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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:MTR-CCAR1 (FusionGDB2 ID:55533) |
Fusion Gene Summary for MTR-CCAR1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MTR-CCAR1 | Fusion gene ID: 55533 | Hgene | Tgene | Gene symbol | MTR | CCAR1 | Gene ID | 4548 | 55749 |
| Gene name | 5-methyltetrahydrofolate-homocysteine methyltransferase | cell division cycle and apoptosis regulator 1 | |
| Synonyms | HMAG|MS|cblG | - | |
| Cytomap | 1q43 | 10q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | methionine synthase5-methyltetrahydrofolate-homocysteine methyltransferase 1cobalamin-dependent methionine synthasevitamin-B12 dependent methionine synthase | cell division cycle and apoptosis regulator protein 1cell cycle and apoptosis regulatory protein 1death inducer with SAP domain | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q8IX12 | |
| Ensembl transtripts involved in fusion gene | ENST00000366577, ENST00000418145, ENST00000535889, ENST00000470570, | ENST00000535016, ENST00000265872, ENST00000543719, ENST00000483264, | |
| Fusion gene scores | * DoF score | 6 X 6 X 3=108 | 5 X 6 X 3=90 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/108*10)=-0.625604485218502 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MTR [Title/Abstract] AND CCAR1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MTR(237061603)-CCAR1(70531012), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | CCAR1 | GO:0043065 | positive regulation of apoptotic process | 12816952 |
| Fusion gene breakpoints across MTR (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across CCAR1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | AW841012 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| ChiTaRS5.0 | N/A | AW841013 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
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Fusion Gene ORF analysis for MTR-CCAR1 |
| 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 | ENST00000535016 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| 3UTR-3CDS | ENST00000366577 | ENST00000265872 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| 3UTR-3CDS | ENST00000366577 | ENST00000543719 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| 3UTR-intron | ENST00000366577 | ENST00000483264 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| intron-3CDS | ENST00000418145 | ENST00000535016 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| intron-3CDS | ENST00000418145 | ENST00000265872 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| intron-3CDS | ENST00000418145 | ENST00000543719 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| intron-intron | ENST00000418145 | ENST00000483264 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| intron-3CDS | ENST00000535889 | ENST00000535016 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| intron-3CDS | ENST00000535889 | ENST00000265872 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| intron-3CDS | ENST00000535889 | ENST00000543719 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| intron-intron | ENST00000535889 | ENST00000483264 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| 3UTR-3CDS | ENST00000470570 | ENST00000535016 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| 3UTR-3CDS | ENST00000470570 | ENST00000265872 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| 3UTR-3CDS | ENST00000470570 | ENST00000543719 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| 3UTR-intron | ENST00000470570 | ENST00000483264 | MTR | chr1 | 237061603 | + | CCAR1 | chr10 | 70531012 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for MTR-CCAR1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for MTR-CCAR1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | CCAR1 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (PubMed:12816952). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938). {ECO:0000250|UniProtKB:Q8CH18, ECO:0000269|PubMed:12816952, ECO:0000269|PubMed:23887938, ECO:0000269|PubMed:24245781}. |
| 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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Fusion Gene Sequence for MTR-CCAR1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for MTR-CCAR1 |
| 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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Related Drugs for MTR-CCAR1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for MTR-CCAR1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MTR | C1855128 | Methylcobalamin Deficiency, CblG Type | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | MTR | C0011570 | Mental Depression | 2 | PSYGENET |
| Hgene | MTR | C0011581 | Depressive disorder | 2 | PSYGENET |
| Hgene | MTR | C0013221 | Drug toxicity | 2 | CTD_human |
| Hgene | MTR | C0041755 | Adverse reaction to drug | 2 | CTD_human |
| Hgene | MTR | C0001969 | Alcoholic Intoxication | 1 | PSYGENET |
| Hgene | MTR | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | MTR | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
| Hgene | MTR | C0008924 | Cleft upper 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 | C0036572 | Seizures | 1 | GENOMICS_ENGLAND |
| Hgene | MTR | C0079745 | Lymphoma, Large-Cell, Follicular | 1 | CTD_human |
| Hgene | MTR | C0079758 | Lymphoma, Mixed-Cell, Follicular | 1 | CTD_human |
| Hgene | MTR | C0079765 | Lymphoma, Small Cleaved-Cell, Follicular | 1 | CTD_human |
| Hgene | MTR | C0162429 | Malnutrition | 1 | CTD_human |
| Hgene | MTR | C0268611 | Arakawa syndrome 2 | 1 | GENOMICS_ENGLAND |
| Hgene | MTR | C0270612 | Leukoencephalopathy | 1 | CTD_human |
| Hgene | MTR | C0559031 | Functional Gastrointestinal Disorders | 1 | CTD_human |
| Hgene | MTR | C0588008 | Severe depression | 1 | PSYGENET |
| Hgene | MTR | C0678222 | Breast Carcinoma | 1 | CTD_human |
| Hgene | MTR | C0848676 | Subfertility, Male | 1 | CTD_human |
| Hgene | MTR | C0917731 | Male sterility | 1 | CTD_human |
| Hgene | MTR | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Hgene | MTR | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | MTR | C1565321 | Cholera Infantum | 1 | CTD_human |
| Hgene | MTR | C1837218 | Cleft palate, isolated | 1 | CTD_human |
| Hgene | MTR | C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | 1 | CTD_human |
| Hgene | MTR | C1866558 | Neural tube defect, folate-sensitive | 1 | CTD_human;GENOMICS_ENGLAND |
| Hgene | MTR | C1956130 | Lymphoma, Follicular, Grade 1 | 1 | CTD_human |
| Hgene | MTR | C1956131 | Lymphoma, Follicular, Grade 3 | 1 | CTD_human |
| Hgene | MTR | C1956132 | Lymphoma, Follicular, Grade 2 | 1 | CTD_human |
| Hgene | MTR | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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