TEN1-CDK3

TEN1-CDK3 readthrough (NMD candidate)

Basic information

Region (hg38): 17:75979231-76005999

Links

ENSG00000261408 ∙ NCBI:100529145 ∙ ∙ HGNC:44420 ∙ ∙ ∙ 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 TEN1-CDK3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEN1-CDK3 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1		1	2
non coding			7	1	2	10
Total	0	0	7	1	2

Variants in TEN1-CDK3

This is a list of pathogenic ClinVar variants found in the TEN1-CDK3 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-75979246-G-A		Acyl-CoA oxidase deficiency	Uncertain significance (Jun 14, 2016)
17-75979259-A-T		Acyl-CoA oxidase deficiency	Uncertain significance (Jun 14, 2016)
17-75979390-C-T		Acyl-CoA oxidase deficiency	Benign/Likely benign (Sep 11, 2018)
17-75979728-C-T			Benign (Jul 27, 2021)
17-75986292-C-T			Benign (Jan 19, 2018)
17-75991577-G-A			Benign (Mar 02, 2018)
17-76002046-G-C		not specified	Uncertain significance (Mar 31, 2024)
17-76002053-C-A		not specified	Uncertain significance (Nov 17, 2023)
17-76002111-C-G		not specified	Uncertain significance (Apr 17, 2024)
17-76002252-A-G		not specified	Uncertain significance (Nov 02, 2023)
17-76002254-C-G		not specified	Uncertain significance (Jul 25, 2023)
17-76002294-A-G		not specified	Uncertain significance (Mar 28, 2024)
17-76002303-T-C		not specified	Uncertain significance (Apr 17, 2024)
17-76002309-G-A		not specified	Uncertain significance (Oct 25, 2022)
17-76002392-G-A		not specified	Uncertain significance (Jan 03, 2024)
17-76002566-C-A		not specified	Uncertain significance (Aug 12, 2021)
17-76003246-C-T		not specified	Uncertain significance (Apr 09, 2024)
17-76005298-C-G		not specified	Uncertain significance (Feb 27, 2024)
17-76005410-G-A		not specified	Uncertain significance (Apr 17, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine/threonine-protein kinase that plays a critical role in the control of the eukaryotic cell cycle; involved in G0- G1 and G1-S cell cycle transitions. Interacts with CCNC/cyclin-C during interphase. Phosphorylates histone H1, ATF1, RB1 and CABLES1. ATF1 phosphorylation triggers ATF1 transactivation and transcriptional activities, and promotes cell proliferation and transformation. CDK3/cyclin-C mediated RB1 phosphorylation is required for G0-G1 transition. Promotes G1-S transition probably by contributing to the activation of E2F1, E2F2 and E2F3 in a RB1- independent manner. {ECO:0000269|PubMed:15084261, ECO:0000269|PubMed:18794154, ECO:0000269|PubMed:8846921}.