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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: 7932

FusionGeneSummary for COL3A1_CLU

check button Fusion gene summary
Fusion gene informationFusion gene name: COL3A1_CLU
Fusion gene ID: 7932
HgeneTgene
Gene symbol

COL3A1

CLU

Gene ID

1281

1191

Gene namecollagen type III alpha 1 chainclusterin
SynonymsEDS4A|EDSVASCAAG4|APO-J|APOJ|CLI|CLU1|CLU2|KUB1|NA1/NA2|SGP-2|SGP2|SP-40|TRPM-2|TRPM2
Cytomap

2q32.2

8p21.1

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1clusterinaging-associated protein 4apolipoprotein Jcomplement cytolysis inhibitorcomplement lysis inhibitorcomplement-associated protein SP-40,40ku70-binding protein 1sulfated glycoprotein 2testosterone-repressed prostate message 2
Modification date2018052320180527
UniProtAcc

P02461

P10909

Ensembl transtripts involved in fusion geneENST00000304636, ENST00000317840, 
ENST00000316403, ENST00000546343, 
ENST00000560366, ENST00000405140, 
ENST00000523500, 
Fusion gene scores* DoF score24 X 18 X 11=475214 X 17 X 5=1190
# samples 2918
** MAII scorelog2(29/4752*10)=-4.03441003078583
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1190*10)=-2.72489276186563
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL3A1 [Title/Abstract] AND CLU [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
HgeneCOL3A1

GO:0007160

cell-matrix adhesion

16912226

HgeneCOL3A1

GO:0007179

transforming growth factor beta receptor signaling pathway

16360482

HgeneCOL3A1

GO:0009314

response to radiation

14736764

HgeneCOL3A1

GO:0018149

peptide cross-linking

16754721

HgeneCOL3A1

GO:0034097

response to cytokine

9076960|16360482

HgeneCOL3A1

GO:0042060

wound healing

1466622

TgeneCLU

GO:0000902

cell morphogenesis

15857407

TgeneCLU

GO:0001774

microglial cell activation

15857407

TgeneCLU

GO:0017038

protein import

24446231

TgeneCLU

GO:0032463

negative regulation of protein homooligomerization

22179788|23106396

TgeneCLU

GO:0032464

positive regulation of protein homooligomerization

22179788

TgeneCLU

GO:0032760

positive regulation of tumor necrosis factor production

15857407

TgeneCLU

GO:0045429

positive regulation of nitric oxide biosynthetic process

15857407

TgeneCLU

GO:0050821

protein stabilization

11123922

TgeneCLU

GO:0051131

chaperone-mediated protein complex assembly

17412999

TgeneCLU

GO:0051788

response to misfolded protein

19996109

TgeneCLU

GO:0061077

chaperone-mediated protein folding

11123922

TgeneCLU

GO:0061518

microglial cell proliferation

15857407

TgeneCLU

GO:1900221

regulation of amyloid-beta clearance

24446231

TgeneCLU

GO:1901214

regulation of neuron death

17412999

TgeneCLU

GO:1901216

positive regulation of neuron death

15857407

TgeneCLU

GO:1902430

negative regulation of amyloid-beta formation

12047389|17412999

TgeneCLU

GO:1905907

negative regulation of amyloid fibril formation

22179788


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
ChiTaRS3.1CN367540COL3A1chr2

189876449

+CLUchr8

27462642

-
* 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
In-frameENST00000304636ENST00000316403COL3A1chr2

189876449

+CLUchr8

27462642

-
In-frameENST00000304636ENST00000546343COL3A1chr2

189876449

+CLUchr8

27462642

-
In-frameENST00000304636ENST00000560366COL3A1chr2

189876449

+CLUchr8

27462642

-
In-frameENST00000304636ENST00000405140COL3A1chr2

189876449

+CLUchr8

27462642

-
In-frameENST00000304636ENST00000523500COL3A1chr2

189876449

+CLUchr8

27462642

-
In-frameENST00000317840ENST00000316403COL3A1chr2

189876449

+CLUchr8

27462642

-
In-frameENST00000317840ENST00000546343COL3A1chr2

189876449

+CLUchr8

27462642

-
In-frameENST00000317840ENST00000560366COL3A1chr2

189876449

+CLUchr8

27462642

-
In-frameENST00000317840ENST00000405140COL3A1chr2

189876449

+CLUchr8

27462642

-
In-frameENST00000317840ENST00000523500COL3A1chr2

189876449

+CLUchr8

27462642

-

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FusionProtFeatures for COL3A1_CLU


