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Fusion gene ID: 27356 |
FusionGeneSummary for PKD1_UBE2I |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PKD1_UBE2I | Fusion gene ID: 27356 | Hgene | Tgene | Gene symbol | PKD1 | UBE2I | Gene ID | 5310 | 7329 |
| Gene name | polycystin 1, transient receptor potential channel interacting | ubiquitin conjugating enzyme E2 I | |
| Synonyms | PBP|PC1|Pc-1|TRPP1 | C358B7.1|P18|UBC9 | |
| Cytomap | 16p13.3 | 16p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | polycystin-1autosomal dominant polycystic kidney disease 1 proteinpolycystic kidney disease 1 (autosomal dominant)polycystic kidney disease-associated proteintransient receptor potential cation channel, subfamily P, member 1 | SUMO-conjugating enzyme UBC9RING-type E3 SUMO transferase UBC9SUMO-1-protein ligaseSUMO-protein ligaseubiquitin carrier protein 9ubiquitin carrier protein Iubiquitin conjugating enzyme 9ubiquitin conjugating enzyme E2Iubiquitin-conjugating enzyme | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P98161 | P63279 | |
| Ensembl transtripts involved in fusion gene | ENST00000423118, ENST00000262304, ENST00000561991, | ENST00000339021, ENST00000355803, ENST00000325437, ENST00000397514, ENST00000397515, ENST00000403747, ENST00000566587, ENST00000406620, ENST00000402301, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 5 X 5 X 5=125 |
| # 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(5/125*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PKD1 [Title/Abstract] AND UBE2I [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 | PKD1 | GO:0031659 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle | 16311606 |
| Hgene | PKD1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 16311606 |
| Hgene | PKD1 | GO:0048754 | branching morphogenesis of an epithelial tube | 12482949 |
| Hgene | PKD1 | GO:0061136 | regulation of proteasomal protein catabolic process | 23001567 |
| Tgene | UBE2I | GO:0016925 | protein sumoylation | 15660128|19955185|21968017 |
| Tgene | UBE2I | GO:0045892 | negative regulation of transcription, DNA-templated | 16631117 |
| Tgene | UBE2I | GO:1903755 | positive regulation of SUMO transferase activity | 19955185 |
| 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 | CESC | TCGA-C5-A2LX-01A | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| * 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 |
| 5CDS-intron | ENST00000423118 | ENST00000339021 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000355803 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000325437 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000397514 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000397515 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000403747 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000566587 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000406620 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000423118 | ENST00000402301 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000339021 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000355803 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000325437 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000397514 