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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 CDK5RAP2 |
 Gene summary |
| Gene information | Gene symbol | CDK5RAP2 | Gene ID | 55755 |
| Gene name | CDK5 regulatory subunit associated protein 2 | |
| Synonyms | C48|Cep215|MCPH3 | |
| Cytomap | 9q33.2 | |
| Type of gene | protein-coding | |
| Description | CDK5 regulatory subunit-associated protein 2CDK5 activator-binding protein C48centrosomal protein 215 kDacentrosomin | |
| Modification date | 20180519 | |
| UniProtAcc | Q96SN8 | |
| Context | PubMed: CDK5RAP2 [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 |
| CDK5RAP2 | GO:0000226 | microtubule cytoskeleton organization | 17959831 |
| CDK5RAP2 | GO:0001578 | microtubule bundle formation | 19553473 |
| CDK5RAP2 | GO:0045893 | positive regulation of transcription, DNA-templated | 19282672 |
| CDK5RAP2 | GO:0090266 | regulation of mitotic cell cycle spindle assembly checkpoint | 19282672 |
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Exon skipping events across known transcript of Ensembl for CDK5RAP2 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 CDK5RAP2 |
| 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 CDK5RAP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506508 | 9 | 123151478:123151570:123152018:123152065:123156789:123156916 | 123152018:123152065 | ENSG00000136861.13 | ENST00000433194.2,ENST00000416449.1,ENST00000484546.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000360190.4,ENST00000480467.1,ENST00000349780.4,ENST00000474262.1,ENST00000425647.1 |
| exon_skip_506513 | 9 | 123165083:123165349:123166313:123166391:123169289:123169524 | 123166313:123166391 | ENSG00000136861.13 | ENST00000416449.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000349780.4,ENST00000425647.1 |
| exon_skip_506514 | 9 | 123165083:123165349:123166313:123166391:123170624:123170746 | 123166313:123166391 | ENSG00000136861.13 | ENST00000360190.4 |
| exon_skip_506519 | 9 | 123166313:123166391:123169289:123169526:123170624:123170746 | 123169289:123169526 | ENSG00000136861.13 | ENST00000416449.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000349780.4,ENST00000425647.1 |
| exon_skip_506520 | 9 | 123171404:123171594:123173635:123173752:123177317:123177437 | 123173635:123173752 | ENSG00000136861.13 | ENST00000483412.1,ENST00000416449.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000360190.4,ENST00000349780.4,ENST00000425647.1 |
| exon_skip_506522 | 9 | 123182065:123182238:123184970:123185019:123199572:123199805 | 123184970:123185019 | ENSG00000136861.13 | ENST00000483412.1,ENST00000416449.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000360190.4,ENST00000349780.4,ENST00000425647.1 |
| exon_skip_506526 | 9 | 123184970:123185019:123199572:123199805:123201676:123202250 | 123199572:123199805 | ENSG00000136861.13 | ENST00000483412.1,ENST00000416449.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000360190.4,ENST00000349780.4,ENST00000425647.1 |
| exon_skip_506528 | 9 | 123202067:123202250:123205897:123206020:123210172:123210350 | 123205897:123206020 | ENSG00000136861.13 | ENST00000483412.1,ENST00000479584.1,ENST00000416449.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000360190.4,ENST00000349780.4 |
| exon_skip_506529 | 9 | 123202067:123202250:123210172:123210404:123215733:123216151 | 123210172:123210404 | ENSG00000136861.13 | ENST00000359309.3 |
| exon_skip_506532 | 9 | 123210172:123210404:123215733:123216151:123220727:123220800 | 123215733:123216151 | ENSG00000136861.13 | ENST00000483412.1,ENST00000416449.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000360190.4,ENST00000349780.4 |
| exon_skip_506534 | 9 | 123220727:123220900:123222849:123222945:123230137:123230275 | 123222849:123222945 | ENSG00000136861.13 | ENST00000359309.3,ENST00000360190.4,ENST00000349780.4 |
| exon_skip_506535 | 9 | 123220727:123220900:123222849:123223025:123230137:123230275 | 123222849:123223025 | ENSG00000136861.13 | ENST00000480112.1,ENST00000473282.2 |
