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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: 47

FusionGeneSummary for AARSD1_RGS9

check button Fusion gene summary
Fusion gene informationFusion gene name: AARSD1_RGS9
Fusion gene ID: 47
HgeneTgene
Gene symbol

AARSD1

RGS9

Gene ID

80755

8787

Gene namealanyl-tRNA synthetase domain containing 1regulator of G protein signaling 9
Synonyms-PERRS|RGS9L
Cytomap

17q21.31

17q24.1

Type of geneprotein-codingprotein-coding
Descriptionalanyl-tRNA editing protein Aarsd1alanyl-tRNA synthetase domain-containing protein 1regulator of G-protein signaling 9regulator of G-protein signalling 9
Modification date2018052320180522
UniProtAcc

Q9BTE6

O75916

Ensembl transtripts involved in fusion geneENST00000427569, ENST00000416949, 
ENST00000443584, ENST00000449996, 
ENST00000262406, ENST00000577186, 
Fusion gene scores* DoF score5 X 5 X 5=12510 X 8 X 4=320
# samples 59
** MAII scorelog2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AARSD1 [Title/Abstract] AND RGS9 [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
TCGARVCESCTCGA-4J-AA1J-01AAARSD1chr17

41131187

-RGS9chr17

63206606

+
* 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-3CDSENST00000427569ENST00000443584AARSD1chr17

41131187

-RGS9chr17

63206606

+
intron-3CDSENST00000427569ENST00000449996AARSD1chr17

41131187

-RGS9chr17

63206606

+
intron-3CDSENST00000427569ENST00000262406AARSD1chr17

41131187

-RGS9chr17

63206606

+
intron-intronENST00000427569ENST00000577186AARSD1chr17

41131187

-RGS9chr17

63206606

+
intron-3CDSENST00000416949ENST00000443584AARSD1chr17

41131187

-RGS9chr17

63206606

+
intron-3CDSENST00000416949ENST00000449996AARSD1chr17

41131187

-RGS9chr17

63206606

+
intron-3CDSENST00000416949ENST00000262406AARSD1chr17

41131187

-RGS9chr17

63206606

+
intron-intronENST00000416949ENST00000577186AARSD1chr17

41131187

-RGS9chr17

63206606

+

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FusionProtFeatures for AARSD1_RGS9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AARSD1

Q9BTE6

RGS9

O75916

Functions in trans to edit the amino acid moiety fromincorrectly charged tRNA(Ala). {ECO:0000250}. Inhibits signal transduction by increasing the GTPaseactivity of G protein alpha subunits thereby driving them intotheir inactive GDP-bound form. Binds to GNAT1. Involved inphototransduction; key element in the recovery phase of visualtransduction (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 AARSD1_RGS9


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 AARSD1_RGS9


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
AARSD1ARPC1A, ARPC2, ARPC5, CALR, CALU, EFTUD2, GTF2E1, HARS, LAP3, PFDN1, PFDN5, PPP1R12A, PPP2CB, PRKACA, TRMT10A, RPA1, RPA3, RPRD1B, RPUSD2, SH3GL1, SH3GLB1, SH3GLB2, THG1L, TP53RK, TTC1, UBQLN2, XPO5, FUBP1, NIF3L1, TPD52L2, IRS4, DYNLT1, HECTD1, TUBA1A, HSPB1, SERPINH1, RHOJ, JADE2, TAT, PARVG, TARS, PPP1R14B, SBDS, SEPT2, SEPT8, SRM, TBCB, RGS20, TRIM45, YKT6, MAP3K7, DDHD2, NPHP3, C12orf74, ALKBH2, TAB1, USP10, ALMS1, LUZP1, SASS6, FIGNL1, ERCC6L, SSFA2, FBXO7, RBM14-RBM4, HPS5, POC5, WNK1, HOOK1, RPL23, UBXN1, APAF1, STIL, MLF1, BORA, FAM83H, KIF1A, RAD21, ARRB2, RICTOR, RIC8B, TRAPPC4, BRCA2, PEAK1, NCAPG, TRIP13RGS9RGS7BP, GNB5, RGS9BP, GNAO1, ADRB2, PRPF40B, RBM25


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 AARSD1_RGS9


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 AARSD1_RGS9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRGS9C0013386Dyskinesia, Drug-Induced2CTD_human
TgeneRGS9C0033941Psychoses, Substance-Induced1CTD_human
TgeneRGS9C0036341Schizophrenia1CTD_human
TgeneRGS9C1842073Prolonged Electroretinal Response Suppression1CTD_human;HPO;ORPHANET;UNIPROT