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. |
ENSG00000117152
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 | DOWN | 2.276692e+03 | -1.139542e+00 | 9.275788e-10 | 9.206908e-08 |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
DLPFC | DOWN | ENST00000421743.6 | RGS4-204:protein_coding:RGS4 | 2.306175e+02 | -9.484449e-01 | 3.253606e-04 | 1.571694e-02 |
PCC | DOWN | ENST00000421743.6 | RGS4-204:protein_coding:RGS4 | 4.409397e+02 | -8.382138e-01 | 2.814283e-04 | 1.147185e-02 |
PG | DOWN | ENST00000491263.1 | RGS4-205:lncRNA:RGS4 | 3.931810e+01 | -1.115686e+00 | 8.173016e-10 | 3.507314e-07 |
PG | DOWN | ENST00000531057.5 | RGS4-209:protein_coding:RGS4 | 1.048410e+02 | -1.404014e+00 | 2.648745e-07 | 3.224913e-05 |
PG | DOWN | ENST00000367909.10 | RGS4-203:protein_coding:RGS4 | 1.382969e+03 | -1.104104e+00 | 4.064823e-07 | 4.499665e-05 |
PG | DOWN | ENST00000421743.6 | RGS4-204:protein_coding:RGS4 | 1.594421e+02 | -1.171352e+00 | 4.362688e-05 | 1.479048e-03 |
PG | DOWN | ENST00000533019.1 | RGS4-210:lncRNA:RGS4 | 3.794198e+00 | -8.321581e-01 | 3.275631e-03 | 3.389271e-02 |
PG | DOWN | ENST00000527809.5 | RGS4-207:protein_coding:RGS4 | 1.273412e+02 | -1.153888e+00 | 3.506402e-03 | 3.561270e-02 |
CB | UP | ENST00000367909.10 | RGS4-203:protein_coding:RGS4 | 1.353141e+02 | 8.009546e-01 | 8.348250e-05 | 6.360209e-04 |
CB | UP | ENST00000531057.5 | RGS4-209:protein_coding:RGS4 | 3.063105e+00 | 1.190777e+00 | 9.885043e-03 | 3.442297e-02 |
TC | DOWN | ENST00000531057.5 | RGS4-209:protein_coding:RGS4 | 3.311975e+01 | -1.281239e+00 | 5.103668e-04 | 5.848872e-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_184232 | chr1 | 163072805:163072866:163073456:163073622:163074321:163074343 | 163073456:163073622 |
exon_skip_194978 | chr1 | 163069363:163069528:163072395:163072499:163072805:163072866 | 163072395:163072499 |
exon_skip_242154 | chr1 | 163072805:163072866:163073456:163073622:163074321:163076591 | 163073456:163073622 |
exon_skip_286359 | chr1 | 163069363:163069528:163072395:163072866:163073456:163073494 | 163072395:163072866 |
exon_skip_45028 | chr1 | 163072805:163072866:163073456:163073622:163074321:163076200 | 163073456:163073622 |
exon_skip_57316 | chr1 | 163072805:163072866:163073456:163073622:163074321:163074390 | 163073456:163073622 |
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 |
ENST00000367909 | 163073456 | 163073622 | Frame-shift |
ENST00000367909 | 163072395 | 163072499 | 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 |
ENST00000367909 | 163073456 | 163073622 | Frame-shift |
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 |
ENST00000367909 | 163073456 | 163073622 | Frame-shift |
p-ENSG00000117152_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 |
ENST00000367909 | 3217 | 205 | 163072395 | 163072499 | 386 | 489 | 15 | 49 |
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 |
P49798 | 15 | 49 | 1 | 18 | Alternative sequence | ID=VSP_043854;Note=In isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:17707117;Dbxref=PMID:14702039,PMID:17707117 |
P49798 | 15 | 49 | 1 | 205 | Chain | ID=PRO_0000204185;Note=Regulator of G-protein signaling 4 |
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 |