BPIFB6

BPI fold containing family B member 6, the group of BPI fold containing

Basic information

Region (hg38): 20:33031647-33044047

Previous symbols: [ "BPIL3" ]

Links

ENSG00000167104 ∙ NCBI:128859 ∙ OMIM:614110 ∙ HGNC:16504 ∙ Uniprot:Q8NFQ5 ∙ 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 BPIFB6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BPIFB6 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			22	6		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	0	22	6	0

Variants in BPIFB6

This is a list of pathogenic ClinVar variants found in the BPIFB6 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-33031697-G-A		not specified	Uncertain significance (Mar 14, 2023)
20-33031721-G-A		not specified	Uncertain significance (Sep 01, 2021)
20-33032995-G-A		not specified	Uncertain significance (Feb 03, 2022)
20-33033007-A-G		not specified	Uncertain significance (Feb 13, 2024)
20-33033037-G-T		not specified	Uncertain significance (Sep 20, 2023)
20-33034214-G-A		not specified	Uncertain significance (Aug 10, 2021)
20-33034247-A-G		not specified	Uncertain significance (Dec 20, 2023)
20-33034280-A-G		not specified	Uncertain significance (Nov 02, 2023)
20-33034757-C-T			Uncertain significance (Jul 01, 2022)
20-33034818-C-T		not specified	Uncertain significance (Jun 03, 2024)
20-33034828-G-A		not specified	Likely benign (Nov 17, 2022)
20-33035094-A-G		not specified	Likely benign (Jan 26, 2022)
20-33035105-G-T		not specified	Uncertain significance (Feb 22, 2023)
20-33036447-C-T		not specified	Uncertain significance (Oct 13, 2023)
20-33036448-C-T		not specified	Uncertain significance (Nov 06, 2023)
20-33036454-C-T		not specified	Uncertain significance (Mar 16, 2024)
20-33036459-G-A		not specified	Uncertain significance (Jun 06, 2023)
20-33036474-G-A		not specified	Likely benign (Sep 15, 2021)
20-33036495-G-A		not specified	Likely benign (Sep 16, 2021)
20-33036501-G-A		not specified	Likely benign (Apr 13, 2022)
20-33037610-G-A		not specified	Uncertain significance (Sep 22, 2022)
20-33037616-G-A		not specified	Likely benign (Oct 18, 2021)
20-33037629-C-A		not specified	Uncertain significance (Jun 18, 2021)
20-33037683-C-G		not specified	Uncertain significance (Feb 17, 2024)
20-33039362-C-T		not specified	Uncertain significance (Jun 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BPIFB6	protein_coding	protein_coding	ENST00000349552	15	12400

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.81e-13	0.0733	125246	6	496	125748	0.00200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.307	274	260	1.05	0.0000138	2952
Missense in Polyphen		76	70.492	1.0781		865
Synonymous	-0.100	109	108	1.01	0.00000602	921
Loss of Function	0.542	21	23.9	0.880	0.00000118	280

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0257	0.0256
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000939	0.0000924
European (Non-Finnish)	0.000265	0.000264
Middle Eastern	0.000109	0.000109
South Asian	0.000425	0.000392
Other	0.000979	0.000978

dbNSFP

Source: dbNSFP

• Pathway: Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.0887

Intolerance Scores

• rvis_EVS: 1.07
• rvis_percentile_EVS: 91.67

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.146

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: Bpifb6

Gene ontology

• Cellular component: extracellular region
• Molecular function: lipid binding