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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 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 | 20180519 | |
| UniProtAcc | O15078 | |
| Context | PubMed: CEP290 [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 |
| CEP290 | GO:0045893 | positive regulation of transcription, DNA-templated | 16682973 |
| CEP290 | GO:0060271 | cilium assembly | 26386044 |
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Exon skipping events across known transcript of Ensembl for CEP290 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 CEP290 |
| 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 CEP290 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95112 | 12 | 88447428:88447523:88448116:88448190:88449352:88449494 | 88448116:88448190 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95113 | 12 | 88452624:88452797:88453674:88453797:88454606:88454771 | 88453674:88453797 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95116 | 12 | 88453674:88453797:88454606:88454771:88456468:88456555 | 88454606:88454771 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95118 | 12 | 88456468:88456555:88457757:88457892:88462298:88462422 | 88457757:88457892 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95120 | 12 | 88465070:88465226:88465557:88465703:88470998:88471121 | 88465557:88465703 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95121 | 12 | 88476807:88477007:88477623:88477731:88478362:88478629 | 88477623:88477731 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95122 | 12 | 88480167:88480275:88481556:88481721:88482808:88483264 | 88481556:88481721 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95123 | 12 | 88482808:88483264:88484504:88484616:88486457:88486609 | 88484504:88484616 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95125 | 12 | 88484504:88484616:88486457:88486609:88487546:88487752 | 88486457:88486609 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95126 | 12 | 88486457:88486609:88487546:88487752:88490664:88490776 | 88487546:88487752 | ENSG00000198707.10 | ENST00000397838.3,ENST00000547691.2,ENST00000309041.7,ENST00000552810.1 |
| exon_skip_95129 | 12 | 88490664:88490776:88496614:88496788:88500451:88500682 | 88496614:88496788 | ENSG00000198707.10 | ENST00000397838.3,ENST00000309041.7,ENST00000552810.1,ENST00000604024.1 |
| exon_skip_95130 | 12 | 88505470:88505635:88508196:88508339:88508874:88508959 | 88508196:88508339 | ENSG00000198707.10 | ENST00000397838.3,ENST00000309041.7,ENST00000552810.1,ENST00000604024.1 |
| exon_skip_95131 | 12 | 88508874:88508959:88509254:88509347:88510809:88510922 | 88509254:88509347 | ENSG00000198707.10 | ENST00000397838.3,ENST00000604024.1 |
| exon_skip_95132 | 12 | 88508874:88508959:88510809:88510922:88512259:88512347 | 88510809:88510922 | ENSG00000198707.10 | ENST00000309041.7,ENST00000552810.1,ENST00000547926.2 |
| exon_skip_95134 | 12 | 88512259:88512347:88512419:88512520:88513890:88514053 | 88512419:88512520 | ENSG00000198707.10 | ENST00000397838.3,ENST00000552810.1,ENST00000547926.2,ENST00000604024.1 |
| exon_skip_95136 | 12 | 88524167:88524197:88524321:88524342:88524941:88524995 | 88524321:88524342 | ENSG00000198707.10 | ENST00000309041.7,ENST00000552810.1,ENST00000547926.2 |
| exon_skip_95137 | 12 | 88524321:88524342:88524941:88524995:88530419:88530563 | 88524941:88524995 | ENSG00000198707.10 | ENST00000309041.7,ENST00000552810.1,ENST00000547926.2 |
| exon_skip_95139 | 12 | 88524941:88524995:88530419:88530563:88532921:88532968 | 88530419:88530563 | ENSG00000198707.10 | ENST00000309041.7,ENST00000552810.1,ENST00000547926.2 |
