STK32A

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

Basic information

Region (hg38): 5:147234963-147387855

Links

ENSG00000169302 ∙ NCBI:202374 ∙ ∙ HGNC:28317 ∙ Uniprot:Q8WU08 ∙ 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 STK32A gene.

• not_specified (59 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STK32A gene is commonly pathogenic or not. These statistics are base on transcript: NM_001112724.2. 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						0
missense			60			60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	60	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STK32A	protein_coding	protein_coding	ENST00000397936	12	152890

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.98e-7	0.885	124632	0	39	124671	0.000156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.578	188	212	0.888	0.0000112	2654
Missense in Polyphen		89	97.334	0.91438		1202
Synonymous	-0.588	81	74.5	1.09	0.00000428	676
Loss of Function	1.64	14	22.3	0.627	0.00000105	275

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000457	0.000439
Ashkenazi Jewish	0.00	0.00
East Asian	0.000567	0.000556
Finnish	0.00	0.00
European (Non-Finnish)	0.000155	0.000150
Middle Eastern	0.000567	0.000556
South Asian	0.0000994	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0914

Intolerance Scores

• loftool: 0.876
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.36

Haploinsufficiency Scores

• pHI: 0.101
• hipred: N
• hipred_score: 0.251
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.457

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stk32a

Gene ontology

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