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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:PRKCD-TBC1D8 (FusionGDB2 ID:HG5580TG11138)

Fusion Gene Summary for PRKCD-TBC1D8

check button Fusion gene summary
Fusion gene informationFusion gene name: PRKCD-TBC1D8
Fusion gene ID: hg5580tg11138
HgeneTgene
Gene symbol

PRKCD

TBC1D8

Gene ID

5580

11138

Gene nameprotein kinase C deltaTBC1 domain family member 8
SynonymsALPS3|CVID9|MAY1|PKCD|nPKC-deltaAD3|GRAMD8|HBLP1|TBC1D8A|VRP
Cytomap('PRKCD')('TBC1D8')

3p21.1

2q11.2

Type of geneprotein-codingprotein-coding
Descriptionprotein kinase C delta typeprotein kinase C delta VIIItyrosine-protein kinase PRKCDTBC1 domain family member 8BUB2-like protein 1TBC1 domain family, member 8 (with GRAM domain)TBC1 domain family, member 8Avascular Rab-GAP/TBC-containing protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000330452, ENST00000394729, 
ENST00000477794, 
Fusion gene scores* DoF score6 X 6 X 4=1448 X 9 X 4=288
# samples 69
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRKCD [Title/Abstract] AND TBC1D8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPRKCD(53219123)-TBC1D8(101700425), # 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
HgenePRKCD

GO:0006468

protein phosphorylation

10713049|16611985

HgenePRKCD

GO:0006915

apoptotic process

10770950

HgenePRKCD

GO:0016572

histone phosphorylation

19059439

HgenePRKCD

GO:0018105

peptidyl-serine phosphorylation

18285462

HgenePRKCD

GO:0018107

peptidyl-threonine phosphorylation

10770950

HgenePRKCD

GO:0032147

activation of protein kinase activity

10713049

HgenePRKCD

GO:0042119

neutrophil activation

10770950

HgenePRKCD

GO:0070301

cellular response to hydrogen peroxide

10713049

HgenePRKCD

GO:0071447

cellular response to hydroperoxide

19059439

HgenePRKCD

GO:1904385

cellular response to angiotensin

18285462



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/ABI021268PRKCDchr3

53219123

-TBC1D8chr2

101700425

-


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Fusion Gene ORF analysis for PRKCD-TBC1D8

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-intronENST00000330452ENST00000376840PRKCDchr3

53219123

-TBC1D8chr2

101700425

-
intron-intronENST00000330452ENST00000409318PRKCDchr3

53219123

-TBC1D8chr2

101700425

-
intron-intronENST00000330452ENST00000462819PRKCDchr3

53219123

-TBC1D8chr2

101700425

-
intron-intronENST00000394729ENST00000376840PRKCDchr3

53219123

-TBC1D8chr2

101700425

-
intron-intronENST00000394729ENST00000409318PRKCDchr3

53219123

-TBC1D8chr2

101700425

-
intron-intronENST00000394729ENST00000462819PRKCDchr3

53219123

-TBC1D8chr2

101700425

-
intron-intronENST00000477794ENST00000376840PRKCDchr3

53219123

-TBC1D8chr2

101700425

-
intron-intronENST00000477794ENST00000409318PRKCDchr3

53219123

-TBC1D8chr2

101700425

-
intron-intronENST00000477794ENST00000462819PRKCDchr3

53219123

-TBC1D8chr2

101700425

-

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 PRKCD-TBC1D8


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 PRKCD-TBC1D8


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/:53219123/:101700425)
- 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
..
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: 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}.

