Gene summary |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
ENSG00000018408
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
***cutpoints = c(0, 0.0001, 0.001, 0.01, 1), symbols = c("****", "***", "**", "ns")
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
PG | UP | 6.462005e+02 | 1.042993e+00 | 2.154718e-15 | 3.467393e-12 |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
STG | UP | ENST00000360632.7 | WWTR1-201:protein_coding:WWTR1 | 1.963804e+01 | 1.328005e+00 | 1.650463e-04 | 1.482072e-02 |
PG | UP | ENST00000465804.5 | WWTR1-203:protein_coding:WWTR1 | 5.812345e+02 | 1.125370e+00 | 9.629996e-16 | 5.940544e-12 |
PG | UP | ENST00000360632.7 | WWTR1-201:protein_coding:WWTR1 | 3.681832e+01 | 1.063238e+00 | 1.257479e-04 | 3.254169e-03 |
TC | UP | ENST00000360632.7 | WWTR1-201:protein_coding:WWTR1 | 1.020782e+02 | 1.332284e+00 | 1.782801e-14 | 1.114704e-11 |
TC | UP | ENST00000485244.1 | WWTR1-210:retained_intron:WWTR1 | 1.093487e+00 | 1.468171e+00 | 6.419733e-05 | 1.138861e-03 |
TC | UP | ENST00000471586.5 | WWTR1-205:nonsense_mediated_decay:WWTR1 | 4.234919e+00 | 1.908257e+00 | 3.196028e-04 | 4.037172e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_173552 | chr3 | 149526013:149526125:149527836:149527969:149542335:149542439 | 149527836:149527969 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000360632 | 149527836 | 149527969 | Frame-shift |
ENST00000465804 | 149527836 | 149527969 | Frame-shift |
ENST00000467467 | 149527836 | 149527969 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in MSBB 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 Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000360632 | 149527836 | 149527969 | Frame-shift |
ENST00000465804 | 149527836 | 149527969 | Frame-shift |
ENST00000467467 | 149527836 | 149527969 | Frame-shift |
p-ENSG00000018408_img4.png
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Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
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 MSBB. |
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 Mayo. |
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 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |