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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: 28676

FusionGeneSummary for PRKACA_NDOR1

check button Fusion gene summary
Fusion gene informationFusion gene name: PRKACA_NDOR1
Fusion gene ID: 28676
HgeneTgene
Gene symbol

PRKACA

NDOR1

Gene ID

5578

27158

Gene nameprotein kinase C alphaNADPH dependent diflavin oxidoreductase 1
SynonymsAAG6|PKC-alpha|PKCA|PRKACACIAE1|NR1|bA350O14.9
Cytomap

17q24.2

9q34.3

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C alpha typePKC-Aaging-associated gene 6NADPH-dependent diflavin oxidoreductase 1NADPH-dependent FMN and FAD-containing oxidoreductase
Modification date2018052320180523
UniProtAcc

P17612

Q9UHB4

Ensembl transtripts involved in fusion geneENST00000308677, ENST00000350356, 
ENST00000590853, ENST00000589994, 
ENST00000371521, ENST00000344894, 
ENST00000427047, ENST00000458322, 
Fusion gene scores* DoF score3 X 4 X 3=361 X 1 X 1=1
# samples 41
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(1/1*10)=3.32192809488736
Context

PubMed: PRKACA [Title/Abstract] AND NDOR1 [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
HgenePRKACA

GO:0006468

protein phosphorylation

10770950

HgenePRKACA

GO:0035408

histone H3-T6 phosphorylation

20228790

HgenePRKACA

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

HgenePRKACA

GO:0090330

regulation of platelet aggregation

12724315

TgeneNDOR1

GO:0008219

cell death

16140270

TgeneNDOR1

GO:0036245

cellular response to menadione

16140270

TgeneNDOR1

GO:0055114

oxidation-reduction process

10625700|12631275|15900210


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
ChiTaRS3.1BQ278860PRKACAchr19

14203311

-NDOR1chr9

140110420

+
* 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-3CDSENST00000308677ENST00000371521PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000308677ENST00000344894PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000308677ENST00000427047PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000308677ENST00000458322PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000350356ENST00000371521PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000350356ENST00000344894PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000350356ENST00000427047PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000350356ENST00000458322PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000590853ENST00000371521PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000590853ENST00000344894PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000590853ENST00000427047PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000590853ENST00000458322PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000589994ENST00000371521PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000589994ENST00000344894PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000589994ENST00000427047PRKACAchr19

14203311

-NDOR1chr9

140110420

+
intron-3CDSENST00000589994ENST00000458322PRKACAchr19

14203311

-NDOR1chr9

140110420

+

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FusionProtFeatures for PRKACA_NDOR1


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

P17612

NDOR1

Q9UHB4

Phosphorylates a large number of substrates in thecytoplasm and the nucleus. Regulates the abundance ofcompartmentalized pools of its regulatory subunits throughphosphorylation of PJA2 which binds and ubiquitinates thesesubunits, leading to their subsequent proteolysis. PhosphorylatesCDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA and VASP.RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenicdifferentiation inhibition from osteoblasts. Involved in theregulation of platelets in response to thrombin and collagen;maintains circulating platelets in a resting state byphosphorylating proteins in numerous platelet inhibitory pathwayswhen in complex with NF-kappa-B (NFKB1 and NFKB2) and I-kappa-B-alpha (NFKBIA), but thrombin and collagen disrupt these complexesand free active PRKACA stimulates platelets and leads to plateletaggregation by phosphorylating VASP. Prevents theantiproliferative and anti-invasive effects of alpha-difluoromethylornithine in breast cancer cells when activated.RYR2 channel activity is potentiated by phosphorylation inpresence of luminal Ca(2+), leading to reduced amplitude andincreased frequency of store overload-induced Ca(2+) release(SOICR) characterized by an increased rate of Ca(2+) release andpropagation velocity of spontaneous Ca(2+) waves, despite reducedwave amplitude and resting cytosolic Ca(2+). PSMC5/RPT6 activationby phosphorylation stimulates proteasome. Negatively regulatestight junctions (TJs) in ovarian cancer cells via CLDN3phosphorylation. NFKB1 phosphorylation promotes NF-kappa-B p50-p50DNA binding. Involved in embryonic development by down-regulatingthe Hedgehog (Hh) signaling pathway that determines embryo patternformation and morphogenesis. Prevents meiosis resumption inprophase-arrested oocytes via CDC25B inactivation byphosphorylation. May also regulate rapid eye movement (REM) sleepin the pedunculopontine tegmental (PPT). Phosphorylates APOBEC3Gand AICDA. Isoform 2 phosphorylates and activates ABL1 in spermflagellum to promote spermatozoa capacitation. PhosphorylatesHSF1; this phosphorylation promotes HSF1 nuclear localization andtranscriptional activity upon heat shock (PubMed:21085490).{ECO:0000269|PubMed:15642694, ECO:0000269|PubMed:15905176,ECO:0000269|PubMed:16387847, ECO:0000269|PubMed:17333334,ECO:0000269|PubMed:17565987, ECO:0000269|PubMed:17693412,ECO:0000269|PubMed:18836454, ECO:0000269|PubMed:19949837,ECO:0000269|PubMed:20356841, ECO:0000269|PubMed:21085490,ECO:0000269|PubMed:21423175, ECO:0000269|PubMed:21514275,ECO:0000269|PubMed:21812984}. Component of the cytosolic iron-sulfur (Fe-S) proteinassembly (CIA) machinery. Required for the maturation ofextramitochondrial Fe-S proteins (By similarity). Part of anelectron transfer chain functioning in an early step of cytosolicFe-S biogenesis. Transfers electrons from NADPH to the Fe/Scluster of CIAPIN1. {ECO:0000255|HAMAP-Rule:MF_03178,ECO:0000269|PubMed:10625700, ECO:0000269|PubMed:20802492,ECO:0000269|PubMed:23596212}.

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 PRKACA_NDOR1


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 PRKACA_NDOR1


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 PRKACA_NDOR1


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 PRKACA_NDOR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRKACAC0001624Adrenal Gland Neoplasms1CTD_human
HgenePRKACAC0206698Cholangiocarcinoma1CTD_human
HgenePRKACAC4014425PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 41UNIPROT