ARHGAP31 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ARHGAP31 (HGNC:29216) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- Rho GTPase activating protein 31
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- CDGAP
- %HI
- 37.14(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
- 3q13.32-q13.33
- Genomic Coordinates
-
GRCh37/hg19: chr3:119013230-119139561 NCBI Ensembl UCSC GRCh38/hg38: chr3:119294383-119420714 NCBI Ensembl UCSC - MANE Select Transcript
- NM_020754.4 ENST00000264245.9 (Read more about MANE Select)
- Function
- Functions as a GTPase-activating protein (GAP) for RAC1 and CDC42. Required for cell spreading, polarized lamellipodia formation and cell migration. {ECO:0000269|PubMed:12192056, ECO:0000269|PubMed:16519628}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-19647
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Assoc. with Reduced Penetrance:
Yes
Southgate et al (PMID: 21565291), family AOS-5 with c.3260delA, p.Lys1087Ser fs*4 has one asymptomatic carrier
Last Evaluated:
06/13/2023
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Various publications describe variants in ARHGAP31 in individuals with Adams Oliver Syndrome (per OMIM, characterized by "aplasia cutis congenita of the scalp vertex and terminal transverse limb defects") and/ or isolated transverse terminal limb defects (PMIDs: 21565291, 24668619, 29924900, etc.). To date, all reported variants are clustered in the last exon, are premature truncations, and are not expected to undergo nonsense mediated decay. Some publications (for example, PMID: 21565291) have experimental evidence to indicate that these variants may lead to constitutively active ARHGAP31 resulting in a loss of available active Cdc42 and consequent disruption of actin cytoskeletal structures. At this time, there is no evidence that haploinsufficiency of this gene causes disease phenotype.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No focal duplications of this gene have been reported to be associated with an abnormal phenotype at the time of this review.
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)