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Fusion gene ID: 20710 |
FusionGeneSummary for MAML3_CLGN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAML3_CLGN | Fusion gene ID: 20710 | Hgene | Tgene | Gene symbol | MAML3 | CLGN | Gene ID | 55534 | 4312 |
| Gene name | mastermind like transcriptional coactivator 3 | matrix metallopeptidase 1 | |
| Synonyms | CAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3|mam-3 | CLG|CLGN | |
| Cytomap | 4q31.1 | 11q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mastermind-like protein 3CAG repeat containing (glia-derived nexin I alpha)expanded repeat domain, CAG/CTG 3polyglutamine richtrinucleotide repeat containing 3 | interstitial collagenasefibroblast collagenasematrix metallopeptidase 1 (interstitial collagenase)matrix metalloprotease 1matrix metalloproteinase 1 | |
| Modification date | 20180524 | 20180522 | |
| UniProtAcc | Q96JK9 | O14967 | |
| Ensembl transtripts involved in fusion gene | ENST00000509479, ENST00000327122, ENST00000398940, | ENST00000414773, ENST00000325617, ENST00000537281, | |
| Fusion gene scores | * DoF score | 14 X 7 X 6=588 | 2 X 2 X 2=8 |
| # samples | 14 | 2 | |
| ** MAII score | log2(14/588*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: MAML3 [Title/Abstract] AND CLGN [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 | MAML3 | GO:0007219 | Notch signaling pathway | 12370315 |
| Hgene | MAML3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12370315 |
| Tgene | CLGN | GO:0006508 | proteolysis | 15863497|19022250 |
| Tgene | CLGN | GO:0032461 | positive regulation of protein oligomerization | 19022250 |
| 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 | BRCA | TCGA-A2-A0SX-01A | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
| * 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 |
| Frame-shift | ENST00000509479 | ENST00000414773 | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
| Frame-shift | ENST00000509479 | ENST00000325617 | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
| Frame-shift | ENST00000509479 | ENST00000537281 | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
| intron-3CDS | ENST00000327122 | ENST00000414773 | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
| intron-3CDS | ENST00000327122 | ENST00000325617 | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
| intron-3CDS | ENST00000327122 | ENST00000537281 | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
| intron-3CDS | ENST00000398940 | ENST00000414773 | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
| intron-3CDS | ENST00000398940 | ENST00000325617 | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
| intron-3CDS | ENST00000398940 | ENST00000537281 | MAML3 | chr4 | 141074014 | - | CLGN | chr4 | 141320194 | - |
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FusionProtFeatures for MAML3_CLGN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAML3 | CLGN |