SOS1 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SOS1 (HGNC:11187) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SOS Ras/Rac guanine nucleotide exchange factor 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- GINGF
- Alias symbols
- HGF, GF1
- %HI
- 4.03(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.14(Read more about gnomAD LOEUF score)
- Cytoband
- 2p22.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:39208690-39352009 NCBI Ensembl UCSC GRCh38/hg38: chr2:38981549-39124868 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005633.4 ENST00000402219.8 (Read more about MANE Select)
- Function
- Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity). {ECO:0000250|UniProtKB:Q62245, ECO:0000269|PubMed:17339331, ECO:0000269|PubMed:8493579}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-30809
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/30/2012
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
PMID:21387466
Per this reference, all SOS1 mutations that have been described in association with Noonan syndrome have been missense mutations that are thought to result in gain of function. No nonsense or deletion mutations have been described at this time.
HI Evidence Comments:
There has been a report of an insertion mutation that introduced a frameshift and created a premature stop codon in association with hereditary gingival fibromatosis (PMID: 11868160). Please note that the ISCA loss of function score has been assigned based on the Noonan syndrome phenotype.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)