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Fusion gene ID: 22766 |
FusionGeneSummary for MTHFS_ACAN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MTHFS_ACAN | Fusion gene ID: 22766 | Hgene | Tgene | Gene symbol | MTHFS | ACAN | Gene ID | 10588 | 176 |
| Gene name | methenyltetrahydrofolate synthetase | aggrecan | |
| Synonyms | HsT19268 | AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK|SSOAOD | |
| Cytomap | 15q25.1 | 15q26.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 5-formyltetrahydrofolate cyclo-ligase5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)methenyl-THF synthetase | aggrecan core proteincartilage-specific proteoglycan core proteinchondroitin sulfate proteoglycan core protein 1large aggregating proteoglycan | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P49914 | ||
| Ensembl transtripts involved in fusion gene | ENST00000258874, ENST00000559722, | ENST00000439576, ENST00000558207, ENST00000559004, ENST00000352105, ENST00000561243, | |
| Fusion gene scores | * DoF score | 3 X 2 X 4=24 | 5 X 5 X 3=75 |
| # samples | 5 | 5 | |
| ** MAII score | log2(5/24*10)=1.05889368905357 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MTHFS [Title/Abstract] AND ACAN [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 | MTHFS | GO:0046653 | tetrahydrofolate metabolic process | 7766710|19738041 |
| 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 | STAD | TCGA-IN-8462-01A | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| * 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 |
| In-frame | ENST00000258874 | ENST00000439576 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| 5CDS-intron | ENST00000258874 | ENST00000558207 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| 5CDS-intron | ENST00000258874 | ENST00000559004 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| 5CDS-intron | ENST00000258874 | ENST00000352105 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| 5CDS-intron | ENST00000258874 | ENST00000561243 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| Frame-shift | ENST00000559722 | ENST00000439576 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| 5CDS-intron | ENST00000559722 | ENST00000558207 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| 5CDS-intron | ENST00000559722 | ENST00000559004 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| 5CDS-intron | ENST00000559722 | ENST00000352105 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
| 5CDS-intron | ENST00000559722 | ENST00000561243 | MTHFS | chr15 | 80181435 | - | ACAN | chr15 | 89414613 | + |
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FusionProtFeatures for MTHFS_ACAN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MTHFS | ACAN |
| Contributes to tetrahydrofolate metabolism. Helpsregulate carbon flow through the folate-dependent one-carbonmetabolic network that supplies carbon for the biosynthesis ofpurines, thymidine and amino acids. Catalyzes the irreversibleconversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate. {ECO:0000269|PubMed:8522195}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 |
| Hgene | MTHFS | chr15:80181435 | chr15:89414613 | ENST00000258874 | - | 2 | 3 | 10_14 | 126 | 204 | Nucleotide binding | Note=ATP |
| - 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 |
| Hgene | >MTHFS | chr15:80181435 | chr15:89414613 | ENST00000258874 | - | 2 | 3 | 145_153 | 126 | 204 | Nucleotide binding | Note=ATP |
| Hgene | >MTHFS | chr15:80181435 | chr15:89414613 | ENST00000258874 | - | 2 | 3 | 148_152 | 126 | 204 | Region | Note=Substrate binding |
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FusionGeneSequence for MTHFS_ACAN |
| 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. |
| >In-frame_MTHFS_ENST00000258874_chr15_80181435_-_ACAN_ENST00000439576_chr15_89414613_+_342aa MAAAAVSSAKRSLRGELKQRLRAMSAEERLRQSRVLSQKVIAHSEYQKSKRISIFLSMQDEIETEEIIKDIFQRGKICFIPRYRFQSNHM DMVRIESPEEISLLPKTSWNIPQPGEGDVREEALSTDQEVCEEGWNKYQGHCYRHFPDRETWVDAERRCREQQSHLSSIVTPEEQEFVNN NAQDYQWIGLNDRTIEGDFRWSDGHPMQFENWRPNQPDNFFAAGEDCVVMIWHEKGEWNDVPCNYHLPFTCKKGTVACGEPPVVEHARTF |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_MTHFS_ENST00000258874_chr15_80181435_-_ACAN_ENST00000439576_chr15_89414613_+_1026nt ATGGCGGCGGCAGCGGTGAGCAGCGCCAAGCGGAGCCTGCGGGGAGAGCTGAAGCAGCGTCTGCGGGCGATGAGTGCCGAGGAGCGGCTA CGCCAGTCCCGCGTACTGAGCCAGAAGGTGATTGCCCACAGTGAGTATCAAAAGTCCAAAAGAATTTCCATCTTTCTGAGCATGCAAGAT GAAATTGAGACAGAAGAGATCATCAAGGACATTTTCCAACGAGGCAAAATCTGCTTCATCCCTCGGTACCGGTTCCAGAGCAATCACATG GATATGGTGAGAATAGAATCACCAGAGGAAATTTCTTTACTTCCCAAAACATCCTGGAATATCCCTCAGCCTGGTGAGGGTGATGTTCGG GAGGAGGCCTTGTCCACAGACCAGGAGGTATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAG ACCTGGGTGGATGCTGAGCGCCGGTGTCGGGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAAC AATGCCCAAGACTACCAGTGGATCGGCCTGAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGCAATTTGAG AACTGGCGCCCCAACCAGCCTGACAACTTTTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGAT GTTCCCTGCAATTACCACCTCCCCTTCACGTGTAAAAAGGGCACAGTGGCCTGCGGAGAGCCCCCTGTGGTGGAGCATGCCAGGACCTTC GGGCAGAAGAAGGACCGGTATGAGATCAATTCCCTGGTGCGGTACCAGTGCACAGAGGGGTTTGTCCAGCGCCACATGCCCACCATCCGG TGCCAGCCCAGCGGGCACTGGGAGGAGCCTCAGATCACCTGCACAGACCCCACCACCTACAAACGCAGACTACAGAAGCGGAGCTCACGG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_MTHFS_ENST00000258874_chr15_80181435_-_ACAN_ENST00000439576_chr15_89414613_+_1960nt AGACCGAACCCGAGGGCGCCCAGGGCGCCGAGGGCGGGACTGGACTCGGCTTGGGCGTGAGATGGCGGCGGCAGCGGTGAGCAGCGCCAA GCGGAGCCTGCGGGGAGAGCTGAAGCAGCGTCTGCGGGCGATGAGTGCCGAGGAGCGGCTACGCCAGTCCCGCGTACTGAGCCAGAAGGT GATTGCCCACAGTGAGTATCAAAAGTCCAAAAGAATTTCCATCTTTCTGAGCATGCAAGATGAAATTGAGACAGAAGAGATCATCAAGGA CATTTTCCAACGAGGCAAAATCTGCTTCATCCCTCGGTACCGGTTCCAGAGCAATCACATGGATATGGTGAGAATAGAATCACCAGAGGA AATTTCTTTACTTCCCAAAACATCCTGGAATATCCCTCAGCCTGGTGAGGGTGATGTTCGGGAGGAGGCCTTGTCCACAGACCAGGAGGT ATGTGAGGAGGGCTGGAACAAGTACCAGGGCCACTGTTACCGCCACTTCCCGGACCGCGAGACCTGGGTGGATGCTGAGCGCCGGTGTCG GGAGCAGCAGTCACACCTGAGCAGCATCGTCACCCCCGAGGAGCAGGAGTTTGTCAACAACAATGCCCAAGACTACCAGTGGATCGGCCT GAACGACAGGACCATCGAAGGGGACTTCCGCTGGTCAGATGGACACCCCATGCAATTTGAGAACTGGCGCCCCAACCAGCCTGACAACTT TTTTGCCGCTGGAGAGGACTGTGTGGTGATGATCTGGCACGAGAAGGGCGAGTGGAATGATGTTCCCTGCAATTACCACCTCCCCTTCAC GTGTAAAAAGGGCACAGTGGCCTGCGGAGAGCCCCCTGTGGTGGAGCATGCCAGGACCTTCGGGCAGAAGAAGGACCGGTATGAGATCAA TTCCCTGGTGCGGTACCAGTGCACAGAGGGGTTTGTCCAGCGCCACATGCCCACCATCCGGTGCCAGCCCAGCGGGCACTGGGAGGAGCC TCAGATCACCTGCACAGACCCCACCACCTACAAACGCAGACTACAGAAGCGGAGCTCACGGCACCCTCGGAGGAGCCGCCCCAGCACAGC CCACTGAGAAGAGCTTCCAGGACGCACCCAGGACGCTGAGCCCAGGAGCCTGCCAGGCTGACGTGCATCCCACCCAGACGGTGTCCTCTT CTTGTCGCTTTTTGTCATATAAGGAATCCCATTAAAGAAGGAAAAAAATAAATCCCACATTTGTGTATGCACCCACTCACCCCTCCAAAT CAGCAAAACCGCATCTAATTTGTCCGCCGAATGCCAAAGCAAAGCAAACTTATTATAACCCTTGGACTGAGTTTAGAGACATTTCTTCAA TTTCCCATCGTGCCTTTCCAGGGACCAGTGCAGGGACAGGGGGAGAAGGGGAGGGGTTAAGTTAAATAAAGAAGATTATTTTTGTTTCCT GACTTTATCCAAGAGCAGTGCAATCGTTGGTTATTTCACCTCCAGGGAGAGCTAGGGAGGAGGGAGGAGGGCTCCAAAGGAGCTGGAAGG AGCAGAGGCCTGAGAGCAGGAAGAACTCGGAACCGCAGCTGAATGTATTGGATGAGAAGGAGCCAGGAGGGCTACACCATCTGTATGAGG GAAAAGCCTTGGGGGAGAGGGGTGGGTTCCTGCCTCCTGCCGAGGGTAAGCCGGCAGGAGAGAGCCATCAGAGGGACCTCCGCTGCCTGG GAGTTGGGTTCCCTCCAAGGGTCCCTCTTTCAGTGTCCTCTCTCTCACCTGGGTCTGCCACCCTAACAGGTGGCAACTCGGCAGGGCTGC TGGGGGCACTTCCTGCCCAGTGGGGGGTGCCGCCCAACCTTCTCCCCTCCCCACCCCCGCCCCCGGGACCGTGCAGGCACCAGGGTTCCG |
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FusionGenePPI for MTHFS_ACAN |
| 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 |
| MTHFS | TSC22D4, NDUFS3, PLCL2 | ACAN | LUM, TNFAIP6, TNR, FBLN2 |
| - 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 MTHFS_ACAN |
| 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 |
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RelatedDiseases for MTHFS_ACAN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MTHFS | C0008924 | Cleft Lip | 1 | CTD_human |
| Hgene | MTHFS | C0008925 | Cleft Palate | 1 | CTD_human |
| Tgene | ACAN | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Tgene | ACAN | C0032273 | Pneumoconiosis | 1 | CTD_human |
| Tgene | ACAN | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
| Tgene | ACAN | C2748544 | Spondyloepimetaphyseal Dysplasia, Aggrecan Type | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | ACAN | C3665488 | Familial Osteochondritis Dissecans | 1 | CTD_human;ORPHANET;UNIPROT |
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