WFDC13

WAP four-disulfide core domain 13, the group of WAP four-disulfide core domain containing

Basic information

Region (hg38): 20:45702038-45708817

Previous symbols: [ "C20orf138" ]

Links

ENSG00000168634 ∙ ∙ ∙ HGNC:16131 ∙ Uniprot:Q8IUB5 ∙ 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 WFDC13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFDC13 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					1	1
missense			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	7	0	1

Variants in WFDC13

This is a list of pathogenic ClinVar variants found in the WFDC13 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-45702137-T-G		not specified	Uncertain significance (Apr 08, 2022)
20-45702202-C-T		not specified	Uncertain significance (Dec 21, 2023)
20-45702205-G-A		not specified	Uncertain significance (Dec 20, 2023)
20-45704450-T-A		not specified	Uncertain significance (Jul 27, 2022)
20-45704466-C-T			Benign (Mar 29, 2018)
20-45704560-G-A		not specified	Uncertain significance (Jan 02, 2024)
20-45704921-C-T		not specified	Uncertain significance (Mar 24, 2023)
20-45704966-C-T		not specified	Uncertain significance (Oct 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WFDC13	protein_coding	protein_coding	ENST00000305479	3	6802

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0171	0.730	125712	0	13	125725	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.268	44	49.3	0.893	0.00000241	596
Missense in Polyphen		9	10.852	0.82936		132
Synonymous	1.08	12	17.8	0.674	8.52e-7	177
Loss of Function	0.741	3	4.74	0.633	1.98e-7	65

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000418	0.000416
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative acid-stable proteinase inhibitor. {ECO:0000250}.

Recessive Scores

• pRec: 0.0441

Intolerance Scores

• loftool: 0.694
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.72

Haploinsufficiency Scores

• pHI: 0.0138
• hipred: N
• hipred_score: 0.123
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0911

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wfdc13

Gene ontology

• Biological process: negative regulation of endopeptidase activity
• Cellular component: extracellular region
• Molecular function: serine-type endopeptidase inhibitor activity