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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:CHRNA7-CHRFAM7A (FusionGDB2 ID:HG1139TG89832)

Fusion Gene Summary for CHRNA7-CHRFAM7A

check button Fusion gene summary
Fusion gene informationFusion gene name: CHRNA7-CHRFAM7A
Fusion gene ID: hg1139tg89832
HgeneTgene
Gene symbol

CHRNA7

CHRFAM7A

Gene ID

1139

89832

Gene namecholinergic receptor nicotinic alpha 7 subunitCHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion
SynonymsCHRNA7-2|NACHRA7CHRNA7|CHRNA7-DR1|D-10|NACHRA7
Cytomap('CHRNA7')('CHRFAM7A')

15q13.3

15q13.2

Type of geneprotein-codingprotein-coding
Descriptionneuronal acetylcholine receptor subunit alpha-7a7 nicotinic acetylcholine receptoralpha 7 neuronal nicotinic acetylcholine receptoralpha-7 nicotinic cholinergic receptor subunitcholinergic receptor, nicotinic alpha 7cholinergic receptor, nicotinic, aCHRNA7-FAM7A fusion proteinCHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusionCHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and FAM7A (family with seq
Modification date2020032920200313
UniProtAcc.

Q494W8

Ensembl transtripts involved in fusion geneENST00000306901, ENST00000454250, 
ENST00000455693, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 4 X 2=24
# samples 54
** MAII scorelog2(5/18*10)=1.47393118833241
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CHRNA7 [Title/Abstract] AND CHRFAM7A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHRNA7(32451856)-CHRFAM7A(30669314), # samples:1
CHRNA7(32451856)-CHRFAM7A(30665351), # 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
HgeneCHRNA7

GO:0000187

activation of MAPK activity

10771023

HgeneCHRNA7

GO:0001666

response to hypoxia

12189247

HgeneCHRNA7

GO:0006816

calcium ion transport

8145738

HgeneCHRNA7

GO:0007165

signal transduction

8906617

HgeneCHRNA7

GO:0032720

negative regulation of tumor necrosis factor production

12508119

HgeneCHRNA7

GO:0034220

ion transmembrane transport

21718690

HgeneCHRNA7

GO:0035094

response to nicotine

8145738|12189247

HgeneCHRNA7

GO:1905144

response to acetylcholine

17898229



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 CHRNA7-CHRFAM7A

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 CHRNA7-CHRFAM7A


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for CHRNA7-CHRFAM7A


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/:32451856/:30669314)
- 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
.CHRFAM7A

Q494W8

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 CHRNA7-CHRFAM7A


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 CHRNA7-CHRFAM7A


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 CHRNA7-CHRFAM7A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCHRFAM7AQ494W8DB11421ImidaclopridSmall moleculeVet_approved

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Related Diseases for CHRNA7-CHRFAM7A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHRNA7C0005586Bipolar Disorder5PSYGENET
HgeneCHRNA7C0022333Jacksonian Seizure5CTD_human
HgeneCHRNA7C0036572Seizures5CTD_human
HgeneCHRNA7C0149958Complex partial seizures5CTD_human
HgeneCHRNA7C0234533Generalized seizures5CTD_human
HgeneCHRNA7C0234535Clonic Seizures5CTD_human
HgeneCHRNA7C0270824Visual seizure5CTD_human
HgeneCHRNA7C0270844Tonic Seizures5CTD_human
HgeneCHRNA7C0270846Epileptic drop attack5CTD_human
HgeneCHRNA7C0422850Seizures, Somatosensory5CTD_human
HgeneCHRNA7C0422852Seizures, Auditory5CTD_human
HgeneCHRNA7C0422853Olfactory seizure5CTD_human
HgeneCHRNA7C0422854Gustatory seizure5CTD_human
HgeneCHRNA7C0422855Vertiginous seizure5CTD_human
HgeneCHRNA7C0494475Tonic - clonic seizures5CTD_human
HgeneCHRNA7C0751056Non-epileptic convulsion5CTD_human
HgeneCHRNA7C0751110Single Seizure5CTD_human
HgeneCHRNA7C0751123Atonic Absence Seizures5CTD_human
HgeneCHRNA7C0751494Convulsive Seizures5CTD_human
HgeneCHRNA7C0751495Seizures, Focal5CTD_human
HgeneCHRNA7C0751496Seizures, Sensory5CTD_human
HgeneCHRNA7C3495874Nonepileptic Seizures5CTD_human
HgeneCHRNA7C4048158Convulsions5CTD_human
HgeneCHRNA7C4316903Absence Seizures5CTD_human
HgeneCHRNA7C4317109Epileptic Seizures5CTD_human
HgeneCHRNA7C4317123Myoclonic Seizures5CTD_human
HgeneCHRNA7C4505436Generalized Absence Seizures5CTD_human
HgeneCHRNA7C0036341Schizophrenia4PSYGENET
HgeneCHRNA7C0002395Alzheimer's Disease1CTD_human
HgeneCHRNA7C0004310Auditory Perceptual Disorders1CTD_human
HgeneCHRNA7C0004352Autistic Disorder1CTD_human
HgeneCHRNA7C0011265Presenile dementia1CTD_human
HgeneCHRNA7C0014548Epilepsy, Generalized1CTD_human
HgeneCHRNA7C0017332Generalized Nonconvulsive Seizure Disorder1CTD_human
HgeneCHRNA7C0024121Lung Neoplasms1CTD_human
HgeneCHRNA7C0025261Memory Disorders1CTD_human
HgeneCHRNA7C0027626Neoplasm Invasiveness1CTD_human
HgeneCHRNA7C0027746Nerve Degeneration1CTD_human
HgeneCHRNA7C0028043Nicotine Dependence1CTD_human
HgeneCHRNA7C0037917Spina Bifida Cystica1CTD_human
HgeneCHRNA7C0038587Substance Withdrawal Syndrome1CTD_human
HgeneCHRNA7C0038644Sudden infant death syndrome1CTD_human
HgeneCHRNA7C0040332Tobacco Dependence1CTD_human
HgeneCHRNA7C0086189Drug Withdrawal Symptoms1CTD_human
HgeneCHRNA7C0086236Epilepsy, Atonic1CTD_human
HgeneCHRNA7C0086241Epilepsy, Tonic1CTD_human
HgeneCHRNA7C0087169Withdrawal Symptoms1CTD_human
HgeneCHRNA7C0233794Memory impairment1CTD_human
HgeneCHRNA7C0242379Malignant neoplasm of lung1CTD_human
HgeneCHRNA7C0270854Symptomatic Generalized Epilepsy1CTD_human
HgeneCHRNA7C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneCHRNA7C0311334Generalized convulsive epilepsy1CTD_human
HgeneCHRNA7C0347869Epilepsy, Akinetic1CTD_human
HgeneCHRNA7C0376384Nicotine Use Disorder1CTD_human
HgeneCHRNA7C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneCHRNA7C0525041Neurobehavioral Manifestations1CTD_human
HgeneCHRNA7C0546126Acute Confusional Senile Dementia1CTD_human
HgeneCHRNA7C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneCHRNA7C0750901Alzheimer Disease, Early Onset1CTD_human
HgeneCHRNA7C0750942Auditory Inattention1CTD_human
HgeneCHRNA7C0751292Age-Related Memory Disorders1CTD_human
HgeneCHRNA7C0751293Memory Disorder, Semantic1CTD_human
HgeneCHRNA7C0751294Memory Disorder, Spatial1CTD_human
HgeneCHRNA7C0751295Memory Loss1CTD_human
HgeneCHRNA7C0795690Congenital omphalocele1CTD_human
HgeneCHRNA7C0917813Spina Bifida, Open1CTD_human
HgeneCHRNA7C1306503Congenital exomphalos1CTD_human
HgeneCHRNA7C2677613Chromosome 15q13.3 Microdeletion Syndrome1CTD_human;ORPHANET
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0036341Schizophrenia1PSYGENET