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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: 28539

FusionGeneSummary for PPP6R3_GAL

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP6R3_GAL
Fusion gene ID: 28539
HgeneTgene
Gene symbol

PPP6R3

GAL

Gene ID

55291

51083

Gene nameprotein phosphatase 6 regulatory subunit 3galanin and GMAP prepropeptide
SynonymsC11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3ETL8|GAL-GMAP|GALN|GLNN|GMAP
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 SAPLgalanin peptidesgalanin prepropeptidegalanin-message-associated peptidegalanin-related peptidegalanin/GMAP prepropeptide
Modification date2018052020180523
UniProtAcc

Q5H9R7

P22466

Ensembl transtripts involved in fusion geneENST00000393799, ENST00000530427, 
ENST00000393800, ENST00000534534, 
ENST00000524845, ENST00000265637, 
ENST00000524904, ENST00000393801, 
ENST00000265636, ENST00000529710, 
ENST00000527403, 
ENST00000538401, 
ENST00000265643, 
Fusion gene scores* DoF score18 X 11 X 10=19804 X 3 X 4=48
# samples 284
** MAII scorelog2(28/1980*10)=-2.82200169802201
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPP6R3 [Title/Abstract] AND GAL [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

TgeneGAL

GO:0010737

protein kinase A signaling

17982695

TgeneGAL

GO:0019933

cAMP-mediated signaling

17982695

TgeneGAL

GO:0045944

positive regulation of transcription by RNA polymerase II

24517231

TgeneGAL

GO:0051464

positive regulation of cortisol secretion

17982695

TgeneGAL

GO:0051795

positive regulation of timing of catagen

22329353

TgeneGAL

GO:1902608

positive regulation of large conductance calcium-activated potassium channel activity

24602615

TgeneGAL

GO:1902891

negative regulation of root hair elongation

22329353


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
TCGALDUCSTCGA-N5-A59E-01APPP6R3chr11

68338572

+GALchr11

68458385

+
* 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-intronENST00000393799ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000393799ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
intron-intronENST00000530427ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
intron-intronENST00000530427ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000393800ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000393800ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000534534ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000534534ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000524845ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000524845ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000265637ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000265637ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000524904ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000524904ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000393801ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000393801ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000265636ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000265636ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000529710ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000529710ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000527403ENST00000538401PPP6R3chr11

68338572

+GALchr11

68458385

+
5CDS-intronENST00000527403ENST00000265643PPP6R3chr11

68338572

+GALchr11

68458385

+

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FusionProtFeatures for PPP6R3_GAL


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

Q5H9R7

GAL

P22466

Endocrine hormone of the central and peripheral nervoussystems that binds and activates the G protein-coupled receptorsGALR1, GALR2, and GALR3. This small neuropeptide may regulatediverse physiologic functions including contraction of smoothmuscle of the gastrointestinal and genitourinary tract, growthhormone and insulin release and adrenal secretion.{ECO:0000269|PubMed:1370155, ECO:0000269|PubMed:1722333,ECO:0000269|PubMed:25691535}.

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_GAL


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_GAL


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, TESGALELAVL1, SGTA, HLA-DPA1, CEACAM21, MGAT4C, MMP10, FCGRT


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_GAL


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_GAL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGALC0011570Mental Depression5PSYGENET
TgeneGALC0011581Depressive disorder5PSYGENET
TgeneGALC0525045Mood Disorders5PSYGENET
TgeneGALC0085762Alcohol abuse4PSYGENET
TgeneGALC0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneGALC0005586Bipolar Disorder1PSYGENET
TgeneGALC0020429Hyperalgesia1CTD_human
TgeneGALC0020538Hypertensive disease1CTD_human
TgeneGALC0021368Inflammation1CTD_human
TgeneGALC0024809Marijuana Abuse1PSYGENET
TgeneGALC0027796Neuralgia1CTD_human
TgeneGALC0039231Tachycardia1CTD_human
TgeneGALC0338715Drug-induced depressive state1PSYGENET
TgeneGALC4225318EPILEPSY, FAMILIAL TEMPORAL LOBE, 81UNIPROT