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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: 9251

FusionGeneSummary for DACT1_COL1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: DACT1_COL1A1
Fusion gene ID: 9251
HgeneTgene
Gene symbol

DACT1

COL1A1

Gene ID

51339

1277

Gene namedishevelled binding antagonist of beta catenin 1collagen type I alpha 1 chain
SynonymsDAPPER|DAPPER1|DPR1|FRODO|HDPR1|TBS2|THYEX3EDSARTH1|EDSC|OI1|OI2|OI3|OI4
Cytomap

14q23.1

17q21.33

Type of geneprotein-codingprotein-coding
Descriptiondapper homolog 1dapper antagonist of catenin 1dapper, antagonist of beta-catenin, homolog 1hepatocellular carcinoma novel gene 3 proteinheptacellular carcinoma novel gene 3collagen 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 date2018052320180527
UniProtAcc

Q9NYF0

P02452

Ensembl transtripts involved in fusion geneENST00000556859, ENST00000395153, 
ENST00000335867, ENST00000541264, 
ENST00000555845, 
ENST00000225964, 
Fusion gene scores* DoF score1 X 1 X 1=125 X 35 X 6=5250
# samples 239
** MAII scorelog2(2/1*10)=4.32192809488736log2(39/5250*10)=-3.75077139369124
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]

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
HgeneDACT1

GO:0000122

negative regulation of transcription by RNA polymerase II

18936100

HgeneDACT1

GO:0030177

positive regulation of Wnt signaling pathway

21262972

HgeneDACT1

GO:0030178

negative regulation of Wnt signaling pathway

16446366|17197390

HgeneDACT1

GO:0031647

regulation of protein stability

21262972

HgeneDACT1

GO:0045732

positive regulation of protein catabolic process

16446366

HgeneDACT1

GO:0046329

negative regulation of JNK cascade

17197390

HgeneDACT1

GO:1900107

regulation of nodal signaling pathway

17197390

HgeneDACT1

GO:1903364

positive regulation of cellular protein catabolic process

16446366

HgeneDACT1

GO:1904864

negative regulation of beta-catenin-TCF complex assembly

18936100

HgeneDACT1

GO:2000134

negative regulation of G1/S transition of mitotic cell cycle

18936100

TgeneCOL1A1

GO:0010718

positive regulation of epithelial to mesenchymal transition

20018240

TgeneCOL1A1

GO:0030335

positive regulation of cell migration

20018240

TgeneCOL1A1

GO:0034504

protein localization to nucleus

20018240

TgeneCOL1A1

GO:0045893

positive regulation of transcription, DNA-templated

20018240

TgeneCOL1A1

GO:0090263

positive regulation of canonical Wnt signaling pathway

20018240


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
ChiTaRS3.1AW840527DACT1chr14

59114217

+COL1A1chr17

48264057

+
ChiTaRS3.1BG877983DACT1chr14

59114217

+COL1A1chr17

48264057

+
* 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-3CDSENST00000556859ENST00000225964DACT1chr14

59114217

+COL1A1chr17

48264057

+
3UTR-3CDSENST00000395153ENST00000225964DACT1chr14

59114217

+COL1A1chr17

48264057

+
intron-3CDSENST00000335867ENST00000225964DACT1chr14

59114217

+COL1A1chr17

48264057

+
intron-3CDSENST00000541264ENST00000225964DACT1chr14

59114217

+COL1A1chr17

48264057

+
intron-3CDSENST00000555845ENST00000225964DACT1chr14

59114217

+COL1A1chr17

48264057

+

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FusionProtFeatures for DACT1_COL1A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DACT1

Q9NYF0

COL1A1

P02452

Involved in regulation of intracellular signalingpathways during development. Specifically thought to play a rolein canonical and/or non-canonical Wnt signaling pathways throughinteraction with DSH (Dishevelled) family proteins. Theactivation/inhibition of Wnt signaling may depend on thephosphorylation status. Proposed to regulate the degradation ofCTNNB1/beta-catenin, thereby modulating the transcriptionalactivation of target genes of the Wnt signaling pathway. Itsfunction in stabilizing CTNNB1 may involve inhibition of GSK3Bactivity. Promotes the membrane localization of CTNNB1. Thecytoplasmic form can induce DVL2 degradation via a lysosome-dependent mechanism; the function is inhibited by PKA-inducedbinding to 14-3-3 proteins, such as YWHAB. Seems to be involved inmorphogenesis at the primitive streak by regulating VANGL2 andDVL2; the function seems to be independent of canonical Wntsignaling and rather involves the non-canonical Wnt/planar cellpolarity (PCP) pathway (By similarity). The nuclear form mayprevent the formation of LEF1:CTNNB1 complex and recruit HDAC1 toLEF1 at target gene promoters to repress transcription thusantagonizing Wnt signaling. May be involved in positive regulationof fat cell differentiation. During neuronal differentiation maybe involved in excitatory synapse organization, and dendriteformation 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}.

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 DACT1_COL1A1


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 DACT1_COL1A1


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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RelatedDrugs for DACT1_COL1A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCOL1A1P02452DB00048Collagenase clostridium histolyticumCollagen alpha-1(I) chainbiotechapproved|investigational
TgeneCOL1A1P02452DB13133Von Willebrand Factor HumanCollagen alpha-1(I) chainbiotechapproved|investigational

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RelatedDiseases for DACT1_COL1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDACT1C3891448NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO1UNIPROT
TgeneCOL1A1C0268358Osteogenesis imperfecta, dominant perinatal lethal39CTD_human;ORPHANET;UNIPROT
TgeneCOL1A1C0268362Osteogenesis imperfecta type III (disorder)18CTD_human;ORPHANET;UNIPROT
TgeneCOL1A1C0268363Osteogenesis imperfecta type IV (disorder)14CTD_human;ORPHANET;UNIPROT
TgeneCOL1A1C0023931Lobstein's Disease12ORPHANET;UNIPROT
TgeneCOL1A1C0023890Liver Cirrhosis4CTD_human
TgeneCOL1A1C0023893Liver Cirrhosis, Experimental3CTD_human
TgeneCOL1A1C4225429Ehlers-Danlos syndrome classic type2UNIPROT
TgeneCOL1A1C0000786Spontaneous abortion1CTD_human
TgeneCOL1A1C0002949Aneurysm, Dissecting1CTD_human
TgeneCOL1A1C0003504Aortic Valve Insufficiency1CTD_human
TgeneCOL1A1C0004364Autoimmune Diseases1CTD_human
TgeneCOL1A1C0006663Calcinosis1CTD_human
TgeneCOL1A1C0008311Cholangitis1CTD_human
TgeneCOL1A1C0016059Fibrosis1CTD_human
TgeneCOL1A1C0018824Heart valve disease1CTD_human
TgeneCOL1A1C0020497Cortical Congenital Hyperostosis1CTD_human;ORPHANET;UNIPROT
TgeneCOL1A1C0020538Hypertensive disease1CTD_human
TgeneCOL1A1C0022548Keloid1CTD_human
TgeneCOL1A1C0027726Nephrotic Syndrome1CTD_human
TgeneCOL1A1C0029172Oral Submucous Fibrosis1CTD_human
TgeneCOL1A1C0029434Osteogenesis Imperfecta1CTD_human
TgeneCOL1A1C0149721Left Ventricular Hypertrophy1CTD_human
TgeneCOL1A1C1619692Nephrogenic Fibrosing Dermopathy1CTD_human