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Fusion gene ID: 35940 |
FusionGeneSummary for SREBF2_ACO2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SREBF2_ACO2 | Fusion gene ID: 35940 | Hgene | Tgene | Gene symbol | SREBF2 | ACO2 | Gene ID | 6721 | 50 |
| Gene name | sterol regulatory element binding transcription factor 2 | aconitase 2 | |
| Synonyms | SREBP-2|SREBP2|bHLHd2 | ACONM|HEL-S-284|ICRD|OCA8|OPA9 | |
| Cytomap | 22q13.2 | 22q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sterol regulatory element-binding protein 2class D basic helix-loop-helix protein 2 | aconitate hydratase, mitochondrialaconitase 2, mitochondrialcitrate hydro-lyaseepididymis secretory sperm binding protein Li 284mitochondrial aconitase | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q12772 | Q99798 | |
| Ensembl transtripts involved in fusion gene | ENST00000361204, ENST00000491541, | ENST00000216254, ENST00000396512, ENST00000466237, | |
| Fusion gene scores | * DoF score | 19 X 18 X 5=1710 | 11 X 9 X 6=594 |
| # samples | 21 | 12 | |
| ** MAII score | log2(21/1710*10)=-3.02553509210714 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/594*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SREBF2 [Title/Abstract] AND ACO2 [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 | SREBF2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15358760|19098903 |
| Hgene | SREBF2 | GO:0010886 | positive regulation of cholesterol storage | 15358760 |
| Hgene | SREBF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12242332|12446768 |
| Hgene | SREBF2 | GO:0072368 | regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter | 15358760 |
| Hgene | SREBF2 | GO:0090370 | negative regulation of cholesterol efflux | 15358760 |
| Tgene | ACO2 | GO:0006099 | tricarboxylic acid cycle | 9630632 |
| Tgene | ACO2 | GO:0006101 | citrate metabolic process | 9630632 |
| 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 | RV | BRCA | TCGA-BH-A0HY-01A | SREBF2 | chr22 | 42229362 | + | ACO2 | chr22 | 41918834 | + |
| * 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 | ENST00000361204 | ENST00000216254 | SREBF2 | chr22 | 42229362 | + | ACO2 | chr22 | 41918834 | + |
| In-frame | ENST00000361204 | ENST00000396512 | SREBF2 | chr22 | 42229362 | + | ACO2 | chr22 | 41918834 | + |
| 5CDS-intron | ENST00000361204 | ENST00000466237 | SREBF2 | chr22 | 42229362 | + | ACO2 | chr22 | 41918834 | + |
| intron-3CDS | ENST00000491541 | ENST00000216254 | SREBF2 | chr22 | 42229362 | + | ACO2 | chr22 | 41918834 | + |
| intron-3CDS | ENST00000491541 | ENST00000396512 | SREBF2 | chr22 | 42229362 | + | ACO2 | chr22 | 41918834 | + |
| intron-intron | ENST00000491541 | ENST00000466237 | SREBF2 | chr22 | 42229362 | + | ACO2 | chr22 | 41918834 | + |
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FusionProtFeatures for SREBF2_ACO2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SREBF2 | ACO2 |