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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: 34750

FusionGeneSummary for SMAD4_NRG1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAD4_NRG1
Fusion gene ID: 34750
HgeneTgene
Gene symbol

SMAD4

NRG1

Gene ID

4089

3084

Gene nameSMAD family member 4neuregulin 1
SynonymsDPC4|JIP|MADH4|MYHRSARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|MST131|MSTP131|NDF|NRG1-IT2|SMDF
Cytomap

18q21.2

8p12

Type of geneprotein-codingprotein-coding
Descriptionmothers against decapentaplegic homolog 4MAD homolog 4SMAD, mothers against DPP homolog 4deleted in pancreatic carcinoma locus 4deletion target in pancreatic carcinoma 4mothers against decapentaplegic, Drosophila, homolog of, 4pro-neuregulin-1, membrane-bound isoformacetylcholine receptor-inducing activityglial growth factor 2heregulin, alpha (45kD, ERBB2 p185-activator)neu differentiation factorpro-NRG1sensory and motor neuron derived factor
Modification date2018052720180523
UniProtAcc

Q13485

Q02297

Ensembl transtripts involved in fusion geneENST00000452201, ENST00000398417, 
ENST00000342988, ENST00000588745, 
ENST00000586253, 		ENST00000519301, 
ENST00000520407, ENST00000523079, 
ENST00000338921, ENST00000356819, 
ENST00000287845, ENST00000341377, 
ENST00000287842, ENST00000521670, 
ENST00000405005, ENST00000520502, 
ENST00000539990, ENST00000523681, 
Fusion gene scores* DoF score5 X 5 X 4=10016 X 6 X 11=1056
# samples 516
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1056*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMAD4 [Title/Abstract] AND NRG1 [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
HgeneSMAD4

GO:0007179

transforming growth factor beta receptor signaling pathway

9389648|9732876

HgeneSMAD4

GO:0007183

SMAD protein complex assembly

10823886

HgeneSMAD4

GO:0030308

negative regulation of cell growth

8774881

HgeneSMAD4

GO:0030509

BMP signaling pathway

9389648

HgeneSMAD4

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

19328798

HgeneSMAD4

GO:0045892

negative regulation of transcription, DNA-templated

8774881

HgeneSMAD4

GO:0045893

positive regulation of transcription, DNA-templated

8774881|9311995|9389648|9707553|9732876

HgeneSMAD4

GO:0045944

positive regulation of transcription by RNA polymerase II

9389648|18832382

HgeneSMAD4

GO:0060395

SMAD protein signal transduction

9707553|9732876

HgeneSMAD4

GO:0071559

response to transforming growth factor beta

9707553

TgeneNRG1

GO:0003222

ventricular trabecula myocardium morphogenesis

17336907

TgeneNRG1

GO:0038127

ERBB signaling pathway

11389077

TgeneNRG1

GO:0038129

ERBB3 signaling pathway

27353365

TgeneNRG1

GO:0043497

regulation of protein heterodimerization activity

10559227

TgeneNRG1

GO:0045892

negative regulation of transcription, DNA-templated

15073182

TgeneNRG1

GO:0051048

negative regulation of secretion

10559227

TgeneNRG1

GO:0060379

cardiac muscle cell myoblast differentiation

17336907

TgeneNRG1

GO:0060956

endocardial cell differentiation

17336907


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
TCGARVLUSCTCGA-63-A5MP-01ASMAD4chr18

48556993

+NRG1chr8

32585467

+
* 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-3CDSENST00000452201ENST00000519301SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000520407SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000523079SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000338921SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000356819SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000287845SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000341377SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000287842SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000521670SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000405005SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000520502SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000452201ENST00000539990SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-intronENST00000452201ENST00000523681SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000519301SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000520407SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000523079SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000338921SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000356819SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000287845SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000341377SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000287842SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000521670SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000405005SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000520502SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000398417ENST00000539990SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-intronENST00000398417ENST00000523681SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000519301SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000520407SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000523079SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000338921SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000356819SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000287845SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000341377SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000287842SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000521670SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000405005SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000520502SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-3CDSENST00000342988ENST00000539990SMAD4chr18

