Gene Facts External Data Attribution

HGNC Symbol
SOX7 (HGNC:18196) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SRY-box transcription factor 7
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
24.36(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.2(Read more about gnomAD LOEUF score)
Cytoband
8p23.1
Genomic Coordinates
GRCh37/hg19: chr8:10581278-10588021 NCBI Ensembl UCSC
GRCh38/hg38: chr8:10723768-10730511 NCBI Ensembl UCSC
MANE Select Transcript
NM_031439.4 ENST00000304501.2 (Read more about MANE Select)
Function
Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the survival of both hematopoietic and endothelial precursors during specification (By similarity). Competes with GATA4 for binding and activation of the FGF3 promoter (By similarity). Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTN... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35349
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)