 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. |
ENSG00000158869
| 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 |
| STG | UP | 2.556863e+01 | 1.341156e+00 | 2.320279e-05 | 2.804774e-03 |
| 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 | ENST00000289902.2 | FCER1G-201:protein_coding:FCER1G | 2.051902e+01 | 1.421434e+00 | 1.574218e-04 | 1.442946e-02 |
| PG | UP | ENST00000289902.2 | FCER1G-201:protein_coding:FCER1G | 3.996526e+01 | 8.314463e-01 | 1.594547e-05 | 7.110698e-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_106991 | chr1 | 161217986:161218077:161218241:161218276:161218703:161218723 | 161218241:161218276 |
| exon_skip_140431 | chr1 | 161215295:161215370:161217986:161218077:161218241:161218276 | 161217986:161218077 |
| 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 |
| ENST00000289902 | 161217986 | 161218077 | 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 |
| ENST00000289902 | 161217986 | 161218077 | Frame-shift |
| ENST00000289902 | 161218241 | 161218276 | 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 |
| ENST00000289902 | 161217986 | 161218077 | Frame-shift |
p-ENSG00000158869_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 |
| ENST00000289902 | 608 | 86 | 161218241 | 161218276 | 168 | 202 | 47 | 59 |
| 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 |
| P30273 | 47 | 59 | 19 | 86 | Chain | ID=PRO_0000016501;Note=High affinity immunoglobulin epsilon receptor subunit gamma |
| P30273 | 47 | 59 | 54 | 82 | Domain | Note=ITAM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00379 |
| P30273 | 47 | 59 | 45 | 86 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| TC | exon_skip_140431 | rs4073054 | chr1:161230697 | 2.504899e-04 | 3.406355e-02 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | RBMS1 | exon_skip_140431 | -4.558890e-01 | 2.200083e-02 |
| IFG | RBM6 | exon_skip_140431 | -4.255227e-01 | 3.394879e-02 |
| IFG | PCBP2 | exon_skip_140431 | -4.314382e-01 | 3.128723e-02 |
| TC | RBMS2 | exon_skip_140431 | -4.382354e-01 | 8.473563e-09 |
Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P30273 | approved | DB00895 | Benzylpenicilloyl Polylysine | small molecule | P30273 |
Diseases associated with this gene.
(DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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