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Fusion gene ID: 22906 |
FusionGeneSummary for MVB12B_TRPS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MVB12B_TRPS1 | Fusion gene ID: 22906 | Hgene | Tgene | Gene symbol | MVB12B | TRPS1 | Gene ID | 89853 | 7227 |
| Gene name | multivesicular body subunit 12B | transcriptional repressor GATA binding 1 | |
| Synonyms | C9orf28|FAM125B | GC79|LGCR | |
| Cytomap | 9q33.3 | 8q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | multivesicular body subunit 12BESCRT-I complex subunit MVB12Bfamily with sequence similarity 125, member B | zinc finger transcription factor Trps1tricho-rhino-phalangeal syndrome type I proteintrichorhinophalangeal syndrome Izinc finger protein GC79 | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q9H7P6 | Q9UHF7 | |
| Ensembl transtripts involved in fusion gene | ENST00000545391, ENST00000361171, ENST00000436593, ENST00000535766, ENST00000485886, | ENST00000395715, ENST00000220888, ENST00000519076, ENST00000520276, ENST00000519674, | |
| Fusion gene scores | * DoF score | 7 X 8 X 3=168 | 4 X 4 X 1=16 |
| # samples | 10 | 6 | |
| ** MAII score | log2(10/168*10)=-0.748461233004036 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/16*10)=1.90689059560852 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MVB12B [Title/Abstract] AND TRPS1 [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 | TRPS1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12885770|21673316 |
| 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 | BF327691 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + | ||
| ChiTaRS3.1 | BF327702 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| * 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-intron | ENST00000545391 | ENST00000395715 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000545391 | ENST00000220888 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000545391 | ENST00000519076 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000545391 | ENST00000520276 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000545391 | ENST00000519674 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000361171 | ENST00000395715 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000361171 | ENST00000220888 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000361171 | ENST00000519076 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000361171 | ENST00000520276 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000361171 | ENST00000519674 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000436593 | ENST00000395715 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000436593 | ENST00000220888 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000436593 | ENST00000519076 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000436593 | ENST00000520276 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000436593 | ENST00000519674 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000535766 | ENST00000395715 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000535766 | ENST00000220888 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000535766 | ENST00000519076 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000535766 | ENST00000520276 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000535766 | ENST00000519674 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000485886 | ENST00000395715 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000485886 | ENST00000220888 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000485886 | ENST00000519076 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000485886 | ENST00000520276 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
| intron-intron | ENST00000485886 | ENST00000519674 | MVB12B | chr9 | 129189593 | + | TRPS1 | chr8 | 116587669 | + |
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FusionProtFeatures for MVB12B_TRPS1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MVB12B | TRPS1 |