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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 CNTRL |
 Gene summary |
| Gene information | Gene symbol | CNTRL | Gene ID | 11064 |
| Gene name | centriolin | |
| Synonyms | CEP1|CEP110|FAN|bA165P4.1 | |
| Cytomap | 9q33.2 | |
| Type of gene | protein-coding | |
| Description | centriolin110 kDa centrosomal proteinbA165P4.1 (ortholog of mouse Ma2a8)bA165P4.2 (centrosomal protein 1)centriole associated proteincentrosomal protein 110kDacentrosomal protein of 110 kDa | |
| 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 CNTRL |
| 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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ENSG00000119397
| 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. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000613863.4 | CNTRL-212:protein_coding:CNTRL | 5.813283e+01 | -1.218211e+00 | 2.327656e-07 | 4.345496e-06 |
| 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 CNTRL |
| 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_109786 | chr9 | 121148672:121148861:121150170:121150305:121152485:121152693 | 121150170:121150305 |
| exon_skip_115650 | chr9 | 121162054:121162271:121164943:121165100:121166107:121166179 | 121164943:121165100 |
| exon_skip_123539 | chr9 | 121169802:121169816:121171408:121171548:121173243:121173509 | 121171408:121171548 |
| exon_skip_129507 | chr9 | 121075012:121075067:121080306:121080478:121088296:121088543 | 121080306:121080478 |
| exon_skip_135755 | chr9 | 121157843:121157880:121157983:121158109:121158855:121159019 | 121157983:121158109 |
| exon_skip_154375 | chr9 | 121096422:121096563:121098386:121098572:121107802:121107995 | 121098386:121098572 |
| exon_skip_160500 | chr9 | 121161856:121161971:121162054:121162271:121164943:121165100 | 121162054:121162271 |
| exon_skip_181202 | chr9 | 121123931:121124084:121125716:121125936:121135806:121135982 | 121125716:121125936 |
| exon_skip_183841 | chr9 | 121112459:121112578:121113502:121113724:121115091:121115200 | 121113502:121113724 |
| exon_skip_18895 | chr9 | 121090275:121090405:121094888:121095018:121096422:121096563 | 121094888:121095018 |
| exon_skip_195088 | chr9 | 121162057:121162271:121164943:121165100:121166107:121166180 | 121164943:121165100 |
| exon_skip_196845 | chr9 | 121169611:121169816:121171408:121171548:121173243:121173509 | 121171408:121171548 |
| exon_skip_257467 | chr9 | 121162054:121162271:121164943:121165100:121166107:121166180 | 121164943:121165100 |
| exon_skip_260456 | chr9 | 121169619:121169816:121171408:121171548:121173243:121173509 | 121171408:121171548 |
| exon_skip_263679 | chr9 | 121150170:121150483:121152485:121152693:121154721:121154913 | 121152485:121152693 |
| exon_skip_277969 | chr9 | 121160143:121160302:121161856:121161971:121162054:121162271 | 121161856:121161971 |
| exon_skip_44241 | chr9 | 121145244:121145385:121146108:121146256:121148672:121148861 | 121146108:121146256 |
| exon_skip_75931 | chr9 | 121107802:121107995:121112459:121112578:121113502:121113691 | 121112459:121112578 |
| exon_skip_8224 | chr9 | 121148672:121148861:121150170:121150483:121152485:121152693 | 121150170:121150483 |
| exon_skip_94490 | chr9 | 121144843:121144959:121145244:121145385:121146108:121146256 | 121145244:121145385 |
| 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 CNTRL |
| 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 |
| ENST00000373855 | 121080306 | 121080478 | 5UTR-5UTR |
| ENST00000238341 | 121094888 | 121095018 | Frame-shift |
| ENST00000373855 | 121094888 | 121095018 | Frame-shift |
| ENST00000238341 | 121098386 | 121098572 | Frame-shift |
| ENST00000373855 | 121098386 | 121098572 | Frame-shift |
| ENST00000238341 | 121150170 | 121150483 | Frame-shift |
| ENST00000373855 | 121150170 | 121150483 | Frame-shift |
| ENST00000238341 | 121152485 | 121152693 | Frame-shift |
| ENST00000373855 | 121152485 | 121152693 | Frame-shift |
| ENST00000238341 | 121164943 | 121165100 | Frame-shift |
| ENST00000373855 | 121164943 | 121165100 | Frame-shift |
| ENST00000238341 | 121112459 | 121112578 | In-frame |
| ENST00000373855 | 121112459 | 121112578 | In-frame |
| ENST00000238341 | 121171408 | 121171548 | In-frame |
| ENST00000373855 | 121171408 | 121171548 | 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 |
| ENST00000373855 | 121080306 | 121080478 | 5UTR-5UTR |
| ENST00000238341 | 121094888 | 121095018 | Frame-shift |
| ENST00000373855 | 121094888 | 121095018 | Frame-shift |
| ENST00000238341 | 121098386 | 121098572 | Frame-shift |
| ENST00000373855 | 121098386 | 121098572 | Frame-shift |
| ENST00000238341 | 121150170 | 121150483 | Frame-shift |
| ENST00000373855 | 121150170 | 121150483 | Frame-shift |
| ENST00000238341 | 121152485 | 121152693 | Frame-shift |
| ENST00000373855 | 121152485 | 121152693 | Frame-shift |
| ENST00000238341 | 121112459 | 121112578 | In-frame |
| ENST00000373855 | 121112459 | 121112578 | In-frame |
| ENST00000238341 | 121171408 | 121171548 | In-frame |
| ENST00000373855 | 121171408 | 121171548 | In-frame |
| 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 |
| ENST00000373855 | 121080306 | 121080478 | 5UTR-5UTR |
| ENST00000238341 | 121094888 | 121095018 | Frame-shift |
| ENST00000373855 | 121094888 | 121095018 | Frame-shift |
| ENST00000238341 | 121098386 | 121098572 | Frame-shift |
| ENST00000373855 | 121098386 | 121098572 | Frame-shift |
| ENST00000238341 | 121113502 | 121113724 | Frame-shift |
| ENST00000373855 | 121113502 | 121113724 | Frame-shift |
| ENST00000238341 | 121125716 | 121125936 | Frame-shift |
| ENST00000373855 | 121125716 | 121125936 | Frame-shift |
| ENST00000238341 | 121145244 | 121145385 | Frame-shift |
| ENST00000373855 | 121145244 | 121145385 | Frame-shift |
| ENST00000238341 | 121146108 | 121146256 | Frame-shift |
| ENST00000373855 | 121146108 | 121146256 | Frame-shift |
| ENST00000238341 | 121150170 | 121150483 | Frame-shift |
| ENST00000373855 | 121150170 | 121150483 | Frame-shift |
| ENST00000238341 | 121152485 | 121152693 | Frame-shift |
| ENST00000373855 | 121152485 | 121152693 | Frame-shift |
| ENST00000238341 | 121157983 | 121158109 | Frame-shift |
| ENST00000373855 | 121157983 | 121158109 | Frame-shift |
| ENST00000238341 | 121161856 | 121161971 | Frame-shift |
| ENST00000373855 | 121161856 | 121161971 | Frame-shift |
| ENST00000238341 | 121162054 | 121162271 | Frame-shift |
| ENST00000373855 | 121162054 | 121162271 | Frame-shift |
| ENST00000238341 | 121164943 | 121165100 | Frame-shift |
| ENST00000373855 | 121164943 | 121165100 | Frame-shift |
| ENST00000238341 | 121112459 | 121112578 | In-frame |
| ENST00000373855 | 121112459 | 121112578 | In-frame |
| ENST00000238341 | 121171408 | 121171548 | In-frame |
| ENST00000373855 | 121171408 | 121171548 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CNTRL |
p-ENSG00000119397_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 |
| ENST00000238341 | 7448 | 2325 | 121112459 | 121112578 | 1035 | 1153 | 334 | 374 |
| ENST00000373855 | 7677 | 2325 | 121112459 | 121112578 | 1264 | 1382 | 334 | 374 |
| ENST00000238341 | 7448 | 2325 | 121171408 | 121171548 | 6309 | 6448 | 2092 | 2139 |
| ENST00000373855 | 7677 | 2325 | 121171408 | 121171548 | 6538 | 6677 | 2092 | 2139 |
| 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 |
| ENST00000238341 | 7448 | 2325 | 121112459 | 121112578 | 1035 | 1153 | 334 | 374 |
| ENST00000373855 | 7677 | 2325 | 121112459 | 121112578 | 1264 | 1382 | 334 | 374 |
| ENST00000238341 | 7448 | 2325 | 121171408 | 121171548 | 6309 | 6448 | 2092 | 2139 |
| ENST00000373855 | 7677 | 2325 | 121171408 | 121171548 | 6538 | 6677 | 2092 | 2139 |
| 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 |
| ENST00000238341 | 7448 | 2325 | 121112459 | 121112578 | 1035 | 1153 | 334 | 374 |
