 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology Annotations |
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Analyze GeneStrainQTL List |
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Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
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 MOET (Multi-Ontology Enrichement) unavailable |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Gene Ontology AnnotationsDisease Annotations
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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. | GOA_HUMAN data from the GO Consortium |
| 2. | Hagiwara N, etal., Proc Natl Acad Sci U S A. 2000 Apr 11;97(8):4180-5. |
| 3. | Iguchi H, etal., J Biol Chem. 2005 Nov 11;280(45):37669-80. Epub 2005 Sep 7. |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | Ueda R, etal., Brain Tumor Pathol. 2004;21(1):35-8. |
References - uncurated| PubMed | 1614875 9755172 10996314 11076863 11230166 11255018 11256614 11504872 12477932 14530442 14691456 14702039 15489336 15696972 16258006 16344560 16381901 16442531 17412698 17433257 17961134 19240061 19274049 19384854 19453261 19709629 19714249 19801982 19913121 20081117 20379614 20395365 20548944 20628086 20966410 21084391 21104366 21262861 21263153 21401405 21625884 21728837 21873635 21988832 22504420 22547066 22864933 23663701 23667531 23731550 23884650 23972371 24249740 25023649 25199915 25249183 25293881 25457384 26119940 26525805 26868133 26893351 27591578 28475012 28514442 28687615 28892647 29074889 29333458 29355560 29369542 29512775 30062780 30200835 30580904 30690078 31506178 31746345 |
Genomics
Comparative Map Data| SOX6 (Homo sapiens - human) |
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| Sox6 (Mus musculus - house mouse) |
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| Sox6 (Rattus norvegicus - Norway rat) |
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| Sox6 (Chinchilla lanigera - long-tailed chinchilla) |
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| SOX6 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SOX6 (Canis lupus familiaris - dog) |
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| Sox6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SOX6 (Sus scrofa - pig) |
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| SOX6 (Chlorocebus sabaeus - African green monkey) |
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| Sox6 (Heterocephalus glaber - naked mole-rat) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Position Markers| D11S1397 |
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| SHGC-37207 |
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| RH45425 |
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| WI-17892 |
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| RH94315 |
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| SHGC-83873 |
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| SHGC-82799 |
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| SHGC-83953 |
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| RH120774 |
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| G63381 |
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| UniSTS:144491 |
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| D11S2872 |
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| D11S4042 |
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| SHGC-104674 |
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| A010A46 |
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| SHGC-153595 |
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| SHGC-83438 |
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| SOX6_844 |
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| WI-16902 |
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| RH68714 |
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| G30608 |
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| SHGC-35069 |
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| RH65285 |
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| D11S4044 |
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| WI-17844 |
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| D11S2336 |
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| STS-H69535 |
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| G33060 |
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miRNA Target Status
Confirmed Target Of
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
RNA-SEQ ExpressionHigh: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM
| alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | |
| High | |||||||||||||||||
| Medium | 11 | 20 | 11 | 11 | 6 | 11 | 117 | 54 | 65 | 17 | 116 | 13 | 1 | 83 | |||
| Low | 2015 | 2084 | 1606 | 458 | 534 | 396 | 3977 | 1893 | 3508 | 348 | 1051 | 1395 | 66 | 1127 | 2697 | 2 | |
| Below cutoff | 386 | 879 | 97 | 148 | 1181 | 53 | 252 | 243 | 138 | 43 | 270 | 177 | 107 | 1 | 76 | 8 | 1 |
View RNA-SEQ Expression Data
Sequence
