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Fusion gene ID: 27336 |
FusionGeneSummary for PITPNM2_UBE3B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PITPNM2_UBE3B | Fusion gene ID: 27336 | Hgene | Tgene | Gene symbol | PITPNM2 | UBE3B | Gene ID | 57605 | 89910 |
| Gene name | phosphatidylinositol transfer protein membrane associated 2 | ubiquitin protein ligase E3B | |
| Synonyms | NIR-3|NIR3|RDGB2|RDGBA2 | BPIDS|KOS | |
| Cytomap | 12q24.31 | 12q24.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | membrane-associated phosphatidylinositol transfer protein 2PYK2 N-terminal domain-interacting receptor 3retinal degeneration B alpha 2 | ubiquitin-protein ligase E3BHECT-type ubiquitin transferase E3B | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9BZ72 | Q7Z3V4 | |
| Ensembl transtripts involved in fusion gene | ENST00000320201, ENST00000392428, ENST00000280562, ENST00000542749, ENST00000546049, ENST00000451868, | ENST00000434735, ENST00000342494, ENST00000535089, ENST00000280774, ENST00000536398, ENST00000340074, ENST00000540230, ENST00000537063, ENST00000535900, | |
| Fusion gene scores | * DoF score | 9 X 8 X 7=504 | 3 X 3 X 3=27 |
| # samples | 9 | 3 | |
| ** MAII score | log2(9/504*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PITPNM2 [Title/Abstract] AND UBE3B [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 | PITPNM2 | GO:0048015 | phosphatidylinositol-mediated signaling | 10022914 |
| 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-TS-A7P7-01A | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| * 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 | ENST00000320201 | ENST00000434735 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| Frame-shift | ENST00000320201 | ENST00000342494 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000320201 | ENST00000535089 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000320201 | ENST00000280774 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000320201 | ENST00000536398 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000320201 | ENST00000340074 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000320201 | ENST00000540230 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000320201 | ENST00000537063 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000320201 | ENST00000535900 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| Frame-shift | ENST00000392428 | ENST00000434735 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| Frame-shift | ENST00000392428 | ENST00000342494 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000392428 | ENST00000535089 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000392428 | ENST00000280774 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000392428 | ENST00000536398 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000392428 | ENST00000340074 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000392428 | ENST00000540230 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000392428 | ENST00000537063 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000392428 | ENST00000535900 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| Frame-shift | ENST00000280562 | ENST00000434735 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| Frame-shift | ENST00000280562 | ENST00000342494 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000280562 | ENST00000535089 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000280562 | ENST00000280774 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000280562 | ENST00000536398 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000280562 | ENST00000340074 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000280562 | ENST00000540230 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000280562 | ENST00000537063 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000280562 | ENST00000535900 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| Frame-shift | ENST00000542749 | ENST00000434735 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| Frame-shift | ENST00000542749 | ENST00000342494 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000542749 | ENST00000535089 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000542749 | ENST00000280774 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000542749 | ENST00000536398 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000542749 | ENST00000340074 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000542749 | ENST00000540230 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000542749 | ENST00000537063 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000542749 | ENST00000535900 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| Frame-shift | ENST00000546049 | ENST00000434735 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| Frame-shift | ENST00000546049 | ENST00000342494 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000546049 | ENST00000535089 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000546049 | ENST00000280774 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000546049 | ENST00000536398 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000546049 | ENST00000340074 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000546049 | ENST00000540230 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000546049 | ENST00000537063 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5CDS-intron | ENST00000546049 | ENST00000535900 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5UTR-3CDS | ENST00000451868 | ENST00000434735 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5UTR-3CDS | ENST00000451868 | ENST00000342494 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5UTR-intron | ENST00000451868 | ENST00000535089 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5UTR-intron | ENST00000451868 | ENST00000280774 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5UTR-intron | ENST00000451868 | ENST00000536398 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5UTR-intron | ENST00000451868 | ENST00000340074 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5UTR-intron | ENST00000451868 | ENST00000540230 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5UTR-intron | ENST00000451868 | ENST00000537063 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
| 5UTR-intron | ENST00000451868 | ENST00000535900 | PITPNM2 | chr12 | 123519060 | - | UBE3B | chr12 | 109935623 | + |
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FusionProtFeatures for PITPNM2_UBE3B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PITPNM2 | UBE3B |
| Catalyzes the transfer of phosphatidylinositol andphosphatidylcholine between membranes (in vitro). Binds calciumions. {ECO:0000269|PubMed:10022914}. | E3 ubiquitin-protein ligase which accepts ubiquitin froman E2 ubiquitin-conjugating enzyme in the form of a thioester andthen directly transfers the ubiquitin to targeted substrates.{ECO:0000250}. |
| 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 PITPNM2_UBE3B |
| 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 PITPNM2_UBE3B |
| 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 |
| PITPNM2 | PTK2B, VAPB, XPO1, VAPA | UBE3B | IQCB1, SHFM1, DLK1, IFI30, CBS, POLR2A, KRAS, UBE3B, CALM3, RAC1 |
| - 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 PITPNM2_UBE3B |
| 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 PITPNM2_UBE3B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | UBE3B | C1855663 | Kaufman oculocerebrofacial syndrome | 1 | ORPHANET;UNIPROT |
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