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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: 34746

FusionGeneSummary for SMAD3_SMAD3

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAD3_SMAD3
Fusion gene ID: 34746
HgeneTgene
Gene symbol

SMAD3

SMAD3

Gene ID

4088

4088

Gene nameSMAD family member 3SMAD family member 3
SynonymsHSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3
Cytomap

15q22.33

15q22.33

Type of geneprotein-codingprotein-coding
Descriptionmothers against decapentaplegic homolog 3MAD homolog 3MAD, mothers against decapentaplegic homolog 3SMA- and MAD-related protein 3SMAD, mothers against DPP homolog 3hMAD-3hSMAD3mad homolog JV15-2mad protein homologmad3mothers against DPP homologmothers against decapentaplegic homolog 3MAD homolog 3MAD, mothers against decapentaplegic homolog 3SMA- and MAD-related protein 3SMAD, mothers against DPP homolog 3hMAD-3hSMAD3mad homolog JV15-2mad protein homologmad3mothers against DPP homolog
Modification date2018052220180522
UniProtAcc

P84022

P84022

Ensembl transtripts involved in fusion geneENST00000327367, ENST00000559092, 
ENST00000540846, ENST00000439724, 
ENST00000537194, 		ENST00000327367, 
ENST00000559092, ENST00000540846, 
ENST00000439724, ENST00000537194, 
Fusion gene scores* DoF score15 X 10 X 10=15004 X 6 X 3=72
# samples 227
** MAII scorelog2(22/1500*10)=-2.76938707185858
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMAD3 [Title/Abstract] AND SMAD3 [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
HgeneSMAD3

GO:0000122

negative regulation of transcription by RNA polymerase II

8774881

HgeneSMAD3

GO:0006357

regulation of transcription by RNA polymerase II

21947082

HgeneSMAD3

GO:0007179

transforming growth factor beta receptor signaling pathway

9732876|18548003|21947082

HgeneSMAD3

GO:0007183

SMAD protein complex assembly

9111321|10823886

HgeneSMAD3

GO:0010628

positive regulation of gene expression

21307346

HgeneSMAD3

GO:0010718

positive regulation of epithelial to mesenchymal transition

21307346

HgeneSMAD3

GO:0019049

evasion or tolerance of host defenses by virus

15334054

HgeneSMAD3

GO:0030308

negative regulation of cell growth

8774881

HgeneSMAD3

GO:0045429

positive regulation of nitric oxide biosynthetic process

27038547

HgeneSMAD3

GO:0045599

negative regulation of fat cell differentiation

19816956

HgeneSMAD3

GO:0045893

positive regulation of transcription, DNA-templated

9111321|9311995|9732876

HgeneSMAD3

GO:0045944

positive regulation of transcription by RNA polymerase II

8774881|18832382

HgeneSMAD3

GO:0051481

negative regulation of cytosolic calcium ion concentration

27038547

HgeneSMAD3

GO:0071560

cellular response to transforming growth factor beta stimulus

12902338

HgeneSMAD3

GO:1901203

positive regulation of extracellular matrix assembly

21307346

TgeneSMAD3

GO:0000122

negative regulation of transcription by RNA polymerase II

8774881

TgeneSMAD3

GO:0006357

regulation of transcription by RNA polymerase II

21947082

TgeneSMAD3

GO:0007179

transforming growth factor beta receptor signaling pathway

9732876|18548003|21947082

TgeneSMAD3

GO:0007183

SMAD protein complex assembly

9111321|10823886

TgeneSMAD3

GO:0010628

positive regulation of gene expression

21307346

TgeneSMAD3

GO:0010718

positive regulation of epithelial to mesenchymal transition

21307346

TgeneSMAD3

GO:0019049

evasion or tolerance of host defenses by virus

15334054

TgeneSMAD3

GO:0030308

negative regulation of cell growth

8774881

TgeneSMAD3

GO:0045429

positive regulation of nitric oxide biosynthetic process

27038547

TgeneSMAD3

GO:0045599

negative regulation of fat cell differentiation

19816956

TgeneSMAD3

GO:0045893

positive regulation of transcription, DNA-templated

9111321|9311995|9732876

TgeneSMAD3

GO:0045944

positive regulation of transcription by RNA polymerase II

8774881|18832382

TgeneSMAD3

GO:0051481

negative regulation of cytosolic calcium ion concentration

27038547

TgeneSMAD3

GO:0071560

cellular response to transforming growth factor beta stimulus

12902338

TgeneSMAD3

GO:1901203

positive regulation of extracellular matrix assembly

21307346


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
ChiTaRS3.1AK129712SMAD3chr15

67403023

+SMAD3chr15

67399173

+
ChiTaRS3.1BF333017SMAD3chr15

67483047

+SMAD3chr15

67483164

-
ChiTaRS3.1BF770364SMAD3chr15

67399033

-SMAD3chr15

67398966

+
* 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-intronENST00000327367ENST00000327367SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000327367ENST00000559092SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000327367ENST00000540846SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000327367ENST00000439724SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000327367ENST00000537194SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000559092ENST00000327367SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000559092ENST00000559092SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000559092ENST00000540846SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000559092ENST00000439724SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000559092ENST00000537194SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000540846ENST00000327367SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000540846ENST00000559092SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000540846ENST00000540846SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000540846ENST00000439724SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000540846ENST00000537194SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000439724ENST00000327367SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000439724ENST00000559092SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000439724ENST00000540846SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000439724ENST00000439724SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000439724ENST00000537194SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000537194ENST00000327367SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000537194ENST00000559092SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000537194ENST00000540846SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000537194ENST00000439724SMAD3chr15

