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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:ARID1B-ZNF384 (FusionGDB2 ID:6429)

Fusion Gene Summary for ARID1B-ZNF384

check button Fusion gene summary
Fusion gene informationFusion gene name: ARID1B-ZNF384
Fusion gene ID: 6429
HgeneTgene
Gene symbol

ARID1B

ZNF384

Gene ID

57492

171017

Gene nameAT-rich interaction domain 1Bzinc finger protein 384
Synonyms6A3-5|BAF250B|BRIGHT|CSS1|DAN15|ELD/OSA1|MRD12|OSA2|P250RCAGH1|CAGH1A|CIZ|ERDA2|NMP4|NP|TNRC1
Cytomap

6q25.3

12p13.31

Type of geneprotein-codingprotein-coding
DescriptionAT-rich interactive domain-containing protein 1BARID domain-containing protein 1BAT rich interactive domain 1B (SWI1-like)BRG1-associated factor 250bBRG1-binding protein ELD/OSA1ELD (eyelid)/OSA proteinzinc finger protein 384CAG repeat protein 1Cas-interacting zinc finger proteinexpanded repeat domain, CAG/CTG 2nuclear matrix transcription factor 4trinucleotide repeat-containing gene 1 protein
Modification date2020032020200313
UniProtAcc

Q8NFD5

.
Ensembl transtripts involved in fusion geneENST00000275248, ENST00000346085, 
ENST00000350026, ENST00000367148, 
ENST00000478761, 		ENST00000319770, 
ENST00000355772, ENST00000361959, 
ENST00000396795, ENST00000396799, 
ENST00000396801, 
Fusion gene scores* DoF score27 X 18 X 14=68046 X 13 X 5=390
# samples 318
** MAII scorelog2(31/6804*10)=-4.45604302038915
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/390*10)=-2.28540221886225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARID1B [Title/Abstract] AND ZNF384 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
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

check buttonFusion gene breakpoints across ARID1B (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 ZNF384 (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
ChimerKB4..ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
ChimerKB4..ARID1Bchr6

157256599

+ZNF384chr12

157256599

-


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Fusion Gene ORF analysis for ARID1B-ZNF384

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-intronENST00000275248ENST00000319770ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000275248ENST00000319770ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000275248ENST00000355772ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000275248ENST00000355772ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000275248ENST00000361959ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000275248ENST00000361959ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000275248ENST00000396795ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000275248ENST00000396795ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000275248ENST00000396799ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000275248ENST00000396799ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000275248ENST00000396801ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000275248ENST00000396801ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000346085ENST00000319770ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000346085ENST00000319770ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000346085ENST00000355772ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000346085ENST00000355772ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000346085ENST00000361959ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000346085ENST00000361959ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000346085ENST00000396795ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000346085ENST00000396795ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000346085ENST00000396799ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000346085ENST00000396799ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000346085ENST00000396801ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000346085ENST00000396801ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000350026ENST00000319770ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000350026ENST00000319770ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000350026ENST00000355772ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000350026ENST00000355772ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000350026ENST00000361959ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000350026ENST00000361959ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000350026ENST00000396795ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000350026ENST00000396795ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000350026ENST00000396799ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000350026ENST00000396799ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000350026ENST00000396801ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000350026ENST00000396801ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000367148ENST00000319770ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000367148ENST00000319770ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000367148ENST00000355772ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000367148ENST00000355772ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000367148ENST00000361959ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000367148ENST00000361959ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000367148ENST00000396795ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000367148ENST00000396795ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000367148ENST00000396799ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000367148ENST00000396799ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000367148ENST00000396801ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000367148ENST00000396801ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000478761ENST00000319770ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000478761ENST00000319770ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000478761ENST00000355772ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000478761ENST00000355772ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000478761ENST00000361959ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000478761ENST00000361959ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000478761ENST00000396795ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000478761ENST00000396795ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000478761ENST00000396799ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000478761ENST00000396799ARID1Bchr6

157256599

+ZNF384chr12

157256599

-
intron-intronENST00000478761ENST00000396801ARID1Bchr6

157222509

+ZNF384chr12

157222509

-
intron-intronENST00000478761ENST00000396801ARID1Bchr6

157256599

+ZNF384chr12

157256599

-

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 ARID1B-ZNF384


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 ARID1B-ZNF384


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/:/:)
- 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
ARID1B

Q8NFD5

.
FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388). {ECO:0000250|UniProtKB:E9Q4N7, ECO:0000269|PubMed:14982958, ECO:0000269|PubMed:15170388, ECO:0000303|PubMed:12672490, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.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 ARID1B-ZNF384


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 ARID1B-ZNF384


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 ARID1B-ZNF384


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 ARID1B-ZNF384


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