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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ETV7 |
 Gene summary |
| Gene information | Gene symbol | ETV7 | Gene ID | 51513 |
| Gene name | ETS variant 7 | |
| Synonyms | TEL-2|TEL2|TELB | |
| Cytomap | 6p21.31 | |
| Type of gene | protein-coding | |
| Description | transcription factor ETV7ETS translocation variant 7ETS-related protein Tel2Ets transcription factor TEL-2bTEL2 oncogeneets variant gene 7 (TEL2 oncogene)tel-related Ets factor | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y603 | |
| Context | PubMed: ETV7 [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 |
| ETV7 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 11108721 |
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Exon skipping events across known transcript of Ensembl for ETV7 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 ETV7 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ETV7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459027 | 6 | 36336705:36336848:36339106:36339337:36341229:36341355 | 36339106:36339337 | ENSG00000010030.9 | ENST00000340181.4,ENST00000339796.5,ENST00000538992.1,ENST00000373738.1 |
| exon_skip_459029 | 6 | 36339106:36339337:36341229:36341355:36343647:36343812 | 36341229:36341355 | ENSG00000010030.9 | ENST00000340181.4,ENST00000339796.5 |
| exon_skip_459030 | 6 | 36341229:36341355:36343647:36343812:36353310:36353446 | 36343647:36343812 | ENSG00000010030.9 | ENST00000373737.4,ENST00000340181.4,ENST00000339796.5 |
| exon_skip_459032 | 6 | 36341229:36341355:36353310:36353446:36355312:36355493 | 36353310:36353446 | ENSG00000010030.9 | ENST00000373738.1 |
| exon_skip_459036 | 6 | 36343647:36343812:36353310:36353446:36355312:36355493 | 36353310:36353446 | ENSG00000010030.9 | ENST00000373737.4,ENST00000340181.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ETV7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_459027 | 6 | 36336705:36336848:36339106:36339337:36341229:36341355 | 36339106:36339337 | ENSG00000010030.9 | ENST00000339796.5,ENST00000340181.4,ENST00000373738.1,ENST00000538992.1 |
| exon_skip_459029 | 6 | 36339106:36339337:36341229:36341355:36343647:36343812 | 36341229:36341355 | ENSG00000010030.9 | ENST00000339796.5,ENST00000340181.4 |
| exon_skip_459030 | 6 | 36341229:36341355:36343647:36343812:36353310:36353446 | 36343647:36343812 | ENSG00000010030.9 | ENST00000339796.5,ENST00000340181.4,ENST00000373737.4 |
| exon_skip_459032 | 6 | 36341229:36341355:36353310:36353446:36355312:36355493 | 36353310:36353446 | ENSG00000010030.9 | ENST00000373738.1 |
| exon_skip_459036 | 6 | 36343647:36343812:36353310:36353446:36355312:36355493 | 36353310:36353446 | ENSG00000010030.9 | ENST00000340181.4,ENST00000373737.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ETV7 |
| 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 |
| ENST00000340181 | 36353310 | 36353446 | Frame-shift |
| ENST00000340181 | 36339106 | 36339337 | In-frame |
| ENST00000340181 | 36341229 | 36341355 | In-frame |
| ENST00000340181 | 36343647 | 36343812 | 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 |
| ENST00000340181 | 36353310 | 36353446 | Frame-shift |
| ENST00000340181 | 36339106 | 36339337 | In-frame |
| ENST00000340181 | 36341229 | 36341355 | In-frame |
| ENST00000340181 | 36343647 | 36343812 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ETV7 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000340181 | 1736 | 341 | 36343647 | 36343812 | 385 | 549 | 47 | 102 |
| ENST00000340181 | 1736 | 341 | 36341229 | 36341355 | 550 | 675 | 102 | 144 |
| ENST00000340181 | 1736 | 341 | 36339106 | 36339337 | 676 | 906 | 144 | 221 |
| 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 |
| ENST00000340181 | 1736 | 341 | 36343647 | 36343812 | 385 | 549 | 47 | 102 |
| ENST00000340181 | 1736 | 341 | 36341229 | 36341355 | 550 | 675 | 102 | 144 |
| ENST00000340181 | 1736 | 341 | 36339106 | 36339337 | 676 | 906 | 144 | 221 |
| 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 |
| 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 |
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SNVs in the skipped exons for ETV7 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| HNSC | TCGA-RS-A6TP-01 | exon_skip_459029 | 36341230 | 36341355 | 36341235 | 36341235 | Frame_Shift_Del | G | - | p.P88fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_459029 | 36341230 | 36341355 | 36341285 | 36341285 | Frame_Shift_Del | A | - | p.G72fs |
| SKCM | TCGA-D3-A3CE-06 | exon_skip_459029 | 36341230 | 36341355 | 36341294 | 36341294 | Frame_Shift_Del | C | - | p.G68fs |
| BLCA | TCGA-S5-A6DX-01 | exon_skip_459030 | 36343648 | 36343812 | 36343650 | 36343650 | Nonsense_Mutation | G | C | p.S102* |
| BRCA | TCGA-E9-A1R4-01 | exon_skip_459030 | 36343648 | 36343812 | 36343650 | 36343650 | Nonsense_Mutation | G | C | p.S102* |
| - 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 |
| LN235_CENTRAL_NERVOUS_SYSTEM | 36339107 | 36339337 | 36339142 | 36339142 | Missense_Mutation | G | A | p.A210V |
| OC316_OVARY | 36339107 | 36339337 | 36339257 | 36339257 | Missense_Mutation | C | T | p.G172S |
| OC314_OVARY | 36339107 | 36339337 | 36339257 | 36339257 | Missense_Mutation | C | T | p.G172S |
| TGBC11TKB_STOMACH | 36341230 | 36341355 | 36341301 | 36341301 | Missense_Mutation | A | G | p.V121A |
| EGI1_BILIARY_TRACT | 36343648 | 36343812 | 36343719 | 36343719 | Missense_Mutation | C | T | p.G79E |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 36343648 | 36343812 | 36343726 | 36343726 | Missense_Mutation | C | G | p.E77Q |
| SNUC2A_LARGE_INTESTINE | 36343648 | 36343812 | 36343758 | 36343758 | Missense_Mutation | G | A | p.A66V |
| SNUC2B_LARGE_INTESTINE | 36343648 | 36343812 | 36343758 | 36343758 | Missense_Mutation | G | A | p.A66V |
| SNUC4_LARGE_INTESTINE | 36353311 | 36353446 | 36353334 | 36353334 | Missense_Mutation | A | G | p.I40T |
| KURAMOCHI_OVARY | 36353311 | 36353446 | 36353383 | 36353383 | Missense_Mutation | C | T | p.V24M |
| SKRC20_KIDNEY | 36341230 | 36341355 | 36341355 | 36341355 | Splice_Site | C | T | p.G103D |
| OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 36353311 | 36353446 | 36353311 | 36353311 | Splice_Site | G | A | p.R48C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ETV7 |
| 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 ETV7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ETV7 |
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RelatedDrugs for ETV7 |
| 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 ETV7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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