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Fusion gene ID: 2620 |
FusionGeneSummary for ARID1A_UBE2U |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARID1A_UBE2U | Fusion gene ID: 2620 | Hgene | Tgene | Gene symbol | ARID1A | UBE2U | Gene ID | 8289 | 148581 |
| Gene name | AT-rich interaction domain 1A | ubiquitin conjugating enzyme E2 U | |
| Synonyms | B120|BAF250|BAF250a|BM029|C1orf4|CSS2|ELD|MRD14|OSA1|P270|SMARCF1|hELD|hOSA1 | - | |
| Cytomap | 1p36.11 | 1p31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AT-rich interactive domain-containing protein 1AARID domain-containing protein 1AAT rich interactive domain 1A (SWI-like)BRG1-associated factor 250aOSA1 nuclear proteinSWI-like proteinSWI/SNF complex protein p270SWI/SNF-related, matrix-associated, | ubiquitin-conjugating enzyme E2 UE2 ubiquitin-conjugating enzyme Utesticular tissue protein Li 216ubiquitin carrier protein Uubiquitin conjugating enzyme E2 U (putative)ubiquitin conjugating enzyme E2U (putative)ubiquitin-protein ligase U | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O14497 | Q5VVX9 | |
| Ensembl transtripts involved in fusion gene | ENST00000324856, ENST00000457599, ENST00000374152, ENST00000540690, | ENST00000371076, ENST00000464349, | |
| Fusion gene scores | * DoF score | 21 X 13 X 13=3549 | 3 X 2 X 2=12 |
| # samples | 31 | 3 | |
| ** MAII score | log2(31/3549*10)=-3.51707245378671 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ARID1A [Title/Abstract] AND UBE2U [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | ARID1A | GO:0006337 | nucleosome disassembly | 8895581 |
| Hgene | ARID1A | GO:0006338 | chromatin remodeling | 11726552 |
| Hgene | ARID1A | GO:0030520 | intracellular estrogen receptor signaling pathway | 12200431 |
| Hgene | ARID1A | GO:0030521 | androgen receptor signaling pathway | 12200431 |
| Hgene | ARID1A | GO:0042921 | glucocorticoid receptor signaling pathway | 12200431 |
| Hgene | ARID1A | GO:0045893 | positive regulation of transcription, DNA-templated | 12200431 |
| 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 | RV | STAD | TCGA-BR-8679-01A | ARID1A | chr1 | 27059283 | + | UBE2U | chr1 | 64686542 | + |
| * 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 | ENST00000324856 | ENST00000371076 | ARID1A | chr1 | 27059283 | + | UBE2U | chr1 | 64686542 | + |
| 5CDS-3UTR | ENST00000324856 | ENST00000464349 | ARID1A | chr1 | 27059283 | + | UBE2U | chr1 | 64686542 | + |
| Frame-shift | ENST00000457599 | ENST00000371076 | ARID1A | chr1 | 27059283 | + | UBE2U | chr1 | 64686542 | + |
| 5CDS-3UTR | ENST00000457599 | ENST00000464349 | ARID1A | chr1 | 27059283 | + | UBE2U | chr1 | 64686542 | + |
| Frame-shift | ENST00000374152 | ENST00000371076 | ARID1A | chr1 | 27059283 | + | UBE2U | chr1 | 64686542 | + |
| 5CDS-3UTR | ENST00000374152 | ENST00000464349 | ARID1A | chr1 | 27059283 | + | UBE2U | chr1 | 64686542 | + |
| intron-3CDS | ENST00000540690 | ENST00000371076 | ARID1A | chr1 | 27059283 | + | UBE2U | chr1 | 64686542 | + |
| intron-3UTR | ENST00000540690 | ENST00000464349 | ARID1A | chr1 | 27059283 | + | UBE2U | chr1 | 64686542 | + |
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FusionProtFeatures for ARID1A_UBE2U |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARID1A | UBE2U |
| Catalyzes the covalent attachment of ubiquitin to otherproteins. {ECO:0000269|PubMed:22496338}. |
| 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 ARID1A_UBE2U |
| 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 ARID1A_UBE2U |
| 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 |
| ARID1A | KLF1, GATA1, SMARCB1, SMARCA4, SMARCA2, ING1, SMARCE1, PBRM1, SMARCC2, SMARCC1, PGR, BCL7C, HIC1, CUL2, ARID1B, SMAD2, SMAD3, CARM1, ADNP, RARA, SOX2, CHD7, SMARCD1, TP53, ELAVL1, SIRT7, TFAP4, CUL3, SMARCD2, ACTL6A, SMARCD3, PHF10, ECT2, YAP1, ITCH, NEDD4, SHMT2, MOV10, NXF1, EED, DPF3, DPF2, SS18, UNK, BCL7A, BCL7B, ESR1, NCOA1, RARB, RARG, EWSR1, SNW1, CDC5L, CUL1, SKP1, NFATC1, NFATC2, TOP1, CHEK1, VHL, EYA2, NR3C1, AR, ALDH2, TRIM25 | UBE2U | ANAPC11, BARD1, BFAR, MUL1, CADPS2, CGRRF1, DTX1, RNF144B, RNFT1, RNF181, MDM2, MIB1, MIB2, MID2, KAT6A, RNF41, PCGF1, PCGF2, PJA1, PML, RNF11, RNF113A, RNF113B, RNF14, RNF150, RNF166, RNF17, RNF170, RNF2, RNF25, RNF26, RNF5, SYVN1, TRAIP, RNF139, TRIM2, TRIM24, TRIM28, TRIM3, TRIM34, TRIM35, TRIM37, TRIM38, TRIM47, TRIM54, TRIM63, TRIM65, TRIM68, VPS41, RNF114, ZSWIM2, TRIM23, TRIM74, RBCK1, VPS11, RNF125, DZIP3, MKRN3, PCGF6, TRIM27, RNF10, TRIM15, TRIM32, TRIM46, TRIM5, GOLGA2, VPS28, MVB12A |
| - 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 ARID1A_UBE2U |
| 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 ARID1A_UBE2U |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ARID1A | C0038356 | Stomach Neoplasms | 3 | CTD_human |
| Hgene | ARID1A | C2239176 | Liver carcinoma | 3 | CTD_human |
| Hgene | ARID1A | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | ARID1A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | ARID1A | C0006413 | Burkitt Lymphoma | 1 | CTD_human |
| Hgene | ARID1A | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| Hgene | ARID1A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | ARID1A | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Hgene | ARID1A | C0027819 | Neuroblastoma | 1 | CTD_human |
| Hgene | ARID1A | C0036920 | Sezary Syndrome | 1 | CTD_human |
| Hgene | ARID1A | C0079772 | T-Cell Lymphoma | 1 | CTD_human |
| Hgene | ARID1A | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| Hgene | ARID1A | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| Hgene | ARID1A | C0265338 | Coffin-Siris syndrome | 1 | CTD_human;ORPHANET |
| Hgene | ARID1A | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human |
| Hgene | ARID1A | C0920269 | Microsatellite Instability | 1 | CTD_human |
| Hgene | ARID1A | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
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