• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SOX8 (HGNC:11203) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SRY-box transcription factor 8
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
50.08(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.67(Read more about gnomAD pLI score)
LOEUF
0.51(Read more about gnomAD LOEUF score)
Cytoband
16p13.3
Genomic Coordinates
GRCh37/hg19: chr16:1031770-1036979 NCBI Ensembl UCSC
GRCh38/hg38: chr16:981770-986979 NCBI Ensembl UCSC
MANE Select Transcript
NM_014587.5 ENST00000293894.4 (Read more about MANE Select)
Function
Transcription factor that may play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity). {ECO:0000250|UniProtKB:Q04886}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6215
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 18492098
    Bezerra et al described several familial carriers of a heterozygous (1Mb) 16pter deletion involving the SOX8 gene, which was detected by MLPA. All three carriers of the deletion were phenotypically normal.
HI Evidence Comments:
Terminal deletions in chromosome 16pter, extending to and including the SOX8 gene, have been associated with alpha-thalassemia mental retardation syndrome (ATR-16), a contiguous gene deletion syndrome. It has been generally proposed that SOX8 is a good candidate gene contributing to the mental retardation phenotype seen in ATR-16 patients (PMIDs 10662550, 18076105 and 10631133). Notably, the report by Bezarra et al (18492098) is not consistent with this. Gibson et al. (2008) reported an 8-year-old girl with ATR-16 syndrome associated with a do novo submicroscopic terminal deletion at chromosome 16p encompassing at least 1 Mb and including the SOX8 gene. Gibson et al. (2008) noted that isolated monosomy for chromosome 16p is rarely described, as most patients with this disorder have complex translocations or karyotypic abnormalities (PMID: 18492098)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No Identified Literature.

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)