STK35

serine/threonine kinase 35

Basic information

Region (hg38): 20:2101826-2177038

Links

ENSG00000125834 ∙ NCBI:140901 ∙ OMIM:609370 ∙ HGNC:16254 ∙ Uniprot:Q8TDR2 ∙ 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 STK35 gene.

• Inborn genetic diseases (20 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STK35 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
missense			17	3		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	4	0

Variants in STK35

This is a list of pathogenic ClinVar variants found in the STK35 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-2101942-A-T		not specified	Uncertain significance (May 25, 2022)
20-2101982-G-A		not specified	Uncertain significance (Jan 31, 2022)
20-2102057-G-A		not specified	Uncertain significance (Aug 12, 2021)
20-2102061-C-T			Likely benign (Oct 01, 2023)
20-2102068-T-G		not specified	Uncertain significance (Nov 09, 2021)
20-2102110-G-C		not specified	Uncertain significance (May 27, 2022)
20-2102116-C-A		not specified	Uncertain significance (May 17, 2023)
20-2102783-C-T		not specified	Uncertain significance (Dec 15, 2023)
20-2102828-G-A		not specified	Uncertain significance (Sep 29, 2023)
20-2102829-G-C		not specified	Uncertain significance (Oct 03, 2022)
20-2102832-C-T		not specified	Uncertain significance (Apr 25, 2022)
20-2102835-G-C		not specified	Uncertain significance (Sep 07, 2022)
20-2102865-C-T		not specified	Uncertain significance (Apr 07, 2023)
20-2102882-G-A		not specified	Uncertain significance (May 17, 2023)
20-2102907-C-A		not specified	Uncertain significance (Jan 25, 2023)
20-2102915-C-T		not specified	Uncertain significance (Oct 21, 2021)
20-2102952-C-T		not specified	Uncertain significance (Apr 07, 2023)
20-2102957-A-G		not specified	Likely benign (Apr 07, 2023)
20-2102970-C-T		not specified	Uncertain significance (Sep 25, 2023)
20-2102985-G-A		not specified	Likely benign (Apr 07, 2023)
20-2103006-C-T		not specified	Uncertain significance (Apr 07, 2023)
20-2103027-T-A		not specified	Likely benign (Apr 07, 2023)
20-2103137-G-A		not specified	Uncertain significance (Sep 22, 2023)
20-2103140-C-G		not specified	Uncertain significance (Oct 13, 2023)
20-2116671-A-G		not specified	Uncertain significance (Apr 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STK35	protein_coding	protein_coding	ENST00000381482	3	75428

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.481	0.518	125738	0	3	125741	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.30	169	277	0.611	0.0000138	3374
Missense in Polyphen		16	75.865	0.2109		852
Synonymous	-0.848	128	116	1.10	0.00000593	1144
Loss of Function	2.81	3	14.6	0.206	7.04e-7	186

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000190	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000336	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Haploinsufficiency Scores

• pHI: 0.200
• hipred: Y
• hipred_score: 0.768
• ghis: 0.599

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.730

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stk35
• Phenotype: vision/eye phenotype; embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; cellular phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: protein phosphorylation;meiotic cell cycle
• Cellular component: nucleus;nucleolus;cytoplasm;nuclear body
• Molecular function: protein kinase activity;protein serine/threonine kinase activity;ATP binding