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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:BCHE-SLC35E3 (FusionGDB2 ID:9374)

Fusion Gene Summary for BCHE-SLC35E3

check button Fusion gene summary
Fusion gene informationFusion gene name: BCHE-SLC35E3
Fusion gene ID: 9374
HgeneTgene
Gene symbol

BCHE

SLC35E3

Gene ID

590

55508

Gene namebutyrylcholinesterasesolute carrier family 35 member E3
SynonymsBCHED|CHE1|CHE2|E1BLOV1
Cytomap

3q26.1

12q15

Type of geneprotein-codingprotein-coding
Descriptioncholinesteraseacylcholine acylhydrolasebutyrylcholine esterasecholine esterase IIcholinesterase (serum) 2cholinesterase 1pseudocholinesterasesolute carrier family 35 member E3bladder cancer-overexpressed gene 1 proteinsolute carrier family 35, member E2
Modification date2020031320200313
UniProtAcc

P06276

.
Ensembl transtripts involved in fusion geneENST00000264381, ENST00000540653, 
ENST00000398004, ENST00000538043, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 5 X 5=175
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCHE [Title/Abstract] AND SLC35E3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCHE(165490697)-SLC35E3(69140400), # samples:1
Anticipated loss of major functional domain due to fusion event.BCHE-SLC35E3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BCHE-SLC35E3 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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

check buttonFusion gene breakpoints across BCHE (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SLC35E3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/ABP379106BCHEchr3

165490697

-SLC35E3chr12

69140400

+


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Fusion Gene ORF analysis for BCHE-SLC35E3

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
Frame-shiftENST00000264381ENST00000398004BCHEchr3

165490697

-SLC35E3chr12

69140400

+
5CDS-intronENST00000264381ENST00000538043BCHEchr3

165490697

-SLC35E3chr12

69140400

+
intron-3CDSENST00000540653ENST00000398004BCHEchr3

165490697

-SLC35E3chr12

69140400

+
intron-intronENST00000540653ENST00000538043BCHEchr3

165490697

-SLC35E3chr12

69140400

+

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 BCHE-SLC35E3


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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for BCHE-SLC35E3


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCHE

P06276

.
FUNCTION: Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters. {ECO:0000269|PubMed:19452557, ECO:0000269|PubMed:19542320}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 BCHE-SLC35E3


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 BCHE-SLC35E3


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 BCHE-SLC35E3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBCHEP06276DB00449DipivefrinSubstrateSmall moleculeApproved
HgeneBCHEP06276DB00449DipivefrinSubstrateSmall moleculeApproved
HgeneBCHEP06276DB00674GalantamineInhibitorSmall moleculeApproved
HgeneBCHEP06276DB00674GalantamineInhibitorSmall moleculeApproved
HgeneBCHEP06276DB00843DonepezilInducerSmall moleculeApproved
HgeneBCHEP06276DB00843DonepezilInducerSmall moleculeApproved
HgeneBCHEP06276DB00941HexafluroniumInhibitorSmall moleculeApproved
HgeneBCHEP06276DB00941HexafluroniumInhibitorSmall moleculeApproved
HgeneBCHEP06276DB00944DemecariumInhibitorSmall moleculeApproved
HgeneBCHEP06276DB00944DemecariumInhibitorSmall moleculeApproved
HgeneBCHEP06276DB01010EdrophoniumInhibitorSmall moleculeApproved
HgeneBCHEP06276DB01010EdrophoniumInhibitorSmall moleculeApproved
HgeneBCHEP06276DB01057EchothiophateInhibitorSmall moleculeApproved
HgeneBCHEP06276DB01057EchothiophateInhibitorSmall moleculeApproved
HgeneBCHEP06276DB01226MivacuriumSmall moleculeApproved
HgeneBCHEP06276DB01226MivacuriumSmall moleculeApproved
HgeneBCHEP06276DB00545PyridostigmineAntagonistSmall moleculeApproved|Investigational
HgeneBCHEP06276DB00545PyridostigmineAntagonistSmall moleculeApproved|Investigational
HgeneBCHEP06276DB00772MalathionInhibitorSmall moleculeApproved|Investigational
HgeneBCHEP06276DB00772MalathionInhibitorSmall moleculeApproved|Investigational
HgeneBCHEP06276DB00989RivastigmineInhibitorSmall moleculeApproved|Investigational
HgeneBCHEP06276DB00989RivastigmineInhibitorSmall moleculeApproved|Investigational
HgeneBCHEP06276DB00382TacrineInhibitorSmall moleculeApproved|Investigational|Withdrawn
HgeneBCHEP06276DB00382TacrineInhibitorSmall moleculeApproved|Investigational|Withdrawn
HgeneBCHEP06276DB00677IsoflurophateInhibitorSmall moleculeApproved|Investigational|Withdrawn
HgeneBCHEP06276DB00677IsoflurophateInhibitorSmall moleculeApproved|Investigational|Withdrawn
HgeneBCHEP06276DB00122CholineProduct ofSmall moleculeApproved|Nutraceutical
HgeneBCHEP06276DB00122CholineProduct ofSmall moleculeApproved|Nutraceutical
HgeneBCHEP06276DB14006Choline salicylateProduct ofSmall moleculeApproved|Nutraceutical
HgeneBCHEP06276DB14006Choline salicylateProduct ofSmall moleculeApproved|Nutraceutical
HgeneBCHEP06276DB00733PralidoximeActivatorSmall moleculeApproved|Vet_approved
HgeneBCHEP06276DB00733PralidoximeActivatorSmall moleculeApproved|Vet_approved
HgeneBCHEP06276DB01221KetamineInhibitorSmall moleculeApproved|Vet_approved
HgeneBCHEP06276DB01221KetamineInhibitorSmall moleculeApproved|Vet_approved
HgeneBCHEP06276DB11397DichlorvosSmall moleculeVet_approved
HgeneBCHEP06276DB11397DichlorvosSmall moleculeVet_approved

