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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 RAD23A |
Gene summary |
| Gene information | Gene symbol | RAD23A | Gene ID | 5886 |
| Gene name | RAD23 homolog A, nucleotide excision repair protein | |
| Synonyms | HHR23A|HR23A | |
| Cytomap | 19p13.13 | |
| Type of gene | protein-coding | |
| Description | UV excision repair protein RAD23 homolog ARAD23, yeast homolog, A | |
| Modification date | 20180523 | |
| UniProtAcc | P54725 | |
| Context | PubMed: RAD23A [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 |
| RAD23A | GO:0006289 | nucleotide-excision repair | 9372924 |
| RAD23A | GO:0032434 | regulation of proteasomal ubiquitin-dependent protein catabolic process | 12643283 |
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Exon skipping events across known transcript of Ensembl for RAD23A 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 RAD23A |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RAD23A |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_302733 | 19 | 13058661:13058823:13058990:13059172:13059310:13059366 | 13058990:13059172 | ENSG00000179262.5 | ENST00000316856.3,ENST00000588329.1,ENST00000588826.2,ENST00000592268.1,ENST00000586534.1 |
| exon_skip_302734 | 19 | 13058667:13058823:13058990:13059172:13059499:13059627 | 13058990:13059172 | ENSG00000179262.5 | ENST00000541222.1,ENST00000591499.1 |
| exon_skip_302739 | 19 | 13059153:13059172:13059310:13059366:13059499:13059627 | 13059310:13059366 | ENSG00000179262.5 | ENST00000316856.3,ENST00000588329.1,ENST00000588826.2,ENST00000592268.1,ENST00000586534.1 |
| exon_skip_302741 | 19 | 13059153:13059172:13059327:13059366:13059499:13059627 | 13059327:13059366 | ENSG00000179262.5 | ENST00000593114.1 |
| exon_skip_302752 | 19 | 13059502:13059627:13059894:13059973:13060088:13060222 | 13059894:13059973 | ENSG00000179262.5 | ENST00000541222.1,ENST00000592268.1,ENST00000591499.1,ENST00000586534.1 |
| exon_skip_302753 | 19 | 13059502:13059627:13059894:13059973:13060091:13060096 | 13059894:13059973 | ENSG00000179262.5 | ENST00000316856.3,ENST00000593114.1,ENST00000588826.2 |
| exon_skip_302756 | 19 | 13059502:13059627:13060088:13060222:13063502:13063634 | 13060088:13060222 | ENSG00000179262.5 | ENST00000586375.1 |
| exon_skip_302766 | 19 | 13060091:13060222:13063502:13063634:13063749:13063804 | 13063502:13063634 | ENSG00000179262.5 | ENST00000590881.1 |
| exon_skip_302767 | 19 | 13060091:13060222:13063502:13063667:13063749:13063804 | 13063502:13063667 | ENSG00000179262.5 | ENST00000541222.1,ENST00000586375.1,ENST00000316856.3,ENST00000593114.1,ENST00000591499.1,ENST00000586534.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RAD23A |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_302733 | 19 | 13058661:13058823:13058990:13059172:13059310:13059366 | 13058990:13059172 | ENSG00000179262.5 | ENST00000588329.1,ENST00000316856.3,ENST00000586534.1,ENST00000592268.1,ENST00000588826.2 |
| exon_skip_302734 | 19 | 13058667:13058823:13058990:13059172:13059499:13059627 | 13058990:13059172 | ENSG00000179262.5 | ENST00000591499.1,ENST00000541222.1 |
| exon_skip_302739 | 19 | 13059153:13059172:13059310:13059366:13059499:13059627 | 13059310:13059366 | ENSG00000179262.5 | ENST00000588329.1,ENST00000316856.3,ENST00000586534.1,ENST00000592268.1,ENST00000588826.2 |
| exon_skip_302741 | 19 | 13059153:13059172:13059327:13059366:13059499:13059627 | 13059327:13059366 | ENSG00000179262.5 | ENST00000593114.1 |
| exon_skip_302752 | 19 | 13059502:13059627:13059894:13059973:13060088:13060222 | 13059894:13059973 | ENSG00000179262.5 | ENST00000591499.1,ENST00000541222.1,ENST00000586534.1,ENST00000592268.1 |
| exon_skip_302753 | 19 | 13059502:13059627:13059894:13059973:13060091:13060096 | 13059894:13059973 | ENSG00000179262.5 | ENST00000316856.3,ENST00000593114.1,ENST00000588826.2 |
| exon_skip_302756 | 19 | 13059502:13059627:13060088:13060222:13063502:13063634 | 13060088:13060222 | ENSG00000179262.5 | ENST00000586375.1 |
| exon_skip_302766 | 19 | 13060091:13060222:13063502:13063634:13063749:13063804 | 13063502:13063634 | ENSG00000179262.5 | ENST00000590881.1 |
| exon_skip_302767 | 19 | 13060091:13060222:13063502:13063667:13063749:13063804 | 13063502:13063667 | ENSG00000179262.5 | ENST00000591499.1,ENST00000541222.1,ENST00000316856.3,ENST00000586534.1,ENST00000593114.1,ENST00000586375.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RAD23A |
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 |
| ENST00000586534 | 13058990 | 13059172 | Frame-shift |
| ENST00000586534 | 13059310 | 13059366 | Frame-shift |
| ENST00000586534 | 13059894 | 13059973 | Frame-shift |
| ENST00000586534 | 13063502 | 13063667 | 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 |
| ENST00000586534 | 13058990 | 13059172 | Frame-shift |
| ENST00000586534 | 13059310 | 13059366 | Frame-shift |
| ENST00000586534 | 13059894 | 13059973 | Frame-shift |
| ENST00000586534 | 13063502 | 13063667 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RAD23A |
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 |
| ENST00000586534 | 1763 | 363 | 13063502 | 13063667 | 875 | 1039 | 271 | 326 |
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 |
| ENST00000586534 | 1763 | 363 | 13063502 | 13063667 | 875 | 1039 | 271 | 326 |
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 |
| P54725 | 271 | 326 | 272 | 326 | Alternative sequence | ID=VSP_047565;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| P54725 | 271 | 326 | 298 | 301 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OQY |
| P54725 | 271 | 326 | 1 | 363 | Chain | ID=PRO_0000114904;Note=UV excision repair protein RAD23 homolog A |
| P54725 | 271 | 326 | 318 | 358 | Domain | Note=UBA 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00212 |
| P54725 | 271 | 326 | 267 | 285 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OQY |
| P54725 | 271 | 326 | 321 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DV0 |
| P54725 | 271 | 326 | 295 | 295 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569 |
| P54725 | 271 | 326 | 319 | 363 | Region | Note=HIV-1 vpr binding |
| P54725 | 271 | 326 | 318 | 320 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OQY |
| P54725 | 271 | 326 | 325 | 331 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DV0 |
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 |
| P54725 | 271 | 326 | 272 | 326 | Alternative sequence | ID=VSP_047565;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| P54725 | 271 | 326 | 298 | 301 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OQY |
| P54725 | 271 | 326 | 1 | 363 | Chain | ID=PRO_0000114904;Note=UV excision repair protein RAD23 homolog A |
| P54725 | 271 | 326 | 318 | 358 | Domain | Note=UBA 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00212 |
| P54725 | 271 | 326 | 267 | 285 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OQY |
| P54725 | 271 | 326 | 321 | 324 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DV0 |
| P54725 | 271 | 326 | 295 | 295 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569 |
| P54725 | 271 | 326 | 319 | 363 | Region | Note=HIV-1 vpr binding |
| P54725 | 271 | 326 | 318 | 320 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1OQY |
| P54725 | 271 | 326 | 325 | 331 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DV0 |
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SNVs in the skipped exons for RAD23A |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_302734 exon_skip_302733 | 13058991 | 13059172 | 13059043 | 13059043 | Frame_Shift_Del | C | - | p.A96fs |
| STAD | TCGA-CG-5733-01 | exon_skip_302734 exon_skip_302733 | 13058991 | 13059172 | 13059096 | 13059096 | Frame_Shift_Del | C | - | p.H113fs |
| KIRP | TCGA-MH-A856-01 | exon_skip_302756 | 13060089 | 13060222 | 13060221 | 13060221 | Frame_Shift_Del | A | - | p.Q271fs |
| BRCA | TCGA-AR-A256-01 | exon_skip_302739 exon_skip_302741 | 13059311 | 13059366 | 13059325 | 13059325 | Nonsense_Mutation | C | G | p.S144* |
| BLCA | TCGA-ZF-AA4X-01 | exon_skip_302756 | 13060089 | 13060222 | 13060211 | 13060211 | Nonsense_Mutation | C | T | p.Q268* |
| SKCM | TCGA-EE-A2MD-06 | exon_skip_302734 exon_skip_302733 | 13058991 | 13059172 | 13058990 | 13058990 | Splice_Site | G | A | . |