| exon_skip_95141 | 12 | 88533271:88533341:88534732:88534810:88534982:88535111 | 88534732:88534810 | ENSG00000198707.10 | ENST00000309041.7,ENST00000552810.1,ENST00000550962.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CEP290 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95112 | 12 | 88447428:88447523:88448116:88448190:88449352:88449494 | 88448116:88448190 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95113 | 12 | 88452624:88452797:88453674:88453797:88454606:88454771 | 88453674:88453797 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95116 | 12 | 88453674:88453797:88454606:88454771:88456468:88456555 | 88454606:88454771 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95118 | 12 | 88456468:88456555:88457757:88457892:88462298:88462422 | 88457757:88457892 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95120 | 12 | 88465070:88465226:88465557:88465703:88470998:88471121 | 88465557:88465703 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95121 | 12 | 88476807:88477007:88477623:88477731:88478362:88478629 | 88477623:88477731 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95122 | 12 | 88480167:88480275:88481556:88481721:88482808:88483264 | 88481556:88481721 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95123 | 12 | 88482808:88483264:88484504:88484616:88486457:88486609 | 88484504:88484616 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95125 | 12 | 88484504:88484616:88486457:88486609:88487546:88487752 | 88486457:88486609 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95126 | 12 | 88486457:88486609:88487546:88487752:88490664:88490776 | 88487546:88487752 | ENSG00000198707.10 | ENST00000547691.2,ENST00000552810.1,ENST00000309041.7,ENST00000397838.3 |
| exon_skip_95129 | 12 | 88490664:88490776:88496614:88496788:88500451:88500682 | 88496614:88496788 | ENSG00000198707.10 | ENST00000552810.1,ENST00000309041.7,ENST00000397838.3,ENST00000604024.1 |
| exon_skip_95130 | 12 | 88505470:88505635:88508196:88508339:88508874:88508959 | 88508196:88508339 | ENSG00000198707.10 | ENST00000552810.1,ENST00000309041.7,ENST00000397838.3,ENST00000604024.1 |
| exon_skip_95131 | 12 | 88508874:88508959:88509254:88509347:88510809:88510922 | 88509254:88509347 | ENSG00000198707.10 | ENST00000397838.3,ENST00000604024.1 |
| exon_skip_95132 | 12 | 88508874:88508959:88510809:88510922:88512259:88512347 | 88510809:88510922 | ENSG00000198707.10 | ENST00000552810.1,ENST00000309041.7,ENST00000547926.2 |
| exon_skip_95134 | 12 | 88512259:88512347:88512419:88512520:88513890:88514053 | 88512419:88512520 | ENSG00000198707.10 | ENST00000552810.1,ENST00000397838.3,ENST00000604024.1,ENST00000547926.2 |
| exon_skip_95136 | 12 | 88524167:88524197:88524321:88524342:88524941:88524995 | 88524321:88524342 | ENSG00000198707.10 | ENST00000552810.1,ENST00000309041.7,ENST00000547926.2 |
| exon_skip_95137 | 12 | 88524321:88524342:88524941:88524995:88530419:88530563 | 88524941:88524995 | ENSG00000198707.10 | ENST00000552810.1,ENST00000309041.7,ENST00000547926.2 |
| exon_skip_95139 | 12 | 88524941:88524995:88530419:88530563:88532921:88532968 | 88530419:88530563 | ENSG00000198707.10 | ENST00000552810.1,ENST00000309041.7,ENST00000547926.2 |
| exon_skip_95141 | 12 | 88533271:88533341:88534732:88534810:88534982:88535111 | 88534732:88534810 | ENSG00000198707.10 | ENST00000552810.1,ENST00000309041.7,ENST00000550962.1 |
| 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 CEP290 |
| 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 |
| ENST00000552810 | 88448116 | 88448190 | Frame-shift |
| ENST00000552810 | 88465557 | 88465703 | Frame-shift |
| ENST00000552810 | 88484504 | 88484616 | Frame-shift |
| ENST00000552810 | 88486457 | 88486609 | Frame-shift |
| ENST00000552810 | 88487546 | 88487752 | Frame-shift |
| ENST00000552810 | 88508196 | 88508339 | Frame-shift |
| ENST00000552810 | 88510809 | 88510922 | Frame-shift |
| ENST00000552810 | 88512419 | 88512520 | Frame-shift |
| ENST00000552810 | 88453674 | 88453797 | In-frame |
| ENST00000552810 | 88454606 | 88454771 | In-frame |
| ENST00000552810 | 88457757 | 88457892 | In-frame |
| ENST00000552810 | 88477623 | 88477731 | In-frame |
| ENST00000552810 | 88481556 | 88481721 | In-frame |
| ENST00000552810 | 88496614 | 88496788 | In-frame |
| ENST00000552810 | 88524321 | 88524342 | In-frame |
| ENST00000552810 | 88524941 | 88524995 | In-frame |
| ENST00000552810 | 88530419 | 88530563 | In-frame |
| ENST00000552810 | 88534732 | 88534810 | 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 |
| ENST00000552810 | 88448116 | 88448190 | Frame-shift |
| ENST00000552810 | 88465557 | 88465703 | Frame-shift |
| ENST00000552810 | 88484504 | 88484616 | Frame-shift |
| ENST00000552810 | 88486457 | 88486609 | Frame-shift |
| ENST00000552810 | 88487546 | 88487752 | Frame-shift |
| ENST00000552810 | 88508196 | 88508339 | Frame-shift |
| ENST00000552810 | 88510809 | 88510922 | Frame-shift |
| ENST00000552810 | 88512419 | 88512520 | Frame-shift |
| ENST00000552810 | 88453674 | 88453797 | In-frame |
| ENST00000552810 | 88454606 | 88454771 | In-frame |
| ENST00000552810 | 88457757 | 88457892 | In-frame |
| ENST00000552810 | 88477623 | 88477731 | In-frame |
| ENST00000552810 | 88481556 | 88481721 | In-frame |
| ENST00000552810 | 88496614 | 88496788 | In-frame |
| ENST00000552810 | 88524321 | 88524342 | In-frame |
| ENST00000552810 | 88524941 | 88524995 | In-frame |
| ENST00000552810 | 88530419 | 88530563 | In-frame |
| ENST00000552810 | 88534732 | 88534810 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CEP290 |
| 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 |
| ENST00000552810 | 7965 | 2479 | 88534732 | 88534810 | 447 | 524 | 34 | 60 |
| ENST00000552810 | 7965 | 2479 | 88530419 | 88530563 | 642 | 785 | 99 | 147 |
| ENST00000552810 | 7965 | 2479 | 88524941 | 88524995 | 786 | 839 | 147 | 165 |
| ENST00000552810 | 7965 | 2479 | 88496614 | 88496788 | 3162 | 3335 | 939 | 997 |
| ENST00000552810 | 7965 | 2479 | 88481556 | 88481721 | 4374 | 4538 | 1343 | 1398 |
| ENST00000552810 | 7965 | 2479 | 88477623 | 88477731 | 5049 | 5156 | 1568 | 1604 |
| ENST00000552810 | 7965 | 2479 | 88457757 | 88457892 | 6480 | 6614 | 2045 | 2090 |
| ENST00000552810 | 7965 | 2479 | 88454606 | 88454771 | 6702 | 6866 | 2119 | 2174 |
| ENST00000552810 | 7965 | 2479 | 88453674 | 88453797 | 6867 | 6989 | 2174 | 2215 |
| 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 |
| ENST00000552810 | 7965 | 2479 | 88534732 | 88534810 | 447 | 524 | 34 | 60 |
| ENST00000552810 | 7965 | 2479 | 88530419 | 88530563 | 642 | 785 | 99 | 147 |
| ENST00000552810 | 7965 | 2479 | 88524941 | 88524995 | 786 | 839 | 147 | 165 |
| ENST00000552810 | 7965 | 2479 | 88496614 | 88496788 | 3162 | 3335 | 939 | 997 |
| ENST00000552810 | 7965 | 2479 | 88481556 | 88481721 | 4374 | 4538 | 1343 | 1398 |
| ENST00000552810 | 7965 | 2479 | 88477623 | 88477731 | 5049 | 5156 | 1568 | 1604 |
| ENST00000552810 | 7965 | 2479 | 88457757 | 88457892 | 6480 | 6614 | 2045 | 2090 |
| ENST00000552810 | 7965 | 2479 | 88454606 | 88454771 | 6702 | 6866 | 2119 | 2174 |
| ENST00000552810 | 7965 | 2479 | 88453674 | 88453797 | 6867 | 6989 | 2174 | 2215 |
| 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 |
| O15078 | 34 | 60 | 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 | 60 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 34 | 60 | 59 | 565 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 34 | 60 | 1 | 695 | Region | Note=Self-association (with itself or C-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| O15078 | 99 | 147 | 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 | 99 | 147 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 99 | 147 | 59 | 565 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 99 | 147 | 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 | 165 | 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 | 165 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 147 | 165 | 59 | 565 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 147 | 165 | 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 | 997 | 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 | 997 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 939 | 997 | 958 | 1027 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 1343 | 1398 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1343 | 1398 | 1071 | 1498 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 1568 | 1604 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1568 | 1604 | 1533 | 1584 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2045 | 2090 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2045 | 2090 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2045 | 2090 | 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 | 2174 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2119 | 2174 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2119 | 2174 | 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 | 2174 | 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 | 2215 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2174 | 2215 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2174 | 2215 | 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 | 2215 | 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 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 |
| O15078 | 34 | 60 | 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 | 60 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 34 | 60 | 59 | 565 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 34 | 60 | 1 | 695 | Region | Note=Self-association (with itself or C-terminus);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18723859;Dbxref=PMID:18723859 |
| O15078 | 99 | 147 | 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 | 99 | 147 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 99 | 147 | 59 | 565 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 99 | 147 | 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 | 165 | 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 | 165 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 147 | 165 | 59 | 565 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 147 | 165 | 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 | 997 | 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 | 997 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 939 | 997 | 958 | 1027 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 1343 | 1398 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1343 | 1398 | 1071 | 1498 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 1568 | 1604 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 1568 | 1604 | 1533 | 1584 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2045 | 2090 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2045 | 2090 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2045 | 2090 | 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 | 2174 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2119 | 2174 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2119 | 2174 | 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 | 2174 | 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 | 2215 | 1 | 2479 | Chain | ID=PRO_0000089464;Note=Centrosomal protein of 290 kDa |
| O15078 | 2174 | 2215 | 1635 | 2452 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15078 | 2174 | 2215 | 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 | 2215 | 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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SNVs in the skipped exons for CEP290 |
| - 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 |
| STAD | TCGA-BR-8361-01 | exon_skip_95113 | 88453675 | 88453797 | 88453675 | 88453675 | Frame_Shift_Del | T | - | p.K2215fs |
| STAD | TCGA-D7-A4YV-01 | exon_skip_95113 | 88453675 | 88453797 | 88453675 | 88453675 | Frame_Shift_Del | T | - | p.K2215fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_95113 | 88453675 | 88453797 | 88453675 | 88453675 | Frame_Shift_Del | T | - | p.K2215fs |
| UCEC | TCGA-D1-A17U-01 | exon_skip_95113 | 88453675 | 88453797 | 88453675 | 88453675 | Frame_Shift_Del | T | - | p.K2215_splice |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_95113 | 88453675 | 88453797 | 88453716 | 88453716 | Frame_Shift_Del | T | - | p.I2203fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_95116 | 88454607 | 88454771 | 88454712 | 88454712 | Frame_Shift_Del | T | - | p.K2139fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_95116 | 88454607 | 88454771 | 88454712 | 88454712 | Frame_Shift_Del | T | - | p.K2139fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95116 | 88454607 | 88454771 | 88454712 | 88454712 | Frame_Shift_Del | T | - | p.K2139fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_95116 | 88454607 | 88454771 | 88454712 | 88454712 | Frame_Shift_Del | T | - | p.K2139fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_95116 | 88454607 | 