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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: 21207

FusionGeneSummary for MBNL2_PLP1

check button Fusion gene summary
Fusion gene informationFusion gene name: MBNL2_PLP1
Fusion gene ID: 21207
HgeneTgene
Gene symbol

MBNL2

PLP1

Gene ID

10150

5354

Gene namemuscleblind like splicing regulator 2proteolipid protein 1
SynonymsMBLL|MBLL39|PRO2032GPM6C|HLD1|MMPL|PLP|PLP/DM20|PMD|SPG2
Cytomap

13q32.1

Xq22.2

Type of geneprotein-codingprotein-coding
Descriptionmuscleblind-like protein 2muscleblind-like 2muscleblind-like protein 1muscleblind-like protein-like 39myelin proteolipid proteinlipophilinmajor myelin proteolipid protein
Modification date2018052320180523
UniProtAcc

Q5VZF2

P60201

Ensembl transtripts involved in fusion geneENST00000397601, ENST00000343600, 
ENST00000345429, ENST00000376673, 
ENST00000445661, 
ENST00000418604, 
ENST00000303958, ENST00000361621, 
ENST00000466486, 
Fusion gene scores* DoF score7 X 6 X 5=2109 X 8 X 2=144
# samples 79
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/144*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBNL2 [Title/Abstract] AND PLP1 [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
ChiTaRS3.1DB171847MBNL2chr13

97882117

+PLP1chrX

103031802

+
* 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-5UTRENST00000397601ENST00000418604MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000397601ENST00000303958MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000397601ENST00000361621MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-intronENST00000397601ENST00000466486MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000343600ENST00000418604MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000343600ENST00000303958MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000343600ENST00000361621MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-intronENST00000343600ENST00000466486MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000345429ENST00000418604MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000345429ENST00000303958MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000345429ENST00000361621MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-intronENST00000345429ENST00000466486MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000376673ENST00000418604MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000376673ENST00000303958MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000376673ENST00000361621MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-intronENST00000376673ENST00000466486MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000445661ENST00000418604MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000445661ENST00000303958MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-5UTRENST00000445661ENST00000361621MBNL2chr13

97882117

+PLP1chrX

103031802

+
intron-intronENST00000445661ENST00000466486MBNL2chr13

97882117

+PLP1chrX

103031802

+

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FusionProtFeatures for MBNL2_PLP1


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

Q5VZF2

PLP1

P60201

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}. This is the major myelin protein from the centralnervous system. It plays an important role in the formation ormaintenance of the multilamellar structure of myelin.

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_PLP1


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_PLP1


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


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_PLP1


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_PLP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePLP1C0205711Pelizaeus-Merzbacher Disease31CTD_human;HPO;UNIPROT
TgenePLP1C1839264SPASTIC PARAPLEGIA 2, X-LINKED (disorder)9CTD_human;ORPHANET;UNIPROT
TgenePLP1C0036341Schizophrenia4PSYGENET
TgenePLP1C0009171Cocaine Abuse2PSYGENET
TgenePLP1C2673482Increased susceptibility to schizophrenia1PSYGENET