|
||||||
|
 | |
| |
| |
| |
| 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 ETV1 |
 Gene summary |
| Gene information | Gene symbol | ETV1 | Gene ID | 2115 |
| Gene name | ETS variant 1 | |
| Synonyms | ER81 | |
| Cytomap | 7p21.2 | |
| Type of gene | protein-coding | |
| Description | ETS translocation variant 1ets variant gene 1ets-related protein 81 | |
| Modification date | 20180523 | |
| UniProtAcc | P50549 | |
| Context | PubMed: ETV1 [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 |
| ETV1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12750007 |
Top |
Exon skipping events across known transcript of Ensembl for ETV1 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. |
 |
Top |
Gene isoform structures and expression levels for ETV1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ETV1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_473818 | 7 | 13935482:13935712:13940362:13940464:13946054:13946123 | 13940362:13940464 | ENSG00000006468.9 | ENST00000405218.2,ENST00000443137.1,ENST00000403685.1,ENST00000399357.3,ENST00000405358.4,ENST00000405192.2,ENST00000420159.2,ENST00000430479.1,ENST00000242066.5,ENST00000403527.1,ENST00000343495.5 |
| exon_skip_473820 | 7 | 13940362:13940464:13946054:13946224:13949256:13949325 | 13946054:13946224 | ENSG00000006468.9 | ENST00000405218.2,ENST00000403685.1,ENST00000399357.3,ENST00000405358.4,ENST00000405192.2,ENST00000420159.2,ENST00000430479.1,ENST00000242066.5,ENST00000403527.1,ENST00000343495.5 |
| exon_skip_473822 | 7 | 13946054:13946224:13947417:13947481:13949256:13949325 | 13947417:13947481 | ENSG00000006468.9 | ENST00000443137.1 |
| exon_skip_473826 | 7 | 13949256:13949325:13950863:13950932:13971126:13971374 | 13950863:13950932 | ENSG00000006468.9 | ENST00000472931.2,ENST00000405218.2,ENST00000443137.1,ENST00000403685.1,ENST00000399357.3,ENST00000405358.4,ENST00000420159.2,ENST00000430479.1,ENST00000242066.5,ENST00000403527.1,ENST00000438956.1,ENST00000343495.5 |
| exon_skip_473827 | 7 | 13950906:13950932:13971126:13971374:13975332:13975508 | 13971126:13971374 | ENSG00000006468.9 | ENST00000472931.2,ENST00000405218.2,ENST00000443137.1,ENST00000403685.1,ENST00000405358.4,ENST00000420159.2,ENST00000430479.1,ENST00000242066.5,ENST00000403527.1,ENST00000476720.2,ENST00000438956.1,ENST00000343495.5 |
| exon_skip_473829 | 7 | 13971266:13971374:13975332:13975521:13978741:13978871 | 13975332:13975521 | ENSG00000006468.9 | ENST00000472931.2,ENST00000405218.2,ENST00000443137.1,ENST00000403685.1,ENST00000497115.1,ENST00000405358.4,ENST00000405192.2,ENST00000420159.2,ENST00000430479.1,ENST00000242066.5,ENST00000403527.1,ENST00000476720.2,ENST00000438956.1,ENST00000343495.5 |
| exon_skip_473830 | 7 | 13971266:13971374:13978741:13978871:14017051:14017100 | 13978741:13978871 | ENSG00000006468.9 | ENST00000399357.3,ENST00000443608.1 |
| exon_skip_473833 | 7 | 13978820:13978871:14017051:14017105:14025740:14025929 | 14017051:14017105 | ENSG00000006468.9 | ENST00000399357.3,ENST00000443608.1,ENST00000403527.1 |
| exon_skip_473834 | 7 | 13978820:13978871:14017051:14017105:14026262:14026310 | 14017051:14017105 | ENSG00000006468.9 | ENST00000421381.1,ENST00000405218.2,ENST00000476355.1,ENST00000443137.1,ENST00000431887.1,ENST00000497115.1,ENST00000405358.4,ENST00000405192.2,ENST00000430479.1 |
| exon_skip_473840 | 7 | 14028632:14028764:14028892:14029089:14029187:14029264 | 14028892:14029089 | ENSG00000006468.9 | ENST00000343495.5 |
| exon_skip_473841 | 7 | 14028632:14028764:14028892:14029089:14030177:14030315 | 14028892:14029089 | ENSG00000006468.9 | ENST00000443137.1 |
| exon_skip_473847 | 7 | 14028632:14028764:14030177:14030327:14030952:14031009 | 14030177:14030327 | ENSG00000006468.9 | ENST00000431887.1,ENST00000242066.5 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ETV1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_473818 | 7 | 13935482:13935712:13940362:13940464:13946054:13946123 | 13940362:13940464 | ENSG00000006468.9 | ENST00000430479.1,ENST00000242066.5,ENST00000343495.5,ENST00000420159.2,ENST00000399357.3,ENST00000405192.2,ENST00000405358.4,ENST00000403527.1,ENST00000405218.2,ENST00000443137.1,ENST00000403685.1 |
| exon_skip_473822 | 7 | 13946054:13946224:13947417:13947481:13949256:13949325 | 13947417:13947481 | ENSG00000006468.9 | ENST00000443137.1 |
| exon_skip_473826 | 7 | 13949256:13949325:13950863:13950932:13971126:13971374 | 13950863:13950932 | ENSG00000006468.9 | ENST00000430479.1,ENST00000242066.5,ENST00000343495.5,ENST00000420159.2,ENST00000399357.3,ENST00000405358.4,ENST00000403527.1,ENST00000405218.2,ENST00000443137.1,ENST00000403685.1,ENST00000472931.2,ENST00000438956.1 |
| exon_skip_473827 | 7 | 13950906:13950932:13971126:13971374:13975332:13975508 | 13971126:13971374 | ENSG00000006468.9 | ENST00000430479.1,ENST00000242066.5,ENST00000343495.5,ENST00000420159.2,ENST00000405358.4,ENST00000403527.1,ENST00000405218.2,ENST00000443137.1,ENST00000403685.1,ENST00000472931.2,ENST00000438956.1,ENST00000476720.2 |
| exon_skip_473829 | 7 | 13971266:13971374:13975332:13975521:13978741:13978871 | 13975332:13975521 | ENSG00000006468.9 | ENST00000430479.1,ENST00000242066.5,ENST00000343495.5,ENST00000420159.2,ENST00000405192.2,ENST00000405358.4,ENST00000403527.1,ENST00000405218.2,ENST00000443137.1,ENST00000403685.1,ENST00000472931.2,ENST00000438956.1,ENST00000476720.2,ENST00000497115.1 |
| exon_skip_473830 | 7 | 13971266:13971374:13978741:13978871:14017051:14017100 | 13978741:13978871 | ENSG00000006468.9 | ENST00000399357.3,ENST00000443608.1 |
| exon_skip_473833 | 7 | 13978820:13978871:14017051:14017105:14025740:14025929 | 14017051:14017105 | ENSG00000006468.9 | ENST00000399357.3,ENST00000403527.1,ENST00000443608.1 |
| exon_skip_473834 | 7 | 13978820:13978871:14017051:14017105:14026262:14026310 | 14017051:14017105 | ENSG00000006468.9 | ENST00000430479.1,ENST00000405192.2,ENST00000405358.4,ENST00000405218.2,ENST00000443137.1,ENST00000497115.1,ENST00000476355.1,ENST00000421381.1,ENST00000431887.1 |
| exon_skip_473840 | 7 | 14028632:14028764:14028892:14029089:14029187:14029264 | 14028892:14029089 | ENSG00000006468.9 | ENST00000343495.5 |
| exon_skip_473847 | 7 | 14028632:14028764:14030177:14030327:14030952:14031009 | 14030177:14030327 | ENSG00000006468.9 | ENST00000242066.5,ENST00000431887.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ETV1 |
| 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 |
| ENST00000405218 | 13946054 | 13946224 | Frame-shift |
| ENST00000430479 | 13946054 | 13946224 | Frame-shift |
| ENST00000405218 | 13971126 | 13971374 | Frame-shift |
| ENST00000430479 | 13971126 | 13971374 | Frame-shift |
| ENST00000405218 | 13940362 | 13940464 | In-frame |
| ENST00000430479 | 13940362 | 13940464 | In-frame |
| ENST00000405218 | 13950863 | 13950932 | In-frame |
| ENST00000430479 | 13950863 | 13950932 | In-frame |
| ENST00000405218 | 13975332 | 13975521 | In-frame |
| ENST00000430479 | 13975332 | 13975521 | In-frame |
| ENST00000405218 | 14017051 | 14017105 | In-frame |
