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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: 28546

FusionGeneSummary for PPP6R3_SPTBN2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP6R3_SPTBN2
Fusion gene ID: 28546
HgeneTgene
Gene symbol

PPP6R3

SPTBN2

Gene ID

55291

6712

Gene nameprotein phosphatase 6 regulatory subunit 3spectrin beta, non-erythrocytic 2
SynonymsC11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3GTRAP41|SCA5|SCAR14
Cytomap

11q13.2

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase 6 regulatory subunit 3SAPS domain family, member 3sporulation-induced transcript 4-associated protein SAPLspectrin beta chain, non-erythrocytic 2beta-III spectringlutamate transporter EAAT4-associated protein 41spectrin beta III sigma 2spectrin beta chain, brain 2spectrin, non-erythroid beta chain 2spinocerebellar ataxia 5 protein
Modification date2018052020180522
UniProtAcc

Q5H9R7

O15020

Ensembl transtripts involved in fusion geneENST00000393799, ENST00000530427, 
ENST00000393800, ENST00000534534, 
ENST00000524845, ENST00000265637, 
ENST00000524904, ENST00000393801, 
ENST00000265636, ENST00000529710, 
ENST00000527403, 		ENST00000533211, 
ENST00000309996, ENST00000529997, 
Fusion gene scores* DoF score18 X 11 X 10=19804 X 4 X 2=32
# samples 284
** MAII scorelog2(28/1980*10)=-2.82200169802201
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: PPP6R3 [Title/Abstract] AND SPTBN2 [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
HgenePPP6R3

GO:0043666

regulation of phosphoprotein phosphatase activity

16716191

TgeneSPTBN2

GO:0016192

vesicle-mediated transport

9826670


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
TCGALDBRCATCGA-GM-A3NW-01APPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
* 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-3CDSENST00000393799ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000393799ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000393799ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
3UTR-3CDSENST00000530427ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
3UTR-3CDSENST00000530427ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
3UTR-3CDSENST00000530427ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000393800ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000393800ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000393800ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000534534ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000534534ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000534534ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000524845ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000524845ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000524845ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000265637ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000265637ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000265637ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000524904ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000524904ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000524904ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000393801ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000393801ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000393801ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000265636ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000265636ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000265636ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000529710ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000529710ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
5UTR-3CDSENST00000529710ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
intron-3CDSENST00000527403ENST00000533211PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
intron-3CDSENST00000527403ENST00000309996PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-
intron-3CDSENST00000527403ENST00000529997PPP6R3chr11

68228295

+SPTBN2chr11

66483452

-

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FusionProtFeatures for PPP6R3_SPTBN2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP6R3

Q5H9R7

SPTBN2

O15020

Probably plays an important role in neuronal membraneskeleton.

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 PPP6R3_SPTBN2


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 PPP6R3_SPTBN2


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
PPP6R3KDM6A, TNFAIP3, USP21, USP36, USP49, PPP6C, PRKDC, HDAC1, HDAC2, ELAVL1, SIRT7, TERF2IP, TINF2, TFAP4, GRK5, PFAS, BRCA1, ECT2, NOTCH1, LATS1, GPSM1, HDAC11, USP10, ANKRD28, MOB1A, MOB1B, ACAD11, ANKRD44, ANKRD52, AP1B1, AP2A1, AP2A2, AURKA, DNAJC11, ECH1, ERLIN2, PPP6R1, PPP6R2, CDC37, ENAH, ETFA, HSP90AA1, HSP90AB1, RUVBL2, SRRT, TPM1, USP7, CSNK1E, SNAI2, RNF2, GPHA2, RPS6KB2, UNK, DIEXF, NSUN5, EIF4A3, TIPRL, NTRK1, CEP44, CEP19, XPO1, ZNRF2, ZNF746, TRMT2A, TRIM25, TESSPTBN2UNC13B, ACTR1A, ACTB, APC, SIRT7, SPTAN1, KDM5C, OBSL1, CCDC8, CORO1B, EXOC2, ILF2, MLH1, NCAPD3, CAPZA2, FLNA, MYH9, MYO1C, PPP1CB, SORT1, IQGAP1, SYNPO, ASF1A, ATAD2, SGTB, MYO19, MYO18A, CDH1, CTDSPL, TRIM25, UBE2A


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 PPP6R3_SPTBN2


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 PPP6R3_SPTBN2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSPTBN2C0752123Spinocerebellar Ataxia Type 52ORPHANET;UNIPROT
TgeneSPTBN2C0036341Schizophrenia1PSYGENET