67403023

+SMAD3chr15

67399173

+
intron-intronENST00000537194ENST00000537194SMAD3chr15

67403023

+SMAD3chr15

67399173

+
3UTR-3UTRENST00000327367ENST00000327367SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000327367ENST00000559092SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000327367ENST00000540846SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-3UTRENST00000327367ENST00000439724SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000327367ENST00000537194SMAD3chr15

67483047

+SMAD3chr15

67483164

-
intron-3UTRENST00000559092ENST00000327367SMAD3chr15

67483047

+SMAD3chr15

67483164

-
intron-intronENST00000559092ENST00000559092SMAD3chr15

67483047

+SMAD3chr15

67483164

-
intron-intronENST00000559092ENST00000540846SMAD3chr15

67483047

+SMAD3chr15

67483164

-
intron-3UTRENST00000559092ENST00000439724SMAD3chr15

67483047

+SMAD3chr15

67483164

-
intron-intronENST00000559092ENST00000537194SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-3UTRENST00000540846ENST00000327367SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000540846ENST00000559092SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000540846ENST00000540846SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-3UTRENST00000540846ENST00000439724SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000540846ENST00000537194SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-3UTRENST00000439724ENST00000327367SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000439724ENST00000559092SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000439724ENST00000540846SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-3UTRENST00000439724ENST00000439724SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000439724ENST00000537194SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-3UTRENST00000537194ENST00000327367SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000537194ENST00000559092SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000537194ENST00000540846SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-3UTRENST00000537194ENST00000439724SMAD3chr15

67483047

+SMAD3chr15

67483164

-
3UTR-intronENST00000537194ENST00000537194SMAD3chr15

67483047

+SMAD3chr15

67483164

-
intron-intronENST00000327367ENST00000327367SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000327367ENST00000559092SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000327367ENST00000540846SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000327367ENST00000439724SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000327367ENST00000537194SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000559092ENST00000327367SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000559092ENST00000559092SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000559092ENST00000540846SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000559092ENST00000439724SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000559092ENST00000537194SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000540846ENST00000327367SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000540846ENST00000559092SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000540846ENST00000540846SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000540846ENST00000439724SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000540846ENST00000537194SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000439724ENST00000327367SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000439724ENST00000559092SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000439724ENST00000540846SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000439724ENST00000439724SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000439724ENST00000537194SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000537194ENST00000327367SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000537194ENST00000559092SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000537194ENST00000540846SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000537194ENST00000439724SMAD3chr15

67399033

-SMAD3chr15

67398966

+
intron-intronENST00000537194ENST00000537194SMAD3chr15

67399033

-SMAD3chr15

67398966

+

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FusionProtFeatures for SMAD3_SMAD3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMAD3

P84022

SMAD3

P84022


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 SMAD3_SMAD3


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 SMAD3_SMAD3


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 SMAD3_SMAD3


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 SMAD3_SMAD3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMAD3C0029408Degenerative polyarthritis2CTD_human
HgeneSMAD3C0376634Craniofacial Abnormalities2CTD_human
HgeneSMAD3C3151087LOEYS-DIETZ SYNDROME 32ORPHANET;UNIPROT
HgeneSMAD3C0002949Aneurysm, Dissecting1CTD_human
HgeneSMAD3C0003486Aortic Aneurysm1CTD_human;HPO
HgeneSMAD3C0010346Crohn Disease1CTD_human
HgeneSMAD3C0023267Fibroid Tumor1CTD_human
HgeneSMAD3C0023890Liver Cirrhosis1CTD_human
HgeneSMAD3C0023891Liver Cirrhosis, Alcoholic1CTD_human
HgeneSMAD3C0042138Uterine Neoplasms1CTD_human
HgeneSMAD3C0600519Ventricular Remodeling1CTD_human
HgeneSMAD3C2697932Loeys-Dietz Syndrome1CTD_human
HgeneSMAD3C3495559Juvenile arthritis1CTD_human
TgeneSMAD3C0029408Degenerative polyarthritis2CTD_human
TgeneSMAD3C0376634Craniofacial Abnormalities2CTD_human
TgeneSMAD3C3151087LOEYS-DIETZ SYNDROME 32ORPHANET;UNIPROT
TgeneSMAD3C0002949Aneurysm, Dissecting1CTD_human
TgeneSMAD3C0003486Aortic Aneurysm1CTD_human;HPO
TgeneSMAD3C0010346Crohn Disease1CTD_human
TgeneSMAD3C0023267Fibroid Tumor1CTD_human
TgeneSMAD3C0023890Liver Cirrhosis1CTD_human
TgeneSMAD3C0023891Liver Cirrhosis, Alcoholic1CTD_human
TgeneSMAD3C0042138Uterine Neoplasms1CTD_human
TgeneSMAD3C0600519Ventricular Remodeling1CTD_human
TgeneSMAD3C2697932Loeys-Dietz Syndrome1CTD_human
TgeneSMAD3C3495559Juvenile arthritis1CTD_human