BPIFA1

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

Basic information

Region (hg38): 20:33235995-33243311

Previous symbols: [ "PLUNC" ]

Links

ENSG00000198183NCBI:51297OMIM:607412HGNC:15749Uniprot:Q9NP55AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BPIFA1 gene.

  • not_specified (38 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BPIFA1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000130852.3. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
35
clinvar
4
clinvar
1
clinvar
40
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 35 4 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BPIFA1protein_codingprotein_codingENST00000354297 77315
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.20e-80.10612563001141257440.000453
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4391471331.110.000006481617
Missense in Polyphen2731.7480.85046431
Synonymous-0.5756458.41.100.00000291583
Loss of Function-0.08181211.71.036.92e-7127

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001350.00135
Ashkenazi Jewish0.001490.00149
East Asian0.0002180.000217
Finnish0.00004620.0000462
European (Non-Finnish)0.0004320.000431
Middle Eastern0.0002180.000217
South Asian0.00006560.0000653
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Plays a role in the innate immune responses of the upper airways. Reduces the surface tension in secretions from airway epithelia and inhibits the formation of biofilm by pathogenic Gram-negative bacteria, such as P.aeruginosa and K.pneumoniae. Binds bacterial lipopolysaccharide (LPS). Negatively regulates proteolytic cleavage of SCNN1G, an event that is required for activation of the epithelial sodium channel (ENaC), and thereby contributes to airway surface liquid homeostasis and proper clearance of mucus. Plays a role in the airway inflammatory response after exposure to irritants. May attract macrophages and neutrophils. May be associated with tumor progression. {ECO:0000269|PubMed:11425234, ECO:0000269|PubMed:23132494, ECO:0000269|PubMed:23499554, ECO:0000269|PubMed:24043776, ECO:0000269|PubMed:24124190}.;
Pathway
Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec
0.341

Intolerance Scores

loftool
rvis_EVS
-0.29
rvis_percentile_EVS
32.94

Haploinsufficiency Scores

pHI
0.0917
hipred
N
hipred_score
0.112
ghis
0.422

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Bpifa1
Phenotype
respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hearing/vestibular/ear phenotype; immune system phenotype;

Gene ontology

Biological process
immune response in nasopharyngeal-associated lymphoid tissue;antimicrobial humoral response;antibacterial humoral response;innate immune response;regulation of liquid surface tension;multicellular organismal water homeostasis;defense response to virus;antimicrobial humoral immune response mediated by antimicrobial peptide;negative regulation of single-species biofilm formation in or on host organism;regulation of sodium ion transmembrane transport
Cellular component
extracellular region;extracellular space
Molecular function
molecular_function;protein binding;lipid binding