TPTEP2-CSNK1E

TPTEP2-CSNK1E readthrough

Basic information

Region (hg38): 22:38291918-38398522

Links

ENSG00000283900 ∙ NCBI:102800317 ∙ ∙ HGNC:53829 ∙ ∙ ∙ 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 TPTEP2-CSNK1E gene.

• Inborn genetic diseases (7 variants)
• not provided (5 variants)
• 12 conditions (1 variants)
• Developmental and epileptic encephalopathy, 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TPTEP2-CSNK1E 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)	1				1	2
splice region						0
non coding					1	1
Total	1	0	10	0	3

Variants in TPTEP2-CSNK1E

This is a list of pathogenic ClinVar variants found in the TPTEP2-CSNK1E region.

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

Position	Type	Phenotype	Significance	ClinVar
22-38294141-G-A		not specified	Uncertain significance (Sep 20, 2023)
22-38294158-G-A		not specified	Uncertain significance (Feb 27, 2024)
22-38294176-G-A		not specified	Uncertain significance (Jul 13, 2021)
22-38294256-G-T			Benign (Jul 06, 2018)
22-38294347-G-A		not specified	Uncertain significance (Aug 17, 2022)
22-38294368-G-A		not specified	Uncertain significance (Nov 19, 2022)
22-38294393-T-C		not specified	Uncertain significance (Aug 14, 2023)
22-38294408-C-T		not specified	Uncertain significance (Jun 07, 2024)
22-38294443-C-T		not specified	Uncertain significance (Aug 19, 2021)
22-38294458-C-T		not specified	Uncertain significance (Jul 05, 2023)
22-38294506-T-C		not specified	Uncertain significance (Feb 09, 2023)
22-38298785-C-T		Developmental and epileptic encephalopathy, 1	Pathogenic (-)
22-38300757-G-A		12 conditions	Uncertain significance (Jun 20, 2023)
22-38300896-G-A			Benign (Dec 31, 2019)
22-38302851-G-A			Benign (Oct 09, 2018)
22-38302910-C-A			Uncertain significance (Mar 17, 2020)
22-38314121-G-A			Uncertain significance (Sep 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates DVL1 and DVL2. Central component of the circadian clock. In balance with PP1, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. Inhibits cytokine-induced granuloytic differentiation. {ECO:0000269|PubMed:12556519, ECO:0000269|PubMed:15070676, ECO:0000269|PubMed:15917222, ECO:0000269|PubMed:16790549, ECO:0000269|PubMed:23413191}.