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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: 2012

FusionGeneSummary for AOC1_COL4A2

check button Fusion gene summary
Fusion gene informationFusion gene name: AOC1_COL4A2
Fusion gene ID: 2012
HgeneTgene
Gene symbol

AOC1

COL4A2

Gene ID

26

1284

Gene nameamine oxidase, copper containing 1collagen type IV alpha 2 chain
SynonymsABP|ABP1|DAO|DAO1|KAOICH|POREN2
Cytomap

7q36.1

13q34

Type of geneprotein-codingprotein-coding
Descriptionamiloride-sensitive amine oxidase [copper-containing]amiloride binding protein 1 (amine oxidase (copper-containing))amiloride-binding protein 1amiloride-sensitive amine oxidaseamine oxidase copper domain-containing protein 1diamine oxidasehistaminascollagen alpha-2(IV) chaincanstatin
Modification date2018052320180523
UniProtAcc

P19801

P08572

Ensembl transtripts involved in fusion geneENST00000493429, ENST00000467291, 
ENST00000360937, ENST00000416793, 
ENST00000480582, 
ENST00000360467, 
ENST00000462309, 
Fusion gene scores* DoF score3 X 3 X 1=96 X 6 X 3=108
# samples 35
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/108*10)=-1.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AOC1 [Title/Abstract] AND COL4A2 [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
HgeneAOC1

GO:0035874

cellular response to copper ion starvation

9399025

HgeneAOC1

GO:0042493

response to drug

8144586

HgeneAOC1

GO:0046677

response to antibiotic

7626074|19764817

HgeneAOC1

GO:0055114

oxidation-reduction process

8144586|16846222

HgeneAOC1

GO:0071280

cellular response to copper ion

9399025

HgeneAOC1

GO:0071420

cellular response to histamine

12072962

HgeneAOC1

GO:0097185

cellular response to azide

16846222

TgeneCOL4A2

GO:0016525

negative regulation of angiogenesis

10625665


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
ChiTaRS3.1BF991446AOC1chr7

150558254

+COL4A2chr13

111077137

-
* 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
Frame-shitENST00000493429ENST00000360467AOC1chr7

150558254

+COL4A2chr13

111077137

-
5CDS-intronENST00000493429ENST00000462309AOC1chr7

150558254

+COL4A2chr13

111077137

-
Frame-shitENST00000467291ENST00000360467AOC1chr7

150558254

+COL4A2chr13

111077137

-
5CDS-intronENST00000467291ENST00000462309AOC1chr7

150558254

+COL4A2chr13

111077137

-
Frame-shitENST00000360937ENST00000360467AOC1chr7

150558254

+COL4A2chr13

111077137

-
5CDS-intronENST00000360937ENST00000462309AOC1chr7

150558254

+COL4A2chr13

111077137

-
Frame-shitENST00000416793ENST00000360467AOC1chr7

150558254

+COL4A2chr13

111077137

-
5CDS-intronENST00000416793ENST00000462309AOC1chr7

150558254

+COL4A2chr13

111077137

-
3UTR-3CDSENST00000480582ENST00000360467AOC1chr7

150558254

+COL4A2chr13

111077137

-
3UTR-intronENST00000480582ENST00000462309AOC1chr7

150558254

+COL4A2chr13

111077137

-

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FusionProtFeatures for AOC1_COL4A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AOC1

P19801

COL4A2

P08572

Catalyzes the degradation of compounds such asputrescine, histamine, spermine, and spermidine, substancesinvolved in allergic and immune responses, cell proliferation,tissue differentiation, tumor formation, and possibly apoptosis.Placental DAO is thought to play a role in the regulation of thefemale reproductive function. Type IV collagen is the major structural component ofglomerular basement membranes (GBM), forming a 'chicken-wire'meshwork together with laminins, proteoglycans andentactin/nidogen. Canstatin, a cleavage product corresponding to thecollagen alpha 2(IV) NC1 domain, possesses both anti-angiogenicand anti-tumor cell activity. It inhibits proliferation andmigration of endothelial cells, reduces mitochondrial membranepotential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and activates procaspase-8 and -9 activity.Ligand for alphavbeta3 and alphavbeta5 integrins.

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 AOC1_COL4A2


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 AOC1_COL4A2


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 AOC1_COL4A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAOC1P19801DB00594AmilorideAmiloride-sensitive amine oxidase [copper-containing]small moleculeapproved
HgeneAOC1P19801DB01373CalciumAmiloride-sensitive amine oxidase [copper-containing]small moleculeapproved|nutraceutical

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RelatedDiseases for AOC1_COL4A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAOC1C0018800Cardiomegaly1CTD_human
HgeneAOC1C0020538Hypertensive disease1CTD_human
TgeneCOL4A2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL4A2C0027726Nephrotic Syndrome1CTD_human
TgeneCOL4A2C0149925Small cell carcinoma of lung1CTD_human
TgeneCOL4A2C3280970PORENCEPHALY 21UNIPROT