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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ASXL1 |
 Gene summary |
| Gene information | Gene symbol | ASXL1 | Gene ID | 171023 |
| Gene name | ASXL transcriptional regulator 1 | |
| Synonyms | BOPS|MDS | |
| Cytomap | 20q11.21 | |
| Type of gene | protein-coding | |
| Description | polycomb group protein ASXL1additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1putative Polycomb group protein ASXL1 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A087WWN0, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ASXL1 | GO:0035522 | monoubiquitinated histone H2A deubiquitination | 20436459 |
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Gene structures and expression levels for ASXL1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000171456
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000651418.1 | ASXL1-227:protein_coding:ASXL1 | 6.016528e+01 | -2.166186e+00 | 1.859444e-11 | 1.620685e-09 |
| CB | UP | ENST00000644168.1 | ASXL1-216:retained_intron:ASXL1 | 6.401173e+00 | 9.805645e-01 | 2.991921e-09 | 1.093865e-07 |
| TC | DOWN | ENST00000651418.1 | ASXL1-227:protein_coding:ASXL1 | 3.340781e+01 | -1.516380e+00 | 8.107938e-05 | 1.366926e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ASXL1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_164322 | chr20 | 32369015:32369123:32371778:32371874:32372164:32372238 | 32371778:32371874 |
| exon_skip_198037 | chr20 | 32431583:32431679:32432880:32432985:32433284:32433410 | 32432880:32432985 |
| exon_skip_211582 | chr20 | 32360017:32360586:32360710:32360806:32366384:32366466 | 32360710:32360806 |
| exon_skip_257024 | chr20 | 32369015:32369123:32371778:32371874:32428128:32428193 | 32371778:32371874 |
| exon_skip_268436 | chr20 | 32366384:32366466:32367727:32367729:32369015:32369123 | 32367727:32367729 |
| exon_skip_294082 | chr20 | 32429338:32429431:32429901:32430053:32431321:32431484 | 32429901:32430053 |
| exon_skip_37477 | chr20 | 32431321:32431484:32431583:32431679:32432880:32432895 | 32431583:32431679 |
| exon_skip_58251 | chr20 | 32366384:32366466:32369015:32369123:32428128:32428193 | 32369015:32369123 |
| exon_skip_60512 | chr20 | 32369015:32369123:32371778:32371874:32372164:32372223 | 32371778:32371874 |
| exon_skip_65396 | chr20 | 32360348:32360586:32360710:32360806:32366384:32366466 | 32360710:32360806 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ASXL1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375687 | 32432880 | 32432985 | Frame-shift |
| ENST00000613218 | 32432880 | 32432985 | Frame-shift |
| ENST00000620121 | 32432880 | 32432985 | Frame-shift |
| ENST00000375687 | 32367727 | 32367729 | In-frame |
| ENST00000375687 | 32429901 | 32430053 | In-frame |
| ENST00000613218 | 32429901 | 32430053 | In-frame |
| ENST00000620121 | 32429901 | 32430053 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375687 | 32367727 | 32367729 | In-frame |
| ENST00000375687 | 32429901 | 32430053 | In-frame |
| ENST00000613218 | 32429901 | 32430053 | In-frame |
| ENST00000620121 | 32429901 | 32430053 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375687 | 32431583 | 32431679 | Frame-shift |
| ENST00000613218 | 32431583 | 32431679 | Frame-shift |
| ENST00000620121 | 32431583 | 32431679 | Frame-shift |
| ENST00000375687 | 32432880 | 32432985 | Frame-shift |
| ENST00000613218 | 32432880 | 32432985 | Frame-shift |
| ENST00000620121 | 32432880 | 32432985 | Frame-shift |
| ENST00000375687 | 32367727 | 32367729 | In-frame |
| ENST00000375687 | 32429901 | 32430053 | In-frame |
| ENST00000613218 | 32429901 | 32430053 | In-frame |
