BMF

Bcl2 modifying factor, the group of BCL2 homology region 3 (BH3) only

Basic information

Region (hg38): 15:40087890-40108892

Links

ENSG00000104081 ∙ NCBI:90427 ∙ OMIM:606266 ∙ HGNC:24132 ∙ Uniprot:Q96LC9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 42.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
ENST00000354670.9	ENSP00000346697.4	3	yes	-
ENST00000397573.5	ENSP00000380703.1	3	-	-
ENST00000431415.3	ENSP00000396511.3	3	-	-
ENST00000557870.1	ENSP00000454142.1	1	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• not_specified (30 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BMF gene is commonly pathogenic or not. These statistics are base on transcript: NM_001003940.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	2		3
missense			29			29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	31	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BMF	protein_coding	protein_coding	ENST00000354670	3	21003

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.541	87	102	0.850	0.00000527	1193
Missense in Polyphen		32	43.197	0.74079		493
Synonymous	1.65	27	40.4	0.669	0.00000201	371
Loss of Function	1.56	5	10.4	0.479	7.70e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000242	0.000242
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000336	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in apoptosis. Isoform 1 seems to be the main initiator.
• Pathway: MicroRNAs in cancer - Homo sapiens (human);Androgen receptor signaling pathway;Apoptosis Modulation and Signaling;Photodynamic therapy-induced AP-1 survival signaling.;Activation of BMF and translocation to mitochondria;Activation of BH3-only proteins;Intrinsic Pathway for Apoptosis;TCR;Apoptosis;Programmed Cell Death;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members (Consensus)

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.262
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.764

Gene Damage Prediction

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

Gene ontology

• Biological process: protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;negative regulation of autophagy;positive regulation of protein homooligomerization;cellular response to UV;positive regulation of apoptotic process;anoikis;positive regulation of release of cytochrome c from mitochondria;positive regulation of intrinsic apoptotic signaling pathway
• Cellular component: acrosomal vesicle;mitochondrial outer membrane;cytosol;plasma membrane;myosin complex
• Molecular function: protein binding