BPIFB6

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

Basic information

Region (hg38): 20:33031648-33044047

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.

• not_specified (62 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_000174897.2. 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						0
missense			54	8		62
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	8	0

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