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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:ARNTL2-CCDC91 (FusionGDB2 ID:6741)

Fusion Gene Summary for ARNTL2-CCDC91

check button Fusion gene summary
Fusion gene informationFusion gene name: ARNTL2-CCDC91
Fusion gene ID: 6741
HgeneTgene
Gene symbol

ARNTL2

CCDC91

Gene ID

56938

55297

Gene namearyl hydrocarbon receptor nuclear translocator like 2coiled-coil domain containing 91
SynonymsBMAL2|CLIF|MOP9|PASD9|bHLHe6HSD8|p56
Cytomap

12p11.23

12p11.22

Type of geneprotein-codingprotein-coding
Descriptionaryl hydrocarbon receptor nuclear translocator-like protein 2CYCLE-like factorPAS domain-containing protein 9basic-helix-loop-helix-PAS protein MOP9brain and muscle ARNT-like 2class E basic helix-loop-helix protein 6member of PAS protein 9transcripcoiled-coil domain-containing protein 91GGA-binding partnerp56 accessory protein
Modification date2020031320200313
UniProtAcc

Q8WYA1

Q7Z6B0

Ensembl transtripts involved in fusion geneENST00000539558, ENST00000261178, 
ENST00000266503, ENST00000311001, 
ENST00000395901, ENST00000542388, 
ENST00000544915, ENST00000546179, 
ENST00000545336, ENST00000306172, 
ENST00000381256, ENST00000381259, 
ENST00000539107, ENST00000540401, 
Fusion gene scores* DoF score4 X 3 X 4=4815 X 14 X 9=1890
# samples 417
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1890*10)=-3.47477958297073
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARNTL2 [Title/Abstract] AND CCDC91 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARNTL2(27521345)-CCDC91(28378728), # 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
HgeneARNTL2

GO:0006357

regulation of transcription by RNA polymerase II

12055078

HgeneARNTL2

GO:0007623

circadian rhythm

10864977

HgeneARNTL2

GO:0045893

positive regulation of transcription, DNA-templated

12738229

HgeneARNTL2

GO:0045944

positive regulation of transcription by RNA polymerase II

15147242


check buttonFusion gene breakpoints across ARNTL2 (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 CCDC91 (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
ChimerDB4BLCATCGA-UY-A9PB-01AARNTL2chr12

27521345

+CCDC91chr12

28378728

+


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Fusion Gene ORF analysis for ARNTL2-CCDC91

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
3UTR-5UTRENST00000539558ENST00000545336ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
3UTR-intronENST00000539558ENST00000306172ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
3UTR-intronENST00000539558ENST00000381256ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
3UTR-intronENST00000539558ENST00000381259ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
3UTR-intronENST00000539558ENST00000539107ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
3UTR-intronENST00000539558ENST00000540401ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-5UTRENST00000261178ENST00000545336ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-5UTRENST00000266503ENST00000545336ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-5UTRENST00000311001ENST00000545336ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-5UTRENST00000395901ENST00000545336ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-5UTRENST00000542388ENST00000545336ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-5UTRENST00000544915ENST00000545336ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-5UTRENST00000546179ENST00000545336ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000261178ENST00000306172ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000261178ENST00000381256ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000261178ENST00000381259ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000261178ENST00000539107ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000261178ENST00000540401ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000266503ENST00000306172ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000266503ENST00000381256ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000266503ENST00000381259ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000266503ENST00000539107ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000266503ENST00000540401ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000311001ENST00000306172ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000311001ENST00000381256ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000311001ENST00000381259ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000311001ENST00000539107ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000311001ENST00000540401ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000395901ENST00000306172ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000395901ENST00000381256ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000395901ENST00000381259ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000395901ENST00000539107ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000395901ENST00000540401ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000542388ENST00000306172ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000542388ENST00000381256ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000542388ENST00000381259ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000542388ENST00000539107ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000542388ENST00000540401ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000544915ENST00000306172ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000544915ENST00000381256ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000544915ENST00000381259ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000544915ENST00000539107ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000544915ENST00000540401ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000546179ENST00000306172ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000546179ENST00000381256ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000546179ENST00000381259ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000546179ENST00000539107ARNTL2chr12

27521345

+CCDC91chr12

28378728

+
5CDS-intronENST00000546179ENST00000540401ARNTL2chr12

27521345

+CCDC91chr12

28378728

+

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 ARNTL2-CCDC91


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)
ARNTL2chr1227521345+CCDC91chr1228378727+0.72317590.27682412
ARNTL2chr1227521345+CCDC91chr1228378727+0.72317590.27682412

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.
genomic feature of top 1%

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Fusion Protein Features for ARNTL2-CCDC91


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/:27521345/:28378728)
- 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
ARNTL2

Q8WYA1

CCDC91

Q7Z6B0

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}.FUNCTION: Involved in the regulation of membrane traffic through the trans-Golgi network (TGN). Functions in close cooperation with the GGAs in the sorting of hydrolases to lysosomes. {ECO:0000269|PubMed:17596511}.

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 ARNTL2-CCDC91


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 ARNTL2-CCDC91


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 ARNTL2-CCDC91


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 ARNTL2-CCDC91


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource