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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: 17029

FusionGeneSummary for IDH3G_PKP2

check button Fusion gene summary
Fusion gene informationFusion gene name: IDH3G_PKP2
Fusion gene ID: 17029
HgeneTgene
Gene symbol

IDH3G

PKP2

Gene ID

3421

5318

Gene nameisocitrate dehydrogenase 3 (NAD(+)) gammaplakophilin 2
SynonymsH-IDHGARVD9
Cytomap

Xq28

12p11.21

Type of geneprotein-codingprotein-coding
Descriptionisocitrate dehydrogenase [NAD] subunit gamma, mitochondrialIDH-gammaNAD (H)-specific isocitrate dehydrogenase gamma subunitNAD(+)-specific ICDH subunit gammaNAD+-specific ICDHisocitrate dehydrogenase 3 (NAD+) gammaisocitrate dehydrogenase 3 gammaisplakophilin-2
Modification date2018052220180523
UniProtAcc

P51553

Q99959

Ensembl transtripts involved in fusion geneENST00000370092, ENST00000217901, 
ENST00000370093, ENST00000427365, 
ENST00000497043, 
ENST00000340811, 
ENST00000070846, ENST00000546741, 
Fusion gene scores* DoF score2 X 2 X 1=47 X 6 X 4=168
# samples 27
** MAII scorelog2(2/4*10)=2.32192809488736log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IDH3G [Title/Abstract] AND PKP2 [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

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
ChiTaRS3.1AW390706IDH3GchrX

153051428

+PKP2chr12

32949101

+
* 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
intron-3CDSENST00000370092ENST00000340811IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-3CDSENST00000370092ENST00000070846IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-intronENST00000370092ENST00000546741IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-3CDSENST00000217901ENST00000340811IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-3CDSENST00000217901ENST00000070846IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-intronENST00000217901ENST00000546741IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-3CDSENST00000370093ENST00000340811IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-3CDSENST00000370093ENST00000070846IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-intronENST00000370093ENST00000546741IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-3CDSENST00000427365ENST00000340811IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-3CDSENST00000427365ENST00000070846IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-intronENST00000427365ENST00000546741IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-3CDSENST00000497043ENST00000340811IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-3CDSENST00000497043ENST00000070846IDH3GchrX

153051428

+PKP2chr12

32949101

+
intron-intronENST00000497043ENST00000546741IDH3GchrX

153051428

+PKP2chr12

32949101

+

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FusionProtFeatures for IDH3G_PKP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IDH3G

P51553

PKP2

Q99959

Regulatory subunit which plays a role in the allostericregulation of the enzyme catalyzing the decarboxylation ofisocitrate (ICT) into alpha-ketoglutarate. The heterodimercomposed of the alpha (IDH3A) and beta (IDH3B) subunits and theheterodimer composed of the alpha (IDH3A) and gamma (IDH3G)subunits, have considerable basal activity but the full activityof the heterotetramer (containing two subunits of IDH3A, one ofIDH3B and one of IDH3G) requires the assembly and cooperativefunction of both heterodimers. {ECO:0000269|PubMed:28139779}. May play a role in junctional plaques.{ECO:0000269|PubMed:22781308}.

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 IDH3G_PKP2


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 IDH3G_PKP2


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 IDH3G_PKP2


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 IDH3G_PKP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePKP2C1836906Arrhythmogenic Right Ventricular Dysplasia, Familial, 93CTD_human;UNIPROT