SASH1

Chr 6

SAM and SH3 domain containing 1

Also known as: CAPOK, DUH, DUH1, SH3D6A, dJ323M4.1

NCBI Gene: 23328ENSG00000111961UniProt: O94885

This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDyschromatosis universalis hereditaria 1
UniProtCancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
24
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.44
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.002
Z-score 4.89
OE 0.29 (0.20–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.60Z-score
OE missense 0.94 (0.88–1.00)
701 obs / 747.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.29 (0.20–0.44)
0≤0.351.4
Missense OE?0.94 (0.88–1.00)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 16 / 55.2Missense obs/exp: 701 / 747.5Syn Z: -0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SASH1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients