Gene summary |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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. |
ENSG00000205403
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 | 8.093992e+01 | 1.085162e+00 | 3.262076e-14 | 3.270232e-11 |
TC | UP | 2.575223e+02 | 9.966399e-01 | 2.395405e-12 | 3.502515e-10 |
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 |
PCC | UP | ENST00000504853.3 | CFI-203:retained_intron:CFI | 5.510969e+00 | 8.706530e-01 | 5.325370e-04 | 1.716967e-02 |
PG | UP | ENST00000394634.6 | CFI-201:protein_coding:CFI | 3.923575e+01 | 1.581188e+00 | 2.286832e-10 | 1.277614e-07 |
PG | UP | ENST00000643384.1 | CFI-208:lncRNA:CFI | 1.490272e+00 | 1.249905e+00 | 1.131647e-05 | 5.546277e-04 |
PG | UP | ENST00000510800.1 | CFI-204:protein_coding:CFI | 5.802075e+00 | 9.768997e-01 | 7.668144e-04 | 1.202114e-02 |
TC | UP | ENST00000394634.6 | CFI-201:protein_coding:CFI | 1.556158e+02 | 1.039564e+00 | 4.271364e-09 | 4.444415e-07 |
TC | UP | ENST00000510800.1 | CFI-204:protein_coding:CFI | 4.310041e+00 | 9.738340e-01 | 6.453583e-06 | 1.822852e-04 |
TC | UP | ENST00000643384.1 | CFI-208:lncRNA:CFI | 7.160048e-01 | 1.411379e+00 | 3.219245e-05 | 6.529438e-04 |
TC | UP | ENST00000394635.7 | CFI-202:protein_coding:CFI | 3.511445e+01 | 1.319245e+00 | 1.058310e-04 | 1.687262e-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_10505 | chr4 | 109752468:109752503:109757763:109757783:109760270:109760380 | 109757763:109757783 |
exon_skip_23667 | chr4 | 109757763:109757783:109757936:109757959:109760270:109760380 | 109757936:109757959 |
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 |
ENST00000394634 | 109757763 | 109757783 | In-frame |
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 |
ENST00000394634 | 109757763 | 109757783 | In-frame |
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 |
ENST00000394634 | 109757763 | 109757783 | In-frame |
p-ENSG00000205403_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 |
P05156 | approved|investigational | DB01593 | Zinc | small molecule | P05156 |
P05156 | approved|investigational | DB14487 | Zinc acetate | small molecule | P05156 |
P05156 | approved|investigational | DB14533 | Zinc chloride | small molecule | P05156 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |