YES1

Chr 18

YES proto-oncogene 1, Src family tyrosine kinase

Also known as: HsT441, P61-YES, Yes, c-yes

NCBI Gene: 7525ENSG00000176105UniProt: P07947

This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
2
Active trials
56
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.000
Z-score 3.09
OE 0.41 (0.27–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.16Z-score
OE missense 0.81 (0.72–0.90)
232 obs / 287.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.41 (0.27–0.65)
0≤0.351.4
Missense OE?0.81 (0.72–0.90)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 13 / 31.8Missense obs/exp: 232 / 287.4Syn Z: -0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

YES1 · 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