BPIFB1

BPI fold containing family B member 1, the group of BPI fold containing

Basic information

Region (hg38): 20:33273479-33309871

Previous symbols: [ "C20orf114" ]

Links

ENSG00000125999 ∙ NCBI:92747 ∙ ∙ HGNC:16108 ∙ Uniprot:Q8TDL5 ∙ 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 BPIFB1 gene.

• Inborn genetic diseases (16 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BPIFB1 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					1	1
missense			13	3	3	19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	3	4

Variants in BPIFB1

This is a list of pathogenic ClinVar variants found in the BPIFB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-33286085-G-A			Benign (Apr 26, 2018)
20-33286167-G-C		not specified	Uncertain significance (Nov 18, 2022)
20-33286179-A-G		not specified	Uncertain significance (Dec 17, 2023)
20-33288741-A-G			Benign (Jun 29, 2018)
20-33288768-A-G		not specified	Uncertain significance (Sep 23, 2023)
20-33288795-C-T		not specified	Uncertain significance (Dec 06, 2023)
20-33288806-G-T		not specified	Uncertain significance (Nov 09, 2021)
20-33288807-C-A		not specified	Uncertain significance (Nov 09, 2021)
20-33288812-C-T		not specified	Uncertain significance (Jul 11, 2023)
20-33288863-G-A		not specified	Likely benign (Jun 14, 2023)
20-33289964-C-T			Benign (Aug 15, 2017)
20-33290977-T-C		not specified	Uncertain significance (Aug 08, 2022)
20-33291009-A-G			Benign (Feb 26, 2018)
20-33297534-G-A		not specified	Uncertain significance (Nov 08, 2022)
20-33299935-A-T		not specified	Uncertain significance (Feb 07, 2023)
20-33301303-C-G		not specified	Uncertain significance (Sep 30, 2022)
20-33301306-C-T		not specified	Uncertain significance (Dec 09, 2023)
20-33301350-G-A		not specified	Uncertain significance (Oct 26, 2021)
20-33302371-G-T		not specified	Uncertain significance (Oct 10, 2023)
20-33302378-G-A		not specified	Likely benign (Jul 12, 2023)
20-33302916-G-C		not specified	Uncertain significance (Dec 03, 2021)
20-33303977-A-T		not specified	Uncertain significance (Jan 16, 2024)
20-33304018-A-C		not specified	Uncertain significance (Apr 19, 2023)
20-33304875-G-A		not specified	Uncertain significance (May 27, 2022)
20-33306008-G-A		not specified	Uncertain significance (Jul 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BPIFB1	protein_coding	protein_coding	ENST00000253354	15	36399

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.32e-8	0.895	125675	0	73	125748	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.630	245	274	0.893	0.0000148	3124
Missense in Polyphen		56	64.432	0.86913		787
Synonymous	0.541	112	120	0.937	0.00000693	1017
Loss of Function	1.73	16	25.4	0.630	0.00000125	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000716	0.000716
Ashkenazi Jewish	0.00	0.00
East Asian	0.000489	0.000489
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000317	0.000316
Middle Eastern	0.000489	0.000489
South Asian	0.000163	0.000163
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS. {ECO:0000269|PubMed:21900486}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.0906

Intolerance Scores

• rvis_EVS: 1.49
• rvis_percentile_EVS: 95.36

Haploinsufficiency Scores

• pHI: 0.0627
• hipred: N
• hipred_score: 0.173

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bpifb1
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); respiratory system phenotype

Gene ontology

• Biological process: innate immune response in mucosa;antimicrobial humoral response;negative regulation of toll-like receptor 4 signaling pathway
• Cellular component: extracellular region;extracellular exosome
• Molecular function: molecular_function;lipid binding