TDRD6

Chr 6

tudor domain containing 6

Also known as: CT41.2, NY-CO-45, SPATA36, TDR2, bA446F17.4

This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.22
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?
1.22LOEUF
pLI 0.000
Z-score 0.05
OE 0.99 (0.821.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.28Z-score
OE missense 1.19 (1.141.25)
1302 obs / 1089.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.99 (0.821.22)
00.351.4
Missense OE?1.19 (1.141.25)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 68 / 68.4Missense obs/exp: 1302 / 1089.8Syn Z: -1.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TDRD6 · 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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