ETS2
Basic information
Region (hg38): 21:38805183-38824955
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (52 variants)
- not_provided (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ETS2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005239.6. Only rare variants are included in the table.
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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 2 | |||||
missense | 51 | 53 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 51 | 2 | 2 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ETS2 | protein_coding | protein_coding | ENST00000360214 | 9 | 19649 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.999 | 0.00112 | 125736 | 0 | 6 | 125742 | 0.0000239 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.28 | 167 | 273 | 0.612 | 0.0000165 | 3120 |
Missense in Polyphen | 39 | 97.45 | 0.4002 | 1142 | ||
Synonymous | 0.600 | 107 | 115 | 0.929 | 0.00000803 | 861 |
Loss of Function | 4.36 | 1 | 24.1 | 0.0415 | 0.00000103 | 272 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000578 | 0.0000578 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000271 | 0.0000264 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000331 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription. {ECO:0000269|PubMed:11909962}.;
- Pathway
- HTLV-I infection - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Myometrial Relaxation and Contraction Pathways;Oncogene Induced Senescence;Ras Signaling;mets affect on macrophage differentiation;keratinocyte differentiation;Oncogene Induced Senescence;Cellular Senescence;Cellular responses to stress;FGF;Cellular responses to external stimuli;IL2;C-MYB transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.555
Intolerance Scores
- loftool
- 0.0776
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 50.22
Haploinsufficiency Scores
- pHI
- 0.728
- hipred
- Y
- hipred_score
- 0.775
- ghis
- 0.476
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.956
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ets2
- 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; neoplasm; embryo 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); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;skeletal system development;ectodermal cell fate commitment;regulation of transcription by RNA polymerase II;mesoderm development;cell differentiation;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;primitive streak formation
- Cellular component
- nucleus;nucleoplasm;cytosol;plasma membrane
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;protein binding;protein domain specific binding;glucocorticoid receptor binding