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Fusion gene ID: 1473 |
FusionGeneSummary for ALDH2_ATXN2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ALDH2_ATXN2 | Fusion gene ID: 1473 | Hgene | Tgene | Gene symbol | ALDH2 | ATXN2 | Gene ID | 217 | 6311 |
| Gene name | aldehyde dehydrogenase 2 family member | ataxin 2 | |
| Synonyms | ALDH-E2|ALDHI|ALDM | ATX2|SCA2|TNRC13 | |
| Cytomap | 12q24.12 | 12q24.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)liver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2 | ataxin-2spinocerebellar ataxia type 2 proteintrinucleotide repeat-containing gene 13 protein | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P05091 | Q99700 | |
| Ensembl transtripts involved in fusion gene | ENST00000416293, ENST00000261733, | ENST00000389153, ENST00000608853, ENST00000377617, ENST00000550104, ENST00000542287, ENST00000535949, ENST00000549455, | |
| Fusion gene scores | * DoF score | 7 X 6 X 5=210 | 10 X 10 X 5=500 |
| # samples | 7 | 13 | |
| ** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/500*10)=-1.94341647163363 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ALDH2 [Title/Abstract] AND ATXN2 [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 |
| 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 | OV | TCGA-29-1777-01A | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| * 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 | ENST00000416293 | ENST00000389153 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000416293 | ENST00000608853 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000416293 | ENST00000377617 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000416293 | ENST00000550104 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000416293 | ENST00000542287 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000416293 | ENST00000535949 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| 5CDS-intron | ENST00000416293 | ENST00000549455 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000261733 | ENST00000389153 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000261733 | ENST00000608853 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000261733 | ENST00000377617 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000261733 | ENST00000550104 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000261733 | ENST00000542287 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| Frame-shift | ENST00000261733 | ENST00000535949 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
| 5CDS-intron | ENST00000261733 | ENST00000549455 | ALDH2 | chr12 | 112204900 | + | ATXN2 | chr12 | 111908546 | - |
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FusionProtFeatures for ALDH2_ATXN2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ALDH2 | ATXN2 |
| Involved in EGFR trafficking, acting as negativeregulator of endocytic EGFR internalization at the plasmamembrane. {ECO:0000269|PubMed:18602463}. |
| 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 ALDH2_ATXN2 |
| 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 ALDH2_ATXN2 |
| 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 |
| ALDH2 | UNC119, SLC35F6, IGSF21, CRMP1, C14orf1, EIF6, HSPE1, HSPD1, UBA5, ICT1, CUL3, APP, ALDH1A1, RPL13A, SERPINB5, IGKC, ALDH1A2, ALDH6A1, FGB, SERPINA1, TF, FGG, IGHG1, IGHG3, IGHG4, APOA1, FGA, CALML5, BTRC, LDHA, LDHAL6A, LDHB, RPE, SOD2, ESD, PDCD6IP, PGM1, UQCRC2, NTRK1, HSPB2, IGHA1, RPL11, ARID1A, XRCC3, ATAD5, APC, PHB2, RAD23B, SIRT3 | ATXN2 | VHL, CHGB, SH3KBP1, SH3GL2, SH3GL3, EGFR, TSG101, PABPC1, ISG15, PARK2, CUL3, CAND1, IDH3B, NCOA4, ZNRD1, RBFOX1, ATXN1, ACTN1, ACTN2, GOLGA6L5P, KIAA1279, TDRD7, BAG6, GFI1B, GPKOW, CCT5, MDC1, SHFM1, WWOX, DDX6, MOV10, NXF1, BMI1, CELA2B, FGL1, BCAT1, SKAP1, RBFOX2, CARD8, CCNDBP1, ADA, DDX17, DDX5, DHX15, KHDRBS1, KHDRBS2, KHDRBS3, TARDBP, LSM12, PABPC4, NTRK1, RPL10, YEATS4, SEC16A, PTPN18, PTPRA, LPXN, CELF5, ELAVL2, NME2P1, ESRP1, NUFIP2, APOBEC3D, NXF2, P4HA2, FAM98A, CLASRP, ASB3, G3BP1 |
| - 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 ALDH2_ATXN2 |
| 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 |
| Hgene | ALDH2 | P05091 | DB00822 | Disulfiram | Aldehyde dehydrogenase, mitochondrial | small molecule | approved |
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RelatedDiseases for ALDH2_ATXN2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ALDH2 | C0001973 | Alcoholic Intoxication, Chronic | 7 | CTD_human;PSYGENET |
| Hgene | ALDH2 | C0001969 | Alcoholic Intoxication | 5 | PSYGENET |
| Hgene | ALDH2 | C0085762 | Alcohol abuse | 5 | PSYGENET |
| Hgene | ALDH2 | C0393756 | Hangover from alcohol | 4 | PSYGENET |
| Hgene | ALDH2 | C0236664 | Alcohol-Related Disorders | 3 | PSYGENET |
| Hgene | ALDH2 | C0004096 | Asthma | 2 | CTD_human |
| Hgene | ALDH2 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Hgene | ALDH2 | C0279626 | Squamous cell carcinoma of esophagus | 2 | CTD_human |
| Hgene | ALDH2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | ALDH2 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | ALDH2 | C0016382 | Flushing | 1 | CTD_human |
| Hgene | ALDH2 | C0021364 | Male infertility | 1 | CTD_human |
| Hgene | ALDH2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | ALDH2 | C0028796 | Dermatitis, Occupational | 1 | CTD_human |
| Hgene | ALDH2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| Hgene | ALDH2 | C0042373 | Vascular Diseases | 1 | CTD_human |
| Hgene | ALDH2 | C0242973 | Ventricular Dysfunction | 1 | CTD_human |
| Hgene | ALDH2 | C0342257 | Complications of Diabetes Mellitus | 1 | CTD_human |
| Hgene | ALDH2 | C0349464 | Wernicke-Korsakoff Syndrome | 1 | PSYGENET |
| Hgene | ALDH2 | C0520459 | Necrotizing Enterocolitis | 1 | CTD_human |
| Hgene | ALDH2 | C2674838 | ALCOHOL SENSITIVITY, ACUTE | 1 | CTD_human |
| Tgene | ATXN2 | C0087012 | Ataxia, Spinocerebellar | 2 | CTD_human |
| Tgene | ATXN2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | ATXN2 | C0339573 | Glaucoma, Primary Open Angle | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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