RASA1 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RASA1 (HGNC:9871) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- RAS p21 protein activator 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- RASA
- Alias symbols
- GAP, CM-AVM, p120GAP, p120RASGAP, p120
- %HI
- 2.57(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.13(Read more about gnomAD LOEUF score)
- Cytoband
- 5q14.3
- Genomic Coordinates
-
GRCh37/hg19: chr5:86563700-86687733 NCBI Ensembl UCSC GRCh38/hg38: chr5:87267883-87391916 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002890.3 ENST00000274376.11 (Read more about MANE Select)
- Function
- Inhibitory regulator of the Ras-cyclic AMP pathway. Stimulates the GTPase of normal but not oncogenic Ras p21; this stimulation may be further increased in the presence of NCK1. {ECO:0000269|PubMed:11389730, ECO:0000269|PubMed:8360177}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22118
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/22/2020
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- capillary malformation-arteriovenous malformation 1 Monarch
HI Evidence:
-
PUBMED:
24038909
Revencu et al., 2013 reported mutations in RASA1 in 68 index patients with capillary malformation-arteriovenous malformation (CM-AVM). 70 additional family members were found to have the familial RASA1 mutation as well. Of the 138 total, 136 exhibited capillary malformations. 58 different mutations were reported, 43 novel and 15 previously described in the literature and most are consistent with loss -of-function and haploinsufficiency. Mutations were reported across the gene and no genotype/phenotype correlation was identified.
-
PUBMED:
29891884
An additional 60 deleterious variants (including 5 large deletions), and 9 variants of unknown significance were reported by Wooderchak-Donahue 2017 (PMID 29891884) from a cohort of 281 unrelated individuals submitted for clinical RASA1 testing. Though detailed phenotype information was not provided for all patients found to have RASA1 variants, 75% were reported to have capillary malformations and those without reported capillary malformations were reported to have arteriovenous malformations.
HI Evidence Comments:
Per OMIM: "Capillary malformation-arteriovenous malformation-1 is an autosomal dominant disorder characterized by atypical capillary malformations (CMs), often in association with fast-flow vascular malformations, including arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs), and Parkes Weber syndrome (PKWS). "
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)