TRIOBP |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TRIOBP (HGNC:17009) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- TRIO and F-actin binding protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DFNB28
- Alias symbols
- HRIHFB2122, KIAA1662, Tara, TAP68
- %HI
- 54.57(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.71(Read more about gnomAD LOEUF score)
- Cytoband
- 22q13.1
- Genomic Coordinates
-
GRCh37/hg19: chr22:38093055-38172563 NCBI Ensembl UCSC GRCh38/hg38: chr22:37697048-37776556 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001039141.3 ENST00000644935.1 (Read more about MANE Select)
- Function
- [Isoform 1]: Regulates actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin and prevents its depolymerization (PubMed:18194665, PubMed:28438837). May also serve as a linker protein to recruit proteins required for F-actin formation and turnover (PubMed:18194665). Essential for correct mitotic progression (PubMed:24692559, PubMed:22820163). {ECO:0000269|PubMed:18194665, ECO:0000269|PubMed:22820163, ECO:0000269|PubMed:24692559... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-33054
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:
- autosomal recessive nonsyndromic hearing loss 28 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)