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Fusion gene ID: 23057 |
FusionGeneSummary for MYLIP_GMPR |
Fusion gene summary |
Fusion gene information | Fusion gene name: MYLIP_GMPR | Fusion gene ID: 23057 | Hgene | Tgene | Gene symbol | MYLIP | GMPR | Gene ID | 29116 | 2766 |
Gene name | myosin regulatory light chain interacting protein | guanosine monophosphate reductase | |
Synonyms | IDOL|MIR | GMPR 1|GMPR1 | |
Cytomap | 6p22.3 | 6p22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | E3 ubiquitin-protein ligase MYLIPE3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptorRING-type E3 ubiquitin transferase MYLIPband 4.1 superfamily member BZF1cellular modulator of immune recognition (c-MIR)inducible degrader | GMP reductase 1guanine monophosphate reductaseguanosine 5'-monophosphate oxidoreductase 1guanosine monophosphate reductase 1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q8WY64 | P36959 | |
Ensembl transtripts involved in fusion gene | ENST00000356840, ENST00000349606, | ENST00000259727, ENST00000544145, | |
Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 4 X 4 X 4=64 |
# samples | 4 | 4 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MYLIP [Title/Abstract] AND GMPR [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 | MYLIP | GO:0016567 | protein ubiquitination | 14550572 |
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 | LD | CESC | TCGA-JW-A69B-01A | MYLIP | chr6 | 16144095 | + | GMPR | chr6 | 16279016 | + |
* 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 |
Frame-shift | ENST00000356840 | ENST00000259727 | MYLIP | chr6 | 16144095 | + | GMPR | chr6 | 16279016 | + |
5CDS-intron | ENST00000356840 | ENST00000544145 | MYLIP | chr6 | 16144095 | + | GMPR | chr6 | 16279016 | + |
Frame-shift | ENST00000349606 | ENST00000259727 | MYLIP | chr6 | 16144095 | + | GMPR | chr6 | 16279016 | + |
5CDS-intron | ENST00000349606 | ENST00000544145 | MYLIP | chr6 | 16144095 | + | GMPR | chr6 | 16279016 | + |
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FusionProtFeatures for MYLIP_GMPR |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MYLIP | GMPR |
E3 ubiquitin-protein ligase that mediates ubiquitinationand subsequent proteasomal degradation of myosin regulatory lightchain (MRLC), LDLR, VLDLR and LRP8. Activity depends on E2 enzymesof the UBE2D family. Proteasomal degradation of MRLC leads toinhibit neurite outgrowth in presence of NGF by counteracting thestabilization of MRLC by saposin-like protein (CNPY2/MSAP) andreducing CNPY2-stimulated neurite outgrowth. Acts as a sterol-dependent inhibitor of cellular cholesterol uptake by mediatingubiquitination and subsequent degradation of LDLR.{ECO:0000269|PubMed:10593918, ECO:0000269|PubMed:12826659,ECO:0000269|PubMed:14550572, ECO:0000269|PubMed:19520913,ECO:0000269|PubMed:20427281, ECO:0000269|PubMed:22109552}. | Catalyzes the irreversible NADPH-dependent deaminationof GMP to IMP. It functions in the conversion of nucleobase,nucleoside and nucleotide derivatives of G to A nucleotides, andin maintaining the intracellular balance of A and G nucleotides.{ECO:0000255|HAMAP-Rule:MF_03195}. |
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 MYLIP_GMPR |
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 MYLIP_GMPR |
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 |
MYLIP | CNPY2, MYLIP, LDLR, VLDLR, UBE2D1, LRP8, MYL12B, UBE2D2, UBE2D3, UBE2D4, UBE2N, KDM1A, TSC22D4, RASSF5, MIPOL1, KRAS, CRK, DAPP1, SRPK2, LNX2, USP2, CTR9, WDFY1, MYCBP2, PAF1, UBA6 | GMPR | GMPR, GMPR2 |
- 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 MYLIP_GMPR |
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 MYLIP_GMPR |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MYLIP | C0014175 | Endometriosis | 1 | CTD_human |
Tgene | GMPR | C3495559 | Juvenile arthritis | 1 | CTD_human |