E2F5-DT

E2F5 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 8:85086590-85178806

Links

ENSG00000260493 ∙ NCBI:102723322 ∙ ∙ HGNC:55393 ∙ ∙ ∙ 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 E2F5-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the E2F5-DT 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						0
non coding						0
Total	0	0	0	0	0

Variants in E2F5-DT

This is a list of pathogenic ClinVar variants found in the E2F5-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
8-85107306-C-T		not specified	Uncertain significance (Aug 13, 2021)
8-85107309-C-A			Benign (Dec 11, 2023)
8-85107312-C-CGGT			Uncertain significance (Mar 18, 2022)
8-85107341-A-G			Uncertain significance (Aug 22, 2023)
8-85107355-C-T			Likely benign (Dec 28, 2023)
8-85107362-T-A		not specified	Uncertain significance (Jan 07, 2022)
8-85109592-T-C			Uncertain significance (Feb 14, 2022)
8-85109594-G-C		Joubert syndrome and related disorders	Pathogenic (Mar 29, 2024)
8-85109629-G-T		not specified	Uncertain significance (Dec 07, 2021)
8-85109674-G-T			Likely benign (Jan 15, 2024)
8-85109678-A-G			Uncertain significance (Oct 13, 2023)
8-85109680-A-G		not specified	Likely benign (May 18, 2023)
8-85109697-T-A			Benign (Jan 29, 2024)
8-85109735-G-A		not specified	Uncertain significance (Feb 17, 2022)
8-85109742-C-G		not specified	Uncertain significance (Feb 21, 2024)
8-85109746-C-G		not specified	Uncertain significance (May 26, 2024)
8-85109747-T-C		not specified	Uncertain significance (May 07, 2024)
8-85109759-G-A			Benign (Jan 24, 2024)
8-85109774-C-G		not specified	Uncertain significance (Mar 24, 2023)
8-85110101-CT-C			Benign (Jul 10, 2023)
8-85110105-T-G			Likely benign (Jun 13, 2022)
8-85112941-C-T		not specified	Uncertain significance (May 29, 2024)
8-85112947-A-G		not specified	Uncertain significance (Jul 13, 2021)
8-85112964-C-T			Uncertain significance (Feb 09, 2022)
8-85112982-C-T		not specified	Uncertain significance (Aug 09, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP