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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 RAD17 |
 Gene summary |
| Gene information | Gene symbol | RAD17 | Gene ID | 5884 |
| Gene name | RAD17 checkpoint clamp loader component | |
| Synonyms | CCYC|HRAD17|R24L|RAD17SP|RAD24 | |
| Cytomap | 5q13.2 | |
| Type of gene | protein-coding | |
| Description | cell cycle checkpoint protein RAD17RAD1 homologRAD17 homologRF-C activator 1 homologRad17-like proteincell cycle checkpoint protein (RAD17) | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for RAD17 |
| 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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ENSG00000152942
| 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 |
| CB | UP | ENST00000512785.5 | RAD17-215:protein_coding:RAD17 | 7.744179e-01 | 1.733280e+00 | 8.218778e-03 | 2.958728e-02 |
| CB | DOWN | ENST00000504177.5 | RAD17-209:lncRNA:RAD17 | 2.707157e+00 | -1.477846e+00 | 1.264709e-02 | 4.207598e-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 RAD17 |
| 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_103525 | chr5 | 69371035:69371171:69371454:69371557:69372034:69372054 | 69371454:69371557 |
| exon_skip_145507 | chr5 | 69370246:69370284:69371035:69371171:69372034:69372054 | 69371035:69371171 |
| exon_skip_1645 | chr5 | 69371454:69371557:69372034:69372217:69373830:69373882 | 69372034:69372217 |
| exon_skip_18807 | chr5 | 69371084:69371171:69371454:69371557:69373830:69373882 | 69371454:69371557 |
| exon_skip_194785 | chr5 | 69371084:69371171:69372034:69372217:69373830:69373882 | 69372034:69372217 |
| exon_skip_205773 | chr5 | 69371035:69371171:69372034:69372217:69373830:69374087 | 69372034:69372217 |
| exon_skip_229372 | chr5 | 69371084:69371171:69371454:69371557:69373830:69374087 | 69371454:69371557 |
| exon_skip_235778 | chr5 | 69371084:69371171:69371454:69371557:69372034:69372054 | 69371454:69371557 |
| exon_skip_239590 | chr5 | 69396397:69396546:69400049:69400169:69410493:69410550 | 69400049:69400169 |
| exon_skip_250396 | chr5 | 69370246:69370284:69371084:69371171:69371454:69371469 | 69371084:69371171 |
| exon_skip_29088 | chr5 | 69371454:69371557:69372034:69372217:69373830:69374087 | 69372034:69372217 |
| exon_skip_29686 | chr5 | 69369842:69369933:69371035:69371171:69372034:69372054 | 69371035:69371171 |
| exon_skip_39607 | chr5 | 69400049:69400169:69410493:69410550:69414031:69414255 | 69410493:69410550 |
| exon_skip_57940 | chr5 | 69393354:69393500:69396397:69396546:69400049:69400169 | 69396397:69396546 |
| exon_skip_58044 | chr5 | 69386396:69386465:69389034:69389145:69391831:69391919 | 69389034:69389145 |
| exon_skip_62697 | chr5 | 69372157:69372217:69373830:69374087:69374628:69374711 | 69373830:69374087 |
| exon_skip_79234 | chr5 | 69381901:69382057:69384797:69384933:69386043:69386095 | 69384797:69384933 |
| exon_skip_83032 | chr5 | 69370246:69370284:69371035:69371171:69371454:69371469 | 69371035:69371171 |
| exon_skip_83224 | chr5 | 69370246:69370284:69371035:69371171:69373830:69373882 | 69371035:69371171 |
| 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 RAD17 |
| 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 |
| ENST00000509734 | 69371454 | 69371557 | 5CDS-5UTR |
| ENST00000380774 | 69384797 | 69384933 | Frame-shift |
| ENST00000509734 | 69384797 | 69384933 | Frame-shift |
| ENST00000380774 | 69389034 | 69389145 | Frame-shift |
| ENST00000509734 | 69389034 | 69389145 | Frame-shift |
| ENST00000380774 | 69410493 | 69410550 | Frame-shift |
| ENST00000509734 | 69410493 | 69410550 | Frame-shift |
| ENST00000380774 | 69396397 | 69396546 | In-frame |
| ENST00000509734 | 69396397 | 69396546 | 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 |
| 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 |
| ENST00000509734 | 69371454 | 69371557 | 5CDS-5UTR |
| ENST00000509734 | 69371035 | 69371171 | 5UTR-5UTR |
| ENST00000380774 | 69384797 | 69384933 | Frame-shift |
| ENST00000509734 | 69384797 | 69384933 | Frame-shift |
