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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 CEP290 |
 Gene summary |
| Gene information | Gene symbol | CEP290 | Gene ID | 80184 |
| Gene name | centrosomal protein 290 | |
| Synonyms | 3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16 | |
| Cytomap | 12q21.32 | |
| Type of gene | protein-coding | |
| Description | centrosomal protein of 290 kDaBardet-Biedl syndrome 14 proteinCTCL tumor antigen se2-2Meckel syndrome, type 4POC3 centriolar protein homologcancer/testis antigen 87centrosomal protein 290kDamonoclonal antibody 3H11 antigennephrocytsin-6prostate c | |
| Modification date | 20200328 | |
| 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 |
| CEP290 | GO:0045893 | positive regulation of transcription, DNA-templated | 16682973 |
| CEP290 | GO:0060271 | cilium assembly | 26386044 |
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Gene structures and expression levels for CEP290 |
| 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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ENSG00000198707
| 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 |
| STG | UP | ENST00000547691.7 | CEP290-203:nonsense_mediated_decay:CEP290 | 8.966615e+00 | 5.460037e+00 | 2.371865e-05 | 4.746796e-03 |
| CB | DOWN | ENST00000671777.1 | CEP290-209:lncRNA:CEP290 | 1.184440e+02 | -1.451320e+00 | 1.380791e-08 | 3.965361e-07 |
| CB | UP | ENST00000672414.1 | CEP290-211:nonsense_mediated_decay:CEP290 | 2.103550e+02 | 8.184229e-01 | 4.585588e-06 | 5.444724e-05 |
| CB | UP | ENST00000547926.6 | CEP290-204:nonsense_mediated_decay:CEP290 | 6.589561e+00 | 1.414113e+00 | 4.583050e-04 | 2.676176e-03 |
| TC | DOWN | ENST00000673058.1 | CEP290-213:protein_coding:CEP290 | 1.293368e+02 | -8.407798e-01 | 5.098802e-15 | 3.832627e-12 |
| TC | DOWN | ENST00000671777.1 | CEP290-209:lncRNA:CEP290 | 1.197992e+02 | -8.668018e-01 | 6.807307e-10 | 9.535498e-08 |
| 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 CEP290 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_115536 | chr12 | 88090728:88090839:88092681:88092832:88093770:88093975 | 88092681:88092832 |
| exon_skip_121456 | chr12 | 88089032:88089487:88090728:88090839:88092681:88092832 | 88090728:88090839 |
| exon_skip_130828 | chr12 | 88086391:88086498:88087780:88087944:88089032:88089096 | 88087780:88087944 |
| exon_skip_130905 | chr12 | 88058848:88059020:88059898:88060020:88060830:88060913 | 88059898:88060020 |
| exon_skip_133834 | chr12 | 88059900:88060020:88060830:88060994:88062692:88062778 | 88060830:88060994 |
| exon_skip_136012 | chr12 | 88083031:88083230:88083847:88083954:88084586:88084852 | 88083847:88083954 |
| exon_skip_142697 | chr12 | 88058848:88059020:88059898:88060020:88062692:88062778 | 88059898:88060020 |
| exon_skip_147866 | chr12 | 88053652:88053746:88054340:88054413:88055576:88055717 | 88054340:88054413 |
| exon_skip_158439 | chr12 | 88062692:88062778:88063981:88064115:88068522:88068645 | 88063981:88064115 |
| exon_skip_171877 | chr12 | 88130545:88130565:88131165:88131218:88136643:88136786 | 88131165:88131218 |
| exon_skip_186409 | chr12 | 88115098:88115182:88115478:88115570:88117033:88117145 | 88115478:88115570 |
| exon_skip_195205 | chr12 | 88111694:88111858:88114420:88114562:88115098:88115182 | 88114420:88114562 |
| exon_skip_19653 | chr12 | 88092681:88092832:88093770:88093975:88096888:88096999 | 88093770:88093975 |
| exon_skip_227686 | chr12 | 88130391:88130420:88130545:88130565:88131165:88131218 | 88130545:88130565 |
| exon_skip_229555 | chr12 | 88106996:88107098:88109066:88109181:88111202:88111347 | 88109066:88109181 |
| exon_skip_251129 | chr12 | 88139495:88139564:88140956:88141033:88141206:88141307 | 88140956:88141033 |
| exon_skip_260592 | chr12 | 88071294:88071449:88071781:88071926:88077222:88077344 | 88071781:88071926 |
| exon_skip_26314 | chr12 | 88058848:88059020:88059898:88060020:88060830:88060994 | 88059898:88060020 |
| exon_skip_31954 | chr12 | 88118483:88118570:88118637:88118743:88120114:88120276 | 88118637:88118743 |
| exon_skip_33355 | chr12 | 88118483:88118570:88118643:88118743:88120114:88120276 | 88118643:88118743 |
| exon_skip_43736 | chr12 | 88136643:88136786:88139145:88139191:88139495:88139564 | 88139145:88139191 |
| exon_skip_46648 | chr12 | 88059898:88060020:88060830:88060994:88062692:88062778 | 88060830:88060994 |
| exon_skip_47040 | chr12 | 88130391:88130420:88130545:88130565:88136643:88136786 | 88130545:88130565 |
| exon_skip_75702 | chr12 | 88115098:88115182:88117033:88117145:88118483:88118570 | 88117033:88117145 |
| exon_skip_81287 | chr12 | 88096888:88096999:88102838:88103011:88106675:88106905 | 88102838:88103011 |
| exon_skip_90488 | chr12 | 88106996:88107098:88109066:88109181:88111202:88111351 | 88109066:88109181 |
| exon_skip_96131 | chr12 | 88058848:88059020:88060830:88060994:88062692:88062778 | 88060830:88060994 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_147866 | ROSMAP_DLPFC | 5.735321e-01 | 7.024786e-01 | -1.289465e-01 | 3.325540e-05 |
| exon_skip_147866 | ROSMAP_PCC | 5.943902e-01 | 7.481707e-01 | -1.537805e-01 | 7.327470e-04 |
| exon_skip_147866 | ROSMAP_HCC | 6.923457e-01 | 7.927778e-01 | -1.004321e-01 | 2.318822e-02 |
| exon_skip_147866 | Mayo_CB | 4.052439e-01 | 6.546753e-01 | -2.494314e-01 | 2.075762e-06 |
| exon_skip_147866 | Mayo_TC | 5.771951e-01 | 7.550000e-01 | -1.778049e-01 | 9.209994e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for CEP290 |
| 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 |
| ENST00000552810 | 88054340 | 88054413 | Frame-shift |
| ENST00000552810 | 88071781 | 88071926 | Frame-shift |
| ENST00000552810 | 88090728 | 88090839 | Frame-shift |
| ENST00000552810 | 88092681 | 88092832 | Frame-shift |
| ENST00000552810 | 88093770 | 88093975 | Frame-shift |
| ENST00000552810 | 88109066 | 88109181 | Frame-shift |
| ENST00000552810 | 88114420 | 88114562 | Frame-shift |
| ENST00000552810 | 88117033 | 88117145 | Frame-shift |
| ENST00000552810 | 88118643 | 88118743 | Frame-shift |
| ENST00000552810 | 88059898 | 88060020 | In-frame |
| ENST00000552810 | 88060830 | 88060994 | In-frame |
| ENST00000552810 | 88083847 | 88083954 | In-frame |
| ENST00000552810 | 88087780 | 88087944 | In-frame |
| ENST00000552810 | 88102838 | 88103011 | In-frame |
| ENST00000552810 | 88130545 | 88130565 | In-frame |
| ENST00000552810 | 88140956 | 88141033 | 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 |
| ENST00000552810 | 88054340 | 88054413 | Frame-shift |
| ENST00000552810 | 88071781 | 88071926 | Frame-shift |
| ENST00000552810 | 88092681 | 88092832 | Frame-shift |
| ENST00000552810 | 88093770 | 88093975 | Frame-shift |
| ENST00000552810 | 88109066 | 88109181 | Frame-shift |
| ENST00000552810 | 88114420 | 88114562 | Frame-shift |
| ENST00000552810 | 88117033 | 88117145 | Frame-shift |
| ENST00000552810 | 88118643 | 88118743 | Frame-shift |
| ENST00000552810 | 88059898 | 88060020 | In-frame |
| ENST00000552810 | 88060830 | 88060994 | In-frame |
| ENST00000552810 | 88083847 | 88083954 | In-frame |
| ENST00000552810 | 88087780 | 88087944 | In-frame |
| ENST00000552810 | 88102838 | 88103011 | In-frame |
| ENST00000552810 | 88130545 | 88130565 | 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 |
| ENST00000552810 | 88054340 | 88054413 | Frame-shift |
| ENST00000552810 | 88071781 | 88071926 | Frame-shift |
| ENST00000552810 | 88092681 | 88092832 | Frame-shift |
| ENST00000552810 | 88093770 | 88093975 | Frame-shift |
| ENST00000552810 | 88109066 | 88109181 | Frame-shift |
| ENST00000552810 | 88114420 | 88114562 | Frame-shift |
| ENST00000552810 | 88117033 | 88117145 | Frame-shift |
| ENST00000552810 | 88118643 | 88118743 | Frame-shift |
| ENST00000552810 | 88139145 | 88139191 | Frame-shift |
| ENST00000552810 | 88059898 | 88060020 | In-frame |
| ENST00000552810 | 88060830 | 88060994 | In-frame |
| ENST00000552810 | 88063981 | 88064115 | In-frame |
| ENST00000552810 | 88083847 | 88083954 | In-frame |
| ENST00000552810 | 88087780 | 88087944 | In-frame |
| ENST00000552810 | 88130545 | 88130565 | In-frame |
| ENST00000552810 | 88131165 | 88131218 | In-frame |
| ENST00000552810 | 88140956 | 88141033 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CEP290 |
p-ENSG00000198707_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 |
| ENST00000552810 | 7965 | 2479 | 88140956 | 88141033 | 447 | 523 | 34 | 59 |
| ENST00000552810 | 7965 | 2479 | 88102838 | 88103011 | 3162 | 3334 | 939 | 996 |
| ENST00000552810 | 7965 | 2479 | 88087780 | 88087944 | 4374 | 4537 | 1343 | 1397 |
| ENST00000552810 | 7965 | 2479 | 88083847 | 88083954 | 5049 | 5155 | 1568 | 1603 |
