SORBS1

Chr 10

sorbin and SH3 domain containing 1

Also known as: CAP, FLAF2, R85FL, SH3D5, SH3P12, SORB1

NCBI Gene: 10580ENSG00000095637UniProt: Q9BX66

This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ResearchGenerating clinical summary…
0
Active trials
19
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
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?
0.59LOEUF
pLI 0.000
Z-score 4.44
OE 0.44 (0.34–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.50Z-score
OE missense 0.85 (0.79–0.90)
625 obs / 739.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.34–0.59)
0≤0.351.4
Missense OE?0.85 (0.79–0.90)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 33 / 74.3Missense obs/exp: 625 / 739.5Syn Z: 1.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SORBS1 · 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