| ENST00000380774 | 69389034 | 69389145 | Frame-shift |
| ENST00000509734 | 69389034 | 69389145 | Frame-shift |
| ENST00000380774 | 69400049 | 69400169 | Frame-shift |
| ENST00000509734 | 69400049 | 69400169 | Frame-shift |
| ENST00000380774 | 69410493 | 69410550 | Frame-shift |
| ENST00000509734 | 69410493 | 69410550 | Frame-shift |
| ENST00000380774 | 69396397 | 69396546 | In-frame |
| ENST00000509734 | 69396397 | 69396546 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RAD17 |
p-ENSG00000152942_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 |
| ENST00000380774 | 2134 | 681 | 69396397 | 69396546 | 1519 | 1667 | 485 | 535 |
| ENST00000509734 | 3250 | 681 | 69396397 | 69396546 | 2135 | 2283 | 485 | 535 |
| 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 |
| ENST00000380774 | 2134 | 681 | 69396397 | 69396546 | 1519 | 1667 | 485 | 535 |
| ENST00000509734 | 3250 | 681 | 69396397 | 69396546 | 2135 | 2283 | 485 | 535 |
| 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 |
| O75943 | 485 | 535 | 1 | 681 | Chain | ID=PRO_0000209948;Note=Cell cycle checkpoint protein RAD17 |
| O75943 | 485 | 535 | 1 | 681 | Chain | ID=PRO_0000209948;Note=Cell cycle checkpoint protein RAD17 |
| O75943 | 485 | 535 | 487 | 487 | Natural variant | ID=VAR_021575;Note=R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.13;Dbxref=dbSNP:rs17236478 |
| O75943 | 485 | 535 | 487 | 487 | Natural variant | ID=VAR_021575;Note=R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.13;Dbxref=dbSNP:rs17236478 |
| O75943 | 485 | 535 | 535 | 535 | Natural variant | ID=VAR_021576;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.13;Dbxref=dbSNP:rs17236485 |
| O75943 | 485 | 535 | 535 | 535 | Natural variant | ID=VAR_021576;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.13;Dbxref=dbSNP:rs17236485 |
| O75943 | 485 | 535 | 432 | 681 | Region | Note=Interaction with MCM7;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15538388;Dbxref=PMID:15538388 |
| O75943 | 485 | 535 | 432 | 681 | Region | Note=Interaction with MCM7;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15538388;Dbxref=PMID:15538388 |
| 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 |
| O75943 | 485 | 535 | 1 | 681 | Chain | ID=PRO_0000209948;Note=Cell cycle checkpoint protein RAD17 |
| O75943 | 485 | 535 | 1 | 681 | Chain | ID=PRO_0000209948;Note=Cell cycle checkpoint protein RAD17 |
| O75943 | 485 | 535 | 487 | 487 | Natural variant | ID=VAR_021575;Note=R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.13;Dbxref=dbSNP:rs17236478 |
| O75943 | 485 | 535 | 487 | 487 | Natural variant | ID=VAR_021575;Note=R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.13;Dbxref=dbSNP:rs17236478 |
| O75943 | 485 | 535 | 535 | 535 | Natural variant | ID=VAR_021576;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.13;Dbxref=dbSNP:rs17236485 |
| O75943 | 485 | 535 | 535 | 535 | Natural variant | ID=VAR_021576;Note=K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.13;Dbxref=dbSNP:rs17236485 |
| O75943 | 485 | 535 | 432 | 681 | Region | Note=Interaction with MCM7;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15538388;Dbxref=PMID:15538388 |
| O75943 | 485 | 535 | 432 | 681 | Region | Note=Interaction with MCM7;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15538388;Dbxref=PMID:15538388 |
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3'-UTR located exon skipping events that lost miRNA binding sites in RAD17 |
| 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 RAD17 |
| - 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 RAD17 |
| 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 RAD17 |
| 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 RAD17 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP4 | exon_skip_194785 | 4.554373e-01 | 4.088970e-08 |
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RelatedDrugs for RAD17 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RAD17 |
| 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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