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Fusion gene ID: 42371 |
FusionGeneSummary for YTHDC1_EMG1 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for YTHDC1_EMG1 |
![]() (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 |
![]() (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 |