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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: 24553

FusionGeneSummary for NOL3_PLEKHA2

check button Fusion gene summary
Fusion gene informationFusion gene name: NOL3_PLEKHA2
Fusion gene ID: 24553
HgeneTgene
Gene symbol

NOL3

PLEKHA2

Gene ID

8996

59339

Gene namenucleolar protein 3pleckstrin homology domain containing A2
SynonymsARC|FCM|MYP|NOP|NOP30TAPP2
Cytomap

16q22.1

8p11.22

Type of geneprotein-codingprotein-coding
Descriptionnucleolar protein 3muscle-enriched cytoplasmic proteinnucleolar protein 3 (apoptosis repressor with CARD domain)nucleolar protein of 30 kDapleckstrin homology domain-containing family A member 2PH domain-containing family A member 2TAPP-2pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2tandem PH Domain containing protein-2tandem PH domain-conta
Modification date2018051920180523
UniProtAcc

O60936

Q9HB19

Ensembl transtripts involved in fusion geneENST00000432069, ENST00000564053, 
ENST00000568199, ENST00000268605, 
ENST00000568146, 
ENST00000521746, 
ENST00000420274, ENST00000388745, 
Fusion gene scores* DoF score4 X 5 X 1=207 X 7 X 3=147
# samples 57
** MAII scorelog2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NOL3 [Title/Abstract] AND PLEKHA2 [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
HgeneNOL3

GO:0006376

mRNA splice site selection

10196175

HgeneNOL3

GO:0014808

release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

15509781

HgeneNOL3

GO:0051259

protein complex oligomerization

10196175

HgeneNOL3

GO:0090201

negative regulation of release of cytochrome c from mitochondria

15004034

HgeneNOL3

GO:1902176

negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway

15004034

HgeneNOL3

GO:1990001

inhibition of cysteine-type endopeptidase activity involved in apoptotic process

15509781

HgeneNOL3

GO:2001237

negative regulation of extrinsic apoptotic signaling pathway

9560245


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
ChiTaRS3.1AA962119NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
* 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
3UTR-3CDSENST00000432069ENST00000521746NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
3UTR-3CDSENST00000432069ENST00000420274NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
3UTR-3UTRENST00000432069ENST00000388745NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
intron-3CDSENST00000564053ENST00000521746NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
intron-3CDSENST00000564053ENST00000420274NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
intron-3UTRENST00000564053ENST00000388745NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
intron-3CDSENST00000568199ENST00000521746NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
intron-3CDSENST00000568199ENST00000420274NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
intron-3UTRENST00000568199ENST00000388745NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
3UTR-3CDSENST00000268605ENST00000521746NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
3UTR-3CDSENST00000268605ENST00000420274NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
3UTR-3UTRENST00000268605ENST00000388745NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
3UTR-3CDSENST00000568146ENST00000521746NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
3UTR-3CDSENST00000568146ENST00000420274NOL3chr16

67209426

-PLEKHA2chr8

38808416

-
3UTR-3UTRENST00000568146ENST00000388745NOL3chr16

67209426

-PLEKHA2chr8

38808416

-

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FusionProtFeatures for NOL3_PLEKHA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NOL3

O60936

PLEKHA2

Q9HB19

Isoform 1: May be involved in RNA splicing.{ECO:0000269|PubMed:10196175}. Isoform 2: Functions as an apoptosis repressor thatblocks multiple modes of cell death. Inhibits extrinsic apoptoticpathways through two different ways. Firstly by interacting withFAS and FADD upon FAS activation blocking death-inducing signalingcomplex (DISC) assembly (By similarity). Secondly by interactingwith CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 availablefor DISC-mediated activation (By similarity). Inhibits intrinsicapoptotic pathway in response to a wide range of stresses, throughits interaction with BAX resulting in BAX inactivation, preventingmitochondrial dysfunction and release of pro-apoptotic factors(PubMed:15004034). Inhibits calcium-mediated cell death byfunctioning as a cytosolic calcium buffer, dissociating itsinteraction with CASP8 and maintaining calcium homeostasis(PubMed:15509781). Negatively regulates oxidative stress-inducedapoptosis by phosphorylation-dependent suppression of themitochondria-mediated intrinsic pathway, by blocking CASP2activation and BAX translocation (By similarity). Negativelyregulates hypoxia-induced apoptosis in part by inhibiting therelease of cytochrome c from mitochondria in a caspase-independentmanner (By similarity). Also inhibits TNF-induced necrosis bypreventing TNF-signaling pathway through TNFRSF1A interactionabrogating the recruitment of RIPK1 to complex I (By similarity).Finally through its role as apoptosis repressor, promotes vascularremodeling through inhibition of apoptosis and stimulation ofproliferation, in response to hypoxia (By similarity). Inhibitstoo myoblast differentiation through caspase inhibition (Bysimilarity). {ECO:0000250|UniProtKB:Q62881,ECO:0000250|UniProtKB:Q9D1X0, ECO:0000269|PubMed:15004034,ECO:0000269|PubMed:15509781}. Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. Mayrecruit other proteins to the plasma membrane (By similarity).{ECO:0000250}.

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 NOL3_PLEKHA2


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 NOL3_PLEKHA2


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


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 NOL3_PLEKHA2


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 NOL3_PLEKHA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNOL3C3539916MYOCLONUS, FAMILIAL CORTICAL2ORPHANET;UNIPROT
HgeneNOL3C0751651Mitochondrial Diseases1CTD_human