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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 20041

FusionGeneSummary for LPP_MBNL1

check button Fusion gene summary
Fusion gene informationFusion gene name: LPP_MBNL1
Fusion gene ID: 20041
HgeneTgene
Gene symbol

LPP

MBNL1

Gene ID

4026

4154

Gene nameLIM domain containing preferred translocation partner in lipomamuscleblind like splicing regulator 1
Synonyms-EXP|MBNL
Cytomap

3q27.3-q28

3q25.1-q25.2

Type of geneprotein-codingprotein-coding
Descriptionlipoma-preferred partnerLIM proteinlipoma preferred partnermuscleblind-like protein 1muscleblind-liketriplet-expansion RNA-binding protein
Modification date2018051920180523
UniProtAcc

Q93052

Q9NR56

Ensembl transtripts involved in fusion geneENST00000448637, ENST00000312675, 
ENST00000543006, ENST00000471917, 
ENST00000282488, ENST00000282486, 
ENST00000355460, ENST00000493459, 
ENST00000324210, ENST00000498502, 
ENST00000545754, ENST00000357472, 
ENST00000324196, ENST00000485910, 
ENST00000463374, ENST00000492948, 
ENST00000485509, ENST00000461436, 
Fusion gene scores* DoF score29 X 22 X 11=70186 X 5 X 4=120
# samples 376
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMBNL1

GO:0008380

RNA splicing

18335541

TgeneMBNL1

GO:0043484

regulation of RNA splicing

15257297|16946708


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-09-1662-01ALPPchr3

188059507

+MBNL1chr3

152132730

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000448637ENST00000282488LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000282486LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000355460LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000493459LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000324210LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000498502LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000545754LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000357472LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000324196LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000485910LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000463374LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000492948LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000448637ENST00000485509LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-intronENST00000448637ENST00000461436LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000282488LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000282486LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000355460LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000493459LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000324210LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000498502LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000545754LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000357472LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000324196LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000485910LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000463374LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000492948LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000312675ENST00000485509LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-intronENST00000312675ENST00000461436LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000282488LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000282486LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000355460LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000493459LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000324210LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000498502LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000545754LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000357472LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000324196LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000485910LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000463374LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000492948LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-3CDSENST00000543006ENST00000485509LPPchr3

188059507

+MBNL1chr3

152132730

+
5UTR-intronENST00000543006ENST00000461436LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000282488LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000282486LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000355460LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000493459LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000324210LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000498502LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000545754LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000357472LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000324196LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000485910LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000463374LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000492948LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-3CDSENST00000471917ENST00000485509LPPchr3

188059507

+MBNL1chr3

152132730

+
intron-intronENST00000471917ENST00000461436LPPchr3

188059507

+MBNL1chr3

152132730

+

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FusionProtFeatures for LPP_MBNL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LPP

Q93052

MBNL1

Q9NR56

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for LPP_MBNL1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
LPPATP5J2, 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, TESMBNL1DHX9, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for LPP_MBNL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for LPP_MBNL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLPPC3495559Juvenile arthritis1CTD_human
TgeneMBNL1C0027125Myotonia1CTD_human
TgeneMBNL1C0036341Schizophrenia1PSYGENET