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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PRKRA-C6 (FusionGDB2 ID:HG8575TG729)

Fusion Gene Summary for PRKRA-C6

check button Fusion gene summary
Fusion gene informationFusion gene name: PRKRA-C6
Fusion gene ID: hg8575tg729
HgeneTgene
Gene symbol

PRKRA

C6

Gene ID

8575

729

Gene nameprotein activator of interferon induced protein kinase EIF2AK2complement C6
SynonymsDYT16|HSD14|PACT|RAX-
Cytomap('PRKRA')('C6')

2q31.2

5p13.1

Type of geneprotein-codingprotein-coding
Descriptioninterferon-inducible double-stranded RNA-dependent protein kinase activator APKR-associated protein XPKR-associating protein Xprotein activator of the interferon-induced protein kinaseprotein kinase, interferon-inducible double-stranded RNA-dependent complement component C6complement component 6
Modification date2020032220200313
UniProtAcc.

P13671

Ensembl transtripts involved in fusion geneENST00000325748, ENST00000432031, 
ENST00000438687, ENST00000470200, 
ENST00000487082, 
Fusion gene scores* DoF score5 X 5 X 4=1004 X 4 X 3=48
# samples 54
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRKRA [Title/Abstract] AND C6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPRKRA(179298109)-C6(41224893), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgenePRKRA

GO:0030422

production of siRNA involved in RNA interference

17452327

HgenePRKRA

GO:0031054

pre-miRNA processing

16424907|23661684

HgenePRKRA

GO:0035196

production of miRNAs involved in gene silencing by miRNA

23661684



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABM987673PRKRAchr2

179298109

-C6chr5

41224893

-


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Fusion Gene ORF analysis for PRKRA-C6

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-intronENST00000325748ENST00000263413PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000325748ENST00000337836PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000325748ENST00000475349PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000432031ENST00000263413PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000432031ENST00000337836PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000432031ENST00000475349PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000438687ENST00000263413PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000438687ENST00000337836PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000438687ENST00000475349PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000470200ENST00000263413PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000470200ENST00000337836PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000470200ENST00000475349PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000487082ENST00000263413PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000487082ENST00000337836PRKRAchr2

179298109

-C6chr5

41224893

-
intron-intronENST00000487082ENST00000475349PRKRAchr2

179298109

-C6chr5

41224893

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PRKRA-C6


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for PRKRA-C6


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:179298109/:41224893)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.C6

P13671

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.

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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Fusion Gene Sequence for PRKRA-C6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PRKRA-C6


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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Related Drugs for PRKRA-C6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PRKRA-C6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRKRAC2677567DYSTONIA 16 (disorder)5GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePRKRAC0013421Dystonia3CTD_human;GENOMICS_ENGLAND
HgenePRKRAC0020796Profound Mental Retardation1CTD_human
HgenePRKRAC0025363Mental Retardation, Psychosocial1CTD_human
HgenePRKRAC0242422Parkinsonian Disorders1CTD_human
HgenePRKRAC0242423Ramsay Hunt Paralysis Syndrome1CTD_human
HgenePRKRAC0376634Craniofacial Abnormalities1CTD_human
HgenePRKRAC0393593Dystonia Disorders1CTD_human
HgenePRKRAC0393598Idiopathic familial dystonia1CTD_human
HgenePRKRAC0743332Focal Dystonia1CTD_human
HgenePRKRAC0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
HgenePRKRAC0752098Autosomal Dominant Parkinsonism1CTD_human
HgenePRKRAC0752100Autosomal Recessive Parkinsonism1CTD_human
HgenePRKRAC0752101Parkinsonism, Experimental1CTD_human
HgenePRKRAC0752104Familial Juvenile Parkinsonism1CTD_human
HgenePRKRAC0752105Parkinsonism, Juvenile1CTD_human
HgenePRKRAC0752197Adult-Onset Dystonias1CTD_human
HgenePRKRAC0752198Adult-Onset Idiopathic Focal Dystonias1CTD_human
HgenePRKRAC0752199Adult-Onset Idiopathic Torsion Dystonias1CTD_human
HgenePRKRAC0752200Autosomal Dominant Familial Dystonia1CTD_human
HgenePRKRAC0752201Autosomal Recessive Familial Dystonia1CTD_human
HgenePRKRAC0752202Childhood Onset Dystonias1CTD_human
HgenePRKRAC0752203Dystonia, Primary1CTD_human
HgenePRKRAC0752205Dystonia, Secondary1CTD_human
HgenePRKRAC0752206Dystonias, Sporadic1CTD_human
HgenePRKRAC0752207Familial Dystonia1CTD_human
HgenePRKRAC0752208Pseudodystonia1CTD_human
HgenePRKRAC0917816Mental deficiency1CTD_human
HgenePRKRAC1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
HgenePRKRAC3714756Intellectual Disability1CTD_human
HgenePRKRAC4316810Writer's Cramp1CTD_human
TgeneC0006663Calcinosis1CTD_human
TgeneC0018824Heart valve disease1CTD_human
TgeneC0263628Tumoral calcinosis1CTD_human
TgeneC0272242Complement deficiency disease1GENOMICS_ENGLAND
TgeneC0521174Microcalcification1CTD_human
TgeneC2676232Complement Component 6 Deficiency1CTD_human;GENOMICS_ENGLAND