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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: 27356

FusionGeneSummary for PKD1_UBE2I

check button Fusion gene summary
Fusion gene informationFusion gene name: PKD1_UBE2I
Fusion gene ID: 27356
HgeneTgene
Gene symbol

PKD1

UBE2I

Gene ID

5310

7329

Gene namepolycystin 1, transient receptor potential channel interactingubiquitin conjugating enzyme E2 I
SynonymsPBP|PC1|Pc-1|TRPP1C358B7.1|P18|UBC9
Cytomap

16p13.3

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionpolycystin-1autosomal dominant polycystic kidney disease 1 proteinpolycystic kidney disease 1 (autosomal dominant)polycystic kidney disease-associated proteintransient receptor potential cation channel, subfamily P, member 1SUMO-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 date2018052220180523
UniProtAcc

P98161

P63279

Ensembl transtripts involved in fusion geneENST00000423118, ENST00000262304, 
ENST00000561991, 
ENST00000339021, 
ENST00000355803, ENST00000325437, 
ENST00000397514, ENST00000397515, 
ENST00000403747, ENST00000566587, 
ENST00000406620, ENST00000402301, 
Fusion gene scores* DoF score3 X 2 X 3=185 X 5 X 5=125
# samples 35
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePKD1

GO:0031659

positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle

16311606

HgenePKD1

GO:0045944

positive regulation of transcription by RNA polymerase II

16311606

HgenePKD1

GO:0048754

branching morphogenesis of an epithelial tube

12482949

HgenePKD1

GO:0061136

regulation of proteasomal protein catabolic process

23001567

TgeneUBE2I

GO:0016925

protein sumoylation

15660128|19955185|21968017

TgeneUBE2I

GO:0045892

negative regulation of transcription, DNA-templated

16631117

TgeneUBE2I

GO:1903755

positive regulation of SUMO transferase activity

19955185


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
TCGALDCESCTCGA-C5-A2LX-01APKD1chr16

2155323

-UBE2Ichr16

1365655

+
* 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-intronENST00000423118ENST00000339021PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000423118ENST00000355803PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000423118ENST00000325437PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000423118ENST00000397514PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000423118ENST00000397515PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000423118ENST00000403747PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000423118ENST00000566587PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000423118ENST00000406620PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000423118ENST00000402301PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000262304ENST00000339021PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000262304ENST00000355803PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000262304ENST00000325437PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000262304ENST00000397514PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000262304ENST00000397515PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000262304ENST00000403747PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000262304ENST00000566587PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000262304ENST00000406620PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5CDS-intronENST00000262304ENST00000402301PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5UTR-intronENST00000561991ENST00000339021PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5UTR-intronENST00000561991ENST00000355803PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5UTR-intronENST00000561991ENST00000325437PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5UTR-intronENST00000561991ENST00000397514PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5UTR-intronENST00000561991ENST00000397515PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5UTR-intronENST00000561991ENST00000403747PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5UTR-intronENST00000561991ENST00000566587PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5UTR-intronENST00000561991ENST00000406620PKD1chr16

2155323

-UBE2Ichr16

1365655

+
5UTR-intronENST00000561991ENST00000402301PKD1chr16

2155323

-UBE2Ichr16

1365655

+

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FusionProtFeatures for PKD1_UBE2I


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PKD1

P98161

UBE2I

P63279

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}.

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 PKD1_UBE2I


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 PKD1_UBE2I


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
PKD1PKD2, RGS7, FN1, COL1A1, KRT18, COL2A1, SIAH1, HDAC9, MARK2, PKD1, ATP1A1, CFTR, JADE1, PTK2, CTNNB1, GANUBE2IHSF2, 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


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 PKD1_UBE2I


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 PKD1_UBE2I


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePKD1C3149841POLYCYSTIC KIDNEY DISEASE 126UNIPROT
HgenePKD1C0085413Polycystic Kidney, Autosomal Dominant5CTD_human
HgenePKD1C0022680Polycystic Kidney Diseases2CTD_human;HPO
HgenePKD1C0010709Cyst1CTD_human
TgeneUBE2IC0024667Animal Mammary Neoplasms1CTD_human
TgeneUBE2IC0024668Mammary Neoplasms, Experimental1CTD_human