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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: 28747

FusionGeneSummary for PRKCH_PMPCB

check button Fusion gene summary
Fusion gene informationFusion gene name: PRKCH_PMPCB
Fusion gene ID: 28747
HgeneTgene
Gene symbol

PRKCH

PMPCB

Gene ID

5583

9512

Gene nameprotein kinase C etapeptidase, mitochondrial processing beta subunit
SynonymsPKC-L|PKCL|PRKCL|nPKC-etaBeta-MPP|MPP11|MPPB|MPPP52|P-52
Cytomap

14q23.1

7q22.1

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C eta typemitochondrial-processing peptidase subunit betamitochondrial processing peptidase beta subunitpeptidase (mitochondrial processing) beta
Modification date2018052320180523
UniProtAcc

P24723

O75439

Ensembl transtripts involved in fusion geneENST00000332981, ENST00000555082, 
ENST00000556245, 
ENST00000249269, 
ENST00000428154, ENST00000420236, 
Fusion gene scores* DoF score4 X 4 X 2=325 X 5 X 1=25
# samples 46
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: PRKCH [Title/Abstract] AND PMPCB [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
ChiTaRS3.1BE929033PRKCHchr14

61814591

+PMPCBchr7

102940745

-
* 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-3CDSENST00000332981ENST00000249269PRKCHchr14

61814591

+PMPCBchr7

102940745

-
intron-3CDSENST00000332981ENST00000428154PRKCHchr14

61814591

+PMPCBchr7

102940745

-
intron-3CDSENST00000332981ENST00000420236PRKCHchr14

61814591

+PMPCBchr7

102940745

-
intron-3CDSENST00000555082ENST00000249269PRKCHchr14

61814591

+PMPCBchr7

102940745

-
intron-3CDSENST00000555082ENST00000428154PRKCHchr14

61814591

+PMPCBchr7

102940745

-
intron-3CDSENST00000555082ENST00000420236PRKCHchr14

61814591

+PMPCBchr7

102940745

-
intron-3CDSENST00000556245ENST00000249269PRKCHchr14

61814591

+PMPCBchr7

102940745

-
intron-3CDSENST00000556245ENST00000428154PRKCHchr14

61814591

+PMPCBchr7

102940745

-
intron-3CDSENST00000556245ENST00000420236PRKCHchr14

61814591

+PMPCBchr7

102940745

-

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FusionProtFeatures for PRKCH_PMPCB


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

P24723

PMPCB

O75439

Calcium-independent, phospholipid- and diacylglycerol(DAG)-dependent serine/threonine-protein kinase that is involvedin the regulation of cell differentiation in keratinocytes andpre-B cell receptor, mediates regulation of epithelial tightjunction integrity and foam cell formation, and is required forglioblastoma proliferation and apoptosis prevention in MCF-7cells. In keratinocytes, binds and activates the tyrosine kinaseFYN, which in turn blocks epidermal growth factor receptor (EGFR)signaling and leads to keratinocyte growth arrest anddifferentiation. Associates with the cyclin CCNE1-CDK2-CDKN1Bcomplex and inhibits CDK2 kinase activity, leading to RB1dephosphorylation and thereby G1 arrest in keratinocytes. Inassociation with RALA activates actin depolymerization, which isnecessary for keratinocyte differentiation. In the pre-B cellreceptor signaling, functions downstream of BLNK by up-regulatingIRF4, which in turn activates L chain gene rearrangement.Regulates epithelial tight junctions (TJs) by phosphorylatingoccludin (OCLN) on threonine residues, which is necessary for theassembly and maintenance of TJs. In association with PLD2 and viaTLR4 signaling, is involved in lipopolysaccharide (LPS)-inducedRGS2 down-regulation and foam cell formation. Upon PMAstimulation, mediates glioblastoma cell proliferation byactivating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection ofglioblastoma cells from irradiation-induced apoptosis bypreventing caspase-9 activation. In camptothecin-treated MCF-7cells, regulates NF-kappa-B upstream signaling by activatingIKBKB, and confers protection against DNA damage-inducedapoptosis. Promotes oncogenic functions of ATF2 in the nucleuswhile blocking its apoptotic function at mitochondria.Phosphorylates ATF2 which promotes its nuclear retention andtranscriptional activity and negatively regulates itsmitochondrial localization. {ECO:0000269|PubMed:10806212,ECO:0000269|PubMed:11112424, ECO:0000269|PubMed:11772428,ECO:0000269|PubMed:15489897, ECO:0000269|PubMed:17146445,ECO:0000269|PubMed:18780722, ECO:0000269|PubMed:19114660,ECO:0000269|PubMed:20558593, ECO:0000269|PubMed:21820409,ECO:0000269|PubMed:22304920}. Cleaves presequences (transit peptides) frommitochondrial protein precursors. {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 PRKCH_PMPCB


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 PRKCH_PMPCB


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 PRKCH_PMPCB


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 PRKCH_PMPCB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRKCHC0028754Obesity1CTD_human
HgenePRKCHC0236969Substance-Related Disorders1CTD_human