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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 CDC42 |
 Gene summary |
| Gene information | Gene symbol | CDC42 | Gene ID | 998 |
| Gene name | cell division cycle 42 | |
| Synonyms | CDC42Hs|G25K|TKS | |
| Cytomap | 1p36.12 | |
| Type of gene | protein-coding | |
| Description | cell division control protein 42 homologG25K GTP-binding proteinGTP binding protein, 25kDadJ224A6.1.1 (cell division cycle 42 (GTP-binding protein, 25kD))dJ224A6.1.2 (cell division cycle 42 (GTP-binding protein, 25kD))growth-regulating proteinsmall | |
| Modification date | 20180526 | |
| UniProtAcc | P60953 | |
| Context | PubMed: CDC42 [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 |
| CDC42 | GO:0030036 | actin cytoskeleton organization | 11035016 |
| CDC42 | GO:0031274 | positive regulation of pseudopodium assembly | 11035016 |
| CDC42 | GO:0051489 | regulation of filopodium assembly | 14978216 |
| CDC42 | GO:1900026 | positive regulation of substrate adhesion-dependent cell spreading | 11807099 |
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Exon skipping events across known transcript of Ensembl for CDC42 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 CDC42 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CDC42 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2324 | 1 | 22379203:22379235:22400586:22400712:22404921:22405076 | 22400586:22400712 | ENSG00000070831.11 | ENST00000344548.3 |
| exon_skip_2327 | 1 | 22379203:22379235:22404921:22405076:22408214:22408287 | 22404921:22405076 | ENSG00000070831.11 | ENST00000315554.8 |
| exon_skip_2333 | 1 | 22404969:22405076:22405198:22405374:22408214:22408287 | 22405198:22405374 | ENSG00000070831.11 | ENST00000498236.1,ENST00000421089.2 |
| exon_skip_2336 | 1 | 22404921:22405076:22408214:22408287:22412931:22413041 | 22408214:22408287 | ENSG00000070831.11 | ENST00000315554.8,ENST00000411827.1,ENST00000344548.3,ENST00000400259.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CDC42 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2324 | 1 | 22379203:22379235:22400586:22400712:22404921:22405076 | 22400586:22400712 | ENSG00000070831.11 | ENST00000344548.3 |
| exon_skip_2327 | 1 | 22379203:22379235:22404921:22405076:22408214:22408287 | 22404921:22405076 | ENSG00000070831.11 | ENST00000315554.8 |
| exon_skip_2333 | 1 | 22404969:22405076:22405198:22405374:22408214:22408287 | 22405198:22405374 | ENSG00000070831.11 | ENST00000498236.1,ENST00000421089.2 |
| exon_skip_2336 | 1 | 22404921:22405076:22408214:22408287:22412931:22413041 | 22408214:22408287 | ENSG00000070831.11 | ENST00000400259.1,ENST00000344548.3,ENST00000315554.8,ENST00000411827.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CDC42 |
| 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 |
| ENST00000315554 | 22404921 | 22405076 | 5CDS-5UTR |
| ENST00000315554 | 22408214 | 22408287 | Frame-shift |
| 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 |
| ENST00000315554 | 22404921 | 22405076 | 5CDS-5UTR |
| ENST00000315554 | 22408214 | 22408287 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CDC42 |
| 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 |
| 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 |
| 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 CDC42 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| BLCA | TCGA-E7-A677-01 | exon_skip_2336 | 22408215 | 22408287 | 22408257 | 22408257 | Frame_Shift_Del | C | - | p.P50fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_2336 | 22408215 | 22408287 | 22408273 | 22408273 | Frame_Shift_Del | T | - | p.L55fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_2336 | 22408215 | 22408287 | 22408273 | 22408273 | Frame_Shift_Del | T | - | p.L55fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_2336 | 22408215 | 22408287 | 22408273 | 22408273 | Frame_Shift_Del | T | - | p.L55fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_2333 | 22405199 | 22405374 | 22405198 | 22405198 | Splice_Site | G | T | e2-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-B5-A0JY-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_2333 | |
| Skipped exon start: 22405199 | |
| Skipped exon end: 22405374 | |
| Mutation start: 22405198 | |
| Mutation end: 22405198 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: e2-1 | |
exon_skip_2333_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_354315_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_382353_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_467199_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_506729_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_517484_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_517493_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_57854_UCEC_TCGA-B5-A0JY-01.png | |
exon_skip_64094_UCEC_TCGA-B5-A0JY-01.png | |
| - 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 |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22404922 | 22405076 | 22405008 | 22405008 | Missense_Mutation | G | A | p.A13T |
| TFK1_BILIARY_TRACT | 22408215 | 22408287 | 22408252 | 22408252 | Missense_Mutation | G | T | p.G48V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDC42 |
| 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 CDC42 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDC42 |
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RelatedDrugs for CDC42 |
| 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 CDC42 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CDC42 | C0036341 | Schizophrenia | 4 | PSYGENET |
| CDC42 | C0001624 | Adrenal Gland Neoplasms | 1 | CTD_human |
| CDC42 | C0019693 | HIV Infections | 1 | CTD_human |
| CDC42 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| CDC42 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| CDC42 | C0027540 | Necrosis | 1 | CTD_human |
| CDC42 | C4225222 | TAKENOUCHI-KOSAKI SYNDROME | 1 | UNIPROT |
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