SPINK8

serine peptidase inhibitor Kazal type 8 (putative), the group of MicroRNA protein coding host genes|Serine peptidase inhibitors, Kazal type

Basic information

Region (hg38): 3:48306842-48333661

Links

ENSG00000229453 ∙ NCBI:646424 ∙ ∙ HGNC:33160 ∙ Uniprot:P0C7L1 ∙ 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 SPINK8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPINK8 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in SPINK8

This is a list of pathogenic ClinVar variants found in the SPINK8 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-48309930-T-C		not specified	Uncertain significance (Jan 16, 2024)
3-48309936-G-A		not specified	Uncertain significance (Jun 19, 2024)
3-48319537-C-A		not specified	Uncertain significance (Nov 17, 2023)
3-48319537-C-T		not specified	Uncertain significance (Feb 15, 2023)
3-48319563-C-T		not specified	Uncertain significance (Sep 25, 2024)
3-48328332-T-A		not specified	Uncertain significance (Jun 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SPINK8	protein_coding	protein_coding	ENST00000434006	5	21496

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000637	0.294	124628	0	14	124642	0.0000562

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0536	43	44.0	0.977	0.00000194	635
Missense in Polyphen		13	10.774	1.2066		153
Synonymous	-0.0283	15	14.9	1.01	7.30e-7	162
Loss of Function	-0.221	6	5.44	1.10	2.29e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000130	0.000129
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000354	0.0000354
Middle Eastern	0.0000556	0.0000556
South Asian	0.000229	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable serine protease inhibitor. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.52
• rvis_percentile_EVS: 80.46

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Spink8
• Phenotype: normal phenotype

Gene ontology

• Biological process: negative regulation of endopeptidase activity
• Cellular component: extracellular region
• Molecular function: serine-type endopeptidase inhibitor activity