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Fusion gene ID: 15123 |
FusionGeneSummary for GOT2_HTT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GOT2_HTT | Fusion gene ID: 15123 | Hgene | Tgene | Gene symbol | GOT2 | HTT | Gene ID | 2806 | 6532 |
| Gene name | glutamic-oxaloacetic transaminase 2 | solute carrier family 6 member 4 | |
| Synonyms | KAT4|KATIV|KYAT4|mitAAT | 5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT | |
| Cytomap | 16q21 | 17q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aspartate aminotransferase, mitochondrialFABP-1FABPpmaspartate aminotransferase 2aspartate transaminase 2fatty acid-binding proteinglutamate oxaloacetate transaminase 2glutamic-oxaloacetic transaminase 2, mitochondrialkynurenine aminotransferase 4 | sodium-dependent serotonin transporter5-hydroxytryptamine (serotonin) transporter5HT transporterNa+/Cl- dependent serotonin transporterserotonin transporter 1solute carrier family 6 (neurotransmitter transporter), member 4solute carrier family 6 (ne | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P00505 | P42858 | |
| Ensembl transtripts involved in fusion gene | ENST00000245206, ENST00000434819, ENST00000564400, | ENST00000355072, ENST00000513806, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 8 X 4=224 |
| # samples | 2 | 8 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GOT2 [Title/Abstract] AND HTT [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 | GOT2 | GO:0006533 | aspartate catabolic process | 2567216 |
| Hgene | GOT2 | GO:0045471 | response to ethanol | 9537447 |
| Tgene | HTT | GO:0006837 | serotonin transport | 19270731 |
| Tgene | HTT | GO:0009636 | response to toxic substance | 17575980 |
| Tgene | HTT | GO:0015844 | monoamine transport | 16024787 |
| Tgene | HTT | GO:0051610 | serotonin uptake | 8987735|16870614|17506858|18227069|19270731 |
| 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 | BQ337855 | GOT2 | chr16 | 58752121 | - | HTT | chr4 | 3209030 | + |
| * 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 | ENST00000245206 | ENST00000355072 | GOT2 | chr16 | 58752121 | - | HTT | chr4 | 3209030 | + |
| intron-intron | ENST00000245206 | ENST00000513806 | GOT2 | chr16 | 58752121 | - | HTT | chr4 | 3209030 | + |
| intron-3CDS | ENST00000434819 | ENST00000355072 | GOT2 | chr16 | 58752121 | - | HTT | chr4 | 3209030 | + |
| intron-intron | ENST00000434819 | ENST00000513806 | GOT2 | chr16 | 58752121 | - | HTT | chr4 | 3209030 | + |
| intron-3CDS | ENST00000564400 | ENST00000355072 | GOT2 | chr16 | 58752121 | - | HTT | chr4 | 3209030 | + |
| intron-intron | ENST00000564400 | ENST00000513806 | GOT2 | chr16 | 58752121 | - | HTT | chr4 | 3209030 | + |
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FusionProtFeatures for GOT2_HTT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GOT2 | HTT |
| Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA).Plays a key role in amino acid metabolism. Important formetabolite exchange between mitochondria and cytosol. Facilitatescellular uptake of long-chain free fatty acids.{ECO:0000269|PubMed:9537447}. | May play a role in microtubule-mediated transport orvesicle function. |
| 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 GOT2_HTT |
| 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 GOT2_HTT |
| 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 GOT2_HTT |
| 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 | GOT2 | P00505 | DB00114 | Pyridoxal Phosphate | Aspartate aminotransferase, mitochondrial | small molecule | approved|investigational|nutraceutical |
| Hgene | GOT2 | P00505 | DB00142 | Glutamic Acid | Aspartate aminotransferase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for GOT2_HTT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HTT | C0020179 | Huntington Disease | 9 | CTD_human;ORPHANET |
| Tgene | HTT | C0011570 | Mental Depression | 4 | PSYGENET |
| Tgene | HTT | C0011581 | Depressive disorder | 4 | HPO;PSYGENET |
| Tgene | HTT | C0525045 | Mood Disorders | 2 | PSYGENET |
| Tgene | HTT | C0006635 | Cadmium poisoning | 1 | CTD_human |
| Tgene | HTT | C0026650 | Movement Disorders | 1 | CTD_human;HPO |
| Tgene | HTT | C0677050 | Manganese Poisoning | 1 | CTD_human |
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