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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - ClinVar | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| glycine encephalopathy | IAGP | RGD:13818617 | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:28492532 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway AnnotationsPhenotype Annotations
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References - curated| 1. | Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006. |
| 2. | Canova C, etal., Cancer Res. 2009 Apr 1;69(7):2956-65. doi: 10.1158/0008-5472.CAN-08-2604. |
| 3. | Hong Q, etal., Oncotarget. 2014 Jul 15;5(13):4779-87. |
| 4. | Hu N, etal., Cancer Res. 2005 Apr 1;65(7):2542-6. |
| 5. | Kantojarvi K, etal., Psychiatr Genet. 2010 Jun;20(3):102-8. doi: 10.1097/YPG.0b013e32833a2080. |
| 6. | Krill-Burger JM, etal., Am J Pathol. 2012 Jun;180(6):2427-39. doi: 10.1016/j.ajpath.2012.01.044. Epub 2012 Apr 3. |
| 7. | Liu G, etal., Oncogene. 2009 Dec 17;28(50):4491-500. doi: 10.1038/onc.2009.297. Epub 2009 Sep 28. |
| 8. | Luo W, etal., Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):E3367-76. doi: 10.1073/pnas.1217394109. Epub 2012 Nov 5. |
| 9. | Northcott PA, etal., Nat Genet. 2009 Apr;41(4):465-72. doi: 10.1038/ng.336. Epub 2009 Mar 8. |
| 10. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 11. | RGD automated import pipeline for gene-chemical interactions |
| 12. | Suikki HE, etal., Prostate. 2010 Jun 1;70(8):889-98. doi: 10.1002/pros.21123. |
| 13. | Sun LL, etal., Am J Cancer Res. 2013 Nov 1;3(5):509-17. eCollection 2013. |
| 14. | Wang KS, etal., J Neural Transm. 2012 Apr;119(4):425-33. doi: 10.1007/s00702-011-0729-z. Epub 2011 Nov 11. |
| 15. | Xu Y, etal., Zhonghua Yi Xue Za Zhi. 2013 Nov 12;93(42):3375-8. |
| 16. | Zhao M, etal., Br J Dermatol. 2012 Feb;166(2):226-73. doi: 10.1111/j.1365-2133.2011.10646.x. Epub 2012 Jan 9. |
References - uncurated| PubMed | 9872452 10987278 12477932 15138608 15164053 15489334 16344560 16603238 16732293 16737911 17207460 17277772 17403666 17611647 18066052 18649358 18713068 18927281 20379614 20889312 20923822 21575637 21637537 21873635 21914792 22658674 23067339 23148692 23149075 23251661 23644528 23692052 23698634 24191012 24285722 24371038 24396064 24728997 24936217 25014588 25231870 25636512 26747609 26766589 26864203 27295953 27742014 27840577 28087629 28236704 28262558 28396876 29117863 29374629 29438700 29507755 30537731 |
Comparative Map Data| KDM4C (Homo sapiens - human) |
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| Kdm4c (Mus musculus - house mouse) |
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| Kdm4c (Rattus norvegicus - Norway rat) |
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| Kdm4c (Chinchilla lanigera - long-tailed chinchilla) |
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| KDM4C (Pan paniscus - bonobo/pygmy chimpanzee) |
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| KDM4C (Canis lupus familiaris - dog) |
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| Kdm4c (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| KDM4C (Sus scrofa - pig) |
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Position Markers| D9S281 |
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| WI-18118 |
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| G20220 |
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| A005A28 |
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| RH80582 |
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| RH92434 |
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| RH93868 |
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| RH80446 |
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| RH98875 |
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| SGC32195 |
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| SHGC-82577 |
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| SHGC-80784 |
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| SHGC-81035 |
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| D9S1988 |
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| SHGC-154051 |
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| G65684 |
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| PMC21334P2 |
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| RH78744 |
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| JMJD2C__6490 |
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| G29179 |
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| D9S1741 |
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| WI-17067 |
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| RH11993 |
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| SGC38281 |
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| CHLC.GGAT12H06 |
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| WI-12612 |
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| STS-H68313 |
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miRNA Target Status
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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Nucleotide Sequences| RefSeq Transcripts | NM_001146695 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001146696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001304339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001304340 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001304341 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001353999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001354000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001354001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_015061 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_130707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_148677 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_148678 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_148679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_148680 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011517811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017014504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_024447459 