FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 9249

FusionGeneSummary for DACH1_SMAD4

check button Fusion gene summary
Fusion gene informationFusion gene name: DACH1_SMAD4
Fusion gene ID: 9249
HgeneTgene
Gene symbol

DACH1

SMAD4

Gene ID

1602

4089

Gene namedachshund family transcription factor 1SMAD family member 4
SynonymsDACHDPC4|JIP|MADH4|MYHRS
Cytomap

13q21.33

18q21.2

Type of geneprotein-codingprotein-coding
Descriptiondachshund homolog 1dac homologmothers 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, 4
Modification date2018052320180527
UniProtAcc

Q9UI36

Q13485

Ensembl transtripts involved in fusion geneENST00000313174, ENST00000305425, 
ENST00000354591, ENST00000359684, 
ENST00000452201, ENST00000398417, 
ENST00000342988, ENST00000588745, 
ENST00000586253, 
Fusion gene scores* DoF score3 X 3 X 3=274 X 5 X 1=20
# samples 35
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DACH1 [Title/Abstract] AND SMAD4 [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
HgeneDACH1

GO:0030336

negative regulation of cell migration

20956529

HgeneDACH1

GO:2000279

negative regulation of DNA biosynthetic process

16980615

TgeneSMAD4

GO:0007179

transforming growth factor beta receptor signaling pathway

9389648|9732876

TgeneSMAD4

GO:0007183

SMAD protein complex assembly

10823886

TgeneSMAD4

GO:0030308

negative regulation of cell growth

8774881

TgeneSMAD4

GO:0030509

BMP signaling pathway

9389648

TgeneSMAD4

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

19328798

TgeneSMAD4

GO:0045892

negative regulation of transcription, DNA-templated

8774881

TgeneSMAD4

GO:0045893

positive regulation of transcription, DNA-templated

8774881|9311995|9389648|9707553|9732876

TgeneSMAD4

GO:0045944

positive regulation of transcription by RNA polymerase II

9389648|18832382

TgeneSMAD4

GO:0060395

SMAD protein signal transduction

9707553|9732876

TgeneSMAD4

GO:0071559

response to transforming growth factor beta

9707553


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
ChiTaRS3.1BE839020DACH1chr13

72166537

+SMAD4chr18

48591912

+
* 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-intronENST00000313174ENST00000452201DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000313174ENST00000398417DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000313174ENST00000342988DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000313174ENST00000588745DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000313174ENST00000586253DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000305425ENST00000452201DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000305425ENST00000398417DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000305425ENST00000342988DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000305425ENST00000588745DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000305425ENST00000586253DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000354591ENST00000452201DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000354591ENST00000398417DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000354591ENST00000342988DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000354591ENST00000588745DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000354591ENST00000586253DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000359684ENST00000452201DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000359684ENST00000398417DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000359684ENST00000342988DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000359684ENST00000588745DACH1chr13

72166537

+SMAD4chr18

48591912

+
intron-intronENST00000359684ENST00000586253DACH1chr13

72166537

+SMAD4chr18

48591912

+

Top

FusionProtFeatures for DACH1_SMAD4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DACH1

Q9UI36

SMAD4

Q13485

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


Top

FusionGeneSequence for DACH1_SMAD4


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).

Top

FusionGenePPI for DACH1_SMAD4


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 DACH1_SMAD4


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 DACH1_SMAD4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSMAD4C0345893Juvenile polyposis syndrome3CTD_human;ORPHANET;UNIPROT
TgeneSMAD4C0009404Colorectal Neoplasms2CTD_human
TgeneSMAD4C0279628Adenocarcinoma Of Esophagus2CTD_human
TgeneSMAD4C0796081Growth mental deficiency syndrome of Myhre2CTD_human;ORPHANET;UNIPROT
TgeneSMAD4C1832942JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)2CTD_human;UNIPROT
TgeneSMAD4C0009241Cognition Disorders1CTD_human
TgeneSMAD4C0011053Deafness1CTD_human;HPO
TgeneSMAD4C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneSMAD4C0023897Liver Diseases, Parasitic1CTD_human
TgeneSMAD4C0026848Myopathy1CTD_human
TgeneSMAD4C0038356Stomach Neoplasms1CTD_human
TgeneSMAD4C0206698Cholangiocarcinoma1CTD_human
TgeneSMAD4C0221357Brachydactyly1CTD_human;HPO
TgeneSMAD4C0376634Craniofacial Abnormalities1CTD_human
TgeneSMAD4C1134719Invasive Ductal Breast Carcinoma1CTD_human