RAP1B

Chr 12

RAP1B, member of RAS oncogene family

Also known as: K-REV, RAL1B, THC11

NCBI Gene: 5908ENSG00000127314UniProt: P61224

This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtThrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies

Clinical highlights

Gene-disease validity (ClinGen)
thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies · ADModerateconsider for supplementary testing
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.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
51
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.39
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — RAP1B
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.39LOEUF
pLI 0.910
Z-score 2.96
OE 0.08 (0.03–0.39)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.60Z-score
OE missense 0.25 (0.18–0.35)
24 obs / 95.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.08 (0.03–0.39)
0≤0.351.4
Missense OE?0.25 (0.18–0.35)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 1 / 12.1Missense obs/exp: 24 / 95.5Syn Z: -0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RAP1B · 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