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Fusion gene ID: 22826 |
FusionGeneSummary for MTRR_FASTKD3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MTRR_FASTKD3 | Fusion gene ID: 22826 | Hgene | Tgene | Gene symbol | MTRR | FASTKD3 | Gene ID | 4552 | 79072 |
| Gene name | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | FAST kinase domains 3 | |
| Synonyms | MSR|cblE | - | |
| Cytomap | 5p15.31 | 5p15.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | methionine synthase reductase[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)methionine synthase reductase, mitochondrial | FAST kinase domain-containing protein 3, mitochondrial | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9UBK8 | Q14CZ7 | |
| Ensembl transtripts involved in fusion gene | ENST00000502509, ENST00000264668, ENST00000341013, ENST00000440940, | ENST00000264669, ENST00000513658, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 3 X 1 X 3=9 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MTRR [Title/Abstract] AND FASTKD3 [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 | MTRR | GO:0009086 | methionine biosynthetic process | 11466310 |
| Hgene | MTRR | GO:0043418 | homocysteine catabolic process | 11466310 |
| Hgene | MTRR | GO:0046655 | folic acid metabolic process | 11466310 |
| Hgene | MTRR | GO:1904042 | negative regulation of cystathionine beta-synthase activity | 24416422 |
| Tgene | FASTKD3 | GO:0033617 | mitochondrial respiratory chain complex IV assembly | 27789713 |
| Tgene | FASTKD3 | GO:0044528 | regulation of mitochondrial mRNA stability | 27789713 |
| Tgene | FASTKD3 | GO:0070131 | positive regulation of mitochondrial translation | 27789713 |
| 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 | SKCM | TCGA-EB-A44R-06A | MTRR | chr5 | 7897360 | + | FASTKD3 | chr5 | 7866096 | - |
| * 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 | ENST00000502509 | ENST00000264669 | MTRR | chr5 | 7897360 | + | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000502509 | ENST00000513658 | MTRR | chr5 | 7897360 | + | FASTKD3 | chr5 | 7866096 | - |
| Frame-shift | ENST00000264668 | ENST00000264669 | MTRR | chr5 | 7897360 | + | FASTKD3 | chr5 | 7866096 | - |
| 5CDS-5UTR | ENST00000264668 | ENST00000513658 | MTRR | chr5 | 7897360 | + | FASTKD3 | chr5 | 7866096 | - |
| intron-3CDS | ENST00000341013 | ENST00000264669 | MTRR | chr5 | 7897360 | + | FASTKD3 | chr5 | 7866096 | - |
| intron-5UTR | ENST00000341013 | ENST00000513658 | MTRR | chr5 | 7897360 | + | FASTKD3 | chr5 | 7866096 | - |
| Frame-shift | ENST00000440940 | ENST00000264669 | MTRR | chr5 | 7897360 | + | FASTKD3 | chr5 | 7866096 | - |
| 5CDS-5UTR | ENST00000440940 | ENST00000513658 | MTRR | chr5 | 7897360 | + | FASTKD3 | chr5 | 7866096 | - |
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FusionProtFeatures for MTRR_FASTKD3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MTRR | FASTKD3 |
| Involved in the reductive regeneration of cob(I)alamin(vitamin B12) cofactor required for the maintenance of methioninesynthase in a functional state. Necessary for utilization ofmethylgroups from the folate cycle, thereby affectingtransgenerational epigenetic inheritance. Folate pathway donatesmethyl groups necessary for cellular methylation and affectsdifferent pathways such as DNA methylation, possibly explainingthe transgenerational epigenetic inheritance effects.{ECO:0000269|PubMed:17892308}. | Required for normal mitochondrial respiration(PubMed:20869947). Increases steady-state levels and half-lives ofa subset of mature mitochondrial mRNAs MT-ND2, MT-ND3, MT-CYTB,MT-CO2, and MT-ATP8/6. Promotes MT-CO1 mRNA translation andincreases mitochondrial complex IV assembly and activity(PubMed:27789713). {ECO:0000269|PubMed:20869947,ECO:0000269|PubMed:27789713}. |
| 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 MTRR_FASTKD3 |
| 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 MTRR_FASTKD3 |
| 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 |
| MTRR | ELAVL1, FH, HIST1H2AG, PAPSS1, GMCL1, SMS, UBA6, ATM, KIF2A, TSNAX | FASTKD3 | VHL, MAGEA12, AGTRAP, FAM9B, BSG, SPACA1, KIR2DS2, PLAUR, SIAE, LAMP3, VTN, MUC20, SLAMF1, NPY2R |
| - 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 MTRR_FASTKD3 |
| 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 | MTRR | Q9UBK8 | DB00200 | Hydroxocobalamin | Methionine synthase reductase | small molecule | approved |
| Hgene | MTRR | Q9UBK8 | DB00115 | Cyanocobalamin | Methionine synthase reductase | small molecule | approved|nutraceutical |
| Hgene | MTRR | Q9UBK8 | DB00134 | Methionine | Methionine synthase reductase | small molecule | approved|nutraceutical |
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RelatedDiseases for MTRR_FASTKD3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MTRR | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| Hgene | MTRR | C0019880 | Homocystinuria | 2 | CTD_human;HPO |
| Hgene | MTRR | C0598608 | Hyperhomocysteinemia | 2 | CTD_human |
| Hgene | MTRR | C0001430 | Adenoma | 1 | CTD_human |
| Hgene | MTRR | C0021364 | Male infertility | 1 | CTD_human |
| Hgene | MTRR | C0027765 | nervous system disorder | 1 | CTD_human |
| Hgene | MTRR | C0041755 | Adverse reaction to drug | 1 | CTD_human |
| Hgene | MTRR | C1856057 | Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MTRR | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
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