| UCEC | TCGA-D1-A17R-01 | exon_skip_302756 | 13060089 | 13060222 | 13060223 | 13060223 | Splice_Site | G | C | e7+1 |
| UCEC | TCGA-D1-A17R-01 | exon_skip_302756 | 13060089 | 13060222 | 13060223 | 13060223 | Splice_Site | G | C | p.Q271_splice |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| EN_ENDOMETRIUM | 13060089 | 13060222 | 13060098 | 13060099 | Frame_Shift_Ins | - | C | p.NP230fs |
| CP66EBV_MATCHED_NORMAL_TISSUE | 13059311 | 13059366 | 13059330 | 13059332 | In_Frame_Del | AGC | - | p.S147del |
| CP66EBV_MATCHED_NORMAL_TISSUE | 13059328 | 13059366 | 13059330 | 13059332 | In_Frame_Del | AGC | - | p.S147del |
| KP1N_PANCREAS | 13058991 | 13059172 | 13059092 | 13059093 | In_Frame_Ins | - | CAT | p.113_113H>HH |
| TUHR14TKB_KIDNEY | 13058991 | 13059172 | 13059054 | 13059054 | Missense_Mutation | T | G | p.S100A |
| HUH7_LIVER | 13058991 | 13059172 | 13059054 | 13059054 | Missense_Mutation | T | G | p.S100A |
| KYSE410_OESOPHAGUS | 13058991 | 13059172 | 13059098 | 13059099 | Missense_Mutation | CC | TT | p.P115S |
| KYSE410_OESOPHAGUS | 13058991 | 13059172 | 13059099 | 13059099 | Missense_Mutation | C | T | p.P115S |
| NCIH2461_PLEURA | 13059311 | 13059366 | 13059355 | 13059355 | Missense_Mutation | C | T | p.A154V |
| NCIH2461_PLEURA | 13059328 | 13059366 | 13059355 | 13059355 | Missense_Mutation | C | T | p.A154V |
| HT115_LARGE_INTESTINE | 13060089 | 13060222 | 13060096 | 13060096 | Missense_Mutation | G | T | p.E229D |
| NCIH1436_LUNG | 13060089 | 13060222 | 13060139 | 13060139 | Missense_Mutation | A | G | p.M244V |
| RL952_ENDOMETRIUM | 13060089 | 13060222 | 13060164 | 13060164 | Missense_Mutation | C | A | p.P252H |
| RL952_ENDOMETRIUM | 13063503 | 13063667 | 13063510 | 13063510 | Missense_Mutation | G | A | p.S274N |
| RL952_ENDOMETRIUM | 13063503 | 13063634 | 13063510 | 13063510 | Missense_Mutation | G | A | p.S274N |
| JHH5_LIVER | 13063503 | 13063667 | 13063557 | 13063557 | Missense_Mutation | G | A | p.E290K |
| JHH5_LIVER | 13063503 | 13063634 | 13063557 | 13063557 | Missense_Mutation | G | A | p.E290K |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13063503 | 13063667 | 13063564 | 13063564 | Missense_Mutation | C | T | p.A292V |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13063503 | 13063634 | 13063564 | 13063564 | Missense_Mutation | C | T | p.A292V |
| NCC010_KIDNEY | 13063503 | 13063667 | 13063635 | 13063635 | Missense_Mutation | G | A | p.V316M |
| NCC010_KIDNEY | 13063503 | 13063634 | 13063635 | 13063635 | Missense_Mutation | G | A | p.V316M |
| SNUC2A_LARGE_INTESTINE | 13063503 | 13063667 | 13063639 | 13063639 | Missense_Mutation | C | T | p.T317M |
| SNUC2A_LARGE_INTESTINE | 13063503 | 13063634 | 13063639 | 13063639 | Missense_Mutation | C | T | p.T317M |
| CCK81_LARGE_INTESTINE | 13063503 | 13063667 | 13063639 | 13063639 | Missense_Mutation | C | T | p.T317M |
| CCK81_LARGE_INTESTINE | 13063503 | 13063634 | 13063639 | 13063639 | Missense_Mutation | C | T | p.T317M |
| SNUC2B_LARGE_INTESTINE | 13063503 | 13063667 | 13063639 | 13063639 | Missense_Mutation | C | T | p.T317M |
| SNUC2B_LARGE_INTESTINE | 13063503 | 13063634 | 13063639 | 13063639 | Missense_Mutation | C | T | p.T317M |
| HCT15_LARGE_INTESTINE | 13063503 | 13063667 | 13063648 | 13063648 | Missense_Mutation | A | T | p.E320V |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13063503 | 13063667 | 13063656 | 13063656 | Missense_Mutation | G | A | p.A323T |
| IPC298_SKIN | 13059895 | 13059973 | 13059896 | 13059896 | Splice_Site | G | C | p.G201A |
| HEC251_ENDOMETRIUM | 13059895 | 13059973 | 13059896 | 13059896 | Splice_Site | G | T | p.G201V |
| SNU1040_LARGE_INTESTINE | 13060089 | 13060222 | 13060222 | 13060222 | Splice_Site | G | A | p.Q271Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAD23A |
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 RAD23A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAD23A |
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RelatedDrugs for RAD23A |
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 RAD23A |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RAD23A | C0038356 | Stomach Neoplasms | 1 | CTD_human |