Nucleotide Sequences| RefSeq Transcripts | NG_012881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001145811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001145819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_001367873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_017508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| NM_033326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC009869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AC013595 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC026639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC027016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC068405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC100865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AC103794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AF309034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AH010570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK021785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK097455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK310506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL136780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL833302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC029429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC037866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC047064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB080840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB093816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| HF584301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF510365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| X65663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | ENST00000316399 ⟹ ENSP00000324948 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000396356 ⟹ ENSP00000379644 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000524520 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000524650 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000525259 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000525835 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000526673 ⟹ ENSP00000434892 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000527619 ⟹ ENSP00000434455 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000527840 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000528252 ⟹ ENSP00000432134 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000528429 ⟹ ENSP00000433233 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000529469 ⟹ ENSP00000432596 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000530378 ⟹ ENSP00000432577 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000531297 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000533411 ⟹ ENSP00000436170 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000533658 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000533870 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000655819 ⟹ ENSP00000499737 | ||||||||
| RefSeq Status: | |||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001145811 ⟹ NP_001139283 | ||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
CCTTGGGGTTAGTTTTAGTCATATTTTTATCTCTATAAAACATCAGGCTGGGAGGTGGTGTGTGhide sequence |
| RefSeq Acc Id: | NM_001145819 ⟹ NP_001139291 | ||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
AGTTGTTAGGAGAGACCATTGGGGATAGGAAAGATGAAAGGTCATGGTGAGCTTCAAGGACATGhide sequence |
| RefSeq Acc Id: | NM_001367872 ⟹ NP_001354801 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001367873 ⟹ NP_001354802 | ||||||||
| RefSeq Status: | REVIEWED | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_017508 ⟹ NP_059978 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
AGTTGTTAGGAGAGACCATTGGGGATAGGAAAGATGAAAGGTCATGGTGAGCTTCAAGGACATGhide sequence |
| RefSeq Acc Id: | NM_033326 ⟹ NP_201583 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GTCACTTTCATGAATTCAAAGGCAATTTACCAGTGATTTCTGGGTGCTGGGGCTGATATTTTTThide sequence |
Protein Sequences| Protein RefSeqs | NP_001139283 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001139291 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354801 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001354802 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_059978 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_201583 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH47064 | (Get FASTA) | NCBI Sequence Viewer |
| AAK26115 | (Get FASTA) | NCBI Sequence Viewer | |
| AAK26243 | (Get FASTA) | NCBI Sequence Viewer | |
| AAK26244 | (Get FASTA) | NCBI Sequence Viewer | |
| CAA46614 | (Get FASTA) | NCBI Sequence Viewer | |
| CAB66714 | (Get FASTA) | NCBI Sequence Viewer | |
| CCQ43798 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW68458 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW68459 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW68460 | (Get FASTA) | NCBI Sequence Viewer | |
| P35712 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_201583 ⟸ NM_033326 |
| - Peptide Label: | isoform c |
| - UniProtKB: | P35712 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKPHSEELPTLVSTIQhide sequence |
| RefSeq Acc Id: | NP_001139283 ⟸ NM_001145811 |
| - Peptide Label: | isoform b |
| - UniProtKB: | P35712 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKPHSEELPTLVSTIQhide sequence |
| RefSeq Acc Id: | NP_001139291 ⟸ NM_001145819 |
