E2F8

E2F transcription factor 8, the group of E2F transcription factors

Basic information

Region (hg38): 11:19224062-19241620

Links

ENSG00000129173 ∙ NCBI:79733 ∙ OMIM:612047 ∙ HGNC:24727 ∙ Uniprot:A0AVK6 ∙ 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 E2F8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the E2F8 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	4	5
missense			45	4	3	52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	45	5	7

Variants in E2F8

This is a list of pathogenic ClinVar variants found in the E2F8 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-19224728-T-C			Benign (Jul 23, 2018)
11-19224788-C-T		not specified	Uncertain significance (May 08, 2023)
11-19225279-G-T		not specified	Uncertain significance (Nov 22, 2023)
11-19225332-G-A			Benign (May 08, 2018)
11-19225336-T-C		not specified	Likely benign (May 03, 2023)
11-19225344-C-G		not specified	Uncertain significance (Aug 22, 2023)
11-19225361-C-T		not specified	Uncertain significance (Dec 14, 2022)
11-19225402-T-C		not specified	Likely benign (Mar 14, 2023)
11-19225459-T-A		not specified	Uncertain significance (May 18, 2023)
11-19225487-C-T		not specified	Likely benign (Jun 18, 2024)
11-19225495-G-A		not specified	Uncertain significance (Oct 26, 2022)
11-19225514-C-T		not specified	Uncertain significance (Mar 29, 2022)
11-19225551-C-T			Benign (May 24, 2018)
11-19225552-G-A		not specified	Uncertain significance (Nov 13, 2023)
11-19225574-A-T		not specified	Uncertain significance (Feb 05, 2024)
11-19225738-T-C			Benign (May 08, 2018)
11-19225759-G-C		not specified	Uncertain significance (Jun 03, 2022)
11-19225770-A-G		not specified	Uncertain significance (Oct 03, 2022)
11-19225795-A-G		not specified	Uncertain significance (Jul 20, 2021)
11-19225830-G-A		not specified	Uncertain significance (Nov 09, 2023)
11-19225861-A-T		not specified	Uncertain significance (Apr 09, 2024)
11-19225862-G-A			Benign (May 08, 2018)
11-19229504-A-G		not specified	Uncertain significance (Apr 08, 2022)
11-19229578-C-T		not specified	Uncertain significance (Jul 13, 2022)
11-19229656-T-G		not specified	Uncertain significance (Jan 16, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
E2F8	protein_coding	protein_coding	ENST00000527884	12	17558

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.818	0.182	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.814	428	478	0.895	0.0000255	5650
Missense in Polyphen		138	174.33	0.7916		2003
Synonymous	-0.239	188	184	1.02	0.0000104	1755
Loss of Function	4.52	7	36.4	0.192	0.00000211	444

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000880	0.0000879
Middle Eastern	0.000109	0.000109
South Asian	0.0000982	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Atypical E2F transcription factor that participates in various processes such as angiogenesis and polyploidization of specialized cells. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1: component of a feedback loop in S phase by repressing the expression of E2F1, thereby preventing p53/TP53-dependent apoptosis. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene. {ECO:0000269|PubMed:15897886, ECO:0000269|PubMed:16179649, ECO:0000269|PubMed:18202719, ECO:0000269|PubMed:22903062}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest;TP53 Regulates Transcription of Cell Cycle Genes;Transcriptional Regulation by TP53 (Consensus)

Recessive Scores

• pRec: 0.0914

Intolerance Scores

• loftool: 0.341
• rvis_EVS: -0.77
• rvis_percentile_EVS: 13.1

Haploinsufficiency Scores

• pHI: 0.392
• hipred: Y
• hipred_score: 0.568
• ghis: 0.593

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.894

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: E2f8
• Phenotype: respiratory system phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); normal phenotype; cellular phenotype; growth/size/body region phenotype

Zebrafish Information Network

• Gene name: e2f8
• Affected structure: dorsal longitudinal anastomotic vessel
• Phenotype tag: abnormal
• Phenotype quality: hypoplastic

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;placenta development;sprouting angiogenesis;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;cell population proliferation;negative regulation of cytokinesis;positive regulation of DNA endoreduplication;cell cycle comprising mitosis without cytokinesis;positive regulation of transcription by RNA polymerase II;regulation of cell cycle;trophoblast giant cell differentiation;chorionic trophoblast cell differentiation;hepatocyte differentiation
• Cellular component: nucleus;nucleoplasm;nucleolus;cytosol;RNA polymerase II transcription factor complex
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;proximal promoter sequence-specific DNA binding;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;transcription corepressor activity;protein binding;transcription factor binding;protein homodimerization activity;sequence-specific DNA binding