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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: 19322

FusionGeneSummary for L3MBTL2_PEG10

check button Fusion gene summary
Fusion gene informationFusion gene name: L3MBTL2_PEG10
Fusion gene ID: 19322
HgeneTgene
Gene symbol

L3MBTL2

PEG10

Gene ID

83746

23089

Gene nameL3MBTL2, polycomb repressive complex 1 subunitpaternally expressed 10
SynonymsH-l(3)mbt-l|L3MBTEDR|HB-1|MEF3L|Mar2|Mart2|RGAG3|RTL2|SIRH1
Cytomap

22q13.2

7q21.3

Type of geneprotein-codingprotein-coding
Descriptionlethal(3)malignant brain tumor-like protein 2H-l(3)mbt-like protein 2L(3)mbt-like protein 2l(3)mbt-like 2retrotransposon-derived protein PEG10MEF3 like 1Sushi-Ichi retrotransposon homolog 1embryonal carcinoma differentiation regulatedmammalian retrotransposon-derived 2mammalian retrotransposon-derived protein 2myelin expression factor 3-like protein 1
Modification date2018052220180519
UniProtAcc

Q969R5

Q86TG7

Ensembl transtripts involved in fusion geneENST00000216237, ENST00000489136, 
ENST00000482108, ENST00000488574, 
ENST00000465184, 
Fusion gene scores* DoF score4 X 4 X 4=647 X 10 X 1=70
# samples 412
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/70*10)=0.777607578663552
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: L3MBTL2 [Title/Abstract] AND PEG10 [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
TgenePEG10

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

15611116


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
ChiTaRS3.1AV723591L3MBTL2chr22

41626132

-PEG10chr7

94298765

+
* 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
intron-3UTRENST00000216237ENST00000482108L3MBTL2chr22

41626132

-PEG10chr7

94298765

+
intron-intronENST00000216237ENST00000488574L3MBTL2chr22

41626132

-PEG10chr7

94298765

+
intron-intronENST00000216237ENST00000465184L3MBTL2chr22

41626132

-PEG10chr7

94298765

+
intron-3UTRENST00000489136ENST00000482108L3MBTL2chr22

41626132

-PEG10chr7

94298765

+
intron-intronENST00000489136ENST00000488574L3MBTL2chr22

41626132

-PEG10chr7

94298765

+
intron-intronENST00000489136ENST00000465184L3MBTL2chr22

41626132

-PEG10chr7

94298765

+

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FusionProtFeatures for L3MBTL2_PEG10


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
L3MBTL2

Q969R5

PEG10

Q86TG7

Putative Polycomb group (PcG) protein. PcG proteinsmaintain the transcriptionally repressive state of genes, probablyvia a modification of chromatin, rendering it heritably changed inits expressibility. Its association with a chromatin-remodelingcomplex suggests that it may contribute to prevent expression ofgenes that trigger the cell into mitosis. Binds to monomethylatedand dimethylated 'Lys-20' on histone H4. Binds histone H3 peptidesthat are monomethylated or dimethylated on 'Lys-4', 'Lys-9' or'Lys-27'. {ECO:0000269|PubMed:19233876}. Prevents apoptosis in hepatocellular carcinoma (HCC)cells through interaction with SIAH1, a mediator of apoptosis. Mayalso have a role in cell growth promotion and hepatoma formation.Inhibits the TGF-beta signaling by interacting with the TGF-betareceptor ALK1. When overexpressed, induces the formation ofcellular extension, such as filipodia in association with ALK1.Involved at the immediate early stage of adipocyte differentiation(By similarity). May bind to the 5'-GCCTGTCTTT-3' DNA sequence ofthe MB1 domain in the myelin basic protein (MBP) promoter (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:12810624,ECO:0000269|PubMed:15611116, ECO:0000269|PubMed:16423995,ECO:0000269|PubMed:17369855}.

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 L3MBTL2_PEG10


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 L3MBTL2_PEG10


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


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 L3MBTL2_PEG10


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 L3MBTL2_PEG10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneL3MBTL2C0025149Medulloblastoma1CTD_human