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:CHRNB2-SEC1P (FusionGDB2 ID:HG1141TG653677)

Fusion Gene Summary for CHRNB2-SEC1P

check button Fusion gene summary
Fusion gene informationFusion gene name: CHRNB2-SEC1P
Fusion gene ID: hg1141tg653677
HgeneTgene
Gene symbol

CHRNB2

SEC1P

Gene ID

1141

653677

Gene namecholinergic receptor nicotinic beta 2 subunit
SynonymsEFNL3|nAChRB2
Cytomap('CHRNB2')('SEC1P')

1q21.3

Type of geneprotein-coding
Descriptionneuronal acetylcholine receptor subunit beta-2acetylcholine receptor, nicotinic, beta 2 (neuronal)beta2 human neuronal nicotinic acetylcholine receptorcholinergic receptor, nicotinic beta 2cholinergic receptor, nicotinic, beta 2 (neuronal)cholinergic
Modification date20200313
UniProtAcc

P17787

.
Ensembl transtripts involved in fusion geneENST00000368476, 
Fusion gene scores* DoF score3 X 3 X 1=94 X 4 X 2=32
# samples 34
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CHRNB2 [Title/Abstract] AND SEC1P [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHRNB2(154552109)-SEC1P(49143438), # samples:2
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
HgeneCHRNB2

GO:0001666

response to hypoxia

12189247

HgeneCHRNB2

GO:0007165

signal transduction

8906617

HgeneCHRNB2

GO:0035094

response to nicotine

12189247



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


Top

Fusion Gene ORF analysis for CHRNB2-SEC1P

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

Top

Fusion Genomic Features for CHRNB2-SEC1P


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 CHRNB2-SEC1P


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/:154552109/:49143438)
- 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
CHRNB2

P17787

.
FUNCTION: After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane permeable to sodiun ions. {ECO:0000269|PubMed:22361591}.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 CHRNB2-SEC1P


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 CHRNB2-SEC1P


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 CHRNB2-SEC1P


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCHRNB2P17787DB00184NicotineAgonistSmall moleculeApproved
HgeneCHRNB2P17787DB00333MethadoneAntagonistSmall moleculeApproved
HgeneCHRNB2P17787DB00514DextromethorphanAntagonistSmall moleculeApproved
HgeneCHRNB2P17787DB00898EthanolSmall moleculeApproved
HgeneCHRNB2P17787DB01245DecamethoniumSmall moleculeApproved
HgeneCHRNB2P17787DB00657MecamylamineSmall moleculeApproved|Investigational
HgeneCHRNB2P17787DB00747ScopolamineSmall moleculeApproved|Investigational
HgeneCHRNB2P17787DB00981PhysostigmineSmall moleculeApproved|Investigational
HgeneCHRNB2P17787DB01273VareniclinePartial agonistSmall moleculeApproved|Investigational
HgeneCHRNB2P17787DB00572AtropineSmall moleculeApproved|Vet_approved
HgeneCHRNB2P17787DB00753IsofluraneAntagonistSmall moleculeApproved|Vet_approved

Top

Related Diseases for CHRNB2-SEC1P


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHRNB2C1854335Epilepsy, Nocturnal Frontal Lobe, Type 33CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCHRNB2C0036341Schizophrenia2PSYGENET
HgeneCHRNB2C0002395Alzheimer's Disease1CTD_human
HgeneCHRNB2C0003469Anxiety Disorders1CTD_human
HgeneCHRNB2C0004352Autistic Disorder1CTD_human
HgeneCHRNB2C0011265Presenile dementia1CTD_human
HgeneCHRNB2C0020672Hypothermia, natural1CTD_human
HgeneCHRNB2C0021368Inflammation1CTD_human
HgeneCHRNB2C0027746Nerve Degeneration1CTD_human
HgeneCHRNB2C0034933Reflex, Abnormal1CTD_human
HgeneCHRNB2C0038587Substance Withdrawal Syndrome1CTD_human
HgeneCHRNB2C0038644Sudden infant death syndrome1CTD_human
HgeneCHRNB2C0041671Attention Deficit Disorder1CTD_human
HgeneCHRNB2C0085541Epilepsy, Frontal Lobe1CTD_human
HgeneCHRNB2C0086189Drug Withdrawal Symptoms1CTD_human
HgeneCHRNB2C0087169Withdrawal Symptoms1CTD_human
HgeneCHRNB2C0151572Reflex, Corneal, Decreased1CTD_human
HgeneCHRNB2C0151888Hyporeflexia1CTD_human
HgeneCHRNB2C0151889Hyperreflexia1CTD_human
HgeneCHRNB2C0234146Absent reflex1CTD_human
HgeneCHRNB2C0234784Reflex, Gag, Absent1CTD_human
HgeneCHRNB2C0241772Reflex, Deep Tendon, Absent1CTD_human
HgeneCHRNB2C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneCHRNB2C0277839Hoffman's Reflex1CTD_human
HgeneCHRNB2C0277850Reflex, Pendular1CTD_human
HgeneCHRNB2C0278211Reflex, Corneal, Absent1CTD_human
HgeneCHRNB2C0376280Anxiety States, Neurotic1CTD_human
HgeneCHRNB2C0393671Frontal Epilepsy, Benign, Childhood1CTD_human
HgeneCHRNB2C0393683Epilepsy, Supplementary Motor1CTD_human
HgeneCHRNB2C0393684Epilepsy, Cingulate1CTD_human
HgeneCHRNB2C0393688Epilepsy, Opercular1CTD_human
HgeneCHRNB2C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneCHRNB2C0522345Reflex, Acoustic, Abnormal1CTD_human
HgeneCHRNB2C0546126Acute Confusional Senile Dementia1CTD_human
HgeneCHRNB2C0558845Reflex, Ankle, Absent1CTD_human
HgeneCHRNB2C0558846Reflex, Triceps, Absent1CTD_human
HgeneCHRNB2C0558847Reflex, Biceps, Absent1CTD_human
HgeneCHRNB2C0576612Reflex, Anal, Absent1CTD_human
HgeneCHRNB2C0743002Abnormal Deep Tendon Reflex1CTD_human
HgeneCHRNB2C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneCHRNB2C0750901Alzheimer Disease, Early Onset1CTD_human
HgeneCHRNB2C0751468Bulbocavernosus Reflex, Decreased1CTD_human
HgeneCHRNB2C0751469Bulbocavernousus Reflex Absent1CTD_human
HgeneCHRNB2C0751470Palmo-Mental Reflex1CTD_human
HgeneCHRNB2C0751471Reflex, Anal, Decreased1CTD_human
HgeneCHRNB2C0751472Reflex, Ankle, Abnormal1CTD_human
HgeneCHRNB2C0751473Reflex, Ankle, Decreased1CTD_human
HgeneCHRNB2C0751474Reflex, Biceps, Abnormal1CTD_human
HgeneCHRNB2C0751475Reflex, Biceps, Decreased1CTD_human
HgeneCHRNB2C0751476Reflex, Gag, Decreased1CTD_human
HgeneCHRNB2C0751477Reflex, Knee, Abnormal1CTD_human
HgeneCHRNB2C0751478Reflex, Knee, Decreased1CTD_human
HgeneCHRNB2C0751479Reflex, Moro, Asymmetric1CTD_human
HgeneCHRNB2C0751480Reflex, Triceps, Abnormal1CTD_human
HgeneCHRNB2C0751481Reflex, Triceps, Decreased1CTD_human
HgeneCHRNB2C0751508Long Sleeper Syndrome1CTD_human
HgeneCHRNB2C0751509Short Sleeper Syndrome1CTD_human
HgeneCHRNB2C0751510Sleep-Related Neurogenic Tachypnea1CTD_human
HgeneCHRNB2C0751511Subwakefullness Syndrome1CTD_human
HgeneCHRNB2C0751642Epilepsy, Anterior Fronto-Polar1CTD_human
HgeneCHRNB2C0751643Epilepsy, Orbito-Frontal1CTD_human
HgeneCHRNB2C0851578Sleep Disorders1CTD_human
HgeneCHRNB2C1263846Attention deficit hyperactivity disorder1CTD_human
HgeneCHRNB2C1279420Anxiety neurosis (finding)1CTD_human
HgeneCHRNB2C1321905Minimal Brain Dysfunction1CTD_human
HgeneCHRNB2C3696898Autosomal Dominant Nocturnal Frontal Lobe Epilepsy1ORPHANET
HgeneCHRNB2C4042891Sleep Wake Disorders1CTD_human