| ENST00000620121 | 32429901 | 32430053 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ASXL1 |
p-ENSG00000171456_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000375687 | 7070 | 1541 | 32429901 | 32430053 | 1013 | 1164 | 189 | 239 |
| ENST00000613218 | 7055 | 1541 | 32429901 | 32430053 | 999 | 1150 | 189 | 239 |
| ENST00000620121 | 5391 | 1541 | 32429901 | 32430053 | 762 | 913 | 189 | 239 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000375687 | 7070 | 1541 | 32429901 | 32430053 | 1013 | 1164 | 189 | 239 |
| ENST00000613218 | 7055 | 1541 | 32429901 | 32430053 | 999 | 1150 | 189 | 239 |
| ENST00000620121 | 5391 | 1541 | 32429901 | 32430053 | 762 | 913 | 189 | 239 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000375687 | 7070 | 1541 | 32429901 | 32430053 | 1013 | 1164 | 189 | 239 |
| ENST00000613218 | 7055 | 1541 | 32429901 | 32430053 | 999 | 1150 | 189 | 239 |
| ENST00000620121 | 5391 | 1541 | 32429901 | 32430053 | 762 | 913 | 189 | 239 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q8IXJ9 | 189 | 239 | 1 | 1541 | Chain | ID=PRO_0000059321;Note=Putative Polycomb group protein ASXL1 |
| Q8IXJ9 | 189 | 239 | 1 | 1541 | Chain | ID=PRO_0000059321;Note=Putative Polycomb group protein ASXL1 |
| Q8IXJ9 | 189 | 239 | 1 | 1541 | Chain | ID=PRO_0000059321;Note=Putative Polycomb group protein ASXL1 |
| Q8IXJ9 | 189 | 239 | 199 | 209 | Compositional bias | Note=Poly-Ser |
| Q8IXJ9 | 189 | 239 | 199 | 209 | Compositional bias | Note=Poly-Ser |
| Q8IXJ9 | 189 | 239 | 199 | 209 | Compositional bias | Note=Poly-Ser |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q8IXJ9 | 189 | 239 | 1 | 1541 | Chain | ID=PRO_0000059321;Note=Putative Polycomb group protein ASXL1 |
| Q8IXJ9 | 189 | 239 | 1 | 1541 | Chain | ID=PRO_0000059321;Note=Putative Polycomb group protein ASXL1 |
| Q8IXJ9 | 189 | 239 | 1 | 1541 | Chain | ID=PRO_0000059321;Note=Putative Polycomb group protein ASXL1 |
| Q8IXJ9 | 189 | 239 | 199 | 209 | Compositional bias | Note=Poly-Ser |
| Q8IXJ9 | 189 | 239 | 199 | 209 | Compositional bias | Note=Poly-Ser |
| Q8IXJ9 | 189 | 239 | 199 | 209 | Compositional bias | Note=Poly-Ser |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q8IXJ9 | 189 | 239 | 1 | 1541 | Chain | ID=PRO_0000059321;Note=Putative Polycomb group protein ASXL1 |
| Q8IXJ9 | 189 | 239 | 1 | 1541 | Chain | ID=PRO_0000059321;Note=Putative Polycomb group protein ASXL1 |
| Q8IXJ9 | 189 | 239 | 1 | 1541 | Chain | ID=PRO_0000059321;Note=Putative Polycomb group protein ASXL1 |
| Q8IXJ9 | 189 | 239 | 199 | 209 | Compositional bias | Note=Poly-Ser |
| Q8IXJ9 | 189 | 239 | 199 | 209 | Compositional bias | Note=Poly-Ser |
| Q8IXJ9 | 189 | 239 | 199 | 209 | Compositional bias | Note=Poly-Ser |
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3'-UTR located exon skipping events that lost miRNA binding sites in ASXL1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ASXL1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for ASXL1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASXL1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ASXL1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP4 | exon_skip_257024 | 5.000330e-01 | 3.487984e-11 |
| CB | PCBP1 | exon_skip_294082 | -4.167386e-01 | 1.848574e-07 |
| CB | PCBP4 | exon_skip_294082 | 4.604979e-01 | 5.611898e-09 |
| TC | SRSF2 | exon_skip_294082 | 4.550588e-01 | 2.608874e-08 |
| TC | SRSF5 | exon_skip_294082 | 4.272609e-01 | 2.130218e-07 |
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RelatedDrugs for ASXL1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ASXL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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