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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: 34736

FusionGeneSummary for SMAD3_DIS3L

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAD3_DIS3L
Fusion gene ID: 34736
HgeneTgene
Gene symbol

SMAD3

DIS3L

Gene ID

4088

115752

Gene nameSMAD family member 3DIS3 like exosome 3'-5' exoribonuclease
SynonymsHSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3DIS3L1
Cytomap

15q22.33

15q22.31

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 homologDIS3-like exonuclease 1DIS3 mitotic control homolog-like
Modification date2018052220180523
UniProtAcc

P84022

Q8TF46

Ensembl transtripts involved in fusion geneENST00000327367, ENST00000559092, 
ENST00000540846, ENST00000439724, 
ENST00000537194, 
ENST00000319194, 
ENST00000441424, ENST00000319212, 
ENST00000568874, 
Fusion gene scores* DoF score15 X 10 X 10=15001 X 1 X 1=1
# samples 221
** MAII scorelog2(22/1500*10)=-2.76938707185858
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: SMAD3 [Title/Abstract] AND DIS3L [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

TgeneDIS3L

GO:0016075

rRNA catabolic process

20531389


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
TCGALDBRCATCGA-A7-A26G-01ASMAD3chr15

67358698

+DIS3Lchr15

66604062

+
* 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
Frame-shiftENST00000327367ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
Frame-shiftENST00000327367ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
Frame-shiftENST00000327367ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
5CDS-intronENST00000327367ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000559092ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000559092ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000559092ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-intronENST00000559092ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000540846ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000540846ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000540846ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-intronENST00000540846ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000439724ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000439724ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000439724ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-intronENST00000439724ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000537194ENST00000319194SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000537194ENST00000441424SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-3CDSENST00000537194ENST00000319212SMAD3chr15

67358698

+DIS3Lchr15

66604062

+
intron-intronENST00000537194ENST00000568874SMAD3chr15

67358698

+DIS3Lchr15

66604062

+

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FusionProtFeatures for SMAD3_DIS3L


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

P84022

DIS3L

Q8TF46

Putative cytoplasm-specific catalytic component of theRNA exosome complex which has 3'->5' exoribonuclease activity andparticipates in a multitude of cellular RNA processing anddegradation events. In the cytoplasm, the RNA exosome complex isinvolved in general mRNA turnover and specifically degradesinherently unstable mRNAs containing AU-rich elements (AREs)within their 3' untranslated regions, and in RNA surveillancepathways, preventing translation of aberrant mRNAs. It seems to beinvolved in degradation of histone mRNA.{ECO:0000269|PubMed:20531386, ECO:0000269|PubMed:20531389}.

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_DIS3L


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_DIS3L


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
SMAD3ATF2, NEDD9, AR, BRCA2, PML, ZFYVE9, ANAPC10, FOXO1, FOXO4, FOXO3, SMAD4, BTRC, PIAS3, RNF111, NOTCH1, EID2, NR3C1, SKI, HIPK2, PIAS4, ZEB1, ATF3, DVL1, ERBB2IP, TGIF1, TGIF2, MDM4, SKIL, CDC27, CDC16, DAB2, JUN, FOS, KPNB1, RBL1, E2F4, CTNNB1, RUNX2, TFE3, MAX, SMURF2, AKT1, SMAD2, MECOM, FOXH1, MEN1, NFYC, MYC, SP1, JUNB, JUND, RUNX1, RUNX3, SNW1, STRAP, SMAD7, ACVR1B, CEBPA, CEBPB, CEBPD, LEF1, PIN1, CSNK1G2, GSK3B, KDM5C, BMP7, FOXL2, UCHL5, PRDM16, BPTF, CDC25A, CUL1, FLI1, HOXC11, SS18L1, ZBTB3, NEDD4, EP300, CITED2, WWP1, SMURF1, ITCH, GRIP1, MYOCD, YY1, MED15, MED24, MED6, KAT2B, HDAC5, HDAC4, CREBBP, TOB1, BRCA1, SOX9, PITX1, PITX2, HDAC1, SIN3A, VDR, KAT2A, SMARCC2, ARID1A, SMARCC1, SMARCA4, TRIM33, NCOA3, RBX1, CTCF, KDM6B, ESR1, SRY, ACTB, PRTN3, SREBF2, STUB1, WWP2, MKL1, USP9X, NFIC, HNF4A, TP53, NUP214, NUP153, USP15, CDK8, CDK9, MAPK1, YAP1, DACH1, EPAS1, RGCC, SUV39H1, TCF12, CBL, ZEB2, NEDD4L, TRIB3, HGS, PAX6, ZMIZ1, PIAS2, CSNK1D, DDX3Y, HSPA4, LEMD3, PJA1, RPL3, ATXN2L, FAM83G, CHD8, RPSAP15, SLC25A12, SLC9A3R2, LRCH1, YTHDF2, TCP1, EPB41L5, PTPN6, DOCK9, PSPC1, DDX4, DDX3X, DNAJA2, SIK3, U2AF2, DHX8, C1orf116, ITGB4, CDK11A, RAB11FIP5, SMAD1, IRS1, SMAD5, DYRK1A, BUB3, SQRDL, PABPC1, DCAF7, OPA1, VAV2, USP7, RPL4, TGFBR1, S100A4, CHUK, APP, SMAD3, CDK4, CDK2, HIF1A, ELAC2, NOTCH4, PSMD11, MCM3AP, CYP11A1, RPLP0, SNRNP70, XRCC6, HIVEP1, FLNA, TGM2, PPP2R1A, ZNF83, CSH2, ZBTB16, PCDH1, PAPPA, TMED1, ANK3, EBI3, NCOA6, PLAG1, CXXC5, KANSL1, ZNF329, GGA1, SVEP1, RANBP9, SAP130, C10orf54, HEYL, CFDP1, ST6GALNAC2, PRDM4, PLAGL1, KMT2B, KDM2A, MTF2, HEY1, GMEB1, SPTBN1, DEDD, SH2D2A, LCK, PIK3CA, KLF5, IRF7, TSC2, FHL1, FHL2, FHL3, TGFB1I1, BAG3, MYD88, PCK2, SQSTM1, PPP1R12C, RNF31, ZC3H12A, TSC22D4, SETD2, CHRD, APMAP, HNRNPK, PARP4, PLG, CFH, AATF, FBLN1, ZMYND11, UBQLN4, TDP2, TF, APOB, NR4A1, HP, ISL1, LBP, PROX1, RCVRN, RELA, RPA1, TLR4, CFLAR, GIT2, TANK, DNAJB4, CORO1A, ZCCHC14, SERTAD1, RIOK2, CPTP, OTUB1, TP63, TRIM62, FOXM1, MAFK, BACH1, AES, PHC2, MEOX2, BLZF1, CPSF7, CCDC33, TEKT4, PPARG, DDX5, EIF4B, XPO6, SMAD9, LACRT, LDLRAD4, NFIA, NCOA1, PARD3, CAMK2G, ETS1, MAP3K7, MAPK8, CDKN1A, NF2, DNMT3L, TRIM25DIS3LEXOSC4, EXOSC7, EXOSC9, EXOSC3, EXOSC5, EXOSC8, EXOSC1, EXOSC2, SKIV2L2, EXOSC10, EXOSC6, GIGYF2, ZNF598, EIF4E2, HBS1L, HSPA1A, PAXIP1, LCN15, XPO1, H2AFX, SNRNP70, SRCAP, CDKN3, EYA3, LIN9, KIAA1683


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_DIS3L


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_DIS3L


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