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB018323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AB037901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF085959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AI017056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AI969877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK098534 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK296401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK303651 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK304032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK304095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK310439 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK314355 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL137020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL161443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL354707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL445592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL513412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC008296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC036628 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC042976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC053678 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC060771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC104859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC104861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC143571 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX111090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BX645680 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DA470476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001146695 ⟹ NP_001140167 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NM_001146696 ⟹ NP_001140168 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATGGCTGACATGATGGTCTGTGACCTGAAAGTTGTTGAATAGTTGGAGTGTTCTGCATTCATGThide sequence |
| RefSeq Acc Id: | NM_001304339 ⟹ NP_001291268 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NM_001304340 ⟹ NP_001291269 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NM_001304341 ⟹ NP_001291270 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NM_001353997 ⟹ NP_001340926 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NM_001353998 ⟹ NP_001340927 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NM_001353999 ⟹ NP_001340928 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NM_001354000 ⟹ NP_001340929 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NM_001354001 ⟹ NP_001340930 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NM_015061 ⟹ NP_055876 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NR_130707 | ||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||
| Type: | NON-CODING | ||||||||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NR_148677 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NR_148678 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NR_148679 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | NR_148680 | |||||||||
| RefSeq Status: | REVIEWED | |||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
GACGTGCTGGGTGTAGGTGACTCAACACCGGACAGTTTTGCTTCCAGAGGCTGACACGCTCCTGhide sequence |
| RefSeq Acc Id: | XM_011517811 ⟹ XP_011516113 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTAGTTGTTAAAGGGTTGGGACACGAAGATACTCTTCGCCTATTCGGGATCTCCCATTGTGGGAhide sequence |
| RefSeq Acc Id: | XM_017014498 ⟹ XP_016869987 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATAGGTGCGCGTCGGCGCCCAGGAGGACGTGTGGCGCGTGGACTACATCAGGTCCAGCCCTGCGhide sequence |
| RefSeq Acc Id: | XM_017014499 ⟹ XP_016869988 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTAGTTGTTAAAGGGTTGGGACACGAAGATACTCTTCGCCTATTCGGGATCTCCCATTGTGGGAhide sequence |
| RefSeq Acc Id: | XM_017014501 ⟹ XP_016869990 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTAGTTGTTAAAGGGTTGGGACACGAAGATACTCTTCGCCTATTCGGGATCTCCCATTGTGGGAhide sequence |
| RefSeq Acc Id: | XM_017014502 ⟹ XP_016869991 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATAGGTGCGCGTCGGCGCCCAGGAGGACGTGTGGCGCGTGGACTACATCAGGTCCAGCCCTGCGhide sequence |
| RefSeq Acc Id: | XM_017014504 ⟹ XP_016869993 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATAGGTGCGCGTCGGCGCCCAGGAGGACGTGTGGCGCGTGGACTACATCAGGTCCAGCCCTGCGhide sequence |
| RefSeq Acc Id: | XM_024447458 ⟹ XP_024303226 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTAGTTGTTAAAGGGTTGGGACACGAAGATACTCTTCGCCTATTCGGGATCTCCCATTGTGGGAhide sequence |
| RefSeq Acc Id: | XM_024447459 ⟹ XP_024303227 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGTTTTGCTTCCAGAGGCTGACACGCTCCTGCGCGGTAGTTGTTAAAGGGTTGGGACACGAAGAhide sequence |
| RefSeq Acc Id: | XR_001746252 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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|||||||||
| Sequence: |
ATAGGTGCGCGTCGGCGCCCAGGAGGACGTGTGGCGCGTGGACTACATCAGGTCCAGCCCTGCGhide sequence |
| RefSeq Acc Id: | XR_001746255 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
|
|||||||||
| Sequence: |
ATAGGTGCGCGTCGGCGCCCAGGAGGACGTGTGGCGCGTGGACTACATCAGGTCCAGCCCTGCGhide sequence |
Protein Sequences| Protein RefSeqs | NP_001140167 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001140168 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001291268 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001291269 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001291270 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340926 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340927 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340928 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340929 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001340930 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_055876 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011516113 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869987 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869988 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869990 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869991 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016869993 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303226 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024303227 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAI04860 | (Get FASTA) | NCBI Sequence Viewer |
| AAI04862 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI43572 | (Get FASTA) | NCBI Sequence Viewer | |
