SOX6 |
Gene Facts External Data Attribution
- HGNC Symbol
- SOX6 (HGNC:16421) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SRY-box transcription factor 6
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 0.59(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.22(Read more about gnomAD LOEUF score)
- Cytoband
- 11p15.2
- Genomic Coordinates
-
GRCh37/hg19: chr11:15987995-16760024 NCBI Ensembl UCSC GRCh38/hg38: chr11:15966449-16738477 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001367873.1 ENST00000683767.1 (Read more about MANE Select)
- Function
- Transcription factor that plays a key role in several developmental processes, including neurogenesis, chondrocytes differentiation and cartilage formation (Probable). Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis. Required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes: SOX5 and SOX6 cooperatively bind with SOX9 on active enhancers and super... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9293
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)