|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
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 | putative Polycomb group protein ASXL1additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1 | |
| Modification date | 20180526 | |
| UniProtAcc | Q8IXJ9 | |
| Context | PubMed: ASXL1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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 |
Top |
Exon skipping events across known transcript of Ensembl for ASXL1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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. |
 |
Top |
Gene isoform structures and expression levels for ASXL1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ASXL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_350081 | 20 | 30946613:30946635:30954186:30954269:30956817:30956926 | 30954186:30954269 | ENSG00000171456.12 | ENST00000542461.1 |
| exon_skip_350091 | 20 | 30947819:30948389:30948512:30948609:30954186:30954269 | 30948512:30948609 | ENSG00000171456.12 | ENST00000555343.1 |
| exon_skip_350094 | 20 | 30954186:30954269:30955529:30955532:30956817:30956926 | 30955529:30955532 | ENSG00000171456.12 | ENST00000375687.4,ENST00000470145.1,ENST00000497249.1,ENST00000375689.1,ENST00000555343.1 |
| exon_skip_350095 | 20 | 30954186:30954269:30956817:30956926:31015930:31016032 | 30956817:30956926 | ENSG00000171456.12 | ENST00000306058.5 |
| exon_skip_350097 | 20 | 30956817:30956926:30959580:30959677:30959966:30960033 | 30959580:30959677 | ENSG00000171456.12 | ENST00000555343.1 |
| exon_skip_350099 | 20 | 30956817:30956926:30959580:30959677:31015930:31016032 | 30959580:30959677 | ENSG00000171456.12 | ENST00000542461.1 |
| exon_skip_350108 | 20 | 31017140:31017234:31017703:31017856:31019123:31019287 | 31017703:31017856 | ENSG00000171456.12 | ENST00000375687.4,ENST00000306058.5 |
| exon_skip_350109 | 20 | 31019385:31019482:31020682:31020788:31021086:31021213 | 31020682:31020788 | ENSG00000171456.12 | ENST00000375687.4,ENST00000306058.5,ENST00000553345.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ASXL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_350091 | 20 | 30947819:30948389:30948512:30948609:30954186:30954269 | 30948512:30948609 | ENSG00000171456.12 | ENST00000555343.1 |
| exon_skip_350094 | 20 | 30954186:30954269:30955529:30955532:30956817:30956926 | 30955529:30955532 | ENSG00000171456.12 | ENST00000375687.4,ENST00000497249.1,ENST00000375689.1,ENST00000555343.1,ENST00000470145.1 |
| exon_skip_350095 | 20 | 30954186:30954269:30956817:30956926:31015930:31016032 | 30956817:30956926 | ENSG00000171456.12 | ENST00000306058.5 |
| exon_skip_350097 | 20 | 30956817:30956926:30959580:30959677:30959966:30960033 | 30959580:30959677 | ENSG00000171456.12 | ENST00000555343.1 |
| exon_skip_350099 | 20 | 30956817:30956926:30959580:30959677:31015930:31016032 | 30959580:30959677 | ENSG00000171456.12 | ENST00000542461.1 |
| exon_skip_350108 | 20 | 31017140:31017234:31017703:31017856:31019123:31019287 | 31017703:31017856 | ENSG00000171456.12 | ENST00000375687.4,ENST00000306058.5 |
| exon_skip_350109 | 20 | 31019385:31019482:31020682:31020788:31021086:31021213 | 31020682:31020788 | ENSG00000171456.12 | ENST00000375687.4,ENST00000306058.5,ENST00000553345.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ASXL1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375687 | 31020682 | 31020788 | Frame-shift |
| ENST00000375687 | 30955529 | 30955532 | In-frame |
| ENST00000375687 | 31017703 | 31017856 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000375687 | 31020682 | 31020788 | Frame-shift |
| ENST00000375687 | 30955529 | 30955532 | In-frame |
| ENST00000375687 | 31017703 | 31017856 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ASXL1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| Loci of skipped exons in TCGA 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 | 7048 | 1541 | 31017703 | 31017856 | 990 | 1142 | 188 | 239 |
| Loci of skipped exons in GTEx 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 | 7048 | 1541 | 31017703 | 31017856 | 990 | 1142 | 188 | 239 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
Top |
SNVs in the skipped exons for ASXL1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_350081 | 30954187 | 30954269 | 30954258 | 30954258 | Frame_Shift_Del | A | - | p.L43fs |
| BLCA | TCGA-CF-A27C-01 | exon_skip_350108 | 31017704 | 31017856 | 31017811 | 31017811 | Nonsense_Mutation | C | T | p.Q225* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 31020683 | 31020788 | 31020742 | 31020743 | Frame_Shift_Ins | - | T | p.V347fs |
| SNU475_LIVER | 30954187 | 30954269 | 30954260 | 30954260 | Missense_Mutation | A | G | p.K44R |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30956818 | 30956926 | 30956844 | 30956844 | Missense_Mutation | A | G | p.N57S |
| NCIH1048_LUNG | 31017704 | 31017856 | 31017737 | 31017737 | Missense_Mutation | G | A | p.G200D |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 31017704 | 31017856 | 31017755 | 31017755 | Missense_Mutation | G | A | p.S206N |
| LN319_CENTRAL_NERVOUS_SYSTEM | 31017704 | 31017856 | 31017794 | 31017794 | Missense_Mutation | G | T | p.G219V |
| SNU81_LARGE_INTESTINE | 31017704 | 31017856 | 31017800 | 31017800 | Missense_Mutation | C | T | p.A221V |
| HT1376_URINARY_TRACT | 31017704 | 31017856 | 31017811 | 31017811 | Missense_Mutation | C | G | p.Q225E |
| NCIH1373_LUNG | 31020683 | 31020788 | 31020782 | 31020782 | Missense_Mutation | G | A | p.G360E |
| SNU81_LARGE_INTESTINE | 31020683 | 31020788 | 31020757 | 31020757 | Nonsense_Mutation | G | T | p.E352* |
| NCIH358_LUNG | 30954187 | 30954269 | 30954269 | 30954270 | Splice_Site | - | AA | p.R47fs |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30954187 | 30954269 | 30954269 | 30954270 | Splice_Site | - | AA | p.R47fs |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASXL1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASXL1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASXL1 |
Top |
RelatedDrugs for ASXL1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ASXL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ASXL1 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| ASXL1 | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
| ASXL1 | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human |
| ASXL1 | C0796232 | Bohring syndrome | 1 | CTD_human;ORPHANET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|