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:ARID5B-NOTCH2 (FusionGDB2 ID:HG84159TG4853)

Fusion Gene Summary for ARID5B-NOTCH2

check button Fusion gene summary
Fusion gene informationFusion gene name: ARID5B-NOTCH2
Fusion gene ID: hg84159tg4853
HgeneTgene
Gene symbol

ARID5B

NOTCH2

Gene ID

84159

4853

Gene nameAT-rich interaction domain 5Bnotch receptor 2
SynonymsDESRT|MRF-2|MRF2AGS2|HJCYS|hN2
Cytomap('ARID5B')('NOTCH2')

10q21.2

1p12

Type of geneprotein-codingprotein-coding
DescriptionAT-rich interactive domain-containing protein 5BARID domain-containing protein 5BAT-rich interactive domain 5B (MRF1-like)MRF1-like proteinmodulator recognition factor 2 (MRF2)neurogenic locus notch homolog protein 2Notch homolog 2notch 2
Modification date2020031320200329
UniProtAcc.

Q04721

Ensembl transtripts involved in fusion geneENST00000279873, ENST00000309334, 
Fusion gene scores* DoF score18 X 15 X 7=189013 X 10 X 6=780
# samples 1814
** MAII scorelog2(18/1890*10)=-3.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/780*10)=-2.47804729680464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARID5B [Title/Abstract] AND NOTCH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARID5B(63816985)-NOTCH2(120470282), # 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
HgeneARID5B

GO:0000122

negative regulation of transcription by RNA polymerase II

8649988

HgeneARID5B

GO:0051091

positive regulation of DNA-binding transcription factor activity

21532585

TgeneNOTCH2

GO:0007050

cell cycle arrest

11306509

TgeneNOTCH2

GO:0007219

Notch signaling pathway

11306509|25985737

TgeneNOTCH2

GO:0010629

negative regulation of gene expression

11306509

TgeneNOTCH2

GO:0010838

positive regulation of keratinocyte proliferation

18469519

TgeneNOTCH2

GO:0045967

negative regulation of growth rate

11306509

TgeneNOTCH2

GO:0046579

positive regulation of Ras protein signal transduction

11306509

TgeneNOTCH2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509

TgeneNOTCH2

GO:2000249

regulation of actin cytoskeleton reorganization

18469519



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 ARID5B-NOTCH2

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 ARID5B-NOTCH2


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 ARID5B-NOTCH2


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/:63816985/:120470282)
- 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
.NOTCH2

Q04721

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: Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus (PubMed:21378985, PubMed:21378989). Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation (PubMed:29149593). Positively regulates self-renewal of liver cancer cells (PubMed:25985737). {ECO:0000250|UniProtKB:O35516, ECO:0000269|PubMed:21378985, ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:25985737, ECO:0000269|PubMed:29149593}.

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 ARID5B-NOTCH2


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 ARID5B-NOTCH2


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 ARID5B-NOTCH2


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 ARID5B-NOTCH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARID5BC0003873Rheumatoid Arthritis2CTD_human
HgeneARID5BC0023452Childhood Acute Lymphoblastic Leukemia2CTD_human
HgeneARID5BC0023453L2 Acute Lymphoblastic Leukemia2CTD_human
HgeneARID5BC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma2CTD_human
HgeneARID5BC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneARID5BC0013221Drug toxicity1CTD_human
HgeneARID5BC0018213Graves Disease1CTD_human
HgeneARID5BC0041755Adverse reaction to drug1CTD_human
TgeneC1857761Alagille Syndrome 25CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0917715Hajdu-Cheney Syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0004114Astrocytoma1CTD_human
TgeneC0006142Malignant neoplasm of breast1CGI;CTD_human
TgeneC0007114Malignant neoplasm of skin1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0007873Uterine Cervical Neoplasm1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0037286Skin Neoplasms1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneC0206663Neuroectodermal Tumor, Primitive1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneC0280785Diffuse Astrocytoma1CTD_human
TgeneC0334579Anaplastic astrocytoma1CTD_human
TgeneC0334580Protoplasmic astrocytoma1CTD_human
TgeneC0334581Gemistocytic astrocytoma1CTD_human
TgeneC0334582Fibrillary Astrocytoma1CTD_human
TgeneC0334583Pilocytic Astrocytoma1CTD_human
TgeneC0334584Spongioblastoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0334596Medulloepithelioma1CTD_human
TgeneC0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneC0547065Mixed oligoastrocytoma1CTD_human
TgeneC0678222Breast Carcinoma1CGI;CTD_human
TgeneC0700367Ependymoblastoma1CTD_human
TgeneC0750935Cerebral Astrocytoma1CTD_human
TgeneC0750936Intracranial Astrocytoma1CTD_human
TgeneC0751675Cerebral Primitive Neuroectodermal Tumor1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC1704230Grade I Astrocytoma1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2930967Gastro-enteropancreatic neuroendocrine tumor1CTD_human
TgeneC2930971Acroosteolysis dominant type1ORPHANET
TgeneC4048328cervical cancer1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human