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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:ATXN2-SH2B3 (FusionGDB2 ID:HG6311TG10019) |
Fusion Gene Summary for ATXN2-SH2B3 |
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Fusion gene information | Fusion gene name: ATXN2-SH2B3 | Fusion gene ID: hg6311tg10019 | Hgene | Tgene | Gene symbol | ATXN2 | SH2B3 | Gene ID | 6311 | 10019 |
Gene name | ataxin 2 | SH2B adaptor protein 3 | |
Synonyms | ATX2|SCA2|TNRC13 | IDDM20|LNK | |
Cytomap | ('ATXN2')('SH2B3') 12q24.12 | 12q24.12 | |
Type of gene | protein-coding | protein-coding | |
Description | ataxin-2spinocerebellar ataxia type 2 proteintrinucleotide repeat-containing gene 13 protein | SH2B adapter protein 3lymphocyte-specific adapter protein Lnksignal transduction protein Lnk | |
Modification date | 20200313 | 20200315 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000550104, ENST00000542287, ENST00000377617, ENST00000389153, ENST00000535949, ENST00000608853, ENST00000549455, | ENST00000377617, ENST00000389153, ENST00000608853, ENST00000535949, ENST00000542287, ENST00000550104, ENST00000549455, | |
Fusion gene scores | * DoF score | 22 X 21 X 8=3696 | 2 X 2 X 2=8 |
# samples | 25 | 2 | |
** MAII score | log2(25/3696*10)=-3.88596475675397 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: ATXN2 [Title/Abstract] AND SH2B3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ATXN2(111893833)-SH2B3(111884557), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ATXN2-SH2B3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ATXN2-SH2B3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ATXN2-SH2B3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ATXN2-SH2B3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ATXN2-SH2B3 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. ATXN2-SH2B3 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SH2B3 | GO:0038163 | thrombopoietin-mediated signaling pathway | 20404132 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 | STAD | TCGA-D7-8576-01A | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
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Fusion Gene ORF analysis for ATXN2-SH2B3 |
![]() * 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 |
3UTR-3CDS | ENST00000550104 | ENST00000341259 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
3UTR-3CDS | ENST00000550104 | ENST00000538307 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
Frame-shift | ENST00000542287 | ENST00000341259 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
Frame-shift | ENST00000542287 | ENST00000538307 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
In-frame | ENST00000377617 | ENST00000341259 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
In-frame | ENST00000377617 | ENST00000538307 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
In-frame | ENST00000389153 | ENST00000341259 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
In-frame | ENST00000389153 | ENST00000538307 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
In-frame | ENST00000535949 | ENST00000341259 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
In-frame | ENST00000535949 | ENST00000538307 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
In-frame | ENST00000608853 | ENST00000341259 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
In-frame | ENST00000608853 | ENST00000538307 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
intron-3CDS | ENST00000549455 | ENST00000341259 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
intron-3CDS | ENST00000549455 | ENST00000538307 | ATXN2 | chr12 | 111893833 | - | SH2B3 | chr12 | 111884557 | + |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ATXN2-SH2B3 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ATXN2 | chr12 | 111893832 | - | SH2B3 | chr12 | 111884556 | + | 0.37432998 | 0.62567 |
ATXN2 | chr12 | 111893832 | - | SH2B3 | chr12 | 111884556 | + | 0.37432998 | 0.62567 |
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Fusion Protein Features for ATXN2-SH2B3 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:111893833/chr12:111884557) - 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. |
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Hgene | Tgene |
. | . |
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}. |
