BTBD16

Chr 10

BTB domain containing 16

Also known as: C10orf87

NCBI Gene: 118663ENSG00000138152UniProt: Q32M84

This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.25
LOEUF
—
Mechanism
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?
1.25LOEUF
pLI 0.000
Z-score 0.49
OE 0.90 (0.67–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.36Z-score
OE missense 0.94 (0.85–1.04)
265 obs / 281.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.67–1.25)
0≤0.351.4
Missense OE?0.94 (0.85–1.04)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 27 / 29.9Missense obs/exp: 265 / 281.8Syn Z: -1.30

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BTBD16 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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