WFDC12

WAP four-disulfide core domain 12, the group of WAP four-disulfide core domain containing

Basic information

Region (hg38): 20:45123425-45124465

Previous symbols: [ "C20orf122" ]

Links

ENSG00000168703 ∙ NCBI:128488 ∙ OMIM:609872 ∙ HGNC:16115 ∙ Uniprot:Q8WWY7 ∙ 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 WFDC12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFDC12 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in WFDC12

This is a list of pathogenic ClinVar variants found in the WFDC12 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-45123851-T-C		not specified	Uncertain significance (Apr 06, 2022)
20-45123913-G-A		not specified	Uncertain significance (Mar 07, 2023)
20-45124111-T-G		not specified	Uncertain significance (Jun 07, 2024)
20-45124128-G-C		not specified	Uncertain significance (Jun 29, 2023)
20-45124250-C-T		not specified	Uncertain significance (Mar 06, 2023)
20-45124370-C-A		not specified	Uncertain significance (Mar 28, 2024)
20-45124380-C-A		not specified	Uncertain significance (Oct 29, 2021)
20-45124417-C-A		not specified	Uncertain significance (May 31, 2023)
20-45124443-C-A		not specified	Uncertain significance (May 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WFDC12	protein_coding	protein_coding	ENST00000372785	3	1041

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0445	0.685	125688	0	7	125695	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.166	65	61.3	1.06	0.00000304	718
Missense in Polyphen		14	14.85	0.94275		174
Synonymous	0.277	22	23.7	0.928	0.00000127	216
Loss of Function	0.563	2	3.06	0.653	1.28e-7	40

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.00000886	0.00000880
Middle Eastern	0.000326	0.000326
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Antibacterial protein. Putative acid-stable proteinase inhibitor.

Recessive Scores

• pRec: 0.0703

Intolerance Scores

• loftool: 0.610
• rvis_EVS: 0.35
• rvis_percentile_EVS: 73.97

Haploinsufficiency Scores

• pHI: 0.0653
• 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: 0.0612

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Wfdc12

Gene ontology

• Biological process: negative regulation of endopeptidase activity;defense response to bacterium
• Cellular component: extracellular region
• Molecular function: serine-type endopeptidase inhibitor activity