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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: 5107

FusionGeneSummary for C9orf3_COPS7A

check button Fusion gene summary
Fusion gene informationFusion gene name: C9orf3_COPS7A
Fusion gene ID: 5107
HgeneTgene
Gene symbol

C9orf3

COPS7A

Gene ID

84909

50813

Gene namechromosome 9 open reading frame 3COP9 signalosome subunit 7A
SynonymsAOPEP|AP-O|APO|C90RF3|ONPEPCSN7|CSN7A|SGN7a
Cytomap

9q22.32

12p13.31

Type of geneprotein-codingprotein-coding
Descriptionaminopeptidase OCOP9 signalosome complex subunit 7aCOP9 complex subunit 7aCOP9 constitutive photomorphogenic homolog subunit 7AJAB1-containing signalosome subunit 7adermal papilla-derived protein 10
Modification date2018052320180523
UniProtAcc

Q9UBW8

Ensembl transtripts involved in fusion geneENST00000277198, ENST00000297979, 
ENST00000375315, ENST00000395357, 
ENST00000425634, ENST00000433691, 
ENST00000473778, 		ENST00000543155, 
ENST00000542150, ENST00000229251, 
ENST00000539735, ENST00000538410, 
ENST00000534947, ENST00000534877, 
Fusion gene scores* DoF score12 X 11 X 7=9242 X 2 X 1=4
# samples 122
** MAII scorelog2(12/924*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: C9orf3 [Title/Abstract] AND COPS7A [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
HgeneC9orf3

GO:0006508

proteolysis

15687497

TgeneCOPS7A

GO:0000338

protein deneddylation

19141280


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
ChiTaRS3.1AA210971C9orf3chr9

97795471

-COPS7Achr12

6837092

+
* 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-3CDSENST00000277198ENST00000543155C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000277198ENST00000542150C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000277198ENST00000229251C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000277198ENST00000539735C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000277198ENST00000538410C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000277198ENST00000534947C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000277198ENST00000534877C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-3CDSENST00000297979ENST00000543155C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000297979ENST00000542150C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000297979ENST00000229251C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000297979ENST00000539735C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000297979ENST00000538410C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000297979ENST00000534947C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000297979ENST00000534877C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-3CDSENST00000375315ENST00000543155C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000375315ENST00000542150C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000375315ENST00000229251C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000375315ENST00000539735C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000375315ENST00000538410C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000375315ENST00000534947C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000375315ENST00000534877C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-3CDSENST00000395357ENST00000543155C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000395357ENST00000542150C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000395357ENST00000229251C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000395357ENST00000539735C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000395357ENST00000538410C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000395357ENST00000534947C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000395357ENST00000534877C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-3CDSENST00000425634ENST00000543155C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000425634ENST00000542150C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000425634ENST00000229251C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000425634ENST00000539735C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000425634ENST00000538410C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000425634ENST00000534947C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000425634ENST00000534877C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-3CDSENST00000433691ENST00000543155C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000433691ENST00000542150C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000433691ENST00000229251C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000433691ENST00000539735C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000433691ENST00000538410C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000433691ENST00000534947C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000433691ENST00000534877C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-3CDSENST00000473778ENST00000543155C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000473778ENST00000542150C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000473778ENST00000229251C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000473778ENST00000539735C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000473778ENST00000538410C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000473778ENST00000534947C9orf3chr9

97795471

-COPS7Achr12

6837092

+
intron-intronENST00000473778ENST00000534877C9orf3chr9

97795471

-COPS7Achr12

6837092

+

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FusionProtFeatures for C9orf3_COPS7A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C9orf3

COPS7A

Q9UBW8

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Component of the COP9 signalosome complex (CSN), acomplex involved in various cellular and developmental processes.The CSN complex is an essential regulator of the ubiquitin (Ubl)conjugation pathway by mediating the deneddylation of the cullinsubunits of SCF-type E3 ligase complexes, leading to decrease theUbl ligase activity of SCF-type complexes such as SCF, CSA orDDB2. The complex is also involved in phosphorylation of p53/TP53,JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly viaits association with CK2 and PKD kinases. CSN-dependentphosphorylation of TP53 and JUN promotes and protects degradationby the Ubl system, respectively. {ECO:0000269|PubMed:11285227,ECO:0000269|PubMed:11337588, ECO:0000269|PubMed:12628923,ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:9535219}.

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 C9orf3_COPS7A


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 C9orf3_COPS7A


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 C9orf3_COPS7A


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 C9orf3_COPS7A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC9orf3C0004238Atrial Fibrillation1CTD_human
HgeneC9orf3C0032927Precancerous Conditions1CTD_human
HgeneC9orf3C3495559Juvenile arthritis1CTD_human
TgeneCOPS7AC0038356Stomach Neoplasms1CTD_human