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Fusion gene ID: 3834 |
FusionGeneSummary for BAP1_RILP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BAP1_RILP | Fusion gene ID: 3834 | Hgene | Tgene | Gene symbol | BAP1 | RILP | Gene ID | 9223 | 144165 |
| Gene name | membrane associated guanylate kinase, WW and PDZ domain containing 1 | prickle planar cell polarity protein 1 | |
| Synonyms | AIP-3|AIP3|BAIAP1|BAP-1|BAP1|MAGI-1|Magi1d|TNRC19|WWP3 | EPM1B|RILP | |
| Cytomap | 3p14.1 | 12q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1BAI1-associated protein 1WW domain-containing protein 3atrophin-1-interacting protein 3membrane-associated guanylate kinase inverted 1trinucleotide repeat-containing gene 19 | prickle-like protein 1REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain proteinREST/NRSF interacting LIM domain proteinREST/NRSF-interacting LIM domain protein 1prickle homolog 1prickle-like 1 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q92560 | Q96NA2 | |
| Ensembl transtripts involved in fusion gene | ENST00000460680, ENST00000296288, | ENST00000301336, | |
| Fusion gene scores | * DoF score | 8 X 8 X 5=320 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/320*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: BAP1 [Title/Abstract] AND RILP [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 | RILP | GO:0006606 | protein import into nucleus | 21199191 |
| Tgene | RILP | GO:0031398 | positive regulation of protein ubiquitination | 17030191 |
| Tgene | RILP | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 17030191 |
| Tgene | RILP | GO:0045892 | negative regulation of transcription, DNA-templated | 17030191 |
| Tgene | RILP | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 17030191 |
| Tgene | RILP | GO:2000691 | negative regulation of cardiac muscle cell myoblast differentiation | 21199191 |
| 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 | MESO | TCGA-SH-A7BD-01A | BAP1 | chr3 | 52443570 | - | RILP | chr17 | 1551789 | - |
| * 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 |
| Frame-shift | ENST00000460680 | ENST00000301336 | BAP1 | chr3 | 52443570 | - | RILP | chr17 | 1551789 | - |
| Frame-shift | ENST00000296288 | ENST00000301336 | BAP1 | chr3 | 52443570 | - | RILP | chr17 | 1551789 | - |
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FusionProtFeatures for BAP1_RILP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BAP1 | RILP |
| Deubiquitinating enzyme that plays a key role inchromatin by mediating deubiquitination of histone H2A and HCFC1.Catalytic component of the PR-DUB complex, a complex thatspecifically mediates deubiquitination of histone H2Amonoubiquitinated at 'Lys-119' (H2AK119ub1). Does notdeubiquitinate monoubiquitinated histone H2B. Acts as a regulatorof cell growth by mediating deubiquitination of HCFC1 N-terminaland C-terminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linkedpolyubiquitin chains. Deubiquitination of HCFC1 does not lead toincrease stability of HCFC1. Interferes with the BRCA1 and BARD1heterodimer activity by inhibiting their ability to mediateubiquitination and autoubiquitination. It however does not mediatedeubiquitination of BRCA1 and BARD1. Able to mediateautodeubiquitination via intramolecular interactions to couteractmonoubiquitination at the nuclear localization signal (NLS),thereby protecting it from cytoplasmic sequestration(PubMed:24703950). Acts as a tumor suppressor.{ECO:0000269|PubMed:12485996, ECO:0000269|PubMed:18757409,ECO:0000269|PubMed:19117993, ECO:0000269|PubMed:19188440,ECO:0000269|PubMed:19815555, ECO:0000269|PubMed:20436459,ECO:0000269|PubMed:24703950, ECO:0000269|PubMed:9528852}. | Rab effector playing a role in late endocytic transportto degradative compartments. Involved in the regulation oflysosomal morphology and distribution. Induces recruitment ofdynein-dynactin motor complexes to Rab7A-containing late endosomeand lysosome compartments. Promotes centripetal migration ofphagosomes and the fusion of phagosomes with the late endosomesand lysosomes. {ECO:0000269|PubMed:11179213,ECO:0000269|PubMed:11696325, ECO:0000269|PubMed:12944476,ECO:0000269|PubMed:14668488}. |
