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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: 21206

FusionGeneSummary for MBNL2_PLAC8

check button Fusion gene summary
Fusion gene informationFusion gene name: MBNL2_PLAC8
Fusion gene ID: 21206
HgeneTgene
Gene symbol

MBNL2

PLAC8

Gene ID

10150

51316

Gene namemuscleblind like splicing regulator 2placenta specific 8
SynonymsMBLL|MBLL39|PRO2032C15|DGIC|PNAS-144|onzin
Cytomap

13q32.1

4q21.22

Type of geneprotein-codingprotein-coding
Descriptionmuscleblind-like protein 2muscleblind-like 2muscleblind-like protein 1muscleblind-like protein-like 39placenta-specific gene 8 proteindown-regulated in gastrointestinal cancer protein
Modification date2018052320180519
UniProtAcc

Q5VZF2

Q9NZF1

Ensembl transtripts involved in fusion geneENST00000397601, ENST00000343600, 
ENST00000345429, ENST00000376673, 
ENST00000445661, 		ENST00000311507, 
ENST00000411416, ENST00000515389, 
ENST00000509973, ENST00000505406, 
ENST00000426923, 
Fusion gene scores* DoF score7 X 6 X 5=2103 X 2 X 3=18
# samples 73
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MBNL2 [Title/Abstract] AND PLAC8 [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
HgeneMBNL2

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
TCGARVBLCATCGA-GU-A767-01AMBNL2chr13

97874785

+PLAC8chr4

84026173

-
* 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
intron-3CDSENST00000397601ENST00000311507MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-3CDSENST00000397601ENST00000411416MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-intronENST00000397601ENST00000515389MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-5UTRENST00000397601ENST00000509973MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-5UTRENST00000397601ENST00000505406MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-5UTRENST00000397601ENST00000426923MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-3CDSENST00000343600ENST00000311507MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-3CDSENST00000343600ENST00000411416MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-intronENST00000343600ENST00000515389MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-5UTRENST00000343600ENST00000509973MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-5UTRENST00000343600ENST00000505406MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-5UTRENST00000343600ENST00000426923MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-3CDSENST00000345429ENST00000311507MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-3CDSENST00000345429ENST00000411416MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-intronENST00000345429ENST00000515389MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-5UTRENST00000345429ENST00000509973MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-5UTRENST00000345429ENST00000505406MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-5UTRENST00000345429ENST00000426923MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-3CDSENST00000376673ENST00000311507MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-3CDSENST00000376673ENST00000411416MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-intronENST00000376673ENST00000515389MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-5UTRENST00000376673ENST00000509973MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-5UTRENST00000376673ENST00000505406MBNL2chr13

97874785

+PLAC8chr4

84026173

-
5UTR-5UTRENST00000376673ENST00000426923MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-3CDSENST00000445661ENST00000311507MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-3CDSENST00000445661ENST00000411416MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-intronENST00000445661ENST00000515389MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-5UTRENST00000445661ENST00000509973MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-5UTRENST00000445661ENST00000505406MBNL2chr13

97874785

+PLAC8chr4

84026173

-
intron-5UTRENST00000445661ENST00000426923MBNL2chr13

97874785

+PLAC8chr4

84026173

-

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FusionProtFeatures for MBNL2_PLAC8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MBNL2

Q5VZF2

PLAC8

Q9NZF1

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. RNA-binding protein that binds to5'ACACCC-3' core sequence, termed zipcode, within the 3'UTR ofITGA3. Binds to CUG triplet repeat expansion in myotonic dystrophymuscle cells by sequestering the target RNAs. Seems to regulateexpression and localization of ITGA3 by transporting it from thenucleus to cytoplasm at adhesion plaques. May play a role inmyotonic dystrophy pathophysiology (DM).{ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16273094,ECO:0000269|PubMed:16946708}.

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 MBNL2_PLAC8


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 MBNL2_PLAC8


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
MBNL2ELAVL1, ENO1, NXF1, BMI1, MBNL1, HSD17B2, ACOX1, HNRNPLLPLAC8TRIP13, COPS5, ELAVL1, RBPMS, TP53


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 MBNL2_PLAC8


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 MBNL2_PLAC8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePLAC8C0023893Liver Cirrhosis, Experimental1CTD_human