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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:ASXL2-ASXL2 (FusionGDB2 ID:HG55252TG55252) |
Fusion Gene Summary for ASXL2-ASXL2 |
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Fusion gene information | Fusion gene name: ASXL2-ASXL2 | Fusion gene ID: hg55252tg55252 | Hgene | Tgene | Gene symbol | ASXL2 | ASXL2 | Gene ID | 55252 | 55252 |
Gene name | ASXL transcriptional regulator 2 | ASXL transcriptional regulator 2 | |
Synonyms | ASXH2|SHAPNS | ASXH2|SHAPNS | |
Cytomap | ('ASXL2')('ASXL2') 2p23.3 | 2p23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | putative Polycomb group protein ASXL2additional sex combs like 2, transcriptional regulatoradditional sex combs-like protein 2polycomb group protein ASXH2 | putative Polycomb group protein ASXL2additional sex combs like 2, transcriptional regulatoradditional sex combs-like protein 2polycomb group protein ASXH2 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q76L83 | Q76L83 | |
Ensembl transtripts involved in fusion gene | ENST00000272341, ENST00000336112, ENST00000404843, ENST00000435504, ENST00000497092, | ENST00000336112, ENST00000435504, ENST00000272341, ENST00000404843, ENST00000497092, | |
Fusion gene scores | * DoF score | 18 X 11 X 10=1980 | 11 X 14 X 8=1232 |
# samples | 24 | 16 | |
** MAII score | log2(24/1980*10)=-3.04439411935845 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1232*10)=-2.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ASXL2 [Title/Abstract] AND ASXL2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ASXL2(25963992)-ASXL2(25966352), # samples:1 ASXL2(25988945)-ASXL2(25989019), # samples:1 ASXL2(25962790)-ASXL2(25962751), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ASXL2 | GO:0035360 | positive regulation of peroxisome proliferator activated receptor signaling pathway | 21047783 |
Hgene | ASXL2 | GO:0045600 | positive regulation of fat cell differentiation | 21047783 |
Hgene | ASXL2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21047783 |
Tgene | ASXL2 | GO:0035360 | positive regulation of peroxisome proliferator activated receptor signaling pathway | 21047783 |
Tgene | ASXL2 | GO:0045600 | positive regulation of fat cell differentiation | 21047783 |
Tgene | ASXL2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21047783 |
![]() * 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 |
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Fusion Gene ORF analysis for ASXL2-ASXL2 |
![]() * 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 |
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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 ASXL2-ASXL2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ASXL2-ASXL2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:25963992/:25966352) - 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 |
ASXL2 | ASXL2 |
FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. {ECO:0000250, ECO:0000269|PubMed:21047783}. | FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. {ECO:0000250, ECO:0000269|PubMed:21047783}. |
![]() * 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 ASXL2-ASXL2 |
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Fusion Gene PPI Analysis for ASXL2-ASXL2 |
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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 ASXL2-ASXL2 |
![]() (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 ASXL2-ASXL2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ASXL2 | C0005684 | Malignant neoplasm of urinary bladder | 1 | CTD_human |
Hgene | ASXL2 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Hgene | ASXL2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Hgene | ASXL2 | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
Hgene | ASXL2 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
Hgene | ASXL2 | C4310672 | SHASHI-PENA SYNDROME | 1 | GENOMICS_ENGLAND |
Tgene | C0005684 | Malignant neoplasm of urinary bladder | 1 | CTD_human | |
Tgene | C0005695 | Bladder Neoplasm | 1 | CTD_human | |
Tgene | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human | |
Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human | |
Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human | |
Tgene | C4310672 | SHASHI-PENA SYNDROME | 1 | GENOMICS_ENGLAND |