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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: 6815

FusionGeneSummary for CEP290_FGGY

check button Fusion gene summary
Fusion gene informationFusion gene name: CEP290_FGGY
Fusion gene ID: 6815
HgeneTgene
Gene symbol

CEP290

FGGY

Gene ID

80184

55277

Gene namecentrosomal protein 290FGGY carbohydrate kinase domain containing
Synonyms3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16-
Cytomap

12q21.32

1p32.1

Type of geneprotein-codingprotein-coding
Descriptioncentrosomal protein of 290 kDaBardet-Biedl syndrome 14 proteinCTCL tumor antigen se2-2Meckel syndrome, type 4POC3 centriolar protein homologcancer/testis antigen 87centrosomal protein 290kDamonoclonal antibody 3H11 antigennephrocytsin-6prostate cFGGY carbohydrate kinase domain-containing proteinD-ribulokinase
Modification date2018051920180519
UniProtAcc

O15078

Q96C11

Ensembl transtripts involved in fusion geneENST00000547691, ENST00000552810, 
ENST00000397838, ENST00000309041, 
ENST00000474476, ENST00000371218, 
ENST00000303721, ENST00000371212, 
ENST00000371210, 
Fusion gene scores* DoF score2 X 2 X 1=413 X 9 X 9=1053
# samples 214
** MAII scorelog2(2/4*10)=2.32192809488736log2(14/1053*10)=-2.91100670408075
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CEP290 [Title/Abstract] AND FGGY [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
HgeneCEP290

GO:0045893

positive regulation of transcription, DNA-templated

16682973

HgeneCEP290

GO:0060271

cilium assembly

26386044

TgeneFGGY

GO:0019321

pentose metabolic process

27909055

TgeneFGGY

GO:0046835

carbohydrate phosphorylation

27909055


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
TCGARVSARCTCGA-WK-A8XO-01ACEP290chr12

88482809

-FGGYchr1

60091660

+
* 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-3UTRENST00000547691ENST00000474476CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000547691ENST00000371218CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000547691ENST00000303721CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000547691ENST00000371212CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000547691ENST00000371210CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000552810ENST00000474476CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000552810ENST00000371218CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000552810ENST00000303721CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000552810ENST00000371212CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000552810ENST00000371210CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000397838ENST00000474476CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000397838ENST00000371218CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000397838ENST00000303721CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000397838ENST00000371212CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000397838ENST00000371210CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000309041ENST00000474476CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000309041ENST00000371218CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000309041ENST00000303721CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000309041ENST00000371212CEP290chr12

88482809

-FGGYchr1

60091660

+
5CDS-3UTRENST00000309041ENST00000371210CEP290chr12

88482809

-FGGYchr1

60091660

+

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FusionProtFeatures for CEP290_FGGY


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CEP290

O15078

FGGY

Q96C11

Involved in early and late steps in cilia formation. Itsassociation with CCP110 is required for inhibition of primarycilia formation by CCP110 (PubMed:18694559). May play a role inearly ciliogenesis in the disappearance of centriolar satellitesand in the transition of primary ciliar vesicles (PCVs) to cappedciliary vesicles (CCVs). Required for the centrosomal recruitmentof RAB8A and for the targeting of centriole satellite proteins tocentrosomes such as of PCM1 (PubMed:24421332). Required for thecorrect localization of ciliary and phototransduction proteins inretinal photoreceptor cells; may play a role in ciliary transportprocesses (By similarity). Required for efficient recruitment ofRAB8A to primary cilium (PubMed:17705300). In the ciliarytransition zone is part of the tectonic-like complex which isrequired for tissue-specific ciliogenesis and may regulate ciliarymembrane composition (By similarity). Involved in regulation ofthe BBSome complex integrity, specifically for presence of BBS2,BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting ofselected BBSome cargos. May play a role in controlling entry ofthe BBSome complex to cilia possibly implicating IQCB1/NPHP5(PubMed:25552655). Activates ATF4-mediated transcription(PubMed:16682973). {ECO:0000250|UniProtKB:Q6A078,ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:17705300,ECO:0000269|PubMed:18694559, ECO:0000269|PubMed:24421332,ECO:0000269|PubMed:25552655}.

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 CEP290_FGGY


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 CEP290_FGGY


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
CEP290MAPK10, CCP110, CEP76, CEP97, NEURL4, IQCB1, ZNF423, ESR1, CDKN1A, CEP57, C9orf16, CCDC8, PEG10, DTNBP1, MCM7, MED4, CEP170, FGFR1OP, OFD1, CEP131, CCDC138, CEP72, FKBP4, HERC2, CEP162, MIB1, PTPRR, PCNT, PIBF1, SSX2IP, CCDC77, CSNK1E, ECH1, SREK1, SUPT5H, LDHA, TARDBP, MAPRE1, AKAP12, EMG1, KIF7, PNMA2, SSBP1, CAND1, UBA1, PGD, USO1, CEP104, AHCY, AK2, ANP32A, ARPC3, BCAP31, C11orf49, C21orf2, CSPP1, CYB5R3, GYS1, HAUS7, HAUS8, ISOC1, KDELR2, LRRC49, LUZP1, MIF, MPHOSPH9, MTPN, NEK1, PAWR, PCM1, PLP2, PMPCB, PTGES3, RAB2A, TPGS1, WRAP73, YWHAH, CALM2, CCDC61, CEP350, CHTOP, DDX47, FOPNL, GPATCH1, HAUS1, HAUS3, HAUS4, HAUS6, HMGN1, KIAA0753, KIF14, NEDD1, NME7, TCHP, TBC1D31, WDR83, CEP128, LGALS3BP, CEP135, CCDC14, HYPK, CDC14A, TPTE2, LZTS2, CALM1FGGYEAF1, NSFL1C


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 CEP290_FGGY


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 CEP290_FGGY


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCEP290C1857780JOUBERT SYNDROME 53CTD_human;UNIPROT
HgeneCEP290C0752166Bardet-Biedl Syndrome1CTD_human;ORPHANET