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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:SRRT-ACHE (FusionGDB2 ID:HG51593TG43)

Fusion Gene Summary for SRRT-ACHE

check button Fusion gene summary
Fusion gene informationFusion gene name: SRRT-ACHE
Fusion gene ID: hg51593tg43
HgeneTgene
Gene symbol

SRRT

ACHE

Gene ID

51593

43

Gene nameserrate, RNA effector moleculeacetylcholinesterase (Cartwright blood group)
SynonymsARS2|ASR2|serrateACEE|ARACHE|N-ACHE|YT
Cytomap('SRRT')('ACHE')

7q22.1

7q22.1

Type of geneprotein-codingprotein-coding
Descriptionserrate RNA effector molecule homologarsenate resistance protein 2arsenate resistance protein ARS2arsenite resistance proteinarsenite-resistance protein 2acetylcholinesteraseYt blood groupacetylcholinesterase (Yt blood group)apoptosis-related acetylcholinesterase
Modification date2020031320200313
UniProtAcc.

P22303

Ensembl transtripts involved in fusion geneENST00000347433, ENST00000388793, 
ENST00000432932, ENST00000457580, 
Fusion gene scores* DoF score9 X 8 X 3=2166 X 5 X 5=150
# samples 106
** MAII scorelog2(10/216*10)=-1.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointSRRT(100487358)-ACHE(100487374), # 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
TgeneACHE

GO:0006581

acetylcholine catabolic process

1517212

TgeneACHE

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 SRRT-ACHE

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 SRRT-ACHE


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 SRRT-ACHE


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/:100487358/:100487374)
- 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: 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: 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}.

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 SRRT-ACHE


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 SRRT-ACHE


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 SRRT-ACHE


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneACHEP22303DB00411CarbamoylcholineSmall moleculeApproved
TgeneACHEP22303DB00449DipivefrinInhibitorSmall moleculeApproved
TgeneACHEP22303DB00483Gallamine triethiodideInhibitorSmall moleculeApproved
TgeneACHEP22303DB00674GalantamineInhibitorSmall moleculeApproved
TgeneACHEP22303DB00805MinaprineInhibitorSmall moleculeApproved
TgeneACHEP22303DB00843DonepezilInhibitorSmall moleculeApproved
TgeneACHEP22303DB00944DemecariumInhibitorSmall moleculeApproved
TgeneACHEP22303DB01010EdrophoniumInhibitorSmall moleculeApproved
TgeneACHEP22303DB01122AmbenoniumInhibitorSmall moleculeApproved
TgeneACHEP22303DB01199TubocurarineInhibitorSmall moleculeApproved
TgeneACHEP22303DB01245DecamethoniumInhibitorSmall moleculeApproved
TgeneACHEP22303DB13503TyrothricinInhibitorSmall moleculeApproved
TgeneACHEP22303DB04864Huperzine AInhibitorSmall moleculeApproved|Experimental
TgeneACHEP22303DB00545PyridostigmineAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneACHEP22303DB00981PhysostigmineInhibitorSmall moleculeApproved|Investigational
TgeneACHEP22303DB00989RivastigmineInhibitorSmall moleculeApproved|Investigational
TgeneACHEP22303DB03128AcetylcholineSmall moleculeApproved|Investigational
TgeneACHEP22303DB00382TacrineInhibitorSmall moleculeApproved|Investigational|Withdrawn
TgeneACHEP22303DB00677IsoflurophateInhibitorSmall moleculeApproved|Investigational|Withdrawn
TgeneACHEP22303DB00122CholineProduct ofSmall moleculeApproved|Nutraceutical
TgeneACHEP22303DB14006Choline salicylateProduct ofSmall moleculeApproved|Nutraceutical
TgeneACHEP22303DB00733PralidoximeActivatorSmall moleculeApproved|Vet_approved
TgeneACHEP22303DB01400NeostigmineInhibitorSmall moleculeApproved|Vet_approved
TgeneACHEP22303DB00863RanitidineInhibitorSmall moleculeApproved|Withdrawn

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Related Diseases for SRRT-ACHE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSRRTC0005586Bipolar Disorder1PSYGENET
HgeneSRRTC0017636Glioblastoma1CTD_human
HgeneSRRTC0041696Unipolar Depression1PSYGENET
HgeneSRRTC0334588Giant Cell Glioblastoma1CTD_human
HgeneSRRTC1269683Major Depressive Disorder1PSYGENET
HgeneSRRTC1621958Glioblastoma Multiforme1CTD_human
TgeneC0353676Organophosphorus Poisoning3CTD_human
TgeneC0700359Organophosphate poisoning3CTD_human
TgeneC3494247Organothiophosphonate Poisoning3CTD_human
TgeneC3494248Organothiophosphate Poisoning3CTD_human
TgeneC0002395Alzheimer's Disease2CTD_human
TgeneC0011265Presenile dementia2CTD_human
TgeneC0022333Jacksonian Seizure2CTD_human
TgeneC0036572Seizures2CTD_human
TgeneC0149958Complex partial seizures2CTD_human
TgeneC0234533Generalized seizures2CTD_human
TgeneC0234535Clonic Seizures2CTD_human
TgeneC0270824Visual seizure2CTD_human
TgeneC0270844Tonic Seizures2CTD_human
TgeneC0270846Epileptic drop attack2CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)2CTD_human
TgeneC0422850Seizures, Somatosensory2CTD_human
TgeneC0422852Seizures, Auditory2CTD_human
TgeneC0422853Olfactory seizure2CTD_human
TgeneC0422854Gustatory seizure2CTD_human
TgeneC0422855Vertiginous seizure2CTD_human
TgeneC0494463Alzheimer Disease, Late Onset2CTD_human
TgeneC0494475Tonic - clonic seizures2CTD_human
TgeneC0546126Acute Confusional Senile Dementia2CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset2CTD_human
TgeneC0750901Alzheimer Disease, Early Onset2CTD_human
TgeneC0751056Non-epileptic convulsion2CTD_human
TgeneC0751110Single Seizure2CTD_human
TgeneC0751123Atonic Absence Seizures2CTD_human
TgeneC0751494Convulsive Seizures2CTD_human
TgeneC0751495Seizures, Focal2CTD_human
TgeneC0751496Seizures, Sensory2CTD_human
TgeneC3495874Nonepileptic Seizures2CTD_human
TgeneC4048158Convulsions2CTD_human
TgeneC4316903Absence Seizures2CTD_human
TgeneC4317109Epileptic Seizures2CTD_human
TgeneC4317123Myoclonic Seizures2CTD_human
TgeneC4505436Generalized Absence Seizures2CTD_human
TgeneC0002726Amyloidosis1CTD_human
TgeneC0002871Anemia1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0018273Growth Disorders1CTD_human
TgeneC0023186Learning Disorders1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0025261Memory Disorders1CTD_human
TgeneC0026650Movement Disorders1CTD_human
TgeneC0026850Muscular Dystrophy1CTD_human
TgeneC0027765nervous system disorder1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0040822Tremor1CTD_human
TgeneC0040827Saturnine Tremor1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0149840Senile Tremor1CTD_human
TgeneC0233794Memory impairment1CTD_human
TgeneC0234370Persistent Tremor1CTD_human
TgeneC0234371Continuous Tremor1CTD_human
TgeneC0234372Intermittent Tremor1CTD_human
TgeneC0234373Fine Tremor1CTD_human
TgeneC0234374Coarse Tremor1CTD_human
TgeneC0234375Massive Tremor1CTD_human
TgeneC0234376Action Tremor1CTD_human
TgeneC0234377Passive Tremor1CTD_human
TgeneC0234378Static Tremor1CTD_human
TgeneC0234379Resting Tremor1CTD_human
TgeneC0234381Darkness Tremor1CTD_human
TgeneC0235078Tremor, Perioral1CTD_human
TgeneC0235081Tremor, Limb1CTD_human
TgeneC0235082Tremor, Muscle1CTD_human
TgeneC0235083Nerve Tremors1CTD_human
TgeneC0235843Tremor, Neonatal1CTD_human
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0266487Etat Marbre1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0751262Adult Learning Disorders1CTD_human
TgeneC0751263Learning Disturbance1CTD_human
TgeneC0751265Learning Disabilities1CTD_human
TgeneC0751292Age-Related Memory Disorders1CTD_human
TgeneC0751293Memory Disorder, Semantic1CTD_human
TgeneC0751294Memory Disorder, Spatial1CTD_human
TgeneC0751295Memory Loss1CTD_human
TgeneC0751564Pill Rolling Tremor1CTD_human
TgeneC0751565Tremor, Semirhythmic1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1330966Developmental Academic Disorder1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1527384Involuntary Quiver1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human