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Fusion gene ID: 9249 |
FusionGeneSummary for DACH1_SMAD4 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DACH1_SMAD4 | Fusion gene ID: 9249 | Hgene | Tgene | Gene symbol | DACH1 | SMAD4 | Gene ID | 1602 | 4089 |
Gene name | dachshund family transcription factor 1 | SMAD family member 4 | |
Synonyms | DACH | DPC4|JIP|MADH4|MYHRS | |
Cytomap | 13q21.33 | 18q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | dachshund homolog 1dac homolog | mothers 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 date | 20180523 | 20180527 | |
UniProtAcc | Q9UI36 | Q13485 | |
Ensembl transtripts involved in fusion gene | ENST00000313174, ENST00000305425, ENST00000354591, ENST00000359684, | ENST00000452201, ENST00000398417, ENST00000342988, ENST00000588745, ENST00000586253, | |
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 5 X 1=20 |
# samples | 3 | 5 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | DACH1 | GO:0030336 | negative regulation of cell migration | 20956529 |
Hgene | DACH1 | GO:2000279 | negative regulation of DNA biosynthetic process | 16980615 |
Tgene | SMAD4 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9389648|9732876 |
Tgene | SMAD4 | GO:0007183 | SMAD protein complex assembly | 10823886 |
Tgene | SMAD4 | GO:0030308 | negative regulation of cell growth | 8774881 |
Tgene | SMAD4 | GO:0030509 | BMP signaling pathway | 9389648 |
Tgene | SMAD4 | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | 19328798 |
Tgene | SMAD4 | GO:0045892 | negative regulation of transcription, DNA-templated | 8774881 |
Tgene | SMAD4 | GO:0045893 | positive regulation of transcription, DNA-templated | 8774881|9311995|9389648|9707553|9732876 |
Tgene | SMAD4 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9389648|18832382 |
Tgene | SMAD4 | GO:0060395 | SMAD protein signal transduction | 9707553|9732876 |
Tgene | SMAD4 | GO:0071559 | response to transforming growth factor beta | 9707553 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BE839020 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000313174 | ENST00000452201 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000313174 | ENST00000398417 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000313174 | ENST00000342988 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000313174 | ENST00000588745 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000313174 | ENST00000586253 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000305425 | ENST00000452201 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000305425 | ENST00000398417 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000305425 | ENST00000342988 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000305425 | ENST00000588745 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000305425 | ENST00000586253 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000354591 | ENST00000452201 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000354591 | ENST00000398417 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000354591 | ENST00000342988 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000354591 | ENST00000588745 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000354591 | ENST00000586253 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000359684 | ENST00000452201 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000359684 | ENST00000398417 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000359684 | ENST00000342988 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000359684 | ENST00000588745 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
intron-intron | ENST00000359684 | ENST00000586253 | DACH1 | chr13 | 72166537 | + | SMAD4 | chr18 | 48591912 | + |
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FusionProtFeatures for DACH1_SMAD4 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DACH1 | SMAD4 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for DACH1_SMAD4 |
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 DACH1_SMAD4 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for DACH1_SMAD4 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for DACH1_SMAD4 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SMAD4 | C0345893 | Juvenile polyposis syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | SMAD4 | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
Tgene | SMAD4 | C0279628 | Adenocarcinoma Of Esophagus | 2 | CTD_human |
Tgene | SMAD4 | C0796081 | Growth mental deficiency syndrome of Myhre | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | SMAD4 | C1832942 | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) | 2 | CTD_human;UNIPROT |
Tgene | SMAD4 | C0009241 | Cognition Disorders | 1 | CTD_human |
Tgene | SMAD4 | C0011053 | Deafness | 1 | CTD_human;HPO |
Tgene | SMAD4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | SMAD4 | C0023897 | Liver Diseases, Parasitic | 1 | CTD_human |
Tgene | SMAD4 | C0026848 | Myopathy | 1 | CTD_human |
Tgene | SMAD4 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | SMAD4 | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
Tgene | SMAD4 | C0221357 | Brachydactyly | 1 | CTD_human;HPO |
Tgene | SMAD4 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | SMAD4 | C1134719 | Invasive Ductal Breast Carcinoma | 1 | CTD_human |