E2F5
E2F transcription factor 5, the group of E2F transcription factors
Basic information
Region (hg38): 8:85177154-85217158
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the E2F5 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 | 17 | 17 | ||||
| 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 | 0 | 0 |
Variants in E2F5
This is a list of pathogenic ClinVar variants found in the E2F5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-85177512-A-G | not specified | Uncertain significance (Oct 02, 2023) | ||
| 8-85177544-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
| 8-85177559-G-A | not specified | Uncertain significance (Nov 29, 2023) | ||
| 8-85177631-G-A | not specified | Uncertain significance (Mar 29, 2023) | ||
| 8-85177653-C-A | not specified | Uncertain significance (Apr 25, 2022) | ||
| 8-85202155-T-A | not specified | Uncertain significance (May 09, 2023) | ||
| 8-85203130-A-G | not specified | Uncertain significance (Sep 17, 2021) | ||
| 8-85203219-G-A | not specified | Uncertain significance (Jun 26, 2023) | ||
| 8-85206201-C-A | not specified | Uncertain significance (Feb 17, 2022) | ||
| 8-85206219-T-A | not specified | Uncertain significance (May 27, 2022) | ||
| 8-85207448-G-T | not specified | Uncertain significance (May 11, 2022) | ||
| 8-85209147-G-C | not specified | Uncertain significance (Jan 05, 2022) | ||
| 8-85209220-G-C | not specified | Uncertain significance (Dec 15, 2023) | ||
| 8-85209353-A-C | not specified | Uncertain significance (Jan 09, 2024) | ||
| 8-85209379-C-A | not specified | Uncertain significance (Oct 25, 2023) | ||
| 8-85212176-T-A | not specified | Uncertain significance (Jul 06, 2021) | ||
| 8-85213795-A-T | not specified | Uncertain significance (Feb 10, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| E2F5 | protein_coding | protein_coding | ENST00000416274 | 8 | 39928 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.935 | 0.0649 | 124646 | 0 | 3 | 124649 | 0.0000120 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.861 | 106 | 134 | 0.791 | 0.00000610 | 2229 |
| Missense in Polyphen | 20 | 32.059 | 0.62385 | 555 | ||
| Synonymous | -0.270 | 53 | 50.6 | 1.05 | 0.00000261 | 665 |
| Loss of Function | 3.10 | 1 | 13.1 | 0.0764 | 5.52e-7 | 198 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.0000997 | 0.0000993 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000177 | 0.0000177 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transcriptional activator that binds to E2F sites, these sites are present in the promoter of many genes whose products are involved in cell proliferation. May mediate growth factor- initiated signal transduction. It is likely involved in the early responses of resting cells to growth factor stimulation. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole biogenesis. {ECO:0000250|UniProtKB:Q6DE14}.;
- Pathway
- TGF-beta signaling pathway - Homo sapiens (human);Cell cycle - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Cell Cycle;Spinal Cord Injury;Preimplantation Embryo;TGF-beta Signaling Pathway;G1 to S cell cycle control;Signal Transduction;Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;G0 and Early G1;Cyclin D associated events in G1;G1 Phase;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Mitotic G1-G1/S phases;TGF_beta_Receptor;Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer;Cell Cycle;Signaling by TGF-beta Receptor Complex;Signaling by TGF-beta family members;Cell Cycle, Mitotic;E2F transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.179
Intolerance Scores
- loftool
- 0.421
- rvis_EVS
- 0.19
- rvis_percentile_EVS
- 66.57
Haploinsufficiency Scores
- pHI
- 0.821
- hipred
- Y
- hipred_score
- 0.770
- ghis
- 0.543
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.690
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- E2f5
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); craniofacial 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); reproductive system 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;animal organ morphogenesis;cell projection organization;positive regulation of transcription by RNA polymerase II;regulation of cell cycle
- Cellular component
- fibrillar center;nucleus;nucleoplasm;nucleolus;cytoplasm;RNA polymerase II transcription factor complex
- Molecular function
- DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;protein binding;transcription factor binding;sequence-specific DNA binding;protein dimerization activity