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Fusion gene ID: 1647 |
FusionGeneSummary for ANAPC2_CEBPA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANAPC2_CEBPA | Fusion gene ID: 1647 | Hgene | Tgene | Gene symbol | ANAPC2 | CEBPA | Gene ID | 29882 | 1050 |
| Gene name | anaphase promoting complex subunit 2 | CCAAT enhancer binding protein alpha | |
| Synonyms | APC2 | C/EBP-alpha|CEBP | |
| Cytomap | 9q34.3 | 19q13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | anaphase-promoting complex subunit 2cyclosome subunit 2 | CCAAT/enhancer-binding protein alphaCCAAT/enhancer binding protein (C/EBP), alpha | |
| Modification date | 20180523 | 20180521 | |
| UniProtAcc | Q9UJX6 | P49715 | |
| Ensembl transtripts involved in fusion gene | ENST00000487917, ENST00000323927, | ENST00000498907, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ANAPC2 [Title/Abstract] AND CEBPA [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 | ANAPC2 | GO:0070979 | protein K11-linked ubiquitination | 18485873 |
| Tgene | CEBPA | GO:0006351 | transcription, DNA-templated | 15664994 |
| Tgene | CEBPA | GO:0008285 | negative regulation of cell proliferation | 14660596 |
| Tgene | CEBPA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7959007|20972335 |
| Tgene | CEBPA | GO:0045945 | positive regulation of transcription by RNA polymerase III | 12695546 |
| 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 | LAML | TCGA-AB-2880-03A | ANAPC2 | chr9 | 140074958 | - | CEBPA | chr19 | 33792417 | - |
| * 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 |
| intron-3CDS | ENST00000487917 | ENST00000498907 | ANAPC2 | chr9 | 140074958 | - | CEBPA | chr19 | 33792417 | - |
| intron-3CDS | ENST00000323927 | ENST00000498907 | ANAPC2 | chr9 | 140074958 | - | CEBPA | chr19 | 33792417 | - |
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FusionProtFeatures for ANAPC2_CEBPA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANAPC2 | CEBPA |
| Together with the RING-H2 protein ANAPC11, constitutesthe catalytic component of the anaphase promotingcomplex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitinligase that controls progression through mitosis and the G1 phaseof the cell cycle. The APC/C complex acts by mediatingubiquitination and subsequent degradation of target proteins: itmainly mediates the formation of 'Lys-11'-linked polyubiquitinchains and, to a lower extent, the formation of 'Lys-48'- and'Lys-63'-linked polyubiquitin chains. The CDC20-APC/C complexpositively regulates the formation of synaptic vesicle clusteringat active zone to the presynaptic membrane in postmitotic neurons.CDC20-APC/C-induced degradation of NEUROD2 drives presynapticdifferentiation. {ECO:0000269|PubMed:11739784,ECO:0000269|PubMed:18485873}. | Transcription factor that coordinates proliferationarrest and the differentiation of myeloid progenitors, adipocytes,hepatocytes, and cells of the lung and the placenta. Bindsdirectly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3'acting as an activator on distinct target genes (PubMed:11242107).During early embryogenesis, plays essential and redundantfunctions with CEBPB. Essential for the transition from commonmyeloid progenitors (CMP) to granulocyte/monocyte progenitors(GMP). Critical for the proper development of the liver and thelung (By similarity). Necessary for terminal adipocytedifferentiation, is required for postnatal maintenance of systemicenergy homeostasis and lipid storage (By similarity). To regulatethese different processes at the proper moment and tissue,interplays with other transcription factors and modulators.Downregulates