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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:DACT1-COL1A1 (FusionGDB2 ID:21252) |
Fusion Gene Summary for DACT1-COL1A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DACT1-COL1A1 | Fusion gene ID: 21252 | Hgene | Tgene | Gene symbol | DACT1 | COL1A1 | Gene ID | 51339 | 1277 |
| Gene name | dishevelled binding antagonist of beta catenin 1 | collagen type I alpha 1 chain | |
| Synonyms | DAPPER|DAPPER1|DPR1|FRODO|HDPR1|TBS2|THYEX3 | CAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | |
| Cytomap | 14q23.1 | 17q21.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dapper homolog 1dapper antagonist of catenin 1dapper, antagonist of beta-catenin, homolog 1hepatocellular carcinoma novel gene 3 proteinheptacellular carcinoma novel gene 3 | collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro | |
| Modification date | 20200313 | 20200322 | |
| UniProtAcc | Q9NYF0 | P02452 | |
| Ensembl transtripts involved in fusion gene | ENST00000556859, ENST00000395153, ENST00000335867, ENST00000541264, ENST00000555845, | ENST00000225964, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 44 X 105 X 13=60060 |
| # samples | 1 | 80 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(80/60060*10)=-6.23026066466979 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DACT1 [Title/Abstract] AND COL1A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DACT1(59114217)-COL1A1(48264057), # samples:2 | ||
| 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) |
| 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 | DACT1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 18936100 |
| Hgene | DACT1 | GO:0030177 | positive regulation of Wnt signaling pathway | 21262972 |
| Hgene | DACT1 | GO:0030178 | negative regulation of Wnt signaling pathway | 16446366|17197390 |
| Hgene | DACT1 | GO:0031647 | regulation of protein stability | 21262972 |
| Hgene | DACT1 | GO:0045732 | positive regulation of protein catabolic process | 16446366 |
| Hgene | DACT1 | GO:0046329 | negative regulation of JNK cascade | 17197390 |
| Hgene | DACT1 | GO:1900107 | regulation of nodal signaling pathway | 17197390 |
| Hgene | DACT1 | GO:1903364 | positive regulation of cellular protein catabolic process | 16446366 |
| Hgene | DACT1 | GO:1904864 | negative regulation of beta-catenin-TCF complex assembly | 18936100 |
| Hgene | DACT1 | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 18936100 |
| Tgene | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
| Tgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
| Tgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
| Tgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
| Tgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
| Fusion gene breakpoints across DACT1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across COL1A1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | AW840527 | DACT1 | chr14 | 59114217 | + | COL1A1 | chr17 | 48264057 | + |
| ChiTaRS5.0 | N/A | BG877983 | DACT1 | chr14 | 59114217 | + | COL1A1 | chr17 | 48264057 | + |
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Fusion Gene ORF analysis for DACT1-COL1A1 |
| 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-3CDS | ENST00000556859 | ENST00000225964 | DACT1 | chr14 | 59114217 | + | COL1A1 | chr17 | 48264057 | + |
| 3UTR-3CDS | ENST00000395153 | ENST00000225964 | DACT1 | chr14 | 59114217 | + | COL1A1 | chr17 | 48264057 | + |
| intron-3CDS | ENST00000335867 | ENST00000225964 | DACT1 | chr14 | 59114217 | + | COL1A1 | chr17 | 48264057 | + |
| intron-3CDS | ENST00000541264 | ENST00000225964 | DACT1 | chr14 | 59114217 | + | COL1A1 | chr17 | 48264057 | + |
| intron-3CDS | ENST00000555845 | ENST00000225964 | DACT1 | chr14 | 59114217 | + | COL1A1 | chr17 | 48264057 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for DACT1-COL1A1 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for DACT1-COL1A1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DACT1 | COL1A1 |
| FUNCTION: Involved in regulation of intracellular signaling pathways during development. Specifically thought to play a role in canonical and/or non-canonical Wnt signaling pathways through interaction with DSH (Dishevelled) family proteins. The activation/inhibition of Wnt signaling may depend on the phosphorylation status. Proposed to regulate the degradation of CTNNB1/beta-catenin, thereby modulating the transcriptional activation of target genes of the Wnt signaling pathway. Its function in stabilizing CTNNB1 may involve inhibition of GSK3B activity. Promotes the membrane localization of CTNNB1. The cytoplasmic form can induce DVL2 degradation via a lysosome-dependent mechanism; the function is inhibited by PKA-induced binding to 14-3-3 proteins, such as YWHAB. Seems to be involved in morphogenesis at the primitive streak by regulating VANGL2 and DVL2; the function seems to be independent of canonical Wnt signaling and rather involves the non-canonical Wnt/planar cell polarity (PCP) pathway (By similarity). The nuclear form may prevent the formation of LEF1:CTNNB1 complex and recruit HDAC1 to LEF1 at target gene promoters to repress transcription thus antagonizing Wnt signaling. May be involved in positive regulation of fat cell differentiation. During neuronal differentiation may be involved in excitatory synapse organization, and dendrite formation and establishment of spines. {ECO:0000250, ECO:0000269|PubMed:15580286, ECO:0000269|PubMed:16446366, ECO:0000269|PubMed:17197390, ECO:0000269|PubMed:18936100, ECO:0000269|PubMed:22470507}. | FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen). |
