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Fusion gene ID: 19298 |
FusionGeneSummary for KSR2_CEP290 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KSR2_CEP290 | Fusion gene ID: 19298 | Hgene | Tgene | Gene symbol | KSR2 | CEP290 | Gene ID | 283455 | 80184 |
| Gene name | kinase suppressor of ras 2 | centrosomal protein 290 | |
| Synonyms | - | 3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16 | |
| Cytomap | 12q24.22-q24.23 | 12q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kinase suppressor of Ras 2 | centrosomal 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 c | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q6VAB6 | O15078 | |
| Ensembl transtripts involved in fusion gene | ENST00000425217, ENST00000339824, ENST00000302438, ENST00000545002, | ENST00000547691, ENST00000552810, ENST00000397838, ENST00000309041, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 5 X 5 X 3=75 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KSR2 [Title/Abstract] AND CEP290 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | CEP290 | GO:0045893 | positive regulation of transcription, DNA-templated | 16682973 |
| Tgene | CEP290 | GO:0060271 | cilium assembly | 26386044 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | SARC | TCGA-3B-A9HO-01A | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000425217 | ENST00000547691 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| Frame-shift | ENST00000425217 | ENST00000552810 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| Frame-shift | ENST00000425217 | ENST00000397838 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| Frame-shift | ENST00000425217 | ENST00000309041 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| Frame-shift | ENST00000339824 | ENST00000547691 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| Frame-shift | ENST00000339824 | ENST00000552810 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| Frame-shift | ENST00000339824 | ENST00000397838 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| Frame-shift | ENST00000339824 | ENST00000309041 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| intron-3CDS | ENST00000302438 | ENST00000547691 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| intron-3CDS | ENST00000302438 | ENST00000552810 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| intron-3CDS | ENST00000302438 | ENST00000397838 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| intron-3CDS | ENST00000302438 | ENST00000309041 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| intron-3CDS | ENST00000545002 | ENST00000547691 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| intron-3CDS | ENST00000545002 | ENST00000552810 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| intron-3CDS | ENST00000545002 | ENST00000397838 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
| intron-3CDS | ENST00000545002 | ENST00000309041 | KSR2 | chr12 | 118198816 | - | CEP290 | chr12 | 88444210 | - |
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FusionProtFeatures for KSR2_CEP290 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KSR2 | CEP290 |
| Location-regulated scaffold connecting MEK to RAF. Hasvery low protein kinase activity and can phosphorylate MAP2K1 atseveral Ser and Thr residues with very low efficiency (in vitro).Interaction with BRAF enhances KSR2-mediated phosphorylation ofMAP2K1 (in vitro). Blocks MAP3K8 kinase activity and MAP3K8-mediated signaling. Acts as a negative regulator of MAP3K3-mediated activation of ERK, JNK and NF-kappa-B pathways,inhibiting MAP3K3-mediated interleukin-8 production.{ECO:0000269|PubMed:12975377, ECO:0000269|PubMed:16039990,ECO:0000269|PubMed:21441910}. | 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for KSR2_CEP290 |
| 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 KSR2_CEP290 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| KSR2 | MAP2K1, MAP3K8, COPS6, HSP90AA1 | CEP290 | MAPK10, 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, CALM1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for KSR2_CEP290 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for KSR2_CEP290 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CEP290 | C1857780 | JOUBERT SYNDROME 5 | 3 | CTD_human;UNIPROT |
| Tgene | CEP290 | C0752166 | Bardet-Biedl Syndrome | 1 | CTD_human;ORPHANET |
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