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Related Diseases for BCHE-SLC35E3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCHEC0003578Apnea31CTD_human
HgeneBCHEC1283400Butyrylcholinesterase deficiency25CTD_human;ORPHANET;UNIPROT
HgeneBCHEC0234544Todd Paralysis10CTD_human
HgeneBCHEC0522224Paralysed10CTD_human
HgeneBCHEC0009171Cocaine Abuse8CTD_human
HgeneBCHEC0236736Cocaine-Related Disorders8CTD_human
HgeneBCHEC0353676Organophosphorus Poisoning8CTD_human
HgeneBCHEC0600427Cocaine Dependence8CTD_human
HgeneBCHEC0700359Organophosphate poisoning8CTD_human
HgeneBCHEC3494247Organothiophosphonate Poisoning8CTD_human
HgeneBCHEC3494248Organothiophosphate Poisoning8CTD_human
HgeneBCHEC0268379Pseudocholinesterase deficiency5CTD_human
HgeneBCHEC1622434Suxamethonium sensitivity5CTD_human
HgeneBCHEC1867468Apnea, Postanesthetic5CTD_human
HgeneBCHEC0028754Obesity4CTD_human
HgeneBCHEC0022333Jacksonian Seizure3CTD_human
HgeneBCHEC0036572Seizures3CTD_human
HgeneBCHEC0149958Complex partial seizures3CTD_human
HgeneBCHEC0234533Generalized seizures3CTD_human
HgeneBCHEC0234535Clonic Seizures3CTD_human
HgeneBCHEC0270824Visual seizure3CTD_human
HgeneBCHEC0270844Tonic Seizures3CTD_human
HgeneBCHEC0270846Epileptic drop attack3CTD_human
HgeneBCHEC0422850Seizures, Somatosensory3CTD_human
HgeneBCHEC0422852Seizures, Auditory3CTD_human
HgeneBCHEC0422853Olfactory seizure3CTD_human
HgeneBCHEC0422854Gustatory seizure3CTD_human
HgeneBCHEC0422855Vertiginous seizure3CTD_human
HgeneBCHEC0494475Tonic - clonic seizures3CTD_human
HgeneBCHEC0751056Non-epileptic convulsion3CTD_human
HgeneBCHEC0751110Single Seizure3CTD_human
HgeneBCHEC0751123Atonic Absence Seizures3CTD_human
HgeneBCHEC0751494Convulsive Seizures3CTD_human
HgeneBCHEC0751495Seizures, Focal3CTD_human
HgeneBCHEC0751496Seizures, Sensory3CTD_human
HgeneBCHEC3495874Nonepileptic Seizures3CTD_human
HgeneBCHEC4048158Convulsions3CTD_human
HgeneBCHEC4316903Absence Seizures3CTD_human
HgeneBCHEC4317109Epileptic Seizures3CTD_human
HgeneBCHEC4317123Myoclonic Seizures3CTD_human
HgeneBCHEC4505436Generalized Absence Seizures3CTD_human
HgeneBCHEC0009241Cognition Disorders2CTD_human
HgeneBCHEC0001969Alcoholic Intoxication1PSYGENET
HgeneBCHEC0002395Alzheimer's Disease1CTD_human
HgeneBCHEC0005586Bipolar Disorder1PSYGENET
HgeneBCHEC0006142Malignant neoplasm of breast1CTD_human
HgeneBCHEC0007134Renal Cell Carcinoma1CTD_human
HgeneBCHEC0011265Presenile dementia1CTD_human
HgeneBCHEC0013221Drug toxicity1CTD_human
HgeneBCHEC0014549Tonic-Clonic Epilepsy1CTD_human
HgeneBCHEC0015644Muscular fasciculation1CTD_human
HgeneBCHEC0017636Glioblastoma1CTD_human
HgeneBCHEC0018989Hemiparesis1CTD_human
HgeneBCHEC0020529Hypersomnia with Periodic Respiration1CTD_human
HgeneBCHEC0020557Hypertriglyceridemia1CTD_human
