WFIKKN2

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2, the group of I-set domain containing|WAP four-disulfide core domain containing

Basic information

Region (hg38): 17:50834649-50842353

Links

ENSG00000173714 ∙ NCBI:124857 ∙ OMIM:610895 ∙ HGNC:30916 ∙ Uniprot:Q8TEU8 ∙ 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 WFIKKN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFIKKN2 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			38	2	1	41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	2	1

Variants in WFIKKN2

This is a list of pathogenic ClinVar variants found in the WFIKKN2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-50835957-G-A		not specified	Likely benign (May 31, 2022)
17-50836016-G-A		not specified	Uncertain significance (Mar 31, 2024)
17-50836019-G-T		not specified	Uncertain significance (May 13, 2024)
17-50836025-C-T		not specified	Likely benign (Mar 12, 2024)
17-50836026-C-T		not specified	Uncertain significance (Dec 11, 2023)
17-50836029-G-A			Benign (Dec 13, 2018)
17-50836044-C-T		not specified	Uncertain significance (Apr 25, 2023)
17-50836049-A-G		not specified	Uncertain significance (Oct 26, 2022)
17-50836053-G-A		not specified	Uncertain significance (Nov 30, 2021)
17-50836118-A-C		not specified	Uncertain significance (Jan 23, 2024)
17-50836128-G-A		not specified	Uncertain significance (Dec 12, 2023)
17-50839679-G-A		not specified	Uncertain significance (Mar 04, 2024)
17-50839698-G-A		not specified	Uncertain significance (Feb 28, 2024)
17-50839711-G-T		not specified	Uncertain significance (Jun 24, 2022)
17-50839776-C-T		not specified	Uncertain significance (Oct 12, 2021)
17-50839884-C-T		not specified	Uncertain significance (May 28, 2024)
17-50839893-C-T		not specified	Uncertain significance (Aug 04, 2021)
17-50839908-T-G		not specified	Uncertain significance (Oct 17, 2023)
17-50839911-C-T		not specified	Uncertain significance (Sep 06, 2022)
17-50839945-G-T		not specified	Uncertain significance (Apr 18, 2023)
17-50839956-T-C		not specified	Uncertain significance (Sep 16, 2021)
17-50839976-C-G		not specified	Uncertain significance (Oct 10, 2023)
17-50839976-C-T		not specified	Uncertain significance (Aug 31, 2022)
17-50839985-G-A		not specified	Uncertain significance (Jun 07, 2024)
17-50840051-A-T		not specified	Uncertain significance (Apr 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WFIKKN2	protein_coding	protein_coding	ENST00000311378	2	7699

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00361	0.988	125727	0	20	125747	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.213	378	390	0.970	0.0000268	3772
Missense in Polyphen		151	170.63	0.88494		1762
Synonymous	-1.31	190	168	1.13	0.0000127	1159
Loss of Function	2.31	7	17.4	0.402	9.20e-7	185

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000903	0.0000879
Middle Eastern	0.000163	0.000163
South Asian	0.0000327	0.0000327
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.238
• rvis_EVS: -0.62
• rvis_percentile_EVS: 17.45

Haploinsufficiency Scores

• pHI: 0.510
• hipred: N
• hipred_score: 0.496
• ghis: 0.416

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.293

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wfikkn2
• Phenotype: muscle phenotype; craniofacial phenotype; growth/size/body region phenotype; digestive/alimentary phenotype; skeleton phenotype

Gene ontology

• Biological process: skeletal system development;transforming growth factor beta receptor signaling pathway;negative regulation of endopeptidase activity;negative regulation of transforming growth factor beta receptor signaling pathway;negative regulation of protein binding;negative regulation of DNA binding;muscle fiber development;roof of mouth development;extracellular negative regulation of signal transduction
• Cellular component: extracellular space
• Molecular function: serine-type endopeptidase inhibitor activity;protein binding;metalloendopeptidase inhibitor activity;receptor antagonist activity;transforming growth factor beta binding