WFDC8

WAP four-disulfide core domain 8, the group of WAP four-disulfide core domain containing

Basic information

Region (hg38): 20:45551153-45579326

Previous symbols: [ "C20orf170" ]

Links

ENSG00000158901 ∙ NCBI:90199 ∙ ∙ HGNC:16163 ∙ Uniprot:Q8IUA0 ∙ 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 WFDC8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFDC8 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			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	0

Variants in WFDC8

This is a list of pathogenic ClinVar variants found in the WFDC8 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-45552030-C-T		not specified	Likely benign (Jan 19, 2022)
20-45552031-G-A		not specified	Uncertain significance (Aug 12, 2021)
20-45552040-C-G		not specified	Uncertain significance (May 31, 2023)
20-45552145-G-A		not specified	Uncertain significance (Jan 31, 2024)
20-45553150-G-A		not specified	Uncertain significance (Jun 11, 2021)
20-45553175-C-G		not specified	Uncertain significance (Nov 03, 2022)
20-45553207-T-C		not specified	Uncertain significance (Oct 05, 2022)
20-45555781-G-A		not specified	Uncertain significance (Mar 19, 2024)
20-45555808-A-C		not specified	Uncertain significance (Jan 23, 2023)
20-45555813-C-A		not specified	Uncertain significance (Nov 07, 2022)
20-45555817-C-T		not specified	Uncertain significance (Jul 19, 2022)
20-45555824-C-T		not specified	Uncertain significance (Nov 10, 2022)
20-45562217-T-C		not specified	Uncertain significance (Jul 12, 2022)
20-45579234-C-A		not specified	Uncertain significance (Dec 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WFDC8	protein_coding	protein_coding	ENST00000357199	6	28174

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.30e-8	0.204	125575	1	169	125745	0.000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.676	114	136	0.837	0.00000718	1607
Missense in Polyphen		46	49.105	0.93676		611
Synonymous	-0.256	49	46.8	1.05	0.00000236	410
Loss of Function	0.382	13	14.6	0.892	7.99e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00161	0.00161
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.000910	0.000897
Middle Eastern	0.000435	0.000435
South Asian	0.000229	0.000229
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0679

Intolerance Scores

• loftool: 0.872
• rvis_EVS: 0.73
• rvis_percentile_EVS: 86.08

Haploinsufficiency Scores

• pHI: 0.0642
• hipred: N
• hipred_score: 0.123
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0965

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wfdc8

Gene ontology

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