![]() * 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 |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000377617 | - | 23 | 25 | 166_187 | 1248 | 1314.0 | Compositional bias | Note=Poly-Gln |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000377617 | - | 23 | 25 | 213_223 | 1248 | 1314.0 | Compositional bias | Note=Poly-Ser |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000377617 | - | 23 | 25 | 47_158 | 1248 | 1314.0 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000377617 | - | 23 | 25 | 551_734 | 1248 | 1314.0 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000377617 | - | 23 | 25 | 55_64 | 1248 | 1314.0 | Compositional bias | Note=Poly-Pro |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000377617 | - | 23 | 25 | 929_1085 | 1248 | 1314.0 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000550104 | - | 22 | 24 | 166_187 | 1227 | 1015.3333333333334 | Compositional bias | Note=Poly-Gln |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000550104 | - | 22 | 24 | 213_223 | 1227 | 1015.3333333333334 | Compositional bias | Note=Poly-Ser |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000550104 | - | 22 | 24 | 47_158 | 1227 | 1015.3333333333334 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000550104 | - | 22 | 24 | 551_734 | 1227 | 1015.3333333333334 | Compositional bias | Note=Pro-rich |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000550104 | - | 22 | 24 | 55_64 | 1227 | 1015.3333333333334 | Compositional bias | Note=Poly-Pro |
Hgene | ATXN2 | chr12:111893833 | chr12:111884557 | ENST00000550104 | - | 22 | 24 | 929_1085 | 1227 | 1015.3333333333334 | Compositional bias | Note=Pro-rich |
Tgene | SH2B3 | chr12:111893833 | chr12:111884557 | ENST00000341259 | 1 | 8 | 364_462 | 244 | 576.0 | Domain | SH2 |
- 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 |
Tgene | SH2B3 | chr12:111893833 | chr12:111884557 | ENST00000341259 | 1 | 8 | 194_307 | 244 | 576.0 | Domain | Note=PH |
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Fusion Gene Sequence for ATXN2-SH2B3 |
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Fusion Gene PPI Analysis for ATXN2-SH2B3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ATXN2-SH2B3 |
![]() (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 ATXN2-SH2B3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATXN2 | C0752121 | Spinocerebellar Ataxia Type 2 | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | ATXN2 | C0002736 | Amyotrophic Lateral Sclerosis | 2 | CTD_human;ORPHANET |
Hgene | ATXN2 | C0087012 | Ataxia, Spinocerebellar | 2 | CTD_human |
Hgene | ATXN2 | C0752120 | Spinocerebellar Ataxia Type 1 | 2 | CTD_human |
Hgene | ATXN2 | C0752122 | Spinocerebellar Ataxia Type 4 | 2 | CTD_human |
Hgene | ATXN2 | C0752123 | Spinocerebellar Ataxia Type 5 | 2 | CTD_human |
Hgene | ATXN2 | C0752124 | Spinocerebellar Ataxia Type 6 (disorder) | 2 | CTD_human |
Hgene | ATXN2 | C0752125 | Spinocerebellar Ataxia Type 7 | 2 | CTD_human |
Hgene | ATXN2 | C0017612 | Glaucoma, Open-Angle | 1 | CTD_human |
Hgene | ATXN2 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | ATXN2 | C0271148 | Secondary Open Angle Glaucoma | 1 | CTD_human |
Hgene | ATXN2 | C0339573 | Glaucoma, Primary Open Angle | 1 | CTD_human |
Hgene | ATXN2 | C0393554 | Amyotrophic Lateral Sclerosis With Dementia | 1 | CTD_human |
Hgene | ATXN2 | C0543859 | Amyotrophic Lateral Sclerosis, Guam Form | 1 | CTD_human |
Tgene | C0040028 | Thrombocythemia, Essential | 2 | CTD_human;ORPHANET | |
Tgene | C0004368 | Autoimmune state | 1 | GENOMICS_ENGLAND | |
Tgene | C0010054 | Coronary Arteriosclerosis | 1 | CTD_human | |
Tgene | C0011854 | Diabetes Mellitus, Insulin-Dependent | 1 | CTD_human | |
Tgene | C0021368 | Inflammation | 1 | CTD_human | |
Tgene | C0023449 | Acute lymphocytic leukemia | 1 | GENOMICS_ENGLAND | |
Tgene | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human | |
Tgene | C0027051 | Myocardial Infarction | 1 | CTD_human | |
Tgene | C0038454 | Cerebrovascular accident | 1 | CTD_human | |
Tgene | C0042900 | Vitiligo | 1 | CTD_human | |
Tgene | C0205734 | Diabetes, Autoimmune | 1 | CTD_human | |
Tgene | C0242380 | Libman-Sacks Disease | 1 | CTD_human | |
Tgene | C0342302 | Brittle diabetes | 1 | CTD_human | |
Tgene | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human | |
Tgene | C0751956 | Acute Cerebrovascular Accidents | 1 | CTD_human | |
Tgene | C1956346 | Coronary Artery Disease | 1 | CTD_human | |
Tgene | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CGI;GENOMICS_ENGLAND | |
Tgene | C3837958 | Diabetes Mellitus, Ketosis-Prone | 1 | CTD_human | |
Tgene | C4554117 | Diabetes Mellitus, Sudden-Onset | 1 | CTD_human |