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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: 28072

FusionGeneSummary for PPA2_TBCK

check button Fusion gene summary
Fusion gene informationFusion gene name: PPA2_TBCK
Fusion gene ID: 28072
HgeneTgene
Gene symbol

PPA2

TBCK

Gene ID

27068

93627

Gene namepyrophosphatase (inorganic) 2TBC1 domain containing kinase
SynonymsHSPC124|SCFAI|SCFI|SID6-306HSPC302|IHPRF3|TBCKL
Cytomap

4q24

4q24

Type of geneprotein-codingprotein-coding
Descriptioninorganic pyrophosphatase 2, mitochondrialPPase 2pyrophosphatase SID6-306pyrophosphate phospho-hydrolase 2TBC domain-containing protein kinase-like protein
Modification date2018052320180523
UniProtAcc

Q9H2U2

Q8TEA7

Ensembl transtripts involved in fusion geneENST00000341695, ENST00000348706, 
ENST00000432483, ENST00000354147, 
ENST00000380004, ENST00000357415, 
ENST00000509426, ENST00000310267, 
ENST00000273980, ENST00000432496, 
ENST00000361687, ENST00000394706, 
ENST00000394708, ENST00000514689, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: PPA2 [Title/Abstract] AND TBCK [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
TCGALDLUADTCGA-44-5643-01APPA2chr4

106395051

-TBCKchr4

107016798

-
* 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
Frame-shiftENST00000341695ENST00000273980PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000341695ENST00000432496PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000341695ENST00000361687PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000341695ENST00000394706PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000341695ENST00000394708PPA2chr4

106395051

-TBCKchr4

107016798

-
5CDS-intronENST00000341695ENST00000514689PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000348706ENST00000273980PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000348706ENST00000432496PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000348706ENST00000361687PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000348706ENST00000394706PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000348706ENST00000394708PPA2chr4

106395051

-TBCKchr4

107016798

-
5CDS-intronENST00000348706ENST00000514689PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000432483ENST00000273980PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000432483ENST00000432496PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000432483ENST00000361687PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000432483ENST00000394706PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000432483ENST00000394708PPA2chr4

106395051

-TBCKchr4

107016798

-
5CDS-intronENST00000432483ENST00000514689PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000354147ENST00000273980PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000354147ENST00000432496PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000354147ENST00000361687PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000354147ENST00000394706PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000354147ENST00000394708PPA2chr4

106395051

-TBCKchr4

107016798

-
5CDS-intronENST00000354147ENST00000514689PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000380004ENST00000273980PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000380004ENST00000432496PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000380004ENST00000361687PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000380004ENST00000394706PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000380004ENST00000394708PPA2chr4

106395051

-TBCKchr4

107016798

-
5CDS-intronENST00000380004ENST00000514689PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000357415ENST00000273980PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000357415ENST00000432496PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000357415ENST00000361687PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000357415ENST00000394706PPA2chr4

106395051

-TBCKchr4

107016798

-
Frame-shiftENST00000357415ENST00000394708PPA2chr4

106395051

-TBCKchr4

107016798

-
5CDS-intronENST00000357415ENST00000514689PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000509426ENST00000273980PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000509426ENST00000432496PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000509426ENST00000361687PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000509426ENST00000394706PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000509426ENST00000394708PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-intronENST00000509426ENST00000514689PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000310267ENST00000273980PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000310267ENST00000432496PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000310267ENST00000361687PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000310267ENST00000394706PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-3CDSENST00000310267ENST00000394708PPA2chr4

106395051

-TBCKchr4

107016798

-
5UTR-intronENST00000310267ENST00000514689PPA2chr4

106395051

-TBCKchr4

107016798

-

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FusionProtFeatures for PPA2_TBCK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPA2

Q9H2U2

TBCK

Q8TEA7


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 PPA2_TBCK


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 PPA2_TBCK


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
PPA2VKORC1, BAG3, MTIF2, HIST1H1D, ACSF2, CLUH, ACADVL, ACSS1, GLS, PNPT1, CLPP, PCCB, NNT, ARPIN, LYRM7, NIPSNAP3A, MECR, PDPR, CAT, CD2AP, DUT, HIBCH, NEDD8, AIP, CHCHD2, EZR, FKBP14, METTL1, NAV1, PLIN3, UFM1, PPP1R11, SCPEP1, TANGO2, COMT, ZWINT, DUSP13, SYNC, NDUFAF5TBCKAPP, STAM, PCDHB15, PPP1R21, IL6R, TCP10L


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


Top

RelatedDrugs for PPA2_TBCK


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 PPA2_TBCK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTBCKC4225161HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 32UNIPROT