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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: 31568

FusionGeneSummary for RNF2_CACHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF2_CACHD1
Fusion gene ID: 31568
HgeneTgene
Gene symbol

RNF2

CACHD1

Gene ID

6045

57685

Gene namering finger protein 2cache domain containing 1
SynonymsBAP-1|BAP1|DING|HIPI3|RING1B|RING2-
Cytomap

1q25.3

1p31.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RING2HIP2-interacting protein 3RING finger protein 1BRING finger protein BAP-1RING-type E3 ubiquitin transferase RING2huntingtin-interacting protein 2-interacting protein 3protein DinGVWFA and cache domain-containing protein 1cache domain-containing protein 1von Willebrand factor type A and cache domain containing 1
Modification date2018051920180519
UniProtAcc

Q99496

Q5VU97

Ensembl transtripts involved in fusion geneENST00000367510, ENST00000367509, 
ENST00000371073, ENST00000290039, 
ENST00000495994, 
Fusion gene scores* DoF score4 X 4 X 3=488 X 5 X 6=240
# samples 38
** MAII scorelog2(3/48*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RNF2 [Title/Abstract] AND CACHD1 [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
HgeneRNF2

GO:0035518

histone H2A monoubiquitination

16943429


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
TCGALDBRCATCGA-AN-A0XU-01ARNF2chr1

185014781

+CACHD1chr1

65137247

+
* 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
5UTR-3CDSENST00000367510ENST00000371073RNF2chr1

185014781

+CACHD1chr1

65137247

+
5UTR-3CDSENST00000367510ENST00000290039RNF2chr1

185014781

+CACHD1chr1

65137247

+
5UTR-3UTRENST00000367510ENST00000495994RNF2chr1

185014781

+CACHD1chr1

65137247

+
5UTR-3CDSENST00000367509ENST00000371073RNF2chr1

185014781

+CACHD1chr1

65137247

+
5UTR-3CDSENST00000367509ENST00000290039RNF2chr1

185014781

+CACHD1chr1

65137247

+
5UTR-3UTRENST00000367509ENST00000495994RNF2chr1

185014781

+CACHD1chr1

65137247

+

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FusionProtFeatures for RNF2_CACHD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF2

Q99496

CACHD1

Q5VU97

E3 ubiquitin-protein ligase that mediatesmonoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub),thereby playing a central role in histone code and gene regulation(PubMed:15386022, PubMed:16359901, PubMed:25519132,PubMed:21772249, PubMed:25355358, PubMed:26151332). H2AK119Ubgives a specific tag for epigenetic transcriptional repression andparticipates in X chromosome inactivation of female mammals. Maybe involved in the initiation of both imprinted and random Xinactivation (By similarity). Essential component of a Polycombgroup (PcG) multiprotein PRC1-like complex, a complex classrequired to maintain the transcriptionally repressive state ofmany genes, including Hox genes, throughout development(PubMed:16359901, PubMed:26151332). PcG PRC1 complex acts viachromatin remodeling and modification of histones, renderingchromatin heritably changed in its expressibility(PubMed:26151332). E3 ubiquitin-protein ligase activity isenhanced by BMI1/PCGF4 (PubMed:21772249). Acts as the main E3ubiquitin ligase on histone H2A of the PRC1 complex, while RING1may rather act as a modulator of RNF2/RING2 activity (Probable).Association with the chromosomal DNA is cell-cycle dependent. Inresting B- and T-lymphocytes, interaction with AURKB leads toblock its activity, thereby maintaining transcription in restinglymphocytes (By similarity). {ECO:0000250|UniProtKB:Q9CQJ4,ECO:0000269|PubMed:11513855, ECO:0000269|PubMed:15386022,ECO:0000269|PubMed:16359901, ECO:0000269|PubMed:16714294,ECO:0000269|PubMed:20696397, ECO:0000269|PubMed:21772249,ECO:0000269|PubMed:25355358, ECO:0000269|PubMed:25519132,ECO:0000269|PubMed:26151332, ECO:0000305}. May regulate voltage-dependent calcium channels.{ECO:0000250}.