| - Peptide Label: | isoform a |
| - Sequence: |
MKGHGELQGHERRMSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKPhide sequence |
| RefSeq Acc Id: | NP_059978 ⟸ NM_017508 |
| - Peptide Label: | isoform b |
| - Sequence: |
MGRMSSKQATSPFACAADGEDAMTQDLTSREKEEGSDQHVASHLPLHPIMHNKPHSEELPTLVShide sequence |
| RefSeq Acc Id: | NP_001354801 ⟸ NM_001367872 |
| - Peptide Label: | isoform d |
| RefSeq Acc Id: | NP_001354802 ⟸ NM_001367873 |
| - Peptide Label: | isoform a |
| RefSeq Acc Id: | ENSP00000432577 ⟸ ENST00000530378 |
| RefSeq Acc Id: | ENSP00000436170 ⟸ ENST00000533411 |
| RefSeq Acc Id: | ENSP00000499737 ⟸ ENST00000655819 |
| RefSeq Acc Id: | ENSP00000324948 ⟸ ENST00000316399 |
| RefSeq Acc Id: | ENSP00000434892 ⟸ ENST00000526673 |
| RefSeq Acc Id: | ENSP00000434455 ⟸ ENST00000527619 |
| RefSeq Acc Id: | ENSP00000433233 ⟸ ENST00000528429 |
| RefSeq Acc Id: | ENSP00000432134 ⟸ ENST00000528252 |
| RefSeq Acc Id: | ENSP00000379644 ⟸ ENST00000396356 |
| RefSeq Acc Id: | ENSP00000432596 ⟸ ENST00000529469 |
Promoters| RGD ID: | 7219741 | ||||||||
| Promoter ID: | EPDNEW_H15615 | ||||||||
| Type: | initiation region | ||||||||
| Name: | SOX6_2 | ||||||||
| Description: | SRY-box 6 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H15616 | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| RGD ID: | 7219739 | ||||||||
| Promoter ID: | EPDNEW_H15616 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | SOX6_1 | ||||||||
| Description: | SRY-box 6 | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Alternative Promoters: | null; see alsoEPDNEW_H15615 | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 11p15.2(chr11:16101236-16446623)x1 | copy number loss | See cases [RCV000051188] | Chr11:16101236..16446623 [GRCh38] Chr11:16122782..16468170 [GRCh37] Chr11:16079358..16424746 [NCBI36] Chr11:11p15.2 |
uncertain significance |
| GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 | copy number gain | See cases [RCV000053613] | Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13 |
pathogenic |
| NM_033326.3(SOX6):c.875C>T (p.Pro292Leu) | single nucleotide variant | Malignant melanoma [RCV000069269] | Chr11:16111826 [GRCh38] Chr11:16133372 [GRCh37] Chr11:16089948 [NCBI36] Chr11:11p15.2 |
not provided |
| NM_033326.3(SOX6):c.778-24651A>G | single nucleotide variant | Lung cancer [RCV000109890] | Chr11:16136574 [GRCh38] Chr11:16158120 [GRCh37] Chr11:11p15.2 |
uncertain significance |
| GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 | copy number gain | See cases [RCV000133997] | Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1 |
pathogenic |
| GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1 | copy number loss | See cases [RCV000136773] | Chr11:9989516..16825806 [GRCh38] Chr11:10011063..16847353 [GRCh37] Chr11:9967639..16803929 [NCBI36] Chr11:11p15.4-15.2 |
pathogenic |
| NM_033326.3(SOX6):c.1733-63C>T | single nucleotide variant | not specified [RCV000601047] | Chr11:15989233 [GRCh38] Chr11:16010779 [GRCh37] Chr11:11p15.2 |
likely benign |
| NM_033326.3(SOX6):c.718C>T (p.Gln240Ter) | single nucleotide variant | not provided [RCV000599602] | Chr11:16183945 [GRCh38] Chr11:16205491 [GRCh37] Chr11:11p15.2 |
uncertain significance |
| GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 | copy number gain | See cases [RCV000511561] | Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 | copy number gain | See cases [RCV000512225] | Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3 |
pathogenic |
| GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 | copy number gain | See cases [RCV000512477] | Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
| GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 | copy number gain | not provided [RCV000683372] | Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1 |
pathogenic |
| GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.1(chr11:16289928-16305351)x3 | copy number gain | not provided [RCV000737441] | Chr11:16289928..16305351 [GRCh37] Chr11:11p15.1 |
benign |
| GRCh37/hg19 11p15.1(chr11:16299564-16304261)x4 | copy number gain | not provided [RCV000737442] | Chr11:16299564..16304261 [GRCh37] Chr11:11p15.1 |
benign |
| GRCh37/hg19 11p15.1(chr11:16299564-16305699)x3 | copy number gain | not provided [RCV000737443] | Chr11:16299564..16305699 [GRCh37] Chr11:11p15.1 |
benign |
| GRCh37/hg19 11p15.1(chr11:16299809-16305699)x3 | copy number gain | not provided [RCV000737444] | Chr11:16299809..16305699 [GRCh37] Chr11:11p15.1 |
benign |
| GRCh37/hg19 11p15.1(chr11:16453182-16504966)x3 | copy number gain | not provided [RCV000737445] | Chr11:16453182..16504966 [GRCh37] Chr11:11p15.1 |
benign |
| GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
| GRCh37/hg19 11p15.2-15.1(chr11:15993761-16494570)x1 | copy number loss | not provided [RCV000749962] | Chr11:15993761..16494570 [GRCh37] Chr11:11p15.2-15.1 |
benign |
| GRCh37/hg19 11p15.2(chr11:16140423-16152706)x3 | copy number gain | not provided [RCV000749963] | Chr11:16140423..16152706 [GRCh37] Chr11:11p15.2 |
benign |
| GRCh37/hg19 11p15.2-15.1(chr11:16192283-16228217)x3 | copy number gain | not provided [RCV000749964] | Chr11:16192283..16228217 [GRCh37] Chr11:11p15.2-15.1 |
