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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for RAB22A |
Gene summary |
| Gene information | Gene symbol | RAB22A | Gene ID | 57403 |
| Gene name | RAB22A, member RAS oncogene family | |
| Synonyms | - | |
| Cytomap | 20q13.32 | |
| Type of gene | protein-coding | |
| Description | ras-related protein Rab-22AGTP-binding protein RAB22Arab-22 | |
| Modification date | 20180526 | |
| UniProtAcc | Q9UL26 | |
| Context | PubMed: RAB22A [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 |
| RAB22A | GO:0006897 | endocytosis | 11870209 |
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Exon skipping events across known transcript of Ensembl for RAB22A 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 RAB22A |
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 RAB22A |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_353075 | 20 | 56886105:56886178:56918773:56918855:56928328:56928400 | 56918773:56918855 | ENSG00000124209.3 | ENST00000244040.3 |
| exon_skip_353082 | 20 | 56918773:56918855:56928328:56928400:56928487:56928594 | 56928328:56928400 | ENSG00000124209.3 | ENST00000244040.3 |
| exon_skip_353084 | 20 | 56928487:56928594:56929211:56929321:56934661:56942563 | 56929211:56929321 | ENSG00000124209.3 | ENST00000244040.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAB22A |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_353075 | 20 | 56886105:56886178:56918773:56918855:56928328:56928400 | 56918773:56918855 | ENSG00000124209.3 | ENST00000244040.3 |
| exon_skip_353082 | 20 | 56918773:56918855:56928328:56928400:56928487:56928594 | 56928328:56928400 | ENSG00000124209.3 | ENST00000244040.3 |
| exon_skip_353084 | 20 | 56928487:56928594:56929211:56929321:56934661:56942563 | 56929211:56929321 | ENSG00000124209.3 | ENST00000244040.3 |
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 RAB22A |
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 |
| ENST00000244040 | 56918773 | 56918855 | Frame-shift |
| ENST00000244040 | 56929211 | 56929321 | Frame-shift |
| ENST00000244040 | 56928328 | 56928400 | 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 |
| ENST00000244040 | 56918773 | 56918855 | Frame-shift |
| ENST00000244040 | 56929211 | 56929321 | Frame-shift |
| ENST00000244040 | 56928328 | 56928400 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RAB22A |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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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 |
| ENST00000244040 | 8687 | 194 | 56928328 | 56928400 | 480 | 551 | 66 | 90 |
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 |
| ENST00000244040 | 8687 | 194 | 56928328 | 56928400 | 480 | 551 | 66 | 90 |
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 |
| Q9UL26 | 66 | 90 | 1 | 194 | Chain | ID=PRO_0000121209;Note=Ras-related protein Rab-22A |
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 |
| Q9UL26 | 66 | 90 | 1 | 194 | Chain | ID=PRO_0000121209;Note=Ras-related protein Rab-22A |
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SNVs in the skipped exons for RAB22A |
- 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_353075 | 56918774 | 56918855 | 56918806 | 56918806 | Frame_Shift_Del | A | - | p.Q50fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_353075 | 56918774 | 56918855 | 56918806 | 56918806 | Frame_Shift_Del | A | - | p.Q50fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_353075 | 56918774 | 56918855 | 56918833 | 56918833 | Frame_Shift_Del | G | - | p.W59fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_353082 | 56928329 | 56928400 | 56928359 | 56928359 | Frame_Shift_Del | G | - | p.G77fs |
| HNSC | TCGA-CR-7370-01 | exon_skip_353084 | 56929212 | 56929321 | 56929251 | 56929254 | Frame_Shift_Del | TATT | - | p.S139fs |
| HNSC | TCGA-CR-7370-01 | exon_skip_353084 | 56929212 | 56929321 | 56929251 | 56929254 | Frame_Shift_Del | TATT | - | p.SI139fs |
| COAD | TCGA-A6-6781-01 | exon_skip_353084 | 56929212 | 56929321 | 56929281 | 56929281 | Frame_Shift_Del | A | - | p.A149fs |
- 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 |
| EN_ENDOMETRIUM | 56929212 | 56929321 | 56929280 | 56929281 | Frame_Shift_Ins | - | A | p.AK149fs |
| A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56918774 | 56918855 | 56918785 | 56918785 | Missense_Mutation | T | C | p.M43T |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56928329 | 56928400 | 56928357 | 56928357 | Missense_Mutation | G | A | p.R76Q |
| OVK18_OVARY | 56928329 | 56928400 | 56928357 | 56928357 | Missense_Mutation | G | A | p.R76Q |
| SBC1_LUNG | 56928329 | 56928400 | 56928389 | 56928389 | Missense_Mutation | A | C | p.I87L |
| HT115_LARGE_INTESTINE | 56929212 | 56929321 | 56929289 | 56929289 | Missense_Mutation | C | T | p.A152V |
| KM12_LARGE_INTESTINE | 56929212 | 56929321 | 56929289 | 56929289 | Missense_Mutation | C | T | p.A152V |
| NCIH630_LARGE_INTESTINE | 56918774 | 56918855 | 56918853 | 56918853 | Nonsense_Mutation | C | T | p.R66* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB22A |
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 RAB22A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB22A |
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RelatedDrugs for RAB22A |
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 RAB22A |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |