STK32B

serine/threonine kinase 32B, the group of AGC family kinases

Basic information

Region (hg38): 4:5051479-5500994

Links

ENSG00000152953 ∙ NCBI:55351 ∙ ∙ HGNC:14217 ∙ Uniprot:Q9NY57 ∙ 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 STK32B gene.

• Inborn genetic diseases (19 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STK32B 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			1	1	3	5
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding						0
Total	0	0	20	1	3

Variants in STK32B

This is a list of pathogenic ClinVar variants found in the STK32B region.

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

Position	Type	Phenotype	Significance	ClinVar
4-5051876-C-A		not specified	Uncertain significance (Jun 17, 2022)
4-5051893-C-A			Benign (Aug 17, 2018)
4-5139908-A-C		not specified	Uncertain significance (May 23, 2023)
4-5168317-C-A			Uncertain significance (Oct 01, 2018)
4-5168360-A-G		not specified	Uncertain significance (Apr 20, 2023)
4-5168398-C-T		not specified	Uncertain significance (Sep 13, 2023)
4-5331251-A-G		not specified	Uncertain significance (Dec 07, 2023)
4-5331259-G-A			Benign (Jan 25, 2018)
4-5331284-C-T		not specified	Uncertain significance (Dec 26, 2023)
4-5331287-T-C		not specified	Uncertain significance (Feb 28, 2024)
4-5416859-A-G		Long QT syndrome	Likely benign (-)
4-5416875-C-T		not specified	Uncertain significance (Nov 17, 2022)
4-5416878-C-T		not specified	Uncertain significance (Feb 26, 2024)
4-5446665-G-A			Benign (Jun 01, 2018)
4-5446665-G-T			Benign (Jan 25, 2018)
4-5446769-G-A		not specified	Uncertain significance (Aug 16, 2021)
4-5456828-G-A		not specified	Uncertain significance (Aug 17, 2021)
4-5456837-A-G		not specified	Uncertain significance (Oct 03, 2023)
4-5456855-A-G		not specified	Uncertain significance (Nov 10, 2022)
4-5456877-A-G		not specified	Uncertain significance (Jul 08, 2022)
4-5456889-C-T		not specified	Uncertain significance (Jul 17, 2023)
4-5460121-G-A		not specified	Uncertain significance (Aug 12, 2021)
4-5460130-G-A		not specified	Uncertain significance (Oct 13, 2023)
4-5460133-T-C		not specified	Uncertain significance (May 31, 2023)
4-5460175-A-G		not specified	Uncertain significance (Jan 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STK32B	protein_coding	protein_coding	ENST00000282908	12	449557

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.91e-8	0.846	125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.984	286	243	1.18	0.0000141	2755
Missense in Polyphen		108	102.38	1.0549		1173
Synonymous	-2.20	127	99.1	1.28	0.00000628	743
Loss of Function	1.57	15	23.1	0.648	0.00000115	267

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000117	0.000117
Ashkenazi Jewish	0.00	0.00
East Asian	0.000651	0.000598
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000133	0.000114
Middle Eastern	0.000651	0.000598
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.717
• rvis_EVS: -0.64
• rvis_percentile_EVS: 16.63

Haploinsufficiency Scores

• pHI: 0.564
• hipred: Y
• hipred_score: 0.548
• ghis: 0.499

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.360

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stk32b

Gene ontology

• Biological process: peptidyl-serine phosphorylation;intracellular signal transduction
• Molecular function: protein serine/threonine kinase activity;ATP binding;metal ion binding