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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | MAML2|MECT1|Mam-2|TORC-1|TORC1|WAMTP1 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | CREB-regulated transcription coactivator 1Mastermind-like protein 2mucoepidermoid carcinoma translocated protein 1transducer of regulated cAMP response element-binding protein (CREB) 1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for CRTC1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000105662
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| TC | UP | ENST00000601916.1 | CRTC1-204:protein_coding:CRTC1 | 3.214232e+00 | 2.420424e+00 | 5.020893e-03 | 3.362319e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CRTC1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_116368 | chr19 | 18743009:18743026:18744108:18744155:18745823:18745960 | 18744108:18744155 |
| exon_skip_165242 | chr19 | 18760138:18760228:18765404:18765528:18768485:18768793 | 18765404:18765528 |
| exon_skip_233144 | chr19 | 18771442:18771546:18774900:18774986:18775641:18775821 | 18774900:18774986 |
| exon_skip_255709 | chr19 | 18760138:18760228:18765404:18765528:18775641:18775821 | 18765404:18765528 |
| exon_skip_264226 | chr19 | 18768743:18768793:18771442:18771546:18774900:18774986 | 18771442:18771546 |
| exon_skip_53938 | chr19 | 18760008:18760228:18765404:18765528:18775641:18775821 | 18765404:18765528 |
| exon_skip_69913 | chr19 | 18771457:18771546:18774900:18774986:18775641:18775821 | 18774900:18774986 |
| exon_skip_78202 | chr19 | 18765404:18765528:18768485:18768793:18771442:18771546 | 18768485:18768793 |
| exon_skip_83952 | chr19 | 18683680:18683828:18742910:18743026:18745823:18745960 | 18742910:18743026 |
| exon_skip_88781 | chr19 | 18742910:18743026:18744108:18744155:18745823:18745960 | 18744108:18744155 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000321949 | 18742910 | 18743026 | In-frame |
| ENST00000321949 | 18768485 | 18768793 | In-frame |
| ENST00000321949 | 18771442 | 18771546 | In-frame |
| ENST00000321949 | 18774900 | 18774986 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000321949 | 18774900 | 18774986 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000321949 | 18765404 | 18765528 | Frame-shift |
| ENST00000321949 | 18768485 | 18768793 | In-frame |
| ENST00000321949 | 18771442 | 18771546 | In-frame |
| ENST00000321949 | 18774900 | 18774986 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CRTC1 |
p-ENSG00000105662_img4.png |
| Loci of skipped exons in ROSMAP 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 | 18742910 | 18743026 | 154 | 269 | 42 | 81 |
| ENST00000321949 | 2518 | 634 | 18768485 | 18768793 | 1039 | 1346 | 337 | 440 |
| ENST00000321949 | 2518 | 634 | 18771442 | 18771546 | 1348 | 1451 | 440 | 475 |
| ENST00000321949 | 2518 | 634 | 18774900 | 18774986 | 1453 | 1538 | 475 | 504 |
| Loci of skipped exons in MSBB 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 | 18774900 | 18774986 | 1453 | 1538 | 475 | 504 |
| Loci of skipped exons in Mayo 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 | 18768485 | 18768793 | 1039 | 1346 | 337 | 440 |
| ENST00000321949 | 2518 | 634 | 18771442 | 18771546 | 1348 | 1451 | 440 | 475 |
| ENST00000321949 | 2518 | 634 | 18774900 | 18774986 | 1453 | 1538 | 475 | 504 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q6UUV9 | 42 | 81 | 81 | 81 | Alternative sequence | ID=VSP_051749;Note=In isoform 2. Q->QPSGFLGEALAAAPVSL;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:9734811;Dbxref=PMID:14506290,PMID:9734811 |
| Q6UUV9 | 42 | 81 | 1 | 634 | Chain | ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 |
| Q6UUV9 | 42 | 81 | 64 | 64 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q68ED7 |
| Q6UUV9 | 42 | 81 | 42 | 43 | Site | Note=Breakpoint for translocation to form the MECT1-MAML2 and MAML2-MECT1 fusion proteins;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12539049,ECO:0000269|PubMed:14720503;Dbxref=PMID:12539049,PMID:14720503 |
| Q6UUV9 | 337 | 440 | 1 | 634 | Chain | ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 |
| Q6UUV9 | 337 | 440 | 299 | 366 | Compositional bias | Note=Ser-rich |
| Q6UUV9 | 337 | 440 | 384 | 384 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6UUV9 | 440 | 475 | 475 | 503 | Alternative sequence | ID=VSP_051750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12539049,ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:14702039;Dbxref=PMID:12539049,PMID:14506290,PMID:14702039 |
| Q6UUV9 | 440 | 475 | 1 | 634 | Chain | ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 |
| Q6UUV9 | 475 | 504 | 475 | 503 | Alternative sequence | ID=VSP_051750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12539049,ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:14702039;Dbxref=PMID:12539049,PMID:14506290,PMID:14702039 |
| Q6UUV9 | 475 | 504 | 1 | 634 | Chain | ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q6UUV9 | 475 | 504 | 475 | 503 | Alternative sequence | ID=VSP_051750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12539049,ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:14702039;Dbxref=PMID:12539049,PMID:14506290,PMID:14702039 |
| Q6UUV9 | 475 | 504 | 1 | 634 | Chain | ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q6UUV9 | 337 | 440 | 1 | 634 | Chain | ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 |
| Q6UUV9 | 337 | 440 | 299 | 366 | Compositional bias | Note=Ser-rich |
| Q6UUV9 | 337 | 440 | 384 | 384 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6UUV9 | 440 | 475 | 475 | 503 | Alternative sequence | ID=VSP_051750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12539049,ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:14702039;Dbxref=PMID:12539049,PMID:14506290,PMID:14702039 |
| Q6UUV9 | 440 | 475 | 1 | 634 | Chain | ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 |
| Q6UUV9 | 475 | 504 | 475 | 503 | Alternative sequence | ID=VSP_051750;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12539049,ECO:0000303|PubMed:14506290,ECO:0000303|PubMed:14702039;Dbxref=PMID:12539049,PMID:14506290,PMID:14702039 |
| Q6UUV9 | 475 | 504 | 1 | 634 | Chain | ID=PRO_0000096354;Note=CREB-regulated transcription coactivator 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CRTC1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for CRTC1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for CRTC1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CRTC1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CRTC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_69913 | -5.464430e-01 | 9.286907e-14 |
| TC | HNRNPH2 | exon_skip_116368 | 4.794897e-01 | 1.410072e-10 |
| TC | ESRP1 | exon_skip_116368 | 5.418924e-01 | 1.362738e-13 |
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RelatedDrugs for CRTC1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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 |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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