Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:PLCB4-NGF (FusionGDB2 ID:HG5332TG4803)

Fusion Gene Summary for PLCB4-NGF

check button Fusion gene summary
Fusion gene informationFusion gene name: PLCB4-NGF
Fusion gene ID: hg5332tg4803
HgeneTgene
Gene symbol

PLCB4

NGF

Gene ID

5332

4803

Gene namephospholipase C beta 4nerve growth factor
SynonymsARCND2|PI-PLCBeta-NGF|HSAN5|NGFB
Cytomap('PLCB4')('NGF')

20p12.3-p12.2

1p13.2

Type of geneprotein-codingprotein-coding
Description1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-41-phosphatidyl-D-myo-inositol-4,5-bisphosphatePLC-beta-4dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))inositoltrisphosphohydrolasebeta-nerve growth factornerve growth factor (beta polypeptide)nerve growth factor, beta subunitpro-nerve growth factor long
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000278655, ENST00000334005, 
ENST00000378473, ENST00000378493, 
ENST00000378501, ENST00000414679, 
ENST00000492632, 
Fusion gene scores* DoF score10 X 10 X 6=6001 X 1 X 1=1
# samples 101
** MAII scorelog2(10/600*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: PLCB4 [Title/Abstract] AND NGF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPLCB4(9382349)-NGF(115879932), # 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
TgeneNGF

GO:0008625

extrinsic apoptotic signaling pathway via death domain receptors

14985763

TgeneNGF

GO:0048812

neuron projection morphogenesis

17724343



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/AAW023406PLCB4chr20

9382349

+NGFchr1

115879932

-


Top

Fusion Gene ORF analysis for PLCB4-NGF

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-intronENST00000278655ENST00000369512PLCB4chr20

9382349

+NGFchr1

115879932

-
intron-intronENST00000334005ENST00000369512PLCB4chr20

9382349

+NGFchr1

115879932

-
intron-intronENST00000378473ENST00000369512PLCB4chr20

9382349

+NGFchr1

115879932

-
intron-intronENST00000378493ENST00000369512PLCB4chr20

9382349

+NGFchr1

115879932

-
intron-intronENST00000378501ENST00000369512PLCB4chr20

9382349

+NGFchr1

115879932

-
intron-intronENST00000414679ENST00000369512PLCB4chr20

9382349

+NGFchr1

115879932

-
intron-intronENST00000492632ENST00000369512PLCB4chr20

9382349

+NGFchr1

115879932

-

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

Top

Fusion Genomic Features for PLCB4-NGF


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)


Top

Fusion Protein Features for PLCB4-NGF


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/:9382349/:115879932)
- 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


Top

Fusion Gene Sequence for PLCB4-NGF


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.

Top

Fusion Gene PPI Analysis for PLCB4-NGF


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


Top

Related Drugs for PLCB4-NGF


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

Top

Related Diseases for PLCB4-NGF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLCB4C0025202melanoma1CTD_human
HgenePLCB4C0152423Congenital small ears1GENOMICS_ENGLAND
HgenePLCB4C0220633Uveal melanoma1CTD_human
HgenePLCB4C1865295Auriculo-condylar syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgenePLCB4C3553404AURICULOCONDYLAR SYNDROME 21GENOMICS_ENGLAND;UNIPROT
TgeneC0020075Hereditary Sensory Autonomic Neuropathy, Type 56CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0002622Amnesia2CTD_human
TgeneC0038220Status Epilepticus2CTD_human
TgeneC0233750Hysterical amnesia2CTD_human
TgeneC0233796Temporary Amnesia2CTD_human
TgeneC0236795Dissociative Amnesia2CTD_human
TgeneC0262497Global Amnesia2CTD_human
TgeneC0270823Petit mal status2CTD_human
TgeneC0311335Grand Mal Status Epilepticus2CTD_human
TgeneC0393734Complex Partial Status Epilepticus2CTD_human
TgeneC0750906Tactile Amnesia2CTD_human
TgeneC0750907Amnestic State2CTD_human
TgeneC0751522Status Epilepticus, Subclinical2CTD_human
TgeneC0751523Non-Convulsive Status Epilepticus2CTD_human
TgeneC0751524Simple Partial Status Epilepticus2CTD_human
TgeneC0002768Congenital Pain Insensitivity1ORPHANET
TgeneC0009171Cocaine Abuse1CTD_human
TgeneC0010043Corneal Ulcer1CTD_human
TgeneC0010692Cystitis1CTD_human
TgeneC0011570Mental Depression1PSYGENET
TgeneC0011581Depressive disorder1PSYGENET
TgeneC0014549Tonic-Clonic Epilepsy1CTD_human
TgeneC0017658Glomerulonephritis1CTD_human
TgeneC0019337Heroin Dependence1CTD_human
TgeneC0020429Hyperalgesia1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0022333Jacksonian Seizure1CTD_human
TgeneC0022661Kidney Failure, Chronic1CTD_human
TgeneC0027707Nephritis, Interstitial1CTD_human
TgeneC0027746Nerve Degeneration1CTD_human
TgeneC0027765nervous system disorder1CTD_human
TgeneC0030567Parkinson Disease1CTD_human
TgeneC0036572Seizures1CTD_human
TgeneC0037299Skin Ulcer1CTD_human
TgeneC0041349Nephritis, Tubulointerstitial1CTD_human
TgeneC0085129Bronchial Hyperreactivity1CTD_human
TgeneC0149958Complex partial seizures1CTD_human
TgeneC0234533Generalized seizures1CTD_human
TgeneC0234535Clonic Seizures1CTD_human
TgeneC0236663Alcohol withdrawal syndrome1PSYGENET
TgeneC0236736Cocaine-Related Disorders1CTD_human
TgeneC0238281Middle Cerebral Artery Syndrome1CTD_human
TgeneC0242422Parkinsonian Disorders1CTD_human
TgeneC0242423Ramsay Hunt Paralysis Syndrome1CTD_human
TgeneC0268849Overactive Detrusor1CTD_human
TgeneC0270715Degenerative Diseases, Central Nervous System1CTD_human
TgeneC0270824Visual seizure1CTD_human
TgeneC0270844Tonic Seizures1CTD_human
TgeneC0270846Epileptic drop attack1CTD_human
TgeneC0273115Lung Injury1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0403447Chronic Kidney Insufficiency1CTD_human
TgeneC0422850Seizures, Somatosensory1CTD_human
TgeneC0422852Seizures, Auditory1CTD_human
TgeneC0422853Olfactory seizure1CTD_human
TgeneC0422854Gustatory seizure1CTD_human
TgeneC0422855Vertiginous seizure1CTD_human
TgeneC0458247Allodynia1CTD_human
TgeneC0494475Tonic - clonic seizures1CTD_human
TgeneC0524851Neurodegenerative Disorders1CTD_human
TgeneC0525041Neurobehavioral Manifestations1CTD_human
TgeneC0600241heroin abuse1CTD_human
TgeneC0600427Cocaine Dependence1CTD_human
TgeneC0600467Neurogenic Inflammation1CTD_human
TgeneC0740376Middle Cerebral Artery Thrombosis1CTD_human
TgeneC0740391Middle Cerebral Artery Occlusion1CTD_human
TgeneC0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751056Non-epileptic convulsion1CTD_human
TgeneC0751110Single Seizure1CTD_human
TgeneC0751117Cryptogenic Tonic-Clonic Epilepsy1CTD_human
TgeneC0751118Epilepsy, Tonic-Clonic, Familial1CTD_human
TgeneC0751119Epilepsy, Tonic-Clonic, Symptomatic1CTD_human
TgeneC0751123Atonic Absence Seizures1CTD_human
TgeneC0751211Hyperalgesia, Primary1CTD_human
TgeneC0751212Hyperalgesia, Secondary1CTD_human
TgeneC0751213Tactile Allodynia1CTD_human
TgeneC0751214Hyperalgesia, Thermal1CTD_human
TgeneC0751217Hyperkinesia, Generalized1CTD_human
TgeneC0751494Convulsive Seizures1CTD_human
TgeneC0751495Seizures, Focal1CTD_human
TgeneC0751496Seizures, Sensory1CTD_human
TgeneC0751733Degenerative Diseases, Spinal Cord1CTD_human
TgeneC0751845Middle Cerebral Artery Embolus1CTD_human
TgeneC0751846Left Middle Cerebral Artery Infarction1CTD_human
TgeneC0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751849Right Middle Cerebral Artery Infarction1CTD_human
TgeneC0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
TgeneC0752098Autosomal Dominant Parkinsonism1CTD_human
TgeneC0752100Autosomal Recessive Parkinsonism1CTD_human
TgeneC0752101Parkinsonism, Experimental1CTD_human
TgeneC0752104Familial Juvenile Parkinsonism1CTD_human
TgeneC0752105Parkinsonism, Juvenile1CTD_human
TgeneC0752347Lewy Body Disease1CTD_human
TgeneC0878773Overactive Bladder1CTD_human
TgeneC1561643Chronic Kidney Diseases1CTD_human
TgeneC1704377Bright Disease1CTD_human
TgeneC1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
TgeneC2350344Chronic Lung Injury1CTD_human
TgeneC2936719Mechanical Allodynia1CTD_human
TgeneC3495874Nonepileptic Seizures1CTD_human
TgeneC3887506Hyperkinesia1CTD_human
TgeneC4048158Convulsions1CTD_human
TgeneC4316903Absence Seizures1CTD_human
TgeneC4317109Epileptic Seizures1CTD_human
TgeneC4317123Myoclonic Seizures1CTD_human
TgeneC4505390Heroin Smoking1CTD_human
TgeneC4505436Generalized Absence Seizures1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human