BAIAP3

Chr 16

BAI1 associated protein 3

Also known as: BAP3

This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.03
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.03LOEUF
pLI 0.000
Z-score 1.31
OE 0.83 (0.671.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.86Z-score
OE missense 1.09 (1.031.15)
827 obs / 760.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.83 (0.671.03)
00.351.4
Missense OE?1.09 (1.031.15)
00.61.4
Synonymous OE?1.14
01.21.6
LoF obs/exp: 55 / 66.5Missense obs/exp: 827 / 760.5Syn Z: -2.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

BAIAP3 · 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 →