BNIPL

Chr 1

BCL2 interacting protein like

Also known as: BNIP-S, BNIP-Salpha, BNIP-Sbeta, BNIPL-1, BNIPL-2, BNIPL1, BNIPL2, BNIPS

The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating clinical summary…
LOEUF 1.20
Clinical SummaryBNIPL
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
44 VUS of 51 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.20LOEUF
pLI 0.000
Z-score 0.84
OE 0.80 (0.551.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.92Z-score
OE missense 0.82 (0.720.93)
169 obs / 206.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.80 (0.551.20)
00.351.4
Missense OE?0.82 (0.720.93)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 17 / 21.2Missense obs/exp: 169 / 206.1Syn Z: 0.68

ClinVar Variant Classifications

51 submitted variants in ClinVar

Classification Summary

VUS44
Likely Benign2
44
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
44
0
0
44
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total0460046

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

16 pathogenic / likely-pathogenic (of 18) ClinVar copy-number / structural variants overlap BNIPL — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

BNIPL · 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 →