WFDC9

WAP four-disulfide core domain 9, the group of WAP four-disulfide core domain containing

Basic information

Region (hg38): 20:45607939-45631284

Links

ENSG00000180205 ∙ NCBI:259240 ∙ ∙ HGNC:20380 ∙ Uniprot:Q8NEX5 ∙ 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 WFDC9 gene.

• not_specified (20 variants)
• Inborn_genetic_diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFDC9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000147198.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6	1		7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	6	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WFDC9	protein_coding	protein_coding	ENST00000326000	3	23330

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00977	0.616	125692	0	11	125703	0.0000438

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.350	41	47.8	0.858	0.00000228	586
Missense in Polyphen		13	12.741	1.0203		162
Synonymous	-0.0911	15	14.6	1.03	6.91e-7	151
Loss of Function	0.336	3	3.70	0.811	1.56e-7	45

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000888	0.0000888
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.00000894	0.00000880
Middle Eastern	0.000109	0.000109
South Asian	0.000134	0.000131
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.672
• rvis_EVS: 0.72
• rvis_percentile_EVS: 85.92

Haploinsufficiency Scores

• pHI: 0.0262
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wfdc9

Gene ontology

• Cellular component: extracellular region
• Molecular function: protein binding