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Fusion gene ID: 8525 |
FusionGeneSummary for CRTC1_EWSR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CRTC1_EWSR1 | Fusion gene ID: 8525 | Hgene | Tgene | Gene symbol | CRTC1 | EWSR1 | Gene ID | 23373 | 2130 |
| Gene name | CREB regulated transcription coactivator 1 | EWS RNA binding protein 1 | |
| Synonyms | MECT1|TORC-1|TORC1|WAMTP1 | EWS|EWS-FLI1|bK984G1.4 | |
| Cytomap | 19p13.11 | 22q12.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CREB-regulated transcription coactivator 1mucoepidermoid carcinoma translocated protein 1transducer of regulated cAMP response element-binding protein (CREB) 1 | RNA-binding protein EWSEWS RNA-binding protein variant 6Ewing sarcoma breakpoint region 1Ewings sarcoma EWS-Fli1 (type 1) oncogene | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q6UUV9 | Q01844 | |
| Ensembl transtripts involved in fusion gene | ENST00000321949, ENST00000338797, ENST00000594658, ENST00000601916, | ENST00000332050, ENST00000397938, ENST00000406548, ENST00000331029, ENST00000414183, ENST00000333395, ENST00000332035, | |
| Fusion gene scores | * DoF score | 7 X 4 X 4=112 | 8 X 20 X 7=1120 |
| # samples | 9 | 21 | |
| ** MAII score | log2(9/112*10)=-0.315501825727929 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(21/1120*10)=-2.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CRTC1 [Title/Abstract] AND EWSR1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | CRTC1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14536081 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AW803220 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000321949 | ENST00000332050 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000321949 | ENST00000397938 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000321949 | ENST00000406548 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000321949 | ENST00000331029 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000321949 | ENST00000414183 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-intron | ENST00000321949 | ENST00000333395 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-intron | ENST00000321949 | ENST00000332035 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000338797 | ENST00000332050 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000338797 | ENST00000397938 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000338797 | ENST00000406548 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000338797 | ENST00000331029 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000338797 | ENST00000414183 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-intron | ENST00000338797 | ENST00000333395 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-intron | ENST00000338797 | ENST00000332035 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000594658 | ENST00000332050 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000594658 | ENST00000397938 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000594658 | ENST00000406548 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000594658 | ENST00000331029 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000594658 | ENST00000414183 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-intron | ENST00000594658 | ENST00000333395 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-intron | ENST00000594658 | ENST00000332035 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000601916 | ENST00000332050 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000601916 | ENST00000397938 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000601916 | ENST00000406548 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000601916 | ENST00000331029 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-3CDS | ENST00000601916 | ENST00000414183 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-intron | ENST00000601916 | ENST00000333395 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
| intron-intron | ENST00000601916 | ENST00000332035 | CRTC1 | chr19 | 18880481 | + | EWSR1 | chr22 | 29695762 | + |
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FusionProtFeatures for CRTC1_EWSR1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CRTC1 | EWSR1 |
| Might normally function as a transcriptional repressor.EWS-fusion-proteins (EFPS) may play a role in the tumorigenicprocess. They may disturb gene expression by mimicking, orinterfering with the normal function of CTD-POLII within thetranscription initiation complex. They may also contribute to anaberrant activation of the fusion protein target genes. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CRTC1_EWSR1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for CRTC1_EWSR1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CRTC1_EWSR1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CRTC1_EWSR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CRTC1 | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human |
| Hgene | CRTC1 | C0525045 | Mood Disorders | 1 | PSYGENET |
| Tgene | EWSR1 | C0553580 | Ewings sarcoma | 3 | CTD_human;HPO;ORPHANET |
| Tgene | EWSR1 | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
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