HgeneBCHEC0026769Multiple Sclerosis1CTD_human
HgeneBCHEC0026850Muscular Dystrophy1CTD_human
HgeneBCHEC0027819Neuroblastoma1CTD_human
HgeneBCHEC0030552Paresis1CTD_human
HgeneBCHEC0030569Secondary Parkinson Disease1CTD_human
HgeneBCHEC0032787Postoperative Complications1CTD_human
HgeneBCHEC0037315Sleep Apnea Syndromes1CTD_human
HgeneBCHEC0039231Tachycardia1CTD_human
HgeneBCHEC0041105Trismus1CTD_human
HgeneBCHEC0041755Adverse reaction to drug1CTD_human
HgeneBCHEC0079221Determination of Death1CTD_human
HgeneBCHEC0080203Tachyarrhythmia1CTD_human
HgeneBCHEC0149504Encephalopathy, Toxic1CTD_human
HgeneBCHEC0154659Toxic Encephalitis1CTD_human
HgeneBCHEC0235032Neurotoxicity Syndromes1CTD_human
HgeneBCHEC0239548Fasciculation, Tongue1CTD_human
HgeneBCHEC0240302Masseter Muscle Spasm1CTD_human
HgeneBCHEC0270795Monoparesis1CTD_human
HgeneBCHEC0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneBCHEC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneBCHEC0334588Giant Cell Glioblastoma1CTD_human
HgeneBCHEC0338495Sleep Apnea, Mixed Central and Obstructive1CTD_human
HgeneBCHEC0343495Lockjaw1CTD_human
HgeneBCHEC0376297Cardiac Death1CTD_human
HgeneBCHEC0494463Alzheimer Disease, Late Onset1CTD_human
HgeneBCHEC0541957Fasciculation, Skeletal Muscle1CTD_human
HgeneBCHEC0546126Acute Confusional Senile Dementia1CTD_human
HgeneBCHEC0678222Breast Carcinoma1CTD_human
HgeneBCHEC0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneBCHEC0750901Alzheimer Disease, Early Onset1CTD_human
HgeneBCHEC0751117Cryptogenic Tonic-Clonic Epilepsy1CTD_human
HgeneBCHEC0751118Epilepsy, Tonic-Clonic, Familial1CTD_human
HgeneBCHEC0751119Epilepsy, Tonic-Clonic, Symptomatic1CTD_human
HgeneBCHEC0751144Fasciculation, Benign1CTD_human
HgeneBCHEC0751217Hyperkinesia, Generalized1CTD_human
HgeneBCHEC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
HgeneBCHEC0751409Upper Extremity Paresis1CTD_human
HgeneBCHEC0751410Lower Extremity Paresis1CTD_human
HgeneBCHEC0751414Parkinson Disease, Secondary Vascular1CTD_human
HgeneBCHEC0751415Atherosclerotic Parkinsonism1CTD_human
HgeneBCHEC0876994Cardiotoxicity1CTD_human
HgeneBCHEC1257931Mammary Neoplasms, Human1CTD_human
HgeneBCHEC1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneBCHEC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneBCHEC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneBCHEC1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneBCHEC1458155Mammary Neoplasms1CTD_human
HgeneBCHEC1621958Glioblastoma Multiforme1CTD_human
HgeneBCHEC1855794Bamforth syndrome1CTD_human
HgeneBCHEC1968699Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate1CTD_human
HgeneBCHEC3887506Hyperkinesia1CTD_human
HgeneBCHEC4551689Sleep-Disordered Breathing1CTD_human
HgeneBCHEC4704874Mammary Carcinoma, Human1CTD_human