STK17B

serine/threonine kinase 17b, the group of Death associated protein kinases

Basic information

Region (hg38): 2:196133583-196176503

Links

ENSG00000081320 ∙ NCBI:9262 ∙ OMIM:604727 ∙ HGNC:11396 ∙ Uniprot:O94768 ∙ 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 STK17B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STK17B 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in STK17B

This is a list of pathogenic ClinVar variants found in the STK17B region.

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

Position	Type	Phenotype	Significance	ClinVar
2-196137497-C-T		not specified	Uncertain significance (Mar 01, 2024)
2-196137538-A-T		not specified	Uncertain significance (Apr 08, 2022)
2-196137550-T-A		not specified	Uncertain significance (Nov 10, 2023)
2-196137557-T-C		not specified	Uncertain significance (May 18, 2022)
2-196137574-T-C		not specified	Uncertain significance (Dec 20, 2023)
2-196137577-C-T		not specified	Uncertain significance (Jun 30, 2022)
2-196137598-T-C		not specified	Uncertain significance (Jun 13, 2024)
2-196137722-G-A		not specified	Uncertain significance (Apr 18, 2023)
2-196145985-T-C		not specified	Uncertain significance (Sep 17, 2021)
2-196146004-C-G		not specified	Uncertain significance (Jun 06, 2023)
2-196146016-C-A		not specified	Uncertain significance (Feb 27, 2023)
2-196156533-T-C		not specified	Uncertain significance (Jul 09, 2021)
2-196163280-G-T		not specified	Uncertain significance (Jun 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STK17B	protein_coding	protein_coding	ENST00000263955	7	42938

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0136	0.980	125732	0	7	125739	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.58	122	182	0.670	0.00000877	2437
Missense in Polyphen		38	67.971	0.55906		922
Synonymous	0.409	58	62.1	0.934	0.00000313	690
Loss of Function	2.41	6	16.6	0.362	9.07e-7	219

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000579	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.0000579	0.0000544
South Asian	0.0000332	0.0000327
Other	0.000169	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Phosphorylates myosin light chains (By similarity). Acts as a positive regulator of apoptosis. {ECO:0000250, ECO:0000269|PubMed:9786912}.

Recessive Scores

• pRec: 0.0991

Intolerance Scores

• loftool: 0.596
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.4

Haploinsufficiency Scores

• pHI: 0.275
• hipred: N
• hipred_score: 0.479
• ghis: 0.516

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stk17b
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: protein phosphorylation;apoptotic process;intracellular signal transduction;protein autophosphorylation;positive regulation of fibroblast apoptotic process
• Cellular component: nucleus;endoplasmic reticulum-Golgi intermediate compartment;plasma membrane;actin cytoskeleton
• Molecular function: protein kinase activity;protein serine/threonine kinase activity;ATP binding