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Fusion gene ID: 27356 |
FusionGeneSummary for PKD1_UBE2I |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PKD1_UBE2I |
![]() (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 |
![]() (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 |