48556993

+NRG1chr8

32585467

+
5UTR-intronENST00000342988ENST00000523681SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000519301SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000520407SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000523079SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000338921SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000356819SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000287845SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000341377SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000287842SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000521670SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000405005SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000520502SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000588745ENST00000539990SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-intronENST00000588745ENST00000523681SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000519301SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000520407SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000523079SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000338921SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000356819SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000287845SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000341377SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000287842SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000521670SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000405005SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000520502SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-3CDSENST00000586253ENST00000539990SMAD4chr18

48556993

+NRG1chr8

32585467

+
intron-intronENST00000586253ENST00000523681SMAD4chr18

48556993

+NRG1chr8

32585467

+

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FusionProtFeatures for SMAD4_NRG1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMAD4

Q13485

NRG1

Q02297

In muscle physiology, plays a central role in thebalance between atrophy and hypertrophy. When recruited by MSTN,promotes atrophy response via phosphorylated SMAD2/4. MSTNdecrease causes SMAD4 release and subsequent recruitment by theBMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8.Acts synergistically with SMAD1 and YY1 in bone morphogeneticprotein (BMP)-mediated cardiac-specific gene expression. Binds toSMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP responseelement (BMPRE) of cardiac activating regions (By similarity).Common SMAD (co-SMAD) is the coactivator and mediator of signaltransduction by TGF-beta (transforming growth factor). Componentof the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in thenucleus and is required for the TGF-mediated signaling. Promotesbinding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides anactivation function required for SMAD1 or SMAD2 to stimulatetranscription. Component of the multimeric SMAD3/SMAD4/JUN/FOScomplex which forms at the AP1 promoter site; required forsynergistic transcriptional activity in response to TGF-beta. Mayact as a tumor suppressor. Positively regulates PDPK1 kinaseactivity by stimulating its dissociation from the 14-3-3 proteinYWHAQ which acts as a negative regulator. {ECO:0000250,ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:9389648}.

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 SMAD4_NRG1


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 SMAD4_NRG1


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
SMAD4ATF2, CITED1, DCP1A, SMAD9, EWSR1, UBE2I, FOXO3, FOXO1, FOXO4, SMAD3, BTRC, PIAS3, DLX1, EID2, SKI, SMAD1, PIAS4, SMAD2, DVL1, ERBB2IP, MDM4, SNIP1, EP300, STK11IP, ZNF423, TOB1, KPNB1, RBL1, CTNNB1, SKIL, TFE3, MAX, AKT1, CAMK2G, FOXH1, AR, HOXC8, JUNB, SMAD5, SNW1, SMAD7, COPS5, CEBPA, CEBPB, CEBPD, TGFBRAP1, TGFBR1, LEF1, HOXA9, SMAD6, SKP2, SMURF1, GATA2, NKX3-2, YY1, MECOM, SUMO1, DAXX, SP1, HDAC1, KDM6B, TRIM33, NKX2-5, STUB1, USP9X, HNF4A, NUP214, USP15, DACH1, ISG15, WWP1, RNF11, HGS, PAX6, EIF4A3, NCBP1, ALYREF, DDX39B, THOC2, THOC5, ZMIZ1, PIAS2, HERC5, SMAD4, NOTCH4, PSMD11, MAPK13, PRPF40A, PIAS1, CSH1, CSH2, SNRNP70, RALA, PSG2, CD59, MYOD1, RFX1, FBLN1, DNAJB2, RPL28, TCTA, EEF1A1, HDLBP, PSG9, TDG, GPNMB, ZBED5, ATF7IP, NELFCD, DCP1B, CNKSR1, RMND5B, UHRF2, TM9SF2, USB1, PAPPA2, XPO5, HMG20A, TENM3, ZMYM2, SPTBN1, ZNF521, KLF5, IRF7, IRF3, NCOR1, FHL1, FHL2, FHL3, CSNK1D, TGFB1I1, PLG, SERPINA1, FN1, RELA, SOX12, NR0B2, CYFIP2, NLK, OTUB1, CRYAB, SMURF2, LMO4, RASSF5, GLI1, LHX4, SHMT1, ALDOC, ILKAP, NFIA, PARD3, BCAS3, BEX1, DKK3, FAM84B, GREB1, IL24, LYPD3, S100A14, SERPINB5, THRSP, XPO1, CDKN1A, JUN, NFIX, NFKB1, CHAF1B, ZBTB7A, CREBBP, DNMT3L, NANOG, WEE1, MTOR, CDK9, AHR, TIAF1, TRIM25, USP4NRG1LIMK1, ERBB3, ERBB2, EGFR, ERBB4, MBOAT7, LSR, PGAP1, KIAA2013, SREBF2, LEMD3, TMTC3, TMTC4, POMGNT2, SLC38A10, ATP7B, SLC35B2, NDUFA3, ZDHHC17, TMEM39B, DNAAF5, B3GNT2, RHOBTB3, CISD2, POMT1, SPTLC2, SLC25A16, RDH11, MGAT1, HMOX1, KIAA1467, EXTL3, SLC25A23, NETO2, LPHN1, CNTNAP3, HLA-DPB1, UQCRQ, GLMN, DEGS1, TMEM63B, DDX11L8, ABCB10, GYLTL1B, B3GALNT2, TMEM181, INTS7, MYO19, GALNT11, C1GALT1C1, SLC22A18, NEK4, ABCA3, TMEM164, MTCH1, OPA3, HS6ST1, SFXN3, TM2D3, DSE, TMEM205, RNF130, PIGU, CDC5L, LGR4, TUBB3


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 SMAD4_NRG1


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 SMAD4_NRG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMAD4C0345893Juvenile polyposis syndrome3CTD_human;ORPHANET;UNIPROT
HgeneSMAD4C0009404Colorectal Neoplasms2CTD_human
HgeneSMAD4C0279628Adenocarcinoma Of Esophagus2CTD_human
HgeneSMAD4C0796081Growth mental deficiency syndrome of Myhre2CTD_human;ORPHANET;UNIPROT
HgeneSMAD4C1832942JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)2CTD_human;UNIPROT
HgeneSMAD4C0009241Cognition Disorders1CTD_human
HgeneSMAD4C0011053Deafness1CTD_human;HPO
HgeneSMAD4C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSMAD4C0023897Liver Diseases, Parasitic1CTD_human
HgeneSMAD4C0026848Myopathy1CTD_human
HgeneSMAD4C0038356Stomach Neoplasms1CTD_human
HgeneSMAD4C0206698Cholangiocarcinoma1CTD_human
HgeneSMAD4C0221357Brachydactyly1CTD_human;HPO
HgeneSMAD4C0376634Craniofacial Abnormalities1CTD_human
HgeneSMAD4C1134719Invasive Ductal Breast Carcinoma1CTD_human
TgeneNRG1C0036341Schizophrenia7CTD_human
TgeneNRG1C0005586Bipolar Disorder5PSYGENET
TgeneNRG1C0024809Marijuana Abuse3PSYGENET
TgeneNRG1C0011570Mental Depression2PSYGENET
TgeneNRG1C0011581Depressive disorder2PSYGENET
TgeneNRG1C0006870Cannabis Dependence1PSYGENET
TgeneNRG1C0007621Neoplastic Cell Transformation1CTD_human
TgeneNRG1C0011616Contact Dermatitis1CTD_human
TgeneNRG1C0018801Heart failure1CTD_human
TgeneNRG1C0019569Hirschsprung Disease1CTD_human
TgeneNRG1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneNRG1C0026650Movement Disorders1CTD_human
TgeneNRG1C0027626Neoplasm Invasiveness1CTD_human
TgeneNRG1C0030193Pain1CTD_human
TgeneNRG1C0032460Polycystic Ovary Syndrome1CTD_human
TgeneNRG1C0033937Psychoses, Drug1PSYGENET
TgeneNRG1C0038358Gastric ulcer1CTD_human
TgeneNRG1C0236733Amphetamine-Related Disorders1CTD_human
TgeneNRG1C1458155Mammary Neoplasms1CTD_human
TgeneNRG1C3495559Juvenile arthritis1CTD_human