| 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 BAP1_RILP |
| 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 BAP1_RILP |
| 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 |
| BAP1 | HCFC1, FOXK2, IPO5, PPM1G, RBBP7, OGT, HAT1, EIF4EBP3, PSME3, CBX1, CBX3, AHCYL2, ANKRD17, ANAPC7, ASXL2, UBE2O, IPO4, ASXL1, KDM1B, FOXK1, HSPA2, PTEN, HIST2H2AC, ZC3H13, PRDM10, HSPA9, ZNF131, HSPA1A, EFNA2, ELF2, YY1, BRCA1, TRIM63, USP21, USP15, USP28, USP2, HIST2H2AA3, INO80, UBC, MAP3K1, BAG4, BCAR3, CASP8, ESR1, IGF1R, NBN, PTPRJ, RB1CC1, XRCC3, SMS, TSNAX, KIAA1107, ENTHD2, MCRS1, ASXL3, HIST1H2AB, KLF5, GOPC, CAMK2D, LINC00598 | RILP | RAB7A, VPS36, SNF8, RAB7B, KPNA2, RCHY1, LDB2, VPS11, VPS16, VPS18, VPS39, VPS41 |
| - 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 BAP1_RILP |
| 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 BAP1_RILP |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BAP1 | C0007134 | Renal Cell Carcinoma | 4 | CTD_human |
| Hgene | BAP1 | C0025500 | Mesothelioma | 4 | CTD_human |
| Hgene | BAP1 | C0345967 | Malignant mesothelioma | 4 | CTD_human |
| Hgene | BAP1 | C0220633 | Uveal melanoma | 3 | CTD_human;HPO |
| Hgene | BAP1 | C0038356 | Stomach Neoplasms | 2 | CTD_human |
| Hgene | BAP1 | C0151779 | Cutaneous Melanoma | 2 | CTD_human |
| Hgene | BAP1 | C0206698 | Cholangiocarcinoma | 2 | CTD_human |
| Hgene | BAP1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| Hgene | BAP1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | BAP1 | C0005967 | Bone neoplasms | 1 | CTD_human |
| Hgene | BAP1 | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| Hgene | BAP1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Hgene | BAP1 | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
| Hgene | BAP1 | C0022665 | Kidney Neoplasm | 1 | CTD_human |
| Hgene | BAP1 | C0023418 | leukemia | 1 | CTD_human |
| Hgene | BAP1 | C0023798 | Lipoma | 1 | CTD_human |
| Hgene | BAP1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | BAP1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | BAP1 | C0025286 | Meningioma | 1 | CTD_human;HPO |
| Hgene | BAP1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Hgene | BAP1 | C0030421 | Paraganglioma | 1 | CTD_human |
| Hgene | BAP1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | BAP1 | C0039590 | Testicular Neoplasms | 1 | CTD_human |
| Hgene | BAP1 | C0040100 | Thymoma | 1 | CTD_human |
| Hgene | BAP1 | C0042138 | Uterine Neoplasms | 1 | CTD_human |
| Hgene | BAP1 | C0085136 | Central Nervous System Neoplasms | 1 | CTD_human |
| Hgene | BAP1 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human;HPO |
| Hgene | BAP1 | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Hgene | BAP1 | C0206694 | Mucoepidermoid Carcinoma | 1 | CTD_human |
| Hgene | BAP1 | C0206739 | Epithelioid and spindle cell nevus | 1 | CTD_human |
| Hgene | BAP1 | C0206754 | Neuroendocrine Tumors | 1 | CTD_human |
| Hgene | BAP1 | C0206769 | Nevi and Melanomas | 1 | CTD_human |
| Hgene | BAP1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Hgene | BAP1 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
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