88454771 | 88454732 | 88454732 | Frame_Shift_Del | T | - | p.T2133fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95116 | 88454607 | 88454771 | 88454732 | 88454732 | Frame_Shift_Del | T | - | p.T2133fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_95120 | 88465558 | 88465703 | 88465649 | 88465649 | Frame_Shift_Del | T | - | p.I1922fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_95120 | 88465558 | 88465703 | 88465663 | 88465663 | Frame_Shift_Del | T | - | p.K1917fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_95126 | 88487547 | 88487752 | 88487621 | 88487621 | Frame_Shift_Del | T | - | p.M1079fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_95126 | 88487547 | 88487752 | 88487681 | 88487681 | Frame_Shift_Del | T | - | p.I1059fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_95126 | 88487547 | 88487752 | 88487681 | 88487681 | Frame_Shift_Del | T | - | p.I1061fs |
| LIHC | TCGA-G3-A25Y-01 | exon_skip_95126 | 88487547 | 88487752 | 88487681 | 88487681 | Frame_Shift_Del | T | - | p.I1059fs |
| SKCM | TCGA-ER-A3ES-06 | exon_skip_95126 | 88487547 | 88487752 | 88487681 | 88487681 | Frame_Shift_Del | T | - | p.I1059fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_95129 | 88496615 | 88496788 | 88496745 | 88496745 | Frame_Shift_Del | T | - | p.D954fs |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_95130 | 88508197 | 88508339 | 88508192 | 88508210 | Frame_Shift_Del | CTTACATTAACTAGTCTTT | - | p.680_684del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95132 | 88510810 | 88510922 | 88510832 | 88510832 | Frame_Shift_Del | T | - | p.N601fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_95134 | 88512420 | 88512520 | 88512423 | 88512423 | Frame_Shift_Del | T | - | p.K540fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_95134 | 88512420 | 88512520 | 88512483 | 88512483 | Frame_Shift_Del | A | - | p.F520fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_95137 | 88524942 | 88524995 | 88524954 | 88524954 | Frame_Shift_Del | T | - | p.K161fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_95139 | 88530420 | 88530563 | 88530454 | 88530454 | Frame_Shift_Del | T | - | p.K136fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_95139 | 88530420 | 88530563 | 88530480 | 88530480 | Frame_Shift_Del | T | - | p.K127fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_95125 | 88486458 | 88486609 | 88486603 | 88486604 | Frame_Shift_Ins | - | G | p.N1106fs |
| ESCA | TCGA-VR-AA4D-01 | exon_skip_95126 | 88487547 | 88487752 | 88487680 | 88487681 | Frame_Shift_Ins | - | T | p.I1061fs |
| BLCA | TCGA-E7-A6MD-01 | exon_skip_95118 | 88457758 | 88457892 | 88457844 | 88457844 | Nonsense_Mutation | G | A | p.Q2062* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_95120 | 88465558 | 88465703 | 88465637 | 88465637 | Nonsense_Mutation | G | A | p.R1926* |
| READ | TCGA-F5-6814-01 | exon_skip_95120 | 88465558 | 88465703 | 88465643 | 88465643 | Nonsense_Mutation | C | A | p.G1924X |
| COAD | TCGA-CA-6717-01 | exon_skip_95120 | 88465558 | 88465703 | 88465691 | 88465691 | Nonsense_Mutation | C | A | p.E1908X |
| UCEC | TCGA-AP-A056-01 | exon_skip_95130 | 88508197 | 88508339 | 88508238 | 88508238 | Nonsense_Mutation | C | A | p.E671* |
| CHOL | TCGA-W5-AA31-01 | exon_skip_95139 | 88530420 | 88530563 | 88530507 | 88530507 | Nonsense_Mutation | G | T | p.C118X |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95116 | 88454607 | 88454771 | 88454605 | 88454605 | Splice_Site | A | T | . |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95116 | 88454607 | 88454771 | 88454606 | 88454606 | Splice_Site | C | A | . |
| STAD | TCGA-BR-6452-01 | exon_skip_95116 | 88454607 | 88454771 | 88454773 | 88454773 | Splice_Site | T | C | p.S2120_splice |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_95118 | 88457758 | 88457892 | 88457893 | 88457893 | Splice_Site | C | A | e44-1 |
| LIHC | TCGA-DD-A1EC-01 | exon_skip_95130 | 88508197 | 88508339 | 88508195 | 88508195 | Splice_Site | A | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HEC108_ENDOMETRIUM | 88454607 | 88454771 | 88454642 | 88454642 | Frame_Shift_Del | T | - | p.M2163fs |