| ENST00000430479 | 14017051 | 14017105 | 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 |
| ENST00000405218 | 13971126 | 13971374 | Frame-shift |
| ENST00000430479 | 13971126 | 13971374 | Frame-shift |
| ENST00000405218 | 13940362 | 13940464 | In-frame |
| ENST00000430479 | 13940362 | 13940464 | In-frame |
| ENST00000405218 | 13950863 | 13950932 | In-frame |
| ENST00000430479 | 13950863 | 13950932 | In-frame |
| ENST00000405218 | 13975332 | 13975521 | In-frame |
| ENST00000430479 | 13975332 | 13975521 | In-frame |
| ENST00000405218 | 14017051 | 14017105 | In-frame |
| ENST00000430479 | 14017051 | 14017105 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ETV1 |
| 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 |
| ENST00000405218 | 3408 | 477 | 14017051 | 14017105 | 654 | 707 | 60 | 78 |
| ENST00000430479 | 6757 | 477 | 14017051 | 14017105 | 850 | 903 | 60 | 78 |
| ENST00000405218 | 3408 | 477 | 13975332 | 13975521 | 838 | 1026 | 122 | 184 |
| ENST00000430479 | 6757 | 477 | 13975332 | 13975521 | 1034 | 1222 | 122 | 184 |
| ENST00000405218 | 3408 | 477 | 13950863 | 13950932 | 1275 | 1343 | 267 | 290 |
| ENST00000430479 | 6757 | 477 | 13950863 | 13950932 | 1471 | 1539 | 267 | 290 |
| ENST00000405218 | 3408 | 477 | 13940362 | 13940464 | 1583 | 1684 | 370 | 404 |
| ENST00000430479 | 6757 | 477 | 13940362 | 13940464 | 1779 | 1880 | 370 | 404 |
| 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 |
| ENST00000405218 | 3408 | 477 | 14017051 | 14017105 | 654 | 707 | 60 | 78 |
| ENST00000430479 | 6757 | 477 | 14017051 | 14017105 | 850 | 903 | 60 | 78 |
| ENST00000405218 | 3408 | 477 | 13975332 | 13975521 | 838 | 1026 | 122 | 184 |
| ENST00000430479 | 6757 | 477 | 13975332 | 13975521 | 1034 | 1222 | 122 | 184 |
| ENST00000405218 | 3408 | 477 | 13950863 | 13950932 | 1275 | 1343 | 267 | 290 |
| ENST00000430479 | 6757 | 477 | 13950863 | 13950932 | 1471 | 1539 | 267 | 290 |
| ENST00000405218 | 3408 | 477 | 13940362 | 13940464 | 1583 | 1684 | 370 | 404 |
| ENST00000430479 | 6757 | 477 | 13940362 | 13940464 | 1779 | 1880 | 370 | 404 |
| 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 |
Top |
SNVs in the skipped exons for ETV1 |
| - 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-A1EG-01 | exon_skip_473818 | 13940363 | 13940464 | 13940436 | 13940436 | Frame_Shift_Del | T | - | p.N362fs |
| ACC | TCGA-OR-A5JB-01 | exon_skip_473827 | 13971127 | 13971374 | 13971174 | 13971174 | Frame_Shift_Del | G | - | p.P212fs |
| ACC | TCGA-OR-A5JB-01 | exon_skip_473827 | 13971127 | 13971374 | 13971174 | 13971174 | Frame_Shift_Del | G | - | p.P235fs |
| ACC | TCGA-OR-A5JB-01 | exon_skip_473827 | 13971127 | 13971374 | 13971174 | 13971174 | Frame_Shift_Del | G | - | p.P252fs |
| ACC | TCGA-OR-A5JB-01 | exon_skip_473827 | 13971127 | 13971374 | 13971176 | 13971177 | Frame_Shift_Del | GG | - | p.211_212del |
| ACC | TCGA-OR-A5JB-01 | exon_skip_473827 | 13971127 | 13971374 | 13971176 | 13971177 | Frame_Shift_Del | GG | - | p.251_252del |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_473829 | 13975333 | 13975521 | 13975344 | 13975344 | Frame_Shift_Del | G | - | p.P163fs |
| COAD | TCGA-G4-6628-01 | exon_skip_473829 | 13975333 | 13975521 | 13975473 | 13975473 | Frame_Shift_Del | G | - | p.T99fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_473829 | 13975333 | 13975521 | 13975473 | 13975473 | Frame_Shift_Del | G | - | p.P120fs |
| STAD | TCGA-BR-4362-01 | exon_skip_473829 | 13975333 | 13975521 | 13975473 | 13975473 | Frame_Shift_Del | G | - | p.T139fs |
| STAD | TCGA-BR-8372-01 | exon_skip_473829 | 13975333 | 13975521 | 13975473 | 13975473 | Frame_Shift_Del | G | - | p.T139fs |
| UCEC | TCGA-D1-A0ZS-01 | exon_skip_473829 | 13975333 | 13975521 | 13975473 | 13975473 | Frame_Shift_Del | G | - | p.P138fs |
| UCEC | TCGA-DI-A0WH-01 | exon_skip_473829 | 13975333 | 13975521 | 13975473 | 13975473 | Frame_Shift_Del | G | - | p.P138fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_473834 exon_skip_473833 | 14017052 | 14017105 | 14017055 | 14017055 | Frame_Shift_Del | T | - | p.S78fs |
| HNSC | TCGA-D6-A6EM-01 | exon_skip_473834 exon_skip_473833 | 14017052 | 14017105 | 14017092 | 14017092 | Frame_Shift_Del | G | - | p.D65fs |
| KIRC | TCGA-AK-3458-01 | exon_skip_473818 | 13940363 | 13940464 | 13940460 | 13940461 | Frame_Shift_Ins | - | C | p.A372fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_473829 | 13975333 | 13975521 | 13975472 | 13975473 | Frame_Shift_Ins | - | G | p.T121fs |
| LUAD | TCGA-44-2665-01 | exon_skip_473829 | 13975333 | 13975521 | 13975472 | 13975473 | Frame_Shift_Ins | - | G | p.T121fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_473829 | 13975333 | 13975521 | 13975472 | 13975473 | Frame_Shift_Ins | - | G | p.T139fs |
| STAD | TCGA-CG-5721-01 | exon_skip_473829 | 13975333 | 13975521 | 13975472 | 13975473 | Frame_Shift_Ins | - | G | p.T139fs |
| UCEC | TCGA-B5-A0K7-01 | exon_skip_473829 | 13975333 | 13975521 | 13975472 | 13975473 | Frame_Shift_Ins | - | G | p.P138fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_473829 | 13975333 | 13975521 | 13975472 | 13975473 | Frame_Shift_Ins | - | G | p.P138fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_473829 | 13975333 | 13975521 | 13975473 | 13975474 | Frame_Shift_Ins | - | G | p.P138fs |
| STAD | TCGA-CG-5721-01 | exon_skip_473829 | 13975333 | 13975521 | 13975473 | 13975474 | Frame_Shift_Ins | - | G | p.P138fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_473820 | 13946055 | 13946224 | 13946090 | 13946090 | Nonsense_Mutation | G | A | p.R359* |
| COAD | TCGA-A6-5661-01 | exon_skip_473820 | 13946055 | 13946224 | 13946171 | 13946171 | Nonsense_Mutation | G | A | p.R309X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_473829 | 13975333 | 13975521 | 13975515 | 13975515 | Nonsense_Mutation | A | T | p.Y124* |
| HNSC | TCGA-CQ-6220-01 | exon_skip_473826 | 13950864 | 13950932 | 13950933 | 13950933 | Splice_Site | C | G | p.E268_splice |
| - 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 |
| LOVO_LARGE_INTESTINE | 13971127 | 13971374 | 13971174 | 13971174 | Frame_Shift_Del | G | - | p.P253fs |
| NCIH630_LARGE_INTESTINE | 13971127 | 13971374 | 13971174 | 13971174 | Frame_Shift_Del | G | - | p.P253fs |
| SNU175_LARGE_INTESTINE | 13975333 | 13975521 | 13975473 | 13975473 | Frame_Shift_Del | G | - | p.P138fs |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13940363 | 13940464 | 13940369 | 13940369 | Missense_Mutation | C | T | p.M402I |
| RERFLCAD2_LUNG | 13940363 | 13940464 | 13940449 | 13940449 | Missense_Mutation | C | A | p.G376C |
| SNU1040_LARGE_INTESTINE | 13946055 | 13946224 | 13946068 | 13946068 | Missense_Mutation | A | T | p.I366N |
| ESO26_OESOPHAGUS | 13946055 | 13946224 | 13946195 | 13946195 | Missense_Mutation | G | A | p.R324W |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 13950864 | 13950932 | 13950888 | 13950888 | Missense_Mutation | G | T | p.L283M |
| KYSE450_OESOPHAGUS | 13971127 | 13971374 | 13971133 | 13971133 | Missense_Mutation | C | G | p.D266H |
