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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-ARNT (FusionGDB2 ID:6814)

Fusion Gene Summary for ARNT-ARNT

check button Fusion gene summary
Fusion gene informationFusion gene name: ARNT-ARNT
Fusion gene ID: 6814
HgeneTgene
Gene symbol

ARNT

ARNT

Gene ID

375056

375056

Gene nameMIA SH3 domain ER export factor 3MIA SH3 domain ER export factor 3
SynonymsARNT|D320|TANGO|TANGO1|UNQ6077ARNT|D320|TANGO|TANGO1|UNQ6077
Cytomap

1q41

1q41

Type of geneprotein-codingprotein-coding
Descriptiontransport and Golgi organization protein 1 homologC219-reactive peptideMIA family member 3, ER export factormelanoma inhibitory activity family, member 3melanoma inhibitory activity protein 3transport and Golgi organization protein 1transport and Golgi organization protein 1 homologC219-reactive peptideMIA family member 3, ER export factormelanoma inhibitory activity family, member 3melanoma inhibitory activity protein 3transport and Golgi organization protein 1
Modification date2020031320200313
UniProtAcc

P27540

Q8WYA1

Ensembl transtripts involved in fusion geneENST00000358595, ENST00000354396, 
ENST00000515192, ENST00000505755, 
ENST00000468970, 
ENST00000358595, 
ENST00000354396, ENST00000515192, 
ENST00000505755, ENST00000468970, 
Fusion gene scores* DoF score18 X 16 X 9=25929 X 6 X 6=324
# samples 189
** MAII scorelog2(18/2592*10)=-3.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointARNT(150783125)-ARNT(150786662), # 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:0002687

positive regulation of leukocyte migration

17726152

HgeneARNT

GO:0007162

negative regulation of cell adhesion

17726152

HgeneARNT

GO:0030336

negative regulation of cell migration

17044017

HgeneARNT

GO:0042060

wound healing

17044017

TgeneARNT

GO:0002687

positive regulation of leukocyte migration

17726152

TgeneARNT

GO:0007162

negative regulation of cell adhesion

17726152

TgeneARNT

GO:0030336

negative regulation of cell migration

17044017

TgeneARNT

GO:0042060

wound healing

17044017


check buttonFusion gene breakpoints across ARNT (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 ARNT (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/ACB218834ARNTchr1

150783125

-ARNTchr1

150786662

-


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Fusion Gene ORF analysis for ARNT-ARNT

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-3CDSENST00000358595ENST00000358595ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000358595ENST00000354396ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000358595ENST00000515192ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000358595ENST00000505755ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-intronENST00000358595ENST00000468970ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000354396ENST00000358595ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000354396ENST00000354396ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000354396ENST00000515192ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000354396ENST00000505755ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-intronENST00000354396ENST00000468970ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000515192ENST00000358595ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000515192ENST00000354396ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000515192ENST00000515192ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000515192ENST00000505755ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-intronENST00000515192ENST00000468970ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000505755ENST00000358595ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000505755ENST00000354396ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000505755ENST00000515192ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000505755ENST00000505755ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-intronENST00000505755ENST00000468970ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000468970ENST00000358595ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000468970ENST00000354396ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000468970ENST00000515192ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-3CDSENST00000468970ENST00000505755ARNTchr1

150783125

-ARNTchr1

150786662

-
intron-intronENST00000468970ENST00000468970ARNTchr1

150783125

-ARNTchr1

150786662

-

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-ARNT


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 ARNT-ARNT


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
ARNT

P27540

ARNT

Q8WYA1

FUNCTION: Required for activity of the Ah (dioxin) receptor. This protein is required for the ligand-binding subunit to translocate from the cytosol to the nucleus after ligand binding. The complex then initiates transcription of genes involved in the activation of PAH procarcinogens. The heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters and functions as a transcriptional regulator of the adaptive response to hypoxia (By similarity). The heterodimer ARNT:AHR binds to core DNA sequence 5'-TGCGTG-3' within the dioxin response element (DRE) of target gene promoters and activates their transcription (PubMed:28396409). {ECO:0000250|UniProtKB:P53762, ECO:0000269|PubMed:28396409}.FUNCTION: Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. The CLOCK-ARNTL2/BMAL2 heterodimer activates the transcription of SERPINE1/PAI1 and BHLHE40/DEC1. {ECO:0000269|PubMed:11018023, ECO:0000269|PubMed:12738229, ECO:0000269|PubMed:14672706}.

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-ARNT


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-ARNT


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-ARNT


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-ARNT


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
TgeneARNTC0000786Spontaneous abortion1CTD_human
TgeneARNTC0000822Abortion, Tubal1CTD_human
TgeneARNTC0009402Colorectal Carcinoma1CTD_human
TgeneARNTC0009404Colorectal Neoplasms1CTD_human
TgeneARNTC0014175Endometriosis1CTD_human
TgeneARNTC0019193Hepatitis, Toxic1CTD_human
TgeneARNTC0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneARNTC0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneARNTC0023890Liver Cirrhosis1CTD_human
TgeneARNTC0025202melanoma1CTD_human
TgeneARNTC0027659Neoplasms, Experimental1CTD_human
TgeneARNTC0239946Fibrosis, Liver1CTD_human
TgeneARNTC0269102Endometrioma1CTD_human
TgeneARNTC0860207Drug-Induced Liver Disease1CTD_human
TgeneARNTC1262760Hepatitis, Drug-Induced1CTD_human
TgeneARNTC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneARNTC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneARNTC3830362Early Pregnancy Loss1CTD_human
TgeneARNTC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneARNTC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneARNTC4552766Miscarriage1CTD_human