|
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 GADD45A |
Gene summary |
Gene information | Gene symbol | GADD45A | Gene ID | 1647 |
Gene name | growth arrest and DNA damage inducible alpha | |
Synonyms | DDIT1|GADD45 | |
Cytomap | 1p31.3 | |
Type of gene | protein-coding | |
Description | growth arrest and DNA damage-inducible protein GADD45 alphaDDIT-1DNA damage-inducible transcript 1 proteinDNA damage-inducible transcript-1growth arrest and DNA-damage-inducible 45 alpha | |
Modification date | 20180523 | |
UniProtAcc | P24522 | |
Context | PubMed: GADD45A [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 |
GADD45A | GO:0000185 | activation of MAPKKK activity | 9827804 |
GADD45A | GO:0043065 | positive regulation of apoptotic process | 9827804 |
GADD45A | GO:0046330 | positive regulation of JNK cascade | 9827804 |
GADD45A | GO:0071850 | mitotic cell cycle arrest | 10097101 |
GADD45A | GO:1900745 | positive regulation of p38MAPK cascade | 9827804 |
Top |
Exon skipping events across known transcript of Ensembl for GADD45A 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 GADD45A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for GADD45A |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_7197 | 1 | 68150911:68151221:68152032:68152270:68153343:68153570 | 68152032:68152270 | ENSG00000116717.7 | ENST00000370985.3 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for GADD45A |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_7197 | 1 | 68150911:68151221:68152032:68152270:68153343:68153570 | 68152032:68152270 | ENSG00000116717.7 | ENST00000370985.3 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for GADD45A |
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 |
Top |
Infer the effects of exon skipping event on protein functional features for GADD45A |
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 |
Top |
SNVs in the skipped exons for GADD45A |
- 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 |
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68152033 | 68152270 | 68152200 | 68152200 | Missense_Mutation | A | C | p.E105A |
NCIH2087_LUNG | 68152033 | 68152270 | 68152034 | 68152034 | Splice_Site | G | A | p.D50N |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GADD45A |
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 GADD45A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GADD45A |
Top |
RelatedDrugs for GADD45A |
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 GADD45A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
GADD45A | C0019693 | HIV Infections | 1 | CTD_human |
GADD45A | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
GADD45A | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
GADD45A | C0038356 | Stomach Neoplasms | 1 | CTD_human |
GADD45A | C0263454 | Chloracne | 1 | CTD_human |
GADD45A | C0919267 | ovarian neoplasm | 1 | CTD_human |
GADD45A | C3495559 | Juvenile arthritis | 1 | CTD_human |
GADD45A | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |