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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for RIC8A |
Gene summary |
Gene information | Gene symbol | RIC8A | Gene ID | 60626 |
Gene name | RIC8 guanine nucleotide exchange factor A | |
Synonyms | RIC8 | |
Cytomap | 11p15.5 | |
Type of gene | protein-coding | |
Description | synembryn-Aresistance to inhibitors of cholinesterase 8 homolog A | |
Modification date | 20180523 | |
UniProtAcc | Q9NPQ8 | |
Context | PubMed: RIC8A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for RIC8A from UCSC genome browser |
Skipped exons in TCGA and GTEx 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. |
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Gene isoform structures and expression levels for RIC8A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RIC8A |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_55154 | 11 | 208840:208938:209270:209318:209478:209791 | 209270:209318 | ENSG00000177963.8 | ENST00000528357.1 |
exon_skip_55157 | 11 | 209744:210000:210406:210445:210570:210662 | 210406:210445 | ENSG00000177963.8 | ENST00000527728.1 |
exon_skip_55160 | 11 | 211198:211349:212415:212511:212614:212724 | 212415:212511 | ENSG00000177963.8 | ENST00000527696.1,ENST00000526104.1,ENST00000527728.1 |
exon_skip_55163 | 11 | 212727:212759:212836:212981:213298:213418 | 212836:212981 | ENSG00000177963.8 | ENST00000527696.1,ENST00000325207.5,ENST00000526104.1,ENST00000524854.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RIC8A |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_55154 | 11 | 208840:208938:209270:209318:209478:209791 | 209270:209318 | ENSG00000177963.8 | ENST00000528357.1 |
exon_skip_55157 | 11 | 209744:210000:210406:210445:210570:210662 | 210406:210445 | ENSG00000177963.8 | ENST00000527728.1 |
exon_skip_55160 | 11 | 211198:211349:212415:212511:212614:212724 | 212415:212511 | ENSG00000177963.8 | ENST00000526104.1,ENST00000527696.1,ENST00000527728.1 |
exon_skip_55163 | 11 | 212727:212759:212836:212981:213298:213418 | 212836:212981 | ENSG00000177963.8 | ENST00000526104.1,ENST00000325207.5,ENST00000527696.1,ENST00000524854.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RIC8A |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000526104 | 212836 | 212981 | Frame-shift |
ENST00000526104 | 212415 | 212511 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000526104 | 212836 | 212981 | Frame-shift |
ENST00000526104 | 212415 | 212511 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RIC8A |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA 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 |
ENST00000526104 | 3720 | 531 | 212415 | 212511 | 2314 | 2409 | 323 | 355 |
Loci of skipped exons in GTEx 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 |
ENST00000526104 | 3720 | 531 | 212415 | 212511 | 2314 | 2409 | 323 | 355 |
Lost protein functional features of individual exon skipping events in TCGA. |
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 GTEx. |
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 |
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SNVs in the skipped exons for RIC8A |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
LUSC | TCGA-60-2726-01 | exon_skip_55160 | 212416 | 212511 | 212501 | 212501 | Frame_Shift_Del | T | - | p.L352fs |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- 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 |
JHUEM1_ENDOMETRIUM | 212416 | 212511 | 212474 | 212474 | Missense_Mutation | G | A | p.R343Q |
LNCAPCLONEFGC_PROSTATE | 212837 | 212981 | 212876 | 212876 | Missense_Mutation | C | A | p.A417D |
HEC59_ENDOMETRIUM | 212837 | 212981 | 212891 | 212891 | Missense_Mutation | C | T | p.A422V |
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 212837 | 212981 | 212926 | 212926 | Nonsense_Mutation | C | T | p.Q434* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIC8A |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIC8A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIC8A |
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RelatedDrugs for RIC8A |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RIC8A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |