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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: 634

FusionGeneSummary for ACTR3_RPS6KA3

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTR3_RPS6KA3
Fusion gene ID: 634
HgeneTgene
Gene symbol

ACTR3

RPS6KA3

Gene ID

10096

6197

Gene nameARP3 actin related protein 3 homologribosomal protein S6 kinase A3
SynonymsARP3CLS|HU-3|ISPK-1|MAPKAPK1B|MRX19|RSK|RSK2|S6K-alpha3|p90-RSK2|pp90RSK2
Cytomap

2q14.1

Xp22.12

Type of geneprotein-codingprotein-coding
Descriptionactin-related protein 3actin-like protein 3ribosomal protein S6 kinase alpha-3MAP kinase-activated protein kinase 1bMAPK-activated protein kinase 1bMAPKAP kinase 1bMAPKAPK-1bRSK-2S6K-alpha-3insulin-stimulated protein kinase 1p90-RSK 3ribosomal S6 kinase 2ribosomal protein S6 kinase, 90kD
Modification date2018051920180523
UniProtAcc

P61158

P51812

Ensembl transtripts involved in fusion geneENST00000263238, ENST00000536059, 
ENST00000535589, 
ENST00000379565, 
ENST00000544447, ENST00000379548, 
ENST00000540702, ENST00000479809, 
Fusion gene scores* DoF score10 X 9 X 5=4504 X 4 X 2=32
# samples 104
** MAII scorelog2(10/450*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACTR3 [Title/Abstract] AND RPS6KA3 [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
HgeneACTR3

GO:0034314

Arp2/3 complex-mediated actin nucleation

11741539

TgeneRPS6KA3

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

18402937


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
ChiTaRS3.1CA843287ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
* 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
3UTR-3UTRENST00000263238ENST00000379565ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
3UTR-intronENST00000263238ENST00000544447ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
3UTR-intronENST00000263238ENST00000379548ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
3UTR-intronENST00000263238ENST00000540702ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
3UTR-intronENST00000263238ENST00000479809ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-3UTRENST00000536059ENST00000379565ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-intronENST00000536059ENST00000544447ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-intronENST00000536059ENST00000379548ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-intronENST00000536059ENST00000540702ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-intronENST00000536059ENST00000479809ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-3UTRENST00000535589ENST00000379565ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-intronENST00000535589ENST00000544447ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-intronENST00000535589ENST00000379548ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-intronENST00000535589ENST00000540702ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+
intron-intronENST00000535589ENST00000479809ACTR3chr2

114715521

-RPS6KA3chrX

20171470

+

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FusionProtFeatures for ACTR3_RPS6KA3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACTR3

P61158

RPS6KA3

P51812

Functions as ATP-binding component of the Arp2/3 complexwhich is involved in regulation of actin polymerization andtogether with an activating nucleation-promoting factor (NPF)mediates the formation of branched actin networks. Seems tocontact the pointed end of the daughter actin filament. Plays arole in ciliogenesis. {ECO:0000269|PubMed:20393563,ECO:0000269|PubMed:9000076}. Serine/threonine-protein kinase that acts downstream ofERK (MAPK1/ERK2 and MAPK3/ERK1) signaling and mediates mitogenicand stress-induced activation of the transcription factors CREB1,ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 andEIF4B phosphorylation, and mediates cellular proliferation,survival, and differentiation by modulating mTOR signaling andrepressing pro-apoptotic function of BAD and DAPK1. In fibroblast,is required for EGF-stimulated phosphorylation of CREB1 andhistone H3 at 'Ser-10', which results in the subsequenttranscriptional activation of several immediate-early genes. Inresponse to mitogenic stimulation (EGF and PMA), phosphorylatesand activates NR4A1/NUR77 and ETV1/ER81 transcription factors andthe cofactor CREBBP. Upon insulin-derived signal, acts indirectlyon the transcription regulation of several genes byphosphorylating GSK3B at 'Ser-9' and inhibiting its activity.Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation byfacilitating assembly of the preinitiation complex. In response toinsulin, phosphorylates EIF4B, enhancing EIF4B affinity for theEIF3 complex and stimulating cap-dependent translation. Isinvolved in the mTOR nutrient-sensing pathway by directlyphosphorylating TSC2 at 'Ser-1798', which potently inhibits TSC2ability to suppress mTOR signaling, and mediates phosphorylationof RPTOR, which regulates mTORC1 activity and may promoterapamycin-sensitive signaling independently of the PI3K/AKTpathway. Mediates cell survival by phosphorylating the pro-apoptotic proteins BAD and DAPK1 and suppressing their pro-apoptotic function. Promotes the survival of hepatic stellatecells by phosphorylating CEBPB in response to the hepatotoxincarbon tetrachloride (CCl4). Is involved in cell cycle regulationby phosphorylating the CDK inhibitor CDKN1B, which promotes CDKN1Bassociation with 14-3-3 proteins and prevents its translocation tothe nucleus and inhibition of G1 progression. In LPS-stimulateddendritic cells, is involved in TLR4-induced macropinocytosis, andin myeloma cells, acts as effector of FGFR3-mediatedtransformation signaling, after direct phosphorylation at Tyr-529by FGFR3. Negatively regulates EGF-induced MAPK1/3 phosphorylationvia phosphorylation of SOS1. Phosphorylates SOS1 at 'Ser-1134' and'Ser-1161' that create YWHAB and YWHAE binding sites and whichcontribute to the negative regulation of MAPK1/3 phosphorylation(By similarity). Phosphorylates EPHA2 at 'Ser-897', the RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630).{ECO:0000250|UniProtKB:P18654, ECO:0000269|PubMed:10436156,ECO:0000269|PubMed:16213824, ECO:0000269|PubMed:16223362,ECO:0000269|PubMed:17360704, ECO:0000269|PubMed:18722121,ECO:0000269|PubMed:26158630, ECO:0000269|PubMed:8250835,ECO:0000269|PubMed:9770464}.

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 ACTR3_RPS6KA3


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 ACTR3_RPS6KA3


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 ACTR3_RPS6KA3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRPS6KA3P51812DB00945Acetylsalicylic acidRibosomal protein S6 kinase alpha-3small moleculeapproved|vet_approved

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RelatedDiseases for ACTR3_RPS6KA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRPS6KA3C0265252Coffin-Lowry syndrome6CTD_human;ORPHANET;UNIPROT
TgeneRPS6KA3C0796225Mental Retardation, X-Linked 192UNIPROT
TgeneRPS6KA3C0005941Bone Diseases, Developmental1CTD_human
TgeneRPS6KA3C0027626Neoplasm Invasiveness1CTD_human
TgeneRPS6KA3C0027627Neoplasm Metastasis1CTD_human
TgeneRPS6KA3C0033922Psychomotor Disorders1CTD_human
TgeneRPS6KA3C2239176Liver carcinoma1CTD_human