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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 TLE4 |
Gene summary |
| Gene information | Gene symbol | TLE4 | Gene ID | 7091 |
| Gene name | transducin like enhancer of split 4 | |
| Synonyms | BCE-1|BCE1|E(spI)|ESG|ESG4|GRG4|Grg-4 | |
| Cytomap | 9q21.31 | |
| Type of gene | protein-coding | |
| Description | transducin-like enhancer protein 4B lymphocyte gene 1enhancer of split groucho 4groucho-related protein 4transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)transducin-like enhancer of split 4, homolog of Drosophila E(sp1) | |
| Modification date | 20180523 | |
| UniProtAcc | Q04727 | |
| Context | PubMed: TLE4 [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 |
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Exon skipping events across known transcript of Ensembl for TLE4 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 TLE4 |
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 TLE4 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_496668 | 9 | 82189787:82189851:82191047:82191092:82227570:82227633 | 82191047:82191092 | ENSG00000106829.14 | ENST00000376534.4,ENST00000455913.1,ENST00000265284.6,ENST00000425506.1,ENST00000376537.4,ENST00000428713.1,ENST00000376552.2,ENST00000376520.4,ENST00000376544.3,ENST00000462803.1,ENST00000435650.1,ENST00000466428.1,ENST00000485159.1 |
| exon_skip_496669 | 9 | 82191047:82191092:82216329:82216424:82227570:82227633 | 82216329:82216424 | ENSG00000106829.14 | ENST00000470872.1 |
| exon_skip_496670 | 9 | 82191047:82191092:82227570:82227633:82242288:82242363 | 82227570:82227633 | ENSG00000106829.14 | ENST00000376534.4,ENST00000455913.1,ENST00000425506.1,ENST00000376537.4,ENST00000428713.1,ENST00000376552.2,ENST00000376520.4,ENST00000376544.3,ENST00000462803.1,ENST00000435650.1,ENST00000466428.1,ENST00000485159.1 |
| exon_skip_496671 | 9 | 82191047:82191092:82227570:82227633:82267504:82267544 | 82227570:82227633 | ENSG00000106829.14 | ENST00000474519.1 |
| exon_skip_496672 | 9 | 82191047:82191092:82227570:82227633:82267507:82267709 | 82227570:82227633 | ENSG00000106829.14 | ENST00000265284.6 |
| exon_skip_496675 | 9 | 82227570:82227633:82242288:82242363:82264734:82264773 | 82242288:82242363 | ENSG00000106829.14 | ENST00000435650.1 |
| exon_skip_496676 | 9 | 82227570:82227633:82242288:82242363:82267504:82267544 | 82242288:82242363 | ENSG00000106829.14 | ENST00000376534.4,ENST00000414465.1,ENST00000496853.1 |
| exon_skip_496677 | 9 | 82227570:82227633:82242288:82242363:82267507:82267709 | 82242288:82242363 | ENSG00000106829.14 | ENST00000455913.1,ENST00000425506.1,ENST00000376537.4,ENST00000428713.1,ENST00000376552.2,ENST00000376520.4,ENST00000470872.1,ENST00000376544.3,ENST00000462803.1 |
| exon_skip_496684 | 9 | 82242288:82242363:82264734:82264773:82267504:82267544 | 82264734:82264773 | ENSG00000106829.14 | ENST00000435650.1 |
| exon_skip_496693 | 9 | 82267600:82267709:82268973:82268990:82319697:82319817 | 82268973:82268990 | ENSG00000106829.14 | ENST00000265284.6,ENST00000376537.4,ENST00000428713.1,ENST00000376552.2,ENST00000470872.1,ENST00000490347.1 |
| exon_skip_496695 | 9 | 82268973:82268990:82286123:82286253:82319697:82319817 | 82286123:82286253 | ENSG00000106829.14 | ENST00000376534.4,ENST00000462803.1 |
| exon_skip_496696 | 9 | 82319717:82319817:82320803:82320857:82323032:82323077 | 82320803:82320857 | ENSG00000106829.14 | ENST00000490347.1 |
| exon_skip_496698 | 9 | 82320803:82320857:82321661:82321814:82322037:82322133 | 82321661:82321814 | ENSG00000106829.14 | ENST00000376537.4,ENST00000376520.4 |
| exon_skip_496699 | 9 | 82320803:82320857:82321661:82321814:82323032:82323077 | 82321661:82321814 | ENSG00000106829.14 | ENST00000376534.4,ENST00000265284.6,ENST00000376552.2,ENST00000463431.1,ENST00000470872.1,ENST00000495170.1,ENST00000496114.1,ENST00000462803.1 |
| exon_skip_496701 | 9 | 82320803:82320857:82322037:82322133:82323032:82323077 | 82322037:82322133 | ENSG00000106829.14 | ENST00000428713.1 |
| exon_skip_496703 | 9 | 82321680:82321814:82322037:82322133:82323032:82323077 | 82322037:82322133 | ENSG00000106829.14 | ENST00000376537.4,ENST00000376520.4,ENST00000417836.1 |
| exon_skip_496704 | 9 | 82323032:82323165:82323507:82323701:82324537:82324587 | 82323507:82323701 | ENSG00000106829.14 | ENST00000376534.4,ENST00000265284.6,ENST00000376537.4,ENST00000376552.2,ENST00000376520.4,ENST00000470872.1,ENST00000417836.1,ENST00000467142.1,ENST00000496114.1,ENST00000376544.3,ENST00000462803.1 |
| exon_skip_496705 | 9 | 82324537:82324614:82332911:82332986:82333636:82333878 | 82332911:82332986 | ENSG00000106829.14 | ENST00000496114.1 |
| exon_skip_496707 | 9 | 82337365:82337516:82337873:82337950:82339951:82340148 | 82337873:82337950 | ENSG00000106829.14 | ENST00000376534.4,ENST00000265284.6,ENST00000376537.4,ENST00000376552.2,ENST00000376520.4,ENST00000470872.1,ENST00000376544.3,ENST00000462803.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TLE4 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_496668 | 9 | 82189787:82189851:82191047:82191092:82227570:82227633 | 82191047:82191092 | ENSG00000106829.14 | ENST00000376552.2,ENST00000376544.3,ENST00000376520.4,ENST00000435650.1,ENST00000376537.4,ENST00000462803.1,ENST00000376534.4,ENST00000265284.6,ENST00000425506.1,ENST00000485159.1,ENST00000466428.1,ENST00000428713.1,ENST00000455913.1 |
| exon_skip_496669 | 9 | 82191047:82191092:82216329:82216424:82227570:82227633 | 82216329:82216424 | ENSG00000106829.14 | ENST00000470872.1 |
| exon_skip_496670 | 9 | 82191047:82191092:82227570:82227633:82242288:82242363 | 82227570:82227633 | ENSG00000106829.14 | ENST00000376552.2,ENST00000376544.3,ENST00000376520.4,ENST00000435650.1,ENST00000376537.4,ENST00000462803.1,ENST00000376534.4,ENST00000425506.1,ENST00000485159.1,ENST00000466428.1,ENST00000428713.1,ENST00000455913.1 |
| exon_skip_496671 | 9 | 82191047:82191092:82227570:82227633:82267504:82267544 | 82227570:82227633 | ENSG00000106829.14 | ENST00000474519.1 |
| exon_skip_496672 | 9 | 82191047:82191092:82227570:82227633:82267507:82267709 | 82227570:82227633 | ENSG00000106829.14 | ENST00000265284.6 |
| exon_skip_496675 | 9 | 82227570:82227633:82242288:82242363:82264734:82264773 | 82242288:82242363 | ENSG00000106829.14 | ENST00000435650.1 |
| exon_skip_496676 | 9 | 82227570:82227633:82242288:82242363:82267504:82267544 | 82242288:82242363 | ENSG00000106829.14 | ENST00000414465.1,ENST00000376534.4,ENST00000496853.1 |
| exon_skip_496677 | 9 | 82227570:82227633:82242288:82242363:82267507:82267709 | 82242288:82242363 | ENSG00000106829.14 | ENST00000376552.2,ENST00000376544.3,ENST00000376520.4,ENST00000470872.1,ENST00000376537.4,ENST00000462803.1,ENST00000425506.1,ENST00000428713.1,ENST00000455913.1 |
| exon_skip_496684 | 9 | 82242288:82242363:82264734:82264773:82267504:82267544 | 82264734:82264773 | ENSG00000106829.14 | ENST00000435650.1 |
| exon_skip_496693 | 9 | 82267600:82267709:82268973:82268990:82319697:82319817 | 82268973:82268990 | ENSG00000106829.14 | ENST00000376552.2,ENST00000470872.1,ENST00000376537.4,ENST00000265284.6,ENST00000428713.1,ENST00000490347.1 |
| exon_skip_496695 | 9 | 82268973:82268990:82286123:82286253:82319697:82319817 | 82286123:82286253 | ENSG00000106829.14 | ENST00000462803.1,ENST00000376534.4 |
| exon_skip_496696 | 9 | 82319717:82319817:82320803:82320857:82323032:82323077 | 82320803:82320857 | ENSG00000106829.14 | ENST00000490347.1 |
| exon_skip_496698 | 9 | 82320803:82320857:82321661:82321814:82322037:82322133 | 82321661:82321814 | ENSG00000106829.14 | ENST00000376520.4,ENST00000376537.4 |
| exon_skip_496699 | 9 | 82320803:82320857:82321661:82321814:82323032:82323077 | 82321661:82321814 | ENSG00000106829.14 | ENST00000376552.2,ENST00000470872.1,ENST00000462803.1,ENST00000376534.4,ENST00000265284.6,ENST00000463431.1,ENST00000495170.1,ENST00000496114.1 |
| exon_skip_496701 | 9 | 82320803:82320857:82322037:82322133:82323032:82323077 | 82322037:82322133 | ENSG00000106829.14 | ENST00000428713.1 |
| exon_skip_496703 | 9 | 82321680:82321814:82322037:82322133:82323032:82323077 | 82322037:82322133 | ENSG00000106829.14 | ENST00000376520.4,ENST00000376537.4,ENST00000417836.1 |
| exon_skip_496704 | 9 | 82323032:82323165:82323507:82323701:82324537:82324587 | 82323507:82323701 | ENSG00000106829.14 | ENST00000376552.2,ENST00000376544.3,ENST00000376520.4,ENST00000470872.1,ENST00000376537.4,ENST00000462803.1,ENST00000376534.4,ENST00000265284.6,ENST00000467142.1,ENST00000496114.1,ENST00000417836.1 |
| exon_skip_496705 | 9 | 82324537:82324614:82332911:82332986:82333636:82333878 | 82332911:82332986 | ENSG00000106829.14 | ENST00000496114.1 |
| exon_skip_496707 | 9 | 82337365:82337516:82337873:82337950:82339951:82340148 | 82337873:82337950 | ENSG00000106829.14 | ENST00000376552.2,ENST00000376544.3,ENST00000376520.4,ENST00000470872.1,ENST00000376537.4,ENST00000462803.1,ENST00000376534.4,ENST00000265284.6 |
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 TLE4 |
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 |
| ENST00000376552 | 82268973 | 82268990 | Frame-shift |
| ENST00000376552 | 82323507 | 82323701 | Frame-shift |
| ENST00000376552 | 82337873 | 82337950 | Frame-shift |
| ENST00000376552 | 82191047 | 82191092 | In-frame |
| ENST00000376552 | 82227570 | 82227633 | In-frame |
| ENST00000376552 | 82242288 | 82242363 | In-frame |
| ENST00000376552 | 82321661 | 82321814 | 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 |
| ENST00000376552 | 82268973 | 82268990 | Frame-shift |
| ENST00000376552 | 82323507 | 82323701 | Frame-shift |
| ENST00000376552 | 82337873 | 82337950 | Frame-shift |
| ENST00000376552 | 82191047 | 82191092 | In-frame |
| ENST00000376552 | 82227570 | 82227633 | In-frame |
| ENST00000376552 | 82242288 | 82242363 | In-frame |
| ENST00000376552 | 82321661 | 82321814 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TLE4 |
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 |
| ENST00000376552 | 3712 | 773 | 82191047 | 82191092 | 1226 | 1270 | 69 | 84 |
| ENST00000376552 | 3712 | 773 | 82227570 | 82227633 | 1271 | 1333 | 84 | 105 |
| ENST00000376552 | 3712 | 773 | 82242288 | 82242363 | 1334 | 1408 | 105 | 130 |
| ENST00000376552 | 3712 | 773 | 82321661 | 82321814 | 1802 | 1954 | 261 | 312 |
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 |
| ENST00000376552 | 3712 | 773 | 82191047 | 82191092 | 1226 | 1270 | 69 | 84 |
| ENST00000376552 | 3712 | 773 | 82227570 | 82227633 | 1271 | 1333 | 84 | 105 |
| ENST00000376552 | 3712 | 773 | 82242288 | 82242363 | 1334 | 1408 | 105 | 130 |
| ENST00000376552 | 3712 | 773 | 82321661 | 82321814 | 1802 | 1954 | 261 | 312 |
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 TLE4 |
- 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-G3-A3CJ-01 | exon_skip_496699 exon_skip_496698 | 82321662 | 82321814 | 82321696 | 82321696 | Frame_Shift_Del | C | - | p.S273fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_496699 exon_skip_496698 | 82321662 | 82321814 | 82321719 | 82321719 | Frame_Shift_Del | A | - | p.K281fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_496668 | 82191048 | 82191092 | 82191078 | 82191078 | Nonsense_Mutation | G | T | p.E80* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_496668 | 82191048 | 82191092 | 82191078 | 82191078 | Nonsense_Mutation | G | T | p.E80X |
| STAD | TCGA-BR-6452-01 | exon_skip_496675 exon_skip_496677 exon_skip_496676 | 82242289 | 82242363 | 82242307 | 82242307 | Nonsense_Mutation | C | T | p.Q105* |
| STAD | TCGA-BR-6452-01 | exon_skip_496675 exon_skip_496677 exon_skip_496676 | 82242289 | 82242363 | 82242307 | 82242307 | Nonsense_Mutation | C | T | p.Q112X |
| LUSC | TCGA-18-3419-01 | exon_skip_496696 | 82320804 | 82320857 | 82320816 | 82320816 | Nonsense_Mutation | G | T | p.E241* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_496699 exon_skip_496698 | 82321662 | 82321814 | 82321747 | 82321747 | Nonsense_Mutation | C | T | p.R23* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_496699 exon_skip_496698 | 82321662 | 82321814 | 82321803 | 82321803 | Nonsense_Mutation | G | T | p.E309* |
| UCEC | TCGA-AP-A056-01 | exon_skip_496701 exon_skip_496703 | 82322038 | 82322133 | 82322053 | 82322053 | Nonsense_Mutation | A | T | p.K318* |
- 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 82227571 | 82227633 | 82227587 | 82227588 | Frame_Shift_Del | GG | - | p.R90fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 82227571 | 82227633 | 82227584 | 82227585 | Frame_Shift_Ins | - | AC | p.KR89fs |
| GSU_STOMACH | 82242289 | 82242363 | 82242337 | 82242337 | Missense_Mutation | A | G | p.M122V |
| ML2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82242289 | 82242363 | 82242341 | 82242341 | Missense_Mutation | C | A | p.A123E |
| SKNO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82242289 | 82242363 | 82242349 | 82242349 | Missense_Mutation | A | G | p.N126D |
| SNU324_PANCREAS | 82242289 | 82242363 | 82242352 | 82242352 | Missense_Mutation | G | A | p.A127T |
| HCC1171_LUNG | 82242289 | 82242363 | 82242352 | 82242352 | Missense_Mutation | G | A | p.A127T |
| JHUEM1_ENDOMETRIUM | 82321662 | 82321814 | 82321725 | 82321725 | Missense_Mutation | C | T | p.R283C |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82321662 | 82321814 | 82321780 | 82321780 | Missense_Mutation | G | C | p.S301T |
| CW2_LARGE_INTESTINE | 82323508 | 82323701 | 82323513 | 82323513 | Missense_Mutation | A | C | p.S359R |
| NCIH2110_LUNG | 82323508 | 82323701 | 82323622 | 82323622 | Missense_Mutation | G | T | p.G395V |
| K5_THYROID | 82323508 | 82323701 | 82323636 | 82323636 | Missense_Mutation | T | C | p.S400P |
| CW2_LARGE_INTESTINE | 82323508 | 82323701 | 82323679 | 82323679 | Missense_Mutation | C | T | p.A414V |
| EN_ENDOMETRIUM | 82337874 | 82337950 | 82337910 | 82337910 | Missense_Mutation | T | C | p.L725P |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 82337874 | 82337950 | 82337937 | 82337937 | Missense_Mutation | C | T | p.A734V |
| SNU81_LARGE_INTESTINE | 82321662 | 82321814 | 82321803 | 82321803 | Nonsense_Mutation | G | T | p.E309* |
| 253J_URINARY_TRACT | 82323508 | 82323701 | 82323548 | 82323548 | Nonsense_Mutation | T | G | p.Y370* |
| 253JBV_URINARY_TRACT | 82323508 | 82323701 | 82323548 | 82323548 | Nonsense_Mutation | T | G | p.Y370* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TLE4 |
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 TLE4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TLE4 |
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RelatedDrugs for TLE4 |
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 TLE4 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TLE4 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| TLE4 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| TLE4 | C0151744 | Myocardial Ischemia | 1 | CTD_human |