| exon_skip_506537 | 9 | 123230137:123230275:123232388:123232498:123234025:123234140 | 123232388:123232498 | ENSG00000136861.13 | ENST00000483412.1,ENST00000416449.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000360190.4,ENST00000349780.4 |
| exon_skip_506540 | 9 | 123253584:123253755:123280034:123280164:123280704:123280923 | 123280034:123280164 | ENSG00000136861.13 | ENST00000473282.2 |
| exon_skip_506542 | 9 | 123280877:123280923:123287263:123287356:123290083:123290203 | 123287263:123287356 | ENSG00000136861.13 | ENST00000483412.1,ENST00000360822.3,ENST00000482047.1,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000360190.4,ENST00000349780.4 |
| exon_skip_506544 | 9 | 123291021:123291075:123292255:123292418:123298649:123298715 | 123292255:123292418 | ENSG00000136861.13 | ENST00000483412.1,ENST00000360822.3,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000360190.4,ENST00000349780.4 |
| exon_skip_506545 | 9 | 123307991:123308068:123313069:123313180:123330598:123330666 | 123313069:123313180 | ENSG00000136861.13 | ENST00000360822.3,ENST00000481266.1,ENST00000480112.1,ENST00000473282.2,ENST00000359309.3,ENST00000360190.4,ENST00000349780.4 |
| exon_skip_506547 | 9 | 123330598:123330666:123334251:123334319:123342197:123342283 | 123334251:123334319 | ENSG00000136861.13 | ENST00000481266.1,ENST00000359309.3,ENST00000360190.4,ENST00000349780.4 |
| exon_skip_506548 | 9 | 123330598:123330666:123334254:123334319:123342197:123342283 | 123334254:123334319 | ENSG00000136861.13 | ENST00000480112.1,ENST00000473282.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CDK5RAP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_506508 | 9 | 123151478:123151570:123152018:123152065:123156789:123156916 | 123152018:123152065 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000360190.4,ENST00000474262.1,ENST00000473282.2,ENST00000480112.1,ENST00000416449.1,ENST00000433194.2,ENST00000480467.1,ENST00000484546.1,ENST00000425647.1 |
| exon_skip_506513 | 9 | 123165083:123165349:123166313:123166391:123169289:123169524 | 123166313:123166391 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000473282.2,ENST00000480112.1,ENST00000416449.1,ENST00000425647.1 |
| exon_skip_506514 | 9 | 123165083:123165349:123166313:123166391:123170624:123170746 | 123166313:123166391 | ENSG00000136861.13 | ENST00000360190.4 |
| exon_skip_506519 | 9 | 123166313:123166391:123169289:123169526:123170624:123170746 | 123169289:123169526 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000473282.2,ENST00000480112.1,ENST00000416449.1,ENST00000425647.1 |
| exon_skip_506520 | 9 | 123171404:123171594:123173635:123173752:123177317:123177437 | 123173635:123173752 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000360190.4,ENST00000473282.2,ENST00000480112.1,ENST00000416449.1,ENST00000425647.1,ENST00000483412.1 |
| exon_skip_506522 | 9 | 123182065:123182238:123184970:123185019:123199572:123199805 | 123184970:123185019 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000360190.4,ENST00000473282.2,ENST00000480112.1,ENST00000416449.1,ENST00000425647.1,ENST00000483412.1 |
| exon_skip_506526 | 9 | 123184970:123185019:123199572:123199805:123201676:123202250 | 123199572:123199805 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000360190.4,ENST00000473282.2,ENST00000480112.1,ENST00000416449.1,ENST00000425647.1,ENST00000483412.1 |
| exon_skip_506528 | 9 | 123202067:123202250:123205897:123206020:123210172:123210350 | 123205897:123206020 | ENSG00000136861.13 | ENST00000360822.3,ENST00000349780.4,ENST00000360190.4,ENST00000473282.2,ENST00000480112.1,ENST00000416449.1,ENST00000483412.1,ENST00000479584.1 |
| exon_skip_506529 | 9 | 123202067:123202250:123210172:123210404:123215733:123216151 | 123210172:123210404 | ENSG00000136861.13 | ENST00000359309.3 |
| exon_skip_506532 | 9 | 123210172:123210404:123215733:123216151:123220727:123220800 | 123215733:123216151 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000360190.4,ENST00000473282.2,ENST00000480112.1,ENST00000416449.1,ENST00000483412.1 |
| exon_skip_506534 | 9 | 123220727:123220900:123222849:123222945:123230137:123230275 | 123222849:123222945 | ENSG00000136861.13 | ENST00000359309.3,ENST00000349780.4,ENST00000360190.4 |
| exon_skip_506535 | 9 | 123220727:123220900:123222849:123223025:123230137:123230275 | 123222849:123223025 | ENSG00000136861.13 | ENST00000473282.2,ENST00000480112.1 |
| exon_skip_506537 | 9 | 123230137:123230275:123232388:123232498:123234025:123234140 | 123232388:123232498 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000360190.4,ENST00000473282.2,ENST00000480112.1,ENST00000416449.1,ENST00000483412.1 |
| exon_skip_506540 | 9 | 123253584:123253755:123280034:123280164:123280704:123280923 | 123280034:123280164 | ENSG00000136861.13 | ENST00000473282.2 |
| exon_skip_506544 | 9 | 123291021:123291075:123292255:123292418:123298649:123298715 | 123292255:123292418 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000360190.4,ENST00000473282.2,ENST00000480112.1,ENST00000483412.1 |
| exon_skip_506545 | 9 | 123307991:123308068:123313069:123313180:123330598:123330666 | 123313069:123313180 | ENSG00000136861.13 | ENST00000360822.3,ENST00000359309.3,ENST00000349780.4,ENST00000360190.4,ENST00000473282.2,ENST00000480112.1,ENST00000481266.1 |
| exon_skip_506547 | 9 | 123330598:123330666:123334251:123334319:123342197:123342283 | 123334251:123334319 | ENSG00000136861.13 | ENST00000359309.3,ENST00000349780.4,ENST00000360190.4,ENST00000481266.1 |
| exon_skip_506548 | 9 | 123330598:123330666:123334254:123334319:123342197:123342283 | 123334254:123334319 | ENSG00000136861.13 | ENST00000473282.2,ENST00000480112.1 |
| 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 CDK5RAP2 |
| 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 |
| ENST00000349780 | 123152018 | 123152065 | Frame-shift |
| ENST00000349780 | 123184970 | 123185019 | Frame-shift |
| ENST00000349780 | 123199572 | 123199805 | Frame-shift |
| ENST00000349780 | 123215733 | 123216151 | Frame-shift |
| ENST00000349780 | 123232388 | 123232498 | Frame-shift |
| ENST00000349780 | 123292255 | 123292418 | Frame-shift |
| ENST00000349780 | 123334251 | 123334319 | Frame-shift |
| ENST00000349780 | 123166313 | 123166391 | In-frame |
| ENST00000349780 | 123169289 | 123169526 | In-frame |
| ENST00000349780 | 123173635 | 123173752 | In-frame |
| ENST00000349780 | 123205897 | 123206020 | In-frame |
| ENST00000349780 | 123222849 | 123222945 | In-frame |
| ENST00000349780 | 123287263 | 123287356 | In-frame |
| ENST00000349780 | 123313069 | 123313180 | 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 |
| ENST00000349780 | 123152018 | 123152065 | Frame-shift |
| ENST00000349780 | 123184970 | 123185019 | Frame-shift |
| ENST00000349780 | 123199572 | 123199805 | Frame-shift |
| ENST00000349780 | 123215733 | 123216151 | Frame-shift |
| ENST00000349780 | 123232388 | 123232498 | Frame-shift |
| ENST00000349780 | 123292255 | 123292418 | Frame-shift |
| ENST00000349780 | 123334251 | 123334319 | Frame-shift |
| ENST00000349780 | 123166313 | 123166391 | In-frame |
| ENST00000349780 | 123169289 | 123169526 | In-frame |
| ENST00000349780 | 123173635 | 123173752 | In-frame |
| ENST00000349780 | 123205897 | 123206020 | In-frame |
| ENST00000349780 | 123222849 | 123222945 | In-frame |
| ENST00000349780 | 123313069 | 123313180 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CDK5RAP2 |
| 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 |
| ENST00000349780 | 6245 | 1893 | 123313069 | 123313180 | 376 | 486 | 65 | 102 |
| ENST00000349780 | 6245 | 1893 | 123287263 | 123287356 | 1180 | 1272 | 333 | 364 |
| ENST00000349780 | 6245 | 1893 | 123222849 | 123222945 | 2287 | 2382 | 702 | 734 |
| ENST00000349780 | 6245 | 1893 | 123205897 | 123206020 | 3206 | 3328 | 1008 | 1049 |
| ENST00000349780 | 6245 | 1893 | 123173635 | 123173752 | 4478 | 4594 | 1432 | 1471 |
| ENST00000349780 | 6245 | 1893 | 123169289 | 123169526 | 4907 | 5143 | 1575 | 1654 |
| ENST00000349780 | 6245 | 1893 | 123166313 | 123166391 | 5144 | 5221 | 1654 | 1680 |
| 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 |
| ENST00000349780 | 6245 | 1893 | 123313069 | 123313180 | 376 | 486 | 65 | 102 |
| ENST00000349780 | 6245 | 1893 | 123222849 | 123222945 | 2287 | 2382 | 702 | 734 |
| ENST00000349780 | 6245 | 1893 | 123205897 | 123206020 | 3206 | 3328 | 1008 | 1049 |
| ENST00000349780 | 6245 | 1893 | 123173635 | 123173752 | 4478 | 4594 | 1432 | 1471 |
| ENST00000349780 | 6245 | 1893 | 123169289 | 123169526 | 4907 | 5143 | 1575 | 1654 |
| ENST00000349780 | 6245 | 1893 | 123166313 | 123166391 | 5144 | 5221 | 1654 | 1680 |
| 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 CDK5RAP2 |
| - 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. |
CDK5RAP2_ESCA_exon_skip_506535_psi_boxplot.png |
| - 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_506508 | 123152019 | 123152065 | 123152026 | 123152026 | Frame_Shift_Del | T | - | p.N1873fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_506508 | 123152019 | 123152065 | 123152048 | 123152048 | Frame_Shift_Del | T | - | p.I1866fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_506519 | 123169290 | 123169526 | 123169393 | 123169394 | Frame_Shift_Del | CT | - | p.K1620fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_506526 | 123199573 | 123199805 | 123199580 | 123199580 | Frame_Shift_Del | A | - | p.F1316fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_506526 | 123199573 | 123199805 | 123199635 | 123199635 | Frame_Shift_Del | A | - | p.F1298fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_506526 | 123199573 | 123199805 | 123199783 | 123199783 | Frame_Shift_Del | G | - | p.Q1249fs |
| COAD | TCGA-AD-5900-01 | exon_skip_506528 | 123205898 | 123206020 | 123206011 | 123206011 | Frame_Shift_Del | G | - | p.P1012fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_506529 | 123210173 | 123210404 | 123210278 | 123210278 | Frame_Shift_Del | C | - | p.E974fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_506532 | 123215734 | 123216151 | 123216060 | 123216060 | Frame_Shift_Del | T | - | p.T823fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_506537 | 123232389 | 123232498 | 123232412 | 123232412 | Frame_Shift_Del | A | - | p.S649fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_506542 | 123287264 | 123287356 | 123287275 | 123287275 | Frame_Shift_Del | G | - | p.Q361fs |
| HNSC | TCGA-BA-A6DA-01 | exon_skip_506529 | 123210173 | 123210404 | 123210239 | 123210239 | Nonsense_Mutation | G | A | p.Q987* |
| THCA | TCGA-DJ-A3V6-01 | exon_skip_506529 | 123210173 | 123210404 | 123210305 | 123210305 | Nonsense_Mutation | G | A | p.Q965* |
| UCEC | TCGA-AP-A059-01 | exon_skip_506529 | 123210173 | 123210404 | 123210353 | 123210353 | Nonsense_Mutation | C | A | p.G949* |
| KIRC | TCGA-A3-3363-01 | exon_skip_506532 | 123215734 | 123216151 | 123215772 | 123215772 | Nonsense_Mutation | G | A | p.Q919* |
| THYM | TCGA-X7-A8DF-01 | exon_skip_506532 | 123215734 | 123216151 | 123215773 | 123215773 | Nonsense_Mutation | C | T | p.W918X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_506537 | 123232389 | 123232498 | 123232496 | 123232496 | Nonsense_Mutation | C | A | p.E621* |
| STAD | TCGA-BR-8680-01 | exon_skip_506532 | 123215734 | 123216151 | 123215733 | 123215733 | Splice_Site | C | T | . |
| STAD | TCGA-BR-8680-01 | exon_skip_506532 | 123215734 | 123216151 | 123215733 | 123215733 | Splice_Site | C | T | p.R931_splice |
| KIRC | TCGA-CJ-4918-01 | exon_skip_506534 | 123222850 | 123222945 | 123222946 | 123222946 | Splice_Site | C | T | . |
| ESCA | TCGA-JY-A6FH-01 | exon_skip_506535 | 123222850 | 123223025 | 123223027 | 123223027 | Splice_Site | T | - | e19-2 |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_506535 | 123222850 | 123223025 | 123223027 | 123223028 | Splice_Site | TT | - | e19-2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-JY-A6FH-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_506535 | |
| Skipped exon start: 123222850 | |
| Skipped exon end: 123223025 | |
| Mutation start: 123223027 | |
| Mutation end: 123223027 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: e19-2 | |
exon_skip_136502_ESCA_TCGA-JY-A6FH-01.png | |
exon_skip_370946_ESCA_TCGA-JY-A6FH-01.png | |
exon_skip_506535_ESCA_TCGA-JY-A6FH-01.png | |
 | Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_506535 | |
| Skipped exon start: 123222850 | |
| Skipped exon end: 123223025 | |
| Mutation start: 123223027 | |
| Mutation end: 123223028 | |
| Mutation type: Splice_Site | |
| Reference seq: TT | |
| Mutation seq: - | |
| AAchange: e19-2 | |
exon_skip_112640_ESCA_TCGA-L5-A4OI-01.png | |
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exon_skip_461524_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_470470_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_470694_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_474097_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_477308_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_487634_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_495456_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_502537_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_506535_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_55351_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_77217_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_91288_ESCA_TCGA-L5-A4OI-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 |
| HEC59_ENDOMETRIUM | 123169290 | 123169526 | 123169374 | 123169374 | Frame_Shift_Del | C | - | p.A1627fs |
| KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123166314 | 123166391 | 123166370 | 123166370 | Missense_Mutation | T | G | p.E1662A |
| GP2D_LARGE_INTESTINE | 123169290 | 123169526 | 123169313 | 123169313 | Missense_Mutation | A | G | p.V1647A |
| GP5D_LARGE_INTESTINE | 123169290 | 123169526 | 123169313 | 123169313 | Missense_Mutation | A | G | p.V1647A |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123169290 | 123169526 | 123169326 | 123169326 | Missense_Mutation | A | G | p.S1643P |
| LS411N_LARGE_INTESTINE | 123169290 | 123169526 | 123169329 | 123169329 | Missense_Mutation | C | T | p.V1642M |
| NCIH1838_LUNG | 123169290 | 123169526 | 123169344 | 123169344 | Missense_Mutation | G | T | p.L1637M |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123169290 | 123169526 | 123169374 | 123169374 | Missense_Mutation | C | T | p.A1627T |
| NCIH650_LUNG | 123169290 | 123169526 | 123169403 | 123169403 | Missense_Mutation | C | T | p.S1617N |
| DU145_PROSTATE | 123169290 | 123169526 | 123169439 | 123169439 | Missense_Mutation | A | G | p.L1605P |
| OE19_OESOPHAGUS | 123173636 | 123173752 | 123173657 | 123173657 | Missense_Mutation | T | C | p.M1465V |
| MZ7MEL_SKIN | 123173636 | 123173752 | 123173686 | 123173686 | Missense_Mutation | A | G | p.L1455S |
| HCC2450_LUNG | 123173636 | 123173752 | 123173708 | 123173708 | Missense_Mutation | G | C | p.L1448V |
| LCLC103H_LUNG | 123184971 | 123185019 | 123185007 | 123185007 | Missense_Mutation | C | A | p.G1323V |
| HCC15_LUNG | 123199573 | 123199805 | 123199611 | 123199611 | Missense_Mutation | G | A | p.A1306V |
| CAL51_BREAST | 123199573 | 123199805 | 123199699 | 123199699 | Missense_Mutation | T | A | p.M1277L |
| NCIH64_LUNG | 123199573 | 123199805 | 123199719 | 123199719 | Missense_Mutation | G | A | p.S1270F |
| SW837_LARGE_INTESTINE | 123205898 | 123206020 | 123205960 | 123205960 | Missense_Mutation | G | C | p.T1029S |
| HEC1A_ENDOMETRIUM | 123205898 | 123206020 | 123206000 | 123206000 | Missense_Mutation | C | T | p.A1016T |
| HEC1_ENDOMETRIUM | 123210173 | 123210404 | 123210218 | 123210218 | Missense_Mutation | C | T | p.A994T |
| NCIH2009_LUNG | 123210173 | 123210404 | 123210314 | 123210314 | Missense_Mutation | T | A | p.T962S |
| AN3CA_ENDOMETRIUM | 123210173 | 123210404 | 123210388 | 123210388 | Missense_Mutation | C | T | p.R937H |
| YD8_UPPER_AERODIGESTIVE_TRACT | 123215734 | 123216151 | 123215751 | 123215751 | Missense_Mutation | G | A | p.P926S |
| PLCPRF5_LIVER | 123215734 | 123216151 | 123215778 | 123215778 | Missense_Mutation | C | G | p.G917R |
| EN_ENDOMETRIUM | 123215734 | 123216151 | 123215832 | 123215832 | Missense_Mutation | T | A | p.I899F |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123215734 | 123216151 | 123215834 | 123215834 | Missense_Mutation | G | A | p.P898L |
| HT115_LARGE_INTESTINE | 123215734 | 123216151 | 123215886 | 123215886 | Missense_Mutation | C | T | p.D881N |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123215734 | 123216151 | 123215886 | 123215886 | Missense_Mutation | C | T | p.D881N |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 123215734 | 123216151 | 123215894 | 123215894 | Missense_Mutation | G | A | p.T878M |
| JHUEM7_ENDOMETRIUM | 123215734 | 123216151 | 123216107 | 123216107 | Missense_Mutation | A | G | p.L807P |
| NCIH1355_LUNG | 123215734 | 123216151 | 123216113 | 123216113 | Missense_Mutation | C | G | p.G805A |
| NCIH847_LUNG | 123222850 | 123222945 | 123222894 | 123222894 | Missense_Mutation | C | T | p.E720K |
| NCIH847_LUNG | 123222850 | 123223025 | 123222894 | 123222894 | Missense_Mutation | C | T | p.E720K |
| HEC265_ENDOMETRIUM | 123222850 | 123222945 | 123222911 | 123222911 | Missense_Mutation | T | C | p.K714R |
| HEC265_ENDOMETRIUM | 123222850 | 123223025 | 123222911 | 123222911 | Missense_Mutation | T | C | p.K714R |
| PK1_PANCREAS | 123222850 | 123222945 | 123222921 | 123222921 | Missense_Mutation | C | T | p.D711N |
| PK1_PANCREAS | 123222850 | 123223025 | 123222921 | 123222921 | Missense_Mutation | C | T | p.D711N |
| PK1_PANCREAS | 123222850 | 123222945 | 123222924 | 123222924 | Missense_Mutation | C | T | p.E710K |
| PK1_PANCREAS | 123222850 | 123223025 | 123222924 | 123222924 | Missense_Mutation | C | T | p.E710K |
| NCIH2172_LUNG | 123232389 | 123232498 | 123232432 | 123232432 | Missense_Mutation | C | T | p.R642Q |
| OC316_OVARY | 123232389 | 123232498 | 123232450 | 123232450 | Missense_Mutation | C | T | p.C636Y |
| OC314_OVARY | 123232389 | 123232498 | 123232450 | 123232450 | Missense_Mutation | C | T | p.C636Y |
| QIMRWIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123287264 | 123287356 | 123287327 | 123287327 | Missense_Mutation | C | G | p.K343N |
| IGR39_SKIN | 123292256 | 123292418 | 123292264 | 123292264 | Missense_Mutation | C | T | p.E273K |
| IGR37_SKIN | 123292256 | 123292418 | 123292264 | 123292264 | Missense_Mutation | C | T | p.E273K |
| NCIH1793_LUNG | 123292256 | 123292418 | 123292354 | 123292354 | Missense_Mutation | C | T | p.E243K |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123292256 | 123292418 | 123292375 | 123292375 | Missense_Mutation | A | C | p.L236V |
| HCC2998_LARGE_INTESTINE | 123313070 | 123313180 | 123313116 | 123313116 | Missense_Mutation | C | A | p.R87I |
| HT115_LARGE_INTESTINE | 123313070 | 123313180 | 123313176 | 123313176 | Missense_Mutation | A | G | p.I67T |
| NCIH146_LUNG | 123334252 | 123334319 | 123334270 | 123334270 | Missense_Mutation | C | T | p.A37T |
| NCIH146_LUNG | 123334255 | 123334319 | 123334270 | 123334270 | Missense_Mutation | C | T | p.A37T |
| JHUEM7_ENDOMETRIUM | 123199573 | 123199805 | 123199652 | 123199652 | Nonsense_Mutation | G | T | p.Y1292* |
| NCIH889_LUNG | 123184971 | 123185019 | 123184971 | 123184971 | Splice_Site | C | G | p.R1335T |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDK5RAP2 |
| 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 CDK5RAP2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDK5RAP2 |
Top |
RelatedDrugs for CDK5RAP2 |
| 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 |
Top |
RelatedDiseases for CDK5RAP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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