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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: 27551

FusionGeneSummary for PLEC_EHBP1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEC_EHBP1L1
Fusion gene ID: 27551
HgeneTgene
Gene symbol

PLEC

EHBP1L1

Gene ID

5339

254102

Gene nameplectinEH domain binding protein 1 like 1
SynonymsEBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|PCN|PLEC1|PLEC1b|PLTN-
Cytomap

8q24.3

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionplectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDaEH domain-binding protein 1-like protein 1tangerin
Modification date2018052320180519
UniProtAcc

Q15149

Q8N3D4

Ensembl transtripts involved in fusion geneENST00000345136, ENST00000357649, 
ENST00000354589, ENST00000398774, 
ENST00000322810, ENST00000354958, 
ENST00000356346, ENST00000436759, 
ENST00000527096, 		ENST00000309295, 
ENST00000529596, ENST00000533364, 
Fusion gene scores* DoF score14 X 12 X 7=11764 X 4 X 3=48
# samples 144
** MAII scorelog2(14/1176*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLEC [Title/Abstract] AND EHBP1L1 [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
HgenePLEC

GO:0031581

hemidesmosome assembly

12482924


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
ChiTaRS3.1CD365340PLECchr8

144989855

+EHBP1L1chr11

65350490

-
* 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-3CDSENST00000345136ENST00000309295PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000345136ENST00000529596PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000345136ENST00000533364PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-3CDSENST00000357649ENST00000309295PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000357649ENST00000529596PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000357649ENST00000533364PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-3CDSENST00000354589ENST00000309295PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000354589ENST00000529596PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000354589ENST00000533364PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-3CDSENST00000398774ENST00000309295PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000398774ENST00000529596PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000398774ENST00000533364PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-3CDSENST00000322810ENST00000309295PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000322810ENST00000529596PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000322810ENST00000533364PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-3CDSENST00000354958ENST00000309295PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000354958ENST00000529596PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000354958ENST00000533364PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-3CDSENST00000356346ENST00000309295PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000356346ENST00000529596PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000356346ENST00000533364PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-3CDSENST00000436759ENST00000309295PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000436759ENST00000529596PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000436759ENST00000533364PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-3CDSENST00000527096ENST00000309295PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000527096ENST00000529596PLECchr8

144989855

+EHBP1L1chr11

65350490

-
intron-intronENST00000527096ENST00000533364PLECchr8

144989855

+EHBP1L1chr11

65350490

-

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FusionProtFeatures for PLEC_EHBP1L1


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

Q15149

EHBP1L1

Q8N3D4

May act as Rab effector protein and play a role invesicle trafficking. {ECO:0000305|PubMed:27552051}.

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 PLEC_EHBP1L1


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 PLEC_EHBP1L1


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 PLEC_EHBP1L1


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 PLEC_EHBP1L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLECC3150989MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q2CTD_human;ORPHANET;UNIPROT
HgenePLECC0432317Epidermolysis bullosa simplex, Ogna type1CTD_human;ORPHANET;UNIPROT