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Fusion gene ID: 71 |
FusionGeneSummary for AATF_FTL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AATF_FTL | Fusion gene ID: 71 | Hgene | Tgene | Gene symbol | AATF | FTL | Gene ID | 26574 | 2512 |
| Gene name | apoptosis antagonizing transcription factor | ferritin light chain | |
| Synonyms | BFR2|CHE-1|CHE1|DED | LFTD|NBIA3 | |
| Cytomap | 17q12 | 19q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein AATFrb-binding protein Che-1 | ferritin light chainferritin L subunitferritin L-chainferritin light polypeptide-like 3ferritin, light polypeptide | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NY61 | P02792 | |
| Ensembl transtripts involved in fusion gene | ENST00000225402, ENST00000590321, | ENST00000331825, | |
| Fusion gene scores | * DoF score | 13 X 8 X 7=728 | 15 X 14 X 3=630 |
| # samples | 13 | 19 | |
| ** MAII score | log2(13/728*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/630*10)=-1.72935241005633 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AATF [Title/Abstract] AND FTL [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 | AATF | GO:0032929 | negative regulation of superoxide anion generation | 15207272 |
| Hgene | AATF | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18049476 |
| Hgene | AATF | GO:2000378 | negative regulation of reactive oxygen species metabolic process | 15207272 |
| 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 | LUSC | TCGA-O2-A52S-01A | AATF | chr17 | 35378313 | + | FTL | chr19 | 49468566 | + |
| * 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-5UTR | ENST00000225402 | ENST00000331825 | AATF | chr17 | 35378313 | + | FTL | chr19 | 49468566 | + |
| intron-5UTR | ENST00000590321 | ENST00000331825 | AATF | chr17 | 35378313 | + | FTL | chr19 | 49468566 | + |
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FusionProtFeatures for AATF_FTL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AATF | FTL |
| May function as a general inhibitor of the histonedeacetylase HDAC1. Binding to the pocket region of RB1 maydisplace HDAC1 from RB1/E2F complexes, leading to activation ofE2F target genes and cell cycle progression. Conversely,displacement of HDAC1 from SP1 bound to the CDKN1A promoter leadsto increased expression of this CDK inhibitor and blocks cellcycle progression. Also antagonizes PAWR mediated induction ofaberrant amyloid peptide production in Alzheimer disease(presenile and senile dementia), although the molecular basis forthis phenomenon has not been described to date.{ECO:0000269|PubMed:12450794, ECO:0000269|PubMed:12847090,ECO:0000269|PubMed:14627703, ECO:0000269|PubMed:15207272}. |
| 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 AATF_FTL |
| 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 AATF_FTL |
| 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 |
| AATF | RB1, MPP6, DAZAP2, LDOC1, MAPT, PAWR, SP1, RBL2, RBL1, POLR2J, LZTR1, SS18L1, PCBD2, MAGED1, CHEK2, RELA, SIRT7, MDM2, PIN1, CAND1, MMS19, CPD, EFNB3, SMAD3, NEDD4L, ZNF468, LIN28A, HIPK2, AR, DAPK3, TSG101, NGDN, NXF1, OBSL1, BTRC, FBXW11, RPS2, RPS8, DDX56, EBNA1BP2, ESF1, KRR1, NOL10, TBL3, WDR36, BRIX1, DDX52, KIAA0020, KRI1, MPHOSPH10, NOC2L, NOL6, RPF2, SCARNA22, IFI16, CEP164, XPO1, HNRNPU, RPL10, RTEL1, AURKA, CDC14B, FGF8, ZNF324B, ZNF2, FOXA1 | FTL | MPP6, FTH1, FTL, SPINK7, MAP3K12, TAF10, PTN, KNG1, UCHL5, RAP2A, GRB2, PIK3CA, CLEC4G, MYOC, TOX4, HSPD1, HSP90AB3P, POLR2D, EIF4G1, PPP1CC, VKORC1, HTT, NAMPT, SMAD9, IGSF8, COL4A3BP, PACSIN2, AURKA, CEP250, CEP57, KPNA3, MYOG, SDCBP, USHBP1, ZDHHC17, POLR2M, LUC7L, LUC7L2, HERC2, NCOA4, NKAP, SREK1IP1, ZCCHC17, ZNF263, ZNF558, GLTSCR2, ZNF133, MTNR1B |
| - 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 AATF_FTL |
| 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 AATF_FTL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FTL | C0011581 | Depressive disorder | 1 | CTD_human |
| Tgene | FTL | C0012715 | Iron Metabolism Disorders | 1 | CTD_human |
| Tgene | FTL | C0022548 | Keloid | 1 | CTD_human |
| Tgene | FTL | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Tgene | FTL | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | FTL | C0028754 | Obesity | 1 | CTD_human |
| Tgene | FTL | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Tgene | FTL | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Tgene | FTL | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Tgene | FTL | C0751870 | Heredodegenerative Disorders, Nervous System | 1 | CTD_human |
| Tgene | FTL | C1833213 | Hyperferritinemia, hereditary, with congenital cataracts | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | FTL | C1853578 | Neuroferritinopathy | 1 | CTD_human;ORPHANET;UNIPROT |
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