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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 |
| Component of the ESCRT-I complex, a regulator ofvesicular trafficking process. Required for the sorting ofendocytic ubiquitinated cargos into multivesicular bodies. | Transcriptional repressor. Binds specifically to GATAsequences and represses expression of GATA-regulated genes atselected sites and stages in vertebrate development. Regulateschondrocyte proliferation and differentiation. Executes multiplefunctions in proliferating chondrocytes, expanding the region ofdistal chondrocytes, activating proliferation in columnar cellsand supporting the differentiation of columnar into hypertrophicchondrocytes. {ECO:0000269|PubMed:12885770,ECO:0000269|PubMed:17391059}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MVB12B_TRPS1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MVB12B_TRPS1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MVB12B_TRPS1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MVB12B_TRPS1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TRPS1 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Tgene | TRPS1 | C1860823 | Trichorhinophalangeal Syndrome, Type III | 2 | CTD_human;UNIPROT |
| Tgene | TRPS1 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| Tgene | TRPS1 | C0023003 | Langer-Giedion Syndrome | 1 | CTD_human;ORPHANET |
| Tgene | TRPS1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | TRPS1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| Tgene | TRPS1 | C0432233 | Trichorhinophalangeal dysplasia type I | 1 | CTD_human;UNIPROT |
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