|
||||||
|
 | |
| |
| |
| |
| 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 CTU2 |
 Gene summary |
| Gene information | Gene symbol | CTU2 | Gene ID | 348180 |
| Gene name | cytosolic thiouridylase subunit 2 | |
| Synonyms | C16orf84|NCS2|UPF0432 | |
| Cytomap | 16q24.3 | |
| Type of gene | protein-coding | |
| Description | cytoplasmic tRNA 2-thiolation protein 2cytosolic thiouridylase subunit 2 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q2VPK5 | |
| Context | PubMed: CTU2 [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 |
Top |
Exon skipping events across known transcript of Ensembl for CTU2 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 CTU2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for CTU2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_139358 | 16 | 88772952:88773006:88773543:88773618:88776345:88776424 | 88773543:88773618 | ENSG00000174177.8 | ENST00000312060.5,ENST00000567949.1,ENST00000565071.1 |
| exon_skip_139359 | 16 | 88772952:88773006:88773543:88773618:88776630:88776690 | 88773543:88773618 | ENSG00000174177.8 | ENST00000378384.3,ENST00000564105.1 |
| exon_skip_139366 | 16 | 88773553:88773618:88776345:88776424:88776630:88776690 | 88776345:88776424 | ENSG00000174177.8 | ENST00000312060.5,ENST00000453996.2,ENST00000567949.1,ENST00000565071.1,ENST00000564921.1 |
| exon_skip_139369 | 16 | 88773543:88773618:88776630:88776690:88778042:88778103 | 88776630:88776690 | ENSG00000174177.8 | ENST00000378384.3,ENST00000564105.1 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENSG00000174177.8 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 |
| exon_skip_139374 | 16 | 88780054:88780186:88780543:88780635:88780790:88780894 | 88780543:88780635 | ENSG00000174177.8 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564584.1,ENST00000564105.1 |
| exon_skip_139378 | 16 | 88781267:88781334:88781455:88781514:88781589:88781728 | 88781455:88781514 | ENSG00000174177.8 | ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for CTU2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_139358 | 16 | 88772952:88773006:88773543:88773618:88776345:88776424 | 88773543:88773618 | ENSG00000174177.8 | ENST00000312060.5,ENST00000567949.1,ENST00000565071.1 |
| exon_skip_139359 | 16 | 88772952:88773006:88773543:88773618:88776630:88776690 | 88773543:88773618 | ENSG00000174177.8 | ENST00000564105.1,ENST00000378384.3 |
| exon_skip_139366 | 16 | 88773553:88773618:88776345:88776424:88776630:88776690 | 88776345:88776424 | ENSG00000174177.8 | ENST00000453996.2,ENST00000312060.5,ENST00000567949.1,ENST00000565071.1,ENST00000564921.1 |
| exon_skip_139369 | 16 | 88773543:88773618:88776630:88776690:88778042:88778103 | 88776630:88776690 | ENSG00000174177.8 | ENST00000564105.1,ENST00000378384.3 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENSG00000174177.8 | ENST00000453996.2,ENST00000564105.1,ENST00000312060.5,ENST00000378384.3,ENST00000567949.1,ENST00000566637.1 |
| exon_skip_139374 | 16 | 88780054:88780186:88780543:88780635:88780790:88780894 | 88780543:88780635 | ENSG00000174177.8 | ENST00000453996.2,ENST00000564105.1,ENST00000312060.5,ENST00000378384.3,ENST00000567949.1,ENST00000566637.1,ENST00000564584.1 |
| exon_skip_139378 | 16 | 88781267:88781334:88781455:88781514:88781589:88781728 | 88781455:88781514 | ENSG00000174177.8 | ENST00000453996.2,ENST00000564105.1,ENST00000378384.3,ENST00000567949.1,ENST00000566637.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CTU2 |
| 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 |
| ENST00000453996 | 88776345 | 88776424 | Frame-shift |
| ENST00000453996 | 88779719 | 88779855 | Frame-shift |
| ENST00000453996 | 88780543 | 88780635 | Frame-shift |
| ENST00000453996 | 88781455 | 88781514 | 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 |
| ENST00000453996 | 88776345 | 88776424 | Frame-shift |
| ENST00000453996 | 88779719 | 88779855 | Frame-shift |
| ENST00000453996 | 88780543 | 88780635 | Frame-shift |
| ENST00000453996 | 88781455 | 88781514 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for CTU2 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for CTU2 |
| - 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 |
| LGG | TCGA-DU-6392-01 | exon_skip_139369 | 88776631 | 88776690 | 88776649 | 88776649 | Frame_Shift_Del | G | - | p.G82fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_139373 | 88779720 | 88779855 | 88779749 | 88779749 | Frame_Shift_Del | C | - | p.A327fs |
| UCEC | TCGA-AP-A0LJ-01 | exon_skip_139374 | 88780544 | 88780635 | 88780635 | 88780640 | Frame_Shift_Del | GGTGTG | - | p.T367fs |
| BRCA | TCGA-AO-A1KR-01 | exon_skip_139374 | 88780544 | 88780635 | 88780635 | 88780636 | Frame_Shift_Ins | - | GTGT | p.T367fs |
| BRCA | TCGA-D8-A27W-01 | exon_skip_139374 | 88780544 | 88780635 | 88780635 | 88780636 | Frame_Shift_Ins | - | GTGT | p.T367fs |
| BRCA | TCGA-E2-A1LS-01 | exon_skip_139374 | 88780544 | 88780635 | 88780635 | 88780636 | Frame_Shift_Ins | - | GTGT | p.T367fs |
| BRCA | TCGA-EW-A1J3-01 | exon_skip_139374 | 88780544 | 88780635 | 88780635 | 88780636 | Frame_Shift_Ins | - | GTGT | p.T367fs |
| COAD | TCGA-AM-5821-01 | exon_skip_139374 | 88780544 | 88780635 | 88780635 | 88780636 | Frame_Shift_Ins | - | GTGT | p.R366fs |
| COAD | TCGA-G4-6320-01 | exon_skip_139373 | 88779720 | 88779855 | 88779745 | 88779745 | Nonsense_Mutation | C | T | p.R255X |
| - 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 |
| LS411N_LARGE_INTESTINE | 88776346 | 88776424 | 88776369 | 88776369 | Missense_Mutation | T | C | p.V56A |
| HEC265_ENDOMETRIUM | 88776631 | 88776690 | 88776668 | 88776668 | Missense_Mutation | C | A | p.S87Y |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CTU2 |
| 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 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | GBM | rs73262667 | chr16:88779753 | C/T | 1.23e-04 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | GBM | rs73262667 | chr16:88779753 | C/T | 3.09e-04 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | HNSC | rs73262667 | chr16:88779753 | C/T | 2.05e-07 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | LGG | rs73262667 | chr16:88779753 | C/T | 5.96e-07 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | LGG | rs73262667 | chr16:88779753 | C/T | 4.57e-05 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | KIRC | rs73262667 | chr16:88779753 | C/T | 2.89e-03 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | LUSC | rs73262667 | chr16:88779753 | C/T | 5.91e-08 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | LUSC | rs73262667 | chr16:88779753 | C/T | 1.55e-04 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | LUSC | rs73262667 | chr16:88779753 | C/T | 3.03e-04 |
| exon_skip_139373 | 16 | 88779029:88779313:88779719:88779855:88780054:88780186 | 88779719:88779855 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564105.1 | THCA | rs73262667 | chr16:88779753 | C/T | 5.23e-07 |
| exon_skip_139374 | 16 | 88780054:88780186:88780543:88780635:88780790:88780894 | 88780543:88780635 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564584.1,ENST00000564105.1 | LGG | rs11278302 | chr16:88780634 | AGGTGTG/A | 2.90e-04 |
| exon_skip_139374 | 16 | 88780054:88780186:88780543:88780635:88780790:88780894 | 88780543:88780635 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564584.1,ENST00000564105.1 | LGG | rs11278302 | chr16:88780634 | AGGTGTG/A | 1.18e-03 |
| exon_skip_139374 | 16 | 88780054:88780186:88780543:88780635:88780790:88780894 | 88780543:88780635 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564584.1,ENST00000564105.1 | LUSC | rs11278302 | chr16:88780634 | AGGTGTG/A | 2.04e-03 |
| exon_skip_139374 | 16 | 88780054:88780186:88780543:88780635:88780790:88780894 | 88780543:88780635 | ENST00000312060.5,ENST00000378384.3,ENST00000453996.2,ENST00000567949.1,ENST00000566637.1,ENST00000564584.1,ENST00000564105.1 | THCA | rs11278302 | chr16:88780634 | AGGTGTG/A | 2.42e-03 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTU2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CTU2 |
Top |
RelatedDrugs for CTU2 |
| 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 CTU2 |
| 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)
|