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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for ETS2 |
Gene summary |
Gene information | Gene symbol | ETS2 | Gene ID | 2114 |
Gene name | ETS proto-oncogene 2, transcription factor | |
Synonyms | ETS2IT1 | |
Cytomap | 21q22.2 | |
Type of gene | protein-coding | |
Description | protein C-ets-2oncogene ETS-2v-ets avian erythroblastosis virus E2 oncogene homolog 2v-ets avian erythroblastosis virus E26 oncogene homolog 2v-ets erythroblastosis virus E26 oncogene homolog 2 | |
Modification date | 20180523 | |
UniProtAcc | P15036 | |
Context | PubMed: ETS2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
ETS2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12637547 |
ETS2 | GO:0045893 | positive regulation of transcription, DNA-templated | 11909962 |
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Exon skipping events across known transcript of Ensembl for ETS2 from UCSC genome browser |
Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for ETS2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ETS2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_359846 | 21 | 40177894:40178044:40178374:40178732:40181958:40182030 | 40178374:40178732 | ENSG00000157557.7 | ENST00000432278.1 |
exon_skip_359850 | 21 | 40177894:40178044:40181958:40182030:40184926:40185038 | 40181958:40182030 | ENSG00000157557.7 | ENST00000360214.3,ENST00000360938.3 |
exon_skip_359852 | 21 | 40181958:40182030:40184926:40185038:40186196:40186316 | 40184926:40185038 | ENSG00000157557.7 | ENST00000432278.1,ENST00000360214.3,ENST00000360938.3,ENST00000456966.1 |
exon_skip_359855 | 21 | 40186704:40186905:40188931:40189015:40190348:40190570 | 40188931:40189015 | ENSG00000157557.7 | ENST00000360214.3,ENST00000360938.3,ENST00000456966.1 |
exon_skip_359856 | 21 | 40188931:40189015:40190348:40190570:40191426:40191690 | 40190348:40190570 | ENSG00000157557.7 | ENST00000360214.3,ENST00000360938.3 |
exon_skip_359859 | 21 | 40191426:40191690:40193509:40193628:40194597:40195472 | 40193509:40193628 | ENSG00000157557.7 | ENST00000360214.3,ENST00000360938.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ETS2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_359846 | 21 | 40177894:40178044:40178374:40178732:40181958:40182030 | 40178374:40178732 | ENSG00000157557.7 | ENST00000432278.1 |
exon_skip_359850 | 21 | 40177894:40178044:40181958:40182030:40184926:40185038 | 40181958:40182030 | ENSG00000157557.7 | ENST00000360214.3,ENST00000360938.3 |
exon_skip_359852 | 21 | 40181958:40182030:40184926:40185038:40186196:40186316 | 40184926:40185038 | ENSG00000157557.7 | ENST00000360214.3,ENST00000360938.3,ENST00000432278.1,ENST00000456966.1 |
exon_skip_359855 | 21 | 40186704:40186905:40188931:40189015:40190348:40190570 | 40188931:40189015 | ENSG00000157557.7 | ENST00000360214.3,ENST00000360938.3,ENST00000456966.1 |
exon_skip_359856 | 21 | 40188931:40189015:40190348:40190570:40191426:40191690 | 40190348:40190570 | ENSG00000157557.7 | ENST00000360214.3,ENST00000360938.3 |
exon_skip_359859 | 21 | 40191426:40191690:40193509:40193628:40194597:40195472 | 40193509:40193628 | ENSG00000157557.7 | ENST00000360214.3,ENST00000360938.3 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ETS2 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000360214 | 40184926 | 40185038 | Frame-shift |
ENST00000360938 | 40184926 | 40185038 | Frame-shift |
ENST00000360214 | 40193509 | 40193628 | Frame-shift |
ENST00000360938 | 40193509 | 40193628 | Frame-shift |
ENST00000360214 | 40181958 | 40182030 | In-frame |
ENST00000360938 | 40181958 | 40182030 | In-frame |
ENST00000360214 | 40188931 | 40189015 | In-frame |
ENST00000360938 | 40188931 | 40189015 | In-frame |
ENST00000360214 | 40190348 | 40190570 | In-frame |
ENST00000360938 | 40190348 | 40190570 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000360214 | 40184926 | 40185038 | Frame-shift |
ENST00000360938 | 40184926 | 40185038 | Frame-shift |
ENST00000360214 | 40193509 | 40193628 | Frame-shift |
ENST00000360938 | 40193509 | 40193628 | Frame-shift |
ENST00000360214 | 40181958 | 40182030 | In-frame |
ENST00000360938 | 40181958 | 40182030 | In-frame |
ENST00000360214 | 40188931 | 40189015 | In-frame |
ENST00000360938 | 40188931 | 40189015 | In-frame |
ENST00000360214 | 40190348 | 40190570 | In-frame |
ENST00000360938 | 40190348 | 40190570 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ETS2 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000360214 | 3953 | 469 | 40181958 | 40182030 | 461 | 532 | 0 | 24 |
ENST00000360938 | 3783 | 469 | 40181958 | 40182030 | 291 | 362 | 0 | 24 |
ENST00000360214 | 3953 | 469 | 40188931 | 40189015 | 966 | 1049 | 168 | 196 |
ENST00000360938 | 3783 | 469 | 40188931 | 40189015 | 796 | 879 | 168 | 196 |
ENST00000360214 | 3953 | 469 | 40190348 | 40190570 | 1050 | 1271 | 196 | 270 |
ENST00000360938 | 3783 | 469 | 40190348 | 40190570 | 880 | 1101 | 196 | 270 |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000360214 | 3953 | 469 | 40181958 | 40182030 | 461 | 532 | 0 | 24 |
ENST00000360938 | 3783 | 469 | 40181958 | 40182030 | 291 | 362 | 0 | 24 |
ENST00000360214 | 3953 | 469 | 40188931 | 40189015 | 966 | 1049 | 168 | 196 |
ENST00000360938 | 3783 | 469 | 40188931 | 40189015 | 796 | 879 | 168 | 196 |
ENST00000360214 | 3953 | 469 | 40190348 | 40190570 | 1050 | 1271 | 196 | 270 |
ENST00000360938 | 3783 | 469 | 40190348 | 40190570 | 880 | 1101 | 196 | 270 |
Lost protein functional features of individual exon skipping events in TCGA. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
P15036 | 0 | 24 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 0 | 24 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 168 | 196 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 168 | 196 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 168 | 196 | 85 | 170 | Domain | Note=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762 |
P15036 | 168 | 196 | 85 | 170 | Domain | Note=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762 |
P15036 | 168 | 196 | 155 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MHV |
P15036 | 168 | 196 | 155 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MHV |
P15036 | 196 | 270 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 196 | 270 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 196 | 270 | 220 | 220 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572 |
P15036 | 196 | 270 | 220 | 220 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572 |
P15036 | 196 | 270 | 225 | 225 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572 |
P15036 | 196 | 270 | 225 | 225 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572 |
Lost protein functional features of individual exon skipping events in GTEx. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
P15036 | 0 | 24 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 0 | 24 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 168 | 196 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 168 | 196 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 168 | 196 | 85 | 170 | Domain | Note=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762 |
P15036 | 168 | 196 | 85 | 170 | Domain | Note=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762 |
P15036 | 168 | 196 | 155 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MHV |
P15036 | 168 | 196 | 155 | 169 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4MHV |
P15036 | 196 | 270 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 196 | 270 | 1 | 469 | Chain | ID=PRO_0000204077;Note=Protein C-ets-2 |
P15036 | 196 | 270 | 220 | 220 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572 |
P15036 | 196 | 270 | 220 | 220 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572 |
P15036 | 196 | 270 | 225 | 225 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572 |
P15036 | 196 | 270 | 225 | 225 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24218572;Dbxref=PMID:24218572 |
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SNVs in the skipped exons for ETS2 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LIHC | TCGA-DD-A39Y-01 | exon_skip_359850 | 40181959 | 40182030 | 40181996 | 40181996 | Frame_Shift_Del | C | - | p.A13fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_359850 | 40181959 | 40182030 | 40181996 | 40181996 | Frame_Shift_Del | C | - | p.A13fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_359852 | 40184927 | 40185038 | 40184970 | 40184970 | Frame_Shift_Del | T | - | p.V39fs |
HNSC | TCGA-CQ-7071-01 | exon_skip_359856 | 40190349 | 40190570 | 40190567 | 40190568 | Frame_Shift_Del | TC | - | p.S270fs |
UCEC | TCGA-AP-A05D-01 | exon_skip_359859 | 40193510 | 40193628 | 40193586 | 40193592 | Frame_Shift_Del | GACTGGA | - | p.G386fs |
UCEC | TCGA-AP-A05D-01 | exon_skip_359859 | 40193510 | 40193628 | 40193586 | 40193592 | Frame_Shift_Del | GACTGGA | - | p.W524fs |
UCEC | TCGA-B5-A11E-01 | exon_skip_359852 | 40184927 | 40185038 | 40185002 | 40185002 | Nonsense_Mutation | C | T | p.Q50* |
UCEC | TCGA-BS-A0UV-01 | exon_skip_359852 | 40184927 | 40185038 | 40185005 | 40185005 | Nonsense_Mutation | G | T | p.E51* |
ACC | TCGA-OR-A5J4-01 | exon_skip_359855 | 40188932 | 40189015 | 40188949 | 40188949 | Nonsense_Mutation | G | T | p.E175* |
ACC | TCGA-OR-A5J4-01 | exon_skip_359855 | 40188932 | 40189015 | 40188949 | 40188949 | Nonsense_Mutation | G | T | p.E315X |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
GMEL_SKIN | 40190349 | 40190570 | 40190557 | 40190559 | In_Frame_Del | CAC | - | p.T267del |
KYSE30_OESOPHAGUS | 40188932 | 40189015 | 40188946 | 40188946 | Missense_Mutation | A | T | p.T174S |
NCIH1944_LUNG | 40188932 | 40189015 | 40188982 | 40188982 | Missense_Mutation | T | C | p.S186P |
SH10TC_STOMACH | 40190349 | 40190570 | 40190412 | 40190412 | Missense_Mutation | T | G | p.L218R |
NEC8_TESTIS | 40190349 | 40190570 | 40190412 | 40190412 | Missense_Mutation | T | G | p.L218R |
SW837_LARGE_INTESTINE | 40190349 | 40190570 | 40190468 | 40190468 | Missense_Mutation | C | A | p.Q237K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ETS2 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ETS2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ETS2 |
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RelatedDrugs for ETS2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ETS2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
ETS2 | C0027746 | Nerve Degeneration | 1 | CTD_human |
ETS2 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
ETS2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
ETS2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |