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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 |
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 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 - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| cold-induced sweating syndrome | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Phenotype Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | OMIM Disease Annotation Pipeline |
| 3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 4. | RGD automated import pipeline for gene-chemical interactions |
| 5. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 9847074 11230166 11256614 12477932 12853948 14702039 15489334 16918702 18029348 19520207 20301590 20547956 21145461 21828050 22082156 22084217 22658674 23676014 26186194 26496610 27173435 27392078 27565346 28190767 28514442 29032201 29074562 29633055 30463901 |
Comparative Map Data| KLHL7 (Homo sapiens - human) |
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| Klhl7 (Mus musculus - house mouse) |
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| Klhl7 (Rattus norvegicus - Norway rat) |
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| Klhl7 (Chinchilla lanigera - long-tailed chinchilla) |
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| KLHL7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| KLHL7 (Canis lupus familiaris - dog) |
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| Klhl7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| KLHL7 (Sus scrofa - pig) |
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Position Markers| D15S130 |
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| RH45387 |
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| RH118626 |
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| SHGC-33150 |
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| RH46047 |
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| G20603 |
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| A005Y34 |
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| KLHL7__6340 |
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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 | NG_016983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001031710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001172428 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_018846 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_033328 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NR_033329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006715753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006715754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006715755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006715756 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006715757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017012439 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017012440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017012441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AA432360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC005082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC006039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC073992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF111113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK056390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK290479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK296219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK297369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK297421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK297595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK299006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK302995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL136597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL834193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AY028802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC009555 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC039585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BG704835 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH236948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DC370850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EF560731 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF458408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_001031710 ⟹ NP_001026880 | |||||||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATAGTGCCCCCGCCTCCTTGCGCGAAGTGCGCAGGCTCCTGGGCAGGGCTCGGGTTCTGCCCGGhide sequence |
| RefSeq Acc Id: | NM_001172428 ⟹ NP_001165899 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATAGTGCCCCCGCCTCCTTGCGCGAAGTGCGCAGGCTCCTGGGCAGGGCTCGGGTTCTGCCCGGhide sequence |
| RefSeq Acc Id: | NM_018846 ⟹ NP_061334 | |||||||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTTGGTAGAGGGGCGCGTAAAACAATTCTCGAGCAAAAGTGCTTCTCGTCTGCCGAGGATGTAhide sequence |
