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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: 32163

FusionGeneSummary for RPS6KC1_CD34

check button Fusion gene summary
Fusion gene informationFusion gene name: RPS6KC1_CD34
Fusion gene ID: 32163
HgeneTgene
Gene symbol

RPS6KC1

CD34

Gene ID

26750

947

Gene nameribosomal protein S6 kinase C1CD34 molecule
SynonymsRPK118|RSKL1|S6K-delta-1|S6PKh1|humS6PKh1-
Cytomap

1q32.3

1q32.2

Type of geneprotein-codingprotein-coding
Descriptionribosomal protein S6 kinase delta-152 kDa ribosomal protein S6 kinaseSPHK1-binding proteinribosomal S6 kinase-like protein with two PSK domains 118 kDa proteinribosomal protein S6 kinase, 52kDa, polypeptide 1hematopoietic progenitor cell antigen CD34CD34 antigen
Modification date2018051920180523
UniProtAcc

Q96S38

P28906

Ensembl transtripts involved in fusion geneENST00000543470, ENST00000366960, 
ENST00000366959, ENST00000543354, 
ENST00000490299, 		ENST00000485761, 
ENST00000367036, ENST00000310833, 
ENST00000356522, ENST00000537704, 
Fusion gene scores* DoF score7 X 7 X 5=2454 X 4 X 3=48
# samples 74
** MAII scorelog2(7/245*10)=-1.8073549220576
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: RPS6KC1 [Title/Abstract] AND CD34 [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
TgeneCD34

GO:0001894

tissue homeostasis

12939361

TgeneCD34

GO:0001935

endothelial cell proliferation

21835908

TgeneCD34

GO:0008217

regulation of blood pressure

17505307

TgeneCD34

GO:0030195

negative regulation of blood coagulation

17505307

TgeneCD34

GO:0032720

negative regulation of tumor necrosis factor production

17505307

TgeneCD34

GO:0032733

positive regulation of interleukin-10 production

17505307

TgeneCD34

GO:0038001

paracrine signaling

21835908

TgeneCD34

GO:0042482

positive regulation of odontogenesis

12939361

TgeneCD34

GO:0045019

negative regulation of nitric oxide biosynthetic process

17505307

TgeneCD34

GO:0045766

positive regulation of angiogenesis

12939361|21835908

TgeneCD34

GO:0071636

positive regulation of transforming growth factor beta production

17505307

TgeneCD34

GO:0071657

positive regulation of granulocyte colony-stimulating factor production

9815891

TgeneCD34

GO:0071971

extracellular exosome assembly

21835908

TgeneCD34

GO:0098609

cell-cell adhesion

15249540

TgeneCD34

GO:1900035

negative regulation of cellular response to heat

17505307

TgeneCD34

GO:1900038

negative regulation of cellular response to hypoxia

17505307

TgeneCD34

GO:1900168

positive regulation of glial cell-derived neurotrophic factor secretion

17505307

TgeneCD34

GO:1901215

negative regulation of neuron death

17505307

TgeneCD34

GO:2001214

positive regulation of vasculogenesis

12939361


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
TCGARVLUADTCGA-50-5932-01ARPS6KC1chr1

213290752

+CD34chr1

208073348

-
* 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
5UTR-intronENST00000543470ENST00000485761RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5UTR-intronENST00000543470ENST00000367036RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5UTR-intronENST00000543470ENST00000310833RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5UTR-intronENST00000543470ENST00000356522RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5UTR-5UTRENST00000543470ENST00000537704RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-intronENST00000366960ENST00000485761RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-intronENST00000366960ENST00000367036RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-intronENST00000366960ENST00000310833RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-intronENST00000366960ENST00000356522RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-5UTRENST00000366960ENST00000537704RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-intronENST00000366959ENST00000485761RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-intronENST00000366959ENST00000367036RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-intronENST00000366959ENST00000310833RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-intronENST00000366959ENST00000356522RPS6KC1chr1

213290752

+CD34chr1

208073348

-
5CDS-5UTRENST00000366959ENST00000537704RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-intronENST00000543354ENST00000485761RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-intronENST00000543354ENST00000367036RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-intronENST00000543354ENST00000310833RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-intronENST00000543354ENST00000356522RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-5UTRENST00000543354ENST00000537704RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-intronENST00000490299ENST00000485761RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-intronENST00000490299ENST00000367036RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-intronENST00000490299ENST00000310833RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-intronENST00000490299ENST00000356522RPS6KC1chr1

213290752

+CD34chr1

208073348

-
intron-5UTRENST00000490299ENST00000537704RPS6KC1chr1

213290752

+CD34chr1

208073348

-

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FusionProtFeatures for RPS6KC1_CD34


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RPS6KC1

Q96S38

CD34

P28906

May be involved in transmitting sphingosine-1 phosphate(SPP)-mediated signaling into the cell (PubMed:12077123). Plays arole in the recruitment of PRDX3 to early endosomes(PubMed:15750338). {ECO:0000269|PubMed:12077123,ECO:0000269|PubMed:15750338}. Possible adhesion molecule with a role in earlyhematopoiesis by mediating the attachment of stem cells to thebone marrow extracellular matrix or directly to stromal cells.Could act as a scaffold for the attachment of lineage specificglycans, allowing stem cells to bind to lectins expressed bystromal cells or other marrow components. Presents carbohydrateligands to selectins.

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 RPS6KC1_CD34


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 RPS6KC1_CD34


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
RPS6KC1SPHK1, HSP90AA1, PRDX3, DENND6A, IQGAP1, VPS39CD34CRKL


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 RPS6KC1_CD34


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 RPS6KC1_CD34


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCD34C0007621Neoplastic Cell Transformation1CTD_human
TgeneCD34C0033975Psychotic Disorders1PSYGENET
TgeneCD34C0041696Unipolar Depression1PSYGENET
TgeneCD34C0349204Nonorganic psychosis1PSYGENET
TgeneCD34C1269683Major Depressive Disorder1PSYGENET