 Gene Ontology Annotations | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cellular Component
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Analyze GeneStrainQTL List |
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Cellular Component
Molecular Function
Gene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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References - curated| 1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 2. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 11347906 12477932 14702039 15146197 15489334 17267443 19322201 19946888 21873635 26186194 26344197 26496610 27566589 28514442 29117863 29509190 29523216 |
Genomics
Comparative Map Data| ERMP1 (Homo sapiens - human) |
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| Ermp1 (Mus musculus - house mouse) |
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| Ermp1 (Rattus norvegicus - Norway rat) |
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| Ermp1 (Chinchilla lanigera - long-tailed chinchilla) |
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| ERMP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ERMP1 (Canis lupus familiaris - dog) |
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| Ermp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ERMP1 (Sus scrofa - pig) |
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Position Markers| WI-15054 |
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| SHGC-54206 |
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| RH67989 |
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miRNA Target Status
Predicted Target Of
| 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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Expression
Sequence
Nucleotide Sequences| RefSeq Transcripts | NM_024896 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_005251587 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017015139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_001746382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_428431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_929337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_929338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_929340 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB058718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK026962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK093217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK127218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK172831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL136980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL365360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL834191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AW295384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC031630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC136771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC136773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC144404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CN390893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | NM_024896 ⟹ NP_079172 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGCCGGGGCTGTCGCGGGTTGGGGCGGTTGGGCTGGCAGCTGAGGCTCGTGGCCATGGAGTGGGhide sequence |
| RefSeq Acc Id: | XM_005251587 ⟹ XP_005251644 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
TCGCGGGTTGGGGCGGTTGGGCTGGCAGCTGAGGCTCGTGGCCATGGAGTGGGGTTCTGAGTCGhide sequence |
| RefSeq Acc Id: | XM_017015139 ⟹ XP_016870628 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GCCAAGTAGCCAGGACTATAGGTGTGCGCCAGCATGCTCAGGCATTGTCAACTGATCACAGGTChide sequence |
| RefSeq Acc Id: | XR_001746382 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
TCGCGGGTTGGGGCGGTTGGGCTGGCAGCTGAGGCTCGTGGCCATGGAGTGGGGTTCTGAGTCGhide sequence |
| RefSeq Acc Id: | XR_428431 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
TCGCGGGTTGGGGCGGTTGGGCTGGCAGCTGAGGCTCGTGGCCATGGAGTGGGGTTCTGAGTCGhide sequence |
| RefSeq Acc Id: | XR_929337 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
TCGCGGGTTGGGGCGGTTGGGCTGGCAGCTGAGGCTCGTGGCCATGGAGTGGGGTTCTGAGTCGhide sequence |
| RefSeq Acc Id: | XR_929338 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
TCGCGGGTTGGGGCGGTTGGGCTGGCAGCTGAGGCTCGTGGCCATGGAGTGGGGTTCTGAGTCGhide sequence |
| RefSeq Acc Id: | XR_929340 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
TCGCGGGTTGGGGCGGTTGGGCTGGCAGCTGAGGCTCGTGGCCATGGAGTGGGGTTCTGAGTCGhide sequence |
