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Fusion gene ID: 412 |
FusionGeneSummary for ACO2_UBE2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACO2_UBE2A | Fusion gene ID: 412 | Hgene | Tgene | Gene symbol | ACO2 | UBE2A | Gene ID | 50 | 7319 |
| Gene name | aconitase 2 | ubiquitin conjugating enzyme E2 A | |
| Synonyms | ACONM|HEL-S-284|ICRD|OCA8|OPA9 | HHR6A|MRXS30|MRXSN|RAD6A|UBC2 | |
| Cytomap | 22q13.2 | Xq24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aconitate hydratase, mitochondrialaconitase 2, mitochondrialcitrate hydro-lyaseepididymis secretory sperm binding protein Li 284mitochondrial aconitase | ubiquitin-conjugating enzyme E2 AE2 ubiquitin-conjugating enzyme ARAD6 homolog Aubiquitin carrier protein Aubiquitin-conjugating enzyme E2Aubiquitin-protein ligase A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q99798 | P49459 | |
| Ensembl transtripts involved in fusion gene | ENST00000216254, ENST00000396512, ENST00000466237, | ENST00000371558, ENST00000346330, ENST00000469205, ENST00000371569, | |
| Fusion gene scores | * DoF score | 12 X 4 X 8=384 | 3 X 3 X 3=27 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/384*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ACO2 [Title/Abstract] AND UBE2A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | ACO2 | GO:0006099 | tricarboxylic acid cycle | 9630632 |
| Hgene | ACO2 | GO:0006101 | citrate metabolic process | 9630632 |
| Tgene | UBE2A | GO:0008284 | positive regulation of cell proliferation | 11953320 |
| Tgene | UBE2A | GO:0033522 | histone H2A ubiquitination | 11953320 |
| Tgene | UBE2A | GO:0051865 | protein autoubiquitination | 11953320 |
| Tgene | UBE2A | GO:0070936 | protein K48-linked ubiquitination | 20061386 |
| Tgene | UBE2A | GO:0070979 | protein K11-linked ubiquitination | 20061386 |
| 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 | OV | TCGA-09-1659-01B | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| * 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 |
| Frame-shift | ENST00000216254 | ENST00000371558 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| Frame-shift | ENST00000216254 | ENST00000346330 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| 5CDS-intron | ENST00000216254 | ENST00000469205 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| 5CDS-intron | ENST00000216254 | ENST00000371569 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| Frame-shift | ENST00000396512 | ENST00000371558 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| Frame-shift | ENST00000396512 | ENST00000346330 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| 5CDS-intron | ENST00000396512 | ENST00000469205 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| 5CDS-intron | ENST00000396512 | ENST00000371569 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| intron-3CDS | ENST00000466237 | ENST00000371558 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| intron-3CDS | ENST00000466237 | ENST00000346330 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| intron-intron | ENST00000466237 | ENST00000469205 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
| intron-intron | ENST00000466237 | ENST00000371569 | ACO2 | chr22 | 41865186 | + | UBE2A | chrX | 118716551 | + |
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FusionProtFeatures for ACO2_UBE2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACO2 | UBE2A |
| Catalyzes the isomerization of citrate to isocitrate viacis-aconitate. {ECO:0000250|UniProtKB:P16276}. | Accepts ubiquitin from the E1 complex and catalyzes itscovalent attachment to other proteins. In association with the E3enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcriptionregulation by catalyzing the monoubiquitination of histone H2B at'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag forepigenetic transcriptional activation, elongation by RNApolymerase II, telomeric silencing, and is also a prerequisite forH3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as wellas 'Lys-48'-linked polyubiquitination. Required forpostreplication repair of UV-damaged DNA.{ECO:0000269|PubMed:16337599, ECO:0000269|PubMed:20061386}. |
| 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 ACO2_UBE2A |
| 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 ACO2_UBE2A |
| 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 |
| ACO2 | SRRM2, PSMD4, ATXN1L, APP, AK3, ACAT1, SIN3A, ACAA2, VCAM1, ITGA4, ASB9, CKB, IDH3A, IDH3G, MYH7B, SOD2, ALDH5A1, ALDOA, ALDOC, ATP1B1, ATP5F1, ATP5J, ESD, GPD1, GPD1L, GPD2, PITPNB, VAPA, NTRK1, SOD1, TRIM25 | UBE2A | TP53, MDM2, CDKN2A, RAD18, CDK2, UBR3, TRIM27, NBN, CRMP1, UBR1, RNF20, CCNT1, CDK9, HIST2H2BE, SHPRH, PCNA, UBA1, ZMYM2, UBA52, UBQLN1, TWF1, UBQLN4, PSMB2, UBE2V1, UNK, ZPR1, UBQLN2, CSE1L, PIN1, PSMB1, ZBED1, UCHL3, TYMS, SULT1A1, ZWILCH, ZFYVE19, TTLL12, HDLBP, XRN2, USP1, PRDX5, POMP, UBR5, RNF40, UBE2A, SDCBP, CBX5, HLTF, UBE2B, UBC, ANKRD32, WAC, UBR2, KCMF1, UBR4, NIPSNAP1, NIPSNAP3A, ABHD10, SSBP1, SARS2, ACOT9, KIF2C, PRPF19, RPA2, RPA3, UBE2L3, UBXN1, XIAP, CD59, TAX1BP1, ATXN10, FBXL6, ZNF512B, FAM134C, RC3H1, JPH4, LLGL2, SPTBN2, KRT6B, KRT5, SFPQ, KRT19, GSTP1, HIST1H2BD, LRRC59, OLA1, NPM3, GNAI3, HNRNPA2B1, KRT14, HNRNPA1L2, RPL12, DSG2, SRP14, ELAVL1, HNRNPR, ARHGEF2, PPP2R2A, RBBP4, PNPLA6, NONO, HNRNPDL, HNRNPUL1, RIOK1, SMCHD1, HNRNPC, TSR1, BUB3, KIF23, FAM98A, TPR, RPS23, EIF5A, MRE11A, LGALS3BP, NFKBIL1, TJP2, UQCRC2, CCT6B, RPS9, SNRPB, NCL, FLOT2, CPNE2, ATAD3A, LBR, U2AF2, NISCH, CALCOCO2, FAM184B, CPSF3, CTNNA2, TNIK, NAMPT, FTSJ3, FARSB, RPL35, AAAS, SPTA1, GCN1L1, ANXA2, SON, EIF3D, RNF123, TTN, DOCK7, PKN3, EIF5B, CLCN7, TPM4, PLS1, MYL6B, HIST1H2BC, EIF4A3, PUF60, CDK5, RPL10A, PLCD3, RPL23, CTNNA1, DCTN1, THRAP3, BRD9, CSNK2A1, CNP, HNRNPD, YBX1, PSMF1, RPS15A, CD2AP, ABCD3, EIF3F, PFN1, DNAJA1, PSMD3, LARS, EIF3C, SYNCRIP, ANXA6, AP1M1, EMD, TOMM40, TES, OCM, SRSF3, NUP133, TROVE2, MAT1A, TBC1D10B, GJA1, NF2, BTAF1, DHX15, PDCD6IP, KEAP1, CPVL, CCT6A, ADAR, ACAT1, NSA2, OBSCN, RNF4 |
| - 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 ACO2_UBE2A |
| 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 ACO2_UBE2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACO2 | C3281192 | INFANTILE CEREBELLAR-RETINAL DEGENERATION | 2 | ORPHANET;UNIPROT |
| Hgene | ACO2 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Hgene | ACO2 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Hgene | ACO2 | C4225384 | OPTIC ATROPHY 9 | 1 | UNIPROT |
| Tgene | UBE2A | C3275464 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE | 1 | ORPHANET;UNIPROT |
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