the expression of genes that maintain cells in anundifferentiated and proliferative state through E2F1 repression,which is critical for its ability to induce adipocyte andgranulocyte terminal differentiation. Reciprocally E2F1 blocksadipocyte differentiation by binding to specific promoters andrepressing CEBPA binding to its target gene promoters.Proliferation arrest also depends on a functional binding toSWI/SNF complex (PubMed:14660596). In liver, regulatesgluconeogenesis and lipogenesis through different mechanisms. Toregulate gluconeogenesis, functionally cooperates with FOXO1binding to IRE-controlled promoters and regulating the expressionof target genes such as PCK1 or G6PC. To modulate lipogenesis,interacts and transcriptionally synergizes with SREBF1 in promoteractivation of specific lipogenic target genes such as ACAS2. Inadipose tissue, seems to act as FOXO1 coactivator accessing toADIPOQ promoter through FOXO1 binding sites (By similarity).{ECO:0000250|UniProtKB:P05554, ECO:0000250|UniProtKB:P53566,ECO:0000269|PubMed:11242107, ECO:0000269|PubMed:14660596}. Isoform 3: Can act as dominant-negative. Binds DNA andhave transctivation activity, even if much less efficiently thanisoform 2. Does not inhibit cell proliferation (PubMed:14660596).{ECO:0000250|UniProtKB:P05554, ECO:0000250|UniProtKB:P53566,ECO:0000269|PubMed:14660596}. Isoform 4: Directly and specifically enhances ribosomalDNA transcription interacting with RNA polymerase I-specificcofactors and inducing histone acetylation.{ECO:0000269|PubMed:20075868}. |
| 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 ANAPC2_CEBPA |
| 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 ANAPC2_CEBPA |
| 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 |
| ANAPC2 | ANAPC11, UBE2C, ANAPC1, EP300, CREBBP, FZR1, CDC20, CDC27, IST1, UFD1L, EPHA4, GRIA1, SMARCAD1, RB1, NINL, FBXO2, RNF34, COPS5, MAD2L1, FBXO5, ANAPC5, CDC23, CDC16, ANAPC4, ANAPC7, ANAPC10, MDC1, TP53BP1, ANAPC15, HSP90AA1, SMAD2, SOX2, UBE2S, PHF8, MDM2, CDC26, PTTG1, UBE2D2, BUB1B, GRAP2, MAGIX, TTLL1, PRKDC, CDC5L, C16orf87, ANAPC13, ZNF408 | CEBPA | ATF2, NCOA6, MSX2, MYC, NR3C1, AR, ESR1, RARB, SMAD3, SMAD4, CEBPB, CDK2, CDK4, SPI1, MAPK8, JUN, GRIN3A, ZEB2, MAX, MAF, SLC25A11, SPTBN1, RPGRIP1, ZNF45, ACTN1, MRTO4, CHD1, EDF1, SMARCA4, SMARCA2, VDR, HDAC1, HDAC2, NFATC4, KAT5, MACF1, EWSR1, SP110, RB1, TRA2B, RAB34, AK5, PGAM1, MCM5, TGFB2, SMC1A, HNRNPC, SFPQ, GFAP, NAA16, CEBPA, MNT, PKN2, AKAP9, ASXL1, CAPN2, POLR1E, VPS72, RANBP2, E2F4, MPP2, NCOA3, PARP1, XRCC5, FUT1, XRCC6, ELAVL1, PIAS1, SRA1, CDKN1A, UBE3A, YY1AP1, BATF3, BATF2, BATF, ATF3, ATF4, FOS, DBP, CEBPE, ATF5, FOSL1, CEBPG, C1QBP, RASGRF1, SKP2, BHLHE41, RARA, ZBTB16, CDX1, KLF5, NR1I2, CCDC183, DDIT3, PPP2CA |
| - 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 ANAPC2_CEBPA |
| 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 ANAPC2_CEBPA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CEBPA | C0023467 | Leukemia, Myelocytic, Acute | 3 | CTD_human;HPO;UNIPROT |
| Tgene | CEBPA | C0007137 | Squamous cell carcinoma | 2 | CTD_human |
| Tgene | CEBPA | C0023487 | Acute Promyelocytic Leukemia | 2 | CTD_human |
| Tgene | CEBPA | C2239176 | Liver carcinoma | 2 | CTD_human |
| Tgene | CEBPA | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
| Tgene | CEBPA | C0021361 | Female infertility | 1 | CTD_human |
| Tgene | CEBPA | C0027666 | Neoplasms, Radiation-Induced | 1 | CTD_human |
| Tgene | CEBPA | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Tgene | CEBPA | C0037286 | Skin Neoplasms | 1 | CTD_human |
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