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Fusion gene ID: 22829 |
FusionGeneSummary for MTR_CC2D2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MTR_CC2D2A | Fusion gene ID: 22829 | Hgene | Tgene | Gene symbol | MTR | CC2D2A | Gene ID | 4548 | 57545 |
| Gene name | 5-methyltetrahydrofolate-homocysteine methyltransferase | coiled-coil and C2 domain containing 2A | |
| Synonyms | HMAG|MS|cblG | JBTS9|MKS6 | |
| Cytomap | 1q43 | 4p15.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | methionine synthase5-methyltetrahydrofolate-homocysteine methyltransferase 1cobalamin-dependent methionine synthasevitamin-B12 dependent methionine synthase | coiled-coil and C2 domain-containing protein 2A | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q99707 | Q9P2K1 | |
| Ensembl transtripts involved in fusion gene | ENST00000366577, ENST00000418145, ENST00000535889, ENST00000470570, | ENST00000424120, ENST00000413206, ENST00000503292, ENST00000389652, ENST00000438599, ENST00000511544, ENST00000513811, ENST00000507954, ENST00000515124, ENST00000503658, | |
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 4 X 4 X 2=32 |
| # samples | 6 | 4 | |
| ** MAII score | log2(6/50*10)=0.263034405833794 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MTR [Title/Abstract] AND CC2D2A [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 |
| ChiTaRS3.1 | BE767082 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| * 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 |
| 3UTR-3CDS | ENST00000366577 | ENST00000424120 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| 3UTR-3CDS | ENST00000366577 | ENST00000413206 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| 3UTR-3CDS | ENST00000366577 | ENST00000503292 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| 3UTR-3CDS | ENST00000366577 | ENST00000389652 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| 3UTR-intron | ENST00000366577 | ENST00000438599 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| 3UTR-intron | ENST00000366577 | ENST00000511544 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| 3UTR-3UTR | ENST00000366577 | ENST00000513811 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| 3UTR-intron | ENST00000366577 | ENST00000507954 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| 3UTR-intron | ENST00000366577 | ENST00000515124 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| 3UTR-intron | ENST00000366577 | ENST00000503658 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000418145 | ENST00000424120 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000418145 | ENST00000413206 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000418145 | ENST00000503292 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000418145 | ENST00000389652 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000418145 | ENST00000438599 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000418145 | ENST00000511544 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3UTR | ENST00000418145 | ENST00000513811 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000418145 | ENST00000507954 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000418145 | ENST00000515124 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000418145 | ENST00000503658 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000535889 | ENST00000424120 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000535889 | ENST00000413206 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000535889 | ENST00000503292 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000535889 | ENST00000389652 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000535889 | ENST00000438599 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000535889 | ENST00000511544 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3UTR | ENST00000535889 | ENST00000513811 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000535889 | ENST00000507954 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000535889 | ENST00000515124 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000535889 | ENST00000503658 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000470570 | ENST00000424120 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000470570 | ENST00000413206 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000470570 | ENST00000503292 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3CDS | ENST00000470570 | ENST00000389652 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000470570 | ENST00000438599 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000470570 | ENST00000511544 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-3UTR | ENST00000470570 | ENST00000513811 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000470570 | ENST00000507954 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000470570 | ENST00000515124 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
| intron-intron | ENST00000470570 | ENST00000503658 | MTR | chr1 | 237064437 | - | CC2D2A | chr4 | 15512966 | - |
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FusionProtFeatures for MTR_CC2D2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MTR | CC2D2A |
| Catalyzes the transfer of a methyl group from methyl-cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin andmethionine. Subsequently, remethylates the cofactor usingmethyltetrahydrofolate (By similarity). {ECO:0000250}. | Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. Required for ciliogenesis andsonic hedgehog/SHH signaling (By similarity). {ECO:0000250,ECO:0000269|PubMed:18513680}. |
| 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 MTR_CC2D2A |
| 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 MTR_CC2D2A |
| 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 MTR_CC2D2A |
| 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 | MTR | Q99707 | DB00200 | Hydroxocobalamin | Methionine synthase | small molecule | approved |
| Hgene | MTR | Q99707 | DB11590 | Thimerosal | Methionine synthase | small molecule | approved |
| Hgene | MTR | Q99707 | DB00115 | Cyanocobalamin | Methionine synthase | small molecule | approved|nutraceutical |
| Hgene | MTR | Q99707 | DB00134 | Methionine | Methionine synthase | small molecule | approved|nutraceutical |
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RelatedDiseases for MTR_CC2D2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MTR | C0011570 | Mental Depression | 2 | PSYGENET |
| Hgene | MTR | C0011581 | Depressive disorder | 2 | PSYGENET |
| Hgene | MTR | C0041755 | Adverse reaction to drug | 2 | CTD_human |
| Hgene | MTR | C1855128 | Methylcobalamin Deficiency, CblG Type | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MTR | C0001969 | Alcoholic Intoxication | 1 | PSYGENET |
| Hgene | MTR | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | MTR | C0008924 | Cleft Lip | 1 | CTD_human |
| Hgene | MTR | C0008925 | Cleft Palate | 1 | CTD_human |
| Hgene | MTR | C0017178 | Gastrointestinal Diseases | 1 | CTD_human |
| Hgene | MTR | C0018939 | Hematological Disease | 1 | CTD_human |
| Hgene | MTR | C0021364 | Male infertility | 1 | CTD_human |
| Hgene | MTR | C0024299 | Lymphoma | 1 | CTD_human |
| Hgene | MTR | C0024301 | Lymphoma, Follicular | 1 | CTD_human |
| Hgene | MTR | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | MTR | C0162429 | Malnutrition | 1 | CTD_human |
| Hgene | MTR | C0270612 | Leukoencephalopathies | 1 | CTD_human |
| Hgene | MTR | C0588008 | Severe depression | 1 | PSYGENET |
| Hgene | MTR | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | CC2D2A | C2676788 | JOUBERT SYNDROME 9 (disorder) | 8 | CTD_human;UNIPROT |
| Tgene | CC2D2A | C1857662 | COACH syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CC2D2A | C2676790 | MECKEL SYNDROME, TYPE 6 (disorder) | 2 | CTD_human;UNIPROT |
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