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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 LYL1 |
 Gene summary |
| Gene information | Gene symbol | LYL1 | Gene ID | 4066 |
| Gene name | LYL1, basic helix-loop-helix family member | |
| Synonyms | bHLHa18 | |
| Cytomap | 19p13.13 | |
| Type of gene | protein-coding | |
| Description | protein lyl-1class A basic helix-loop-helix protein 18lymphoblastic leukemia associated hematopoiesis regulator 1lymphoblastic leukemia derived sequence 1 | |
| Modification date | 20180523 | |
| UniProtAcc | P12980 | |
| Context | PubMed: LYL1 [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 |
| LYL1 | GO:0006355 | regulation of transcription, DNA-templated | 10023675 |
| LYL1 | GO:0045893 | positive regulation of transcription, DNA-templated | 18160048 |
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Exon skipping events across known transcript of Ensembl for LYL1 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 LYL1 |
| 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 LYL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_315546 | 19 | 13211503:13211562:13211650:13211862:13213344:13213681 | 13211650:13211862 | ENSG00000104903.4 | ENST00000590974.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LYL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_315546 | 19 | 13211503:13211562:13211650:13211862:13213344:13213681 | 13211650:13211862 | ENSG00000104903.4 | ENST00000590974.1 |
| 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 LYL1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for LYL1 |
| 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 LYL1 |
| - 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-DD-A1EG-01 | exon_skip_315546 | 13211651 | 13211862 | 13211696 | 13211696 | Frame_Shift_Del | G | - | p.P98fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_315546 | 13211651 | 13211862 | 13211649 | 13211649 | Splice_Site | A | G | . |
| - 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 |
| OC316_OVARY | 13211651 | 13211862 | 13211823 | 13211824 | Frame_Shift_Ins | - | G | p.R55fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LYL1 |
| 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 LYL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LYL1 |
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RelatedDrugs for LYL1 |
| 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 LYL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LYL1 | C0023448 | Lymphoid leukemia | 1 | CTD_human |
| LYL1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| LYL1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |
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