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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: 8080

FusionGeneSummary for COPG1_RAB7A

check button Fusion gene summary
Fusion gene informationFusion gene name: COPG1_RAB7A
Fusion gene ID: 8080
HgeneTgene
Gene symbol

COPG1

RAB7A

Gene ID

22820

7879

Gene namecoatomer protein complex subunit gamma 1RAB7A, member RAS oncogene family
SynonymsCOPGPRO2706|RAB7
Cytomap

3q21.3

3q21.3

Type of geneprotein-codingprotein-coding
Descriptioncoatomer subunit gamma-1coat protein gamma-copcoatomer protein complex, subunit gammacoatomer subunit gammagamma-1-COPgamma-1-coat proteingamma-COPgamma-coat proteinras-related protein Rab-7aRAB7, member RAS oncogene familyRas-associated protein RAB7
Modification date2018052320180527
UniProtAcc

Q9Y678

P51149

Ensembl transtripts involved in fusion geneENST00000314797, ENST00000265062, 
ENST00000482525, ENST00000485280, 
Fusion gene scores* DoF score5 X 5 X 2=5011 X 9 X 5=495
# samples 612
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/495*10)=-2.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COPG1 [Title/Abstract] AND RAB7A [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
TgeneRAB7A

GO:0022615

protein to membrane docking

24344282


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
TCGALDDLBCTCGA-VB-A8QN-01ACOPG1chr3

128987463

+RAB7Achr3

128514203

+
* 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-5UTRENST00000314797ENST00000265062COPG1chr3

128987463

+RAB7Achr3

128514203

+
5CDS-5UTRENST00000314797ENST00000482525COPG1chr3

128987463

+RAB7Achr3

128514203

+
5CDS-5UTRENST00000314797ENST00000485280COPG1chr3

128987463

+RAB7Achr3

128514203

+

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FusionProtFeatures for COPG1_RAB7A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COPG1

Q9Y678

RAB7A

P51149

The coatomer is a cytosolic protein complex that bindsto dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosyntheticprotein transport from the ER, via the Golgi up to the trans Golginetwork. Coatomer complex is required for budding from Golgimembranes, and is essential for the retrograde Golgi-to-ERtransport of dilysine-tagged proteins. In mammals, the coatomercan only be recruited by membranes associated to ADP-ribosylationfactors (ARFs), which are small GTP-binding proteins; the complexalso influences the Golgi structural integrity, as well as theprocessing, activity, and endocytic recycling of LDL receptors.Required for limiting lipid storage in lipid droplets. Involved inlipid homeostasis by regulating the presence of perilipin familymembers PLIN2 and PLIN3 at the lipid droplet surface and promotingthe association of adipocyte triglyceride lipase (PNPLA2) with thelipid droplet surface to mediate lipolysis (By similarity).{ECO:0000250, ECO:0000269|PubMed:20674546}. Key regulator in endo-lysosomal trafficking. Governsearly-to-late endosomal maturation, microtubule minus-end as wellas plus-end directed endosomal migration and positioning, andendosome-lysosome transport through different protein-proteininteraction cascades. Plays a central role, not only in endosomaltraffic, but also in many other cellular and physiological events,such as growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport inthe axons of neurons and lipid metabolism. Also involved inregulation of some specialized endosomal membrane trafficking,such as maturation of melanosomes, pathogen-induced phagosomes (orvacuoles) and autophagosomes. Plays a role in the maturation andacidification of phagosomes that engulf pathogens, such asS.aureus and M.tuberculosis. Plays a role in the fusion ofphagosomes with lysosomes. Plays important roles in microbialpathogen infection and survival, as well as in participating inthe life cycle of viruses. Microbial pathogens possess survivalstrategies governed by RAB7A, sometimes by employing RAB7Afunction (e.g. Salmonella) and sometimes by excluding RAB7Afunction (e.g. Mycobacterium). In concert with RAC1, plays a rolein regulating the formation of RBs (ruffled borders) inosteoclasts. Controls the endosomal trafficking and neuriteoutgrowth signaling of NTRK1/TRKA (PubMed:11179213,PubMed:12944476, PubMed:14617358, PubMed:20028791,PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved inthe ADRB2-stimulated lipolysis through lipophagy, a cytosoliclipase-independent autophagic pathway (By similarity). Requiredfor the exosomal release of SDCBP, CD63 and syndecan(PubMed:22660413). {ECO:0000250|UniProtKB:P51150,ECO:0000269|PubMed:11179213, ECO:0000269|PubMed:12944476,ECO:0000269|PubMed:14617358, ECO:0000269|PubMed:20028791,ECO:0000269|PubMed:22660413}.

