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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:ARID1B-SMOC2 (FusionGDB2 ID:6517) |
Fusion Gene Summary for ARID1B-SMOC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARID1B-SMOC2 | Fusion gene ID: 6517 | Hgene | Tgene | Gene symbol | ARID1B | SMOC2 | Gene ID | 57492 | 64094 |
| Gene name | AT-rich interaction domain 1B | SPARC related modular calcium binding 2 | |
| Synonyms | 6A3-5|BAF250B|BRIGHT|CSS1|DAN15|ELD/OSA1|MRD12|OSA2|P250R | DTDP1|MST117|MSTP117|MSTP140|SMAP2|bA270C4A.1|bA37D8.1|dJ421D16.1 | |
| Cytomap | 6q25.3 | 6q27 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AT-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 protein | SPARC-related modular calcium-binding protein 2SMAP-2SMOC-2secreted modular calcium-binding protein 2smooth muscle associated protein 2thyroglobulin type-1 repeat containing protein | |
| Modification date | 20200320 | 20200313 | |
| UniProtAcc | Q8NFD5 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000350026, ENST00000346085, ENST00000367148, ENST00000275248, ENST00000478761, | ENST00000356284, ENST00000354536, ENST00000477998, | |
| Fusion gene scores | * DoF score | 27 X 18 X 14=6804 | 10 X 8 X 7=560 |
| # samples | 31 | 10 | |
| ** MAII score | log2(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 breakpoint | ARID1B(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 essential gene 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. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | SMOC2 | GO:0010595 | positive regulation of endothelial cell migration | 16774925 |
| Tgene | SMOC2 | GO:0035470 | positive regulation of vascular wound healing | 16774925 |
| Tgene | SMOC2 | GO:0045743 | positive regulation of fibroblast growth factor receptor signaling pathway | 16774925 |
| Tgene | SMOC2 | GO:0045766 | positive regulation of angiogenesis | 16774925 |
| Tgene | SMOC2 | GO:0045931 | positive regulation of mitotic cell cycle | 16774925 |
| Tgene | SMOC2 | GO:1900748 | positive regulation of vascular endothelial growth factor signaling pathway | 16774925 |
| Tgene | SMOC2 | GO:2000573 | positive regulation of DNA biosynthetic process | 16774925 |
| Fusion 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. |
| Fusion gene breakpoints across SMOC2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BLCA | TCGA-FD-A6TI-01A | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| ChimerDB4 | BLCA | TCGA-FD-A6TI-01A | ARID1B | chr6 | 157150555 | - | SMOC2 | chr6 | 169051361 | + |
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Fusion Gene ORF analysis for ARID1B-SMOC2 |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000350026 | ENST00000356284 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| Frame-shift | ENST00000350026 | ENST00000354536 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| 5CDS-intron | ENST00000350026 | ENST00000477998 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| Frame-shift | ENST00000346085 | ENST00000356284 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| Frame-shift | ENST00000346085 | ENST00000354536 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| 5CDS-intron | ENST00000346085 | ENST00000477998 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| Frame-shift | ENST00000367148 | ENST00000356284 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| Frame-shift | ENST00000367148 | ENST00000354536 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| 5CDS-intron | ENST00000367148 | ENST00000477998 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| Frame-shift | ENST00000275248 | ENST00000356284 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| Frame-shift | ENST00000275248 | ENST00000354536 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| 5CDS-intron | ENST00000275248 | ENST00000477998 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| intron-3CDS | ENST00000478761 | ENST00000356284 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| intron-3CDS | ENST00000478761 | ENST00000354536 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| intron-intron | ENST00000478761 | ENST00000477998 | ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051361 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ARID1B-SMOC2 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051360 | + | 7.27E-06 | 0.9999927 |
| ARID1B | chr6 | 157150555 | + | SMOC2 | chr6 | 169051360 | + | 7.27E-06 | 0.9999927 |
| Distribution 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. |
| Distribution 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-SMOC2 |
| 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARID1B | . |
| 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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
| Retention 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 * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for ARID1B-SMOC2 |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ARID1B-SMOC2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ARID1B-SMOC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ARID1B | C0265338 | Coffin-Siris syndrome | 7 | CLINGEN;CTD_human;GENOMICS_ENGLAND |
| Hgene | ARID1B | C1535926 | Neurodevelopmental Disorders | 2 | CTD_human |
| Hgene | ARID1B | C3281201 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 | 2 | GENOMICS_ENGLAND |
| Hgene | ARID1B | C0014544 | Epilepsy | 1 | CTD_human |
| Hgene | ARID1B | C0019569 | Hirschsprung Disease | 1 | GENOMICS_ENGLAND |
| Hgene | ARID1B | C0027819 | Neuroblastoma | 1 | CTD_human |
| Hgene | ARID1B | C0086237 | Epilepsy, Cryptogenic | 1 | CTD_human |
| Hgene | ARID1B | C0236018 | Aura | 1 | CTD_human |
| Hgene | ARID1B | C0751111 | Awakening Epilepsy | 1 | CTD_human |
| Hgene | ARID1B | C2239176 | Liver carcinoma | 1 | CGI;CTD_human |
| Hgene | ARID1B | C3150215 | CHROMOSOME 6q24-q25 DELETION SYNDROME | 1 | ORPHANET |
| Tgene | SMOC2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | SMOC2 | C0399379 | Dentin dysplasia, type 1 | 1 | CTD_human;GENOMICS_ENGLAND |
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