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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: 31111

FusionGeneSummary for RGS17_SYNE1

check button Fusion gene summary
Fusion gene informationFusion gene name: RGS17_SYNE1
Fusion gene ID: 31111
HgeneTgene
Gene symbol

RGS17

SYNE1

Gene ID

26575

23345

Gene nameregulator of G protein signaling 17spectrin repeat containing nuclear envelope protein 1
SynonymsRGS-17|RGSZ2|hRGS178B|ARCA1|C6orf98|CPG2|EDMD4|KASH1|MYNE1|Nesp1|SCAR8|dJ45H2.2
Cytomap

6q25.2

6q25.2

Type of geneprotein-codingprotein-coding
Descriptionregulator of G-protein signaling 17nesprin-1CPG2 full lengthKASH domain-containing protein 1enaptinmyocyte nuclear envelope protein 1nesprin 1spectrin repeat containing, nuclear envelope 1synaptic nuclear envelope protein 1synaptic nuclei expressed gene 1
Modification date2018051920180519
UniProtAcc

Q9UGC6

Q8NF91

Ensembl transtripts involved in fusion geneENST00000367225, ENST00000206262, 
ENST00000367255, ENST00000356820, 
ENST00000423061, ENST00000448038, 
ENST00000341594, ENST00000265368, 
ENST00000367253, ENST00000367248, 
ENST00000413186, ENST00000466159, 
ENST00000539504, ENST00000347037, 
ENST00000354674, ENST00000495090, 
Fusion gene scores* DoF score4 X 3 X 3=3611 X 13 X 8=1144
# samples 413
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(13/1144*10)=-3.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RGS17 [Title/Abstract] AND SYNE1 [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
TgeneSYNE1

GO:0007030

Golgi organization

12808039

TgeneSYNE1

GO:0042692

muscle cell differentiation

11792814

TgeneSYNE1

GO:0090286

cytoskeletal anchoring at nuclear membrane

18396275

TgeneSYNE1

GO:0090292

nuclear matrix anchoring at nuclear membrane

11801724


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
TCGALDSARCTCGA-HB-A3YV-01ARGS17chr6

153452259

-SYNE1chr6

152809638

-
* 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-3CDSENST00000367225ENST00000367255RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000356820RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000423061RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000448038RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000341594RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000265368RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000367253RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000367248RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000413186RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000466159RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000539504RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000347037RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000354674RGS17chr6

153452259

-SYNE1chr6

152809638

-
intron-intronENST00000367225ENST00000495090RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-3CDSENST00000206262ENST00000367255RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000356820RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000423061RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000448038RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000341594RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000265368RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000367253RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000367248RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000413186RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000466159RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000539504RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000347037RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000354674RGS17chr6

153452259

-SYNE1chr6

152809638

-
5UTR-intronENST00000206262ENST00000495090RGS17chr6

153452259

-SYNE1chr6

152809638

-

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FusionProtFeatures for RGS17_SYNE1


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

Q9UGC6

SYNE1

Q8NF91

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}.

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_SYNE1


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_SYNE1


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, LCE3CSYNE1SYNE1, DISC1, MUSK, LMNA, EMD, APC, CDC42, TERF2, CDC5L, DTNBP1, CEP63, NDEL1, SH3BP5, TNIK, SUN1, SUN2, KIAA0368, OBSL1, EZH2, SUZ12, RNF2, BMI1, IFT57, NLN, NTRK1, IFI16, NUP107, NUP35, PPME1, TRIM29, GAN, MCM2, USP21, HEY1


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_SYNE1


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_SYNE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRGS17C0024809Marijuana Abuse1PSYGENET
HgeneRGS17C0236733Amphetamine-Related Disorders1CTD_human
TgeneSYNE1C0005586Bipolar Disorder3PSYGENET
TgeneSYNE1C0009404Colorectal Neoplasms2CTD_human
TgeneSYNE1C0154409Recurrent major depressive episodes1PSYGENET
TgeneSYNE1C0236969Substance-Related Disorders1CTD_human
TgeneSYNE1C1458155Mammary Neoplasms1CTD_human
TgeneSYNE1C2751807Emery-Dreifuss Muscular Dystrophy 41UNIPROT
TgeneSYNE1C2931822Nasopharyngeal carcinoma1CTD_human