RNF39

Chr 6

ring finger protein 39

Also known as: FAP216, HZF, HZFW, LIRF

This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
1.19
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.19LOEUF
pLI 0.000
Z-score 1.07
OE 0.68 (0.411.19)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.34Z-score
OE missense 0.75 (0.660.85)
163 obs / 218.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.411.19)
00.351.4
Missense OE?0.75 (0.660.85)
00.61.4
Synonymous OE?0.69
01.21.6
LoF obs/exp: 9 / 13.2Missense obs/exp: 163 / 218.6Syn Z: 2.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RNF39 · 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 →