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Fusion gene ID: 42371 |
FusionGeneSummary for YTHDC1_EMG1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: YTHDC1_EMG1 | Fusion gene ID: 42371 | Hgene | Tgene | Gene symbol | YTHDC1 | EMG1 | Gene ID | 91746 | 10436 |
| Gene name | YTH domain containing 1 | EMG1, N1-specific pseudouridine methyltransferase | |
| Synonyms | YT521|YT521-B | C2F|Grcc2f|NEP1 | |
| Cytomap | 4q13.2 | 12p13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | YTH domain-containing protein 1putative splicing factor YT521splicing factor YT521splicing factor YT521-B | ribosomal RNA small subunit methyltransferase NEP118S rRNA (pseudouridine(1248)-N1)-methyltransferase18S rRNA (pseudouridine-N1-)-methyltransferase NEP118S rRNA Psi1248 methyltransferaseEMG1 nucleolar protein homologessential for mitotic growth 1nuc | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q96MU7 | Q92979 | |
| Ensembl transtripts involved in fusion gene | ENST00000344157, ENST00000355665, ENST00000579690, ENST00000552105, ENST00000550485, | ENST00000261406, ENST00000546220, | |
| Fusion gene scores | * DoF score | 9 X 9 X 4=324 | 5 X 5 X 1=25 |
| # samples | 9 | 6 | |
| ** MAII score | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/25*10)=1.26303440583379 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: YTHDC1 [Title/Abstract] AND EMG1 [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 | YTHDC1 | GO:0006376 | mRNA splice site selection | 20167602 |
| Hgene | YTHDC1 | GO:0048024 | regulation of mRNA splicing, via spliceosome | 26876937 |
| 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 | AW467048 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| * 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-intron | ENST00000344157 | ENST00000261406 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| intron-intron | ENST00000344157 | ENST00000546220 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| intron-intron | ENST00000355665 | ENST00000261406 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| intron-intron | ENST00000355665 | ENST00000546220 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| intron-intron | ENST00000579690 | ENST00000261406 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| intron-intron | ENST00000579690 | ENST00000546220 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| intron-intron | ENST00000552105 | ENST00000261406 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| intron-intron | ENST00000552105 | ENST00000546220 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| intron-intron | ENST00000550485 | ENST00000261406 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
| intron-intron | ENST00000550485 | ENST00000546220 | YTHDC1 | chr4 | 9026 | + | EMG1 | chr12 | 7088639 | + |
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FusionProtFeatures for YTHDC1_EMG1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| YTHDC1 | EMG1 |
| Regulator of alternative splicing that specificallyrecognizes and binds N6-methyladenosine (m6A)-containing RNAs(PubMed:26318451, PubMed:26876937, PubMed:25242552,PubMed:28984244). M6A is a modification present at internal sitesof mRNAs and some non-coding RNAs and plays a role in theefficiency of mRNA splicing, processing and stability(PubMed:26318451, PubMed:25242552). Acts as a key regulator ofexon-inclusion or exon-skipping during alternative splicing viainteraction with mRNA splicing factors SRSF3 and SRSF10(PubMed:26876937). Specifically binds m6A-containing mRNAs andpromotes recruitment of SRSF3 to its mRNA-binding elementsadjacent to m6A sites, leading to exon-inclusion duringalternative splicing (PubMed:26876937). In contrast, interactionwith SRSF3 prevents interaction with SRSF10, a splicing factorthat promotes exon skipping: this prevents SRSF10 from binding toits mRNA-binding sites close to m6A-containing regions, leading toinhibit exon skipping during alternative splicing(PubMed:26876937). May also regulate alternative splice siteselection (PubMed:20167602). Also involved in nuclear export ofm6A-containing mRNAs via interaction with SRSF3: interaction withSRSF3 facilitates m6A-containing mRNA-binding to both SRSF3 andNXF1, promoting mRNA nuclear export (PubMed:28984244). Alsorecognizes and binds m6A on other RNA molecules (PubMed:27602518).Involved in random X inactivation mediated by Xist RNA: recognizesand binds m6A-containing Xist and promotes transcriptionrepression activity of Xist (PubMed:27602518). Involved in S-adenosyl-L-methionine homeostasis by regulating expression ofMAT2A transcripts, probably by binding m6A-containing MAT2A mRNAs(By similarity). {ECO:0000250|UniProtKB:E9Q5K9,ECO:0000269|PubMed:20167602, ECO:0000269|PubMed:25242552,ECO:0000269|PubMed:26318451, ECO:0000269|PubMed:26876937,ECO:0000269|PubMed:27602518, ECO:0000269|PubMed:28984244}. | S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248(Psi1248) in 18S rRNA. Involved the biosynthesis of thehypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine(m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able tomethylate uridine at this position (PubMed:20047967). Has also anessential role in 40S ribosomal subunit biogenesis independent onits methyltransferase activity, facilitating the incorporation ofribosomal protein S19 during the formation of pre-ribosomes (Bysimilarity). {ECO:0000250|UniProtKB:Q06287,ECO:0000269|PubMed:20047967}. |
| 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 YTHDC1_EMG1 |
| 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 YTHDC1_EMG1 |
| 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 YTHDC1_EMG1 |
| 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 YTHDC1_EMG1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EMG1 | C0019693 | HIV Infections | 1 | CTD_human |
| Tgene | EMG1 | C1859405 | Bowen-Conradi syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
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