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Fusion gene ID: 19894 |
FusionGeneSummary for LMNA_COL1A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LMNA_COL1A1 | Fusion gene ID: 19894 | Hgene | Tgene | Gene symbol | LMNA | COL1A1 | Gene ID | 4000 | 1277 |
| Gene name | lamin A/C | collagen type I alpha 1 chain | |
| Synonyms | CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1 | EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | |
| Cytomap | 1q22 | 17q21.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lamin70 kDa laminlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32 | collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P02545 | P02452 | |
| Ensembl transtripts involved in fusion gene | ENST00000368301, ENST00000361308, ENST00000347559, ENST00000368300, ENST00000368299, ENST00000448611, ENST00000368297, ENST00000473598, ENST00000392353, ENST00000496738, | ENST00000225964, | |
| Fusion gene scores | * DoF score | 11 X 12 X 6=792 | 25 X 35 X 6=5250 |
| # samples | 14 | 39 | |
| ** MAII score | log2(14/792*10)=-2.50007360313464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/5250*10)=-3.75077139369124 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LMNA [Title/Abstract] AND COL1A1 [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 | LMNA | GO:0090343 | positive regulation of cell aging | 20458013 |
| Tgene | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
| Tgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
| Tgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
| Tgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
| Tgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
| 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-DX-A1KY-01A | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| * 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 | ENST00000368301 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| intron-3CDS | ENST00000361308 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| In-frame | ENST00000347559 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| In-frame | ENST00000368300 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| intron-3CDS | ENST00000368299 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| In-frame | ENST00000448611 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| intron-3CDS | ENST00000368297 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| In-frame | ENST00000473598 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| intron-3CDS | ENST00000392353 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
| 3UTR-3CDS | ENST00000496738 | ENST00000225964 | LMNA | chr1 | 156108548 | + | COL1A1 | chr17 | 48273728 | - |
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FusionProtFeatures for LMNA_COL1A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LMNA | COL1A1 |