| LB373EBV_MATCHED_NORMAL_TISSUE | 13971127 | 13971374 | 13971156 | 13971156 | Missense_Mutation | T | A | p.Q258L |
| HEC265_ENDOMETRIUM | 13971127 | 13971374 | 13971171 | 13971171 | Missense_Mutation | G | A | p.P253L |
| DANG_PANCREAS | 13971127 | 13971374 | 13971174 | 13971174 | Missense_Mutation | G | A | p.P252L |
| HCT15_LARGE_INTESTINE | 13971127 | 13971374 | 13971198 | 13971198 | Missense_Mutation | C | T | p.S244N |
| NCIH650_LUNG | 13971127 | 13971374 | 13971202 | 13971202 | Missense_Mutation | C | A | p.G243C |
| PATU8902_PANCREAS | 13971127 | 13971374 | 13971211 | 13971211 | Missense_Mutation | T | C | p.T240A |
| MCC13_SKIN | 13971127 | 13971374 | 13971232 | 13971232 | Missense_Mutation | C | T | p.D233N |
| SW1088_CENTRAL_NERVOUS_SYSTEM | 13971127 | 13971374 | 13971240 | 13971240 | Missense_Mutation | T | A | p.E230V |
| DIFI_LARGE_INTESTINE | 13971127 | 13971374 | 13971293 | 13971293 | Missense_Mutation | T | G | p.Q212H |
| LNCAPCLONEFGC_PROSTATE | 13971127 | 13971374 | 13971309 | 13971309 | Missense_Mutation | C | T | p.G207E |
| HEC1B_ENDOMETRIUM | 13971127 | 13971374 | 13971367 | 13971367 | Missense_Mutation | G | A | p.R188C |
| GP5D_LARGE_INTESTINE | 13975333 | 13975521 | 13975361 | 13975361 | Missense_Mutation | G | A | p.P176S |
| JHUEM1_ENDOMETRIUM | 13975333 | 13975521 | 13975372 | 13975372 | Missense_Mutation | G | A | p.S172L |
| HCC1937_BREAST | 13975333 | 13975521 | 13975387 | 13975387 | Missense_Mutation | G | C | p.A167G |
| HCC1937_MATCHED_NORMAL_TISSUE | 13975333 | 13975521 | 13975387 | 13975387 | Missense_Mutation | G | C | p.A167G |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13975333 | 13975521 | 13975430 | 13975430 | Missense_Mutation | G | C | p.P153A |
| C33A_CERVIX | 13975333 | 13975521 | 13975448 | 13975448 | Missense_Mutation | G | A | p.P147S |
| LN382_CENTRAL_NERVOUS_SYSTEM | 13975333 | 13975521 | 13975454 | 13975454 | Missense_Mutation | C | G | p.V145L |
| C33A_CERVIX | 13975333 | 13975521 | 13975475 | 13975475 | Missense_Mutation | G | C | p.P138A |
| KM12_LARGE_INTESTINE | 13975333 | 13975521 | 13975475 | 13975475 | Missense_Mutation | G | A | p.P138S |
| NCIH2073_LUNG | 13975333 | 13975521 | 13975488 | 13975488 | Missense_Mutation | C | A | p.R133S |
| NCIH1993_LUNG | 13975333 | 13975521 | 13975488 | 13975488 | Missense_Mutation | C | A | p.R133S |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13975333 | 13975521 | 13975496 | 13975496 | Missense_Mutation | C | T | p.G131R |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13978742 | 13978871 | 13978759 | 13978759 | Missense_Mutation | C | G | p.K116N |
| SBC5_LUNG | 13978742 | 13978871 | 13978803 | 13978803 | Missense_Mutation | C | A | p.A102S |
| SNU1040_LARGE_INTESTINE | 13978742 | 13978871 | 13978803 | 13978803 | Missense_Mutation | C | T | p.A102T |
| NCIH378_LUNG | 13978742 | 13978871 | 13978863 | 13978863 | Missense_Mutation | G | A | p.H82Y |
| MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13978742 | 13978871 | 13978866 | 13978866 | Missense_Mutation | A | G | p.F81L |
| NCIH2126_LUNG | 14017052 | 14017105 | 14017052 | 14017052 | Splice_Site | A | T | p.L79M |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ETV1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ETV1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ETV1 |
Top |
RelatedDrugs for ETV1 |
| 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 |
Top |
RelatedDiseases for ETV1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ETV1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|