BNIPL

protein-coding

BCL2 interacting protein like, the group of BCH domain containing

Gene summary

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]

MANE transcript

NM_138278.4

Inheritance

—

ClinVar variants

U:46B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr1:151,036,321-151,047,720

External References & Databases

Ensembl (ENSG00000163141)

Transcript & Mutation Effects

hg38 • Region Span ~11.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BNIPL variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 46

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138278.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			44 clinvar	2 clinvar		46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	46	2	0	48

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_138278.4	RefSeq	NP_612122.2	10	MANE Select
ENST00000368931.8	Ensembl	ENSP00000357927.3	10	MANE Select
NM_001159642.2	RefSeq	NP_001153114.1	7	Standard
ENST00000295294.11	Ensembl	ENSP00000295294.7	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

polyphosphate catabolic process
apoptotic process
negative regulation of cell population proliferation
regulation of growth rate

Molecular Function

exopolyphosphatase activity
protein binding
identical protein binding

Cellular Component

nucleus
cytoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000368931
Coding exons: 10
Length: 11031
Individuals with no LoFs: 125572
Homozygous LoFs: 0
Heterozygous LoFs: 175
Defined: 125747
p: 0.000696

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.919	169	206	0.820	0.0000117	2270
Missense (PolyPhen)		60	69.994	0.85722		835
Synonymous	0.677	66	73.4	0.899	0.00000353	739
Loss of Function	0.844	17	21.2	0.802	0.00000125	223

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0026	0.0025	notable
Latino/Admixed American	0.0015	0.0015	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0.0016	0.0016	notable
European (Non-Finnish)	0.00029	0.00028	rare
South Asian	0.000098	0.000098	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. {ECO:0000269|PubMed:12901880}.;

Recessive Scores

pRec: 0.0903

Intolerance Scores

LoFtool: 0.985
RVIS EVS: 0.53
RVIS percentile EVS: 80.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.572

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium