TRIM36

Chr 5AR

tripartite motif containing 36

Also known as: ANPH, ANPH1, HAPRIN, RBCC728, RNF98

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Anencephaly 1MIM #206500
AR
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
0.66
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.66LOEUF
pLI 0.000
Z-score 3.04
OE 0.41 (0.270.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.40Z-score
OE missense 1.06 (0.971.15)
406 obs / 384.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.41 (0.270.66)
00.351.4
Missense OE?1.06 (0.971.15)
00.61.4
Synonymous OE?1.19
01.21.6
LoF obs/exp: 13 / 31.4Missense obs/exp: 406 / 384.1Syn Z: -1.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRIM36 · 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.

Search ClinicalTrials.gov →