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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: 21202

FusionGeneSummary for MBNL2_GLI3

check button Fusion gene summary
Fusion gene informationFusion gene name: MBNL2_GLI3
Fusion gene ID: 21202
HgeneTgene
Gene symbol

MBNL2

GLI3

Gene ID

10150

2737

Gene namemuscleblind like splicing regulator 2GLI family zinc finger 3
SynonymsMBLL|MBLL39|PRO2032ACLS|GCPS|GLI3-190|GLI3FL|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV
Cytomap

13q32.1

7p14.1

Type of geneprotein-codingprotein-coding
Descriptionmuscleblind-like protein 2muscleblind-like 2muscleblind-like protein 1muscleblind-like protein-like 39transcriptional activator GLI3GLI-Kruppel family member GLI3glioma-associated oncogene family zinc finger 3oncogene GLI3zinc finger protein GLI3
Modification date2018052320180527
UniProtAcc

Q5VZF2

P10071

Ensembl transtripts involved in fusion geneENST00000397601, ENST00000343600, 
ENST00000345429, ENST00000376673, 
ENST00000445661, 		ENST00000395925, 
ENST00000479210, ENST00000437480, 
Fusion gene scores* DoF score7 X 6 X 5=2104 X 5 X 3=60
# samples 76
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/60*10)=0
Context

PubMed: MBNL2 [Title/Abstract] AND GLI3 [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

TgeneGLI3

GO:0000122

negative regulation of transcription by RNA polymerase II

10693759|12435627|19084012

TgeneGLI3

GO:0045892

negative regulation of transcription, DNA-templated

12435627|16254602|19084012

TgeneGLI3

GO:0045944

positive regulation of transcription by RNA polymerase II

17000779

TgeneGLI3

GO:0090090

negative regulation of canonical Wnt signaling pathway

17331723


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
TCGARVLUSCTCGA-77-A5GH-01AMBNL2chr13

98018807

+GLI3chr7

42188067

-
* 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-3CDSENST00000397601ENST00000395925MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-5UTRENST00000397601ENST00000479210MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-intronENST00000397601ENST00000437480MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-3CDSENST00000343600ENST00000395925MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-5UTRENST00000343600ENST00000479210MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-intronENST00000343600ENST00000437480MBNL2chr13

98018807

+GLI3chr7

42188067

-
Frame-shiftENST00000345429ENST00000395925MBNL2chr13

98018807

+GLI3chr7

42188067

-
5CDS-5UTRENST00000345429ENST00000479210MBNL2chr13

98018807

+GLI3chr7

42188067

-
5CDS-intronENST00000345429ENST00000437480MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-3CDSENST00000376673ENST00000395925MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-5UTRENST00000376673ENST00000479210MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-intronENST00000376673ENST00000437480MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-3CDSENST00000445661ENST00000395925MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-5UTRENST00000445661ENST00000479210MBNL2chr13

98018807

+GLI3chr7

42188067

-
intron-intronENST00000445661ENST00000437480MBNL2chr13

98018807

+GLI3chr7

42188067

-

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FusionProtFeatures for MBNL2_GLI3


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

Q5VZF2

GLI3

P10071

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}. Has a dual function as a transcriptional activator and arepressor of the sonic hedgehog (Shh) pathway, and plays a role inlimb development. The full-length GLI3 form (GLI3FL) afterphosphorylation and nuclear translocation, acts as an activator(GLI3A) while GLI3R, its C-terminally truncated form, acts as arepressor. A proper balance between the GLI3 activator and therepressor GLI3R, rather than the repressor gradient itself or theactivator/repressor ratio gradient, specifies limb digit numberand identity. In concert with TRPS1, plays a role in regulatingthe size of the zone of distal chondrocytes, in restricting thezone of PTHLH expression in distal cells and in activatingchondrocyte proliferation. Binds to the minimal GLI-consensussequence 5'-GGGTGGTC-3'. {ECO:0000269|PubMed:10693759,ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:17764085}.

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_GLI3


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_GLI3


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, HNRNPLLGLI3CREBBP, SUFU, ZIC1, ZIC2, ZIC3, STK36, SAP18, MED12, BTRC, SKI, HDAC1, PRKCA, CSNK1A1, GSK3A, SOX2, FBXW11, KRAS, SMAD1, USP7, SPOP, RHOU, CELA1, THSD4, RCCD1, CEP44, KLHL7


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_GLI3


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_GLI3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGLI3C0265306Greig cephalopolysyndactyly syndrome8CTD_human;ORPHANET;UNIPROT
TgeneGLI3C0265220Pallister-Hall syndrome2CTD_human;ORPHANET
TgeneGLI3C0027794Neural Tube Defects1CTD_human
TgeneGLI3C0038356Stomach Neoplasms1CTD_human
TgeneGLI3C0152427Polydactyly1CTD_human
TgeneGLI3C0162835Hypopigmentation disorder1CTD_human
TgeneGLI3C3887487Postaxial polydactyly type A1UNIPROT