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Fusion gene ID: 3062 |
FusionGeneSummary for ASXL2_DENND2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ASXL2_DENND2A | Fusion gene ID: 3062 | Hgene | Tgene | Gene symbol | ASXL2 | DENND2A | Gene ID | 55252 | 27147 |
| Gene name | ASXL transcriptional regulator 2 | DENN domain containing 2A | |
| Synonyms | ASXH2|SHAPNS | FAM31D|KIAA1277 | |
| Cytomap | 2p23.3 | 7q34 | |
| 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 | DENN domain-containing protein 2ADENN/MADD domain containing 2A | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q76L83 | Q9ULE3 | |
| Ensembl transtripts involved in fusion gene | ENST00000435504, ENST00000336112, ENST00000272341, ENST00000404843, ENST00000497092, | ENST00000275884, ENST00000537639, ENST00000496613, ENST00000492720, | |
| Fusion gene scores | * DoF score | 13 X 7 X 8=728 | 7 X 6 X 7=294 |
| # samples | 15 | 8 | |
| ** MAII score | log2(15/728*10)=-2.27897594970282 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/294*10)=-1.877744249949 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ASXL2 [Title/Abstract] AND DENND2A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 |
| 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 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | UCEC | TCGA-PG-A915-01A | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 5CDS-5UTR | ENST00000435504 | ENST00000275884 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5CDS-5UTR | ENST00000435504 | ENST00000537639 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5CDS-5UTR | ENST00000435504 | ENST00000496613 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5CDS-5UTR | ENST00000435504 | ENST00000492720 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5UTR-5UTR | ENST00000336112 | ENST00000275884 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5UTR-5UTR | ENST00000336112 | ENST00000537639 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5UTR-5UTR | ENST00000336112 | ENST00000496613 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5UTR-5UTR | ENST00000336112 | ENST00000492720 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5UTR-5UTR | ENST00000272341 | ENST00000275884 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5UTR-5UTR | ENST00000272341 | ENST00000537639 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5UTR-5UTR | ENST00000272341 | ENST00000496613 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| 5UTR-5UTR | ENST00000272341 | ENST00000492720 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| intron-5UTR | ENST00000404843 | ENST00000275884 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| intron-5UTR | ENST00000404843 | ENST00000537639 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| intron-5UTR | ENST00000404843 | ENST00000496613 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| intron-5UTR | ENST00000404843 | ENST00000492720 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| intron-5UTR | ENST00000497092 | ENST00000275884 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| intron-5UTR | ENST00000497092 | ENST00000537639 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| intron-5UTR | ENST00000497092 | ENST00000496613 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
| intron-5UTR | ENST00000497092 | ENST00000492720 | ASXL2 | chr2 | 26101035 | - | DENND2A | chr7 | 140302342 | - |
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FusionProtFeatures for ASXL2_DENND2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ASXL2 | DENND2A |
| Putative Polycomb group (PcG) protein. PcG proteins actby forming multiprotein complexes, which are required to maintainthe transcriptionally repressive state of homeotic genesthroughout development. PcG proteins are not required to initiaterepression, but to maintain it during later stages of development.They probably act via methylation of histones, rendering chromatinheritably changed in its expressibility (By similarity). Involvedin transcriptional regulation mediated by ligand-bound nuclearhormone receptors, such as peroxisome proliferator-activatedreceptor gamma (PPARG). Acts as coactivator for PPARG and enhancesits adipocyte differentiation-inducing activity; the functionseems to involve differential recruitment of acetylated andmethylated histone H3. {ECO:0000250, ECO:0000269|PubMed:21047783}. | Guanine nucleotide exchange factor (GEF) which mayactivate RAB9A and RAB9B. Promotes the exchange of GDP to GTP,converting inactive GDP-bound Rab proteins into their active GTP-bound form. May play a role in late endosomes back to trans-Golginetwork/TGN transport. {ECO:0000269|PubMed:20937701}. |
| 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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FusionGeneSequence for ASXL2_DENND2A |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ASXL2_DENND2A |
| 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 |
| ASXL2 | TRAF6, BAP1, APP, PRPF40A, HECW2, KDM1B, MBD6, FOXK1, MBD5, EXOSC2, KRBOX4, FOXK2, OGT, HCFC1, UBC, TRIM25 | DENND2A | EWSR1 |
| - 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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RelatedDrugs for ASXL2_DENND2A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ASXL2_DENND2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ASXL2 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | ASXL2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
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