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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: 28538

FusionGeneSummary for PPP6R3_FADD

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP6R3_FADD
Fusion gene ID: 28538
HgeneTgene
Gene symbol

PPP6R3

FADD

Gene ID

55291

8772

Gene nameprotein phosphatase 6 regulatory subunit 3Fas associated via death domain
SynonymsC11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3GIG3|MORT1
Cytomap

11q13.2

11q13.3

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein phosphatase 6 regulatory subunit 3SAPS domain family, member 3sporulation-induced transcript 4-associated protein SAPLFAS-associated death domain proteinFas (TNFRSF6)-associated via death domainFas-associating death domain-containing proteinFas-associating protein with death domaingrowth-inhibiting gene 3 proteinmediator of receptor-induced toxicity
Modification date2018052020180522
UniProtAcc

Q5H9R7

Q13158

Ensembl transtripts involved in fusion geneENST00000393799, ENST00000530427, 
ENST00000393800, ENST00000534534, 
ENST00000524845, ENST00000265637, 
ENST00000524904, ENST00000393801, 
ENST00000265636, ENST00000529710, 
ENST00000527403, 
ENST00000301838, 
Fusion gene scores* DoF score18 X 11 X 10=19805 X 1 X 5=25
# samples 286
** MAII scorelog2(28/1980*10)=-2.82200169802201
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/25*10)=1.26303440583379
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PPP6R3 [Title/Abstract] AND FADD [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

TgeneFADD

GO:0032757

positive regulation of interleukin-8 production

16127453

TgeneFADD

GO:0032760

positive regulation of tumor necrosis factor production

16127453

TgeneFADD

GO:0036462

TRAIL-activated apoptotic signaling pathway

21785459

TgeneFADD

GO:0043065

positive regulation of apoptotic process

11821383

TgeneFADD

GO:0045862

positive regulation of proteolysis

18387192

TgeneFADD

GO:0045944

positive regulation of transcription by RNA polymerase II

16127453

TgeneFADD

GO:0097190

apoptotic signaling pathway

11101870

TgeneFADD

GO:0097191

extrinsic apoptotic signaling pathway

21785459

TgeneFADD

GO:0097202

activation of cysteine-type endopeptidase activity

18387192


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-E2-A15A-01APPP6R3chr11

68228295

+FADDchr11

70052239

+
* 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-3CDSENST00000393799ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
3UTR-3CDSENST00000530427ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
5UTR-3CDSENST00000393800ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
5UTR-3CDSENST00000534534ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
5UTR-3CDSENST00000524845ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
5UTR-3CDSENST00000265637ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
5UTR-3CDSENST00000524904ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
5UTR-3CDSENST00000393801ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
5UTR-3CDSENST00000265636ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
5UTR-3CDSENST00000529710ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+
intron-3CDSENST00000527403ENST00000301838PPP6R3chr11

68228295

+FADDchr11

70052239

+

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FusionProtFeatures for PPP6R3_FADD


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

Q5H9R7

FADD

Q13158

Apoptotic adaptor molecule that recruits caspase-8 orcaspase-10 to the activated Fas (CD95) or TNFR-1 receptors. Theresulting aggregate called the death-inducing signaling complex(DISC) performs caspase-8 proteolytic activation. Active caspase-8initiates the subsequent cascade of caspases mediating apoptosis.Involved in interferon-mediated antiviral immune response, playinga role in the positive regulation of interferon signaling.{ECO:0000269|PubMed:16762833, ECO:0000269|PubMed:19118384,ECO:0000269|PubMed:20935634, ECO:0000269|PubMed:21109225}.

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_FADD


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_FADD


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, TESFADDABCA1, TNFRSF10B, RHOA, ARHGDIA, BID, EZR, FAS, MAPK8, MSN, CASP10, CASP8, FASLG, TNFRSF1A, MBD4, NACA, MOB4, CFLAR, RIPK1, RYBP, TRADD, DAPK1, DAP3, TNFRSF10A, PEA15, HIPK3, PIDD1, PRKCZ, DEDD, NOL3, CASP8AP2, RALGDS, TRIM21, IRF7, MAVS, KHDRBS1, TAB1, TNFAIP3, TNFSF10, DAXX, CLIP3, RIPK3, FAF1, EDAR, LRRK2, IKBKG, PARK7, TRAF2, CUL3, MKRN1, MYD88, SPOP, TNF, ATG5, ATG12, NEFH, IL37, PRKRIR, APOA1BP, EHD1, RAP1A, TLR3, NLRC4, FADD, TPPP, PIN1


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_FADD


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_FADD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFADDC0018784Sensorineural Hearing Loss (disorder)1CTD_human
TgeneFADDC0027627Neoplasm Metastasis1CTD_human
TgeneFADDC0038368Stomatognathic Diseases1CTD_human
TgeneFADDC0376634Craniofacial Abnormalities1CTD_human
TgeneFADDC3151062INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS1ORPHANET;UNIPROT