| RefSeq Acc Id: | NR_033328 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | NON-CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATAGTGCCCCCGCCTCCTTGCGCGAAGTGCGCAGGCTCCTGGGCAGGGCTCGGGTTCTGCCCGGhide sequence |
| RefSeq Acc Id: | NR_033329 | ||||||||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
| Type: | NON-CODING | ||||||||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
ATAGTGCCCCCGCCTCCTTGCGCGAAGTGCGCAGGCTCCTGGGCAGGGCTCGGGTTCTGCCCGGhide sequence |
| RefSeq Acc Id: | XM_006715753 ⟹ XP_006715816 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGCCCAGTTGGTAGCGTCGCTCCCTGAGCGTTTCTAAGGGGGCCGCCCGGCCTTGTCTTTCGGChide sequence |
| RefSeq Acc Id: | XM_006715754 ⟹ XP_006715817 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GGTTCTGCCCGGGGACGCAGCCCAGTTGGTAGCGTCGCTCCCTGAGCGTTTCTAAGGGGGCCGChide sequence |
| RefSeq Acc Id: | XM_006715755 ⟹ XP_006715818 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTGGAACCCCGCGCCCTGTGGATCGCGCCCCTCTTTCTCTGTCCTCGCCCCTCCTTCCGTTTTChide sequence |
| RefSeq Acc Id: | XM_006715756 ⟹ XP_006715819 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTGGAACCCCGCGCCCTGTGGATCGCGCCCCTCTTTCTCTGTCCTCGCCCCTCCTTCCGTTTTChide sequence |
| RefSeq Acc Id: | XM_006715757 ⟹ XP_006715820 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGCCCAGTTGGTAGCGTCGCTCCCTGAGCGTTTCTAAGGGGGCCGCCCGGCCTTGTCTTTCGGChide sequence |
| RefSeq Acc Id: | XM_017012439 ⟹ XP_016867928 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GTGGAACCCCGCGCCCTGTGGATCGCGCCCCTCTTTCTCTGTCCTCGCCCCTCCTTCCGTTTTChide sequence |
| RefSeq Acc Id: | XM_017012440 ⟹ XP_016867929 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AGCCCAGTTGGTAGCGTCGCTCCCTGAGCGTTTCTAAGGGGGCCGCCCGGCCTTGTCTTTCGGChide sequence |
| RefSeq Acc Id: | XM_017012441 ⟹ XP_016867930 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
GGTTCTGCCCGGGGACGCAGCCCAGTTGGTAGCGTCGCTCCCTGAGCGTTTCTAAGGGGGCCGChide sequence |
Protein Sequences| Protein RefSeqs | NP_001026880 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001165899 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_061334 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006715816 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006715817 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006715818 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006715819 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_006715820 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016867928 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016867929 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016867930 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF27196 | (Get FASTA) | NCBI Sequence Viewer |
| AAH09555 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH39585 | (Get FASTA) | NCBI Sequence Viewer | |
| AAK29099 | (Get FASTA) | NCBI Sequence Viewer | |
| AAO21916 | (Get FASTA) | NCBI Sequence Viewer | |
| ABQ59041 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB71175 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF83168 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12285 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12563 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12577 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12623 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12925 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH13872 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB66532 | (Get FASTA) | NCBI Sequence Viewer | |
| EAL24261 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW93770 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW93771 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW93772 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW93773 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW93774 | (Get FASTA) | NCBI Sequence Viewer | |
| Q8IXQ5 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001026880 ⟸ NM_001031710 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q8IXQ5 (UniProtKB/Swiss-Prot), A8K364 (UniProtKB/TrEMBL) |
| - Sequence: |
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAhide sequence |
| RefSeq Acc Id: | NP_001165899 ⟸ NM_001172428 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | Q8IXQ5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAhide sequence |
| RefSeq Acc Id: | NP_061334 ⟸ NM_018846 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q8IXQ5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNhide sequence |
| RefSeq Acc Id: | XP_006715817 ⟸ XM_006715754 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MLGGTDCRTFLTSHINLKKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVEhide sequence |
| RefSeq Acc Id: | XP_006715816 ⟸ XM_006715753 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAhide sequence |
| RefSeq Acc Id: | XP_006715820 ⟸ XM_006715757 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAhide sequence |
| RefSeq Acc Id: | XP_006715818 ⟸ XM_006715755 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
MLGGTDCRTFLTSHINLKKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVEhide sequence |
| RefSeq Acc Id: | XP_006715819 ⟸ XM_006715756 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVELKDAEPDIIEQLVEFAYTARISVNSNhide sequence |
| RefSeq Acc Id: | XP_016867929 ⟸ XM_017012440 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQKTLCDVILMVQERKIPAHRVVLAAhide sequence |
| RefSeq Acc Id: | XP_016867930 ⟸ XM_017012441 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MLGGTDCRTFLTSHINLKKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVEhide sequence |
| RefSeq Acc Id: | XP_016867928 ⟸ XM_017012439 |
| - Peptide Label: | isoform X3 |
| - UniProtKB: | Q8IXQ5 (UniProtKB/Swiss-Prot), A0A024RA10 (UniProtKB/TrEMBL) |
| - Sequence: |
MLGGTDCRTFLTSHINLKKTLCDVILMVQERKIPAHRVVLAAASHFFNLMFTTNMLESKSFEVEhide sequence |
Promoters| RGD ID: | 7210087 | |||||||||
| Promoter ID: | EPDNEW_H10789 | |||||||||
| Type: | initiation region | |||||||||
| Name: | KLHL7_1 | |||||||||
| Description: | kelch like family member 7 | |||||||||
| 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: | 7210089 | |||||||||
| Promoter ID: | EPDNEW_H10790 | |||||||||
| Type: | initiation region | |||||||||
| Name: | KLHL7_2 | |||||||||
| Description: | kelch like family member 7 | |||||||||
| 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: | 6805539 | |||||||||
| Promoter ID: | HG_KWN:56536 | |||||||||
| 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: | ENST00000410047, NM_001172428, NR_033329, OTTHUMT00000326860, OTTHUMT00000326870, OTTHUMT00000326902, OTTHUMT00000326911, OTTHUMT00000326913, OTTHUMT00000326914, UC003SVR.2, UC003SVT.1 | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_001031710.3(KLHL7):c.449G>A (p.Ser150Asn) | single nucleotide variant | Retinitis pigmentosa 42 [RCV000001063] | Chr7:23140775 [GRCh38] Chr7:23180394 [GRCh37] Chr7:7p15.3 |
pathogenic |
| NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) | single nucleotide variant | Retinitis pigmentosa 42 [RCV000001064]|not provided [RCV000079374] | Chr7:23140784 [GRCh38] Chr7:23180403 [GRCh37] Chr7:7p15.3 |
pathogenic |
| NM_001031710.3(KLHL7):c.457G>A (p.Ala153Thr) | single nucleotide variant | Retinitis pigmentosa 42 [RCV000001065] | Chr7:23140783 [GRCh38] Chr7:23180402 [GRCh37] Chr7:7p15.3 |
pathogenic |
| NM_001031710.3(KLHL7):c.618+1G>A | single nucleotide variant | Distal arthrogryposis [RCV000824875]|Ulnar deviation of the wrist [RCV000576878] | Chr7:23140945 [GRCh38] Chr7:23180564 [GRCh37] Chr7:7p15.3 |
likely pathogenic |
| NM_001031710.3(KLHL7):c.1196T>A (p.Leu399Ter) | single nucleotide variant | Ulnar deviation of the wrist [RCV000576874] | Chr7:23167854 [GRCh38] Chr7:23207473 [GRCh37] Chr7:7p15.3 |
likely pathogenic |
| GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 | copy number gain | Global developmental delay [RCV000051159]|See cases [RCV000051159] | Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1 |
pathogenic |
| GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | Ambiguous genitalia [RCV000052250]|See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7p15.3(chr7:22955449-23155175)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052654]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052654]|See cases [RCV000052654] | Chr7:22955449..23155175 [GRCh38] Chr7:22995068..23194794 [GRCh37] Chr7:22961593..23161319 [NCBI36] Chr7:7p15.3 |
uncertain significance |
| GRCh38/hg38 7p15.3(chr7:22680265-23369688)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053435]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053435]|See cases [RCV000053435] | Chr7:22680265..23369688 [GRCh38] Chr7:22719884..23409307 [GRCh37] Chr7:22686409..23375832 [NCBI36] Chr7:7p15.3 |
uncertain significance |
| GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053528]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053528]|See cases [RCV000053528] | Chr7:53985..24361531 [GRCh38] Chr7:53985..24401150 [GRCh37] Chr7:149068..24367675 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
| GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053530]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053530]|See cases [RCV000053530] | Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2 |
pathogenic |
| GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 | copy number gain | Corpus callosum agenesis [RCV000053531]|See cases [RCV000053531] | Chr7:16234212..26167278 [GRCh38] Chr7:16273837..26206898 [GRCh37] Chr7:16240362..26173423 [NCBI36] Chr7:7p21.2-15.2 |
pathogenic |
| GRCh38/hg38 7p15.3(chr7:22486980-23176403)x3 | copy number gain | See cases [RCV000134148] | Chr7:22486980..23176403 [GRCh38] Chr7:22526599..23216022 [GRCh37] Chr7:22493124..23182547 [NCBI36] Chr7:7p15.3 |
uncertain significance |
| GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 | copy number loss | See cases [RCV000134333] | Chr7:20210912..27849400 [GRCh38] Chr7:20250535..27889019 [GRCh37] Chr7:20217060..27855544 [NCBI36] Chr7:7p21.1-15.2 |
pathogenic |
| GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 | copy number gain | See cases [RCV000136557] | Chr7:54185..26827634 [GRCh38] Chr7:54185..26867253 [GRCh37] Chr7:149268..26833778 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
| GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 | copy number loss | See cases [RCV000136775] | Chr7:20561456..32005143 [GRCh38] Chr7:20601079..32044755 [GRCh37] Chr7:20567604..32011280 [NCBI36] Chr7:7p21.1-14.3 |
pathogenic |
| GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 | copy number gain | See cases [RCV000136649] | Chr7:5682209..27230311 [GRCh38] Chr7:5721840..27269930 [GRCh37] Chr7:5688366..27236455 [NCBI36] Chr7:7p22.1-15.2 |
pathogenic |
| GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 | copy number gain | See cases [RCV000137824] | Chr7:45130..25221165 [GRCh38] Chr7:45130..25260784 [GRCh37] Chr7:140213..25227309 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
| GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 | copy number loss | See cases [RCV000137924] | Chr7:15533812..24851432 [GRCh38] Chr7:15573437..24891051 [GRCh37] Chr7:15539962..24857576 [NCBI36] Chr7:7p21.2-15.3 |
pathogenic |
| GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 | copy number gain | See cases [RCV000143060] | Chr7:1698124..27207295 [GRCh38] Chr7:1737760..27246914 [GRCh37] Chr7:1704286..27213439 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
| GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 | copy number loss | See cases [RCV000142708] | Chr7:10610069..25760560 [GRCh38] Chr7:10649696..25800180 [GRCh37] Chr7:10616221..25766705 [NCBI36] Chr7:7p21.3-15.2 |
pathogenic |
| GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 | copy number gain | See cases [RCV000143586] | Chr7:43360..27196404 [GRCh38] Chr7:43360..27236023 [GRCh37] Chr7:138443..27202548 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
| NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000326483]|not specified [RCV000153403] | Chr7:23173008 [GRCh38] Chr7:23212627 [GRCh37] Chr7:7p15.3 |
benign|likely benign |
| NM_001031710.3(KLHL7):c.975del (p.Lys325fs) | deletion | not specified [RCV000180199] | Chr7:23165736 [GRCh38] Chr7:23205355 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 | copy number loss | See cases [RCV000240125] | Chr7:22935369..32621975 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
| NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) | deletion | Cold-induced sweating syndrome 1 [RCV000491711]|Cold-induced sweating syndrome 3 [RCV000239468] | Chr7:23165783 [GRCh38] Chr7:23205402 [GRCh37] Chr7:7p15.3 |
pathogenic |
| KLHL7, ARG420CYS (rs780705654) | single nucleotide variant | Cold-induced sweating syndrome 3 [RCV000239522] | Chr7:7p15.3 | pathogenic |
| NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) | single nucleotide variant | Cold-induced sweating syndrome 1 [RCV000491913]|Cold-induced sweating syndrome 3 [RCV000239567] | Chr7:23167919 [GRCh38] Chr7:23207538 [GRCh37] Chr7:7p15.3 |
pathogenic |
| NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) | single nucleotide variant | Cold-induced sweating syndrome 1 [RCV000490973]|Cold-induced sweating syndrome 3 [RCV000239571] | Chr7:23165876 [GRCh38] Chr7:23205495 [GRCh37] Chr7:7p15.3 |
pathogenic |
| NM_001031710.3(KLHL7):c.*865C>T | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000269942] | Chr7:23175163 [GRCh38] Chr7:23214782 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*376G>A | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000298850] | Chr7:23174674 [GRCh38] Chr7:23214293 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*1052T>C | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000321331] | Chr7:23175350 [GRCh38] Chr7:23214969 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.*325G>A | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000398641] | Chr7:23174623 [GRCh38] Chr7:23214242 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*779A>G | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000302515] | Chr7:23175077 [GRCh38] Chr7:23214696 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000322908] | Chr7:23125082 [GRCh38] Chr7:23164701 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.-235G>T | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000369566] | Chr7:23105792 [GRCh38] Chr7:23145411 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.1378A>G (p.Thr460Ala) | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000287804] | Chr7:23168036 [GRCh38] Chr7:23207655 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*898A>T | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000324990] | Chr7:23175196 [GRCh38] Chr7:23214815 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*795G>A | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000359638] | Chr7:23175093 [GRCh38] Chr7:23214712 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*1123A>C | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000375991] | Chr7:23175421 [GRCh38] Chr7:23215040 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*7A>G | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000291654] | Chr7:23174305 [GRCh38] Chr7:23213924 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.-206C>T | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000354071] | Chr7:23105821 [GRCh38] Chr7:23145440 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.*377G>A | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000356096] | Chr7:23174675 [GRCh38] Chr7:23214294 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.-16A>G | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000357946] | Chr7:23106011 [GRCh38] Chr7:23145630 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.1578T>C (p.Val526=) | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000383737] | Chr7:23174115 [GRCh38] Chr7:23213734 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.*762G>A | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000407160] | Chr7:23175060 [GRCh38] Chr7:23214679 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.-145C>T | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000262079] | Chr7:23105882 [GRCh38] Chr7:23145501 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*201G>A | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000295318] | Chr7:23174499 [GRCh38] Chr7:23214118 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*35A>G | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000348874] | Chr7:23174333 [GRCh38] Chr7:23213952 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.*98G>A | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000395783] | Chr7:23174396 [GRCh38] Chr7:23214015 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*971G>T | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000266338] | Chr7:23175269 [GRCh38] Chr7:23214888 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.-38G>A | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000319613] | Chr7:23105989 [GRCh38] Chr7:23145608 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.-231G>C | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000393739] | Chr7:23105796 [GRCh38] Chr7:23145415 [GRCh37] Chr7:7p15.3 |
likely benign |
| NM_001031710.3(KLHL7):c.1533C>T (p.Val511=) | single nucleotide variant | not specified [RCV000273336] | Chr7:23174070 [GRCh38] Chr7:23213689 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.767A>G (p.Asn256Ser) | single nucleotide variant | not specified [RCV000391008] | Chr7:23143999 [GRCh38] Chr7:23183618 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.318-7T>C | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000265654] | Chr7:23125041 [GRCh38] Chr7:23164660 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) | single nucleotide variant | Cold-induced sweating syndrome 3 [RCV000677266]|not specified [RCV000361299] | Chr7:23165737 [GRCh38] Chr7:23205356 [GRCh37] Chr7:7p15.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001031710.3(KLHL7):c.443-10_443-9del | deletion | Retinitis Pigmentosa, Dominant [RCV000379786] | Chr7:23140759..23140760 [GRCh38] Chr7:23180378..23180379 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.-215T>A | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000296885] | Chr7:23105812 [GRCh38] Chr7:23145431 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*232A>G | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000352554] | Chr7:23174530 [GRCh38] Chr7:23214149 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001172428.1(KLHL7):c.-271C>T | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000312479] | Chr7:23105756 [GRCh38] Chr7:23145375 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.*913T>C | single nucleotide variant | Retinitis Pigmentosa, Dominant [RCV000361007] | Chr7:23175211 [GRCh38] Chr7:23214830 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.1291del (p.Gly430_Leu431insTer) | deletion | Ulnar deviation of the wrist [RCV000576886] | Chr7:23167949 [GRCh38] Chr7:23207568 [GRCh37] Chr7:7p15.3 |
likely pathogenic |
| NM_001031710.3(KLHL7):c.793+5G>C | single nucleotide variant | not specified [RCV000523837] | Chr7:23144030 [GRCh38] Chr7:23183649 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| TMEM106B-BRAF fusion | deletion | Pleomorphic xanthoastrocytoma [RCV000454357] | Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
| GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 | copy number gain | See cases [RCV000446478] | Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p15.3(chr7:22574536-23357770)x1 | copy number loss | See cases [RCV000447119] | Chr7:22574536..23357770 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) | single nucleotide variant | Retinitis pigmentosa [RCV000504764] | Chr7:23125163 [GRCh38] Chr7:23164782 [GRCh37] Chr7:7p15.3 |
likely pathogenic |
| NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) | single nucleotide variant | Retinitis pigmentosa [RCV000505171] | Chr7:23125152 [GRCh38] Chr7:23164771 [GRCh37] Chr7:7p15.3 |
likely pathogenic |
| NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) | single nucleotide variant | Cold-induced sweating syndrome 1 [RCV000491153]|Cold-induced sweating syndrome 3 [RCV000239522] | Chr7:23167916 [GRCh38] Chr7:23207535 [GRCh37] Chr7:7p15.3 |
pathogenic |
| GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 | copy number gain | See cases [RCV000512091] | Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 | copy number gain | See cases [RCV000510652] | Chr7:43360..23674928 [GRCh37] Chr7:7p22.3-15.3 |
pathogenic |
| GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 | copy number gain | See cases [RCV000510275] | Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| NM_001031710.3(KLHL7):c.178_180GTT[1] (p.Val61del) | microsatellite | Cold-induced sweating syndrome 3 [RCV000585783] | Chr7:23123836..23123838 [GRCh38] Chr7:23163455..23163457 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| GRCh37/hg19 7p15.3(chr7:22721417-23193605)x3 | copy number gain | not provided [RCV000682848] | Chr7:22721417..23193605 [GRCh37] Chr7:7p15.3 |
uncertain significance |
| NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv | inversion | Speech-language disorder 1 [RCV000234948] | Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p15.3(chr7:23187095-23191492)x1 | copy number loss | not provided [RCV000746560] | Chr7:23187095..23191492 [GRCh37] Chr7:7p15.3 |
benign |
| NM_001031710.3(KLHL7):c.249del (p.Phe83fs) | deletion | C-like syndrome [RCV000852400] | Chr7:23124711 [GRCh38] Chr7:23164330 [GRCh37] Chr7:7p15.3 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
| NC_000007.14:g.23140945G>A | single nucleotide variant | Distal arthrogryposis [RCV000824875] | likely pathogenic | |
| NM_001031710.3(KLHL7):c.616C>T (p.Gln206Ter) | single nucleotide variant | Retinitis pigmentosa [RCV000779533] | Chr7:23140942 [GRCh38] Chr7:23180561 [GRCh37] Chr7:7p15.3 |
uncertain significance |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:15646 | AgrOrtholog |
| COSMIC | KLHL7 | COSMIC |
| Ensembl Genes | ENSG00000122550 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000323270 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000343273 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000386263 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000386999 | UniProtKB/Swiss-Prot | |
| ENSP00000404181 | UniProtKB/TrEMBL | |
| ENSP00000430351 | UniProtKB/TrEMBL | |
| Ensembl Transcript | ENST00000322275 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000339077 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000409689 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000410047 | UniProtKB/Swiss-Prot | |
| ENST00000414163 | UniProtKB/TrEMBL | |
| ENST00000521082 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.120.10.80 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000122550 | GTEx |
| HGNC ID | HGNC:15646 | ENTREZGENE |
| Human Proteome Map | KLHL7 | Human Proteome Map |
| InterPro | BACK | UniProtKB/Swiss-Prot |
| BTB-kelch_protein | UniProtKB/Swiss-Prot | |
| BTB/POZ_dom | UniProtKB/Swiss-Prot | |
| Kelch-typ_b-propeller | UniProtKB/Swiss-Prot | |
| Kelch_1 | UniProtKB/Swiss-Prot | |
| KLHL7 | UniProtKB/Swiss-Prot | |
| SKP1/BTB/POZ_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:55975 | UniProtKB/Swiss-Prot |
| NCBI Gene | 55975 | ENTREZGENE |
| OMIM | 611119 | OMIM |
| 612943 | OMIM | |
| 617055 | OMIM | |
| PANTHER | PTHR24412:SF435 | UniProtKB/Swiss-Prot |
| Pfam | BACK | UniProtKB/Swiss-Prot |
| BTB | UniProtKB/Swiss-Prot | |
| Kelch_1 | UniProtKB/Swiss-Prot | |
| PharmGKB | PA38392 | PharmGKB |
| PIRSF | Kelch-like_protein_gigaxonin | UniProtKB/Swiss-Prot |
| PROSITE | BTB | UniProtKB/Swiss-Prot |
| SMART | BACK | UniProtKB/Swiss-Prot |
| BTB | UniProtKB/Swiss-Prot | |
| Kelch | UniProtKB/Swiss-Prot | |
| Superfamily-SCOP | SSF117281 | UniProtKB/Swiss-Prot |
| SSF54695 | UniProtKB/Swiss-Prot | |
| UniGene | Hs.654817 | ENTREZGENE |
| UniProt | A0A024RA10 | ENTREZGENE, UniProtKB/TrEMBL |
| A8K364 | ENTREZGENE, UniProtKB/TrEMBL | |
| E5RFN1_HUMAN | UniProtKB/TrEMBL | |
| H7C259_HUMAN | UniProtKB/TrEMBL | |
| KLHL7_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
| UniProt Secondary | A4D144 | UniProtKB/Swiss-Prot |
| B7Z5I9 | UniProtKB/Swiss-Prot | |
| G5E9G3 | UniProtKB/Swiss-Prot | |
| Q7Z765 | UniProtKB/Swiss-Prot | |
| Q96MV2 | UniProtKB/Swiss-Prot | |
| Q9BQF8 | UniProtKB/Swiss-Prot | |
| Q9UDQ9 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2015-11-24 | KLHL7 | kelch like family member 7 | kelch-like family member 7 | Symbol and/or name change | 5135510 | APPROVED | |
| 2013-02-06 | KLHL7 | kelch-like family member 7 | kelch-like 7 (Drosophila) | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on KLHL7 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1313665 |
| 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.
