BNIP5

BCL2 interacting protein 5

Basic information

Region (hg38): 6:36315761-36336888

Previous symbols: [ "C6orf222" ]

Links

ENSG00000189325 ∙ NCBI:389384 ∙ ∙ HGNC:33769 ∙ Uniprot:P0C671 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BNIP5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BNIP5 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			2	5		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	5	0

Variants in BNIP5

This is a list of pathogenic ClinVar variants found in the BNIP5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-36317376-T-C		not specified	Likely benign (Oct 22, 2021)
6-36323317-G-A		Malignant tumor of prostate	Uncertain significance (-)
6-36328609-T-C		not specified	Likely benign (Jun 22, 2021)
6-36330116-C-T			Likely benign (Sep 01, 2022)
6-36330225-G-A		not specified	Uncertain significance (Sep 01, 2021)
6-36330293-G-A		not specified	Likely benign (Aug 04, 2021)
6-36330498-A-G			Likely benign (Sep 01, 2022)
6-36330593-T-C		not specified	Uncertain significance (Nov 12, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BNIP5	protein_coding	protein_coding	ENST00000437635	11	21129

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.25e-20	0.00248	125619	0	129	125748	0.000513

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.981	422	369	1.14	0.0000206	4255
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000717	0.000717
Ashkenazi Jewish	0.000299	0.000298
East Asian	0.000767	0.000707
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000617	0.000607
Middle Eastern	0.000767	0.000707
South Asian	0.000686	0.000686
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.961
• rvis_EVS: -0.15
• rvis_percentile_EVS: 42.3

Haploinsufficiency Scores

• pHI: 0.0959
• hipred: N
• hipred_score: 0.123
• ghis: 0.383

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 4930539E08Rik