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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 CDK5RAP3 |
 Gene summary |
| Gene information | Gene symbol | CDK5RAP3 | Gene ID | 80279 |
| Gene name | CDK5 regulatory subunit associated protein 3 | |
| Synonyms | C53|HSF-27|IC53|LZAP|MST016|OK/SW-cl.114|PP1553 | |
| Cytomap | 17q21.32 | |
| Type of gene | protein-coding | |
| Description | CDK5 regulatory subunit-associated protein 3CDK5 regulatory subunit associated protein IC53-2LXXLL/leucine-zipper-containing ARF-binding proteinLXXLL/leucine-zipper-containing ARFbinding proteinischemic heart CDK5 activator-binding protein C53 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96JB5 | |
| Context | PubMed: CDK5RAP3 [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 |
| CDK5RAP3 | GO:0008283 | cell proliferation | 12054757 |
| CDK5RAP3 | GO:0031398 | positive regulation of protein ubiquitination | 16173922 |
| CDK5RAP3 | GO:0071569 | protein ufmylation | 23152784 |
| CDK5RAP3 | GO:1900182 | positive regulation of protein localization to nucleus | 16173922 |
| CDK5RAP3 | GO:1901798 | positive regulation of signal transduction by p53 class mediator | 16173922 |
| CDK5RAP3 | GO:1903363 | negative regulation of cellular protein catabolic process | 16173922 |
| CDK5RAP3 | GO:2000060 | positive regulation of ubiquitin-dependent protein catabolic process | 16173922 |
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Exon skipping events across known transcript of Ensembl for CDK5RAP3 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 CDK5RAP3 |
| 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 CDK5RAP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_153733 | 17 | 46052537:46052703:46052879:46053379:46054077:46054137 | 46052879:46053379 | ENSG00000108465.10 | ENST00000584168.1,ENST00000584063.1,ENST00000580287.1 |
| exon_skip_153734 | 17 | 46052879:46053019:46053234:46053379:46054077:46054137 | 46053234:46053379 | ENSG00000108465.10 | ENST00000580391.1,ENST00000584991.1,ENST00000338399.4,ENST00000585163.1,ENST00000536708.2,ENST00000580670.2 |
| exon_skip_153739 | 17 | 46055197:46055276:46056194:46056283:46057958:46058075 | 46056194:46056283 | ENSG00000108465.10 | ENST00000580391.1,ENST00000584991.1,ENST00000584168.1,ENST00000338399.4,ENST00000583697.1,ENST00000585163.1,ENST00000536708.2,ENST00000584063.1,ENST00000580287.1,ENST00000582114.1 |
| exon_skip_153740 | 17 | 46055197:46055276:46056200:46056283:46057958:46058075 | 46056200:46056283 | ENSG00000108465.10 | ENST00000580670.2 |
| exon_skip_153742 | 17 | 46056200:46056283:46057958:46058164:46058528:46058700 | 46057958:46058164 | ENSG00000108465.10 | ENST00000580391.1,ENST00000584991.1,ENST00000584168.1,ENST00000338399.4,ENST00000583697.1,ENST00000585163.1,ENST00000578663.1,ENST00000536708.2,ENST00000580670.2,ENST00000584063.1,ENST00000580287.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CDK5RAP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_153733 | 17 | 46052537:46052703:46052879:46053379:46054077:46054137 | 46052879:46053379 | ENSG00000108465.10 | ENST00000584063.1,ENST00000580287.1,ENST00000584168.1 |
| exon_skip_153734 | 17 | 46052879:46053019:46053234:46053379:46054077:46054137 | 46053234:46053379 | ENSG00000108465.10 | ENST00000536708.2,ENST00000338399.4,ENST00000584991.1,ENST00000585163.1,ENST00000580391.1,ENST00000580670.2 |
| exon_skip_153739 | 17 | 46055197:46055276:46056194:46056283:46057958:46058075 | 46056194:46056283 | ENSG00000108465.10 | ENST00000536708.2,ENST00000338399.4,ENST00000584991.1,ENST00000584063.1,ENST00000585163.1,ENST00000580287.1,ENST00000580391.1,ENST00000584168.1,ENST00000582114.1,ENST00000583697.1 |
| exon_skip_153740 | 17 | 46055197:46055276:46056200:46056283:46057958:46058075 | 46056200:46056283 | ENSG00000108465.10 | ENST00000580670.2 |
| exon_skip_153742 | 17 | 46056200:46056283:46057958:46058164:46058528:46058700 | 46057958:46058164 | ENSG00000108465.10 | ENST00000536708.2,ENST00000338399.4,ENST00000584991.1,ENST00000584063.1,ENST00000585163.1,ENST00000580287.1,ENST00000580391.1,ENST00000584168.1,ENST00000580670.2,ENST00000583697.1,ENST00000578663.1 |
| 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 CDK5RAP3 |
| 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 |
| ENST00000338399 | 46053234 | 46053379 | Frame-shift |
| ENST00000338399 | 46056194 | 46056283 | Frame-shift |
| ENST00000338399 | 46057958 | 46058164 | 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 |
| ENST00000338399 | 46053234 | 46053379 | Frame-shift |
| ENST00000338399 | 46056194 | 46056283 | Frame-shift |
| ENST00000338399 | 46057958 | 46058164 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CDK5RAP3 |
| 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 CDK5RAP3 |
| - 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. |
CDK5RAP3_PAAD_exon_skip_153733_psi_boxplot.png |
CDK5RAP3_STAD_exon_skip_153742_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 |
| PAAD | TCGA-IB-7651-01 | exon_skip_153733 | 46052880 | 46053379 | 46052879 | 46052879 | Splice_Site | G | A | . |
| STAD | TCGA-BR-6452-01 | exon_skip_153742 | 46057959 | 46058164 | 46057957 | 46057957 | Splice_Site | A | T | . |
| STAD | TCGA-BR-6452-01 | exon_skip_153742 | 46057959 | 46058164 | 46057957 | 46057957 | Splice_Site | A | T | p.L360_splice |
| UCEC | TCGA-BS-A0U8-01 | exon_skip_153742 | 46057959 | 46058164 | 46058166 | 46058166 | Splice_Site | T | C | e12+2 |
| UCEC | TCGA-BS-A0U8-01 | exon_skip_153742 | 46057959 | 46058164 | 46058166 | 46058166 | Splice_Site | T | C | p.R448_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BS-A0U8-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_153742 | |
| Skipped exon start: 46057959 | |
| Skipped exon end: 46058164 | |
| Mutation start: 46058166 | |
| Mutation end: 46058166 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: p.R448_splice | |
| Sample: TCGA-BS-A0U8-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_153742 | |
| Skipped exon start: 46057959 | |
| Skipped exon end: 46058164 | |
| Mutation start: 46058166 | |
| Mutation end: 46058166 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: e12+2 | |
exon_skip_153742_UCEC_TCGA-BS-A0U8-01.png | |
exon_skip_300676_UCEC_TCGA-BS-A0U8-01.png | |
 | Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_153733 | |
| Skipped exon start: 46052880 | |
| Skipped exon end: 46053379 | |
| Mutation start: 46052879 | |
| Mutation end: 46052879 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_113241_PAAD_TCGA-IB-7651-01.png | |
exon_skip_115380_PAAD_TCGA-IB-7651-01.png | |
exon_skip_124564_PAAD_TCGA-IB-7651-01.png | |
exon_skip_135806_PAAD_TCGA-IB-7651-01.png | |
exon_skip_139341_PAAD_TCGA-IB-7651-01.png | |
exon_skip_153733_PAAD_TCGA-IB-7651-01.png | |
exon_skip_155805_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18053_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18056_PAAD_TCGA-IB-7651-01.png | |
exon_skip_23067_PAAD_TCGA-IB-7651-01.png | |
exon_skip_287059_PAAD_TCGA-IB-7651-01.png | |
exon_skip_294631_PAAD_TCGA-IB-7651-01.png | |
exon_skip_298512_PAAD_TCGA-IB-7651-01.png | |
exon_skip_306900_PAAD_TCGA-IB-7651-01.png | |
exon_skip_307723_PAAD_TCGA-IB-7651-01.png | |
