BNIP5

Gene

BCL2 interacting protein 5

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C6orf222

MANE transcript

NM_001010903.5

Inheritance

—

ClinVar variants

U:6B:5

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.98

Max pathogenic AF

—

Genomic locus

chr6:36,315,761-36,336,888

External References & Databases

Ensembl (ENSG00000189325)

Transcript & Mutation Effects

hg38 • Region Span ~21.1 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 BNIP5 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 6

not providedTotal: 2

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001010903.5. 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			5 clinvar	5 clinvar		10
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	6	5	0	11

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001010903.5	RefSeq	NP_001010903.3	11	MANE Select
ENST00000437635.3	Ensembl	ENSP00000418983.1	11	MANE Select
ENST00000860604.1	Ensembl	ENSP00000530663.1	11	Standard
ENST00000860605.1	Ensembl	ENSP00000530664.1	10	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000437635
Coding exons: 11
Length: 21129
Individuals with no LoFs: 125619
Homozygous LoFs: 0
Heterozygous LoFs: 129
Defined: 125748
p: 0.000513

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.981	422	369	1.14	0.0000206	4255
Missense (PolyPhen)		77	63.227	1.2178		673
Synonymous	-0.501	161	153	1.05	0.00000991	1295
Loss of Function	0.124	31	31.8	0.976	0.00000179	344

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00035	0.00035	rare
Ashkenazi Jewish	0.00030	0.00030	rare
East Asian	0.00077	0.00071	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00062	0.00061	rare
South Asian	0.00069	0.00069	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.961
RVIS EVS: -0.15
RVIS percentile EVS: 42.3

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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