WFDC5

WAP four-disulfide core domain 5, the group of WAP four-disulfide core domain containing

Basic information

Region (hg38): 20:45109452-45115174

Links

ENSG00000175121 ∙ NCBI:149708 ∙ OMIM:605161 ∙ HGNC:20477 ∙ Uniprot:Q8TCV5 ∙ 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 WFDC5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFDC5 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in WFDC5

This is a list of pathogenic ClinVar variants found in the WFDC5 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-45110415-G-A		not specified	Uncertain significance (Jul 27, 2022)
20-45110421-C-G		not specified	Uncertain significance (Feb 22, 2024)
20-45110427-C-T		not specified	Uncertain significance (Oct 03, 2023)
20-45110433-C-T		not specified	Uncertain significance (Aug 07, 2024)
20-45110447-C-T		not specified	Uncertain significance (May 31, 2023)
20-45110508-G-A		not specified	Uncertain significance (Jun 29, 2023)
20-45110659-G-A		not specified	Uncertain significance (Mar 16, 2022)
20-45110769-G-A		not specified	Uncertain significance (Jan 03, 2024)
20-45110769-G-C		not specified	Likely benign (Jun 28, 2024)
20-45115014-C-T		not specified	Uncertain significance (Mar 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WFDC5	protein_coding	protein_coding	ENST00000372789	4	5721

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0339	0.835	125700	0	11	125711	0.0000438

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.335	67	75.2	0.891	0.00000444	788
Missense in Polyphen		39	40.813	0.95559		390
Synonymous	-0.253	34	32.2	1.06	0.00000202	241
Loss of Function	1.19	3	6.21	0.483	2.62e-7	75

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.00000883	0.00000879
Middle Eastern	0.000435	0.000435
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.723
• rvis_EVS: 0.35
• rvis_percentile_EVS: 73.97

Haploinsufficiency Scores

• pHI: 0.0845
• hipred: N
• hipred_score: 0.257
• ghis: 0.446

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.439

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wfdc5

Gene ontology

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