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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PLEC-EHMT1 (FusionGDB2 ID:65712)

Fusion Gene Summary for PLEC-EHMT1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEC-EHMT1
Fusion gene ID: 65712
HgeneTgene
Gene symbol

PLEC

EHMT1

Gene ID

5339

79813

Gene nameplectineuchromatic histone lysine methyltransferase 1
SynonymsEBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|LGMDR17|PCN|PLEC1|PLEC1b|PLTNEHMT1-IT1|EUHMTASE1|Eu-HMTase1|FP13812|GLP|GLP1|KLEFS1|KMT1D
Cytomap

8q24.3

9q34.3

Type of geneprotein-codingprotein-coding
Descriptionplectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDahistone-lysine N-methyltransferase EHMT1EHMT1 intronic transcript 1G9a-like protein 1H3-K9-HMTase 5euchromatic histone-lysine N-methyltransferase 1histone H3-K9 methyltransferase 5histone-lysine N-methyltransferase, H3 lysine-9 specific 5lysine N-m
Modification date2020031320200313
UniProtAcc.

Q9H9B1

Ensembl transtripts involved in fusion geneENST00000345136, ENST00000357649, 
ENST00000354589, ENST00000398774, 
ENST00000322810, ENST00000354958, 
ENST00000356346, ENST00000436759, 
ENST00000527096, 		ENST00000462484, 
ENST00000334856, ENST00000460843, 
ENST00000371394, 
Fusion gene scores* DoF score26 X 19 X 12=592815 X 14 X 10=2100
# samples 2621
** MAII scorelog2(26/5928*10)=-4.51096191927738
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(21/2100*10)=-3.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLEC [Title/Abstract] AND EHMT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPLEC(145049344)-EHMT1(140611077), # samples:1
Anticipated loss of major functional domain due to fusion event.PLEC-EHMT1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PLEC-EHMT1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PLEC-EHMT1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
* 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
HgenePLEC

GO:0031581

hemidesmosome assembly

12482924

TgeneEHMT1

GO:0006325

chromatin organization

12004135

TgeneEHMT1

GO:0016571

histone methylation

12004135

TgeneEHMT1

GO:0018027

peptidyl-lysine dimethylation

20118233


check buttonFusion gene breakpoints across PLEC (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across EHMT1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-S3-AA17PLECchr8

145049344

-EHMT1chr9

140611077

+


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Fusion Gene ORF analysis for PLEC-EHMT1

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-3CDSENST00000345136ENST00000462484PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000345136ENST00000334856PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000345136ENST00000460843PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3UTRENST00000345136ENST00000371394PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3CDSENST00000357649ENST00000462484PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000357649ENST00000334856PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000357649ENST00000460843PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3UTRENST00000357649ENST00000371394PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3CDSENST00000354589ENST00000462484PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000354589ENST00000334856PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000354589ENST00000460843PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3UTRENST00000354589ENST00000371394PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3CDSENST00000398774ENST00000462484PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000398774ENST00000334856PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000398774ENST00000460843PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3UTRENST00000398774ENST00000371394PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3CDSENST00000322810ENST00000462484PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000322810ENST00000334856PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000322810ENST00000460843PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3UTRENST00000322810ENST00000371394PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3CDSENST00000354958ENST00000462484PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000354958ENST00000334856PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000354958ENST00000460843PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3UTRENST00000354958ENST00000371394PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3CDSENST00000356346ENST00000462484PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000356346ENST00000334856PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-5UTRENST00000356346ENST00000460843PLECchr8

145049344

-EHMT1chr9

140611077

+
intron-3UTRENST00000356346ENST00000371394PLECchr8

145049344

-EHMT1chr9

140611077

+
Frame-shiftENST00000436759ENST00000462484PLECchr8

145049344

-EHMT1chr9

140611077

+
5CDS-5UTRENST00000436759ENST00000334856PLECchr8

145049344

-EHMT1chr9

140611077

+
5CDS-5UTRENST00000436759ENST00000460843PLECchr8

145049344

-EHMT1chr9

140611077

+
5CDS-3UTRENST00000436759ENST00000371394PLECchr8

145049344

-EHMT1chr9

140611077

+
Frame-shiftENST00000527096ENST00000462484PLECchr8

145049344

-EHMT1chr9

140611077

+
5CDS-5UTRENST00000527096ENST00000334856PLECchr8

145049344

-EHMT1chr9

140611077

+
5CDS-5UTRENST00000527096ENST00000460843PLECchr8

145049344

-EHMT1chr9

140611077

+
5CDS-3UTRENST00000527096ENST00000371394PLECchr8

145049344

-EHMT1chr9

140611077

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PLEC-EHMT1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PLECchr8145049344-EHMT1chr9140611077+2.21E-050.99997795
PLECchr8145049344-EHMT1chr9140611077+2.21E-050.99997795

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PLEC-EHMT1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.EHMT1

Q9H9B1

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Represses the expression of mitochondrial function-related genes, perhaps by occupying their promoter regions, working in concert with probable chromatin reader BAZ2B (By similarity). {ECO:0000250|UniProtKB:Q5DW34, ECO:0000269|PubMed:12004135, ECO:0000269|PubMed:20118233}.

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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Fusion Gene Sequence for PLEC-EHMT1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PLEC-EHMT1


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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Related Drugs for PLEC-EHMT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PLEC-EHMT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLECC3150989MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePLECC2931072Epidermolysa bullosa simplex and limb girdle muscular dystrophy2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgenePLECC0022972Lambert-Eaton Myasthenic Syndrome1GENOMICS_ENGLAND
HgenePLECC0282160Aplasia Cutis Congenita1ORPHANET
HgenePLECC0432317Epidermolysis bullosa simplex, Ogna type1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePLECC0549225Myasthenic Syndrome1GENOMICS_ENGLAND
HgenePLECC0751882Myasthenic Syndromes, Congenital1GENOMICS_ENGLAND
HgenePLECC2677349Epidermolysis Bullosa Simplex With Pyloric Atresia1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneEHMT1C0795833KLEEFSTRA SYNDROME 111CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneEHMT1C0025149Medulloblastoma1CTD_human
TgeneEHMT1C0205833Medullomyoblastoma1CTD_human
TgeneEHMT1C0278510Childhood Medulloblastoma1CTD_human
TgeneEHMT1C0278876Adult Medulloblastoma1CTD_human
TgeneEHMT1C0751291Desmoplastic Medulloblastoma1CTD_human
TgeneEHMT1C1275668Melanotic medulloblastoma1CTD_human