| BAA34500 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB16102 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG64654 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG64946 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG65001 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12342 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58730 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58731 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58732 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58733 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58734 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9H3R0 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001140168 ⟸ NM_001146696 |
| - Peptide Label: | isoform 4 |
| - UniProtKB: | Q9H3R0 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MKHYGLPWKRTEEAAADTALTIMEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHhide sequence |
| RefSeq Acc Id: | NP_055876 ⟸ NM_015061 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q9H3R0 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIhide sequence |
| RefSeq Acc Id: | NP_001140167 ⟸ NM_001146695 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | Q9H3R0 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIhide sequence |
| RefSeq Acc Id: | NP_001291268 ⟸ NM_001304339 |
| - Peptide Label: | isoform 5 |
| - Sequence: |
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIhide sequence |
| RefSeq Acc Id: | NP_001291269 ⟸ NM_001304340 |
| - Peptide Label: | isoform 6 |
| - Sequence: |
MWKTTFAWHTEDMDLYSINYLHFGEPKSWYAIPPEHGKRLERLAQGFFPSSSQGCDAFLRHKMThide sequence |
| RefSeq Acc Id: | NP_001291270 ⟸ NM_001304341 |
| - Peptide Label: | isoform 7 |
| - UniProtKB: | B0QZ60 (UniProtKB/TrEMBL) |
| - Sequence: |
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIhide sequence |
| RefSeq Acc Id: | XP_011516113 ⟸ XM_011517811 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MWKTTFAWHTEDMDLYSINYLHFGEPKSWYAIPPEHGKRLERLAQGFFPSSSQGCDAFLRHKMThide sequence |
| RefSeq Acc Id: | XP_016869987 ⟸ XM_017014498 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIhide sequence |
| RefSeq Acc Id: | XP_016869991 ⟸ XM_017014502 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIhide sequence |
| RefSeq Acc Id: | XP_016869993 ⟸ XM_017014504 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIhide sequence |
| RefSeq Acc Id: | XP_016869988 ⟸ XM_017014499 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MEFFGGVDEWNIARLNTVLDVVEEECGISIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFhide sequence |
| RefSeq Acc Id: | XP_016869990 ⟸ XM_017014501 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MVQILMGAYMMRYAIPPEHGKRLERLAQGFFPSSSQGCDAFLRHKMTLISPSVLKKYGIPFDKIhide sequence |
| RefSeq Acc Id: | NP_001340928 ⟸ NM_001353999 |
| - Peptide Label: | isoform 10 |
| - Sequence: |
MQVEQNLSDHIKLSGNSCLSTSVTEDIKTEDDKAYAYRSVPSISSEADDSIPLSSGYEKPEKSDhide sequence |
| RefSeq Acc Id: | NP_001340930 ⟸ NM_001354001 |
| - Peptide Label: | isoform 11 |
| - Sequence: |
MQVEQNLSDHIKLSGNSCLSTSVTEDIKTEDDKAYAYRSVPSISSEADDSIPLSSGYEKPEKSDhide sequence |
| RefSeq Acc Id: | NP_001340929 ⟸ NM_001354000 |
| - Peptide Label: | isoform 11 |
| - Sequence: |
MQVEQNLSDHIKLSGNSCLSTSVTEDIKTEDDKAYAYRSVPSISSEADDSIPLSSGYEKPEKSDhide sequence |
| RefSeq Acc Id: | NP_001340926 ⟸ NM_001353997 |
| - Peptide Label: | isoform 8 |
| - Sequence: |
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIhide sequence |
| RefSeq Acc Id: | NP_001340927 ⟸ NM_001353998 |
| - Peptide Label: | isoform 9 |
| - Sequence: |
MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIhide sequence |
| RefSeq Acc Id: | XP_024303227 ⟸ XM_024447459 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MQVEQNLSDHIKLSGNSCLSTSVTEDIKTEDDKAYAYRSVPSISSEADDSIPLSSGYEKPEKSDhide sequence |
| RefSeq Acc Id: | XP_024303226 ⟸ XM_024447458 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MEFFGGVDEWNIARLNTVLDVVEEECGISIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFhide sequence |
Promoters| RGD ID: | 7214659 | |||||||||
| Promoter ID: | EPDNEW_H13075 | |||||||||
| Type: | initiation region | |||||||||
| Name: | KDM4C_3 | |||||||||
| Description: | lysine demethylase 4C | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 6807820 | |||||||||
| Promoter ID: | HG_KWN:62597 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000381306, ENST00000401787, NM_001146695, OTTHUMT00000051692, OTTHUMT00000318593, UC010MHW.1 | |||||||||
| Position: |
|
| RGD ID: | 7214663 | |||||||||
| Promoter ID: | EPDNEW_H13076 | |||||||||
| Type: | initiation region | |||||||||
| Name: | KDM4C_1 | |||||||||
| Description: | lysine demethylase 4C | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
| RGD ID: | 7214661 | |||||||||
| Promoter ID: | EPDNEW_H13077 | |||||||||
| Type: | initiation region | |||||||||
| Name: | KDM4C_4 | |||||||||
| Description: | lysine demethylase 4C | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050357]|See cases [RCV000050357] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Global developmental delay [RCV000050347]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050348]|See cases [RCV000050348] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050831]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050831]|See cases [RCV000050831] | Chr9:204193..13974100 [GRCh38] Chr9:204193..13974099 [GRCh37] Chr9:194193..13964099 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050612]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050612]|See cases [RCV000050612] | Chr9:1592306..12387899 [GRCh38] Chr9:1592306..12387899 [GRCh37] Chr9:1582306..12377899 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051106]|See cases [RCV000051106] | Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 | copy number loss | Global developmental delay [RCV000052856]|See cases [RCV000052856] | Chr9:211087..13754567 [GRCh38] Chr9:211087..13754566 [GRCh37] Chr9:201087..13744566 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 | copy number loss | Seizure [RCV000052860]|See cases [RCV000052860] | Chr9:220253..18073359 [GRCh38] Chr9:220253..18073357 [GRCh37] Chr9:210253..18063357 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 | copy number loss | Abnormality of the heart [RCV000052861]|See cases [RCV000052861] | Chr9:220253..6968724 [GRCh38] Chr9:220253..6968724 [GRCh37] Chr9:210253..6958724 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052863]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052863]|See cases [RCV000052863] | Chr9:1242978..18957216 [GRCh38] Chr9:1242978..18957214 [GRCh37] Chr9:1232978..18947214 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053703]|See cases [RCV000053703] | Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 | copy number gain | Esophageal atresia [RCV000053704]|See cases [RCV000053704] | Chr9:204193..22086858 [GRCh38] Chr9:204193..22086857 [GRCh37] Chr9:194193..22076857 [NCBI36] Chr9:9p24.3-21.