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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:CHRNA3-CHRNA3 (FusionGDB2 ID:HG1136TG1136)

Fusion Gene Summary for CHRNA3-CHRNA3

check button Fusion gene summary
Fusion gene informationFusion gene name: CHRNA3-CHRNA3
Fusion gene ID: hg1136tg1136
HgeneTgene
Gene symbol

CHRNA3

CHRNA3

Gene ID

1136

1136

Gene namecholinergic receptor nicotinic alpha 3 subunitcholinergic receptor nicotinic alpha 3 subunit
SynonymsBAIPRCK|LNCR2|NACHRA3|PAOD2BAIPRCK|LNCR2|NACHRA3|PAOD2
Cytomap('CHRNA3')('CHRNA3')

15q25.1

15q25.1

Type of geneprotein-codingprotein-coding
Descriptionneuronal acetylcholine receptor subunit alpha-3cholinergic receptor, nicotinic alpha 3cholinergic receptor, nicotinic, alpha 3 (neuronal)cholinergic receptor, nicotinic, alpha polypeptide 3neuronal nicotinic acetylcholine receptor, alpha3 subunitneuronal acetylcholine receptor subunit alpha-3cholinergic receptor, nicotinic alpha 3cholinergic receptor, nicotinic, alpha 3 (neuronal)cholinergic receptor, nicotinic, alpha polypeptide 3neuronal nicotinic acetylcholine receptor, alpha3 subunit
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000326828, ENST00000348639, 
ENST00000559941, 		ENST00000326828, 
ENST00000348639, ENST00000559941, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 4 X 3=60
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHRNA3 [Title/Abstract] AND CHRNA3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHRNA3(78888336)-CHRNA3(78893963), # 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
HgeneCHRNA3

GO:0007165

signal transduction

8906617

TgeneCHRNA3

GO:0007165

signal transduction

8906617



check button Fusion gene information
* 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


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Fusion Gene ORF analysis for CHRNA3-CHRNA3

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

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 CHRNA3-CHRNA3


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 CHRNA3-CHRNA3


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/:78888336/:78893963)
- 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 CHRNA3-CHRNA3


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 CHRNA3-CHRNA3


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 CHRNA3-CHRNA3


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 CHRNA3-CHRNA3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHRNA3C0001973Alcoholic Intoxication, Chronic4CTD_human;PSYGENET
HgeneCHRNA3C0600427Cocaine Dependence2PSYGENET
HgeneCHRNA3C1861063TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)2CTD_human
HgeneCHRNA3C0001956Alcohol Use Disorder1CTD_human
HgeneCHRNA3C0013363Dysautonomia1GENOMICS_ENGLAND
HgeneCHRNA3C0022333Jacksonian Seizure1CTD_human
HgeneCHRNA3C0024121Lung Neoplasms1CTD_human
HgeneCHRNA3C0028043Nicotine Dependence1CTD_human
HgeneCHRNA3C0036341Schizophrenia1PSYGENET
HgeneCHRNA3C0036572Seizures1CTD_human
HgeneCHRNA3C0040332Tobacco Dependence1CTD_human
HgeneCHRNA3C0085762Alcohol abuse1CTD_human
HgeneCHRNA3C0149958Complex partial seizures1CTD_human
HgeneCHRNA3C0234533Generalized seizures1CTD_human
HgeneCHRNA3C0234535Clonic Seizures1CTD_human
HgeneCHRNA3C0242379Malignant neoplasm of lung1CTD_human
HgeneCHRNA3C0270824Visual seizure1CTD_human
HgeneCHRNA3C0270844Tonic Seizures1CTD_human
HgeneCHRNA3C0270846Epileptic drop attack1CTD_human
HgeneCHRNA3C0376384Nicotine Use Disorder1CTD_human
HgeneCHRNA3C0422850Seizures, Somatosensory1CTD_human
HgeneCHRNA3C0422852Seizures, Auditory1CTD_human
HgeneCHRNA3C0422853Olfactory seizure1CTD_human
HgeneCHRNA3C0422854Gustatory seizure1CTD_human
HgeneCHRNA3C0422855Vertiginous seizure1CTD_human
HgeneCHRNA3C0494475Tonic - clonic seizures1CTD_human
HgeneCHRNA3C0751056Non-epileptic convulsion1CTD_human
HgeneCHRNA3C0751110Single Seizure1CTD_human
HgeneCHRNA3C0751123Atonic Absence Seizures1CTD_human
HgeneCHRNA3C0751494Convulsive Seizures1CTD_human
HgeneCHRNA3C0751495Seizures, Focal1CTD_human
HgeneCHRNA3C0751496Seizures, Sensory1CTD_human
HgeneCHRNA3C1968949Cakut1GENOMICS_ENGLAND
HgeneCHRNA3C3495874Nonepileptic Seizures1CTD_human
HgeneCHRNA3C4048158Convulsions1CTD_human
HgeneCHRNA3C4316903Absence Seizures1CTD_human
HgeneCHRNA3C4317109Epileptic Seizures1CTD_human
HgeneCHRNA3C4317123Myoclonic Seizures1CTD_human
HgeneCHRNA3C4505436Generalized Absence Seizures1CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic4CTD_human;PSYGENET
TgeneC0600427Cocaine Dependence2PSYGENET
TgeneC1861063TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)2CTD_human
TgeneC0001956Alcohol Use Disorder1CTD_human
TgeneC0013363Dysautonomia1GENOMICS_ENGLAND
TgeneC0022333Jacksonian Seizure1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0028043Nicotine Dependence1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0036572Seizures1CTD_human
TgeneC0040332Tobacco Dependence1CTD_human
TgeneC0085762Alcohol abuse1CTD_human
TgeneC0149958Complex partial seizures1CTD_human
TgeneC0234533Generalized seizures1CTD_human
TgeneC0234535Clonic Seizures1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0270824Visual seizure1CTD_human
TgeneC0270844Tonic Seizures1CTD_human
TgeneC0270846Epileptic drop attack1CTD_human
TgeneC0376384Nicotine Use Disorder1CTD_human
TgeneC0422850Seizures, Somatosensory1CTD_human
TgeneC0422852Seizures, Auditory1CTD_human
TgeneC0422853Olfactory seizure1CTD_human
TgeneC0422854Gustatory seizure1CTD_human
TgeneC0422855Vertiginous seizure1CTD_human
TgeneC0494475Tonic - clonic seizures1CTD_human
TgeneC0751056Non-epileptic convulsion1CTD_human
TgeneC0751110Single Seizure1CTD_human
TgeneC0751123Atonic Absence Seizures1CTD_human
TgeneC0751494Convulsive Seizures1CTD_human
TgeneC0751495Seizures, Focal1CTD_human
TgeneC0751496Seizures, Sensory1CTD_human
TgeneC1968949Cakut1GENOMICS_ENGLAND
TgeneC3495874Nonepileptic Seizures1CTD_human
TgeneC4048158Convulsions1CTD_human
TgeneC4316903Absence Seizures1CTD_human
TgeneC4317109Epileptic Seizures1CTD_human
TgeneC4317123Myoclonic Seizures1CTD_human
TgeneC4505436Generalized Absence Seizures1CTD_human