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Fusion gene ID: 3580 |
FusionGeneSummary for ATXN1_NFE2L1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATXN1_NFE2L1 | Fusion gene ID: 3580 | Hgene | Tgene | Gene symbol | ATXN1 | NFE2L1 | Gene ID | 6310 | 4779 |
| Gene name | ataxin 1 | nuclear factor, erythroid 2 like 1 | |
| Synonyms | ATX1|D6S504E|SCA1 | LCR-F1|NRF1|TCF11 | |
| Cytomap | 6p22.3 | 17q21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ataxin-1alternative ataxin1spinocerebellar ataxia type 1 protein | endoplasmic reticulum membrane sensor NFE2L1NF-E2-related factor 1NFE2-related factor 1TCF-11locus control region-factor 1nuclear factor erythroid 2-related factor 1nuclear factor, erythroid derived 2, like 1protein NRF1, p120 formtranscription fa | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P54253 | Q14494 | |
| Ensembl transtripts involved in fusion gene | ENST00000244769, ENST00000436367, ENST00000467008, | ENST00000362042, ENST00000585291, ENST00000357480, ENST00000361665, ENST00000579481, ENST00000582155, ENST00000583378, ENST00000536222, | |
| Fusion gene scores | * DoF score | 20 X 12 X 9=2160 | 8 X 8 X 4=256 |
| # samples | 21 | 8 | |
| ** MAII score | log2(21/2160*10)=-3.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/256*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATXN1 [Title/Abstract] AND NFE2L1 [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 | ATXN1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15016912 |
| Hgene | ATXN1 | GO:0051168 | nuclear export | 15615787 |
| 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 |
| ChiTaRS3.1 | BE708163 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| * 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-3UTR | ENST00000244769 | ENST00000362042 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000244769 | ENST00000585291 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000244769 | ENST00000357480 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000244769 | ENST00000361665 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000244769 | ENST00000579481 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000244769 | ENST00000582155 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000244769 | ENST00000583378 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000244769 | ENST00000536222 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000436367 | ENST00000362042 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000436367 | ENST00000585291 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000436367 | ENST00000357480 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000436367 | ENST00000361665 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000436367 | ENST00000579481 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000436367 | ENST00000582155 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000436367 | ENST00000583378 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000436367 | ENST00000536222 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000467008 | ENST00000362042 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000467008 | ENST00000585291 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000467008 | ENST00000357480 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-3UTR | ENST00000467008 | ENST00000361665 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000467008 | ENST00000579481 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000467008 | ENST00000582155 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000467008 | ENST00000583378 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
| intron-intron | ENST00000467008 | ENST00000536222 | ATXN1 | chr6 | 16733384 | - | NFE2L1 | chr17 | 46138153 | - |
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FusionProtFeatures for ATXN1_NFE2L1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATXN1 | NFE2L1 |
| Chromatin-binding factor that repress Notch signaling inthe absence of Notch intracellular domain by acting as a CBF1corepressor. Binds to the HEY promoter and might assist, alongwith NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May beinvolved in RNA metabolism (PubMed:21475249). In concert with CICand ATXN1L, involved in brain development (By similarity).{ECO:0000250|UniProtKB:P54254, ECO:0000269|PubMed:21475249}. | Endoplasmic reticulum membrane sensor NFE2L1:Endoplasmic reticulum membrane sensor that translocates into thenucleus in response to various stresses to act as a transcriptionfactor (PubMed:20932482, PubMed:24448410). Constitutes a precursorof the transcription factor NRF1 (By similarity). Able to detectvarious cellular stresses, such as cholesterol excess, oxidativestress or proteasome inhibition (PubMed:20932482). In response tostress, it is released from the endoplasmic reticulum membranefollowing cleavage by the protease DDI2 and translocates into thenucleus to form the transcription factor NRF1 (By similarity).Acts as a key sensor of cholesterol excess: in excess cholesterolconditions, the endoplasmic reticulum membrane form of the proteindirectly binds cholesterol via its CRAC motif, preventing cleavageand release of the transcription factor NRF1, thereby allowingexpression of genes promoting cholesterol removal, such as CD36(By similarity). Involved in proteasome homeostasis: in responseto proteasome inhibition, it is released from the endoplasmicreticulum membrane, translocates to the nucleus and activatesexpression of genes encoding proteasome subunits(PubMed:20932482). {ECO:0000250|UniProtKB:Q61985,ECO:0000269|PubMed:20932482, ECO:0000269|PubMed:24448410}. Transcription factor NRF1: CNC-type bZIP familytranscription factor that translocates to the nucleus andregulates expression of target genes in response to variousstresses (PubMed:8932385, PubMed:9421508). Heterodimerizes withsmall-Maf proteins (MAFF, MAFG or MAFK) and binds DNA motifsincluding the antioxidant response elements (AREs), which regulateexpression of genes involved in oxidative stress response(PubMed:8932385, PubMed:9421508). Activates or repressesexpression of target genes, depending on the context(PubMed:8932385, PubMed:9421508). Plays a key role in cholesterolhomeostasis by acting as a sensor of cholesterol excess: in lowcholesterol conditions, translocates into the nucleus andrepresses expression of genes involved in defense againstcholesterol excess, such as CD36 (By similarity). In excesscholesterol conditions, the endoplasmic reticulum membrane form ofthe protein directly binds cholesterol via its CRAC motif,preventing cleavage and release of the transcription factor NRF1,thereby allowing expression of genes promoting cholesterol removal(By similarity). Critical for redox balance in response tooxidative stress: acts by binding the AREs motifs on promoters andmediating activation of oxidative stress response genes, such asGCLC, GCLM, GSS, MT1 and MT2 (By similarity). Plays an essentialrole during fetal liver hematopoiesis: probably has a protectivefunction against oxidative stress and is involved in lipidhomeostasis in the liver (By similarity). Involved in proteasomehomeostasis: in response to proteasome inhibition, mediates the'bounce-back' of proteasome subunits by translocating into thenucleus and activating expression of genes encoding proteasomesubunits (PubMed:20932482). Also involved in regulating glucoseflux (By similarity). Together with CEBPB; represses expression ofDSPP during odontoblast differentiation (PubMed:15308669). Inresponse to ascorbic acid induction, activates expression ofSP7/Osterix in osteoblasts. {ECO:0000250|UniProtKB:Q61985,ECO:0000269|PubMed:15308669, ECO:0000269|PubMed:20932482,ECO:0000269|PubMed:8932385, ECO:0000269|PubMed:9421508}. |
| 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 ATXN1_NFE2L1 |
| 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 ATXN1_NFE2L1 |
| 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 |
| - 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 ATXN1_NFE2L1 |
| 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 ATXN1_NFE2L1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATXN1 | C0087012 | Ataxia, Spinocerebellar | 4 | CTD_human;HPO |
| Hgene | ATXN1 | C2362914 | clinical depression | 1 | PSYGENET |
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