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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 RAB27A |
Gene summary |
Gene information | Gene symbol | RAB27A | Gene ID | 5873 |
Gene name | RAB27A, member RAS oncogene family | |
Synonyms | GS2|HsT18676|RAB27|RAM | |
Cytomap | 15q21.3 | |
Type of gene | protein-coding | |
Description | ras-related protein Rab-27AGTP-binding protein Rammutant Ras-related protein Rab-27Arab-27 | |
Modification date | 20200313 | |
UniProtAcc | A0A0H4JC20, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
RAB27A | GO:0006887 | exocytosis | 18812475 |
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Gene structures and expression levels for RAB27A |
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. |
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 |
CB | UP | ENST00000569493.5 | RAB27A-212:protein_coding:RAB27A | 9.689219e+00 | 1.312815e+00 | 3.188552e-03 | 1.357174e-02 |
TC | UP | ENST00000569493.5 | RAB27A-212:protein_coding:RAB27A | 1.007932e+01 | 1.131260e+00 | 3.153297e-04 | 3.997004e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for RAB27A |
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_183043 | chr15 | 55234782:55234956:55259921:55260023:55270165:55270256 | 55259921:55260023 |
exon_skip_253259 | chr15 | 55234782:55234956:55238403:55238491:55270165:55270284 | 55238403:55238491 |
exon_skip_3515 | chr15 | 55234782:55234956:55238403:55238491:55270165:55270256 | 55238403:55238491 |
exon_skip_81615 | chr15 | 55228666:55228712:55230401:55230486:55234782:55234956 | 55230401:55230486 |
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 |
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Open reading frame (ORF) annotation in the exon skipping event for RAB27A |
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 |
ENST00000564609 | 55238403 | 55238491 | 3UTR-3UTR |
ENST00000336787 | 55230401 | 55230486 | Frame-shift |
ENST00000396307 | 55230401 | 55230486 | Frame-shift |
ENST00000564609 | 55230401 | 55230486 | Frame-shift |
ENST00000569493 | 55230401 | 55230486 | 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 |
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 |
ENST00000564609 | 55238403 | 55238491 | 3UTR-3UTR |
ENST00000336787 | 55230401 | 55230486 | Frame-shift |
ENST00000396307 | 55230401 | 55230486 | Frame-shift |
ENST00000564609 | 55230401 | 55230486 | Frame-shift |
ENST00000569493 | 55230401 | 55230486 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RAB27A |
p-ENSG00000069974_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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in RAB27A |
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 |
Mayo | ENST00000564609 | 55238403 | 55238491 | hsa-miR-6715b-3p | chr15:55238420-55238427 | 8mer-1a | chr15:55238405-55238427 | 166.00 | -20.91 |
Mayo | ENST00000564609 | 55238403 | 55238491 | hsa-miR-5089-5p | chr15:55238426-55238433 | 8mer-1a | chr15:55238413-55238434 | 156.00 | -19.62 |
Mayo | ENST00000564609 | 55238403 | 55238491 | hsa-miR-6513-5p | chr15:55238427-55238434 | 8mer-1a | chr15:55238413-55238434 | 156.00 | -19.62 |
Mayo | ENST00000564609 | 55238403 | 55238491 | hsa-miR-3192-5p | chr15:55238436-55238443 | 8mer-1a | chr15:55238422-55238443 | 153.00 | -21.09 |
Mayo | ENST00000564609 | 55238403 | 55238491 | hsa-miR-1298-3p | chr15:55238438-55238445 | 8mer-1a | chr15:55238425-55238445 | 141.00 | -11.29 |
ROSMAP | ENST00000564609 | 55238403 | 55238491 | hsa-miR-6715b-3p | chr15:55238420-55238427 | 8mer-1a | chr15:55238405-55238427 | 166.00 | -20.91 |
ROSMAP | ENST00000564609 | 55238403 | 55238491 | hsa-miR-5089-5p | chr15:55238426-55238433 | 8mer-1a | chr15:55238413-55238434 | 156.00 | -19.62 |
ROSMAP | ENST00000564609 | 55238403 | 55238491 | hsa-miR-6513-5p | chr15:55238427-55238434 | 8mer-1a | chr15:55238413-55238434 | 156.00 | -19.62 |
ROSMAP | ENST00000564609 | 55238403 | 55238491 | hsa-miR-3192-5p | chr15:55238436-55238443 | 8mer-1a | chr15:55238422-55238443 | 153.00 | -21.09 |
ROSMAP | ENST00000564609 | 55238403 | 55238491 | hsa-miR-1298-3p | chr15:55238438-55238445 | 8mer-1a | chr15:55238425-55238445 | 141.00 | -11.29 |
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SNVs in the skipped exons for RAB27A |
- 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 |
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AD stage-associated exon skippint events for RAB27A |
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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB27A |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for RAB27A |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for RAB27A |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RAB27A |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |