BPIFC

BPI fold containing family C, the group of BPI fold containing

Basic information

Region (hg38): 22:32413844-32464484

Previous symbols: [ "BPIL2" ]

Links

ENSG00000184459 ∙ NCBI:254240 ∙ OMIM:614109 ∙ HGNC:16503 ∙ Uniprot:Q8NFQ6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• trichilemmal cyst (Limited), mode of inheritance: AD

ClinVar

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

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BPIFC 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in BPIFC

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

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

Position	Type	Phenotype	Significance	ClinVar
22-32414349-C-T		not specified	Uncertain significance (Sep 01, 2021)
22-32432447-C-T		not specified	Uncertain significance (Sep 14, 2023)
22-32432479-A-G		not specified	Uncertain significance (Oct 30, 2023)
22-32433730-C-T		not specified	Uncertain significance (May 03, 2023)
22-32433753-T-C		not specified	Uncertain significance (May 31, 2023)
22-32435843-G-T		not specified	Uncertain significance (Oct 29, 2021)
22-32435877-C-T		not specified	Uncertain significance (Jan 09, 2024)
22-32442700-G-A		not specified	Uncertain significance (Nov 15, 2021)
22-32442716-C-A		not specified	Uncertain significance (Mar 27, 2023)
22-32445713-G-GA			Benign (Dec 29, 2023)
22-32445713-G-GAA			Benign (Jan 08, 2024)
22-32445713-G-GAAA			Benign (Jan 08, 2024)
22-32445863-C-T		not specified	Uncertain significance (Oct 31, 2023)
22-32447240-T-C		not specified	Uncertain significance (May 30, 2023)
22-32447340-A-G		not specified	Likely benign (Sep 23, 2023)
22-32453453-G-A		not specified	Uncertain significance (Apr 25, 2022)
22-32457265-T-C		not specified	Uncertain significance (Oct 30, 2023)
22-32457266-A-G		not specified	Uncertain significance (Dec 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BPIFC	protein_coding	protein_coding	ENST00000397452	15	50638

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.59e-7	0.961	125410	0	337	125747	0.00134

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.524	247	271	0.910	0.0000139	3313
Missense in Polyphen		85	98.086	0.86659		1228
Synonymous	0.522	100	107	0.936	0.00000621	982
Loss of Function	1.99	15	25.9	0.578	0.00000128	310

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00195	0.00194
Ashkenazi Jewish	0.00	0.00
East Asian	0.0120	0.0120
Finnish	0.00	0.00
European (Non-Finnish)	0.000186	0.000185
Middle Eastern	0.0120	0.0120
South Asian	0.00170	0.00170
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0988

Intolerance Scores

• rvis_EVS: 0.89
• rvis_percentile_EVS: 89.24

Haploinsufficiency Scores

• pHI: 0.150
• hipred: N
• hipred_score: 0.173
• ghis: 0.457

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Bpifc

Gene ontology

• Cellular component: extracellular space
• Molecular function: lipopolysaccharide binding;phospholipid binding