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Fusion gene ID: 31568 |
FusionGeneSummary for RNF2_CACHD1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RNF2_CACHD1 | Fusion gene ID: 31568 | Hgene | Tgene | Gene symbol | RNF2 | CACHD1 | Gene ID | 6045 | 57685 |
Gene name | ring finger protein 2 | cache domain containing 1 | |
Synonyms | BAP-1|BAP1|DING|HIPI3|RING1B|RING2 | - | |
Cytomap | 1q25.3 | 1p31.3 | |
Type of gene | protein-coding | protein-coding | |
Description | E3 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 DinG | VWFA and cache domain-containing protein 1cache domain-containing protein 1von Willebrand factor type A and cache domain containing 1 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q99496 | Q5VU97 | |
Ensembl transtripts involved in fusion gene | ENST00000367510, ENST00000367509, | ENST00000371073, ENST00000290039, ENST00000495994, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 8 X 5 X 6=240 |
# samples | 3 | 8 | |
** MAII score | log2(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) |
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 | RNF2 | GO:0035518 | histone H2A monoubiquitination | 16943429 |
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 | BRCA | TCGA-AN-A0XU-01A | RNF2 | chr1 | 185014781 | + | CACHD1 | chr1 | 65137247 | + |
* 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 |
5UTR-3CDS | ENST00000367510 | ENST00000371073 | RNF2 | chr1 | 185014781 | + | CACHD1 | chr1 | 65137247 | + |
5UTR-3CDS | ENST00000367510 | ENST00000290039 | RNF2 | chr1 | 185014781 | + | CACHD1 | chr1 | 65137247 | + |
5UTR-3UTR | ENST00000367510 | ENST00000495994 | RNF2 | chr1 | 185014781 | + | CACHD1 | chr1 | 65137247 | + |
5UTR-3CDS | ENST00000367509 | ENST00000371073 | RNF2 | chr1 | 185014781 | + | CACHD1 | chr1 | 65137247 | + |
5UTR-3CDS | ENST00000367509 | ENST00000290039 | RNF2 | chr1 | 185014781 | + | CACHD1 | chr1 | 65137247 | + |
5UTR-3UTR | ENST00000367509 | ENST00000495994 | RNF2 | chr1 | 185014781 | + | CACHD1 | chr1 | 65137247 | + |
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FusionProtFeatures for RNF2_CACHD1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RNF2 | CACHD1 |
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}. |
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 RNF2_CACHD1 |
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 |
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 |
RNF2 | CBX4, 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, BAALC | CACHD1 | FBXO6, FBXW11, TMEM17, CTDSPL, BTRC, ST8SIA4, CBWD2, TMEM52B, FAM131B, SLAMF1, SCGB1D1 |
- 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 RNF2_CACHD1 |
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 RNF2_CACHD1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |