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Fusion gene ID: 8676 |
FusionGeneSummary for CSPP1_TERF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CSPP1_TERF1 | Fusion gene ID: 8676 | Hgene | Tgene | Gene symbol | CSPP1 | TERF1 | Gene ID | 79848 | 7013 |
| Gene name | centrosome and spindle pole associated protein 1 | telomeric repeat binding factor 1 | |
| Synonyms | CSPP|JBTS21 | PIN2|TRBF1|TRF|TRF1|hTRF1-AS|t-TRF1 | |
| Cytomap | 8q13.1-q13.2 | 8q21.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | centrosome and spindle pole-associated protein 1 | telomeric repeat-binding factor 1NIMA-interacting protein 2TTAGGG repeat-binding factor 1telomeric protein Pin2/TRF1telomeric repeat binding factor (NIMA-interacting) 1 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q1MSJ5 | P54274 | |
| Ensembl transtripts involved in fusion gene | ENST00000412460, ENST00000262210, ENST00000521168, | ENST00000276603, ENST00000276602, ENST00000520783, | |
| Fusion gene scores | * DoF score | 7 X 7 X 7=343 | 4 X 3 X 3=36 |
| # samples | 8 | 4 | |
| ** MAII score | log2(8/343*10)=-2.10013667128545 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CSPP1 [Title/Abstract] AND TERF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Transcription factor involved fusion gene, inframe and retained DNA-binding domain. | ||
| * 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 |
| Tgene | TERF1 | GO:0007004 | telomere maintenance via telomerase | 23685356 |
| Tgene | TERF1 | GO:0008156 | negative regulation of DNA replication | 11327863 |
| Tgene | TERF1 | GO:1905778 | negative regulation of exonuclease activity | 15200954 |
| Tgene | TERF1 | GO:1905839 | negative regulation of telomeric D-loop disassembly | 15200954 |
| 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 |
| TCGA | LD | COAD | TCGA-RU-A8FL-01A | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
| * 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 |
| In-frame | ENST00000412460 | ENST00000276603 | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
| Frame-shift | ENST00000412460 | ENST00000276602 | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
| 5CDS-intron | ENST00000412460 | ENST00000520783 | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
| In-frame | ENST00000262210 | ENST00000276603 | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
| Frame-shift | ENST00000262210 | ENST00000276602 | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
| 5CDS-intron | ENST00000262210 | ENST00000520783 | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
| intron-3CDS | ENST00000521168 | ENST00000276603 | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
| intron-3CDS | ENST00000521168 | ENST00000276602 | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
| intron-intron | ENST00000521168 | ENST00000520783 | CSPP1 | chr8 | 68015370 | + | TERF1 | chr8 | 73958196 | + |
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FusionProtFeatures for CSPP1_TERF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CSPP1 | TERF1 |