SOX8 |
- 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)