WFDC1

WAP four-disulfide core domain 1, the group of WAP four-disulfide core domain containing

Basic information

Region (hg38): 16:84294846-84329844

Links

ENSG00000103175NCBI:58189OMIM:605322HGNC:15466Uniprot:Q9HC57AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the WFDC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFDC1 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
2
clinvar
2
missense
19
clinvar
2
clinvar
3
clinvar
24
nonsense
1
clinvar
1
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 19 5 3

Variants in WFDC1

This is a list of pathogenic ClinVar variants found in the WFDC1 region.

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

Position Type Phenotype Significance ClinVar
16-84294975-C-G not specified Uncertain significance (Oct 07, 2024)3469864
16-84294984-G-A Likely benign (Dec 14, 2018)718633
16-84294987-G-A not specified Uncertain significance (Oct 17, 2024)2351249
16-84295003-G-A not specified Uncertain significance (Jun 12, 2023)2559639
16-84295007-G-C not specified Uncertain significance (Mar 25, 2024)3333058
16-84295024-C-T not specified Uncertain significance (Jun 29, 2023)2608313
16-84295047-C-T not specified Uncertain significance (Aug 20, 2024)3469862
16-84295052-C-T Likely benign (Mar 29, 2018)747367
16-84295053-G-A not specified Uncertain significance (Jun 13, 2024)3333052
16-84295056-G-A not specified Likely benign (Apr 03, 2023)2569235
16-84295081-G-A not specified Uncertain significance (May 24, 2023)2551722
16-84295090-C-T not specified Uncertain significance (Nov 03, 2022)2322335
16-84295107-A-G not specified Uncertain significance (Aug 28, 2023)2598285
16-84312984-C-A Likely benign (Mar 01, 2018)736832
16-84312992-G-A not specified Uncertain significance (Oct 13, 2023)3190460
16-84313001-G-A not specified Uncertain significance (Aug 28, 2024)3469860
16-84313043-G-A not specified Uncertain significance (Dec 06, 2024)3469865
16-84313072-G-A not specified Uncertain significance (Dec 15, 2022)2335795
16-84313079-A-C not specified Uncertain significance (Jan 24, 2024)3190461
16-84313082-G-T not specified Uncertain significance (Sep 30, 2024)3469863
16-84313084-C-G not specified Uncertain significance (Mar 23, 2023)2521801
16-84313093-C-T not specified Uncertain significance (Mar 25, 2024)3333057
16-84313110-C-G not specified Uncertain significance (Mar 18, 2024)3333056
16-84313148-C-A not specified Uncertain significance (Sep 16, 2021)2380595
16-84318293-C-T not specified Uncertain significance (Jul 05, 2024)3469861

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
WFDC1protein_codingprotein_codingENST00000219454 635199
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.47e-110.025012559801501257480.000597
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.711551051.470.000006361373
Missense in Polyphen4227.4381.5307368
Synonymous-0.9225647.91.170.00000313463
Loss of Function-0.4721513.21.148.12e-7144

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004620.00463
Ashkenazi Jewish0.000.00
East Asian0.001410.00141
Finnish0.000.00
European (Non-Finnish)0.0002820.000281
Middle Eastern0.001410.00141
South Asian0.0002290.000229
Other0.0003260.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Has growth inhibitory activity. {ECO:0000250}.;

Recessive Scores

pRec
0.156

Intolerance Scores

loftool
0.815
rvis_EVS
1.75
rvis_percentile_EVS
96.67

Haploinsufficiency Scores

pHI
0.111
hipred
N
hipred_score
0.300
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.155

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Wfdc1
Phenotype
homeostasis/metabolism phenotype; cellular phenotype; immune system phenotype;

Gene ontology

Biological process
regulation of cell growth;negative regulation of endopeptidase activity;negative regulation of cell growth;response to estradiol;response to drug;negative regulation of epithelial cell proliferation;negative regulation of inflammatory response;negative regulation of wound healing
Cellular component
extracellular space
Molecular function
molecular_function;serine-type endopeptidase inhibitor activity