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Fusion gene ID: 491 |
FusionGeneSummary for ACSM2B_CYP3A4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACSM2B_CYP3A4 | Fusion gene ID: 491 | Hgene | Tgene | Gene symbol | ACSM2B | CYP3A4 | Gene ID | 348158 | 1576 |
| Gene name | acyl-CoA synthetase medium chain family member 2B | cytochrome P450 family 3 subfamily A member 4 | |
| Synonyms | ACSM2|HXMA|HYST1046 | CP33|CP34|CYP3A|CYP3A3|CYPIIIA3|CYPIIIA4|HLP|NF-25|P450C3|P450PCN1 | |
| Cytomap | 16p12.3 | 7q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | acyl-coenzyme A synthetase ACSM2B, mitochondrialacyl-CoA synthetase medium-chain family member 2butyrate--CoA ligase 2Bbutyryl-coenzyme A synthetase 2Bmiddle-chain acyl-CoA synthetase 2Bxenobiotic/medium-chain fatty acid-CoA ligase HXM-Axenobiotic/m | cytochrome P450 3A41,8-cineole 2-exo-monooxygenaseP450-III, steroid induciblealbendazole monooxygenasealbendazole sulfoxidasecholesterol 25-hydroxylasecytochrome P450 3A3cytochrome P450 HLpcytochrome P450 NF-25cytochrome P450, family 3, subfamily | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q68CK6 | P08684 | |
| Ensembl transtripts involved in fusion gene | ENST00000329697, ENST00000565322, ENST00000565232, ENST00000567001, ENST00000414188, ENST00000567288, | ENST00000354593, ENST00000336411, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 4 X 3=48 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ACSM2B [Title/Abstract] AND CYP3A4 [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 |
| Tgene | CYP3A4 | GO:0002933 | lipid hydroxylation | 14559847 |
| Tgene | CYP3A4 | GO:0008202 | steroid metabolic process | 14559847 |
| Tgene | CYP3A4 | GO:0009822 | alkaloid catabolic process | 15039299 |
| Tgene | CYP3A4 | GO:0016098 | monoterpenoid metabolic process | 16401082 |
| Tgene | CYP3A4 | GO:0017144 | drug metabolic process | 15327587|19219744 |
| Tgene | CYP3A4 | GO:0042737 | drug catabolic process | 15039299 |
| Tgene | CYP3A4 | GO:0042738 | exogenous drug catabolic process | 18619574 |
| Tgene | CYP3A4 | GO:0046483 | heterocycle metabolic process | 15327587 |
| Tgene | CYP3A4 | GO:0055114 | oxidation-reduction process | 16401082|19219744 |
| Tgene | CYP3A4 | GO:0070989 | oxidative demethylation | 15039299|18619574 |
| 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 | CB162303 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| * 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-intron | ENST00000329697 | ENST00000354593 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000329697 | ENST00000336411 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000565322 | ENST00000354593 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000565322 | ENST00000336411 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000565232 | ENST00000354593 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000565232 | ENST00000336411 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000567001 | ENST00000354593 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000567001 | ENST00000336411 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000414188 | ENST00000354593 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000414188 | ENST00000336411 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000567288 | ENST00000354593 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
| intron-intron | ENST00000567288 | ENST00000336411 | ACSM2B | chr16 | 20548553 | + | CYP3A4 | chr7 | 99359055 | - |
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FusionProtFeatures for ACSM2B_CYP3A4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACSM2B | CYP3A4 |
| Has medium-chain fatty acid:CoA ligase activity withbroad substrate specificity (in vitro). Acts on acids from C(4) toC(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro). {ECO:0000269|PubMed:12616642}. | Cytochromes P450 are a group of heme-thiolatemonooxygenases. In liver microsomes, this enzyme is involved in anNADPH-dependent electron transport pathway. It performs a varietyof oxidation reactions (e.g. caffeine 8-oxidation, omeprazolesulphoxidation, midazolam 1'-hydroxylation and midazolam 4-hydroxylation) of structurally unrelated compounds, includingsteroids, fatty acids, and xenobiotics. Acts as a 1,8-cineole 2-exo-monooxygenase. The enzyme also hydroxylates etoposide(PubMed:11159812). Catalyzes 4-beta-hydroxylation of cholesterol.May catalyze 25-hydroxylation of cholesterol in vitro(PubMed:21576599). {ECO:0000269|PubMed:11159812,ECO:0000269|PubMed:21576599}. |
| 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 ACSM2B_CYP3A4 |
| 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 ACSM2B_CYP3A4 |
| 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 ACSM2B_CYP3A4 |
| 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 |
| Tgene | CYP3A4 | P08684 | DB01267 | Paliperidone | Cytochrome P450 3A4 | small molecule | approved |
| Tgene | CYP3A4 | P08684 | DB00951 | Isoniazid | Cytochrome P450 3A4 | small molecule | approved|investigational |
| Tgene | CYP3A4 | P08684 | DB11994 | Diacerein | Cytochrome P450 3A4 | small molecule | approved|investigational |
| Tgene | CYP3A4 | P08684 | DB00143 | Glutathione | Cytochrome P450 3A4 | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for ACSM2B_CYP3A4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CYP3A4 | C0019196 | Hepatitis C | 1 | CTD_human |
| Tgene | CYP3A4 | C0029463 | Osteosarcoma | 1 | CTD_human |
| Tgene | CYP3A4 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | CYP3A4 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | CYP3A4 | C0040479 | Torsades de Pointes | 1 | CTD_human |
| Tgene | CYP3A4 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
| Tgene | CYP3A4 | C0221765 | Chronic schizophrenia | 1 | PSYGENET |
| Tgene | CYP3A4 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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