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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 EAF1 |
Gene summary |
Gene information | Gene symbol | EAF1 | Gene ID | 85403 |
Gene name | ELL associated factor 1 | |
Synonyms | - | |
Cytomap | 3p25.1 | |
Type of gene | protein-coding | |
Description | ELL-associated factor 1ELL (eleven nineteen lysine-rich leukemia gene)-associated factor 1 | |
Modification date | 20180519 | |
UniProtAcc | Q96JC9 | |
Context | PubMed: EAF1 [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 EAF1 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 EAF1 |
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 EAF1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_372029 | 3 | 15471422:15471514:15473593:15473730:15475854:15476045 | 15473593:15473730 | ENSG00000144597.9 | ENST00000396842.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EAF1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_372029 | 3 | 15471422:15471514:15473593:15473730:15475854:15476045 | 15473593:15473730 | ENSG00000144597.9 | ENST00000396842.2 |
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 EAF1 |
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 |
ENST00000396842 | 15473593 | 15473730 | 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 |
ENST00000396842 | 15473593 | 15473730 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EAF1 |
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 EAF1 |
- 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 |
THYM | TCGA-X7-A8DF-01 | exon_skip_372029 | 15473594 | 15473730 | 15473594 | 15473594 | Nonsense_Mutation | G | T | p.G67X |
UCEC | TCGA-BS-A0TJ-01 | exon_skip_372029 | 15473594 | 15473730 | 15473731 | 15473731 | Splice_Site | G | A | e3+1 |
UCEC | TCGA-BS-A0TJ-01 | exon_skip_372029 | 15473594 | 15473730 | 15473731 | 15473731 | Splice_Site | G | A | p.R112_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 |
NCIH441_LUNG | 15473594 | 15473730 | 15473624 | 15473624 | Missense_Mutation | G | A | p.G77R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EAF1 |
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 EAF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EAF1 |
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RelatedDrugs for EAF1 |
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 EAF1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |