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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 CRTC1 |
 Gene summary |
| Gene information | Gene symbol | CRTC1 | Gene ID | 23373 |
| Gene name | CREB regulated transcription coactivator 1 | |
| Synonyms | MECT1|TORC-1|TORC1|WAMTP1 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | CREB-regulated transcription coactivator 1mucoepidermoid carcinoma translocated protein 1transducer of regulated cAMP response element-binding protein (CREB) 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6UUV9 | |
| Context | PubMed: CRTC1 [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 |
| CRTC1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14536081 |
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Exon skipping events across known transcript of Ensembl for CRTC1 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 CRTC1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CRTC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_304070 | 19 | 18853719:18853836:18854917:18854965:18856632:18856770 | 18854917:18854965 | ENSG00000105662.11 | ENST00000338797.6 |
| exon_skip_304072 | 19 | 18870817:18871038:18876213:18876338:18886450:18886631 | 18876213:18876338 | ENSG00000105662.11 | ENST00000601916.1 |
| exon_skip_304075 | 19 | 18876213:18876338:18879294:18879603:18882251:18882356 | 18879294:18879603 | ENSG00000105662.11 | ENST00000338797.6,ENST00000594658.1,ENST00000321949.8 |
| exon_skip_304102 | 19 | 18879552:18879603:18882251:18882356:18885709:18885796 | 18882251:18882356 | ENSG00000105662.11 | ENST00000338797.6,ENST00000594658.1,ENST00000321949.8 |
| exon_skip_304111 | 19 | 18882251:18882356:18885709:18885796:18886450:18886631 | 18885709:18885796 | ENSG00000105662.11 | ENST00000338797.6,ENST00000594658.1,ENST00000321949.8 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CRTC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_304070 | 19 | 18853719:18853836:18854917:18854965:18856632:18856770 | 18854917:18854965 | ENSG00000105662.11 | ENST00000338797.6 |
| exon_skip_304072 | 19 | 18870817:18871038:18876213:18876338:18886450:18886631 | 18876213:18876338 | ENSG00000105662.11 | ENST00000601916.1 |
| exon_skip_304075 | 19 | 18876213:18876338:18879294:18879603:18882251:18882356 | 18879294:18879603 | ENSG00000105662.11 | ENST00000321949.8,ENST00000338797.6,ENST00000594658.1 |
| exon_skip_304102 | 19 | 18879552:18879603:18882251:18882356:18885709:18885796 | 18882251:18882356 | ENSG00000105662.11 | ENST00000321949.8,ENST00000338797.6,ENST00000594658.1 |
| exon_skip_304111 | 19 | 18882251:18882356:18885709:18885796:18886450:18886631 | 18885709:18885796 | ENSG00000105662.11 | ENST00000321949.8,ENST00000338797.6,ENST00000594658.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CRTC1 |
| 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 |
| ENST00000321949 | 18879294 | 18879603 | In-frame |
| ENST00000321949 | 18882251 | 18882356 | In-frame |
| ENST00000321949 | 18885709 | 18885796 | 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 |
| ENST00000321949 | 18879294 | 18879603 | In-frame |
| ENST00000321949 | 18882251 | 18882356 | In-frame |
| ENST00000321949 | 18885709 | 18885796 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CRTC1 |
| 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 |
| ENST00000321949 | 2518 | 634 | 18879294 | 18879603 | 1038 | 1346 | 337 | 440 |
| ENST00000321949 | 2518 | 634 | 18882251 | 18882356 | 1347 | 1451 | 440 | 475 |
| ENST00000321949 | 2518 | 634 | 18885709 | 18885796 | 1452 | 1538 | 475 | 504 |
| 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 |
| ENST00000321949 | 2518 | 634 | 18879294 | 18879603 | 1038 | 1346 | 337 | 440 |
| ENST00000321949 | 2518 | 634 | 18882251 | 18882356 | 1347 | 1451 | 440 | 475 |
| ENST00000321949 | 2518 | 634 | 18885709 | 18885796 | 1452 | 1538 | 475 | 504 |
| 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 CRTC1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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-A3A0-01 | exon_skip_304070 | 18854918 | 18854965 | 18854932 | 18854932 | Frame_Shift_Del | G | - | p.L86fs |
| COAD | TCGA-A6-5665-01 | exon_skip_304072 | 18876214 | 18876338 | 18876263 | 18876263 | Frame_Shift_Del | C | - | p.S312fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_304075 | 18879295 | 18879603 | 18879546 | 18879546 | Frame_Shift_Del | C | - | p.L437fs |
| COAD | TCGA-AA-3492-01 | exon_skip_304075 | 18879295 | 18879603 | 18879554 | 18879554 | Frame_Shift_Del | C | - | p.S424fs |
| COAD | TCGA-A6-6653-01 | exon_skip_304075 | 18879295 | 18879603 | 18879553 | 18879554 | Frame_Shift_Ins | - | C | p.S424fs |
| COAD | TCGA-AD-6964-01 | exon_skip_304075 | 18879295 | 18879603 | 18879553 | 18879554 | Frame_Shift_Ins | - | C | p.S424fs |
| COAD | TCGA-G4-6586-01 | exon_skip_304075 | 18879295 | 18879603 | 18879553 | 18879554 | Frame_Shift_Ins | - | C | p.S424fs |
| - 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 |
| HEC59_ENDOMETRIUM | 18879295 | 18879603 | 18879554 | 18879554 | Frame_Shift_Del | C | - | p.S424fs |
| NCIH1770_LUNG | 18882252 | 18882356 | 18882347 | 18882352 | In_Frame_Del | CTCCCC | - | p.472_474SSP>R |
| NCIH2106_LUNG | 18882252 | 18882356 | 18882347 | 18882352 | In_Frame_Del | CTCCCC | - | p.472_474SSP>R |
| BFTC909_KIDNEY | 18876214 | 18876338 | 18876234 | 18876234 | Missense_Mutation | T | A | p.S303T |
| HEC265_ENDOMETRIUM | 18879295 | 18879603 | 18879374 | 18879374 | Missense_Mutation | C | T | p.P364L |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18879295 | 18879603 | 18879395 | 18879395 | Missense_Mutation | C | T | p.P371L |
| NO11_CENTRAL_NERVOUS_SYSTEM | 18879295 | 18879603 | 18879581 | 18879581 | Missense_Mutation | C | T | p.S433L |
| HCC1171_LUNG | 18882252 | 18882356 | 18882304 | 18882304 | Missense_Mutation | C | T | p.S458F |
| LN215_CENTRAL_NERVOUS_SYSTEM | 18882252 | 18882356 | 18882325 | 18882325 | Missense_Mutation | A | G | p.N465S |
| CCK81_LARGE_INTESTINE | 18885710 | 18885796 | 18885728 | 18885728 | Missense_Mutation | A | G | p.S482G |
| HCT15_LARGE_INTESTINE | 18885710 | 18885796 | 18885729 | 18885729 | Missense_Mutation | G | A | p.S482N |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 18885710 | 18885796 | 18885764 | 18885764 | Missense_Mutation | G | A | p.A494T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 18885710 | 18885796 | 18885792 | 18885792 | Missense_Mutation | A | G | p.H503R |
| ROS50_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18879295 | 18879603 | 18879295 | 18879295 | Splice_Site | G | T | p.A338S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CRTC1 |
| 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 CRTC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CRTC1 |
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RelatedDrugs for CRTC1 |
| 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 CRTC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CRTC1 | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human |
| CRTC1 | C0525045 | Mood Disorders | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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