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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ETV6 |
 Gene summary |
| Gene information | Gene symbol | ETV6 | Gene ID | 2120 |
| Gene name | ETS variant transcription factor 6 | |
| Synonyms | TEL|TEL/ABL|THC5 | |
| Cytomap | 12p13.2 | |
| Type of gene | protein-coding | |
| Description | transcription factor ETV6ETS translocation variant 6ETS variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene) | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ETV6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10514502 |
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Gene structures and expression levels for ETV6 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000139083
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ETV6 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_130136 | chr12 | 11853427:11853561:11869424:11869969:11884445:11884587 | 11869424:11869969 |
| exon_skip_219709 | chr12 | 11884445:11884587:11885926:11886026:11890941:11895402 | 11885926:11886026 |
| exon_skip_40743 | chr12 | 11839140:11839304:11853427:11853561:11869424:11869969 | 11853427:11853561 |
| exon_skip_62928 | chr12 | 11752501:11752579:11825644:11825713:11826402:11826556 | 11825644:11825713 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ETV6 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000396373 | 11885926 | 11886026 | Frame-shift |
| ENST00000396373 | 11853427 | 11853561 | In-frame |
| ENST00000396373 | 11869424 | 11869969 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000396373 | 11853427 | 11853561 | In-frame |
| ENST00000396373 | 11869424 | 11869969 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ETV6 |
p-ENSG00000139083_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000396373 | 6006 | 452 | 11853427 | 11853561 | 604 | 737 | 110 | 154 |
| ENST00000396373 | 6006 | 452 | 11869424 | 11869969 | 739 | 1283 | 155 | 336 |
| Loci of skipped exons in MSBB 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 |
| Loci of skipped exons in Mayo 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 |
| ENST00000396373 | 6006 | 452 | 11853427 | 11853561 | 604 | 737 | 110 | 154 |
| ENST00000396373 | 6006 | 452 | 11869424 | 11869969 | 739 | 1283 | 155 | 336 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| P41212 | 110 | 154 | 1 | 452 | Chain | ID=PRO_0000204121;Note=Transcription factor ETV6 |
| P41212 | 110 | 154 | 40 | 124 | Domain | Note=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762 |
| P41212 | 110 | 154 | 110 | 122 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JI7 |
| P41212 | 155 | 336 | 1 | 452 | Chain | ID=PRO_0000204121;Note=Transcription factor ETV6 |
| P41212 | 155 | 336 | 288 | 288 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 |
| P41212 | 155 | 336 | 302 | 302 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P41212 | 155 | 336 | 213 | 213 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P41212 | 155 | 336 | 238 | 238 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97360 |
| P41212 | 155 | 336 | 257 | 257 | Modified residue | Note=Phosphoserine%3B by MAPK14;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12435397;Dbxref=PMID:12435397 |
| P41212 | 155 | 336 | 302 | 302 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P41212 | 155 | 336 | 323 | 323 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97360 |
| P41212 | 155 | 336 | 213 | 213 | Mutagenesis | Note=No effect. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12435397;Dbxref=PMID:12435397 |
| P41212 | 155 | 336 | 238 | 238 | Mutagenesis | Note=No effect. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12435397;Dbxref=PMID:12435397 |
| P41212 | 155 | 336 | 257 | 257 | Mutagenesis | Note=No phosphorylation by MAPK14. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12435397;Dbxref=PMID:12435397 |
| P41212 | 155 | 336 | 214 | 214 | Natural variant | ID=VAR_073322;Note=In THC5%3B abrogates DNA binding%3B alters subcellular location%3B decreases transcriptional repression in a dominant-negative fashion. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25581430;Dbxref=dbSNP:rs724159947,PMID:25 |
| P41212 | 155 | 336 | 336 | 337 | Site | Note=Breakpoint for translocation to form ETV6-AML1 in ALL |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 Mayo. |
| 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 |
| P41212 | 110 | 154 | 1 | 452 | Chain | ID=PRO_0000204121;Note=Transcription factor ETV6 |
| P41212 | 110 | 154 | 40 | 124 | Domain | Note=PNT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00762 |
| P41212 | 110 | 154 | 110 | 122 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JI7 |
| P41212 | 155 | 336 | 1 | 452 | Chain | ID=PRO_0000204121;Note=Transcription factor ETV6 |
| P41212 | 155 | 336 | 288 | 288 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25755297,ECO:0000244|PubMed:28112733;Dbxref=PMID:25755297,PMID:28112733 |
| P41212 | 155 | 336 | 302 | 302 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P41212 | 155 | 336 | 213 | 213 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P41212 | 155 | 336 | 238 | 238 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97360 |
| P41212 | 155 | 336 | 257 | 257 | Modified residue | Note=Phosphoserine%3B by MAPK14;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12435397;Dbxref=PMID:12435397 |
| P41212 | 155 | 336 | 302 | 302 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P41212 | 155 | 336 | 323 | 323 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P97360 |
| P41212 | 155 | 336 | 213 | 213 | Mutagenesis | Note=No effect. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12435397;Dbxref=PMID:12435397 |
| P41212 | 155 | 336 | 238 | 238 | Mutagenesis | Note=No effect. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12435397;Dbxref=PMID:12435397 |
| P41212 | 155 | 336 | 257 | 257 | Mutagenesis | Note=No phosphorylation by MAPK14. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12435397;Dbxref=PMID:12435397 |
| P41212 | 155 | 336 | 214 | 214 | Natural variant | ID=VAR_073322;Note=In THC5%3B abrogates DNA binding%3B alters subcellular location%3B decreases transcriptional repression in a dominant-negative fashion. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25581430;Dbxref=dbSNP:rs724159947,PMID:25 |
| P41212 | 155 | 336 | 336 | 337 | Site | Note=Breakpoint for translocation to form ETV6-AML1 in ALL |
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3'-UTR located exon skipping events that lost miRNA binding sites in ETV6 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ETV6 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for ETV6 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ETV6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ETV6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ETV6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ETV6 |
| 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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