EPPIN-WFDC6

EPPIN-WFDC6 readthrough

Basic information

Region (hg38): 20:45534196-45547662

Previous symbols: [ "SPINLW1-WFDC6" ]

Links

ENSG00000249139 ∙ NCBI:100526773 ∙ ∙ HGNC:38825 ∙ Uniprot:O95925, 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 EPPIN-WFDC6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPPIN-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 EPPIN-WFDC6

This is a list of pathogenic ClinVar variants found in the EPPIN-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
EPPIN-WFDC6	protein_coding	protein_coding	ENST00000504988	5	10441

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000740	0.763	125670	0	64	125734	0.000255

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0443	97	95.8	1.01	0.00000481	1196
Missense in Polyphen		33	26.552	1.2428		344
Synonymous	0.740	31	36.7	0.845	0.00000217	295
Loss of Function	1.10	8	12.1	0.660	7.11e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00131	0.00131
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000106
Middle Eastern	0.0000544	0.0000544
South Asian	0.000163	0.000163
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine protease inhibitor that plays an essential role in male reproduction and fertility. Modulates the hydrolysis of SEMG1 by KLK3/PSA (a serine protease), provides antimicrobial protection for spermatozoa in the ejaculate coagulum, and binds SEMG1 thereby inhibiting sperm motility. {ECO:0000269|PubMed:15229136, ECO:0000269|PubMed:17644992}.
• Pathway: Antimicrobial peptides;Innate Immune System;Immune System (Consensus)

Intolerance Scores

• rvis_EVS: 0.22
• rvis_percentile_EVS: 67.92

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.419

Essentials

• essential_gene_CRISPR: N