ETS1

ETS proto-oncogene 1, transcription factor, the group of ETS transcription factor family

Basic information

Region (hg38): 11:128458760-128587558

Previous symbols: [ "EWSR2" ]

Links

ENSG00000134954 ∙ NCBI:2113 ∙ OMIM:164720 ∙ HGNC:3488 ∙ Uniprot:P14921 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• 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 ClinVar and linked to the ETS1 gene.

• not provided (6 variants)
• Inborn genetic diseases (6 variants)
• not specified (1 variants)
• ETS1 related disorder (1 variants)

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	4
missense			7	1		8
nonsense		1				1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	1	7	1	5

Highest pathogenic variant AF is 0.00000657

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)
11-128480265-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 (Dec 31, 2019)
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	Conflicting classifications of pathogenicity (Mar 10, 2023)
11-128486082-C-T			Benign (Jul 31, 2018)
11-128489374-C-T			Likely benign (Dec 31, 2019)
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: gnomAD

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: dbNSFP

• 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