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL3A1

P02461

CLU

P10909

Isoform 1 functions as extracellular chaperone thatprevents aggregation of nonnative proteins. Prevents stress-induced aggregation of blood plasma proteins. Inhibits formationof amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA andaggregation-prone LYZ variants (in vitro). Does not require ATP.Maintains partially unfolded proteins in a state appropriate forsubsequent refolding by other chaperones, such as HSPA8/HSC70.Does not refold proteins by itself. Binding to cell surfacereceptors triggers internalization of the chaperone-client complexand subsequent lysosomal or proteasomal degradation. Secretedisoform 1 protects cells against apoptosis and against cytolysisby complement. Intracellular isoforms interact with ubiquitin andSCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligasecomplexes and promote the ubiquitination and subsequentproteasomal degradation of target proteins. Promotes proteasomaldegradation of COMMD1 and IKBKB. Modulates NF-kappa-Btranscriptional activity. Nuclear isoforms promote apoptosis.Mitochondrial isoforms suppress BAX-dependent release ofcytochrome c into the cytoplasm and inhibit apoptosis. Plays arole in the regulation of cell proliferation.{ECO:0000269|PubMed:11123922, ECO:0000269|PubMed:12047389,ECO:0000269|PubMed:12176985, ECO:0000269|PubMed:12551933,ECO:0000269|PubMed:12882985, ECO:0000269|PubMed:16113678,ECO:0000269|PubMed:17260971, ECO:0000269|PubMed:17407782,ECO:0000269|PubMed:17412999, ECO:0000269|PubMed:17689225,ECO:0000269|PubMed:19137541, ECO:0000269|PubMed:19535339,ECO:0000269|PubMed:19996109, ECO:0000269|PubMed:20068069,ECO:0000269|PubMed:21505792}.

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 COL3A1_CLU


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.
>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000316403_chr8_27462642_-_0aa

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000546343_chr8_27462642_-_0aa

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000560366_chr8_27462642_-_0aa

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000405140_chr8_27462642_-_0aa

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000523500_chr8_27462642_-_0aa

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000316403_chr8_27462642_-_0aa

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000546343_chr8_27462642_-_0aa

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000560366_chr8_27462642_-_0aa

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000405140_chr8_27462642_-_0aa

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000523500_chr8_27462642_-_0aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000316403_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000546343_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000560366_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000405140_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000523500_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000316403_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000546343_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000560366_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000405140_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000523500_chr8_27462642_-_0nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000316403_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000546343_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000560366_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000405140_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000304636_chr2_189876449_+_CLU_ENST00000523500_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000316403_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000546343_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000560366_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000405140_chr8_27462642_-_0nt

>In-frame_COL3A1_ENST00000317840_chr2_189876449_+_CLU_ENST00000523500_chr8_27462642_-_0nt


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FusionGenePPI for COL3A1_CLU


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 COL3A1_CLU


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOL3A1P02461DB00048Collagenase clostridium histolyticumCollagen alpha-1(III) chainbiotechapproved|investigational
TgeneCLUP10909DB01593ZincClusterinsmall moleculeapproved|investigational

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RelatedDiseases for COL3A1_CLU


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL3A1C0268338Ehlers-Danlos Syndrome, Type IV23ORPHANET;UNIPROT
HgeneCOL3A1C0023890Liver Cirrhosis5CTD_human
HgeneCOL3A1C0023893Liver Cirrhosis, Experimental2CTD_human
HgeneCOL3A1C1853365AORTIC ANEURYSM, FAMILIAL ABDOMINAL 12ORPHANET;UNIPROT
HgeneCOL3A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL3A1C0015695Fatty Liver1CTD_human
HgeneCOL3A1C0016059Fibrosis1CTD_human
HgeneCOL3A1C0020443Hypercholesterolemia1CTD_human
HgeneCOL3A1C0020456Hyperglycemia1CTD_human
HgeneCOL3A1C0020459Hyperinsulinism1CTD_human
HgeneCOL3A1C0020538Hypertensive disease1CTD_human
HgeneCOL3A1C0022548Keloid1CTD_human
HgeneCOL3A1C0023891Liver Cirrhosis, Alcoholic1CTD_human
HgeneCOL3A1C0023895Liver diseases1CTD_human
HgeneCOL3A1C0034069Pulmonary Fibrosis1CTD_human
HgeneCOL3A1C0036341Schizophrenia1CTD_human
HgeneCOL3A1C0041956Ureteral obstruction1CTD_human
HgeneCOL3A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL3A1C0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
HgeneCOL3A1C0268337Ehlers-Danlos syndrome, type 3 (disorder)1CTD_human;UNIPROT
HgeneCOL3A1C0553980Endomyocardial Fibrosis1CTD_human
HgeneCOL3A1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneCLUC2609414Acute kidney injury5CTD_human
TgeneCLUC0002395Alzheimer's Disease3CTD_human
TgeneCLUC0022658Kidney Diseases3CTD_human
TgeneCLUC0029408Degenerative polyarthritis2CTD_human
TgeneCLUC0024141Lupus Erythematosus, Systemic1CTD_human
TgeneCLUC0025202melanoma1CTD_human
TgeneCLUC0027686Pathologic Neovascularization1CTD_human
TgeneCLUC0033578Prostatic Neoplasms1CTD_human
TgeneCLUC0036341Schizophrenia1PSYGENET
TgeneCLUC0036572Seizures1CTD_human
TgeneCLUC0041755Adverse reaction to drug1CTD_human
TgeneCLUC0333641Atrophic1CTD_human
TgeneCLUC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneCLUC3495559Juvenile arthritis1CTD_human
TgeneCLUC4277682Chemical and Drug Induced Liver Injury1CTD_human