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Fusion gene ID: 21353 |
FusionGeneSummary for MDGA2_CSTA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MDGA2_CSTA | Fusion gene ID: 21353 | Hgene | Tgene | Gene symbol | MDGA2 | CSTA | Gene ID | 161357 | 1475 |
| Gene name | MAM domain containing glycosylphosphatidylinositol anchor 2 | cystatin A | |
| Synonyms | MAMDC1|c14_5286 | AREI|PSS4|STF1|STFA | |
| Cytomap | 14q21.3 | 3q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | MAM domain-containing glycosylphosphatidylinositol anchor protein 2MAM domain containing 1 | cystatin-Acystatin A (stefin A)cystatin AS | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q7Z553 | P01040 | |
| Ensembl transtripts involved in fusion gene | ENST00000426342, ENST00000399232, ENST00000399222, ENST00000357362, ENST00000439988, ENST00000472499, | ENST00000264474, ENST00000479204, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 7 X 6 X 4=168 |
| # samples | 2 | 7 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MDGA2 [Title/Abstract] AND CSTA [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 |
| Tgene | CSTA | GO:0010466 | negative regulation of peptidase activity | 6203523 |
| Tgene | CSTA | GO:0018149 | peptide cross-linking | 10908733 |
| Tgene | CSTA | GO:0030216 | keratinocyte differentiation | 10908733 |
| Tgene | CSTA | GO:0045861 | negative regulation of proteolysis | 3488317 |
| 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 | BE840752 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| * 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-5UTR | ENST00000426342 | ENST00000264474 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000426342 | ENST00000479204 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000399232 | ENST00000264474 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000399232 | ENST00000479204 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000399222 | ENST00000264474 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000399222 | ENST00000479204 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000357362 | ENST00000264474 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000357362 | ENST00000479204 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000439988 | ENST00000264474 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000439988 | ENST00000479204 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000472499 | ENST00000264474 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
| intron-5UTR | ENST00000472499 | ENST00000479204 | MDGA2 | chr14 | 47730706 | + | CSTA | chr3 | 122044117 | + |
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FusionProtFeatures for MDGA2_CSTA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MDGA2 | CSTA |