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Fusion gene ID: 20041 |
FusionGeneSummary for LPP_MBNL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LPP_MBNL1 | Fusion gene ID: 20041 | Hgene | Tgene | Gene symbol | LPP | MBNL1 | Gene ID | 4026 | 4154 |
| Gene name | LIM domain containing preferred translocation partner in lipoma | muscleblind like splicing regulator 1 | |
| Synonyms | - | EXP|MBNL | |
| Cytomap | 3q27.3-q28 | 3q25.1-q25.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lipoma-preferred partnerLIM proteinlipoma preferred partner | muscleblind-like protein 1muscleblind-liketriplet-expansion RNA-binding protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q93052 | Q9NR56 | |
| Ensembl transtripts involved in fusion gene | ENST00000448637, ENST00000312675, ENST00000543006, ENST00000471917, | ENST00000282488, ENST00000282486, ENST00000355460, ENST00000493459, ENST00000324210, ENST00000498502, ENST00000545754, ENST00000357472, ENST00000324196, ENST00000485910, ENST00000463374, ENST00000492948, ENST00000485509, ENST00000461436, | |
| Fusion gene scores | * DoF score | 29 X 22 X 11=7018 | 6 X 5 X 4=120 |
| # samples | 37 | 6 | |
| ** MAII score | log2(37/7018*10)=-4.24546277188585 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LPP [Title/Abstract] AND MBNL1 [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 | MBNL1 | GO:0008380 | RNA splicing | 18335541 |
| Tgene | MBNL1 | GO:0043484 | regulation of RNA splicing | 15257297|16946708 |
| 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 | OV | TCGA-09-1662-01A | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| * 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 |
| 5UTR-3CDS | ENST00000448637 | ENST00000282488 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000282486 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000355460 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000493459 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000324210 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000498502 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000545754 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000357472 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000324196 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000485910 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000463374 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000492948 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000448637 | ENST00000485509 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-intron | ENST00000448637 | ENST00000461436 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000282488 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000282486 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000355460 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000493459 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000324210 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000498502 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000545754 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000357472 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000324196 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000485910 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000463374 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000492948 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000312675 | ENST00000485509 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-intron | ENST00000312675 | ENST00000461436 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000282488 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000282486 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000355460 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000493459 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000324210 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000498502 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000545754 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000357472 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000324196 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000485910 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000463374 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000492948 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-3CDS | ENST00000543006 | ENST00000485509 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| 5UTR-intron | ENST00000543006 | ENST00000461436 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000282488 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000282486 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000355460 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000493459 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000324210 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000498502 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000545754 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000357472 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000324196 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000485910 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000463374 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000492948 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-3CDS | ENST00000471917 | ENST00000485509 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
| intron-intron | ENST00000471917 | ENST00000461436 | LPP | chr3 | 188059507 | + | MBNL1 | chr3 | 152132730 | + |
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FusionProtFeatures for LPP_MBNL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LPP | MBNL1 |
| May play a structural role at sites of cell adhesion inmaintaining cell shape and motility. In addition to thesestructural functions, it may also be implicated in signalingevents and activation of gene transcription. May be involved insignal transduction from cell adhesion sites to the nucleusallowing successful integration of signals arising from solublefactors and cell-cell adhesion sites. Also suggested to serve as ascaffold protein upon which distinct protein complexes areassembled in the cytoplasm and in the nucleus.{ECO:0000269|PubMed:10637295, ECO:0000269|Ref.2}. | Mediates pre-mRNA alternative splicing regulation. Actseither as activator or repressor of splicing on specific pre-mRNAtargets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exoninclusion but induces insulin receptor (IR) pre-mRNA exoninclusion in muscle. Antagonizes the alternative splicing activitypattern of CELF proteins. Regulates the TNNT2 exon 5 skippingthrough competition with U2AF2. Inhibits the formation of thespliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to thestem-loop structure within the polypyrimidine tract of TNNT2intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUGrepeat RNA, which folds into a hairpin structure containing GCbase pairs and bulged, unpaired U residues.{ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:15257297,ECO:0000269|PubMed:16946708, ECO:0000269|PubMed:18335541,ECO:0000269|PubMed:19470458}. |
| 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 LPP_MBNL1 |
| 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 LPP_MBNL1 |
| 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 |
| LPP | ATP5J2, PPP2R1A, ELAVL1, EGLN2, VHL, CLNS1A, PNPO, HNRNPL, CPT1A, HSPA5, AGFG1, ALAD, ARPC3, ARPC4, CALR, DBNL, HSPBP1, IPO11, P3H1, DPP9, EFTUD1, FEN1, FKBP10, RPRD1B, SAE1, SURF2, UFM1, NIF3L1, NPLOC4, OGT, PPME1, PPP2R5D, RANGAP1, RDX, SH3GLB1, TPRKB, UBE3A, ZPR1, SUZ12, RNF2, COPS5, GMPPA, PICALM, NINL, XPO1, CDH1, PTPN21, PPP2R3A, WDYHV1, SERPINB2, PDLIM7, LPXN, CBLC, MRPL38, WASF3, MTNR1A, G3BP1, TES | MBNL1 | DHX9, DDX5, DDX17, HNRNPH1, HNRNPH2, HNRNPH3, HNRNPF, HNRNPA2B1, HNRNPL, HNRNPK, ITSN2, BIN1, APP, TIAL1, FN1, VCAM1, ITGA4, IDH3A, ZNHIT3, ABI3BP, AES, DAB1, AEN, MBNL2, MBNL3, RBFOX2, SSBP4, DAP3, RFWD3, ROPN1, IARS2, ZNF143, IRF2BP1 |
| - 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 LPP_MBNL1 |
| 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 LPP_MBNL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LPP | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | MBNL1 | C0027125 | Myotonia | 1 | CTD_human |
| Tgene | MBNL1 | C0036341 | Schizophrenia | 1 | PSYGENET |
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