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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: 21201

FusionGeneSummary for MBNL1_SGSM3

check button Fusion gene summary
Fusion gene informationFusion gene name: MBNL1_SGSM3
Fusion gene ID: 21201
HgeneTgene
Gene symbol

MBNL1

SGSM3

Gene ID

4154

27352

Gene namemuscleblind like splicing regulator 1small G protein signaling modulator 3
SynonymsEXP|MBNLCIP85|MAP|RABGAP5|RUSC3|RUTBC3|RabGAP-5|rabGAPLP
Cytomap

3q25.1-q25.2

22q13.1

Type of geneprotein-codingprotein-coding
Descriptionmuscleblind-like protein 1muscleblind-liketriplet-expansion RNA-binding proteinsmall G protein signaling modulator 3RUN and SH3 containing 3RUN and TBC1 domain containing 3RUN and TBC1 domain-containing protein 3merlin binding proteinmerlin-associated proteinrab-GTPase-activating protein-like proteinsmall G protein signaling
Modification date2018052320180523
UniProtAcc

Q9NR56

Q96HU1

Ensembl transtripts involved in fusion geneENST00000282488, ENST00000282486, 
ENST00000355460, ENST00000493459, 
ENST00000324210, ENST00000498502, 
ENST00000545754, ENST00000357472, 
ENST00000324196, ENST00000485910, 
ENST00000463374, ENST00000492948, 
ENST00000485509, ENST00000461436, 
ENST00000248929, ENST00000454798, 
Fusion gene scores* DoF score8 X 5 X 6=2408 X 3 X 7=168
# samples 88
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBNL1 [Title/Abstract] AND SGSM3 [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
HgeneMBNL1

GO:0008380

RNA splicing

18335541

HgeneMBNL1

GO:0043484

regulation of RNA splicing

15257297|16946708

TgeneSGSM3

GO:0043547

positive regulation of GTPase activity

17562788


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
TCGARVLUADTCGA-62-8395-01AMBNL1chr3

152150709

+SGSM3chr22

40796700

+
* 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-5UTRENST00000282488ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
intron-5UTRENST00000282488ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000282486ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000282486ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000355460ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000355460ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000493459ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000493459ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000324210ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000324210ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000498502ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000498502ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
intron-5UTRENST00000545754ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
intron-5UTRENST00000545754ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000357472ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000357472ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000324196ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000324196ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
intron-5UTRENST00000485910ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
intron-5UTRENST00000485910ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000463374ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000463374ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000492948ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000492948ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000485509ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
5CDS-5UTRENST00000485509ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+
intron-5UTRENST00000461436ENST00000248929MBNL1chr3

152150709

+SGSM3chr22

40796700

+
intron-5UTRENST00000461436ENST00000454798MBNL1chr3

152150709

+SGSM3chr22

40796700

+

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FusionProtFeatures for MBNL1_SGSM3


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

Q9NR56

SGSM3

Q96HU1

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}. May play a cooperative role in NF2-mediated growthsuppression of cells. {ECO:0000269|PubMed:15541357}.

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 MBNL1_SGSM3


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 MBNL1_SGSM3


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
MBNL1DHX9, 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, IRF2BP1SGSM3NF2, RPL35, PDCD6IP, NTRK1, RAB5A, RAB5B, RAB5C, RAB39B, NXF1, HLA-B, SNCA, KLF8, LEMD2, TRIM25


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 MBNL1_SGSM3


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 MBNL1_SGSM3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMBNL1C0027125Myotonia1CTD_human
HgeneMBNL1C0036341Schizophrenia1PSYGENET