| ENST00000373855 | 7677 | 2325 | 121112459 | 121112578 | 1264 | 1382 | 334 | 374 |
| ENST00000238341 | 7448 | 2325 | 121171408 | 121171548 | 6309 | 6448 | 2092 | 2139 |
| ENST00000373855 | 7677 | 2325 | 121171408 | 121171548 | 6538 | 6677 | 2092 | 2139 |
| 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 |
| Q7Z7A1 | 334 | 374 | 1 | 1818 | Alternative sequence | ID=VSP_032046;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q7Z7A1 | 334 | 374 | 1 | 1818 | Alternative sequence | ID=VSP_032046;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q7Z7A1 | 334 | 374 | 1 | 1331 | Alternative sequence | ID=VSP_032047;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10688839;Dbxref=PMID:10688839 |
| Q7Z7A1 | 334 | 374 | 1 | 1331 | Alternative sequence | ID=VSP_032047;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10688839;Dbxref=PMID:10688839 |
| Q7Z7A1 | 334 | 374 | 1 | 552 | Alternative sequence | ID=VSP_032048;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z7A1 | 334 | 374 | 1 | 552 | Alternative sequence | ID=VSP_032048;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z7A1 | 334 | 374 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 334 | 374 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 334 | 374 | 267 | 343 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 334 | 374 | 267 | 343 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 2092 | 2139 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 2092 | 2139 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 2092 | 2139 | 1317 | 2255 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 2092 | 2139 | 1317 | 2255 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 2092 | 2139 | 1948 | 2118 | Region | Note=Required for centrosome localization |
| Q7Z7A1 | 2092 | 2139 | 1948 | 2118 | Region | Note=Required for centrosome localization |
| Q7Z7A1 | 2092 | 2139 | 1985 | 2325 | Region | Note=Sufficient for interaction with HOOK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17140400;Dbxref=PMID:17140400 |
| Q7Z7A1 | 2092 | 2139 | 1985 | 2325 | Region | Note=Sufficient for interaction with HOOK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17140400;Dbxref=PMID:17140400 |
| Q7Z7A1 | 2092 | 2139 | 2139 | 2140 | Site | Note=Breakpoint for translocation to form CEP110-FGFR1 |
| Q7Z7A1 | 2092 | 2139 | 2139 | 2140 | Site | Note=Breakpoint for translocation to form CEP110-FGFR1 |
| 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 |
| Q7Z7A1 | 334 | 374 | 1 | 1818 | Alternative sequence | ID=VSP_032046;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q7Z7A1 | 334 | 374 | 1 | 1818 | Alternative sequence | ID=VSP_032046;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q7Z7A1 | 334 | 374 | 1 | 1331 | Alternative sequence | ID=VSP_032047;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10688839;Dbxref=PMID:10688839 |
| Q7Z7A1 | 334 | 374 | 1 | 1331 | Alternative sequence | ID=VSP_032047;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10688839;Dbxref=PMID:10688839 |
| Q7Z7A1 | 334 | 374 | 1 | 552 | Alternative sequence | ID=VSP_032048;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z7A1 | 334 | 374 | 1 | 552 | Alternative sequence | ID=VSP_032048;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z7A1 | 334 | 374 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 334 | 374 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 334 | 374 | 267 | 343 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 334 | 374 | 267 | 343 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 2092 | 2139 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 2092 | 2139 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 2092 | 2139 | 1317 | 2255 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 2092 | 2139 | 1317 | 2255 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 2092 | 2139 | 1948 | 2118 | Region | Note=Required for centrosome localization |
