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Fusion gene ID: 7705 |
FusionGeneSummary for CNOT2_ANO6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CNOT2_ANO6 | Fusion gene ID: 7705 | Hgene | Tgene | Gene symbol | CNOT2 | ANO6 | Gene ID | 4848 | 196527 |
| Gene name | CCR4-NOT transcription complex subunit 2 | anoctamin 6 | |
| Synonyms | CDC36|HSPC131|NOT2|NOT2H | BDPLT7|SCTS|TMEM16F | |
| Cytomap | 12q15 | 12q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CCR4-NOT transcription complex subunit 2CCR4-associated factor 2negative regulator of transcription 2 | anoctamin-6SCAN channelsmall-conductance calcium-activated nonselective cation channeltransmembrane protein 16F | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9NZN8 | Q4KMQ2 | |
| Ensembl transtripts involved in fusion gene | ENST00000229195, ENST00000418359, ENST00000548230, ENST00000551483, | ENST00000426898, ENST00000425752, ENST00000423947, ENST00000435642, ENST00000320560, ENST00000441606, | |
| Fusion gene scores | * DoF score | 26 X 8 X 9=1872 | 4 X 4 X 4=64 |
| # samples | 25 | 4 | |
| ** MAII score | log2(25/1872*10)=-2.90458043492132 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CNOT2 [Title/Abstract] AND ANO6 [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 | CNOT2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 14707134|16712523 |
| Tgene | ANO6 | GO:0006812 | cation transport | 22946059 |
| 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 | SARC | TCGA-DX-A3LW-01A | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| * 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 |
| 5CDS-3UTR | ENST00000229195 | ENST00000426898 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000229195 | ENST00000425752 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000229195 | ENST00000423947 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000229195 | ENST00000435642 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000229195 | ENST00000320560 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000229195 | ENST00000441606 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000418359 | ENST00000426898 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000418359 | ENST00000425752 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000418359 | ENST00000423947 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000418359 | ENST00000435642 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000418359 | ENST00000320560 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| 5CDS-3UTR | ENST00000418359 | ENST00000441606 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000548230 | ENST00000426898 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000548230 | ENST00000425752 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000548230 | ENST00000423947 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000548230 | ENST00000435642 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000548230 | ENST00000320560 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000548230 | ENST00000441606 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000551483 | ENST00000426898 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000551483 | ENST00000425752 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000551483 | ENST00000423947 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000551483 | ENST00000435642 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000551483 | ENST00000320560 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
| intron-3UTR | ENST00000551483 | ENST00000441606 | CNOT2 | chr12 | 70704797 | + | ANO6 | chr12 | 45761471 | + |
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FusionProtFeatures for CNOT2_ANO6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CNOT2 | ANO6 |
| Component of the CCR4-NOT complex which is one of themajor cellular mRNA deadenylases and is linked to various cellularprocesses including bulk mRNA degradation, miRNA-mediatedrepression, translational repression during translationalinitiation and general transcription regulation. Additionalcomplex functions may be a consequence of its influence on mRNAexpression. Required for the CCR4-NOT complex structuralintegrity. Can repress transcription and may link the CCR4-NOTcomplex to transcriptional regulation; the repressive function mayspecifically involve the N-Cor repressor complex containing HDAC3,NCOR1 and NCOR2. Involved in the maintenance of emryonic stem (ES)cell identity. {ECO:0000269|PubMed:14707134,ECO:0000269|PubMed:16712523, ECO:0000269|PubMed:21299754,ECO:0000269|PubMed:22367759}. | Small-conductance calcium-activated nonselective cation(SCAN) channel which acts as a regulator of phospholipidscrambling in platelets and osteoblasts. Phospholipid scramblingresults in surface exposure of phosphatidylserine which inplatelets is essential to trigger the clotting system whereas inosteoblasts is essential for the deposition of hydroxyapatiteduring bone mineralization. Has calcium-dependent phospholipidscramblase activity; scrambles phosphatidylserine,phosphatidylcholine and galactosylceramide (By similarity). Cangenerate outwardly rectifying chloride channel currents in airwayepithelial cells and Jurkat T lymphocytes.{ECO:0000250|UniProtKB:Q6P9J9, ECO:0000269|PubMed:20056604,ECO:0000269|PubMed:21107324, ECO:0000269|PubMed:21908539,ECO:0000269|PubMed:22006324, ECO:0000269|PubMed:22946059}. |
| 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 CNOT2_ANO6 |
| 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 CNOT2_ANO6 |
| 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 |
| CNOT2 | CNOT3, CNOT1, DDB1, HDAC3, NCOR2, NCOR1, GPS2, VCP, CNOT6L, CNOT6, NLK, RNF219, CNOT8, MMP7, CAPZA2, CNOT7, WRAP73, AURKA, TNRC6C, TNRC6A, TNRC6B, AGO2, CAPZB, XPO1, CACNA2D1, DDX11, FHL2, EIF6, POLD1, UPF1, RPL12, MRPS12, RQCD1, USP24, LARP1, CNOT10, SS18L2, CNOT11, KANSL3, TMEM165, AKIP1, DDX24, WDR26, LCOR, TNKS1BP1, CNKSR3, RC3H1, NANOS2, TOB1, RIBC1, GADD45B, GPBP1L1, TEX13A, BTRC, KLKB1, GLA, NFKB1 | ANO6 | ELAVL1, POPDC2, LGALS8, LGALS9C, DLK1, FAM189A2, TCTN2, TCTN3, TMEM17, TMEM216, CTAGE5, CDC16, CDC27, ANAPC4, CDC23, LMAN2L, SLC51A, GPR114, GPR21, UPK1A, LRRC8B, MIA3, ANAPC1, ANAPC5, LEMD2, CDC26, PREB, ZNRF4 |
| - 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 CNOT2_ANO6 |
| 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 CNOT2_ANO6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ANO6 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | ANO6 | C0038013 | Ankylosing spondylitis | 1 | CTD_human |
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