TMSB4Y

Chr Y

thymosin beta 4 Y-linked

Also known as: TB4Y

This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

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.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
1.86
LOEUF
GOF
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?
1.86LOEUF
pLI 0.319
Z-score 0.55
OE 0.00 (0.001.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.50Z-score
OE missense 1.64 (0.881.95)
8 obs / 4.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.00 (0.001.86)
00.351.4
Missense OE?1.64 (0.881.95)
00.61.4
Synonymous OE?2.11
01.21.6
LoF obs/exp: 0 / 0.4Missense obs/exp: 8 / 4.9Syn Z: -0.85

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TMSB4Y · 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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