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Fusion gene ID: 2248 |
FusionGeneSummary for APPBP2_SETD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: APPBP2_SETD2 | Fusion gene ID: 2248 | Hgene | Tgene | Gene symbol | APPBP2 | SETD2 | Gene ID | 10513 | 29072 |
| Gene name | amyloid beta precursor protein binding protein 2 | SET domain containing 2 | |
| Synonyms | APP-BP2|HS.84084|PAT1 | HBP231|HIF-1|HIP-1|HSPC069|HYPB|KMT3A|LLS|SET2|p231HBP | |
| Cytomap | 17q23.2 | 3p21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | amyloid protein-binding protein 2amyloid beta precursor protein (cytoplasmic tail) binding protein 2protein interacting with APP tail 1 | histone-lysine N-methyltransferase SETD2huntingtin interacting protein 1huntingtin yeast partner Bhuntingtin-interacting protein Blysine N-methyltransferase 3Aprotein-lysine N-methyltransferase SETD2 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q92624 | Q9BYW2 | |
| Ensembl transtripts involved in fusion gene | ENST00000083182, ENST00000592995, | ENST00000409792, ENST00000492397, | |
| Fusion gene scores | * DoF score | 8 X 5 X 4=160 | 6 X 6 X 6=216 |
| # samples | 8 | 7 | |
| ** MAII score | log2(8/160*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/216*10)=-1.6256044852185 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: APPBP2 [Title/Abstract] AND SETD2 [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 | APPBP2 | GO:0046907 | intracellular transport | 9843960 |
| Tgene | SETD2 | GO:0010569 | regulation of double-strand break repair via homologous recombination | 24843002 |
| Tgene | SETD2 | GO:0018023 | peptidyl-lysine trimethylation | 27518565 |
| Tgene | SETD2 | GO:0018026 | peptidyl-lysine monomethylation | 28753426 |
| Tgene | SETD2 | GO:0032465 | regulation of cytokinesis | 27518565 |
| Tgene | SETD2 | GO:0032727 | positive regulation of interferon-alpha production | 28753426 |
| Tgene | SETD2 | GO:0034340 | response to type I interferon | 28753426 |
| Tgene | SETD2 | GO:0051607 | defense response to virus | 28753426 |
| Tgene | SETD2 | GO:0097198 | histone H3-K36 trimethylation | 23043551|24843002|26002201|27474439|28753426 |
| Tgene | SETD2 | GO:0097676 | histone H3-K36 dimethylation | 26002201 |
| Tgene | SETD2 | GO:1902850 | microtubule cytoskeleton organization involved in mitosis | 27518565 |
| Tgene | SETD2 | GO:1905634 | regulation of protein localization to chromatin | 24843002 |
| 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 | SARC | TCGA-DX-A6YS-01A | APPBP2 | chr17 | 58571827 | - | SETD2 | chr3 | 47061330 | - |
| * 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 | ENST00000083182 | ENST00000409792 | APPBP2 | chr17 | 58571827 | - | SETD2 | chr3 | 47061330 | - |
| 5CDS-intron | ENST00000083182 | ENST00000492397 | APPBP2 | chr17 | 58571827 | - | SETD2 | chr3 | 47061330 | - |
| intron-3CDS | ENST00000592995 | ENST00000409792 | APPBP2 | chr17 | 58571827 | - | SETD2 | chr3 | 47061330 | - |
| intron-intron | ENST00000592995 | ENST00000492397 | APPBP2 | chr17 | 58571827 | - | SETD2 | chr3 | 47061330 | - |
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FusionProtFeatures for APPBP2_SETD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| APPBP2 | SETD2 |
| May play a role in intracellular protein transport. Maybe involved in the translocation of APP along microtubules towardthe cell surface. {ECO:0000269|PubMed:9843960}. |
| 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 APPBP2_SETD2 |
| 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 APPBP2_SETD2 |
| 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 |
| APPBP2 | APP, CNTFR, MUL1, EID3, MFSD3, CREB3, WDR24, ZCCHC12, WNT5B, RRS1, SLC22A6, MLLT3, TBL3, KIF6, PCSK5, CHMP5, SYT11, NFYA, SCFD1, UBC, TCEB2, TCEB1, CUL2, COPS6, FAM92A1, RASSF5, GP9, FSTL1, AHCY, CALM3, CLCN1, CSNK1G2, DPEP1, GALNT3, GSTP1, HSPA4, CDK16, PPP1R8, PRKAA2, PRKACB, TAF11, WAS, NPRL3, HIST1H2AK, KLF11, AIM2, DHRS2, CORO2B, SYNRG, TCF25, SNX5, ST8SIA5, ERO1L, AK3, LUZP4, LUC7L2, FXYD7, UBE2R2, ANKRD10, UGGT2, LANCL2, CCNL1, ARMCX5, ZNF747, C1orf50, SLC25A23, RNF128, LONRF3, CTC1, RNF34, PYROXD2, ZC3H10, EPT1, DCD, HIPK4, FAM19A4, COL24A1, GCSAM, KLHL35, CCDC85C, SELV, PI4KAP2, MGC34796, C6orf226, IKBKE, C1QTNF2, XRCC4, SKAP1, COPS2, COPS3, AP4S1, RASSF8, SLAIN2, KBTBD7, COPS8, GLMN, COPS7B, DOCK8, INTU, ZNF232, MYCL, IKZF1, THOC3, NPRL2, FBXL5, GNA15, ZNF785, DQX1, ZIM2, GATAD2A, USP25, THSD4, ZNF408, FAM107A | SETD2 | HTT, IWS1, TP53, HIST1H3A, SETD2, POLR2A, ELAVL1, ATXN1, CIC, CBX8, SOX2, SMAD3, SIAH2, CLK2, HIST3H3, WDR37, ARHGEF10, LUC7L, SCARA3, AURKA, EIF3I, XPO1, RASSF8, GAN, ATM, HNRNPLL, NXF2, HSPB8, RSBN1, F9, CPNE7, PIP4K2A, TRPC4AP, JMJD6, TRIM25 |
| - 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 APPBP2_SETD2 |
| 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 APPBP2_SETD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SETD2 | C0007134 | Renal Cell Carcinoma | 2 | CTD_human |
| Tgene | SETD2 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | SETD2 | C0010701 | Phyllodes Tumor | 1 | CTD_human |
| Tgene | SETD2 | C0023418 | leukemia | 1 | CTD_human |
| Tgene | SETD2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | SETD2 | C0920269 | Microsatellite Instability | 1 | CTD_human |
| Tgene | SETD2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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