WFDC6

WAP four-disulfide core domain 6, the group of WAP four-disulfide core domain containing

Basic information

Region (hg38): 20:45534195-45539482

Previous symbols: [ "C20orf171" ]

Links

ENSG00000243543 ∙ NCBI:140870 ∙ ∙ HGNC:16164 ∙ Uniprot:Q9BQY6 ∙ 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 WFDC6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFDC6 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	1		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	8	1	0

Variants in WFDC6

This is a list of pathogenic ClinVar variants found in the WFDC6 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-45534486-T-G		not specified	Uncertain significance (Mar 24, 2023)
20-45534505-C-G		not specified	Uncertain significance (Feb 13, 2024)
20-45538007-C-T		not specified	Uncertain significance (Nov 04, 2022)
20-45538017-T-C		not specified	Uncertain significance (Jul 13, 2022)
20-45538029-C-A		not specified	Uncertain significance (Dec 01, 2022)
20-45538052-A-G		not specified	Uncertain significance (Jul 28, 2021)
20-45538065-C-T		not specified	Uncertain significance (Dec 27, 2022)
20-45538086-G-A		not specified	Uncertain significance (Sep 22, 2023)
20-45538091-G-A		not specified	Likely benign (Jun 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WFDC6	protein_coding	protein_coding	ENST00000372670	3	5300

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00110	0.398	125707	0	3	125710	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.165	45	48.2	0.933	0.00000257	558
Missense in Polyphen		8	10.405	0.76886		146
Synonymous	0.445	16	18.4	0.868	0.00000118	152
Loss of Function	-0.284	4	3.43	1.17	1.44e-7	46

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0901

Intolerance Scores

• loftool: 0.293
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.79

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.124

Gene Damage Prediction

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

Gene ontology

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