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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:ZC3H12B-BCHE (FusionGDB2 ID:HG340554TG590)

Fusion Gene Summary for ZC3H12B-BCHE

check button Fusion gene summary
Fusion gene informationFusion gene name: ZC3H12B-BCHE
Fusion gene ID: hg340554tg590
HgeneTgene
Gene symbol

ZC3H12B

BCHE

Gene ID

340554

590

Gene namezinc finger CCCH-type containing 12Bbutyrylcholinesterase
SynonymsCXorf32|MCPIP2BCHED|CHE1|CHE2|E1
Cytomap('ZC3H12B')('BCHE')

Xq11.2-q12

3q26.1

Type of geneprotein-codingprotein-coding
Descriptionprobable ribonuclease ZC3H12BMCP-induced protein 2zinc finger CCCH domain-containing protein 12Bcholinesteraseacylcholine acylhydrolasebutyrylcholine esterasecholine esterase IIcholinesterase (serum) 2cholinesterase 1pseudocholinesterase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000338957, ENST00000423889, 
Fusion gene scores* DoF score2 X 2 X 1=42 X 2 X 2=8
# samples 22
** MAII scorelog2(2/4*10)=2.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: ZC3H12B [Title/Abstract] AND BCHE [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZC3H12B(64110333)-BCHE(165543208), # 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


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/ACA433230ZC3H12BchrX

64110333

-BCHEchr3

165543208

+


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Fusion Gene ORF analysis for ZC3H12B-BCHE

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
intron-intronENST00000338957ENST00000264381ZC3H12BchrX

64110333

-BCHEchr3

165543208

+
intron-intronENST00000338957ENST00000540653ZC3H12BchrX

64110333

-BCHEchr3

165543208

+
intron-intronENST00000423889ENST00000264381ZC3H12BchrX

64110333

-BCHEchr3

165543208

+
intron-intronENST00000423889ENST00000540653ZC3H12BchrX

64110333

-BCHEchr3

165543208

+

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 ZC3H12B-BCHE


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 ZC3H12B-BCHE


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/:64110333/:165543208)
- 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
..
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: 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 ZC3H12B-BCHE


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 ZC3H12B-BCHE


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 ZC3H12B-BCHE


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

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Related Diseases for ZC3H12B-BCHE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0003578Apnea31CTD_human
TgeneC1283400Butyrylcholinesterase deficiency25CTD_human;ORPHANET;UNIPROT
TgeneC0234544Todd Paralysis10CTD_human
TgeneC0522224Paralysed10CTD_human
TgeneC0009171Cocaine Abuse8CTD_human
TgeneC0236736Cocaine-Related Disorders8CTD_human
TgeneC0353676Organophosphorus Poisoning8CTD_human
TgeneC0600427Cocaine Dependence8CTD_human
TgeneC0700359Organophosphate poisoning8CTD_human
TgeneC3494247Organothiophosphonate Poisoning8CTD_human
TgeneC3494248Organothiophosphate Poisoning8CTD_human
TgeneC0268379Pseudocholinesterase deficiency5CTD_human
TgeneC1622434Suxamethonium sensitivity5CTD_human
TgeneC1867468Apnea, Postanesthetic5CTD_human
TgeneC0028754Obesity4CTD_human
TgeneC0022333Jacksonian Seizure3CTD_human
TgeneC0036572Seizures3CTD_human
TgeneC0149958Complex partial seizures3CTD_human
TgeneC0234533Generalized seizures3CTD_human
TgeneC0234535Clonic Seizures3CTD_human
TgeneC0270824Visual seizure3CTD_human
TgeneC0270844Tonic Seizures3CTD_human
TgeneC0270846Epileptic drop attack3CTD_human
TgeneC0422850Seizures, Somatosensory3CTD_human
TgeneC0422852Seizures, Auditory3CTD_human
TgeneC0422853Olfactory seizure3CTD_human
TgeneC0422854Gustatory seizure3CTD_human
TgeneC0422855Vertiginous seizure3CTD_human
TgeneC0494475Tonic - clonic seizures3CTD_human
TgeneC0751056Non-epileptic convulsion3CTD_human
TgeneC0751110Single Seizure3CTD_human
TgeneC0751123Atonic Absence Seizures3CTD_human
TgeneC0751494Convulsive Seizures3CTD_human
TgeneC0751495Seizures, Focal3CTD_human
TgeneC0751496Seizures, Sensory3CTD_human
TgeneC3495874Nonepileptic Seizures3CTD_human
TgeneC4048158Convulsions3CTD_human
TgeneC4316903Absence Seizures3CTD_human
TgeneC4317109Epileptic Seizures3CTD_human
TgeneC4317123Myoclonic Seizures3CTD_human
TgeneC4505436Generalized Absence Seizures3CTD_human
TgeneC0009241Cognition Disorders2CTD_human
TgeneC0001969Alcoholic Intoxication1PSYGENET
TgeneC0002395Alzheimer's Disease1CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0011265Presenile dementia1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0014549Tonic-Clonic Epilepsy1CTD_human
TgeneC0015644Muscular fasciculation1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0018989Hemiparesis1CTD_human
TgeneC0020529Hypersomnia with Periodic Respiration1CTD_human
TgeneC0020557Hypertriglyceridemia1CTD_human
TgeneC0026769Multiple Sclerosis1CTD_human
TgeneC0026850Muscular Dystrophy1CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0030552Paresis1CTD_human
TgeneC0030569Secondary Parkinson Disease1CTD_human
TgeneC0032787Postoperative Complications1CTD_human
TgeneC0037315Sleep Apnea Syndromes1CTD_human
TgeneC0039231Tachycardia1CTD_human
TgeneC0041105Trismus1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0079221Determination of Death1CTD_human
TgeneC0080203Tachyarrhythmia1CTD_human
TgeneC0149504Encephalopathy, Toxic1CTD_human
TgeneC0154659Toxic Encephalitis1CTD_human
TgeneC0235032Neurotoxicity Syndromes1CTD_human
TgeneC0239548Fasciculation, Tongue1CTD_human
TgeneC0240302Masseter Muscle Spasm1CTD_human
TgeneC0270795Monoparesis1CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0338495Sleep Apnea, Mixed Central and Obstructive1CTD_human
TgeneC0343495Lockjaw1CTD_human
TgeneC0376297Cardiac Death1CTD_human
TgeneC0494463Alzheimer Disease, Late Onset1CTD_human
TgeneC0541957Fasciculation, Skeletal Muscle1CTD_human
TgeneC0546126Acute Confusional Senile Dementia1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneC0750901Alzheimer Disease, Early Onset1CTD_human
TgeneC0751117Cryptogenic Tonic-Clonic Epilepsy1CTD_human
TgeneC0751118Epilepsy, Tonic-Clonic, Familial1CTD_human
TgeneC0751119Epilepsy, Tonic-Clonic, Symptomatic1CTD_human
TgeneC0751144Fasciculation, Benign1CTD_human
TgeneC0751217Hyperkinesia, Generalized1CTD_human
TgeneC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
TgeneC0751409Upper Extremity Paresis1CTD_human
TgeneC0751410Lower Extremity Paresis1CTD_human
TgeneC0751414Parkinson Disease, Secondary Vascular1CTD_human
TgeneC0751415Atherosclerotic Parkinsonism1CTD_human
TgeneC0876994Cardiotoxicity1CTD_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
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC1855794Bamforth syndrome1CTD_human
TgeneC1968699Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate1CTD_human
TgeneC3887506Hyperkinesia1CTD_human
TgeneC4551689Sleep-Disordered Breathing1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human