|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for RIC8B |
 Gene summary |
| Gene information | Gene symbol | RIC8B | Gene ID | 55188 |
| Gene name | RIC8 guanine nucleotide exchange factor B | |
| Synonyms | RIC8|hSyn | |
| Cytomap | 12q23.3 | |
| Type of gene | protein-coding | |
| Description | synembryn-Bbrain synembrinbrain synembrynresistance to inhibitors of cholinesterase 8 homolog B | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| RIC8B | GO:0008277 | regulation of G protein-coupled receptor signaling pathway | 12652642 |
Top |
Gene structures and expression levels for RIC8B |
| 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. |
 |
ENSG00000111785
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| 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 | ENST00000462949.5 | RIC8B-204:nonsense_mediated_decay:RIC8B | 1.565989e+01 | 1.651546e+00 | 3.466945e-03 | 3.532828e-02 |
| CB | DOWN | ENST00000470960.1 | RIC8B-206:nonsense_mediated_decay:RIC8B | 5.944087e+01 | -8.445665e-01 | 8.459743e-09 | 2.607168e-07 |
| CB | UP | ENST00000392839.6 | RIC8B-203:protein_coding:RIC8B | 1.868326e+02 | 1.019816e+00 | 8.228532e-08 | 1.800738e-06 |
| CB | UP | ENST00000552619.1 | RIC8B-212:protein_coding:RIC8B | 8.035531e-01 | 1.479053e+00 | 3.896770e-05 | 3.329621e-04 |
| CB | DOWN | ENST00000549643.5 | RIC8B-209:protein_coding:RIC8B | 7.290248e+00 | -1.215697e+00 | 1.198678e-03 | 6.015880e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RIC8B |
| 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_157626 | chr12 | 106774746:106774829:106783997:106784044:106814696:106814870 | 106783997:106784044 |
| exon_skip_162248 | chr12 | 106860268:106860412:106870823:106870942:106885904:106886181 | 106870823:106870942 |
| exon_skip_187568 | chr12 | 106870823:106870942:106873032:106873174:106885904:106886360 | 106873032:106873174 |
| exon_skip_209955 | chr12 | 106870823:106870942:106873032:106873174:106885904:106886181 | 106873032:106873174 |
| exon_skip_251722 | chr12 | 106860268:106860412:106868301:106868423:106870823:106870942 | 106868301:106868423 |
| exon_skip_254893 | chr12 | 106870823:106870942:106874481:106874567:106885904:106886181 | 106874481:106874567 |
| exon_skip_257864 | chr12 | 106870823:106870942:106874481:106874567:106878987:106879125 | 106874481:106874567 |
| exon_skip_260435 | chr12 | 106851450:106851594:106860268:106860412:106885904:106886181 | 106860268:106860412 |
| exon_skip_279668 | chr12 | 106784002:106784044:106814696:106815304:106825726:106825820 | 106814696:106815304 |
| exon_skip_284873 | chr12 | 106774682:106774829:106783997:106784044:106814696:106814966 | 106783997:106784044 |
| exon_skip_33152 | chr12 | 106814696:106815304:106825726:106825820:106842589:106842817 | 106825726:106825820 |
| exon_skip_39234 | chr12 | 106860268:106860412:106870823:106870942:106874481:106874520 | 106870823:106870942 |
| exon_skip_40841 | chr12 | 106783997:106784044:106814696:106815304:106825726:106825820 | 106814696:106815304 |
| exon_skip_46703 | chr12 | 106842589:106842817:106843852:106843947:106851450:106851594 | 106843852:106843947 |
| exon_skip_64620 | chr12 | 106851450:106851594:106860268:106860412:106870823:106870942 | 106860268:106860412 |
| exon_skip_81254 | chr12 | 106878987:106879125:106879775:106879947:106885904:106886181 | 106879775:106879947 |
| exon_skip_88182 | chr12 | 106843852:106843947:106851450:106851594:106860268:106860316 | 106851450:106851594 |
| 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 |
| exon_skip_162248 | MSBB_IFG | 3.366667e-01 | 4.611111e-01 | -1.244444e-01 | 4.049546e-02 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for RIC8B |
| 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 |
| ENST00000638198 | 106825726 | 106825820 | Frame-shift |
| ENST00000638198 | 106851450 | 106851594 | Frame-shift |
| ENST00000638198 | 106783997 | 106784044 | In-frame |
| ENST00000638198 | 106814696 | 106815304 | In-frame |
| ENST00000638198 | 106843852 | 106843947 | 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 |
| ENST00000638198 | 106825726 | 106825820 | Frame-shift |
| ENST00000638198 | 106851450 | 106851594 | Frame-shift |
| ENST00000638198 | 106860268 | 106860412 | Frame-shift |
| ENST00000638198 | 106783997 | 106784044 | In-frame |
| ENST00000638198 | 106814696 | 106815304 | 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 |
| ENST00000638198 | 106825726 | 106825820 | Frame-shift |
| ENST00000638198 | 106851450 | 106851594 | Frame-shift |
| ENST00000638198 | 106783997 | 106784044 | In-frame |
| ENST00000638198 | 106814696 | 106815304 | In-frame |
| ENST00000638198 | 106843852 | 106843947 | In-frame |
| ENST00000638198 | 106870823 | 106870942 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for RIC8B |
p-ENSG00000111785_img4.png |
| 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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in RIC8B |
| 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 |
Top |
SNVs in the skipped exons for RIC8B |
| - 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 |
Top |
AD stage-associated exon skippint events for RIC8B |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIC8B |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for RIC8B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | SNRPA | exon_skip_162248 | 5.489770e-01 | 5.466587e-03 |
Top |
RelatedDrugs for RIC8B |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for RIC8B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|