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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ASMTL |
 Gene summary |
| Gene information | Gene symbol | ASMTL | Gene ID | 8623 |
| Gene name | acetylserotonin O-methyltransferase like | |
| Synonyms | ASMTLX|ASMTLY|ASTML | |
| Cytomap | Xp22.33 and Yp11.2 | |
| Type of gene | protein-coding | |
| Description | N-acetylserotonin O-methyltransferase-like proteinacetylserotonin N-methyltransferase-like | |
| Modification date | 20180519 | |
| UniProtAcc | O95671 | |
| Context | PubMed: ASMTL [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 |
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Exon skipping events across known transcript of Ensembl for ASMTL 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. |
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Gene isoform structures and expression levels for ASMTL |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ASMTL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513521 | X | 1522033:1522382:1531624:1531747:1536865:1536934 | 1531624:1531747 | ENSG00000169093.10 | ENST00000381333.4,ENST00000381317.3,ENST00000534940.1,ENST00000416733.2 |
| exon_skip_513524 | X | 1536865:1537009:1537874:1538007:1540550:1540735 | 1537874:1538007 | ENSG00000169093.10 | ENST00000381333.4,ENST00000381317.3,ENST00000534940.1,ENST00000416733.2 |
| exon_skip_513527 | X | 1553914:1553976:1554586:1554651:1557989:1558037 | 1554586:1554651 | ENSG00000169093.10 | ENST00000381317.3,ENST00000534940.1 |
| exon_skip_513529 | X | 1554586:1554651:1557989:1558037:1561078:1561210 | 1557989:1558037 | ENSG00000169093.10 | ENST00000381317.3,ENST00000534940.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ASMTL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513521 | X | 1522033:1522382:1531624:1531747:1536865:1536934 | 1531624:1531747 | ENSG00000169093.10 | ENST00000416733.2,ENST00000534940.1,ENST00000381317.3,ENST00000381333.4 |
| exon_skip_513524 | X | 1536865:1537009:1537874:1538007:1540550:1540735 | 1537874:1538007 | ENSG00000169093.10 | ENST00000416733.2,ENST00000534940.1,ENST00000381317.3,ENST00000381333.4 |
| exon_skip_513527 | X | 1553914:1553976:1554586:1554651:1557989:1558037 | 1554586:1554651 | ENSG00000169093.10 | ENST00000534940.1,ENST00000381317.3 |
| exon_skip_513529 | X | 1554586:1554651:1557989:1558037:1561078:1561210 | 1557989:1558037 | ENSG00000169093.10 | ENST00000534940.1,ENST00000381317.3 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ASMTL |
| 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 |
| ENST00000381317 | 1531624 | 1531747 | In-frame |
| ENST00000381317 | 1537874 | 1538007 | In-frame |
| ENST00000381317 | 1554586 | 1554651 | In-frame |
| ENST00000381317 | 1557989 | 1558037 | 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 |
| ENST00000381317 | 1531624 | 1531747 | In-frame |
| ENST00000381317 | 1537874 | 1538007 | In-frame |
| ENST00000381317 | 1554586 | 1554651 | In-frame |
| ENST00000381317 | 1557989 | 1558037 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ASMTL |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for ASMTL |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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_513529 | 1557990 | 1558037 | 1558020 | 1558020 | Frame_Shift_Del | G | - | p.P23fs |
| SKCM | TCGA-FR-A8YC-06 | exon_skip_513524 | 1537875 | 1538007 | 1537995 | 1537995 | Nonsense_Mutation | G | A | p.Q362* |
| HNSC | TCGA-CV-6936-01 | exon_skip_513527 | 1554587 | 1554651 | 1554652 | 1554652 | Splice_Site | C | T | p.T92_splice |
| - 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 |
| HEC59_ENDOMETRIUM | 1554587 | 1554651 | 1554639 | 1554640 | Frame_Shift_Ins | - | C | p.L96fs |
| CW2_LARGE_INTESTINE | 1554587 | 1554651 | 1554639 | 1554640 | Frame_Shift_Ins | - | C | p.L96fs |
| SNU1_STOMACH | 1537875 | 1538007 | 1537891 | 1537893 | In_Frame_Del | GGA | - | p.S454del |
| HCT116_LARGE_INTESTINE | 1531625 | 1531747 | 1531651 | 1531651 | Missense_Mutation | C | T | p.S540N |
| JHUEM7_ENDOMETRIUM | 1531625 | 1531747 | 1531673 | 1531673 | Missense_Mutation | C | T | p.D533N |
| HEC108_ENDOMETRIUM | 1537875 | 1538007 | 1537916 | 1537916 | Missense_Mutation | G | T | p.A446D |
| JHOS3_OVARY | 1537875 | 1538007 | 1537949 | 1537949 | Missense_Mutation | A | G | p.M435T |
| SW48_LARGE_INTESTINE | 1537875 | 1538007 | 1537965 | 1537965 | Missense_Mutation | G | A | p.R430W |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1537875 | 1538007 | 1537982 | 1537982 | Missense_Mutation | G | A | p.T424M |
| HCC1395_BREAST | 1537875 | 1538007 | 1537989 | 1537989 | Missense_Mutation | G | A | p.P422S |
| OC316_OVARY | 1554587 | 1554651 | 1554599 | 1554599 | Missense_Mutation | C | A | p.R109M |
| OC314_OVARY | 1554587 | 1554651 | 1554599 | 1554599 | Missense_Mutation | C | A | p.R109M |
| HCC2998_LARGE_INTESTINE | 1557990 | 1558037 | 1557992 | 1557992 | Missense_Mutation | C | T | p.V91M |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1531625 | 1531747 | 1531746 | 1531746 | Splice_Site | A | G | p.G508G |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1554587 | 1554651 | 1554588 | 1554588 | Splice_Site | G | A | p.R113W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASMTL |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASMTL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASMTL |
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RelatedDrugs for ASMTL |
| 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 |
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RelatedDiseases for ASMTL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ASMTL | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
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