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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: 27530

FusionGeneSummary for PLD1_RPS19

check button Fusion gene summary
Fusion gene informationFusion gene name: PLD1_RPS19
Fusion gene ID: 27530
HgeneTgene
Gene symbol

PLD1

RPS19

Gene ID

5589

6223

Gene nameprotein kinase C substrate 80K-Hribosomal protein S19
SynonymsAGE-R2|G19P1|GIIB|PCLD|PCLD1|PKCSH|PLD1|VASAP-60DBA|DBA1|S19|eS19
Cytomap

19p13.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionglucosidase 2 subunit betaAGE-binding receptor 2advanced glycation end-product receptor 2glucosidase II subunit betahepatocystinprotein kinase C substrate 60.1 kDa protein heavy chainprotein kinase C substrate, 80 Kda protein40S ribosomal protein S19small ribosomal subunit protein eS19
Modification date2018052220180523
UniProtAcc

Q13393

P39019

Ensembl transtripts involved in fusion geneENST00000356327, ENST00000351298, 
ENST00000342215, ENST00000340989, 
ENST00000497307, 
ENST00000598742, 
ENST00000221975, ENST00000593863, 
Fusion gene scores* DoF score5 X 4 X 4=806 X 4 X 4=96
# samples 56
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLD1 [Title/Abstract] AND RPS19 [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
TgeneRPS19

GO:0002548

monocyte chemotaxis

11226885

TgeneRPS19

GO:0031640

killing of cells of other organism

15019208

TgeneRPS19

GO:0050829

defense response to Gram-negative bacterium

15019208

TgeneRPS19

GO:0051262

protein tetramerization

11226885

TgeneRPS19

GO:0060265

positive regulation of respiratory burst involved in inflammatory response

15750715

TgeneRPS19

GO:0060266

negative regulation of respiratory burst involved in inflammatory response

15750715

TgeneRPS19

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

15019208


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
ChiTaRS3.1BQ351523PLD1chr3

171510388

+RPS19chr19

42373208

-
* 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-3CDSENST00000356327ENST00000598742PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000356327ENST00000221975PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000356327ENST00000593863PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000351298ENST00000598742PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000351298ENST00000221975PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000351298ENST00000593863PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000342215ENST00000598742PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000342215ENST00000221975PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000342215ENST00000593863PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000340989ENST00000598742PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000340989ENST00000221975PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000340989ENST00000593863PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000497307ENST00000598742PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000497307ENST00000221975PLD1chr3

171510388

+RPS19chr19

42373208

-
intron-3CDSENST00000497307ENST00000593863PLD1chr3

171510388

+RPS19chr19

42373208

-

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FusionProtFeatures for PLD1_RPS19


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLD1

Q13393

RPS19

P39019

Implicated as a critical step in numerous cellularpathways, including signal transduction, membrane trafficking, andthe regulation of mitosis. May be involved in the regulation ofperinuclear intravesicular membrane traffic (By similarity).{ECO:0000250}. Required for pre-rRNA processing and maturation of 40Sribosomal subunits. {ECO:0000269|PubMed:16990592}.

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 PLD1_RPS19


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 PLD1_RPS19


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 PLD1_RPS19


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePLD1Q13393DB00122CholinePhospholipase D1small moleculeapproved|nutraceutical
TgeneRPS19P39019DB11638Artenimol40S ribosomal protein S19small moleculeapproved|investigational

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RelatedDiseases for PLD1_RPS19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLD1C0018800Cardiomegaly1CTD_human
HgenePLD1C0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneRPS19C2676137Diamond-Blackfan Anemia 17UNIPROT
TgeneRPS19C0033578Prostatic Neoplasms1CTD_human
TgeneRPS19C0038356Stomach Neoplasms1CTD_human