WFIKKN1

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1, the group of I-set domain containing|WAP four-disulfide core domain containing

Basic information

Region (hg38): 16:629239-634117

Previous symbols: [ "C16orf12" ]

Links

ENSG00000127578 ∙ NCBI:117166 ∙ OMIM:608021 ∙ HGNC:30912 ∙ Uniprot:Q96NZ8 ∙ 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 WFIKKN1 gene.

• not_specified (131 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WFIKKN1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000053284.3. 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				1		1
missense			129	2		131
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	129	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WFIKKN1	protein_coding	protein_coding	ENST00000319070	2	4878

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000770	0.756	124906	0	48	124954	0.000192

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.454	377	353	1.07	0.0000262	3452
Missense in Polyphen		130	134.64	0.96553		1412
Synonymous	-1.84	199	169	1.18	0.0000143	1151
Loss of Function	1.18	10	14.9	0.671	8.01e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000785	0.000784
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000545
Finnish	0.00	0.00
European (Non-Finnish)	0.000190	0.000160
Middle Eastern	0.0000557	0.0000545
South Asian	0.000172	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.126

Haploinsufficiency Scores

• pHI: 0.171
• hipred: N
• hipred_score: 0.197
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0890

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wfikkn1
• Phenotype: skeleton phenotype; digestive/alimentary phenotype; muscle phenotype; growth/size/body region phenotype; craniofacial phenotype

Gene ontology

• Biological process: skeletal system development;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 region
• Molecular function: serine-type endopeptidase inhibitor activity;protein binding;metalloendopeptidase inhibitor activity;receptor antagonist activity;transforming growth factor beta binding