| ENST00000552810 | 7965 | 2479 | 88060830 | 88060994 | 6702 | 6865 | 2119 | 2173 |
| ENST00000552810 | 7965 | 2479 | 88059898 | 88060020 | 6867 | 6988 | 2174 | 2214 |
| 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 |
| ENST00000552810 | 7965 | 2479 | 88102838 | 88103011 | 3162 | 3334 | 939 | 996 |
| ENST00000552810 | 7965 | 2479 | 88087780 | 88087944 | 4374 | 4537 | 1343 | 1397 |
| ENST00000552810 | 7965 | 2479 | 88083847 | 88083954 | 5049 | 5155 | 1568 | 1603 |
| ENST00000552810 | 7965 | 2479 | 88060830 | 88060994 | 6702 | 6865 | 2119 | 2173 |
| ENST00000552810 | 7965 | 2479 | 88059898 | 88060020 | 6867 | 6988 | 2174 | 2214 |
| 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 |
| ENST00000552810 | 7965 | 2479 | 88140956 | 88141033 | 447 | 523 | 34 | 59 |
| ENST00000552810 | 7965 | 2479 | 88131165 | 88131218 | 786 | 838 | 147 | 164 |
| ENST00000552810 | 7965 | 2479 | 88087780 | 88087944 | 4374 | 4537 | 1343 | 1397 |
| ENST00000552810 | 7965 | 2479 | 88083847 | 88083954 | 5049 | 5155 | 1568 | 1603 |
| ENST00000552810 | 7965 | 2479 | 88063981 | 88064115 | 6480 | 6613 | 2045 | 2089 |
| ENST00000552810 | 7965 | 2479 | 88060830 | 88060994 | 6702 | 6865 | 2119 | 2173 |
| ENST00000552810 | 7965 | 2479 | 88059898 | 88060020 | 6867 | 6988 | 2174 | 2214 |
| 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 |
| O15078 | 34 | 59 | 1 | 940 | Alternative sequence | ID=VSP_021027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9205841;Dbxref=PMID:9205841 |
| O15078 | 34 | 59 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 34 | 59 | 59 | 565 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 34 | 59 | 1 | 695 | Region | Note=Self-association (with itself or C-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| O15078 | 939 | 996 | 1 | 940 | Alternative sequence | ID=VSP_021027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9205841;Dbxref=PMID:9205841 |
| O15078 | 939 | 996 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 939 | 996 | 958 | 1027 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 1343 | 1397 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1343 | 1397 | 1071 | 1498 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 1568 | 1603 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1568 | 1603 | 1533 | 1584 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2119 | 2173 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2119 | 2173 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2119 | 2173 | 2134 | 2134 | Natural variant | ID=VAR_075696;Note=In JBTS5%3B unknown pathological significance. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs117852025,PMID:26477546 |
| O15078 | 2119 | 2173 | 1966 | 2479 | Region | Note=Self-association (with itself or N-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| O15078 | 2174 | 2214 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2174 | 2214 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2174 | 2214 | 2210 | 2210 | Natural variant | ID=VAR_066997;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21493627;Dbxref=dbSNP:rs374852145,PMID:21493627 |
| O15078 | 2174 | 2214 | 1966 | 2479 | Region | Note=Self-association (with itself or N-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| 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 |
| O15078 | 939 | 996 | 1 | 940 | Alternative sequence | ID=VSP_021027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9205841;Dbxref=PMID:9205841 |
| O15078 | 939 | 996 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 939 | 996 | 958 | 1027 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 1343 | 1397 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1343 | 1397 | 1071 | 1498 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 1568 | 1603 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1568 | 1603 | 1533 | 1584 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2119 | 2173 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2119 | 2173 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2119 | 2173 | 2134 | 2134 | Natural variant | ID=VAR_075696;Note=In JBTS5%3B unknown pathological significance. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs117852025,PMID:26477546 |
