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Fusion Protein:ASXL2-MINPP1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ASXL2-MINPP1 | FusionPDB ID: 7312 | FusionGDB2.0 ID: 7312 | Hgene | Tgene | Gene symbol | ASXL2 | MINPP1 | Gene ID | 55252 | 9562 |
| Gene name | ASXL transcriptional regulator 2 | multiple inositol-polyphosphate phosphatase 1 | |
| Synonyms | ASXH2|SHAPNS | HIPER1|MINPP2|MIPP | |
| Cytomap | 2p23.3 | 10q23.2 | |
| 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 | multiple inositol polyphosphate phosphatase 12,3-BPG phosphatase2,3-bisphosphoglycerate 3-phosphataseinositol (1,3,4,5)-tetrakisphosphate 3-phosphataseins(1,3,4,5)P(4) 3-phosphatasemultiple inositol polyphosphate histidine phosphatase, 1multiple ino | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q76L83 | Q9UNW1 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000336112, ENST00000435504, ENST00000272341, ENST00000404843, ENST00000497092, | ENST00000371994, ENST00000472891, ENST00000536010, ENST00000371996, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 18 X 11 X 10=1980 | 7 X 5 X 8=280 |
| # samples | 24 | 8 | |
| ** MAII score | log2(24/1980*10)=-3.04439411935845 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ASXL2 [Title/Abstract] AND MINPP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ASXL2(26068350)-MINPP1(89272881), # samples:2 MINPP1(89268290)-ASXL2(26068432), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ASXL2-MINPP1 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. ASXL2-MINPP1 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. ASXL2-MINPP1 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. ASXL2-MINPP1 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. ASXL2-MINPP1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ASXL2-MINPP1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. ASXL2-MINPP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ASXL2-MINPP1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. MINPP1-ASXL2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. MINPP1-ASXL2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. MINPP1-ASXL2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. MINPP1-ASXL2 seems lost the major protein functional domain in Tgene 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) |
| 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 breakpoints across ASXL2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across MINPP1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 | LUSC | TCGA-90-7769-01A | ASXL2 | chr2 | 26068350 | - | MINPP1 | chr10 | 89272881 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000336112 | ASXL2 | chr2 | 26068350 | - | ENST00000371996 | MINPP1 | chr10 | 89272881 | + | 1923 | 384 | 422 | 1012 | 196 |
| 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 |
| ENST00000336112 | ENST00000371996 | ASXL2 | chr2 | 26068350 | - | MINPP1 | chr10 | 89272881 | + | 0.038818326 | 0.96118164 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >7312_7312_1_ASXL2-MINPP1_ASXL2_chr2_26068350_ENST00000336112_MINPP1_chr10_89272881_ENST00000371996_length(amino acids)=196AA_BP= MAIKGVKSPWCDVFDIDDAKVLEYLNDLKQYWKRGYGYTINSRSSCTLFQDIFQHLDKAVEQKQRSQPISSPVILQFGHAETLLPLLSLM GYFKDKEPLTAYNYKKQMHRKFRSGLIVPYASNLIFVLYHCENAKTPKEQFRVQMLLNEKVLPLAYSQETVSFYEDLKNHYKDILQSCQT -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:26068350/chr10:89272881) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ASXL2 | MINPP1 |
| 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: Acts as a phosphoinositide 5- and phosphoinositide 6-phosphatase and regulates cellular levels of inositol pentakisphosphate (InsP5) and inositol hexakisphosphate (InsP6). Also acts as a 2,3-bisphosphoglycerate 3-phosphatase, by mediating the dephosphorylation of 2,3-bisphosphoglycerate (2,3-BPG) to produce phospho-D-glycerate without formation of 3-phosphoglycerate. May play a role in bone development (endochondral ossification). May play a role in the transition of chondrocytes from proliferation to hypertrophy (By similarity). {ECO:0000250|UniProtKB:F1NPQ2, ECO:0000269|PubMed:18413611}. |
| 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. |
| - 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 | MINPP1 | chr2:26068350 | chr10:89272881 | ENST00000371994 | 0 | 3 | 484_487 | 0 | 313.0 | Motif | Prevents secretion from ER | |
| Tgene | MINPP1 | chr2:26068350 | chr10:89272881 | ENST00000371996 | 1 | 5 | 484_487 | 278.3333333333333 | 488.0 | Motif | Prevents secretion from ER | |
| Tgene | MINPP1 | chr2:26068350 | chr10:89272881 | ENST00000536010 | 1 | 5 | 484_487 | 77.33333333333333 | 287.0 | Motif | Prevents secretion from ER |
| - 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 |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 1173_1176 | 0 | 919.0 | Compositional bias | Note=Poly-Ser |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 303_307 | 0 | 919.0 | Compositional bias | Note=Poly-Leu |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 654_684 | 0 | 919.0 | Compositional bias | Note=Ala-rich |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 687_739 | 0 | 919.0 | Compositional bias | Note=Gly-rich |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 95_235 | 0 | 919.0 | Compositional bias | Note=Ser-rich |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 1173_1176 | 0 | 919.0 | Compositional bias | Note=Poly-Ser |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 303_307 | 0 | 919.0 | Compositional bias | Note=Poly-Leu |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 654_684 | 0 | 919.0 | Compositional bias | Note=Ala-rich |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 687_739 | 0 | 919.0 | Compositional bias | Note=Gly-rich |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 95_235 | 0 | 919.0 | Compositional bias | Note=Ser-rich |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 1173_1176 | 46.666666666666664 | 1436.0 | Compositional bias | Note=Poly-Ser |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 303_307 | 46.666666666666664 | 1436.0 | Compositional bias | Note=Poly-Leu |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 654_684 | 46.666666666666664 | 1436.0 | Compositional bias | Note=Ala-rich |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 687_739 | 46.666666666666664 | 1436.0 | Compositional bias | Note=Gly-rich |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 95_235 | 46.666666666666664 | 1436.0 | Compositional bias | Note=Ser-rich |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 11_86 | 0 | 919.0 | Domain | HTH HARE-type |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 274_383 | 0 | 919.0 | Domain | DEUBAD |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 11_86 | 0 | 919.0 | Domain | HTH HARE-type |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 274_383 | 0 | 919.0 | Domain | DEUBAD |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 11_86 | 46.666666666666664 | 1436.0 | Domain | HTH HARE-type |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 274_383 | 46.666666666666664 | 1436.0 | Domain | DEUBAD |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 174_178 | 0 | 919.0 | Motif | Nuclear localization signal |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 887_891 | 0 | 919.0 | Motif | Note=LXXLL motif 2 |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 174_178 | 0 | 919.0 | Motif | Nuclear localization signal |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 887_891 | 0 | 919.0 | Motif | Note=LXXLL motif 2 |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 174_178 | 46.666666666666664 | 1436.0 | Motif | Nuclear localization signal |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 887_891 | 46.666666666666664 | 1436.0 | Motif | Note=LXXLL motif 2 |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000272341 | - | 2 | 13 | 1397_1434 | 0 | 919.0 | Zinc finger | Note=PHD-type%3B atypical |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000404843 | - | 1 | 10 | 1397_1434 | 0 | 919.0 | Zinc finger | Note=PHD-type%3B atypical |
| Hgene | ASXL2 | chr2:26068350 | chr10:89272881 | ENST00000435504 | - | 2 | 13 | 1397_1434 | 46.666666666666664 | 1436.0 | Zinc finger | Note=PHD-type%3B atypical |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| ASXL2 |  |
| MINPP1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to ASXL2-MINPP1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ASXL2-MINPP1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (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 |
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