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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: 7674

FusionGeneSummary for CNN2_COA1

check button Fusion gene summary
Fusion gene informationFusion gene name: CNN2_COA1
Fusion gene ID: 7674
HgeneTgene
Gene symbol

CNN2

COA1

Gene ID

1265

55744

Gene namecalponin 2cytochrome c oxidase assembly factor 1 homolog
Synonyms-C7orf44|MITRAC15
Cytomap

19p13.3

7p13

Type of geneprotein-codingprotein-coding
Descriptioncalponin-2calponin H2, smooth muscleneutral calponincytochrome c oxidase assembly factor 1 homologcytochrome c oxidase assembly protein 1 homologmitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa
Modification date2018052220180519
UniProtAcc

Q99439

Q9GZY4

Ensembl transtripts involved in fusion geneENST00000263097, ENST00000606983, 
ENST00000348419, ENST00000565096, 
ENST00000562958, 
ENST00000488813, 
ENST00000395879, ENST00000395880, 
ENST00000310564, ENST00000223336, 
Fusion gene scores* DoF score8 X 8 X 5=3203 X 3 X 3=27
# samples 83
** MAII scorelog2(8/320*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CNN2 [Title/Abstract] AND COA1 [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
HgeneCNN2

GO:0032970

regulation of actin filament-based process

16236705

HgeneCNN2

GO:0071260

cellular response to mechanical stimulus

16236705


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
ChiTaRS3.1DB333918CNN2chr19

1038776

-COA1chr7

43678423

+
* 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
3UTR-intronENST00000263097ENST00000488813CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000263097ENST00000395879CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000263097ENST00000395880CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000263097ENST00000310564CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000263097ENST00000223336CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000606983ENST00000488813CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000606983ENST00000395879CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000606983ENST00000395880CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000606983ENST00000310564CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000606983ENST00000223336CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000348419ENST00000488813CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000348419ENST00000395879CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000348419ENST00000395880CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000348419ENST00000310564CNN2chr19

1038776

-COA1chr7

43678423

+
3UTR-intronENST00000348419ENST00000223336CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000565096ENST00000488813CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000565096ENST00000395879CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000565096ENST00000395880CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000565096ENST00000310564CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000565096ENST00000223336CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000562958ENST00000488813CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000562958ENST00000395879CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000562958ENST00000395880CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000562958ENST00000310564CNN2chr19

1038776

-COA1chr7

43678423

+
intron-intronENST00000562958ENST00000223336CNN2chr19

1038776

-COA1chr7

43678423

+

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FusionProtFeatures for CNN2_COA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNN2

Q99439

COA1

Q9GZY4

Thin filament-associated protein that is implicated inthe regulation and modulation of smooth muscle contraction. It iscapable of binding to actin, calmodulin, troponin C andtropomyosin. The interaction of calponin with actin inhibits theactomyosin Mg-ATPase activity. Component of the MITRAC (mitochondrial translationregulation assembly intermediate of cytochrome c oxidase complex)complex, that regulates cytochrome c oxidase assembly. MITRACcomplexes regulate both translation of mitochondrial encodedcomponents and assembly of nuclear-encoded components imported inmitochondrion. Required for assembly of mitochondrial respiratorychain complex I and complex IV. {ECO:0000269|PubMed:23260140}.

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 CNN2_COA1


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 CNN2_COA1


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 CNN2_COA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CNN2_COA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCNN2C0007134Renal Cell Carcinoma1CTD_human