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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: 34732

FusionGeneSummary for SMAD2_PPP6R3

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAD2_PPP6R3
Fusion gene ID: 34732
HgeneTgene
Gene symbol

SMAD2

PPP6R3

Gene ID

4087

55291

Gene nameSMAD family member 2protein phosphatase 6 regulatory subunit 3
SynonymsJV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2C11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3
Cytomap

18q21.1

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionmothers against decapentaplegic homolog 2MAD homolog 2SMAD, mothers against DPP homolog 2Sma- and Mad-related protein 2mother against DPP homolog 2serine/threonine-protein phosphatase 6 regulatory subunit 3SAPS domain family, member 3sporulation-induced transcript 4-associated protein SAPL
Modification date2018052220180520
UniProtAcc

Q15796

Q5H9R7

Ensembl transtripts involved in fusion geneENST00000262160, ENST00000402690, 
ENST00000356825, ENST00000586040, 
ENST00000591214, ENST00000587353, 
ENST00000393799, ENST00000530427, 
ENST00000393800, ENST00000534534, 
ENST00000524845, ENST00000265637, 
ENST00000524904, ENST00000393801, 
ENST00000265636, ENST00000529710, 
ENST00000527403, 
Fusion gene scores* DoF score6 X 4 X 6=14415 X 15 X 6=1350
# samples 719
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1350*10)=-2.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMAD2 [Title/Abstract] AND PPP6R3 [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
HgeneSMAD2

GO:0007179

transforming growth factor beta receptor signaling pathway

8752209|9389648|9732876|18548003

HgeneSMAD2

GO:0007182

common-partner SMAD protein phosphorylation

16806156

HgeneSMAD2

GO:0007183

SMAD protein complex assembly

9111321

HgeneSMAD2

GO:0045893

positive regulation of transcription, DNA-templated

9311995|9389648|9732876

HgeneSMAD2

GO:0045944

positive regulation of transcription by RNA polymerase II

9389648

HgeneSMAD2

GO:0070723

response to cholesterol

17878231

TgenePPP6R3

GO:0043666

regulation of phosphoprotein phosphatase activity

16716191


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
ChiTaRS3.1CV405453SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
* 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-intronENST00000262160ENST00000393799SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000530427SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000393800SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000534534SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000524845SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000265637SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000524904SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000393801SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000265636SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000529710SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000262160ENST00000527403SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000393799SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000530427SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000393800SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000534534SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000524845SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000265637SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000524904SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000393801SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000265636SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000529710SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000402690ENST00000527403SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000393799SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000530427SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000393800SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000534534SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000524845SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000265637SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000524904SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000393801SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000265636SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000529710SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000356825ENST00000527403SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000393799SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000530427SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000393800SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000534534SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000524845SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000265637SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000524904SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000393801SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000265636SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000529710SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000586040ENST00000527403SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000393799SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000530427SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000393800SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000534534SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000524845SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000265637SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000524904SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000393801SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000265636SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000529710SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000591214ENST00000527403SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000393799SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000530427SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000393800SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000534534SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000524845SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000265637SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000524904SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000393801SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000265636SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000529710SMAD2chr18

45431045

+PPP6R3chr11

68274481

-
intron-intronENST00000587353ENST00000527403SMAD2chr18

45431045

+PPP6R3chr11

68274481

-

Top

FusionProtFeatures for SMAD2_PPP6R3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMAD2

Q15796

PPP6R3

Q5H9R7

Receptor-regulated SMAD (R-SMAD) that is anintracellular signal transducer and transcriptional modulatoractivated by TGF-beta (transforming growth factor) and activintype 1 receptor kinases. Binds the TRE element in the promoterregion of many genes that are regulated by TGF-beta and, onformation of the SMAD2/SMAD4 complex, activates transcription. Mayact as a tumor suppressor in colorectal carcinoma. Positivelyregulates PDPK1 kinase activity by stimulating its dissociationfrom the 14-3-3 protein YWHAQ which acts as a negative regulator.{ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:16862174,ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:19289081,ECO:0000269|PubMed:9892009}.

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 SMAD2_PPP6R3


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 SMAD2_PPP6R3


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


Top

RelatedDrugs for SMAD2_PPP6R3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for SMAD2_PPP6R3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMAD2C0376634Craniofacial Abnormalities2CTD_human
HgeneSMAD2C0019189Hepatitis, Chronic1CTD_human
HgeneSMAD2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSMAD2C0265287Acromicric Dysplasia1CTD_human
HgeneSMAD2C0600519Ventricular Remodeling1CTD_human
HgeneSMAD2C1876165Copper-Overload Cirrhosis1CTD_human