BFAR

bifunctional apoptosis regulator, the group of Sterile alpha motif domain containing|Ring finger proteins

Basic information

Region (hg38): 16:14632931-14669236

Links

ENSG00000103429 ∙ NCBI:51283 ∙ OMIM:619516 ∙ HGNC:17613 ∙ Uniprot:Q9NZS9 ∙ 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 BFAR gene.

• not_specified (52 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BFAR gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016561.3. 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						0
missense			51	1	1	53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BFAR	protein_coding	protein_coding	ENST00000261658	7	36422

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.54e-8	0.839	125684	0	63	125747	0.000251

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0697	237	240	0.987	0.0000124	2949
Missense in Polyphen		79	83.11	0.95055		1061
Synonymous	0.262	94	97.3	0.966	0.00000558	841
Loss of Function	1.59	16	24.5	0.654	0.00000122	270

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000274	0.000274
Ashkenazi Jewish	0.00	0.00
East Asian	0.00167	0.00163
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.00167	0.00163
South Asian	0.000331	0.000327
Other	0.000496	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors. {ECO:0000269|PubMed:14502241}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.751
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.85

Haploinsufficiency Scores

• pHI: 0.368
• hipred: N
• hipred_score: 0.394
• ghis: 0.498

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.825

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bfar

Gene ontology

• Biological process: protein polyubiquitination;ubiquitin-dependent protein catabolic process;apoptotic process;negative regulation of apoptotic process;proteasome-mediated ubiquitin-dependent protein catabolic process;protein autoubiquitination;protein K63-linked ubiquitination;protein K48-linked ubiquitination;negative regulation of IRE1-mediated unfolded protein response
• Cellular component: endoplasmic reticulum;integral component of plasma membrane;membrane;integral component of endoplasmic reticulum membrane
• Molecular function: protein binding;protein binding, bridging;metal ion binding;ubiquitin protein ligase activity;caspase binding