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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DACH1-SMAD4 (FusionGDB2 ID:HG1602TG4089)

Fusion Gene Summary for DACH1-SMAD4

check button Fusion gene summary
Fusion gene informationFusion gene name: DACH1-SMAD4
Fusion gene ID: hg1602tg4089
HgeneTgene
Gene symbol

DACH1

SMAD4

Gene ID

1602

4089

Gene namedachshund family transcription factor 1SMAD family member 4
SynonymsDACHDPC4|JIP|MADH4|MYHRS
Cytomap('DACH1')('SMAD4')

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 date2020032820200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000305425, ENST00000313174, 
ENST00000354591, ENST00000359684, 
Fusion gene scores* DoF score8 X 7 X 4=22411 X 14 X 4=616
# samples 813
** MAII scorelog2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/616*10)=-2.24441872766645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointDACH1(72166537)-SMAD4(48591912), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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:0000122

negative regulation of transcription by RNA polymerase II

20956529

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
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for DACH1-SMAD4

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

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DACH1-SMAD4


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for DACH1-SMAD4


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:72166537/:48591912)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for DACH1-SMAD4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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


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Related Drugs for DACH1-SMAD4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DACH1-SMAD4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0345893Juvenile polyposis syndrome12CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1832940JUVENILE POLYPOSIS OF STOMACH8CLINGEN;CTD_human;ORPHANET
TgeneC1868081Juvenile Polyposis Coli8CLINGEN;CTD_human;ORPHANET
TgeneC0796081Myhre syndrome7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1832942JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0009402Colorectal Carcinoma3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0009404Colorectal Neoplasms3CTD_human
TgeneC0279628Adenocarcinoma Of Esophagus2CTD_human
TgeneC0009241Cognition Disorders1CTD_human
TgeneC0011052Prelingual Deafness1CTD_human
TgeneC0011053Deafness1CTD_human
TgeneC0021367Mammary Ductal Carcinoma1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0023897Liver Diseases, Parasitic1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0026848Myopathy1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0039445Hereditary hemorrhagic telangiectasia1GENOMICS_ENGLAND
TgeneC0086395Hearing Loss, Extreme1CTD_human
TgeneC0152171Idiopathic pulmonary hypertension1GENOMICS_ENGLAND
TgeneC0206698Cholangiocarcinoma1CTD_human
TgeneC0221357Brachydactyly1CTD_human
TgeneC0340543Familial primary pulmonary hypertension1GENOMICS_ENGLAND
TgeneC0345905Intrahepatic Cholangiocarcinoma1CTD_human
TgeneC0376634Craniofacial Abnormalities1CTD_human
TgeneC0581883Complete Hearing Loss1CTD_human
TgeneC0751068Deafness, Acquired1CTD_human
TgeneC1134719Invasive Ductal Breast Carcinoma1CTD_human
TgeneC11509292-oxo-hept-3-ene-1,7-dioate hydratase activity1GENOMICS_ENGLAND
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2931038Pancreatic carcinoma, familial1ORPHANET
TgeneC2973725Pulmonary arterial hypertension1GENOMICS_ENGLAND
TgeneC3203102Idiopathic pulmonary arterial hypertension1GENOMICS_ENGLAND
TgeneC3665473Bilateral Deafness1CTD_human
TgeneC3805278Extrahepatic Cholangiocarcinoma1CTD_human
TgeneC4082305Deaf Mutism1CTD_human
TgeneC4707243Familial thoracic aortic aneurysm and aortic dissection1GENOMICS_ENGLAND;ORPHANET