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] | Chr9:204193..34599437 [GRCh38] Chr9:204193..34599435 [GRCh37] Chr9:194193..34589435 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 | copy number gain | Intrauterine growth retardation [RCV000053745]|See cases [RCV000053745] | Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 | copy number gain | Global developmental delay [RCV000053707]|See cases [RCV000053707] | Chr9:204193..33284638 [GRCh38] Chr9:204193..33284636 [GRCh37] Chr9:194193..33274636 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 | copy number loss | Autism [RCV000054331]|See cases [RCV000054331] | Chr9:204193..10340779 [GRCh38] Chr9:204193..10340779 [GRCh37] Chr9:194193..10330779 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] | Chr9:204193..12302772 [GRCh38] Chr9:204193..12302772 [GRCh37] Chr9:194193..12292772 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] | Chr9:204193..13276053 [GRCh38] Chr9:204193..13276052 [GRCh37] Chr9:194193..13266052 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] | Chr9:204193..9363321 [GRCh38] Chr9:204193..9363321 [GRCh37] Chr9:194193..9353321 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] | Chr9:204193..13454719 [GRCh38] Chr9:204193..13454718 [GRCh37] Chr9:194193..13444718 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 | copy number loss | Macrocephaly [RCV000054341]|See cases [RCV000054341] | Chr9:211086..11867480 [GRCh38] Chr9:211086..11867480 [GRCh37] Chr9:201086..11857480 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054315]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054315]|See cases [RCV000054315] | Chr9:111216..14650762 [GRCh38] Chr9:111216..14650760 [GRCh37] Chr9:101216..14640760 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 | copy number loss | Global developmental delay [RCV000054316]|See cases [RCV000054316] | Chr9:195399..11081440 [GRCh38] Chr9:199707..11081440 [GRCh37] Chr9:182102..11071440 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] | Chr9:203993..13753101 [GRCh38] Chr9:203993..13753100 [GRCh37] Chr9:193993..13743100 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 | copy number loss | Seizure [RCV000054327]|See cases [RCV000054327] | Chr9:203993..12621562 [GRCh38] Chr9:203993..12621562 [GRCh37] Chr9:193993..12611562 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053746]|See cases [RCV000053746] | Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053747]|See cases [RCV000053747] | Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] | Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| NM_001146694.1(KDM4C):c.1139C>G (p.Ser380Cys) | single nucleotide variant | Malignant melanoma [RCV000068687] | Chr9:6984189 [GRCh38] Chr9:6984189 [GRCh37] Chr9:6974189 [NCBI36] Chr9:9p24.1 |
not provided |
| NM_015061.3(KDM4C):c.2453A>G (p.Lys818Arg) | single nucleotide variant | Malignant melanoma [RCV000068689] | Chr9:7103713 [GRCh38] Chr9:7103713 [GRCh37] Chr9:7093713 [NCBI36] Chr9:9p24.1 |
not provided |
| GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 | copy number loss | See cases [RCV000133873] | Chr9:204193..10473327 [GRCh38] Chr9:204193..10473327 [GRCh37] Chr9:194193..10463327 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 | copy number loss | See cases [RCV000133825] | Chr9:204193..18073359 [GRCh38] Chr9:204193..18073357 [GRCh37] Chr9:194193..18063357 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) | copy number gain | See cases [RCV000133791] | Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 | copy number loss | See cases [RCV000133728] | Chr9:204193..10164955 [GRCh38] Chr9:204193..10164955 [GRCh37] Chr9:194193..10154955 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 | copy number gain | See cases [RCV000134037] | Chr9:220257..29424848 [GRCh38] Chr9:220257..29424846 [GRCh37] Chr9:210257..29414846 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 | copy number loss | See cases [RCV000134126] | Chr9:204090..13146846 [GRCh38] Chr9:204090..13146845 [GRCh37] Chr9:194090..13136845 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 | copy number loss | See cases [RCV000133923] | Chr9:204193..11277770 [GRCh38] Chr9:204193..11277770 [GRCh37] Chr9:194193..11267770 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 | copy number gain | See cases [RCV000135344] | Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 | copy number loss | See cases [RCV000135660] | Chr9:220253..18708805 [GRCh38] Chr9:220253..18708803 [GRCh37] Chr9:210253..18698803 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 | copy number loss | See cases [RCV000135694] | Chr9:204104..18882281 [GRCh38] Chr9:204104..18882279 [GRCh37] Chr9:194104..18872279 [NCBI36] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 | copy number loss | See cases [RCV000135434] | Chr9:220253..8866675 [GRCh38] Chr9:220253..8866675 [GRCh37] Chr9:210253..8856675 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh38/hg38 9p24.1(chr9:6558442-6838207)x3 | copy number gain | See cases [RCV000135497] | Chr9:6558442..6838207 [GRCh38] Chr9:6558442..6838207 [GRCh37] Chr9:6548442..6828207 [NCBI36] Chr9:9p24.1 |
benign |
| GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 | copy number loss | See cases [RCV000135544] | Chr9:204193..6968724 [GRCh38] Chr9:204193..6968724 [GRCh37] Chr9:194193..6958724 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 | copy number loss | See cases [RCV000135563] | Chr9:204193..10852686 [GRCh38] Chr9:204193..10852686 [GRCh37] Chr9:194193..10842686 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 | copy number gain | See cases [RCV000136152] | Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
| GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 | copy number loss | See cases [RCV000135968] | Chr9:204193..16897580 [GRCh38] Chr9:204193..16897578 [GRCh37] Chr9:194193..16887578 [NCBI36] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 | copy number loss | See cases [RCV000135935] | Chr9:204104..11298187 [GRCh38] Chr9:204104..11298187 [GRCh37] Chr9:194104..11288187 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 | copy number gain | See cases [RCV000135954] | Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
| GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 | copy number loss | See cases [RCV000136859] | Chr9:214367..16307944 [GRCh38] Chr9:214367..16307942 [GRCh37] Chr9:204367..16297942 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 | copy number loss | See cases [RCV000136966] | Chr9:204193..11435662 [GRCh38] Chr9:204193..11435662 [GRCh37] Chr9:194193..11425662 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 | copy number loss | See cases [RCV000136787] | Chr9:4152060..8518353 [GRCh38] Chr9:4152060..8518353 [GRCh37] Chr9:4142060..8508353 [NCBI36] Chr9:9p24.2-24.1 |
pathogenic |
| GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 | copy number gain | See cases [RCV000136729] | Chr9:3591159..9361786 [GRCh38] Chr9:3591159..9361786 [GRCh37] Chr9:3581159..9351786 [NCBI36] Chr9:9p24.2-23 |
pathogenic |
| GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 | copy number gain | See cases [RCV000136680] | Chr9:4661872..27661572 [GRCh38] Chr9:4661872..27661570 [GRCh37] Chr9:4651872..27651570 [NCBI36] Chr9:9p24.1-21.2 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 | copy number loss | See cases [RCV000137669] | Chr9:204104..14182668 [GRCh38] Chr9:204104..14182667 [GRCh37] Chr9:194104..14172667 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 | copy number loss | See cases [RCV000137455] | Chr9:204104..8266492 [GRCh38] Chr9:204104..8266492 [GRCh37] Chr9:194104..8256492 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 | copy number gain | See cases [RCV000137382] | Chr9:204104..11610300 [GRCh38] Chr9:204104..11610300 [GRCh37] Chr9:194104..11600300 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 | copy number loss | See cases [RCV000138119] | Chr9:204104..10023901 [GRCh38] Chr9:204104..10023901 [GRCh37] Chr9:194104..10013901 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 | copy number gain | See cases [RCV000137741] | Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 | copy number gain | See cases [RCV000137888] | Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 | copy number loss | See cases [RCV000137745] | Chr9:204104..7133443 [GRCh38] Chr9:204104..7133443 [GRCh37] Chr9:194104..7123443 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 | copy number gain | See cases [RCV000138783] | Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 | copy number gain | See cases [RCV000138499] | Chr9:459131..24207894 [GRCh38] Chr9:459131..24207892 [GRCh37] Chr9:449131..24197892 [NCBI36] Chr9:9p24.3-21.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 | copy number gain | See cases [RCV000139208] | Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 | copy number gain | See cases [RCV000139015] | Chr9:204104..34151476 [GRCh38] Chr9:204104..34151474 [GRCh37] Chr9:194104..34141474 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic|likely benign |
| GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 | copy number gain | See cases [RCV000139126] | Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000138962] | Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 | copy number loss | See cases [RCV000139566] | Chr9:204090..9282864 [GRCh38] Chr9:204090..9282864 [GRCh37] Chr9:194090..9272864 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 | copy number gain | See cases [RCV000139621] | Chr9:204104..27963369 [GRCh38] Chr9:204104..27963367 [GRCh37] Chr9:194104..27953367 [NCBI36] Chr9:9p24.3-21.2 |
pathogenic |
| GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 | copy number loss | See cases [RCV000141407] | Chr9:185579..7635806 [GRCh38] Chr9:185579..7635806 [GRCh37] Chr9:175579..7625806 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 | copy number loss | See cases [RCV000141408] | Chr9:211086..11457340 [GRCh38] Chr9:211086..11457340 [GRCh37] Chr9:201086..11447340 [NCBI36] Chr9:9p24.3-23 |
pathogenic |
| GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 | copy number loss | See cases [RCV000140601] | Chr9:211086..7444397 [GRCh38] Chr9:211086..7444397 [GRCh37] Chr9:201086..7434397 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh38/hg38 9p24.1(chr9:6672380-6906978)x3 | copy number gain | See cases [RCV000140608] | Chr9:6672380..6906978 [GRCh38] Chr9:6672380..6906978 [GRCh37] Chr9:6662380..6896978 [NCBI36] Chr9:9p24.1 |
benign |
| GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | copy number gain | See cases [RCV000141904] | Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 | copy number gain | See cases [RCV000141876] | Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 | copy number gain | See cases [RCV000141662] | Chr9:203861..31423873 [GRCh38] Chr9:203861..31423871 [GRCh37] Chr9:193861..31413871 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
| GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 | copy number loss | See cases [RCV000141442] | Chr9:322690..16401656 [GRCh38] Chr9:322690..16401654 [GRCh37] Chr9:312690..16391654 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
| GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 | copy number loss | See cases [RCV000142074] | Chr9:203861..8172957 [GRCh38] Chr9:203861..8172957 [GRCh37] Chr9:193861..8162957 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 | copy number loss | See cases [RCV000142964] | Chr9:204090..15260600 [GRCh38] Chr9:204090..15260598 [GRCh37] Chr9:194090..15250598 [NCBI36] Chr9:9p24.3-22.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | copy number gain | See cases [RCV000143012] | Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
| GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 | copy number loss | See cases [RCV000142688] | Chr9:220253..7733826 [GRCh38] Chr9:220253..7733826 [GRCh37] Chr9:210253..7723826 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) | copy number gain | See cases [RCV000143411] | Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 | copy number gain | See cases [RCV000143476] | Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 | copy number gain | See cases [RCV000148113] | Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 | copy number gain | See cases [RCV000148159] | Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 | copy number gain | See cases [RCV000139207] | Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 | copy number gain | See cases [RCV000240201] | Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 | copy number loss | See cases [RCV000239799] | Chr9:13997..11376705 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 | copy number gain | See cases [RCV000240081] | Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 | copy number gain | See cases [RCV000240048] | Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 | copy number gain | See cases [RCV000239869] | Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 | copy number gain | See cases [RCV000240225] | Chr9:213161..19450250 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 | copy number gain | See cases [RCV000449165] | Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) | copy number gain | See cases [RCV000449375] | Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 | copy number gain | See cases [RCV000447207] | Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 | copy number loss | See cases [RCV000446597] | Chr9:203861..15211277 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
| GRCh37/hg19 9p24.1(chr9:6640702-6795052)x1 | copy number loss | See cases [RCV000446218] | Chr9:6640702..6795052 [GRCh37] Chr9:9p24.1 |
likely benign |
| GRCh37/hg19 9p24.1(chr9:6763430-7537929)x3 | copy number gain | See cases [RCV000446911] | Chr9:6763430..7537929 [GRCh37] Chr9:9p24.1 |
likely benign |
| GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) | copy number gain | See cases [RCV000447246] | Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | See cases [RCV000446521] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 | copy number loss | See cases [RCV000447415] | Chr9:203861..16925108 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 | copy number loss | See cases [RCV000447144] | Chr9:203861..14322268 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 | copy number loss | See cases [RCV000446566] | Chr9:203861..16670878 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 | copy number loss | See cases [RCV000445963] | Chr9:203861..16856907 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 | copy number loss | See cases [RCV000445998] | Chr9:213161..17496750 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 | copy number gain | See cases [RCV000448242] | Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 | copy number loss | See cases [RCV000448147] | Chr9:203861..11414732 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 | copy number loss | See cases [RCV000448304] | Chr9:203861..8735462 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 | copy number gain | See cases [RCV000448569] | Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 | copy number gain | See cases [RCV000448978] | Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 | copy number loss | See cases [RCV000512122] | Chr9:203861..17125893 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 | copy number loss | See cases [RCV000510332] | Chr9:4581369..14848338 [GRCh37] Chr9:9p24.2-22.3 |
pathogenic |
| GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 | copy number gain | See cases [RCV000510425] | Chr9:5900425..30008330 [GRCh37] Chr9:9p24.1-21.1 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 | copy number loss | See cases [RCV000511432] | Chr9:203861..13486759 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 | copy number loss | See cases [RCV000510944] | Chr9:203861..17655298 [GRCh37] Chr9:9p24.3-22.2 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | See cases [RCV000510864] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 | copy number gain | See cases [RCV000510843] | Chr9:203861..10700288 [GRCh37] Chr9:9p24.3-23 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 | copy number gain | See cases [RCV000512431] | Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) | copy number gain | See cases [RCV000512392] | Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 | copy number gain | Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] | Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 | copy number loss | not provided [RCV000683166] | Chr9:203861..9924905 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.1(chr9:6619864-6745550)x3 | copy number gain | not provided [RCV000683080] | Chr9:6619864..6745550 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 | copy number loss | not provided [RCV000683167] | Chr9:203861..11271239 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 | copy number loss | not provided [RCV000683162] | Chr9:203861..7007586 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 | copy number loss | not provided [RCV000683168] | Chr9:203861..14744606 [GRCh37] Chr9:9p24.3-22.3 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 | copy number loss | not provided [RCV000683164] | Chr9:203861..9306658 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 | copy number gain | not provided [RCV000683171] | Chr9:203861..26397133 [GRCh37] Chr9:9p24.3-21.2 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 | copy number gain | not provided [RCV000683172] | Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 | copy number gain | not provided [RCV000683176] | Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
| GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 | copy number gain | not provided [RCV000683170] | Chr9:203861..20653468 [GRCh37] Chr9:9p24.3-21.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 | copy number gain | not provided [RCV000683173] | Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 | copy number gain | not provided [RCV000683175] | Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 | copy number gain | not provided [RCV000683174] | Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.1(chr9:6531227-7079684)x1 | copy number loss | not provided [RCV000683130] | Chr9:6531227..7079684 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6714317-7298340)x1 | copy number loss | not provided [RCV000683133] | Chr9:6714317..7298340 [GRCh37] Chr9:9p24.1 |
