Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ACAT1-NCOR1 (FusionGDB2 ID:HG38TG9611)

Fusion Gene Summary for ACAT1-NCOR1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACAT1-NCOR1
Fusion gene ID: hg38tg9611
HgeneTgene
Gene symbol

ACAT1

NCOR1

Gene ID

38

9611

Gene nameacetyl-CoA acetyltransferase 1nuclear receptor corepressor 1
SynonymsACAT|MAT|T2|THILN-CoR|N-CoR1|PPP1R109|TRAC1|hN-CoR
Cytomap('ACAT1')('NCOR1')

11q22.3

17p12-p11.2

Type of geneprotein-codingprotein-coding
Descriptionacetyl-CoA acetyltransferase, mitochondrialacetoacetyl Coenzyme A thiolaseacetoacetyl-CoA thiolaseacetyl-Coenzyme A acetyltransferase 1mitochondrial acetoacetyl-CoA thiolasetesticular tissue protein Li 198nuclear receptor corepressor 1protein phosphatase 1, regulatory subunit 109thyroid hormone- and retinoic acid receptor-associated corepressor 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000265838, ENST00000299355, 
ENST00000526119, 
Fusion gene scores* DoF score3 X 3 X 1=914 X 14 X 6=1176
# samples 314
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(14/1176*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACAT1 [Title/Abstract] AND NCOR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACAT1(108018315)-NCOR1(16056682), # 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
HgeneACAT1

GO:0006085

acetyl-CoA biosynthetic process

17371050

HgeneACAT1

GO:0015936

coenzyme A metabolic process

17371050

HgeneACAT1

GO:0015937

coenzyme A biosynthetic process

17371050

HgeneACAT1

GO:0046356

acetyl-CoA catabolic process

17371050

HgeneACAT1

GO:1902860

propionyl-CoA biosynthetic process

17371050

TgeneNCOR1

GO:0046329

negative regulation of JNK cascade

11931768



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


Top

Fusion Gene ORF analysis for ACAT1-NCOR1

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

Top

Fusion Genomic Features for ACAT1-NCOR1


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)


Top

Fusion Protein Features for ACAT1-NCOR1


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/:108018315/:16056682)
- 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


Top

Fusion Gene Sequence for ACAT1-NCOR1


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.

Top

Fusion Gene PPI Analysis for ACAT1-NCOR1


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


Top

Related Drugs for ACAT1-NCOR1


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

Top

Related Diseases for ACAT1-NCOR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACAT1C1536500Deficiency of acetyl-CoA acetyltransferase12CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACAT1C0022333Jacksonian Seizure1CTD_human
HgeneACAT1C0022661Kidney Failure, Chronic1CTD_human
HgeneACAT1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneACAT1C0036572Seizures1CTD_human
HgeneACAT1C0149958Complex partial seizures1CTD_human
HgeneACAT1C0234533Generalized seizures1CTD_human
HgeneACAT1C0234535Clonic Seizures1CTD_human
HgeneACAT1C0270824Visual seizure1CTD_human
HgeneACAT1C0270844Tonic Seizures1CTD_human
HgeneACAT1C0270846Epileptic drop attack1CTD_human
HgeneACAT1C0422850Seizures, Somatosensory1CTD_human
HgeneACAT1C0422852Seizures, Auditory1CTD_human
HgeneACAT1C0422853Olfactory seizure1CTD_human
HgeneACAT1C0422854Gustatory seizure1CTD_human
HgeneACAT1C0422855Vertiginous seizure1CTD_human
HgeneACAT1C0494475Tonic - clonic seizures1CTD_human
HgeneACAT1C0751056Non-epileptic convulsion1CTD_human
HgeneACAT1C0751110Single Seizure1CTD_human
HgeneACAT1C0751123Atonic Absence Seizures1CTD_human
HgeneACAT1C0751494Convulsive Seizures1CTD_human
HgeneACAT1C0751495Seizures, Focal1CTD_human
HgeneACAT1C0751496Seizures, Sensory1CTD_human
HgeneACAT1C3495874Nonepileptic Seizures1CTD_human
HgeneACAT1C4048158Convulsions1CTD_human
HgeneACAT1C4316903Absence Seizures1CTD_human
HgeneACAT1C4317109Epileptic Seizures1CTD_human
HgeneACAT1C4317123Myoclonic Seizures1CTD_human
HgeneACAT1C4505436Generalized Absence Seizures1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0006142Malignant neoplasm of breast1CGI;CTD_human
TgeneC0007138Carcinoma, Transitional Cell1CTD_human
TgeneC0014175Endometriosis1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0678222Breast Carcinoma1CGI;CTD_human
TgeneC0857007Hyperbilirubinemia, Neonatal1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1565885Direct Hyperbilirubinemia, Neonatal1CTD_human
TgeneC1565886Indirect Hyperbilirubinemia, Neonatal1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human