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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 DLK1 |
Gene summary |
Gene information | Gene symbol | DLK1 | Gene ID | 8788 |
Gene name | delta like non-canonical Notch ligand 1 | |
Synonyms | DLK|DLK-1|Delta1|FA1|PREF1|Pref-1|ZOG|pG2 | |
Cytomap | 14q32.2 | |
Type of gene | protein-coding | |
Description | protein delta homolog 1delta-like 1 homologfetal antigen 1preadipocyte factor 1secredeltin | |
Modification date | 20180523 | |
UniProtAcc | P80370 | |
Context | PubMed: DLK1 [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 |
DLK1 | GO:0045746 | negative regulation of Notch signaling pathway | 25093684 |
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Exon skipping events across known transcript of Ensembl for DLK1 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 DLK1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for DLK1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_109983 | 14 | 101193407:101193472:101194732:101194796:101195272:101195403 | 101194732:101194796 | ENSG00000185559.9 | ENST00000392848.5,ENST00000556051.1,ENST00000341267.4,ENST00000331224.6 |
exon_skip_109987 | 14 | 101194732:101194796:101195272:101195403:101198378:101198407 | 101195272:101195403 | ENSG00000185559.9 | ENST00000392848.5,ENST00000341267.4,ENST00000331224.6 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DLK1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_109983 | 14 | 101193407:101193472:101194732:101194796:101195272:101195403 | 101194732:101194796 | ENSG00000185559.9 | ENST00000392848.5,ENST00000341267.4,ENST00000331224.6,ENST00000556051.1 |
exon_skip_109987 | 14 | 101194732:101194796:101195272:101195403:101198378:101198407 | 101195272:101195403 | ENSG00000185559.9 | ENST00000392848.5,ENST00000341267.4,ENST00000331224.6 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for DLK1 |
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 |
ENST00000341267 | 101194732 | 101194796 | Frame-shift |
ENST00000341267 | 101195272 | 101195403 | Frame-shift |
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 |
ENST00000341267 | 101194732 | 101194796 | Frame-shift |
ENST00000341267 | 101195272 | 101195403 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for DLK1 |
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 |
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 DLK1 |
- 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 |
- 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 |
NCIH446_LUNG | 101194733 | 101194796 | 101194774 | 101194774 | Missense_Mutation | T | A | p.C37S |
RVH421_SKIN | 101194733 | 101194796 | 101194786 | 101194786 | Missense_Mutation | A | G | p.N41D |
HCT15_LARGE_INTESTINE | 101195273 | 101195403 | 101195281 | 101195281 | Missense_Mutation | C | A | p.P47H |
DU145_PROSTATE | 101195273 | 101195403 | 101195331 | 101195331 | Missense_Mutation | C | A | p.L64I |
NCIH1568_LUNG | 101194733 | 101194796 | 101194755 | 101194755 | Nonsense_Mutation | C | A | p.C30* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DLK1 |
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 DLK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DLK1 |
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RelatedDrugs for DLK1 |
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 DLK1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
DLK1 | C0015934 | Fetal Growth Retardation | 1 | CTD_human |
DLK1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |