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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: 27557

FusionGeneSummary for PLEC_LARP7

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEC_LARP7
Fusion gene ID: 27557
HgeneTgene
Gene symbol

PLEC

LARP7

Gene ID

5339

51574

Gene nameplectinLa ribonucleoprotein domain family member 7
SynonymsEBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|PCN|PLEC1|PLEC1b|PLTNALAZS|HDCMA18P|PIP7S
Cytomap

8q24.3

4q25

Type of geneprotein-codingprotein-coding
Descriptionplectinhemidesmosomal protein 1plectin 1, intermediate filament binding protein 500kDala-related protein 7P-TEFb-interaction protein for 7SK stability
Modification date2018052320180522
UniProtAcc

Q15149

Q4G0J3

Ensembl transtripts involved in fusion geneENST00000345136, ENST00000357649, 
ENST00000354589, ENST00000398774, 
ENST00000322810, ENST00000354958, 
ENST00000356346, ENST00000436759, 
ENST00000527096, 		ENST00000344442, 
ENST00000509061, ENST00000324052, 
ENST00000503898, 
Fusion gene scores* DoF score14 X 12 X 7=11765 X 5 X 3=75
# samples 145
** MAII scorelog2(14/1176*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLEC [Title/Abstract] AND LARP7 [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
ChiTaRS3.1BQ002100PLECchr8

144989526

+LARP7chr4

113571693

-
* 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-3CDSENST00000345136ENST00000344442PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000345136ENST00000509061PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000345136ENST00000324052PLECchr8

144989526

+LARP7chr4

113571693

-
intron-intronENST00000345136ENST00000503898PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000357649ENST00000344442PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000357649ENST00000509061PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000357649ENST00000324052PLECchr8

144989526

+LARP7chr4

113571693

-
intron-intronENST00000357649ENST00000503898PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000354589ENST00000344442PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000354589ENST00000509061PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000354589ENST00000324052PLECchr8

144989526

+LARP7chr4

113571693

-
intron-intronENST00000354589ENST00000503898PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000398774ENST00000344442PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000398774ENST00000509061PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000398774ENST00000324052PLECchr8

144989526

+LARP7chr4

113571693

-
intron-intronENST00000398774ENST00000503898PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000322810ENST00000344442PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000322810ENST00000509061PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000322810ENST00000324052PLECchr8

144989526

+LARP7chr4

113571693

-
intron-intronENST00000322810ENST00000503898PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000354958ENST00000344442PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000354958ENST00000509061PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000354958ENST00000324052PLECchr8

144989526

+LARP7chr4

113571693

-
intron-intronENST00000354958ENST00000503898PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000356346ENST00000344442PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000356346ENST00000509061PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000356346ENST00000324052PLECchr8

144989526

+LARP7chr4

113571693

-
intron-intronENST00000356346ENST00000503898PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000436759ENST00000344442PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000436759ENST00000509061PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000436759ENST00000324052PLECchr8

144989526

+LARP7chr4

113571693

-
intron-intronENST00000436759ENST00000503898PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000527096ENST00000344442PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000527096ENST00000509061PLECchr8

144989526

+LARP7chr4

113571693

-
intron-3CDSENST00000527096ENST00000324052PLECchr8

144989526

+LARP7chr4

113571693

-
intron-intronENST00000527096ENST00000503898PLECchr8

144989526

+LARP7chr4

113571693

-

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FusionProtFeatures for PLEC_LARP7


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

Q15149

LARP7

Q4G0J3

Negative transcriptional regulator of polymerase IIgenes, acting by means of the 7SK RNP system. Within the 7SK RNPcomplex, the positive transcription elongation factor b (P-TEFb)is sequestered in an inactive form, preventing RNA polymerase IIphosphorylation and subsequent transcriptional elongation.{ECO:0000269|PubMed:18249148, ECO:0000269|PubMed:18483487}.

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_LARP7


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_LARP7


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_LARP7


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_LARP7


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
TgeneLARP7C3714756Intellectual Disability1CTD_human