• 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)