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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 23057

FusionGeneSummary for MYLIP_GMPR

check button Fusion gene summary
Fusion gene informationFusion gene name: MYLIP_GMPR
Fusion gene ID: 23057
HgeneTgene
Gene symbol

MYLIP

GMPR

Gene ID

29116

2766

Gene namemyosin regulatory light chain interacting proteinguanosine monophosphate reductase
SynonymsIDOL|MIRGMPR 1|GMPR1
Cytomap

6p22.3

6p22.3

Type of geneprotein-codingprotein-coding
DescriptionE3 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 date2018052320180523
UniProtAcc

Q8WY64

P36959

Ensembl transtripts involved in fusion geneENST00000356840, ENST00000349606, 
ENST00000259727, ENST00000544145, 
Fusion gene scores* DoF score4 X 3 X 4=484 X 4 X 4=64
# samples 44
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMYLIP

GO:0016567

protein ubiquitination

14550572


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDCESCTCGA-JW-A69B-01AMYLIPchr6

16144095

+GMPRchr6

16279016

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000356840ENST00000259727MYLIPchr6

16144095

+GMPRchr6

16279016

+
5CDS-intronENST00000356840ENST00000544145MYLIPchr6

16144095

+GMPRchr6

16279016

+
Frame-shiftENST00000349606ENST00000259727MYLIPchr6

16144095

+GMPRchr6

16279016

+
5CDS-intronENST00000349606ENST00000544145MYLIPchr6

16144095

+GMPRchr6

16279016

+

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FusionProtFeatures for MYLIP_GMPR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYLIP

Q8WY64

GMPR

P36959

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MYLIP_GMPR


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
MYLIPCNPY2, MYLIP, LDLR, VLDLR, UBE2D1, LRP8, MYL12B, UBE2D2, UBE2D3, UBE2D4, UBE2N, KDM1A, TSC22D4, RASSF5, MIPOL1, KRAS, CRK, DAPP1, SRPK2, LNX2, USP2, CTR9, WDFY1, MYCBP2, PAF1, UBA6GMPRGMPR, GMPR2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MYLIP_GMPR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MYLIP_GMPR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYLIPC0014175Endometriosis1CTD_human
TgeneGMPRC3495559Juvenile arthritis1CTD_human