exon_skip_315960_PAAD_TCGA-IB-7651-01.png | |
exon_skip_324675_PAAD_TCGA-IB-7651-01.png | |
exon_skip_330351_PAAD_TCGA-IB-7651-01.png | |
exon_skip_334330_PAAD_TCGA-IB-7651-01.png | |
exon_skip_341784_PAAD_TCGA-IB-7651-01.png | |
exon_skip_343314_PAAD_TCGA-IB-7651-01.png | |
exon_skip_348329_PAAD_TCGA-IB-7651-01.png | |
exon_skip_354232_PAAD_TCGA-IB-7651-01.png | |
exon_skip_370626_PAAD_TCGA-IB-7651-01.png | |
exon_skip_377740_PAAD_TCGA-IB-7651-01.png | |
exon_skip_385032_PAAD_TCGA-IB-7651-01.png | |
exon_skip_390031_PAAD_TCGA-IB-7651-01.png | |
exon_skip_422548_PAAD_TCGA-IB-7651-01.png | |
exon_skip_424536_PAAD_TCGA-IB-7651-01.png | |
exon_skip_431753_PAAD_TCGA-IB-7651-01.png | |
exon_skip_432982_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435489_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435729_PAAD_TCGA-IB-7651-01.png | |
exon_skip_441705_PAAD_TCGA-IB-7651-01.png | |
exon_skip_448879_PAAD_TCGA-IB-7651-01.png | |
exon_skip_468347_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494000_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494029_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499410_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499695_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499697_PAAD_TCGA-IB-7651-01.png | |
exon_skip_79905_PAAD_TCGA-IB-7651-01.png | |
exon_skip_80096_PAAD_TCGA-IB-7651-01.png | |
exon_skip_95924_PAAD_TCGA-IB-7651-01.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 |
| C33A_CERVIX | 46052880 | 46053379 | 46052953 | 46052953 | Missense_Mutation | C | T | p.A196V |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 46053235 | 46053379 | 46053255 | 46053255 | Missense_Mutation | C | T | p.P225L |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 46052880 | 46053379 | 46053255 | 46053255 | Missense_Mutation | C | T | p.P225L |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46053235 | 46053379 | 46053290 | 46053290 | Missense_Mutation | A | G | p.T237A |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46052880 | 46053379 | 46053290 | 46053290 | Missense_Mutation | A | G | p.T237A |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46053235 | 46053379 | 46053319 | 46053319 | Missense_Mutation | G | T | p.E246D |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46052880 | 46053379 | 46053319 | 46053319 | Missense_Mutation | G | T | p.E246D |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46057959 | 46058164 | 46058041 | 46058041 | Missense_Mutation | C | A | p.P387Q |
| SW684_SOFT_TISSUE | 46057959 | 46058164 | 46058080 | 46058080 | Missense_Mutation | C | T | p.T400I |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46057959 | 46058164 | 46058107 | 46058107 | Missense_Mutation | T | C | p.I409T |
| CHP134_AUTONOMIC_GANGLIA | 46057959 | 46058164 | 46058147 | 46058147 | Missense_Mutation | G | C | p.M422I |
| CW2_LARGE_INTESTINE | 46052880 | 46053379 | 46052892 | 46052892 | Nonsense_Mutation | C | T | p.R176* |
| RKO_LARGE_INTESTINE | 46056195 | 46056283 | 46056260 | 46056260 | Nonsense_Mutation | C | T | p.Q352* |
| RKO_LARGE_INTESTINE | 46056201 | 46056283 | 46056260 | 46056260 | Nonsense_Mutation | C | T | p.Q352* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDK5RAP3 |
| 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 CDK5RAP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDK5RAP3 |
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RelatedDrugs for CDK5RAP3 |
| 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 CDK5RAP3 |
| 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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