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 RNF2_CACHD1


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 RNF2_CACHD1


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
RNF2CBX4, UBE2K, UBE2D2, UBE2D1, TFCP2, BMI1, RING1, KDM5C, REST, PCGF2, MBD1, SSX2, BCOR, PCGF1, RYBP, UBE2J1, UBE2U, UBE2D3, UBE2D4, UBE2E1, UBE2E3, UBE2E2, UBE2H, UBE2V1, UBE2V2, UBE2W, CBX7, PSMC4, KMT2A, KAT8, POU5F1, HIST2H2AC, CENPA, PHB, CASP3, CASP9, UBE3A, RNF2, USP7, USP11, TERF1, MLLT3, DNAJC2, HIST2H2AA3, L3MBTL2, HIST3H3, HIST4H4, PCGF6, ZFP42, YY2, PCGF3, PCGF5, YAF2, PHC1, PHC2, PHC3, CBX2, CBX6, CBX8, SCMH1, SCML1, SCML2, CBX3, E2F6, TFDP1, WDR5, MGA, HDAC1, SKP1, BCORL1, KDM2B, AUTS2, FBRS, FBRSL1, CSNK2A1, CSNK2A2, CSNK2B, CLAM, H2AFX, PPARGC1A, PGP, CDKN2A, MAPKAPK3, UBC, SIAH1, PHB2, UBE2L3, TP53, NOTCH1, MDM2, OTUD6A, VCP, YY1, PEG10, USP19, HECW2, RRM1, TARDBP, SNAI1, AMBRA1, WASH1, PIK3C3, BECN1, ATG14, HIST1H2AB, SUZ12, EED, NCL, NUMA1, HNRNPU, ACTG1, DYNC1H1, TRIM28, LIMA1, RPL4, RPL6, SON, DDX5, SYNCRIP, RPS3A, HNRNPC, RPS2, HNRNPL, ATP2A2, TPM3, CHD4, RPL10, HNRNPA1, NOP58, HNRNPR, DHX9, RPS8, RPL7, AIFM1, GCN1L1, HNRNPUL1, MYBBP1A, AR, RPL7A, ACACA, ILF3, TUBB4B, RPS11, HSPA1B, HNRNPUL2, RPL17, SNRNP200, SUPT16H, RPS24, RPL18A, RPL10A, PDE4DIP, ATP5B, YBX1, TRIM25, RPL13A, RPL28, SF3B1, SF3B2, RPS15A, PDLIM5, THRAP3, RPL14, SEC16A, CSRP1, H1F0, LUC7L2, TUFM, RPL9, DDX18, CLTCL1, SMC1A, DDX39B, RPL27A, HP1BP3, CHTOP, ATAD3A, HNRNPA0, GNB2L1, ALYREF, RANBP2, RPL21, RPL3, RPL31, RPS13, RPL26, DDX3X, COPA, ADNP, RBM39, RBMX, NOP2, MRTO4, FBL, RPL34, DKC1, CALM1, TAF15, LMNB2, SMARCA4, ZC3HAV1, RPL24, RPL32, RPL15, RPL27, LAS1L, RBM14, U2AF1, PRPF8, EIF3A, YBX3, HIST3H2A, TFRC, PABPC4, LAD1, SLC25A11, SRSF1, SLC25A10, GTPBP4, ADAR, DHX30, RPL36, RPS26, KIAA1462, THOC2, POLR2B, SMARCA5, EPRS, EEF2, WDR43, TBL1XR1, PTBP1, FUBP3, DDX56, RPL29, MCM7, SSB, SF3B3, ZFR, ZC3H4, BMS1, SMC3, MYEF2, RPL19, DCAF7, SNRPD2, DDX52, EWSR1, PDCD11, XRCC5, RPS6KA4, ZFP91, HNRNPDL, RSL1D1, AKAP9, RBM47, RPN1, PGAM5, BCLAF1, EEF1D, PES1, SAMHD1, FYTTD1, BAZ1B, FLNB, REPIN1, HDAC2, RAD21, SSRP1, KRR1, EIF3B, AKAP8, AKAP8L, SFXN1, RRP1, H2AFY, RPL23A, PYCR1, RBM8A, RPLP1, SPRR1A, SPECC1, POGZ, PDS5B, IQGAP1, CALR, RRP1B, COPG1, UPF1, CCT3, TEX10, SNRNP70, NUP93, VGF, HNRNPA3, EIF2S3, RUVBL2, RAN, ERH, RPS10, RPS17, HIST3H2BB, CBX1, EIF2S1, ZNF326, SYNE1, GTF2I, DDX27, BOP1, PHGDH, TIMM50, EPHX1, KHDRBS1, AFG3L2, HEATR1, G3BP1, RBM28, WDR46, TTN, RRP12, LRPPRC, NUP205, SART3, RBM5, CPT1A, LARP1, MCCC1, C17orf85, UTP6, CANX, SMARCD2, DDX50, ABCE1, FAM60A, STRBP, UTP15, EIF3D, HSD17B12, RPS7, HIST2H2AB, THEM6, ELAVL1, MRPL11, GTF3C1, PWP2, GATAD2B, NAT10, COPB1, NOL6, NDUFS1, RCC1, NOL9, NOL11, SNRPN, DNAJA2, LDHB, G3BP2, ZNF512, POLR2H, SLC25A22, SPRR2A, EIF4A3, C7orf50, ATP5C1, CDK1, EIF3I, RBBP4, AQR, TIAM2, ATP5J2-PTCD1, UBTF, SMARCC1, LMO7, TRIM24, ABCF1, CEBPZ, WDR12, WIZ, ATP5F1, TRIM26, KIAA0020, CIRH1A, SRSF9, U2AF2, RRP7A, TRAF2, RUVBL1, LYAR, THOC6, ATP5I, EMD, MYL6B, NHP2, MRPS26, RPS19, ADAMTS6, ANK3, CNBP, CHCHD3, POLR1A, HNRNPH3, KLK2, NFXL1, NUDT16L1, SRSF3, RELA, PELP1, ZNF638, UACA, PLAA, FAM208A, EIF2S2, RFC4, CAPRIN1, LARP7, DDX31, CTPS2, TECR, PWP1, YTHDF1, RANGAP1, EIF3L, KHSRP, H1FX, RNF222, YTHDF2, ATL3, TDRKH, KIAA1244, IGLL5, RPF2, MSI2, SUGP2, PNO1, PPP6C, OCIAD2, RALY, IK, PFKL, ARPC4, ARCN1, LPP, MTA1, PARP12, OTUB1, MCM5, SMCHD1, POLD1, ZMYM3, HYOU1, EFTUD2, ATP2C1, TRIM56, SMC4, CCT5, FTSJ3, FIP1L1, SART1, DPF2, NUP88, EHMT2, GLUD2, PLG, MOV10, ZNF614, DDX51, C15orf52, MTA2, POLDIP3, UTP18, EIF3F, VIM, APP, ARAF, FXR2, SEC11A, ATP5O, POLR2E, PHF5A, RCN1, SFXN2, HNRNPAB, MAGOH, MAGED2, SNRPD1, ITM2A, APOOL, RPL38, TUBB2A, CIRBP, XPO1, XPOT, GPATCH4, HOXB13, NHP2L1, SEC22B, RICTOR, WDR36, NOP14, NUP133, SMARCC2, NCAPH, CDH1, ESRP1, DYNC1I2, MAGT1, KAT7, UHRF1, NOLC1, SUPT5H, TBL2, ACIN1, CENPB, COPB2, CD3EAP, NCBP1, NOC2L, MPHOSPH10, CLPX, SNW1, LAP3, XAB2, NAPA, POLR1E, SEC13, SNRPB2, BYSL, C1QBP, NOB1, CLINT1, RPL22, PRPF19, ARL1, MAD2L1, NSA2, VDAC3, SRSF10, MRPS22, NIFK, TRIM14, CISD1, PURB, KCTD10, RPL7L1, COMT, RPS4Y1, NDUFA4, RPS12, TUBA1B, CHD3, QARS, GNAI2, IPO7, PHIP, PPAN-P2RY11, DHX33, PDXDC1, ZBTB7B, ABCB6, EEA1, ZCCHC8, DDX24, ESF1, EFR3A, SARM1, ADD3, MARS, RARS, PPP6R3, FAM120A, SRP72, ZNF687, MTHFD1, CSE1L, ZFY, GNL3, THOC1, PPP1R9B, NOM1, TRIM41, PBXIP1, AARS2, P4HB, PKP2, PTCD3, ACOT8, LRCH1, ABCF3, CALCOCO2, ABCD3, ADAM9, SMARCE1, GLE1, FKBP11, COLGALT1, SRP68, CUL5, DNAJC21, LDHA, MFAP1, SF3A3, SESN3, NDUFA10, NSF, GLYR1, RRP8, RNF114, CLN6, SLC27A3, ZC3H15, ZC3HAV1L, IMP3, ZNF346, SMN1, SAP18, SNRPD3, CSRP2, TPI1, TRA2A, RPS19BP1, MRPS7, GAR1, MRPS17, AGK, CDK13, RAD50, CBLL1, EIF6, GTF3C4, HIST1H1E, IPO4, IQSEC1, LUC7L3, BCAS2, RER1, RDX, RNPS1, ZC3H14, TDRD1, OGFR, GLG1, SENP3, DMAP1, KDM1A, PSMC2, TOP1, SF3B4, ZNF787, CRNKL1, TARS, KIF20A, MMS19, TMX3, RPA1, PTDSS1, FAF2, THOC5, ZNF740, LRRFIP1, RCHY1, NUDT21, POLR2G, DAZAP1, NGDN, PDHB, MTDH, TUBAL3, TMED10, MRPL48, NOL7, RHOT2, USMG5, HIST1H1C, HIST1H1D, H3F3A, SF3A1, CXXC1, ZFP64, NOC3L, PSMD12, TIMMDC1, QPCTL, ATP2B1, MTCH2, PSMA6, RPSA, BRI3BP, NUBPL, RCL1, LCLAT1, SNRPA, NDUFA9, MRPS21, NME3, RAB10, RPS15, PSMC3, MIER2, MLLT1, TRIM27, RPLP0, TOP2A, WDR6, AKIP1, ACTL8, MAX, FOXJ2, CDC5L, NANOG, KDM6A, SIK1, TSC22D2, ZNF131, UBR5, KIAA0430, HELZ, SOWAHA, PAN2, MTNR1A, ERG, DDB2, PCBP2-OT1, BAALCCACHD1FBXO6, FBXW11, TMEM17, CTDSPL, BTRC, ST8SIA4, CBWD2, TMEM52B, FAM131B, SLAMF1, SCGB1D1


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 RNF2_CACHD1


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 RNF2_CACHD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource