BPIFB4

BPI fold containing family B member 4, the group of BPI fold containing

Basic information

Region (hg38): 20:33079643-33111751

Previous symbols: [ "C20orf186" ]

Links

ENSG00000186191 ∙ NCBI:149954 ∙ OMIM:615718 ∙ HGNC:16179 ∙ Uniprot:P59827 ∙ 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 BPIFB4 gene.

• not_specified (93 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BPIFB4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000182519.3. 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				2		2
missense			86	6		92
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	86	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BPIFB4	protein_coding	protein_coding	ENST00000375483	16	32108

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.70e-21	0.00268	125564	0	184	125748	0.000732

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.724	410	371	1.11	0.0000217	3896
Missense in Polyphen		81	83.269	0.97275		913
Synonymous	-0.960	179	163	1.10	0.0000106	1362
Loss of Function	0.214	32	33.3	0.960	0.00000220	329

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00219	0.00219
Ashkenazi Jewish	0.00	0.00
East Asian	0.00142	0.00141
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000751	0.000747
Middle Eastern	0.00142	0.00141
South Asian	0.000753	0.000752
Other	0.000825	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity). {ECO:0000250}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.0774

Intolerance Scores

• rvis_EVS: 0.94
• rvis_percentile_EVS: 89.89

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.208

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	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Bpifb4

Gene ontology

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