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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 TTF2 |
Gene summary |
| Gene information | Gene symbol | TTF2 | Gene ID | 8458 |
| Gene name | transcription termination factor 2 | |
| Synonyms | HuF2|ZGRF6 | |
| Cytomap | 1p13.1 | |
| Type of gene | protein-coding | |
| Description | transcription termination factor 2F2RNA polymerase II termination factorhuman factor 2lodestar homologlodestar proteintranscription release factor 2transcription termination factor, RNA polymerase IIzinc finger, GRF-type containing 6 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UNY4 | |
| Context | PubMed: TTF2 [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 TTF2 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 TTF2 |
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 TTF2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9102 | 1 | 117605008:117605095:117616282:117616349:117617491:117618066 | 117616282:117616349 | ENSG00000116830.7 | ENST00000470935.1,ENST00000369466.4 |
| exon_skip_9103 | 1 | 117620537:117620665:117622189:117622271:117624449:117624569 | 117622189:117622271 | ENSG00000116830.7 | ENST00000369466.4 |
| exon_skip_9105 | 1 | 117624452:117624569:117626639:117626790:117629038:117629144 | 117626639:117626790 | ENSG00000116830.7 | ENST00000369466.4 |
| exon_skip_9109 | 1 | 117631422:117631604:117632676:117632830:117633153:117633245 | 117632676:117632830 | ENSG00000116830.7 | ENST00000369466.4 |
| exon_skip_9110 | 1 | 117633949:117634032:117634438:117634572:117635352:117635523 | 117634438:117634572 | ENSG00000116830.7 | ENST00000369466.4 |
| exon_skip_9111 | 1 | 117637946:117637989:117638770:117638921:117639972:117640055 | 117638770:117638921 | ENSG00000116830.7 | ENST00000463696.1,ENST00000369466.4 |
| exon_skip_9112 | 1 | 117638792:117638921:117639972:117640055:117640827:117640860 | 117639972:117640055 | ENSG00000116830.7 | ENST00000463696.1 |
| exon_skip_9113 | 1 | 117638792:117638921:117639972:117640055:117641454:117641529 | 117639972:117640055 | ENSG00000116830.7 | ENST00000427271.1,ENST00000369466.4 |
| exon_skip_9115 | 1 | 117638792:117638921:117640827:117640860:117641454:117641529 | 117640827:117640860 | ENSG00000116830.7 | ENST00000492682.1 |
| exon_skip_9116 | 1 | 117639972:117640055:117640827:117640860:117641454:117641529 | 117640827:117640860 | ENSG00000116830.7 | ENST00000463696.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TTF2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9102 | 1 | 117605008:117605095:117616282:117616349:117617491:117618066 | 117616282:117616349 | ENSG00000116830.7 | ENST00000369466.4,ENST00000470935.1 |
| exon_skip_9103 | 1 | 117620537:117620665:117622189:117622271:117624449:117624569 | 117622189:117622271 | ENSG00000116830.7 | ENST00000369466.4 |
| exon_skip_9105 | 1 | 117624452:117624569:117626639:117626790:117629038:117629144 | 117626639:117626790 | ENSG00000116830.7 | ENST00000369466.4 |
| exon_skip_9109 | 1 | 117631422:117631604:117632676:117632830:117633153:117633245 | 117632676:117632830 | ENSG00000116830.7 | ENST00000369466.4 |
| exon_skip_9110 | 1 | 117633949:117634032:117634438:117634572:117635352:117635523 | 117634438:117634572 | ENSG00000116830.7 | ENST00000369466.4 |
| exon_skip_9111 | 1 | 117637946:117637989:117638770:117638921:117639972:117640055 | 117638770:117638921 | ENSG00000116830.7 | ENST00000369466.4,ENST00000463696.1 |
| exon_skip_9112 | 1 | 117638792:117638921:117639972:117640055:117640827:117640860 | 117639972:117640055 | ENSG00000116830.7 | ENST00000463696.1 |
| exon_skip_9113 | 1 | 117638792:117638921:117639972:117640055:117641454:117641529 | 117639972:117640055 | ENSG00000116830.7 | ENST00000369466.4,ENST00000427271.1 |
| exon_skip_9115 | 1 | 117638792:117638921:117640827:117640860:117641454:117641529 | 117640827:117640860 | ENSG00000116830.7 | ENST00000492682.1 |
| exon_skip_9116 | 1 | 117639972:117640055:117640827:117640860:117641454:117641529 | 117640827:117640860 | ENSG00000116830.7 | ENST00000463696.1 |
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 TTF2 |
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 |
| ENST00000369466 | 117616282 | 117616349 | Frame-shift |
| ENST00000369466 | 117622189 | 117622271 | Frame-shift |
| ENST00000369466 | 117626639 | 117626790 | Frame-shift |
| ENST00000369466 | 117632676 | 117632830 | Frame-shift |
| ENST00000369466 | 117634438 | 117634572 | Frame-shift |
| ENST00000369466 | 117638770 | 117638921 | Frame-shift |
| ENST00000369466 | 117639972 | 117640055 | Frame-shift |
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 |
| ENST00000369466 | 117616282 | 117616349 | Frame-shift |
| ENST00000369466 | 117622189 | 117622271 | Frame-shift |
| ENST00000369466 | 117626639 | 117626790 | Frame-shift |
| ENST00000369466 | 117632676 | 117632830 | Frame-shift |
| ENST00000369466 | 117634438 | 117634572 | Frame-shift |
| ENST00000369466 | 117638770 | 117638921 | Frame-shift |
| ENST00000369466 | 117639972 | 117640055 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TTF2 |
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 |
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 |
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 TTF2 |
- 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 |
| LUAD | TCGA-78-7155-01 | exon_skip_9105 | 117626640 | 117626790 | 117626641 | 117626642 | Frame_Shift_Del | CT | - | p.D635fs |
| LUAD | TCGA-38-4625-01 | exon_skip_9105 | 117626640 | 117626790 | 117626717 | 117626717 | Nonsense_Mutation | G | T | p.E661* |
| CESC | TCGA-EK-A3GK-01 | exon_skip_9110 | 117634439 | 117634572 | 117634490 | 117634490 | Nonsense_Mutation | C | G | p.S908* |
| CESC | TCGA-EK-A2RC-01 | exon_skip_9111 | 117638771 | 117638921 | 117638784 | 117638784 | Nonsense_Mutation | C | T | p.Q1017* |
| BLCA | TCGA-ZF-A9RG-01 | exon_skip_9111 | 117638771 | 117638921 | 117638919 | 117638919 | Nonsense_Mutation | C | T | p.Q1062* |
- 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 |
| NCIH23_LUNG | 117622190 | 117622271 | 117622236 | 117622236 | Frame_Shift_Del | G | - | p.W583fs |
| TOV21G_OVARY | 117626640 | 117626790 | 117626705 | 117626705 | Frame_Shift_Del | A | - | p.K657fs |
| NCIH441_LUNG | 117616283 | 117616349 | 117616333 | 117616333 | Missense_Mutation | G | A | p.G90E |
| LU134A_LUNG | 117626640 | 117626790 | 117626763 | 117626763 | Missense_Mutation | G | T | p.G676V |
| SNGM_ENDOMETRIUM | 117626640 | 117626790 | 117626771 | 117626771 | Missense_Mutation | C | T | p.R679W |
| TOV21G_OVARY | 117626640 | 117626790 | 117626780 | 117626780 | Missense_Mutation | C | T | p.R682C |
| HCT116_LARGE_INTESTINE | 117632677 | 117632830 | 117632682 | 117632682 | Missense_Mutation | T | C | p.L783P |
| NCIH2342_LUNG | 117634439 | 117634572 | 117634505 | 117634505 | Missense_Mutation | C | T | p.T913I |
| SNU1040_LARGE_INTESTINE | 117634439 | 117634572 | 117634537 | 117634537 | Missense_Mutation | C | T | p.R924C |
| SW962_VULVA | 117638771 | 117638921 | 117638845 | 117638845 | Missense_Mutation | C | A | p.A1037D |
| SW756_CERVIX | 117638771 | 117638921 | 117638871 | 117638871 | Missense_Mutation | A | G | p.K1046E |
| DAOY_CENTRAL_NERVOUS_SYSTEM | 117639973 | 117640055 | 117639983 | 117639983 | Missense_Mutation | T | C | p.I1066T |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 117616283 | 117616349 | 117616348 | 117616348 | Splice_Site | A | T | p.Q95L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TTF2 |
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 TTF2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TTF2 |
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RelatedDrugs for TTF2 |
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 TTF2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |