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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: 30336

FusionGeneSummary for RANBP2_RAPGEF4

check button Fusion gene summary
Fusion gene informationFusion gene name: RANBP2_RAPGEF4
Fusion gene ID: 30336
HgeneTgene
Gene symbol

RANBP2

RAPGEF4

Gene ID

5903

11069

Gene nameRAN binding protein 2Rap guanine nucleotide exchange factor 4
SynonymsADANE|ANE1|IIAE3|NUP358|TRP1|TRP2CAMP-GEFII|CGEF2|EPAC|EPAC 2|EPAC2|Nbla00496
Cytomap

2q13

2q31.1

Type of geneprotein-codingprotein-coding
DescriptionE3 SUMO-protein ligase RanBP2358 kDa nucleoporinE3 SUMO-protein transferase RanBP2P270acute necrotizing encephalopathy 1 (autosomal dominant)nuclear pore complex protein Nup358nucleoporin 358nucleoporin Nup358ran-binding protein 2transformation-rrap guanine nucleotide exchange factor 4RAP guanine-nucleotide-exchange factor (GEF) 4Rap guanine nucleotide exchange factor (GEF) 4cAMP-regulated guanine nucleotide exchange factor IIexchange factor directly activated by cAMP 2exchange protein direc
Modification date2018052320180519
UniProtAcc

P49792

Q8WZA2

Ensembl transtripts involved in fusion geneENST00000283195, ENST00000264111, 
ENST00000397081, ENST00000409036, 
ENST00000397087, ENST00000538974, 
ENST00000540783, ENST00000539331, 
ENST00000473043, ENST00000535187, 
Fusion gene scores* DoF score5 X 5 X 4=1008 X 8 X 5=320
# samples 58
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/320*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RANBP2 [Title/Abstract] AND RAPGEF4 [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
HgeneRANBP2

GO:0016925

protein sumoylation

17264123|22155184


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
TCGALDSARCTCGA-DX-A8BM-01ARANBP2chr2

109336134

+RAPGEF4chr2

173659753

+
* 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
Frame-shiftENST00000283195ENST00000264111RANBP2chr2

109336134

+RAPGEF4chr2

173659753

+
Frame-shiftENST00000283195ENST00000397081RANBP2chr2

109336134

+RAPGEF4chr2

173659753

+
Frame-shiftENST00000283195ENST00000409036RANBP2chr2

109336134

+RAPGEF4chr2

173659753

+
5CDS-intronENST00000283195ENST00000397087RANBP2chr2

109336134

+RAPGEF4chr2

173659753

+
5CDS-intronENST00000283195ENST00000538974RANBP2chr2

109336134

+RAPGEF4chr2

173659753

+
5CDS-intronENST00000283195ENST00000540783RANBP2chr2

109336134

+RAPGEF4chr2

173659753

+
5CDS-intronENST00000283195ENST00000539331RANBP2chr2

109336134

+RAPGEF4chr2

173659753

+
5CDS-intronENST00000283195ENST00000473043RANBP2chr2

109336134

+RAPGEF4chr2

173659753

+
5CDS-intronENST00000283195ENST00000535187RANBP2chr2

109336134

+RAPGEF4chr2

173659753

+

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FusionProtFeatures for RANBP2_RAPGEF4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RANBP2

P49792

RAPGEF4

Q8WZA2

E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2conjugation by UBE2I (PubMed:11792325, PubMed:12032081,PubMed:15378033, PubMed:22194619, PubMed:15931224). Involved intransport factor (Ran-GTP, karyopherin)-mediated protein importvia the F-G repeat-containing domain which acts as a docking sitefor substrates (PubMed:7775481). Binds single-stranded RNA (invitro) (PubMed:7775481). May bind DNA (PubMed:7775481). Componentof the nuclear export pathway (PubMed:10078529). Specific dockingsite for the nuclear export factor exportin-1 (PubMed:10078529).Sumoylates PML at 'Lys-490' which is essential for the properassembly of PML-NB (PubMed:22155184). Recruits BICD2 to thenuclear envelope and cytoplasmic stacks of nuclear pore complexknown as annulate lamellae during G2 phase of cell cycle(PubMed:20386726). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357,PubMed:23353830). {ECO:0000269|PubMed:11792325,ECO:0000269|PubMed:12032081, ECO:0000269|PubMed:15378033,ECO:0000269|PubMed:15931224, ECO:0000269|PubMed:20386726,ECO:0000269|PubMed:20676357, ECO:0000269|PubMed:22155184,ECO:0000269|PubMed:22194619, ECO:0000269|PubMed:23353830,ECO:0000269|PubMed:7775481, ECO:0000303|PubMed:10078529}. Guanine nucleotide exchange factor (GEF) for RAP1A,RAP1B and RAP2A small GTPases that is activated by binding cAMP.Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction with RIMS2 (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:10777494,ECO:0000269|PubMed:9856955}.

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 RANBP2_RAPGEF4


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 RANBP2_RAPGEF4


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
RANBP2UBE2I, KPNB1, KPNA1, RAN, OPN1LW, CDC73, AIRE, PARK2, LRPAP1, APC, TAF1, IFT140, AKAP13, FHOD1, ARID4B, CDCA8, HDAC4, RANGAP1, MYC, CALM1, CEBPA, PSMD1, SIRT7, SENP1, TP53, CTNNB1, RAPGEF3, KIFAP3, KIF3A, TOP2B, KIF5B, KIF5C, SP100, NUP214, NUP153, PML, CUL2, NXF1, MATR3, ILF2, EEF1A1, HNRNPK, HNRNPF, HNRNPM, DDX17, SMU1, RRS1, CHMP2A, FLNA, IK, HNRNPH1, DHX15, DHX9, RPS14, TRIM55, PRKDC, M6PR, RRP7A, HSPA1L, ALB, MMS19, LMNA, ADRB2, BAG3, KPNA2, CUL1, SUMO1, SUMO2, NLK, UBTD1, LGR4, CHFR, CUL7, OBSL1, CCDC8, SUZ12, EED, RNF2, BMI1, RANBP2, NUP62, NUSAP1, COMTD1, SCGN, NUP50, RCC1, ZACN, IER2, FBXW11, CLTC, EFTUD2, IPO5, COL4A3BP, HNRNPC, MED13, PRPF8, PTGES3, RALY, RPLP0, SNRNP200, SRRM1, TOP2A, TUBB, UQCRC2, VCP, KIF3B, NUP43, NUP85, NUP107, NUP133, NUP160, NUP35, NUPL1, SEH1L, FOXB1, CRY2, FOXL1, PRMT5, FOXQ1, WAS, UBA2, MCM2, SNW1, CDC5L, NFATC2, ZNF746, CTDSPL2, PPM1D, B2M, TMEM194A, TRAF3IP3, MDM2, TESRAPGEF4ABCC8, RIMS2, RAP2A, RAP1A, ATXN1, BZRAP1, SWAP70, TRAF2, ZC3H11A, C16orf45, FBXL13


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 RANBP2_RAPGEF4


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 RANBP2_RAPGEF4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRANBP2C0018199Granuloma, Plasma Cell1CTD_human
HgeneRANBP2C2675556ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 31CTD_human;ORPHANET;UNIPROT