ETS1
ETS proto-oncogene 1, transcription factor, the group of ETS transcription factor family
Basic information
Region (hg38): 11:128458761-128587558
Previous symbols: [ "EWSR2" ]
Links
Phenotypes
GenCC
Source:
- congenital heart disease (Moderate), mode of inheritance: AD
- Tourette syndrome (No Known Disease Relationship), mode of inheritance: Unknown
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 ETS1 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 | 4 | |||||
| missense | 9 | |||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 1 | 8 | 1 | 5 |
Variants in ETS1
This is a list of pathogenic ClinVar variants found in the ETS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 11-128460625-T-C | Benign (Oct 16, 2019) | |||
| 11-128462396-C-T | not specified | Uncertain significance (Feb 16, 2023) | ||
| 11-128462515-C-T | not specified | Uncertain significance (Mar 25, 2024) | ||
| 11-128480265-TCCTTG-AA | 11q partial monosomy syndrome | Pathogenic (Aug 11, 2017) | ||
| 11-128480301-G-A | not specified | Uncertain significance (Jan 26, 2022) | ||
| 11-128480393-G-A | Benign (Aug 01, 2024) | |||
| 11-128480443-C-T | not specified | Uncertain significance (Mar 20, 2024) | ||
| 11-128484825-C-A | not specified | Uncertain significance (Apr 08, 2024) | ||
| 11-128484826-G-A | not specified | Uncertain significance (Mar 16, 2022) | ||
| 11-128484862-C-T | not specified | Uncertain significance (Dec 31, 2023) | ||
| 11-128484877-T-C | not specified | Uncertain significance (Aug 02, 2022) | ||
| 11-128484933-G-A | not specified | Uncertain significance (Dec 20, 2023) | ||
| 11-128485020-G-A | not specified | Uncertain significance (May 17, 2023) | ||
| 11-128485035-G-A | not specified | Uncertain significance (Jun 29, 2023) | ||
| 11-128485068-T-C | not specified • ETS1-related disorder | Uncertain significance (Jun 11, 2015) | ||
| 11-128486082-C-T | Benign (Jul 31, 2018) | |||
| 11-128489374-C-T | Likely benign (Dec 31, 2019) | |||
| 11-128489393-C-T | not specified | Uncertain significance (Mar 26, 2024) | ||
| 11-128556402-G-A | ETS1-related disorder | Likely pathogenic (Jan 03, 2022) | ||
| 11-128556402-G-T | Benign (May 18, 2018) | |||
| 11-128573095-G-A | Benign (Dec 31, 2019) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ETS1 | protein_coding | protein_coding | ENST00000392668 | 9 | 128798 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.782 | 0.218 | 125739 | 0 | 6 | 125745 | 0.0000239 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.52 | 165 | 284 | 0.580 | 0.0000161 | 3212 |
| Missense in Polyphen | 47 | 125.67 | 0.374 | 1444 | ||
| Synonymous | 0.0561 | 105 | 106 | 0.993 | 0.00000614 | 888 |
| Loss of Function | 3.92 | 5 | 27.0 | 0.185 | 0.00000140 | 295 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000289 | 0.0000289 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000178 | 0.0000176 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000677 | 0.0000327 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion. {ECO:0000269|PubMed:10698492, ECO:0000269|PubMed:11909962, ECO:0000269|PubMed:15247905, ECO:0000269|PubMed:15592518}.;
- Pathway
- Renal cell carcinoma - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;EGF-Core;Neural Crest Differentiation;B Cell Receptor Signaling Pathway;Apoptosis-related network due to altered Notch3 in ovarian cancer;TGF-beta Signaling Pathway;VEGFA-VEGFR2 Signaling Pathway;MET in type 1 papillary renal cell carcinoma;Ras Signaling;mets affect on macrophage differentiation;keratinocyte differentiation;Oncogene Induced Senescence;Cellular Senescence;Cellular responses to stress;HIF-2-alpha transcription factor network;FGF;Cellular responses to external stimuli;TGF_beta_Receptor;BCR signaling pathway;IL2;C-MYB transcription factor network;Angiopoietin receptor Tie2-mediated signaling;IL4;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Signaling events mediated by focal adhesion kinase;AP-1 transcription factor network;HIF-1-alpha transcription factor network;IL4-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.726
Intolerance Scores
- loftool
- 0.0840
- rvis_EVS
- -0.2
- rvis_percentile_EVS
- 38.82
Haploinsufficiency Scores
- pHI
- 0.944
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.498
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ets1
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region 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); 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); pigmentation phenotype; endocrine/exocrine gland phenotype; immune system 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); hematopoietic system phenotype;
Gene ontology
- Biological process
- response to hypoxia;regulation of transcription by RNA polymerase II;immune response;female pregnancy;positive regulation of cell population proliferation;negative regulation of cell population proliferation;response to mechanical stimulus;positive regulation of endothelial cell migration;positive regulation of gene expression;regulation of extracellular matrix disassembly;hypothalamus development;pituitary gland development;cell differentiation;PML body organization;response to estradiol;response to laminar fluid shear stress;positive regulation of blood vessel endothelial cell migration;estrous cycle;positive regulation of erythrocyte differentiation;regulation of angiogenesis;positive regulation of angiogenesis;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;cell motility;negative regulation of inflammatory response;positive regulation of inflammatory response;positive regulation of cellular component movement;angiogenesis involved in wound healing;pri-miRNA transcription by RNA polymerase II;cellular response to hydrogen peroxide;response to interleukin-1;positive regulation of leukocyte adhesion to vascular endothelial cell
- Cellular component
- nucleus;nucleoplasm;transcription factor complex;cytoplasm
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;protein binding;transcription factor binding;histone acetyltransferase binding;identical protein binding