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Fusion gene ID: 17917 |
FusionGeneSummary for ITM2C_COL1A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ITM2C_COL1A2 | Fusion gene ID: 17917 | Hgene | Tgene | Gene symbol | ITM2C | COL1A2 | Gene ID | 81618 | 1278 |
| Gene name | integral membrane protein 2C | collagen type I alpha 2 chain | |
| Synonyms | BRI3|BRICD2C|E25|E25C|ITM3 | EDSARTH2|EDSCV|OI4 | |
| Cytomap | 2q37.1 | 7q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | integral membrane protein 2CBRICHOS domain containing 2Ccerebral protein 14integral membrane protein 3transmembrane protein BRI3 | collagen alpha-2(I) chainalpha 2 type I procollagenalpha 2(I) procollagenalpha 2(I)-collagenalpha-2 type I collagencollagen I, alpha-2 polypeptidecollagen of skin, tendon and bone, alpha-2 chaincollagen, type I, alpha 2type I procollagen | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9NQX7 | P08123 | |
| Ensembl transtripts involved in fusion gene | ENST00000326427, ENST00000335005, ENST00000326407, ENST00000409704, ENST00000492029, | ENST00000297268, | |
| Fusion gene scores | * DoF score | 9 X 7 X 5=315 | 17 X 22 X 6=2244 |
| # samples | 9 | 22 | |
| ** MAII score | log2(9/315*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/2244*10)=-3.35049724708413 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ITM2C [Title/Abstract] AND COL1A2 [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 | ITM2C | GO:0010977 | negative regulation of neuron projection development | 18452648 |
| Hgene | ITM2C | GO:0030182 | neuron differentiation | 18452648 |
| Tgene | COL1A2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 17217948 |
| Tgene | COL1A2 | GO:0007266 | Rho protein signal transduction | 17217948 |
| 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 | SARC | TCGA-SI-AA8C-01A | ITM2C | chr2 | 231740523 | + | COL1A2 | chr7 | 94043534 | + |
| * 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 | ENST00000326427 | ENST00000297268 | ITM2C | chr2 | 231740523 | + | COL1A2 | chr7 | 94043534 | + |
| In-frame | ENST00000335005 | ENST00000297268 | ITM2C | chr2 | 231740523 | + | COL1A2 | chr7 | 94043534 | + |
| In-frame | ENST00000326407 | ENST00000297268 | ITM2C | chr2 | 231740523 | + | COL1A2 | chr7 | 94043534 | + |
| In-frame | ENST00000409704 | ENST00000297268 | ITM2C | chr2 | 231740523 | + | COL1A2 | chr7 | 94043534 | + |
| 3UTR-3CDS | ENST00000492029 | ENST00000297268 | ITM2C | chr2 | 231740523 | + | COL1A2 | chr7 | 94043534 | + |
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FusionProtFeatures for ITM2C_COL1A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ITM2C | COL1A2 |