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Fusion gene ID: 22898 |
FusionGeneSummary for MUT_SUPT3H |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MUT_SUPT3H | Fusion gene ID: 22898 | Hgene | Tgene | Gene symbol | MUT | SUPT3H | Gene ID | 4594 | 8464 |
| Gene name | methylmalonyl-CoA mutase | SPT3 homolog, SAGA and STAGA complex component | |
| Synonyms | MCM | SPT3|SPT3L | |
| Cytomap | 6p12.3 | 6p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | methylmalonyl-CoA mutase, mitochondrialmethylmalonyl Coenzyme A mutasemethylmalonyl-CoA isomerasemethylmalonyl-CoA mutase c.*192delAmethylmalonyl-CoA mutase c.*51C>Gmethylmalonyl-CoA mutase variant c.1495G>Amethylmalonyl-CoA mutase variant c.2011A>G | transcription initiation protein SPT3 homologSPT3-like proteinsuppressor of Ty 3 homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P22033 | O75486 | |
| Ensembl transtripts involved in fusion gene | ENST00000274813, | ENST00000371460, ENST00000371459, ENST00000371461, ENST00000306867, ENST00000371458, ENST00000459689, | |
| Fusion gene scores | * DoF score | 2 X 3 X 2=12 | 15 X 7 X 9=945 |
| # samples | 2 | 15 | |
| ** MAII score | log2(2/12*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(15/945*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MUT [Title/Abstract] AND SUPT3H [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 | MUT | GO:0043547 | positive regulation of GTPase activity | 20876572|28497574 |
| Hgene | MUT | GO:0050667 | homocysteine metabolic process | 20031578 |
| Tgene | SUPT3H | GO:0016578 | histone deubiquitination | 18206972 |
| Tgene | SUPT3H | GO:0043966 | histone H3 acetylation | 11564863 |
| 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 | LUAD | TCGA-05-4420-01A | MUT | chr6 | 49430816 | - | SUPT3H | chr6 | 44988369 | - |
| TCGA | LD | LUAD | TCGA-05-4420-01A | MUT | chr6 | 49430881 | - | SUPT3H | chr6 | 44988369 | - |
| * 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 |
| 5UTR-3CDS | ENST00000274813 | ENST00000371460 | MUT | chr6 | 49430816 | - | SUPT3H | chr6 | 44988369 | - |
| 5UTR-3CDS | ENST00000274813 | ENST00000371459 | MUT | chr6 | 49430816 | - | SUPT3H | chr6 | 44988369 | - |
| 5UTR-3CDS | ENST00000274813 | ENST00000371461 | MUT | chr6 | 49430816 | - | SUPT3H | chr6 | 44988369 | - |
| 5UTR-3CDS | ENST00000274813 | ENST00000306867 | MUT | chr6 | 49430816 | - | SUPT3H | chr6 | 44988369 | - |
| 5UTR-intron | ENST00000274813 | ENST00000371458 | MUT | chr6 | 49430816 | - | SUPT3H | chr6 | 44988369 | - |
| 5UTR-intron | ENST00000274813 | ENST00000459689 | MUT | chr6 | 49430816 | - | SUPT3H | chr6 | 44988369 | - |
| intron-3CDS | ENST00000274813 | ENST00000371460 | MUT | chr6 | 49430881 | - | SUPT3H | chr6 | 44988369 | - |
| intron-3CDS | ENST00000274813 | ENST00000371459 | MUT | chr6 | 49430881 | - | SUPT3H | chr6 | 44988369 | - |
| intron-3CDS | ENST00000274813 | ENST00000371461 | MUT | chr6 | 49430881 | - | SUPT3H | chr6 | 44988369 | - |
| intron-3CDS | ENST00000274813 | ENST00000306867 | MUT | chr6 | 49430881 | - | SUPT3H | chr6 | 44988369 | - |
| intron-intron | ENST00000274813 | ENST00000371458 | MUT | chr6 | 49430881 | - | SUPT3H | chr6 | 44988369 | - |
| intron-intron | ENST00000274813 | ENST00000459689 | MUT | chr6 | 49430881 | - | SUPT3H | chr6 | 44988369 | - |
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FusionProtFeatures for MUT_SUPT3H |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MUT | SUPT3H |
| Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via propionyl-CoA to thetricarboxylic acid cycle. MCM has different functions in otherspecies. | Probable transcriptional activator.{ECO:0000269|PubMed:9787080}. |
| 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 MUT_SUPT3H |
| 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 MUT_SUPT3H |
| 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 |
| MUT | ICT1, MUT, MMAA, ARHGEF26, GRPEL2, L3HYPDH, CYP1A1, OXLD1, BPHL, NTRK1, TMEM184A, CFH | SUPT3H | MYC, TAF4, TAF5, KAT2A, TAF10, TRRAP, TAF6L, TAF5L, TADA3, TADA1, SF3B3, SUPT7L, TAF9, TAF12, DDB1, DDB2, ATXN7L3, USP22, ATXN7, TP53, KAT2B, MED1, MED16, MED17, MED13, MED12, PYGO2, TADA2B, CCDC101, SAP130, TADA2A, TCF3, HIST3H3, SUPT20H, SSSCA1, TRIM25 |
| - 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 MUT_SUPT3H |
| 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 | MUT | P22033 | DB00200 | Hydroxocobalamin | Methylmalonyl-CoA mutase, mitochondrial | small molecule | approved |
| Hgene | MUT | P22033 | DB00115 | Cyanocobalamin | Methylmalonyl-CoA mutase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for MUT_SUPT3H |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MUT | C1855114 | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | 11 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MUT | C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
| Hgene | MUT | C0028754 | Obesity | 1 | CTD_human |
| Hgene | MUT | C0268583 | Methylmalonic acidemia | 1 | CTD_human;HPO |
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