| HEC59_ENDOMETRIUM | 88534733 | 88534810 | 88534789 | 88534789 | Frame_Shift_Del | T | - | p.S42fs |
| EW24_BONE | 88453675 | 88453797 | 88453686 | 88453686 | Missense_Mutation | C | T | p.E2212K |
| T3M4_PANCREAS | 88453675 | 88453797 | 88453691 | 88453691 | Missense_Mutation | C | T | p.R2210H |
| HCC2157_BREAST | 88453675 | 88453797 | 88453762 | 88453762 | Missense_Mutation | A | C | p.H2186Q |
| HCC2157_MATCHED_NORMAL_TISSUE | 88453675 | 88453797 | 88453762 | 88453762 | Missense_Mutation | A | C | p.H2186Q |
| HCC515_LUNG | 88453675 | 88453797 | 88453767 | 88453767 | Missense_Mutation | C | A | p.G2185W |
| HCC78_LUNG | 88454607 | 88454771 | 88454760 | 88454760 | Missense_Mutation | A | C | p.S2123R |
| MDST8_LARGE_INTESTINE | 88457758 | 88457892 | 88457856 | 88457856 | Missense_Mutation | C | T | p.E2058K |
| KMH2_THYROID | 88477624 | 88477731 | 88477650 | 88477650 | Missense_Mutation | G | C | p.L1596V |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 88481557 | 88481721 | 88481663 | 88481663 | Missense_Mutation | C | T | p.R1363Q |
| HS600T_FIBROBLAST | 88481557 | 88481721 | 88481663 | 88481663 | Missense_Mutation | C | T | p.R1363Q |
| RCCMF_KIDNEY | 88481557 | 88481721 | 88481684 | 88481684 | Missense_Mutation | A | C | p.L1356R |
| SNU216_STOMACH | 88486458 | 88486609 | 88486491 | 88486491 | Missense_Mutation | T | C | p.K1143R |
| SNGM_ENDOMETRIUM | 88486458 | 88486609 | 88486545 | 88486545 | Missense_Mutation | C | T | p.S1125N |
| NCIH2286_LUNG | 88486458 | 88486609 | 88486561 | 88486561 | Missense_Mutation | C | A | p.D1120Y |
| HCC15_LUNG | 88486458 | 88486609 | 88486583 | 88486583 | Missense_Mutation | C | A | p.Q1112H |
| NCIH2066_LUNG | 88487547 | 88487752 | 88487630 | 88487630 | Missense_Mutation | A | C | p.C1076G |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 88487547 | 88487752 | 88487735 | 88487735 | Missense_Mutation | C | T | p.D1041N |
| NCIH1793_LUNG | 88510810 | 88510922 | 88510867 | 88510867 | Missense_Mutation | T | C | p.I589M |
| SCC9_UPPER_AERODIGESTIVE_TRACT | 88524322 | 88524342 | 88524324 | 88524324 | Missense_Mutation | T | G | p.K172Q |
| MCF7_BREAST | 88524942 | 88524995 | 88524974 | 88524974 | Missense_Mutation | C | T | p.A155T |
| JHUEM7_ENDOMETRIUM | 88524942 | 88524995 | 88524985 | 88524985 | Missense_Mutation | C | T | p.R151Q |
| HCC2998_LARGE_INTESTINE | 88530420 | 88530563 | 88530479 | 88530479 | Missense_Mutation | C | A | p.D128Y |
| HT115_LARGE_INTESTINE | 88530420 | 88530563 | 88530497 | 88530497 | Missense_Mutation | T | G | p.K122Q |
| RERFLCAD1_LUNG | 88530420 | 88530563 | 88530533 | 88530533 | Missense_Mutation | T | C | p.T110A |
| HCC2998_LARGE_INTESTINE | 88465558 | 88465703 | 88465637 | 88465637 | Nonsense_Mutation | G | A | p.R1926* |
| JHUEM7_ENDOMETRIUM | 88465558 | 88465703 | 88465691 | 88465691 | Nonsense_Mutation | C | A | p.E1908* |
| JHUEM7_ENDOMETRIUM | 88481557 | 88481721 | 88481694 | 88481694 | Nonsense_Mutation | C | A | p.E1353* |
| NCIH716_LARGE_INTESTINE | 88484505 | 88484616 | 88484572 | 88484572 | Nonsense_Mutation | A | T | p.L1169* |
| HCC2998_LARGE_INTESTINE | 88486458 | 88486609 | 88486558 | 88486558 | Nonsense_Mutation | C | A | p.E1121* |
| TOV21G_OVARY | 88453675 | 88453797 | 88453675 | 88453675 | Splice_Site | T | - | p.K2215fs |
| GP2D_LARGE_INTESTINE | 88453675 | 88453797 | 88453675 | 88453675 | Splice_Site | T | - | p.K2215fs |
| GP5D_LARGE_INTESTINE | 88453675 | 88453797 | 88453675 | 88453675 | Splice_Site | T | - | p.K2215fs |
| MM127_SKIN | 88453675 | 88453797 | 88453797 | 88453797 | Splice_Site | C | T | p.A2175T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CEP290 |
| 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 CEP290 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CEP290 |
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RelatedDrugs for CEP290 |
| 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 CEP290 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CEP290 | C1857780 | JOUBERT SYNDROME 5 | 3 | CTD_human;UNIPROT |
| CEP290 | C0752166 | Bardet-Biedl Syndrome | 1 | CTD_human;ORPHANET |
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