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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for RAC1 |
 Gene summary |
| Gene information | Gene symbol | RAC1 | Gene ID | 5879 |
| Gene name | Rac family small GTPase 1 | |
| Synonyms | MIG5|MRD48|Rac-1|TC-25|p21-Rac1 | |
| Cytomap | 7p22.1 | |
| Type of gene | protein-coding | |
| Description | ras-related C3 botulinum toxin substrate 1cell migration-inducing gene 5 proteinras-like protein TC25ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context | - 31942999(Disruption of a RAC1-centred network is associated with Alzheimer's disease pathology and causes age-dependent neurodegeneration) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| RAC1 | GO:0010592 | positive regulation of lamellipodium assembly | 15467718 |
| RAC1 | GO:0031529 | ruffle organization | 15467718 |
| RAC1 | GO:0032707 | negative regulation of interleukin-23 production | 16982892 |
| RAC1 | GO:0048870 | cell motility | 19403692 |
| RAC1 | GO:0051496 | positive regulation of stress fiber assembly | 23129259 |
| RAC1 | GO:0051894 | positive regulation of focal adhesion assembly | 23129259 |
| RAC1 | GO:0060263 | regulation of respiratory burst | 16636067 |
| RAC1 | GO:1900026 | positive regulation of substrate adhesion-dependent cell spreading | 23129259 |
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Gene structures and expression levels for RAC1 |
| 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. |
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ENSG00000136238
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000497741.5 | RAC1-206:lncRNA:RAC1 | 3.053916e+01 | 2.746045e+00 | 7.367610e-04 | 3.272121e-02 |
| CB | UP | ENST00000642244.1 | SERAC1-207:protein_coding:SERAC1 | 1.336180e+01 | 1.176670e+00 | 7.871825e-03 | 2.858278e-02 |
| 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 RAC1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_104813 | chr7 | 6374563:6374770:6387212:6387283:6391924:6392041 | 6387212:6387283 |
| exon_skip_170482 | chr7 | 6374660:6374770:6375859:6375916:6387212:6387283 | 6375859:6375916 |
| exon_skip_185864 | chr7 | 6400126:6400188:6401868:6402027:6402316:6402365 | 6401868:6402027 |
| exon_skip_217202 | chr7 | 6374563:6374770:6375859:6375916:6387212:6387283 | 6375859:6375916 |
| exon_skip_265704 | chr7 | 6391924:6392041:6400126:6400188:6401868:6402027 | 6400126:6400188 |
| exon_skip_267546 | chr7 | 6391924:6392041:6398662:6398718:6400126:6400188 | 6398662:6398718 |
| exon_skip_27362 | chr7 | 6387212:6387283:6391924:6392041:6400126:6400188 | 6391924:6392041 |
| 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 RAC1 |
| 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 |
| ENST00000348035 | 6401868 | 6402027 | Frame-shift |
| ENST00000348035 | 6400126 | 6400188 | 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 |
| ENST00000348035 | 6401868 | 6402027 | Frame-shift |
| 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 |
| ENST00000348035 | 6391924 | 6392041 | Frame-shift |
| ENST00000348035 | 6401868 | 6402027 | Frame-shift |
| ENST00000348035 | 6400126 | 6400188 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RAC1 |
p-ENSG00000136238_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 |
| ENST00000348035 | 2340 | 192 | 6400126 | 6400188 | 440 | 501 | 75 | 96 |
| 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 |
| ENST00000348035 | 2340 | 192 | 6400126 | 6400188 | 440 | 501 | 75 | 96 |
| 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 |
| P63000 | 75 | 96 | 75 | 75 | Alternative sequence | ID=VSP_005710;Note=In isoform B. T->TVGETYGKDITSRGKDKPIA;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10597294,ECO:0000303|PubMed:11062023,ECO:0000303|Ref.5;Dbxref=PMID:10597294,PMID:11062023 |
| P63000 | 75 | 96 | 76 | 83 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MH1 |
| P63000 | 75 | 96 | 1 | 189 | Chain | ID=PRO_0000042036;Note=Ras-related C3 botulinum toxin substrate 1 |
| P63000 | 75 | 96 | 87 | 95 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MH1 |
| P63000 | 75 | 96 | 93 | 93 | Natural variant | ID=VAR_014545;Note=V->G;Dbxref=dbSNP:rs5826 |
| P63000 | 75 | 96 | 93 | 93 | Natural variant | ID=VAR_014544;Note=V->I;Dbxref=dbSNP:rs5825 |
| 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 |
| P63000 | 75 | 96 | 75 | 75 | Alternative sequence | ID=VSP_005710;Note=In isoform B. T->TVGETYGKDITSRGKDKPIA;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10597294,ECO:0000303|PubMed:11062023,ECO:0000303|Ref.5;Dbxref=PMID:10597294,PMID:11062023 |
| P63000 | 75 | 96 | 76 | 83 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MH1 |
| P63000 | 75 | 96 | 1 | 189 | Chain | ID=PRO_0000042036;Note=Ras-related C3 botulinum toxin substrate 1 |
| P63000 | 75 | 96 | 87 | 95 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1MH1 |
| P63000 | 75 | 96 | 93 | 93 | Natural variant | ID=VAR_014545;Note=V->G;Dbxref=dbSNP:rs5826 |
| P63000 | 75 | 96 | 93 | 93 | Natural variant | ID=VAR_014544;Note=V->I;Dbxref=dbSNP:rs5825 |
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3'-UTR located exon skipping events that lost miRNA binding sites in RAC1 |
| 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 |
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SNVs in the skipped exons for RAC1 |
| - 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 RAC1 |
| 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 RAC1 |
| 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 RAC1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for RAC1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P63000 | approved | DB00993 | Azathioprine | small molecule | P63000 |
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RelatedDiseases for RAC1 |
| 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)
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