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Center for Computational Systems Medicine
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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:ACHE-MINOS1 (FusionGDB2 ID:HG43TG440574)

Fusion Gene Summary for ACHE-MINOS1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACHE-MINOS1
Fusion gene ID: hg43tg440574
HgeneTgene
Gene symbol

ACHE

MINOS1

Gene ID

43

440574

Gene nameacetylcholinesterase (Cartwright blood group)mitochondrial contact site and cristae organizing system subunit 10
SynonymsACEE|ARACHE|N-ACHE|YTC1orf151|MINOS1|MIO10|Mic10
Cytomap('ACHE')('MINOS1')

7q22.1

1p36.13

Type of geneprotein-codingprotein-coding
DescriptionacetylcholinesteraseYt blood groupacetylcholinesterase (Yt blood group)apoptosis-related acetylcholinesteraseMICOS complex subunit MIC10RP5-1056L3.2UPF0327 protein C1orf151mitochondrial inner membrane organizing system 1mitochondrial inner membrane organizing system protein 1
Modification date2020031320200327
UniProtAcc

P22303

.
Ensembl transtripts involved in fusion geneENST00000241069, ENST00000302913, 
ENST00000412389, ENST00000419336, 
ENST00000428317, ENST00000411582, 
ENST00000497647, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 2=32
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACHE [Title/Abstract] AND MINOS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACHE(100487618)-MINOS1(19822480), # 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
HgeneACHE

GO:0006581

acetylcholine catabolic process

1517212

HgeneACHE

GO:0007155

cell adhesion

15454088



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 ACHE-MINOS1

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 ACHE-MINOS1


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 ACHE-MINOS1


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/:100487618/:19822480)
- 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
ACHE

P22303

.
FUNCTION: Terminates signal transduction at the neuromuscular junction by rapid hydrolysis of the acetylcholine released into the synaptic cleft. Role in neuronal apoptosis. {ECO:0000269|PubMed:11985878, ECO:0000269|PubMed:1517212, ECO:0000269|PubMed:1748670, ECO:0000269|PubMed:2714437}.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 ACHE-MINOS1


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 ACHE-MINOS1


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 ACHE-MINOS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneACHEP22303DB00411CarbamoylcholineSmall moleculeApproved
HgeneACHEP22303DB00449DipivefrinInhibitorSmall moleculeApproved
HgeneACHEP22303DB00483Gallamine triethiodideInhibitorSmall moleculeApproved
HgeneACHEP22303DB00674GalantamineInhibitorSmall moleculeApproved
HgeneACHEP22303DB00805MinaprineInhibitorSmall moleculeApproved
HgeneACHEP22303DB00843DonepezilInhibitorSmall moleculeApproved
HgeneACHEP22303DB00944DemecariumInhibitorSmall moleculeApproved
HgeneACHEP22303DB01010EdrophoniumInhibitorSmall moleculeApproved
HgeneACHEP22303DB01122AmbenoniumInhibitorSmall moleculeApproved
HgeneACHEP22303DB01199TubocurarineInhibitorSmall moleculeApproved
HgeneACHEP22303DB01245DecamethoniumInhibitorSmall moleculeApproved
HgeneACHEP22303DB13503TyrothricinInhibitorSmall moleculeApproved
HgeneACHEP22303DB04864Huperzine AInhibitorSmall moleculeApproved|Experimental
HgeneACHEP22303DB00545PyridostigmineAntagonist|InhibitorSmall moleculeApproved|Investigational
HgeneACHEP22303DB00981PhysostigmineInhibitorSmall moleculeApproved|Investigational
HgeneACHEP22303DB00989RivastigmineInhibitorSmall moleculeApproved|Investigational
HgeneACHEP22303DB03128AcetylcholineSmall moleculeApproved|Investigational
HgeneACHEP22303DB00382TacrineInhibitorSmall moleculeApproved|Investigational|Withdrawn
HgeneACHEP22303DB00677IsoflurophateInhibitorSmall moleculeApproved|Investigational|Withdrawn
HgeneACHEP22303DB00122CholineProduct ofSmall moleculeApproved|Nutraceutical
HgeneACHEP22303DB14006Choline salicylateProduct ofSmall moleculeApproved|Nutraceutical
HgeneACHEP22303DB00733PralidoximeActivatorSmall moleculeApproved|Vet_approved
HgeneACHEP22303DB01400NeostigmineInhibitorSmall moleculeApproved|Vet_approved
HgeneACHEP22303DB00863RanitidineInhibitorSmall moleculeApproved|Withdrawn

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Related Diseases for ACHE-MINOS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACHEC0353676Organophosphorus Poisoning3CTD_human
HgeneACHEC0700359Organophosphate poisoning3CTD_human
HgeneACHEC3494247Organothiophosphonate Poisoning3CTD_human
HgeneACHEC3494248Organothiophosphate Poisoning3CTD_human
HgeneACHEC0002395Alzheimer's Disease2CTD_human
HgeneACHEC0011265Presenile dementia2CTD_human
HgeneACHEC0022333Jacksonian Seizure2CTD_human
HgeneACHEC0036572Seizures2CTD_human
HgeneACHEC0149958Complex partial seizures2CTD_human
HgeneACHEC0234533Generalized seizures2CTD_human
HgeneACHEC0234535Clonic Seizures2CTD_human
HgeneACHEC0270824Visual seizure2CTD_human
HgeneACHEC0270844Tonic Seizures2CTD_human
HgeneACHEC0270846Epileptic drop attack2CTD_human
HgeneACHEC0276496Familial Alzheimer Disease (FAD)2CTD_human
HgeneACHEC0422850Seizures, Somatosensory2CTD_human
HgeneACHEC0422852Seizures, Auditory2CTD_human
HgeneACHEC0422853Olfactory seizure2CTD_human
HgeneACHEC0422854Gustatory seizure2CTD_human
HgeneACHEC0422855Vertiginous seizure2CTD_human
HgeneACHEC0494463Alzheimer Disease, Late Onset2CTD_human
HgeneACHEC0494475Tonic - clonic seizures2CTD_human
HgeneACHEC0546126Acute Confusional Senile Dementia2CTD_human
HgeneACHEC0750900Alzheimer's Disease, Focal Onset2CTD_human
HgeneACHEC0750901Alzheimer Disease, Early Onset2CTD_human
HgeneACHEC0751056Non-epileptic convulsion2CTD_human
HgeneACHEC0751110Single Seizure2CTD_human
HgeneACHEC0751123Atonic Absence Seizures2CTD_human
HgeneACHEC0751494Convulsive Seizures2CTD_human
HgeneACHEC0751495Seizures, Focal2CTD_human
HgeneACHEC0751496Seizures, Sensory2CTD_human
HgeneACHEC3495874Nonepileptic Seizures2CTD_human
HgeneACHEC4048158Convulsions2CTD_human
HgeneACHEC4316903Absence Seizures2CTD_human
HgeneACHEC4317109Epileptic Seizures2CTD_human
HgeneACHEC4317123Myoclonic Seizures2CTD_human
HgeneACHEC4505436Generalized Absence Seizures2CTD_human
HgeneACHEC0002726Amyloidosis1CTD_human
HgeneACHEC0002871Anemia1CTD_human
HgeneACHEC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneACHEC0005695Bladder Neoplasm1CTD_human
HgeneACHEC0006142Malignant neoplasm of breast1CTD_human
HgeneACHEC0007134Renal Cell Carcinoma1CTD_human
HgeneACHEC0013221Drug toxicity1CTD_human
HgeneACHEC0018273Growth Disorders1CTD_human
HgeneACHEC0023186Learning Disorders1CTD_human
HgeneACHEC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneACHEC0025261Memory Disorders1CTD_human
HgeneACHEC0026650Movement Disorders1CTD_human
HgeneACHEC0026850Muscular Dystrophy1CTD_human
HgeneACHEC0027765nervous system disorder1CTD_human
HgeneACHEC0028754Obesity1CTD_human
HgeneACHEC0033578Prostatic Neoplasms1CTD_human
HgeneACHEC0036341Schizophrenia1PSYGENET
HgeneACHEC0040822Tremor1CTD_human
HgeneACHEC0040827Saturnine Tremor1CTD_human
HgeneACHEC0041755Adverse reaction to drug1CTD_human
HgeneACHEC0149840Senile Tremor1CTD_human
HgeneACHEC0233794Memory impairment1CTD_human
HgeneACHEC0234370Persistent Tremor1CTD_human
HgeneACHEC0234371Continuous Tremor1CTD_human
HgeneACHEC0234372Intermittent Tremor1CTD_human
HgeneACHEC0234373Fine Tremor1CTD_human
HgeneACHEC0234374Coarse Tremor1CTD_human
HgeneACHEC0234375Massive Tremor1CTD_human
HgeneACHEC0234376Action Tremor1CTD_human
HgeneACHEC0234377Passive Tremor1CTD_human
HgeneACHEC0234378Static Tremor1CTD_human
HgeneACHEC0234379Resting Tremor1CTD_human
HgeneACHEC0234381Darkness Tremor1CTD_human
HgeneACHEC0235078Tremor, Perioral1CTD_human
HgeneACHEC0235081Tremor, Limb1CTD_human
HgeneACHEC0235082Tremor, Muscle1CTD_human
HgeneACHEC0235083Nerve Tremors1CTD_human
HgeneACHEC0235843Tremor, Neonatal1CTD_human
HgeneACHEC0236733Amphetamine-Related Disorders1CTD_human
HgeneACHEC0236804Amphetamine Addiction1CTD_human
HgeneACHEC0236807Amphetamine Abuse1CTD_human
HgeneACHEC0266487Etat Marbre1CTD_human
HgeneACHEC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneACHEC0376358Malignant neoplasm of prostate1CTD_human
HgeneACHEC0678222Breast Carcinoma1CTD_human
HgeneACHEC0751262Adult Learning Disorders1CTD_human
HgeneACHEC0751263Learning Disturbance1CTD_human
HgeneACHEC0751265Learning Disabilities1CTD_human
HgeneACHEC0751292Age-Related Memory Disorders1CTD_human
HgeneACHEC0751293Memory Disorder, Semantic1CTD_human
HgeneACHEC0751294Memory Disorder, Spatial1CTD_human
HgeneACHEC0751295Memory Loss1CTD_human
HgeneACHEC0751564Pill Rolling Tremor1CTD_human
HgeneACHEC0751565Tremor, Semirhythmic1CTD_human
HgeneACHEC1257931Mammary Neoplasms, Human1CTD_human
HgeneACHEC1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneACHEC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneACHEC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneACHEC1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneACHEC1330966Developmental Academic Disorder1CTD_human
HgeneACHEC1458155Mammary Neoplasms1CTD_human
HgeneACHEC1527384Involuntary Quiver1CTD_human
HgeneACHEC4704874Mammary Carcinoma, Human1CTD_human