likely benign |
| GRCh37/hg19 9p24.1(chr9:6614704-7213334)x3 | copy number gain | not provided [RCV000683134] | Chr9:6614704..7213334 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| NC_000009.11:g.(?_6620184)_(6720997_?)dup | duplication | Non-ketotic hyperglycinemia [RCV000707819] | Chr9:6620184..6720997 [GRCh38] Chr9:6620184..6720997 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 | copy number gain | not provided [RCV000748055] | Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 | copy number loss | not provided [RCV000748060] | Chr9:46587..12532584 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 | copy number loss | not provided [RCV000748061] | Chr9:46587..13708607 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 | copy number gain | not provided [RCV000748062] | Chr9:46587..22012051 [GRCh37] Chr9:9p24.3-21.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 | copy number gain | not provided [RCV000748063] | Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 | copy number gain | not provided [RCV000748054] | Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 | copy number gain | not provided [RCV000748122] | Chr9:4420767..22195820 [GRCh37] Chr9:9p24.2-21.3 |
pathogenic |
| GRCh37/hg19 9p24.1(chr9:6539087-6869872)x3 | copy number gain | not provided [RCV000748150] | Chr9:6539087..6869872 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6540540-6869872)x3 | copy number gain | not provided [RCV000748151] | Chr9:6540540..6869872 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6544766-6873125)x3 | copy number gain | not provided [RCV000748152] | Chr9:6544766..6873125 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6567841-7018817)x3 | copy number gain | not provided [RCV000748154] | Chr9:6567841..7018817 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6609578-6830208)x1 | copy number loss | not provided [RCV000748155] | Chr9:6609578..6830208 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6628916-6744721)x3 | copy number gain | not provided [RCV000748156] | Chr9:6628916..6744721 [GRCh37] Chr9:9p24.1 |
likely benign |
| GRCh37/hg19 9p24.1(chr9:6631702-6755968)x3 | copy number gain | not provided [RCV000748157] | Chr9:6631702..6755968 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6638114-6722102)x3 | copy number gain | not provided [RCV000748159] | Chr9:6638114..6722102 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6673285-6722212)x1 | copy number loss | not provided [RCV000748166] | Chr9:6673285..6722212 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6695397-6729288)x1 | copy number loss | not provided [RCV000748167] | Chr9:6695397..6729288 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6722212-6729786)x0 | copy number loss | not provided [RCV000748168] | Chr9:6722212..6729786 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6729288-6729786)x0 | copy number loss | not provided [RCV000748169] | Chr9:6729288..6729786 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6729288-6739489)x0 | copy number loss | not provided [RCV000748170] | Chr9:6729288..6739489 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6729601-6729786)x0 | copy number loss | not provided [RCV000748171] | Chr9:6729601..6729786 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6769653-6845561)x3 | copy number gain | not provided [RCV000748172] | Chr9:6769653..6845561 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6867766-6997639)x1 | copy number loss | not provided [RCV000748173] | Chr9:6867766..6997639 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.1(chr9:6946719-7209423)x3 | copy number gain | not provided [RCV000748174] | Chr9:6946719..7209423 [GRCh37] Chr9:9p24.1 |
benign |
| GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) | copy number gain | not provided [RCV000767644] | Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 | copy number gain | not provided [RCV000845900] | Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.1(chr9:6620058-6748957)x3 | copy number gain | not provided [RCV000849413] | Chr9:6620058..6748957 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6738485)x3 | copy number gain | not provided [RCV000849844] | Chr9:6620058..6738485 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6749074)x3 | copy number gain | not provided [RCV000849550] | Chr9:6620058..6749074 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6749385)x3 | copy number gain | not provided [RCV000849201] | Chr9:6620058..6749385 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6536952-6874230)x3 | copy number gain | not provided [RCV000848794] | Chr9:6536952..6874230 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6566559-7024589)x3 | copy number gain | not provided [RCV000847934] | Chr9:6566559..7024589 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6745549-6864274)x3 | copy number gain | not provided [RCV000846162] | Chr9:6745549..6864274 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6623867-6749385)x3 | copy number gain | not provided [RCV000847494] | Chr9:6623867..6749385 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6756136)x3 | copy number gain | not provided [RCV000848926] | Chr9:6620058..6756136 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6749334)x3 | copy number gain | not provided [RCV000846447] | Chr9:6620058..6749334 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6756136)x3 | copy number gain | not provided [RCV000846243] | Chr9:6620058..6756136 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6738485)x3 | copy number gain | not provided [RCV000846449] | Chr9:6620058..6738485 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6731826)x3 | copy number gain | not provided [RCV000846609] | Chr9:6620058..6731826 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 | copy number gain | not provided [RCV000848175] | Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.1(chr9:6775327-6862241)x1 | copy number loss | not provided [RCV000846218] | Chr9:6775327..6862241 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:7030577-7090016)x3 | copy number gain | not provided [RCV000846229] | Chr9:7030577..7090016 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6566559-7018445)x3 | copy number gain | not provided [RCV000847094] | Chr9:6566559..7018445 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 | copy number gain | not provided [RCV000845664] | Chr9:203861..19448473 [GRCh37] Chr9:9p24.3-22.1 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 | copy number loss | not provided [RCV000848063] | Chr9:203861..11033228 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.1(chr9:6620058-6749385)x3 | copy number gain | not provided [RCV000848690] | Chr9:6620058..6749385 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6756136)x3 | copy number gain | not provided [RCV000848220] | Chr9:6620058..6756136 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6749334)x3 | copy number gain | not provided [RCV000846165] | Chr9:6620058..6749334 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6301577-6761300)x3 | copy number gain | not provided [RCV000846210] | Chr9:6301577..6761300 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6756136)x3 | copy number gain | not provided [RCV000849783] | Chr9:6620058..6756136 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6755968)x3 | copy number gain | not provided [RCV000846420] | Chr9:6620058..6755968 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6990984-7222369)x3 | copy number gain | not provided [RCV000848024] | Chr9:6990984..7222369 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6749074)x3 | copy number gain | not provided [RCV000848052] | Chr9:6620058..6749074 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6749385)x3 | copy number gain | not provided [RCV000846677] | Chr9:6620058..6749385 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6738485)x3 | copy number gain | not provided [RCV000848484] | Chr9:6620058..6738485 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6749334)x3 | copy number gain | not provided [RCV000846730] | Chr9:6620058..6749334 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6756136)x3 | copy number gain | not provided [RCV000847585] | Chr9:6620058..6756136 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:7020995-7055362)x1 | copy number loss | not provided [RCV000848664] | Chr9:7020995..7055362 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620058-6756136)x3 | copy number gain | not provided [RCV000846287] | Chr9:6620058..6756136 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6620024-6733959)x3 | copy number gain | not provided [RCV000846763] | Chr9:6620024..6733959 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 | copy number loss | not provided [RCV000848089] | Chr9:203861..11028975 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| GRCh37/hg19 9p24.1(chr9:6619823-6738485)x3 | copy number gain | not provided [RCV000846298] | Chr9:6619823..6738485 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.1(chr9:6566559-7018445)x3 | copy number gain | not provided [RCV000845849] | Chr9:6566559..7018445 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 | copy number gain | not provided [RCV000845815] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:17071 | AgrOrtholog |
| COSMIC | KDM4C | COSMIC |
| Ensembl Genes | ENSG00000107077 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000370707 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000370710 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000383990 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000400127 | UniProtKB/TrEMBL | |
| ENSP00000404756 | UniProtKB/TrEMBL | |
| ENSP00000405739 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENSP00000440656 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000445427 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000381306 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000381309 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000401787 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000420847 | UniProtKB/TrEMBL | |
| ENST00000428870 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000438023 | ENTREZGENE, UniProtKB/TrEMBL | |
| ENST00000536108 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000543771 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.30.40.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000107077 | GTEx |
| HGNC ID | HGNC:17071 | ENTREZGENE |
| Human Proteome Map | KDM4C | Human Proteome Map |
| InterPro | EPHD | UniProtKB/Swiss-Prot |
| JmjC_dom | UniProtKB/Swiss-Prot | |
| JmjN | UniProtKB/Swiss-Prot | |
| KDM4_Tudor_2 | UniProtKB/Swiss-Prot | |
| Tudor | UniProtKB/Swiss-Prot | |
| Znf_FYVE_PHD | UniProtKB/Swiss-Prot | |
| Znf_PHD | UniProtKB/Swiss-Prot | |
| Znf_RING/FYVE/PHD | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:23081 | UniProtKB/Swiss-Prot |
| NCBI Gene | 23081 | ENTREZGENE |
| OMIM | 605469 | OMIM |
| Pfam | JmjC | UniProtKB/Swiss-Prot |
| JmjN | UniProtKB/Swiss-Prot | |
| Tudor_2 | UniProtKB/Swiss-Prot | |
| PharmGKB | PA164721503 | PharmGKB |
| PROSITE | EPHD | UniProtKB/Swiss-Prot |
| JMJC | UniProtKB/Swiss-Prot | |
| JMJN | UniProtKB/Swiss-Prot | |
| SMART | JmjC | UniProtKB/Swiss-Prot |
| JmjN | UniProtKB/Swiss-Prot | |
| PHD | UniProtKB/Swiss-Prot | |
| TUDOR | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF57903 | UniProtKB/Swiss-Prot |
| UniGene | Hs.709425 | ENTREZGENE |
| UniProt | A0A0A0MSR6_HUMAN | UniProtKB/TrEMBL |
| B0QZ60 | ENTREZGENE, UniProtKB/TrEMBL | |
| C9J879_HUMAN | UniProtKB/TrEMBL | |
| F8WCN1_HUMAN | UniProtKB/TrEMBL | |
| KDM4C_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | B4E1Y4 | UniProtKB/Swiss-Prot |
| B7ZL46 | UniProtKB/Swiss-Prot | |
| F5H347 | UniProtKB/Swiss-Prot | |
| F5H7P0 | UniProtKB/Swiss-Prot | |
| O94877 | UniProtKB/Swiss-Prot | |
| Q2M3M0 | UniProtKB/Swiss-Prot | |
| Q5JUC9 | UniProtKB/Swiss-Prot | |
| Q5VYJ2 | UniProtKB/Swiss-Prot | |
| Q5VYJ3 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-02-16 | KDM4C | lysine demethylase 4C | lysine (K)-specific demethylase 4C | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-08-17 | KDM4C | lysine (K)-specific demethylase 4C | KDM4C | lysine (K)-specific demethylase 4C | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on KDM4C | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1316776 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
