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Fusion gene ID: 41486 |
FusionGeneSummary for VMP1_BRCA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VMP1_BRCA1 | Fusion gene ID: 41486 | Hgene | Tgene | Gene symbol | VMP1 | BRCA1 | Gene ID | 81671 | 672 |
| Gene name | vacuole membrane protein 1 | BRCA1, DNA repair associated | |
| Synonyms | EPG3|TANGO5|TMEM49 | BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53 | |
| Cytomap | 17q23.1 | 17q21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vacuole membrane protein 1ectopic P-granules autophagy protein 3 homologtransmembrane protein 49transport and golgi organization 5 homolog | breast cancer type 1 susceptibility proteinBRCA1/BRCA2-containing complex, subunit 1Fanconi anemia, complementation group SRING finger protein 53breast and ovarian cancer susceptibility protein 1breast cancer 1, early onsetearly onset breast cancer | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q96GC9 | P38398 | |
| Ensembl transtripts involved in fusion gene | ENST00000262291, ENST00000537567, ENST00000539763, ENST00000536180, ENST00000545362, ENST00000588617, | ENST00000357654, ENST00000351666, ENST00000309486, ENST00000346315, ENST00000354071, ENST00000352993, ENST00000468300, ENST00000591534, ENST00000591849, ENST00000586385, ENST00000493795, ENST00000471181, ENST00000491747, | |
| Fusion gene scores | * DoF score | 19 X 10 X 9=1710 | 4 X 5 X 4=80 |
| # samples | 18 | 4 | |
| ** MAII score | log2(18/1710*10)=-3.24792751344359 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/80*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: VMP1 [Title/Abstract] AND BRCA1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | BRCA1 | GO:0000724 | double-strand break repair via homologous recombination | 17349954 |
| Tgene | BRCA1 | GO:0006301 | postreplication repair | 17349954 |
| Tgene | BRCA1 | GO:0006302 | double-strand break repair | 22186889 |
| Tgene | BRCA1 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 14654789 |
| Tgene | BRCA1 | GO:0016567 | protein ubiquitination | 17349954 |
| Tgene | BRCA1 | GO:0031398 | positive regulation of protein ubiquitination | 15965487 |
| Tgene | BRCA1 | GO:0035066 | positive regulation of histone acetylation | 20820192 |
| Tgene | BRCA1 | GO:0043627 | response to estrogen | 8895509 |
| Tgene | BRCA1 | GO:0045892 | negative regulation of transcription, DNA-templated | 16288014 |
| Tgene | BRCA1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20160719 |
| Tgene | BRCA1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16331276 |
| Tgene | BRCA1 | GO:0051571 | positive regulation of histone H3-K4 methylation | 20820192 |
| Tgene | BRCA1 | GO:0051573 | negative regulation of histone H3-K9 methylation | 20820192 |
| Tgene | BRCA1 | GO:0051865 | protein autoubiquitination | 12890688|20351172 |
| Tgene | BRCA1 | GO:0070512 | positive regulation of histone H4-K20 methylation | 20820192 |
| Tgene | BRCA1 | GO:0071158 | positive regulation of cell cycle arrest | 21102443 |
| Tgene | BRCA1 | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
| Tgene | BRCA1 | GO:0085020 | protein K6-linked ubiquitination | 12890688|20351172 |
| Tgene | BRCA1 | GO:2000617 | positive regulation of histone H3-K9 acetylation | 20820192 |
| Tgene | BRCA1 | GO:2000620 | positive regulation of histone H4-K16 acetylation | 20820192 |
| 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-KF-A41W-01A | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| * 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 | ENST00000262291 | ENST00000357654 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000262291 | ENST00000351666 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000262291 | ENST00000309486 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000262291 | ENST00000346315 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000262291 | ENST00000354071 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000262291 | ENST00000352993 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000262291 | ENST00000468300 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000262291 | ENST00000591534 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000262291 | ENST00000591849 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000262291 | ENST00000586385 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000262291 | ENST00000493795 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000262291 | ENST00000471181 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000262291 | ENST00000491747 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000537567 | ENST00000357654 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000537567 | ENST00000351666 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000537567 | ENST00000309486 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000537567 | ENST00000346315 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000537567 | ENST00000354071 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000537567 | ENST00000352993 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000537567 | ENST00000468300 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000537567 | ENST00000591534 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000537567 | ENST00000591849 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000537567 | ENST00000586385 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000537567 | ENST00000493795 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000537567 | ENST00000471181 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000537567 | ENST00000491747 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000539763 | ENST00000357654 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000539763 | ENST00000351666 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000539763 | ENST00000309486 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000539763 | ENST00000346315 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000539763 | ENST00000354071 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000539763 | ENST00000352993 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000539763 | ENST00000468300 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000539763 | ENST00000591534 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000539763 | ENST00000591849 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000539763 | ENST00000586385 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000539763 | ENST00000493795 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000539763 | ENST00000471181 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000539763 | ENST00000491747 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000536180 | ENST00000357654 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000536180 | ENST00000351666 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000536180 | ENST00000309486 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000536180 | ENST00000346315 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000536180 | ENST00000354071 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000536180 | ENST00000352993 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000536180 | ENST00000468300 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000536180 | ENST00000591534 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000536180 | ENST00000591849 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000536180 | ENST00000586385 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000536180 | ENST00000493795 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000536180 | ENST00000471181 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000536180 | ENST00000491747 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000545362 | ENST00000357654 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000545362 | ENST00000351666 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000545362 | ENST00000309486 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000545362 | ENST00000346315 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000545362 | ENST00000354071 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000545362 | ENST00000352993 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| In-frame | ENST00000545362 | ENST00000468300 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000545362 | ENST00000591534 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000545362 | ENST00000591849 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000545362 | ENST00000586385 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000545362 | ENST00000493795 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000545362 | ENST00000471181 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| 5CDS-intron | ENST00000545362 | ENST00000491747 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-3CDS | ENST00000588617 | ENST00000357654 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-3CDS | ENST00000588617 | ENST00000351666 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-3CDS | ENST00000588617 | ENST00000309486 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-3CDS | ENST00000588617 | ENST00000346315 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-3CDS | ENST00000588617 | ENST00000354071 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-3CDS | ENST00000588617 | ENST00000352993 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-3CDS | ENST00000588617 | ENST00000468300 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-intron | ENST00000588617 | ENST00000591534 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-intron | ENST00000588617 | ENST00000591849 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-intron | ENST00000588617 | ENST00000586385 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-intron | ENST00000588617 | ENST00000493795 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-intron | ENST00000588617 | ENST00000471181 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
| intron-intron | ENST00000588617 | ENST00000491747 | VMP1 | chr17 | 57851246 | + | BRCA1 | chr17 | 41234592 | - |
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FusionProtFeatures for VMP1_BRCA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VMP1 | BRCA1 |