TBC1D20 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- TBC1D20 (HGNC:16133) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- TBC1 domain family member 20
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C20orf140
- Alias symbols
- dJ852M4.2
- %HI
- 34.62(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.99(Read more about gnomAD pLI score)
- LOEUF
- 0.47(Read more about gnomAD LOEUF score)
- Cytoband
- 20p13
- Genomic Coordinates
-
GRCh37/hg19: chr20:416124-443177 NCBI Ensembl UCSC GRCh38/hg38: chr20:435480-462533 NCBI Ensembl UCSC - MANE Select Transcript
- NM_144628.4 ENST00000354200.5 (Read more about MANE Select)
- Function
- GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude (PubMed:23236136). Involved in maintaining endoplasmic reticulum structure (PubMed:24891604). {ECO:0000269|PubMed:23236136, ECO:0000269|PubMed:24891604}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9890
ClinGen Curation ID:
CCID:007971
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:
- Warburg micro syndrome 4 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000020.10)
(NC_000020.11)