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000397515 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000403747 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000566587 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000406620 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5CDS-intron | ENST00000262304 | ENST00000402301 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000339021 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000355803 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000325437 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000397514 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000397515 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000403747 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000566587 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000406620 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
| 5UTR-intron | ENST00000561991 | ENST00000402301 | PKD1 | chr16 | 2155323 | - | UBE2I | chr16 | 1365655 | + |
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FusionProtFeatures for PKD1_UBE2I |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PKD1 | UBE2I |
| Involved in renal tubulogenesis (PubMed:12482949).Involved in fluid-flow mechanosensation by the primary cilium inrenal epithelium (By similarity). Acts as a regulator of ciliumlength, together with PKD2 (By similarity). The dynamic control ofcilium length is essential in the regulation ofmechanotransductive signaling (By similarity). The cilium lengthresponse creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreasesintracellular cAMP, leads to cilium shortening and thus decreasesflow-induced signaling (By similarity). May be an ion-channelregulator. Involved in adhesive protein-protein and protein-carbohydrate interactions. {ECO:0000250|UniProtKB:O08852,ECO:0000269|PubMed:12482949}. | Accepts the ubiquitin-like proteins SUMO1, SUMO2, SUMO3and SUMO4 from the UBLE1A-UBLE1B E1 complex and catalyzes theircovalent attachment to other proteins with the help of an E3ligase such as RANBP2, CBX4 and ZNF451. Can catalyze the formationof poly-SUMO chains. Necessary for sumoylation of FOXL2 and KAT5.Essential for nuclear architecture and chromosome segregation.Sumoylates p53/TP53 at 'Lys-386'. {ECO:0000269|PubMed:11451954,ECO:0000269|PubMed:15809060, ECO:0000269|PubMed:17466333,ECO:0000269|PubMed:19638400, ECO:0000269|PubMed:19744555,ECO:0000269|PubMed:20077568, ECO:0000269|PubMed:26524494,ECO:0000269|PubMed:8668529}. |
| 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 PKD1_UBE2I |
| 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 PKD1_UBE2I |
| 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 |
| PKD1 | PKD2, RGS7, FN1, COL1A1, KRT18, COL2A1, SIAH1, HDAC9, MARK2, PKD1, ATP1A1, CFTR, JADE1, PTK2, CTNNB1, GAN | UBE2I | HSF2, MITF, FMR1, BLMH, DNMT3A, CHD3, TOPORS, MAPK1IP1L, C18orf25, SATB1, DACH1, NUDCD3, IKZF1, RIPK2, PDLIM7, ZNF646, IKZF3, PHC1, CHMP4B, HGS, RAD54B, ZBED1, TRIM29, HNRNPC, ZNF451, HNRNPK, PIAS2, SMAD4, RANGAP1, SAE1, RANBP2, SUMO1, SUMO3, UBA2, PIAS1, HIPK2, TDP2, PDZK1, PPM1J, PTEN, SREBF1, SREBF2, TP73, TP53, UNC119, UCHL1, IPO13, ATF2, DNMT3B, DAXX, TRIM55, TRIM54, TRIM63, FAS, TNFRSF1A, MAP3K1, AR, TCF3, FHIT, HDAC4, UBE2K, SP100, PML, TDG, SCNN1A, ETS1, WT1, RAD51, UBE2I, RAD52, SALL1, CHUK, JUN, TOP1, GCM1, SUZ12, SIAH2, SIAH1, SUMO2, RNF10, RNF111, RAD18, RNF4, CBLC, DTX3L, DZIP3, RNF144B, LNX2, MARCH5, MGRN1, MKRN3, RC3H2, TRIM72, RNF128, TRIM23, TRIM41, BMI1, PEX10, TRIM27, RNF133, RNF185, TP53BP1, BRCA1, GOLGB1, EXOSC9, CREB1, GLUL, ZMYM2, SETDB1, CASP8AP2, HIPK3, PIAS3, SETX, SPECC1L, ATF7IP, ZNF106, HIPK1, CDCA8, HDAC7, HABP4, NCOR1, RAD54L2, HDAC5, BLM, DHX9, RUVBL1, MYB, CTBP1, MDM2, HIC1, ETV6, NCOR2, EGR2, BIRC3, BIRC7, XIAP, PELI1, HSPB1, HSPB2, RARRES3, HIST1H4A, RORB, NR1H2, HNF4A, PPARA, ANXA1, RBBP6, TSC22D3, SETD8, KCNIP3, ESR1, KAT5, SKI, MYC, MTA1, PRKAA2, CDC37, MED7, CSNK2B, DRG1, EDF1, FOS, HMGN2, HSF2BP, PSMC3, RPS6KA6, TAF10, ZNRD1, FOXL2, RWDD3, SOX4, ZEB2, STAT1, PLAGL1, GRIP1, DNM1, CLDN2, TFAP2C, TFAP2B, TFAP2A, MEF2A, HSF1, PCGF2, CDK1, MAF, ATXN7, SRSF1, USP25, MUL1, TRIM28, ZBTB16, NFATC1, SRF, CDKN2A, CDK2, BCAM, PARP1, TP63, CEBPE, FLI1, NR3C2, PRKRA, HNRNPD, PA2G4, FUS, CRABP2, CASP2, LMNA, RNF115, TRPS1, CHMP1A, PARK7, EGF, ATXN1, ZMYND11, APEX1, XPO1, THY1, SF3B4, MRPL53, NDUFA2, USP8, RBMS1, DDX1, TKT, SUGP1, SEPT7, PSMD9, NDUFA7, SARNP, XPO7, ALYREF, ELK1, NR5A2, CHFR, TRAF6, UHRF2, PRPF40A, SKIL, BHLHE40, RB1, TRIM33, CTBP2, TCF7L2, CREM, SOCS6, ZHX1, PIAS4, TAF5, TAF12, TBP, TAF1, ADAR, HDAC1, TRAF3, CARM1, WHSC1L1, JMJD6, FOXM1, RANBP9, CBS, CFTR, CACYBP, SHFM1, RBBP5, CORO2A, TAB2, CREBBP, SIRT1, CAPN2, PPARGC1A, CEBPD, XBP1, RCBTB2, CLK2, DES, FHL3, GOLGA2, KRT19, LMO2, TRIM21, RNF40, TRIM38, RFPL3, PUF60, SETBP1, UBXN1, ZBTB26, KLHL12, GMCL1P1, BEND5, ZCCHC7, HNRNPLL, EDARADD, KCTD1, SUMO1P1, ZBTB8A, HMGA1, TOP2B, TOP2A, RPL8, RPL7, RPS3A, NONO, NOP56, DDX5, RBM14, HNRNPM, SFPQ, DDX21, SND1, MATR3, NOP2, NAT10, NOL6, HNRNPU, MYBBP1A, SNRNP200, IQGAP1, PRPF8, MYH9, PRKDC, NOX5, NFKBIA, SH3KBP1, CD2AP, THRA, THRB, SOX6, SART1, AURKA, AURKB, SUPT7L, ETV1, XRCC5, CHD4, ZNF24, TSHZ2, GTF2I, CAMSAP2, TSNAX, APP, MEF2C, CTNNA1, RBM25, SYMPK, KAT6B, SEMA6A, ADD3, SSRP1, FANCM, KAT2A, COG1, STMN2, DDX24, CDH4, WNK1, TCERG1, KDM1A, HIRA, CALU, XRCC1, MECOM, TCF4, ATF3, MAP2K1, ZBTB7A, KCNA5, ARL13B, HIF1A, ZBTB1, NOP58, NR5A1, SOX9, NR3C1, PPARG, RXRA, NR1I2, BCL11A, ZNF420, ARFGAP2, HNRNPA1, UBE2D2, UBE2E1, SH3GLB1, TATDN1, TSG101, MX1, KLF5, KRAS, EP300, NVL, AGTRAP, RHOXF2, NMI, TRIP13, RCC1, KPNB1, NUP98, RAN, NUP153, NUP107, NUP214, AAAS, NUP155, NUP93, NXF1, KIF1B, NUP205, NUP210, DTL, NDC1, ISY1, PHACTR4, NUP85, SEH1L, TMEM209, NUP35, CDKN1B, TERF2, MAT2A, BCL2, SMURF2, SLX4, WAS, NACC1, TBL1XR1, TBL1X, PSME3, EXO1, WWP2, LATS1, B2M, TMEM194A, CACUL1, NR1H3, FYB, ARHGDIA, KHSRP |
| - 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 PKD1_UBE2I |
| 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 PKD1_UBE2I |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PKD1 | C3149841 | POLYCYSTIC KIDNEY DISEASE 1 | 26 | UNIPROT |
| Hgene | PKD1 | C0085413 | Polycystic Kidney, Autosomal Dominant | 5 | CTD_human |
| Hgene | PKD1 | C0022680 | Polycystic Kidney Diseases | 2 | CTD_human;HPO |
| Hgene | PKD1 | C0010709 | Cyst | 1 | CTD_human |
| Tgene | UBE2I | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | UBE2I | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
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