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)