| O15078 | 2119 | 2173 | 1966 | 2479 | Region | Note=Self-association (with itself or N-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| O15078 | 2174 | 2214 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2174 | 2214 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2174 | 2214 | 2210 | 2210 | Natural variant | ID=VAR_066997;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21493627;Dbxref=dbSNP:rs374852145,PMID:21493627 |
| O15078 | 2174 | 2214 | 1966 | 2479 | Region | Note=Self-association (with itself or N-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| 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 |
| O15078 | 34 | 59 | 1 | 940 | Alternative sequence | ID=VSP_021027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9205841;Dbxref=PMID:9205841 |
| O15078 | 34 | 59 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 34 | 59 | 59 | 565 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 34 | 59 | 1 | 695 | Region | Note=Self-association (with itself or C-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| O15078 | 147 | 164 | 1 | 940 | Alternative sequence | ID=VSP_021027;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9205841;Dbxref=PMID:9205841 |
| O15078 | 147 | 164 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 147 | 164 | 59 | 565 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 147 | 164 | 1 | 695 | Region | Note=Self-association (with itself or C-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| O15078 | 1343 | 1397 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1343 | 1397 | 1071 | 1498 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 1568 | 1603 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1568 | 1603 | 1533 | 1584 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2045 | 2089 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2045 | 2089 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2045 | 2089 | 1966 | 2479 | Region | Note=Self-association (with itself or N-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| O15078 | 2119 | 2173 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2119 | 2173 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2119 | 2173 | 2134 | 2134 | Natural variant | ID=VAR_075696;Note=In JBTS5%3B unknown pathological significance. I->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26477546;Dbxref=dbSNP:rs117852025,PMID:26477546 |
| O15078 | 2119 | 2173 | 1966 | 2479 | Region | Note=Self-association (with itself or N-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| O15078 | 2174 | 2214 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2174 | 2214 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2174 | 2214 | 2210 | 2210 | Natural variant | ID=VAR_066997;Note=R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21493627;Dbxref=dbSNP:rs374852145,PMID:21493627 |
| O15078 | 2174 | 2214 | 1966 | 2479 | Region | Note=Self-association (with itself or N-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CEP290 |
| 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 CEP290 |
| - 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 CEP290 |
| 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 CEP290 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_229555 | rs17015421 | chr12:88052112 | 1.801167e-05 | 2.109430e-03 |
| HCC | exon_skip_229555 | rs17015437 | chr12:88075750 | 2.665221e-04 | 2.048012e-02 |
| HCC | exon_skip_195205 | rs11503324 | chr12:88022068 | 4.029231e-04 | 2.855938e-02 |
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Correlation with RNA binding proteins (RBPs) for CEP290 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_147866 | -5.376822e-01 | 2.711189e-13 |
| CB | TRA2A | exon_skip_147866 | -6.115252e-01 | 1.110505e-17 |
| CB | RBM6 | exon_skip_26314 | -5.233989e-01 | 1.457282e-12 |
| CB | CNOT4 | exon_skip_26314 | -4.837253e-01 | 1.053335e-10 |
| CB | TRA2A | exon_skip_26314 | -5.380762e-01 | 2.585380e-13 |
| CB | PCBP4 | exon_skip_46648 | 4.184348e-01 | 4.051722e-08 |
| FL | SRSF2 | exon_skip_147866 | 4.023975e-01 | 6.293314e-07 |
| HCC | MSI1 | exon_skip_147866 | -4.188273e-01 | 4.000240e-12 |
| TC | SRSF2 | exon_skip_147866 | 4.705777e-01 | 3.405209e-10 |
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RelatedDrugs for CEP290 |
| 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 CEP290 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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