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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: 33602

FusionGeneSummary for SGSM3_PPP6R2

check button Fusion gene summary
Fusion gene informationFusion gene name: SGSM3_PPP6R2
Fusion gene ID: 33602
HgeneTgene
Gene symbol

SGSM3

PPP6R2

Gene ID

27352

9701

Gene namesmall G protein signaling modulator 3protein phosphatase 6 regulatory subunit 2
SynonymsCIP85|MAP|RABGAP5|RUSC3|RUTBC3|RabGAP-5|rabGAPLPKIAA0685|PP6R2|SAP190|SAPS2
Cytomap

22q13.1

22q13.33

Type of geneprotein-codingprotein-coding
Descriptionsmall G protein signaling modulator 3RUN and SH3 containing 3RUN and TBC1 domain containing 3RUN and TBC1 domain-containing protein 3merlin binding proteinmerlin-associated proteinrab-GTPase-activating protein-like proteinsmall G protein signaling serine/threonine-protein phosphatase 6 regulatory subunit 2SAPS domain family, member 2
Modification date2018052320180519
UniProtAcc

Q96HU1

O75170

Ensembl transtripts involved in fusion geneENST00000248929, ENST00000454798, 
ENST00000359139, ENST00000395741, 
ENST00000395744, ENST00000216061, 
Fusion gene scores* DoF score5 X 2 X 4=406 X 5 X 4=120
# samples 56
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SGSM3 [Title/Abstract] AND PPP6R2 [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
HgeneSGSM3

GO:0043547

positive regulation of GTPase activity

17562788


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-DX-A8BR-01ASGSM3chr22

40766692

+PPP6R2chr22

50870694

+
* 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-3CDSENST00000248929ENST00000359139SGSM3chr22

40766692

+PPP6R2chr22

50870694

+
5UTR-3CDSENST00000248929ENST00000395741SGSM3chr22

40766692

+PPP6R2chr22

50870694

+
5UTR-3CDSENST00000248929ENST00000395744SGSM3chr22

40766692

+PPP6R2chr22

50870694

+
5UTR-3CDSENST00000248929ENST00000216061SGSM3chr22

40766692

+PPP6R2chr22

50870694

+
5UTR-3CDSENST00000454798ENST00000359139SGSM3chr22

40766692

+PPP6R2chr22

50870694

+
5UTR-3CDSENST00000454798ENST00000395741SGSM3chr22

40766692

+PPP6R2chr22

50870694

+
5UTR-3CDSENST00000454798ENST00000395744SGSM3chr22

40766692

+PPP6R2chr22

50870694

+
5UTR-3CDSENST00000454798ENST00000216061SGSM3chr22

40766692

+PPP6R2chr22

50870694

+

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FusionProtFeatures for SGSM3_PPP6R2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SGSM3

Q96HU1

PPP6R2

O75170

May play a cooperative role in NF2-mediated growthsuppression of cells. {ECO:0000269|PubMed:15541357}. Regulatory subunit of protein phosphatase 6 (PP6). Mayfunction as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation inresponse to TNF-alpha. {ECO:0000269|PubMed:16769727}.

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 SGSM3_PPP6R2


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 SGSM3_PPP6R2


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
SGSM3NF2, RPL35, PDCD6IP, NTRK1, RAB5A, RAB5B, RAB5C, RAB39B, NXF1, HLA-B, SNCA, KLF8, LEMD2, TRIM25PPP6R2TBK1, USP49, PLK1, PPP6C, PRKDC, ATXN1, APP, ANKRD28, MOB1A, MOB1B, PPP6R1, ACSL3, AIP, ALDH3A2, ANKRD44, ANKRD52, CACYBP, DPCD, ILVBL, NUDC, PFDN2, PFDN5, PFDN6, RUVBL2, SH3GLB2, TTC1, WDR92, PPP6R3, AURKA, SDCBP, PNKD, WNT10B, AP2M1, DCLRE1C, PRG2, NTRK1, XPO1, HYPK, POLRMT, MUL1, MYO5C, SLC27A2, MYO5B, TRMT2A, ACAD11, GORASP1, ZNF574, SCCPDH, ASPM, USP10, AP1B1, ZNF785, RPS6KA3, AP2A1, MYO5A, CAMK4, AP1G1, SLC26A6, SLC25A16, AP1S2, TMEM43, EXTL3, MYO1D, TRIM25


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 SGSM3_PPP6R2


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 SGSM3_PPP6R2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource