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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: 7888

FusionGeneSummary for COL1A1_USP6

check button Fusion gene summary
Fusion gene informationFusion gene name: COL1A1_USP6
Fusion gene ID: 7888
HgeneTgene
Gene symbol

COL1A1

USP6

Gene ID

1277

9098

Gene namecollagen type I alpha 1 chainubiquitin specific peptidase 6
SynonymsEDSARTH1|EDSC|OI1|OI2|OI3|OI4HRP1|TRE17|TRE2|TRESMCR|Tre-2|USP6-short
Cytomap

17q21.33

17p13.2

Type of geneprotein-codingprotein-coding
Descriptioncollagen 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 proubiquitin carboxyl-terminal hydrolase 6TBC1D3 and USP32 fusiondeubiquitinating enzyme 6hyperpolymorphic gene 1proto-oncogene TRE-2ubiquitin specific peptidase 6 (Tre-2 oncogene)ubiquitin specific protease 6 (Tre-2 oncogene)ubiquitin thioesterase 6
Modification date2018052720180523
UniProtAcc

P02452

P35125

Ensembl transtripts involved in fusion geneENST00000225964, ENST00000332776, 
ENST00000574788, ENST00000304328, 
ENST00000250066, ENST00000572429, 
Fusion gene scores* DoF score28 X 47 X 4=52646 X 5 X 1=30
# samples 5212
** MAII scorelog2(52/5264*10)=-3.33957596070679
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/30*10)=2
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: COL1A1 [Title/Abstract] AND USP6 [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
HgeneCOL1A1

GO:0010718

positive regulation of epithelial to mesenchymal transition

20018240

HgeneCOL1A1

GO:0030335

positive regulation of cell migration

20018240

HgeneCOL1A1

GO:0034504

protein localization to nucleus

20018240

HgeneCOL1A1

GO:0045893

positive regulation of transcription, DNA-templated

20018240

HgeneCOL1A1

GO:0090263

positive regulation of canonical Wnt signaling pathway

20018240

TgeneUSP6

GO:0016579

protein deubiquitination

16127172

TgeneUSP6

GO:0060627

regulation of vesicle-mediated transport

15509780


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
ChiTaRS3.1AY624558COL1A1chr17

48278771

-USP6chr17

5033231

+
* 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
5CDS-5UTRENST00000225964ENST00000332776COL1A1chr17

48278771

-USP6chr17

5033231

+
5CDS-5UTRENST00000225964ENST00000574788COL1A1chr17

48278771

-USP6chr17

5033231

+
5CDS-5UTRENST00000225964ENST00000304328COL1A1chr17

48278771

-USP6chr17

5033231

+
5CDS-5UTRENST00000225964ENST00000250066COL1A1chr17

48278771

-USP6chr17

5033231

+
5CDS-intronENST00000225964ENST00000572429COL1A1chr17

48278771

-USP6chr17

5033231

+

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FusionProtFeatures for COL1A1_USP6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL1A1

P02452

USP6

P35125

Deubiquitinase with an ATP-independent isopeptidaseactivity, cleaving at the C-terminus of the ubiquitin moiety.Catalyzes its own deubiquitination. In vitro, isoform 2, but notisoform 3, shows deubiquitinating activity. Promotes plasmamembrane localization of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiatetumorigenesis by inducing the production of matrixmetalloproteinases following NF-kappa-B activation.{ECO:0000269|PubMed:15509780, ECO:0000269|PubMed:16127172,ECO:0000269|PubMed:20418905}.

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 COL1A1_USP6


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 COL1A1_USP6


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
COL1A1IGFBP3, TXN, ITGA2, ITGB1, NID1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1USP6USP32, CALM2, RAC1, CDC42, RAB33B, ARF6, MYL2, ANKRD44, ATXN7L3, APP, MDFI, EXOSC8, KRAS, JUN


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 COL1A1_USP6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOL1A1P02452DB00048Collagenase clostridium histolyticumCollagen alpha-1(I) chainbiotechapproved|investigational
HgeneCOL1A1P02452DB13133Von Willebrand Factor HumanCollagen alpha-1(I) chainbiotechapproved|investigational

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RelatedDiseases for COL1A1_USP6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL1A1C0268358Osteogenesis imperfecta, dominant perinatal lethal39CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0268362Osteogenesis imperfecta type III (disorder)18CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0268363Osteogenesis imperfecta type IV (disorder)14CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0023931Lobstein's Disease12ORPHANET;UNIPROT
HgeneCOL1A1C0023890Liver Cirrhosis4CTD_human
HgeneCOL1A1C0023893Liver Cirrhosis, Experimental3CTD_human
HgeneCOL1A1C4225429Ehlers-Danlos syndrome classic type2UNIPROT
HgeneCOL1A1C0000786Spontaneous abortion1CTD_human
HgeneCOL1A1C0002949Aneurysm, Dissecting1CTD_human
HgeneCOL1A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL1A1C0004364Autoimmune Diseases1CTD_human
HgeneCOL1A1C0006663Calcinosis1CTD_human
HgeneCOL1A1C0008311Cholangitis1CTD_human
HgeneCOL1A1C0016059Fibrosis1CTD_human
HgeneCOL1A1C0018824Heart valve disease1CTD_human
HgeneCOL1A1C0020497Cortical Congenital Hyperostosis1CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0020538Hypertensive disease1CTD_human
HgeneCOL1A1C0022548Keloid1CTD_human
HgeneCOL1A1C0027726Nephrotic Syndrome1CTD_human
HgeneCOL1A1C0029172Oral Submucous Fibrosis1CTD_human
HgeneCOL1A1C0029434Osteogenesis Imperfecta1CTD_human
HgeneCOL1A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL1A1C1619692Nephrogenic Fibrosing Dermopathy1CTD_human