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 COPG1_RAB7A


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 COPG1_RAB7A


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
COPG1COPB1, COPG2, COPZ1, COPZ2, ILK, MAGED1, PHB2, BRF2, ARF1, COPB2, COPE, TAPBP, TAP1, HLA-A, DRD1, GBF1, KEAP1, PMS2, ATG101, MYC, H2AFX, SIRT7, SACM1L, TMED10, COPA, COPG1, ARCN1, FN1, NPM1, PPBP, ARHGEF10, TLE3, DDB2, RABGAP1, RUFY1, TCP1, TELO2, TTI1, NUDCD1, HUWE1, RNF2, CD74, KCNJ10, PRKCSH, GLRA2, AP3D1, CCAR2, SF3B1, SF3B2, SMC3, GCN1L1, SF3B3, NTRK1, HERC2, TMEM17, TMEM216, XPO1, FOXB1, FOXS1, MCM2, SNW1, CDC5L, SENP3, RNF126, POU5F1, FAM204A, ERGIC2, ATL2, ERGIC3, FGFRL1, CCDC107, WBP2, SOD1, FOXA1, BRCA1, TESRAB7AEIF1B, CHM, RILP, RHEB, RAB17, RAB4A, RAB4B, RAB5A, RAB5B, RAB6A, RAB22A, PSMA7, UCHL5, PPP2R1A, PPP2R1B, ZFYVE28, ELAVL1, SLC2A4, KCNN4, RNF115, ATP13A2, RAB1A, RAB11A, RAB8A, RAB11B, EEF1A1, HNRNPK, EIF4G2, HSPA5, CORO1C, VCP, FN1, ATF2, BAG3, LGALS3, RPA1, RPA2, RPA3, FUS, KRTAP10-9, KRTAP10-3, CUL7, EED, UBAC2, FAF2, SNX3, VPS26A, VPS35, VPS29, VPS11, VPS16, VPS18, VPS39, VPS41, ANXA2, ARL8B, ATP5O, HSP90B1, HSPA9, MECR, RAB2A, RAB5C, APRT, DHRS7B, GDI2, HNRNPA3, MSI2, NUTF2, PDHA1, RAB10, RAB1B, RAP1A, RAP1B, SDHB, SLC25A3, UBE2V1, TMEM189-UBE2V1, RAB8B, TCTN2, TCTN3, CNTRL, FBF1, TMEM17, TMEM216, ABCD1, RHOG, ATP2A2, ATP2B1, ATP6V1B2, ATP6V0A1, ATP6AP1, CAV1, CFL1, AP2M1, CPM, CPT1A, STOM, FLOT2, GNB2, JUP, KTN1, NDUFA7, NDUFA8, NDUFB4, NDUFB7, NDUFB8, NDUFS1, NDUFS6, NDUFV2, PC, CHMP1A, PHB, ABCD3, RPN2, SOAT1, SSFA2, TFRC, VDAC1, VDAC2, GDI1, OAZ1, ATP6AP2, LAP3, GTSE1, GPRC5A, ATP6V0D1, XPR1, ABCG2, ATP6V1G1, MLEC, PIEZO1, IST1, LRPPRC, FLOT1, ERLIN1, CKAP4, IMMT, ERLIN2, PHB2, CHMP2B, MYOF, UQCRQ, CHMP2A, STOML2, TRPM7, CHCHD3, MUC13, KIDINS220, MBOAT7, TMEM43, CYBRD1, YIPF5, TMUB1, CHCHD6, CCDC115, MCU, PRKCDBP, CHMP4B, STT3B, PTRF, C6orf120, LRRK2, PARK2, NOTCH1, U2AF2, TSG101, CHMP5, COX15, DLST, TRIM25, TP53


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 COPG1_RAB7A


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 COPG1_RAB7A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOPG1C0345967Malignant mesothelioma1CTD_human
TgeneRAB7AC0151744Myocardial Ischemia1CTD_human
TgeneRAB7AC1833219CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)1CTD_human;ORPHANET;UNIPROT