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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PLSCR1-MBNL1 (FusionGDB2 ID:66062)

Fusion Gene Summary for PLSCR1-MBNL1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLSCR1-MBNL1
Fusion gene ID: 66062
HgeneTgene
Gene symbol

PLSCR1

MBNL1

Gene ID

5359

4154

Gene namephospholipid scramblase 1muscleblind like splicing regulator 1
SynonymsMMTRA1BEXP|MBNL
Cytomap

3q24

3q25.1-q25.2

Type of geneprotein-codingprotein-coding
Descriptionphospholipid scramblase 1PL scramblase 1ca(2+)-dependent phospholipid scramblase 1erythrocyte phospholipid scramblasemuscleblind-like protein 1muscleblind-liketriplet-expansion RNA-binding protein
Modification date2020031320200327
UniProtAcc.

Q9NR56

Ensembl transtripts involved in fusion geneENST00000342435, ENST00000448205, 
ENST00000487389, ENST00000448787, 
ENST00000484560, 		ENST00000282488, 
ENST00000282486, ENST00000355460, 
ENST00000493459, ENST00000324210, 
ENST00000498502, ENST00000545754, 
ENST00000357472, ENST00000324196, 
ENST00000485910, ENST00000463374, 
ENST00000492948, ENST00000485509, 
ENST00000461436, 
Fusion gene scores* DoF score5 X 5 X 3=7528 X 14 X 6=2352
# samples 628
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(28/2352*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLSCR1 [Title/Abstract] AND MBNL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPLSCR1(146262254)-MBNL1(152132730), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgenePLSCR1

GO:0006915

apoptotic process

10770950

HgenePLSCR1

GO:0017121

phospholipid scrambling

9218461|10770950|18629440

HgenePLSCR1

GO:0045944

positive regulation of transcription by RNA polymerase II

16091359

HgenePLSCR1

GO:2000373

positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity

17567603

TgeneMBNL1

GO:0008380

RNA splicing

18335541

TgeneMBNL1

GO:0043484

regulation of RNA splicing

15257297|16946708


check buttonFusion gene breakpoints across PLSCR1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MBNL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-HU-A4GJ-01APLSCR1chr3

146262254

-MBNL1chr3

152132730

+


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Fusion Gene ORF analysis for PLSCR1-MBNL1

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-3CDSENST00000342435ENST00000282488PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000282486PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000355460PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000493459PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000324210PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000498502PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000545754PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000357472PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000324196PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000485910PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000463374PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000492948PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000342435ENST00000485509PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-intronENST00000342435ENST00000461436PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000282488PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000282486PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000355460PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000493459PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000324210PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000498502PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000545754PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000357472PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000324196PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000485910PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000463374PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000492948PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448205ENST00000485509PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-intronENST00000448205ENST00000461436PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000282488PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000282486PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000355460PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000493459PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000324210PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000498502PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000545754PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000357472PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000324196PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000485910PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000463374PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000492948PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000487389ENST00000485509PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-intronENST00000487389ENST00000461436PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000282488PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000282486PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000355460PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000493459PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000324210PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000498502PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000545754PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000357472PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000324196PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000485910PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000463374PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000492948PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-3CDSENST00000448787ENST00000485509PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
5UTR-intronENST00000448787ENST00000461436PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000282488PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000282486PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000355460PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000493459PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000324210PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000498502PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000545754PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000357472PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000324196PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000485910PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000463374PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000492948PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-3CDSENST00000484560ENST00000485509PLSCR1chr3

146262254

-MBNL1chr3

152132730

+
intron-intronENST00000484560ENST00000461436PLSCR1chr3

146262254

-MBNL1chr3

152132730

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PLSCR1-MBNL1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PLSCR1chr3146262253-MBNL1chr3152132729+0.0004514990.9995485
PLSCR1chr3146262253-MBNL1chr3152132729+0.0004514990.9995485

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PLSCR1-MBNL1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MBNL1

Q9NR56

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base 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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Fusion Gene Sequence for PLSCR1-MBNL1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PLSCR1-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


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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Related Drugs for PLSCR1-MBNL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PLSCR1-MBNL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLSCR1C0021400Influenza1CTD_human
HgenePLSCR1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMBNL1C3250443MYOTONIC DYSTROPHY 12UNIPROT
TgeneMBNL1C0027125Myotonia1CTD_human
TgeneMBNL1C0036341Schizophrenia1PSYGENET
TgeneMBNL1C0751358Myotonic Phenomenon1CTD_human
TgeneMBNL1C0751359Percussion Myotonia1CTD_human
TgeneMBNL1C2931456Prostate cancer, familial1CTD_human
TgeneMBNL1C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human