SORBS3

Chr 8

sorbin and SH3 domain containing 3

Also known as: SCAM-1, SCAM1, SH3D4

This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this protein's ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
0.80
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 2.61
OE 0.57 (0.420.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.92Z-score
OE missense 1.13 (1.041.22)
476 obs / 422.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.57 (0.420.80)
00.351.4
Missense OE?1.13 (1.041.22)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 25 / 43.6Missense obs/exp: 476 / 422.6Syn Z: -0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SORBS3 · 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

No active trials found for this gene.

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