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 PRKCD-TBC1D8


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 PRKCD-TBC1D8


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 PRKCD-TBC1D8


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 PRKCD-TBC1D8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRKCDC0002152Alloxan Diabetes1CTD_human
HgenePRKCDC0009447Common Variable Immunodeficiency1ORPHANET
HgenePRKCDC0011853Diabetes Mellitus, Experimental1CTD_human
HgenePRKCDC0019193Hepatitis, Toxic1CTD_human
HgenePRKCDC0020538Hypertensive disease1CTD_human
HgenePRKCDC0020672Hypothermia, natural1CTD_human
HgenePRKCDC0021841Intestinal Neoplasms1CTD_human
HgenePRKCDC0022333Jacksonian Seizure1CTD_human
HgenePRKCDC0023893Liver Cirrhosis, Experimental1CTD_human
HgenePRKCDC0036572Seizures1CTD_human
HgenePRKCDC0038433Streptozotocin Diabetes1CTD_human
HgenePRKCDC0149504Encephalopathy, Toxic1CTD_human
HgenePRKCDC0149958Complex partial seizures1CTD_human
HgenePRKCDC0154659Toxic Encephalitis1CTD_human
HgenePRKCDC0234533Generalized seizures1CTD_human
HgenePRKCDC0234535Clonic Seizures1CTD_human
HgenePRKCDC0235032Neurotoxicity Syndromes1CTD_human
HgenePRKCDC0242422Parkinsonian Disorders1CTD_human
HgenePRKCDC0242423Ramsay Hunt Paralysis Syndrome1CTD_human
HgenePRKCDC0270824Visual seizure1CTD_human
HgenePRKCDC0270844Tonic Seizures1CTD_human
HgenePRKCDC0270846Epileptic drop attack1CTD_human
HgenePRKCDC0346627Intestinal Cancer1CTD_human
HgenePRKCDC0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgenePRKCDC0422850Seizures, Somatosensory1CTD_human
HgenePRKCDC0422852Seizures, Auditory1CTD_human
HgenePRKCDC0422853Olfactory seizure1CTD_human
HgenePRKCDC0422854Gustatory seizure1CTD_human
HgenePRKCDC0422855Vertiginous seizure1CTD_human
HgenePRKCDC0494475Tonic - clonic seizures1CTD_human
HgenePRKCDC0751056Non-epileptic convulsion1CTD_human
HgenePRKCDC0751110Single Seizure1CTD_human
HgenePRKCDC0751123Atonic Absence Seizures1CTD_human
HgenePRKCDC0751494Convulsive Seizures1CTD_human
HgenePRKCDC0751495Seizures, Focal1CTD_human
HgenePRKCDC0751496Seizures, Sensory1CTD_human
HgenePRKCDC0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
HgenePRKCDC0752098Autosomal Dominant Parkinsonism1CTD_human
HgenePRKCDC0752100Autosomal Recessive Parkinsonism1CTD_human
HgenePRKCDC0752101Parkinsonism, Experimental1CTD_human
HgenePRKCDC0752104Familial Juvenile Parkinsonism1CTD_human
HgenePRKCDC0752105Parkinsonism, Juvenile1CTD_human
HgenePRKCDC0860207Drug-Induced Liver Disease1CTD_human
HgenePRKCDC1262760Hepatitis, Drug-Induced1CTD_human
HgenePRKCDC1328840Autoimmune Lymphoproliferative Syndrome1ORPHANET
HgenePRKCDC1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
HgenePRKCDC3241937Nonalcoholic Steatohepatitis1CTD_human
HgenePRKCDC3280742SYSTEMIC LUPUS ERYTHEMATOSUS 161ORPHANET
HgenePRKCDC3495874Nonepileptic Seizures1CTD_human
HgenePRKCDC3658290Drug-Induced Acute Liver Injury1CTD_human
HgenePRKCDC3809928AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III1CTD_human;GENOMICS_ENGLAND
HgenePRKCDC4048158Convulsions1CTD_human
HgenePRKCDC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgenePRKCDC4279912Chemically-Induced Liver Toxicity1CTD_human
HgenePRKCDC4316903Absence Seizures1CTD_human
HgenePRKCDC4317109Epileptic Seizures1CTD_human
HgenePRKCDC4317123Myoclonic Seizures1CTD_human
HgenePRKCDC4505436Generalized Absence Seizures1CTD_human