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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:ARNT-ASTN2 (FusionGDB2 ID:HG405TG23245)

Fusion Gene Summary for ARNT-ASTN2

check button Fusion gene summary
Fusion gene informationFusion gene name: ARNT-ASTN2
Fusion gene ID: hg405tg23245
HgeneTgene
Gene symbol

ARNT

ASTN2

Gene ID

405

23245

Gene namearyl hydrocarbon receptor nuclear translocatorastrotactin 2
SynonymsHIF-1-beta|HIF-1beta|HIF1-beta|HIF1B|HIF1BETA|TANGO|bHLHe2bA67K19.1
Cytomap('ARNT')('ASTN2')

1q21.3

9q33.1

Type of geneprotein-codingprotein-coding
Descriptionaryl hydrocarbon receptor nuclear translocatorclass E basic helix-loop-helix protein 2dioxin receptor, nuclear translocatorhypoxia-inducible factor 1, beta subunitastrotactin-2
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000354396, ENST00000358595, 
ENST00000468970, ENST00000505755, 
ENST00000515192, 
Fusion gene scores* DoF score18 X 16 X 9=259220 X 19 X 8=3040
# samples 1825
** MAII scorelog2(18/2592*10)=-3.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(25/3040*10)=-3.60407132366886
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARNT [Title/Abstract] AND ASTN2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARNT(150792629)-ASTN2(119852478), # 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
HgeneARNT

GO:0001666

response to hypoxia

8756616

HgeneARNT

GO:0010575

positive regulation of vascular endothelial growth factor production

8756616

HgeneARNT

GO:0043619

regulation of transcription from RNA polymerase II promoter in response to oxidative stress

8089148

HgeneARNT

GO:0045893

positive regulation of transcription, DNA-templated

8089148

HgeneARNT

GO:0046886

positive regulation of hormone biosynthetic process

1448077



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 ARNT-ASTN2

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 ARNT-ASTN2


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 ARNT-ASTN2


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/:150792629/:119852478)
- 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 ARNT-ASTN2


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 ARNT-ASTN2


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 ARNT-ASTN2


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 ARNT-ASTN2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARNTC0000786Spontaneous abortion1CTD_human
HgeneARNTC0000822Abortion, Tubal1CTD_human
HgeneARNTC0009402Colorectal Carcinoma1CTD_human
HgeneARNTC0009404Colorectal Neoplasms1CTD_human
HgeneARNTC0014175Endometriosis1CTD_human
HgeneARNTC0019193Hepatitis, Toxic1CTD_human
HgeneARNTC0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneARNTC0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneARNTC0023890Liver Cirrhosis1CTD_human
HgeneARNTC0025202melanoma1CTD_human
HgeneARNTC0027659Neoplasms, Experimental1CTD_human
HgeneARNTC0239946Fibrosis, Liver1CTD_human
HgeneARNTC0269102Endometrioma1CTD_human
HgeneARNTC0860207Drug-Induced Liver Disease1CTD_human
HgeneARNTC1262760Hepatitis, Drug-Induced1CTD_human
HgeneARNTC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneARNTC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneARNTC3830362Early Pregnancy Loss1CTD_human
HgeneARNTC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneARNTC4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneARNTC4552766Miscarriage1CTD_human
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0029410Osteoarthritis of hip1CTD_human
TgeneC0236733Amphetamine-Related Disorders1CTD_human
TgeneC0236804Amphetamine Addiction1CTD_human
TgeneC0236807Amphetamine Abuse1CTD_human
TgeneC0338480Common Migraine1CTD_human