benign |
| GRCh37/hg19 11p15.2-15.1(chr11:16192283-16308502)x3 | copy number gain | not provided [RCV000749965] | Chr11:16192283..16308502 [GRCh37] Chr11:11p15.2-15.1 |
benign |
| GRCh37/hg19 11p15.2-15.1(chr11:16192283-16308668)x3 | copy number gain | not provided [RCV000749966] | Chr11:16192283..16308668 [GRCh37] Chr11:11p15.2-15.1 |
benign |
| GRCh37/hg19 11p15.2-15.1(chr11:16193033-16231667)x3 | copy number gain | not provided [RCV000749967] | Chr11:16193033..16231667 [GRCh37] Chr11:11p15.2-15.1 |
benign |
| GRCh37/hg19 11p15.2-15.1(chr11:16195869-16308668)x3 | copy number gain | not provided [RCV000749968] | Chr11:16195869..16308668 [GRCh37] Chr11:11p15.2-15.1 |
benign |
| GRCh37/hg19 11p15.1(chr11:16219432-16228217)x3 | copy number gain | not provided [RCV000749969] | Chr11:16219432..16228217 [GRCh37] Chr11:11p15.1 |
benign |
| GRCh37/hg19 11p15.1(chr11:16277934-16308502)x3 | copy number gain | not provided [RCV000749970] | Chr11:16277934..16308502 [GRCh37] Chr11:11p15.1 |
benign |
| GRCh37/hg19 11p15.1(chr11:16280479-16308502)x3 | copy number gain | not provided [RCV000749971] | Chr11:16280479..16308502 [GRCh37] Chr11:11p15.1 |
benign |
| GRCh37/hg19 11p15.1(chr11:16288061-16308668)x3 | copy number gain | not provided [RCV000749972] | Chr11:16288061..16308668 [GRCh37] Chr11:11p15.1 |
benign |
| SOX6, 84-KB DEL, EX14-16DEL | deletion | not provided [RCV000856571] | Chr11:11p15.2 | uncertain significance |
| GRCh37/hg19 11p15.1(chr11:16436272-18064677)x3 | copy number gain | not provided [RCV000848487] | Chr11:16436272..18064677 [GRCh37] Chr11:11p15.1 |
uncertain significance |
| GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 | copy number gain | not provided [RCV001006388] | Chr11:13970757..27565888 [GRCh37] Chr11:11p15.2-14.1 |
pathogenic |
| GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 | copy number gain | not provided [RCV001006387] | Chr11:11053978..34732891 [GRCh37] Chr11:11p15.3-13 |
pathogenic |
| GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 | copy number gain | not provided [RCV001006372] | Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:16421 | AgrOrtholog |
| COSMIC | SOX6 | COSMIC |
| Ensembl Genes | ENSG00000110693 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000324948 | UniProtKB/Swiss-Prot |
| ENSP00000379644 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000432134 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000432577 | UniProtKB/TrEMBL | |
| ENSP00000432596 | UniProtKB/TrEMBL | |
| ENSP00000433233 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000434455 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000434892 | UniProtKB/TrEMBL | |
| ENSP00000436170 | UniProtKB/TrEMBL | |
| ENSP00000499737 | UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000316399 | UniProtKB/Swiss-Prot |
| ENST00000396356 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000526673 | UniProtKB/TrEMBL | |
| ENST00000527619 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000528252 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000528429 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000529469 | UniProtKB/TrEMBL | |
| ENST00000530378 | UniProtKB/TrEMBL | |
| ENST00000533411 | UniProtKB/TrEMBL | |
| ENST00000655819 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.10.30.10 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000110693 | GTEx |
| HGNC ID | HGNC:16421 | ENTREZGENE |
| Human Proteome Map | SOX6 | Human Proteome Map |
| InterPro | HMG_box_dom | UniProtKB/Swiss-Prot |
| HMG_box_dom_sf | UniProtKB/Swiss-Prot | |
| SOX-5/6 | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:55553 | UniProtKB/Swiss-Prot |
| NCBI Gene | 55553 | ENTREZGENE |
| OMIM | 607257 | OMIM |
| PANTHER | PTHR45789:SF1 | UniProtKB/Swiss-Prot |
| Pfam | HMG_box | UniProtKB/Swiss-Prot |
| PharmGKB | PA38137 | PharmGKB |
| PROSITE | HMG_BOX_2 | UniProtKB/Swiss-Prot |
| SMART | HMG | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF47095 | UniProtKB/Swiss-Prot |
| UniGene | Hs.368226 | ENTREZGENE |
| UniProt | E9PN02_HUMAN | UniProtKB/TrEMBL |
| E9PQ67_HUMAN | UniProtKB/TrEMBL | |
| E9PQ78_HUMAN | UniProtKB/TrEMBL | |
| E9PQL4_HUMAN | UniProtKB/TrEMBL | |
| L8EBC2_HUMAN | UniProtKB/TrEMBL | |
| P35712 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| UniProt Secondary | Q86VX7 | UniProtKB/Swiss-Prot |
| Q9BXQ3 | UniProtKB/Swiss-Prot | |
| Q9BXQ4 | UniProtKB/Swiss-Prot | |
| Q9BXQ5 | UniProtKB/Swiss-Prot | |
| Q9H0I8 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2019-06-18 | SOX6 | SRY-box transcription factor 6 | SOX6 | SRY-box 6 | Symbol and/or name change | 5135510 | APPROVED |
| 2015-12-01 | SOX6 | SRY-box 6 | SRY box 6 | Symbol and/or name change | 5135510 | APPROVED | |
| 2015-11-10 | SOX6 | SRY box 6 | SRY (sex determining region Y)-box 6 | Symbol and/or name change | 5135510 | APPROVED | |
| 2011-08-17 | SOX6 | SRY (sex determining region Y)-box 6 | SOX6 | SRY (sex determining region Y)-box 6 | Symbol and/or name change | 5135510 | APPROVED |
 |
| More on SOX6 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 1319098 |
| Created: | 2005-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2020-08-04 |
| Status: | ACTIVE |
