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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-SMOC2 (FusionGDB2 ID:HG57492TG64094)

Fusion Gene Summary for ARID1B-SMOC2

check button Fusion gene summary
Fusion gene informationFusion gene name: ARID1B-SMOC2
Fusion gene ID: hg57492tg64094
HgeneTgene
Gene symbol

ARID1B

SMOC2

Gene ID

57492

64094

Gene nameAT-rich interaction domain 1BSPARC related modular calcium binding 2
Synonyms6A3-5|BAF250B|BRIGHT|CSS1|DAN15|ELD/OSA1|MRD12|OSA2|P250RDTDP1|MST117|MSTP117|MSTP140|SMAP2|bA270C4A.1|bA37D8.1|dJ421D16.1
Cytomap('ARID1B')('SMOC2')

6q25.3

6q27

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 proteinSPARC-related modular calcium-binding protein 2SMAP-2SMOC-2secreted modular calcium-binding protein 2smooth muscle associated protein 2thyroglobulin type-1 repeat containing protein
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000275248, ENST00000346085, 
ENST00000350026, ENST00000367148, 
ENST00000478761, 
Fusion gene scores* DoF score27 X 18 X 14=680410 X 8 X 7=560
# samples 3110
** MAII scorelog2(31/6804*10)=-4.45604302038915
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/560*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARID1B [Title/Abstract] AND SMOC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARID1B(157150555)-SMOC2(169051361), # samples:2
Anticipated loss of major functional domain due to fusion event.ARID1B-SMOC2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ARID1B-SMOC2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ARID1B-SMOC2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
TgeneSMOC2

GO:0010595

positive regulation of endothelial cell migration

16774925

TgeneSMOC2

GO:0035470

positive regulation of vascular wound healing

16774925

TgeneSMOC2

GO:0045743

positive regulation of fibroblast growth factor receptor signaling pathway

16774925

TgeneSMOC2

GO:0045766

positive regulation of angiogenesis

16774925

TgeneSMOC2

GO:0045931

positive regulation of mitotic cell cycle

16774925

TgeneSMOC2

GO:1900748

positive regulation of vascular endothelial growth factor signaling pathway

16774925

TgeneSMOC2

GO:2000573

positive regulation of DNA biosynthetic process

16774925



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-FD-A6TI-01AARID1Bchr6

157150555

-SMOC2chr6

169051361

+
ChimerDB4BLCATCGA-FD-A6TI-01AARID1Bchr6

157150555

+SMOC2chr6

169051361

+


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Fusion Gene ORF analysis for ARID1B-SMOC2

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
5CDS-intronENST00000275248ENST00000477998ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
5CDS-intronENST00000346085ENST00000477998ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
5CDS-intronENST00000350026ENST00000477998ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
5CDS-intronENST00000367148ENST00000477998ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
Frame-shiftENST00000275248ENST00000354536ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
Frame-shiftENST00000275248ENST00000356284ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
Frame-shiftENST00000346085ENST00000354536ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
Frame-shiftENST00000346085ENST00000356284ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
Frame-shiftENST00000350026ENST00000354536ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
Frame-shiftENST00000350026ENST00000356284ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
Frame-shiftENST00000367148ENST00000354536ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
Frame-shiftENST00000367148ENST00000356284ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
intron-3CDSENST00000478761ENST00000354536ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
intron-3CDSENST00000478761ENST00000356284ARID1Bchr6

157150555

+SMOC2chr6

169051361

+
intron-intronENST00000478761ENST00000477998ARID1Bchr6

157150555

+SMOC2chr6

169051361

+

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-SMOC2


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)
ARID1Bchr6157150555+SMOC2chr6169051360+7.27E-060.9999927
ARID1Bchr6157150555+SMOC2chr6169051360+7.27E-060.9999927


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 ARID1B-SMOC2


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/:157150555/:169051361)
- 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 ARID1B-SMOC2


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-SMOC2


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-SMOC2


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-SMOC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARID1BC0265338Coffin-Siris syndrome7CLINGEN;CTD_human;GENOMICS_ENGLAND
HgeneARID1BC1535926Neurodevelopmental Disorders2CTD_human
HgeneARID1BC3281201MENTAL RETARDATION, AUTOSOMAL DOMINANT 122GENOMICS_ENGLAND
HgeneARID1BC0014544Epilepsy1CTD_human
HgeneARID1BC0019569Hirschsprung Disease1GENOMICS_ENGLAND
HgeneARID1BC0027819Neuroblastoma1CTD_human
HgeneARID1BC0086237Epilepsy, Cryptogenic1CTD_human
HgeneARID1BC0236018Aura1CTD_human
HgeneARID1BC0751111Awakening Epilepsy1CTD_human
HgeneARID1BC2239176Liver carcinoma1CGI;CTD_human
HgeneARID1BC3150215CHROMOSOME 6q24-q25 DELETION SYNDROME1ORPHANET
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0399379Dentin dysplasia, type 11CTD_human;GENOMICS_ENGLAND