| 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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Fusion Gene Sequence for DACT1-COL1A1 |
| 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 DACT1-COL1A1 |
| 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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Related Drugs for DACT1-COL1A1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | COL1A1 | P02452 | DB00048 | Collagenase clostridium histolyticum | Binder | Biotech | Approved|Investigational |
| Tgene | COL1A1 | P02452 | DB12872 | Vonicog Alfa | Binder | Biotech | Approved|Investigational |
| Tgene | COL1A1 | P02452 | DB13133 | Von Willebrand Factor Human | Binder | Biotech | Approved|Investigational |
| Tgene | COL1A1 | P02452 | DB11338 | Clove oil | Biotech | Approved|Nutraceutical | |
| Tgene | COL1A1 | P02452 | DB04866 | Halofuginone | Small molecule | Investigational|Vet_approved |
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Related Diseases for DACT1-COL1A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DACT1 | C4479534 | TOWNES-BROCKS SYNDROME 2 | 3 | GENOMICS_ENGLAND |
| Hgene | DACT1 | C0009402 | Colorectal Carcinoma | 1 | CTD_human;UNIPROT |
| Hgene | DACT1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | DACT1 | C0014067 | Occipital Encephalocele | 1 | ORPHANET |
| Hgene | DACT1 | C0152426 | Craniorachischisis | 1 | ORPHANET |
| Hgene | DACT1 | C0265246 | Townes syndrome | 1 | CTD_human;ORPHANET |
| Hgene | DACT1 | C3891448 | NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | 1 | UNIPROT |
| Tgene | COL1A1 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 38 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | COL1A1 | C0268362 | Osteogenesis imperfecta type III (disorder) | 17 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | COL1A1 | C0023931 | Lobstein Disease | 15 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | COL1A1 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 12 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | COL1A1 | C0023890 | Liver Cirrhosis | 4 | CTD_human |
| Tgene | COL1A1 | C0239946 | Fibrosis, Liver | 4 | CTD_human |
| Tgene | COL1A1 | C4551623 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 | 4 | CTD_human;GENOMICS_ENGLAND |
| Tgene | COL1A1 | C4552122 | EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | 4 | GENOMICS_ENGLAND;UNIPROT |
| Tgene | COL1A1 | C0020497 | Cortical Congenital Hyperostosis | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | COL1A1 | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
| Tgene | COL1A1 | C0268345 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE | 2 | ORPHANET |
| Tgene | COL1A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | COL1A1 | C0000822 | Abortion, Tubal | 1 | CTD_human |
| Tgene | COL1A1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
| Tgene | COL1A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| Tgene | COL1A1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Tgene | COL1A1 | C0005398 | Cholestasis, Extrahepatic | 1 | CTD_human |
| Tgene | COL1A1 | C0005779 | Blood Coagulation Disorders | 1 | GENOMICS_ENGLAND |
| Tgene | COL1A1 | C0006663 | Calcinosis | 1 | CTD_human |
| Tgene | COL1A1 | C0008311 | Cholangitis | 1 | CTD_human |
| Tgene | COL1A1 | C0013720 | Ehlers-Danlos Syndrome | 1 | GENOMICS_ENGLAND |
| Tgene | COL1A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | COL1A1 | C0018824 | Heart valve disease | 1 | CTD_human |
| Tgene | COL1A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | COL1A1 | C0022548 | Keloid | 1 | CTD_human |
| Tgene | COL1A1 | C0027719 | Nephrosclerosis | 1 | CTD_human |
| Tgene | COL1A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| Tgene | COL1A1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
| Tgene | COL1A1 | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human;GENOMICS_ENGLAND |
| Tgene | COL1A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Tgene | COL1A1 | C0220679 | Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified | 1 | ORPHANET |
| Tgene | COL1A1 | C0263628 | Tumoral calcinosis | 1 | CTD_human |
| Tgene | COL1A1 | C0340643 | Dissection of aorta | 1 | CTD_human |
| Tgene | COL1A1 | C0521174 | Microcalcification | 1 | CTD_human |
| Tgene | COL1A1 | C1458140 | Bleeding tendency | 1 | GENOMICS_ENGLAND |
| Tgene | COL1A1 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |
| Tgene | COL1A1 | C1623038 | Cirrhosis | 1 | CTD_human |
| Tgene | COL1A1 | C1846545 | Autoimmune Lymphoproliferative Syndrome Type 2B | 1 | GENOMICS_ENGLAND |
| Tgene | COL1A1 | C3830362 | Early Pregnancy Loss | 1 | CTD_human |
| Tgene | COL1A1 | C4277533 | Dissection, Blood Vessel | 1 | CTD_human |
| Tgene | COL1A1 | C4552766 | Miscarriage | 1 | CTD_human |
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