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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: 31110

FusionGeneSummary for RGS17_PDLIM5

check button Fusion gene summary
Fusion gene informationFusion gene name: RGS17_PDLIM5
Fusion gene ID: 31110
HgeneTgene
Gene symbol

RGS17

PDLIM5

Gene ID

26575

10611

Gene nameregulator of G protein signaling 17PDZ and LIM domain 5
SynonymsRGS-17|RGSZ2|hRGS17ENH|ENH1|L9|LIM
Cytomap

6q25.2

4q22.3

Type of geneprotein-codingprotein-coding
Descriptionregulator of G-protein signaling 17PDZ and LIM domain protein 5enigma homologenigma-like LIM domain proteinenigma-like PDZ and LIM domains protein
Modification date2018051920180522
UniProtAcc

Q9UGC6

Q96HC4

Ensembl transtripts involved in fusion geneENST00000367225, ENST00000206262, 
ENST00000450793, ENST00000538141, 
ENST00000380180, ENST00000318007, 
ENST00000437932, ENST00000317968, 
ENST00000542407, ENST00000508216, 
ENST00000514743, ENST00000380176, 
ENST00000359265, ENST00000512274, 
ENST00000504489, 
Fusion gene scores* DoF score4 X 3 X 3=369 X 12 X 5=540
# samples 412
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RGS17 [Title/Abstract] AND PDLIM5 [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

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
TCGARVSARCTCGA-DX-A6YQ-01ARGS17chr6

153365035

-PDLIM5chr4

95583573

+
* 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
5CDS-intronENST00000367225ENST00000450793RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000538141RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000380180RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000318007RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000437932RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000317968RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000542407RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000508216RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000514743RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-3UTRENST00000367225ENST00000380176RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000359265RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000512274RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000367225ENST00000504489RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000450793RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000538141RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000380180RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000318007RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000437932RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000317968RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000542407RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000508216RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000514743RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-3UTRENST00000206262ENST00000380176RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000359265RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000512274RGS17chr6

153365035

-PDLIM5chr4

95583573

+
5CDS-intronENST00000206262ENST00000504489RGS17chr6

153365035

-PDLIM5chr4

95583573

+

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FusionProtFeatures for RGS17_PDLIM5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RGS17

Q9UGC6

PDLIM5

Q96HC4

Regulates G protein-coupled receptor signaling cascades,including signaling via muscarinic acetylcholine receptor CHRM2and dopamine receptor DRD2. Inhibits signal transduction byincreasing the GTPase activity of G protein alpha subunits,thereby driving them into their inactive GDP-bound form(PubMed:15096504). Binds selectively to GNAZ and GNAI2 subunits,accelerates their GTPase activity and regulates their signalingactivities. Negatively regulates mu-opioid receptor-mediatedactivation of the G-proteins (By similarity).{ECO:0000250|UniProtKB:Q9QZB0, ECO:0000269|PubMed:15096504}. May play an important role in the heart development byscaffolding PKC to the Z-disk region. May play a role in theregulation of cardiomyocyte expansion. Overexpression promotes thedevelopment of heart hypertrophy. Contributes to the regulation ofdendritic spine morphogenesis in neurons. May restrainpostsynaptic growth of excitatory synapses (By similarity).{ECO:0000250}.

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 RGS17_PDLIM5


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 RGS17_PDLIM5


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
RGS17OSTM1, RBBP8, RABEP1, ADRB2, AQP1, GNAI1, GNAI3, HOXA1, SMCP, RPL10A, OTX1, PTGER3, NUFIP2, DHX37, TBC1D16, LCE4A, LCE2A, LCE3CPDLIM5TRIM39, CACNA1B, PRKCB, PRKCE, GFI1B, NDUFA7, SIN3A, ELMSAN1, DSTN, FN1, CALU, EIF4A3, METTL1, NPLOC4, PDE12, ANP32A, CBS, IPO11, PKM, PLIN3, SRP14, UBA2, RAD23B, TPD52, ZYX, COIL, CCDC136, KRT40, KRTAP10-7, SUZ12, RNF2, BMI1, SIRT6, ILK, METTL6, RWDD2B, SYT11, DNAJC8, MAP2K1, MAP2K2, ARFIP2, CAMK2G, NTRK1, BTRC, MED4, SSX2IP, CEP128, CEP19, XPO1, CDH1, PDLIM7, TULP3, PHF19, NFATC2IP, DENR, TPM2, EMILIN1, ATG14, G3BP1, BRCA1, TES


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 RGS17_PDLIM5


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 RGS17_PDLIM5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRGS17C0024809Marijuana Abuse1PSYGENET
HgeneRGS17C0236733Amphetamine-Related Disorders1CTD_human
TgenePDLIM5C0005586Bipolar Disorder5PSYGENET
TgenePDLIM5C0036341Schizophrenia4PSYGENET
TgenePDLIM5C0041696Unipolar Depression4PSYGENET
TgenePDLIM5C1269683Major Depressive Disorder4PSYGENET
TgenePDLIM5C0151744Myocardial Ischemia1CTD_human
TgenePDLIM5C0221765Chronic schizophrenia1PSYGENET