SOX7 |
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)