| Q7Z7A1 | 2092 | 2139 | 1948 | 2118 | Region | Note=Required for centrosome localization |
| Q7Z7A1 | 2092 | 2139 | 1985 | 2325 | Region | Note=Sufficient for interaction with HOOK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17140400;Dbxref=PMID:17140400 |
| Q7Z7A1 | 2092 | 2139 | 1985 | 2325 | Region | Note=Sufficient for interaction with HOOK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17140400;Dbxref=PMID:17140400 |
| Q7Z7A1 | 2092 | 2139 | 2139 | 2140 | Site | Note=Breakpoint for translocation to form CEP110-FGFR1 |
| Q7Z7A1 | 2092 | 2139 | 2139 | 2140 | Site | Note=Breakpoint for translocation to form CEP110-FGFR1 |
| 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 |
| Q7Z7A1 | 334 | 374 | 1 | 1818 | Alternative sequence | ID=VSP_032046;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q7Z7A1 | 334 | 374 | 1 | 1818 | Alternative sequence | ID=VSP_032046;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q7Z7A1 | 334 | 374 | 1 | 1331 | Alternative sequence | ID=VSP_032047;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10688839;Dbxref=PMID:10688839 |
| Q7Z7A1 | 334 | 374 | 1 | 1331 | Alternative sequence | ID=VSP_032047;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10688839;Dbxref=PMID:10688839 |
| Q7Z7A1 | 334 | 374 | 1 | 552 | Alternative sequence | ID=VSP_032048;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z7A1 | 334 | 374 | 1 | 552 | Alternative sequence | ID=VSP_032048;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z7A1 | 334 | 374 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 334 | 374 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 334 | 374 | 267 | 343 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 334 | 374 | 267 | 343 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 2092 | 2139 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 2092 | 2139 | 1 | 2325 | Chain | ID=PRO_0000323675;Note=Centriolin |
| Q7Z7A1 | 2092 | 2139 | 1317 | 2255 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 2092 | 2139 | 1317 | 2255 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7Z7A1 | 2092 | 2139 | 1948 | 2118 | Region | Note=Required for centrosome localization |
| Q7Z7A1 | 2092 | 2139 | 1948 | 2118 | Region | Note=Required for centrosome localization |
| Q7Z7A1 | 2092 | 2139 | 1985 | 2325 | Region | Note=Sufficient for interaction with HOOK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17140400;Dbxref=PMID:17140400 |
| Q7Z7A1 | 2092 | 2139 | 1985 | 2325 | Region | Note=Sufficient for interaction with HOOK2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17140400;Dbxref=PMID:17140400 |
| Q7Z7A1 | 2092 | 2139 | 2139 | 2140 | Site | Note=Breakpoint for translocation to form CEP110-FGFR1 |
| Q7Z7A1 | 2092 | 2139 | 2139 | 2140 | Site | Note=Breakpoint for translocation to form CEP110-FGFR1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CNTRL |
| 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 CNTRL |
| - 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 CNTRL |
| 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 CNTRL |
| 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 CNTRL |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_72626 | -4.089558e-01 | 1.686810e-07 |
| CB | RBM45 | exon_skip_72626 | 4.709130e-01 | 9.210310e-10 |
| CB | SAMD4A | exon_skip_260456 | -4.025376e-01 | 1.440525e-07 |
| CB | TRA2A | exon_skip_260456 | -4.772784e-01 | 2.007864e-10 |
| CB | NUP42 | exon_skip_260456 | 4.484633e-01 | 3.063031e-09 |
| CB | PABPC4 | exon_skip_260456 | 4.126610e-01 | 6.471903e-08 |
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RelatedDrugs for CNTRL |
| 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 CNTRL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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