Protein Sequences| Protein RefSeqs | NP_079172 | (Get FASTA) | NCBI Sequence Viewer |
| XP_005251644 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016870628 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH31630 | (Get FASTA) | NCBI Sequence Viewer |
| AAI36772 | (Get FASTA) | NCBI Sequence Viewer | |
| AAI36774 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB15604 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB47444 | (Get FASTA) | NCBI Sequence Viewer | |
| BAD18796 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG52673 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG54455 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58757 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW58758 | (Get FASTA) | NCBI Sequence Viewer | |
| Q7Z2K6 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_079172 ⟸ NM_024896 |
| - UniProtKB: | Q7Z2K6 (UniProtKB/Swiss-Prot), Q6ZMD3 (UniProtKB/TrEMBL) |
| - Sequence: |
MEWGSESAAVRRHRVGVERREGAAAAPPPEREARAQEPLVDGCSGGGRTRKRSPGGSGGASRGAhide sequence |
| RefSeq Acc Id: | XP_005251644 ⟸ XM_005251587 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MEWGSESAAVRRHRVGVERREGAAAAPPPEREARAQEPLVDGCSGGGRTRKRSPGGSGGASRGAhide sequence |
| RefSeq Acc Id: | XP_016870628 ⟸ XM_017015139 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MLRHCQLITGLSHSLNFASELLSVKDVAHLPFLGQEEEIGTLESLSCFVSGDYLEHITSIGPRThide sequence |
Promoters| RGD ID: | 6807658 | |||||||||
| Promoter ID: | HG_KWN:62556 | |||||||||
| 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: | ENST00000381506, NM_024896, OTTHUMT00000051640, OTTHUMT00000051641, UC003ZJN.1, UC010MHS.1 | |||||||||
| Position: |
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| RGD ID: | 7214635 | |||||||||
| Promoter ID: | EPDNEW_H13064 | |||||||||
| Type: | initiation region | |||||||||
| Name: | ERMP1_2 | |||||||||
| Description: | endoplasmic reticulum metallopeptidase 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 7214639 | |||||||||
| Promoter ID: | EPDNEW_H13065 | |||||||||
| Type: | initiation region | |||||||||
| Name: | ERMP1_1 | |||||||||
| Description: | endoplasmic reticulum metallopeptidase 1 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| 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(chr9:204193-38815478)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 9p24.3-13.1(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 9p24.3-24.1(chr9:220253-6073001)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052858]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052858]|See cases [RCV000052858] | Chr9:220253..6073001 [GRCh38] Chr9:220253..6073001 [GRCh37] Chr9:210253..6063001 [NCBI36] Chr9:9p24.3-24.1 |
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 9p24.3-13.3(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 9p24.3-24.1(chr9:211086-6106482)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054340]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054340]|See cases [RCV000054340] | Chr9:211086..6106482 [GRCh38] Chr9:211086..6106482 [GRCh37] Chr9:201086..6096482 [NCBI36] Chr9:9p24.3-24.1 |
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 |
| 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 |
| NM_024896.2(ERMP1):c.1567C>T (p.Leu523=) | single nucleotide variant | Malignant melanoma [RCV000068684] | Chr9:5805767 [GRCh38] Chr9:5805767 [GRCh37] Chr9:5795767 [NCBI36] Chr9:9p24.1 |
not provided |
| NM_001135920.2(RIC1):c.3409G>A (p.Gly1137Arg) | single nucleotide variant | Malignant melanoma [RCV000068683] | Chr9:5769241 [GRCh38] Chr9:5769241 [GRCh37] Chr9:5759241 [NCBI36] Chr9:9p24.1 |
not provided |
| 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(chr9:204193-10473327)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 9p24.3-23(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 9p24.3-24.1(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 9p24.3-24.1(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-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-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 9p24.3-24.1(chr9:204104-6322471)x1 | copy number loss | See cases [RCV000140410] | Chr9:204104..6322471 [GRCh38] Chr9:204104..6322471 [GRCh37] Chr9:194104..6312471 [NCBI36] Chr9:9p24.3-24.1 |
pathogenic |
| 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 9p24.3-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 9p24.3-24.1(chr9:203861-5909152)x1 | copy number loss | See cases [RCV000447358] | Chr9:203861..5909152 [GRCh37] Chr9:9p24.3-24.1 |
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 9p24.3-13.1(chr9:32396-39140211) | copy number gain | See cases [RCV000447246] | Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-22.2(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(chr9:5598936-5883409)x1 | copy number loss | See cases [RCV000510614] | Chr9:5598936..5883409 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| 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(chr9:203861-11271239)x1 | copy number loss | not provided [RCV000683167] | Chr9:203861..11271239 [GRCh37] Chr9:9p24.3-23 |
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 9p24.3-21.2(chr9:203861-26397133)x3 | copy number gain | not provided [RCV000683171] | Chr9:203861..26397133 [GRCh37] Chr9:9p24.3-21.2 |
pathogenic |
| GRCh37/hg19 9p24.1(chr9:5449153-5900427)x1 | copy number loss | not provided [RCV000683121] | Chr9:5449153..5900427 [GRCh37] Chr9:9p24.1 |
uncertain significance |
| 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 9p24.3-24.1(chr9:203861-7007586)x1 | copy number loss | not provided [RCV000683162] | Chr9:203861..7007586 [GRCh37] Chr9:9p24.3-24.1 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 | copy number loss | not provided [RCV000683164] | Chr9:203861..9306658 [GRCh37] Chr9:9p24.3-23 |
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 9p24.3-21.3(chr9:203861-20653468)x3 | copy number gain | not provided [RCV000683170] | Chr9:203861..20653468 [GRCh37] Chr9:9p24.3-21.3 |
pathogenic |
| GRCh37/hg19 9p24.3-13.1(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-q13(chr9:203861-68262804)x3,4 | copy number gain | not provided [RCV000683174] | Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| 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-q34.3(chr9:10590-141107672)x3 | copy number gain | not provided [RCV000748053] | Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-23(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 9p24.3-21.3(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(chr9:5774225-5816033)x1 | copy number loss | not provided [RCV000748146] | Chr9:5774225..5816033 [GRCh37] Chr9:9p24.1 |
benign |
| 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 9p24.3-13.1(chr9:214309-39156958) | copy number gain | not provided [RCV000767644] | Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 | copy number loss | not provided [RCV000848063] | Chr9:203861..11033228 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
| 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 9p24.3-13.1(chr9:203861-38472979)x3 | copy number gain | not provided [RCV000848175] | Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 | copy number gain | not provided [RCV000845815] | Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
| GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 | copy number loss | not provided [RCV000848089] | Chr9:203861..11028975 [GRCh37] Chr9:9p24.3-23 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:23703 | AgrOrtholog |
| COSMIC | ERMP1 | COSMIC |
| Ensembl Genes | ENSG00000099219 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000340427 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000417160 | UniProtKB/Swiss-Prot | |
| ENSP00000417474 | UniProtKB/TrEMBL | |
| ENSP00000432986 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000214893 | ENTREZGENE |
| ENST00000339450 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000462592 | UniProtKB/Swiss-Prot | |
| ENST00000487088 | UniProtKB/TrEMBL | |
| ENST00000489219 | UniProtKB/TrEMBL | |
| GTEx | ENSG00000099219 | GTEx |
| HGNC ID | HGNC:23703 | ENTREZGENE |
| Human Proteome Map | ERMP1 | Human Proteome Map |
| InterPro | Peptidase_M28 | UniProtKB/Swiss-Prot |
| KEGG Report | hsa:79956 | UniProtKB/Swiss-Prot |
| NCBI Gene | 79956 | ENTREZGENE |
| OMIM | 611156 | OMIM |
| Pfam | Peptidase_M28 | UniProtKB/Swiss-Prot |
| PharmGKB | PA162385366 | PharmGKB |
| UniGene | Hs.591078 | ENTREZGENE |
| UniProt | A0A0C4DGF0_HUMAN | UniProtKB/TrEMBL |
| E7ER77_HUMAN | UniProtKB/TrEMBL | |
| ERMP1_HUMAN | UniProtKB/Swiss-Prot | |
| Q6ZMD3 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q7Z2K6 | ENTREZGENE | |
| UniProt Secondary | B2RNA4 | UniProtKB/Swiss-Prot |
| B3KSB1 | UniProtKB/Swiss-Prot | |
| Q8N5T5 | UniProtKB/Swiss-Prot | |
| Q9H5M1 | UniProtKB/Swiss-Prot |
 |
| More on ERMP1 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1348332 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
