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Fusion gene ID: 7539 |
FusionGeneSummary for CLTC_OTOP3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CLTC_OTOP3 | Fusion gene ID: 7539 | Hgene | Tgene | Gene symbol | CLTC | OTOP3 | Gene ID | 1213 | 347741 |
| Gene name | clathrin heavy chain | otopetrin 3 | |
| Synonyms | CHC|CHC17|CLH-17|CLTCL2|Hc|MRD56 | - | |
| Cytomap | 17q23.1 | 17q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | clathrin heavy chain 1clathrin heavy chain on chromosome 17clathrin, heavy polypeptide (Hc)clathrin, heavy polypeptide-like 2 | proton channel OTOP3otopetrin-3 | |
| Modification date | 20180523 | 20180409 | |
| UniProtAcc | Q00610 | Q7RTS5 | |
| Ensembl transtripts involved in fusion gene | ENST00000393043, ENST00000269122, ENST00000579456, ENST00000579815, | ENST00000328801, | |
| Fusion gene scores | * DoF score | 14 X 8 X 8=896 | 1 X 1 X 1=1 |
| # samples | 14 | 1 | |
| ** MAII score | log2(14/896*10)=-2.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CLTC [Title/Abstract] AND OTOP3 [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 |
| Hgene | CLTC | GO:1900126 | negative regulation of hyaluronan biosynthetic process | 24251095 |
| 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 | LD | BRCA | TCGA-EW-A1J1-01A | CLTC | chr17 | 57761117 | + | OTOP3 | chr17 | 72942756 | + |
| * 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 | ENST00000393043 | ENST00000328801 | CLTC | chr17 | 57761117 | + | OTOP3 | chr17 | 72942756 | + |
| Frame-shift | ENST00000269122 | ENST00000328801 | CLTC | chr17 | 57761117 | + | OTOP3 | chr17 | 72942756 | + |
| Frame-shift | ENST00000579456 | ENST00000328801 | CLTC | chr17 | 57761117 | + | OTOP3 | chr17 | 72942756 | + |
| intron-3CDS | ENST00000579815 | ENST00000328801 | CLTC | chr17 | 57761117 | + | OTOP3 | chr17 | 72942756 | + |
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FusionProtFeatures for CLTC_OTOP3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CLTC | OTOP3 |
| Clathrin is the major protein of the polyhedral coat ofcoated pits and vesicles. Two different adapter protein complexeslink the clathrin lattice either to the plasma membrane or to thetrans-Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization ofkinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737,PubMed:21297582). The TACC3/ch-TOG/clathrin complex is requiredfor the maintenance of kinetochore fiber tension(PubMed:23532825). Plays a role in early autophagosome formation(PubMed:20639872). {ECO:0000269|PubMed:15858577,ECO:0000269|PubMed:16968737, ECO:0000269|PubMed:20639872,ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:23532825}. | Proton-selective channel that specifically transportsprotons into cells. Proton-selective channel activity is probablyrequired in cell types that use changes in intracellular pH forcell signaling or to regulate biochemical or developmentalprocesses. {ECO:0000250|UniProtKB:Q80UF9}. |
| 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 CLTC_OTOP3 |
| 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 CLTC_OTOP3 |
| 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 |
| CLTC | HGS, MCC, IKBKE, TFE3, SNX5, TOM1, SNX9, DNAJC6, ARMCX3, C10orf88, EPN1, EHD1, GGA1, GGA2, GGA3, KIT, AMPH, CLINT1, TNK2, LDLRAP1, HIP1, AP1B1, AP2A2, AP3B2, MAP3K10, PICALM, EPN2, VCL, STAMBP, STAMBPL1, STAM, MAP1LC3A, SNCA, PRKACA, WNK1, HDAC5, SPG20, RICTOR, PCM1, NDRG1, PPP1CA, ITSN1, ARRB1, SIRT7, SH3KBP1, DYRK1A, SNAP91, AP2B1, BIN1, AP1G1, RAC1, TOM1L1, TOM1L2, ISG15, CUL3, CUL5, CUL2, CDK2, CUL1, COPS5, DCUN1D1, CAND1, NEDD8, XRCC6, HERC1, ATG16L1, SYNJ1, LRRK2, AKT1, GRB2, SHC1, AP2M1, MYO6, SRC, FYN, DNAJA3, RPSA, ESR1, PAXIP1, PPP1CC, SMURF1, ARRB2, ERBB2, FN1, VCAM1, DAB2, UBL4A, ITGA4, MYBL2, SVIL, PAN2, NPM1, PTAFR, ATP4A, EP300, QARS, YWHAQ, FBXO6, RPA1, RPA2, RPA3, ERG, EPHA2, LGR4, STAU1, TP53, HUWE1, FBXW11, GJB5, NXF1, ADRB2, AVPR2, CUL7, OBSL1, CCDC8, EED, ZFYVE9, OCRL, ATR, SCYL2, HTR6, HNRNPA1, UNK, ATP1A1, ATP1A2, ATP1A3, ATP5C1, CCDC47, CCT3, CCT6A, BLOC1S1, CAD, CANX, CCT6B, CISD1, CLTA, CYC1, DHX38, EHD2, FASTKD2, HSP90B1, IPO5, MTCH2, NDUFB9, NDUFS1, NLRP1, RAB5B, RANBP2, RANBP6, SLC25A3, SSR3, TECR, TOMM22, UQCRC2, VDAC1, VDAC2, VDAC3, ZMPSTE24, DDOST, EIF6, COX2, PHB, PHB2, PPP2R1A, PPP2R1B, RPN1, TMCO1, TUFM, UQCRQ, NTRK1, OFD1, CEP97, CNTRL, FBF1, NPHP1, DCTN1, POC5, POC1B, PPME1, ABCA2, PARP4, AP2A1, ATP6V1B2, ATP6V0A1, CAV1, CLTB, CAPZA2, DBN1, FLNA, GAK, MYH9, DNAJC7, IQGAP1, PDLIM7, SEC16A, SYNPO, MAPRE1, LIMA1, GTSE1, ANLN, MYO19, ARX, MYO18A, CSNK1A1, CSNK1E, STOM, EPS15, HSPA1A, HSPA4, NDUFA9, CHMP1A, PIK3C2A, PRKAR2A, SEC13, SOAT1, CLTCL1, SORBS2, PKP4, USO1, NUMB, TNK1, RAB11A, HIP1R, ATP6V0D1, XPR1, SEC24C, KIAA0430, IST1, HELZ, MVP, TROAP, SEC24B, RBM14, SEC23A, VTI1B, TRAFD1, PKP3, AAK1, BTBD3, TNRC6B, EDC4, DSTYK, PTPN23, NECAP1, TNRC6A, EHD4, EGFL7, ATP6V1D, PTRH2, PLEKHA5, CPVL, BMP2K, DCP1A, ERBB2IP, CHMP1B, KIDINS220, MTUS1, DENND1A, CRTC3, CPSF7, EDC3, CCDC115, FAM83A, REPS1, STON2, FCHO2, CHMP4B, MITD1, CRTC2, FAM83B, FAM83H, SLC35B2, IKBKB, MAP3K7, MCM2, AP3D1, U2AF2, CDC73, ZNF746, ARF6, CYLD, LASP1, BRCA1, TES, MTF1, BRD1 | OTOP3 |
| - 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 CLTC_OTOP3 |
| 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 CLTC_OTOP3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CLTC | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
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