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. |
ENSG00000183196
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 | 5.644703e+02 | 1.051537e+00 | 5.071063e-14 | 4.326588e-11 |
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 |
PG | UP | ENST00000332272.9 | CHST6-201:protein_coding:CHST6 | 5.416250e+02 | 1.093670e+00 | 3.423005e-14 | 1.126176e-10 |
PG | UP | ENST00000649824.1 | CHST6-204:nonsense_mediated_decay:CHST6 | 5.496467e+00 | 1.576602e+00 | 8.924018e-04 | 1.341466e-02 |
CB | UP | ENST00000649824.1 | CHST6-204:nonsense_mediated_decay:CHST6 | 1.917119e+01 | 1.025075e+00 | 1.551691e-05 | 1.530679e-04 |
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_105113 | chr16 | 75478533:75479844:75481817:75481891:75494940:75495308 | 75481817:75481891 |
exon_skip_111001 | chr16 | 75481817:75481891:75490614:75490769:75494940:75495308 | 75490614:75490769 |
exon_skip_117832 | chr16 | 75473181:75473508:75478084:75479844:75481817:75481891 | 75478084:75479844 |
exon_skip_202256 | chr16 | 75478533:75479844:75481817:75481981:75494940:75495308 | 75481817:75481981 |
exon_skip_254181 | chr16 | 75473361:75473467:75478533:75479844:75481817:75481891 | 75478533:75479844 |
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 |
ENST00000390664 | 75490614 | 75490769 | 3UTR-3UTR |
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 |
ENST00000390664 | 75490614 | 75490769 | 3UTR-3UTR |
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 |
ENST00000390664 | 75490614 | 75490769 | 3UTR-3UTR |
p-ENSG00000183196_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 |
Mayo | ENST00000390664 | 75490614 | 75490769 | hsa-miR-3059-3p | chr16:75490761-75490768 | 8mer-1a | chr16:75490747-75490768 | 145.00 | -17.22 |
Mayo | ENST00000390664 | 75490614 | 75490769 | hsa-miR-4999-5p | chr16:75490732-75490739 | 8mer-1a | chr16:75490732-75490752 | 155.00 | -23.01 |
Mayo | ENST00000390664 | 75490614 | 75490769 | hsa-miR-6719-3p | chr16:75490661-75490668 | 8mer-1a | chr16:75490647-75490668 | 148.00 | -15.38 |
Mayo | ENST00000390664 | 75490614 | 75490769 | hsa-miR-4272 | chr16:75490711-75490718 | 8mer-1a | chr16:75490704-75490726 | 157.00 | -19.90 |
Mayo | ENST00000390664 | 75490614 | 75490769 | hsa-miR-767-5p | chr16:75490668-75490675 | 8mer-1a | chr16:75490663-75490682 | 159.00 | -19.89 |
MSBB | ENST00000390664 | 75490614 | 75490769 | hsa-miR-3059-3p | chr16:75490761-75490768 | 8mer-1a | chr16:75490747-75490768 | 145.00 | -17.22 |
MSBB | ENST00000390664 | 75490614 | 75490769 | hsa-miR-4999-5p | chr16:75490732-75490739 | 8mer-1a | chr16:75490732-75490752 | 155.00 | -23.01 |
MSBB | ENST00000390664 | 75490614 | 75490769 | hsa-miR-6719-3p | chr16:75490661-75490668 | 8mer-1a | chr16:75490647-75490668 | 148.00 | -15.38 |
MSBB | ENST00000390664 | 75490614 | 75490769 | hsa-miR-4272 | chr16:75490711-75490718 | 8mer-1a | chr16:75490704-75490726 | 157.00 | -19.90 |
MSBB | ENST00000390664 | 75490614 | 75490769 | hsa-miR-767-5p | chr16:75490668-75490675 | 8mer-1a | chr16:75490663-75490682 | 159.00 | -19.89 |
ROSMAP | ENST00000390664 | 75490614 | 75490769 | hsa-miR-3059-3p | chr16:75490761-75490768 | 8mer-1a | chr16:75490747-75490768 | 145.00 | -17.22 |
ROSMAP | ENST00000390664 | 75490614 | 75490769 | hsa-miR-4999-5p | chr16:75490732-75490739 | 8mer-1a | chr16:75490732-75490752 | 155.00 | -23.01 |
ROSMAP | ENST00000390664 | 75490614 | 75490769 | hsa-miR-6719-3p | chr16:75490661-75490668 | 8mer-1a | chr16:75490647-75490668 | 148.00 | -15.38 |
ROSMAP | ENST00000390664 | 75490614 | 75490769 | hsa-miR-4272 | chr16:75490711-75490718 | 8mer-1a | chr16:75490704-75490726 | 157.00 | -19.90 |
ROSMAP | ENST00000390664 | 75490614 | 75490769 | hsa-miR-767-5p | chr16:75490668-75490675 | 8mer-1a | chr16:75490663-75490682 | 159.00 | -19.89 |
- 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 |
CB | PCBP4 | exon_skip_111001 | 4.006366e-01 | 2.873436e-07 |
TC | PCBP4 | exon_skip_111001 | 4.114582e-01 | 2.251674e-07 |
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 |