SOBP |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SOBP (HGNC:29256) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- sine oculis binding protein homolog
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ10159
- %HI
- 8.51(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.19(Read more about gnomAD LOEUF score)
- Cytoband
- 6q21
- Genomic Coordinates
-
GRCh37/hg19: chr6:107811321-107982510 NCBI Ensembl UCSC GRCh38/hg38: chr6:107490117-107661306 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018013.4 ENST00000317357.10 (Read more about MANE Select)
- Function
- Implicated in development of the cochlea. {ECO:0000250|UniProtKB:Q0P5V2}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-7642
ClinGen Curation ID:
CCID:007915
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- intellectual disability, anterior maxillary protrusion, and strabismus Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)