YAP1

Chr 11AD

Yes1 associated transcriptional regulator

Also known as: COB1, YAP, YAP-1, YAP2, YAP65, YKI

NCBI Gene: 10413ENSG00000137693UniProt: P46937OMIM: 606608

This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentMIM #120433
AD

Clinical highlights

Gene–disease validity
Not independently assessedOMIM lists Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development; no ClinGen or GenCC tier
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
834
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.19
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — YAP1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.19LOEUF
pLI 0.999
Z-score 4.44
OE 0.04 (0.01–0.19)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.78Z-score
OE missense 0.70 (0.62–0.79)
189 obs / 271.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.04 (0.01–0.19)
0≤0.351.4
Missense OE?0.70 (0.62–0.79)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 1 / 25.0Missense obs/exp: 189 / 271.3Syn Z: -0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

YAP1 · protein map & ClinVar variants

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

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