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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 ICA1 |
 Gene summary |
| Gene information | Gene symbol | ICA1 | Gene ID | 3382 |
| Gene name | islet cell autoantigen 1 | |
| Synonyms | ICA69|ICAp69 | |
| Cytomap | 7p21.3 | |
| Type of gene | protein-coding | |
| Description | islet cell autoantigen 169 kDa islet cell autoantigendiabetes mellitus type I autoantigenislet cell autoantigen 1 isoformislet cell autoantigen 1, 69kDaislet cell autoantigen p69p69testicular tissue protein Li 162 | |
| Modification date | 20180519 | |
| UniProtAcc | Q05084 | |
| Context | PubMed: ICA1 [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 |
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Exon skipping events across known transcript of Ensembl for ICA1 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 ICA1 |
| 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 ICA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_473739 | 7 | 8153552:8153674:8167502:8167772:8178469:8178511 | 8167502:8167772 | ENSG00000003147.13 | ENST00000402384.3,ENST00000455539.1,ENST00000422063.2,ENST00000396675.3,ENST00000406470.2,ENST00000401396.1,ENST00000265577.7 |
| exon_skip_473746 | 7 | 8178472:8178511:8178614:8178677:8181394:8181447 | 8178614:8178677 | ENSG00000003147.13 | ENST00000402384.3,ENST00000455539.1,ENST00000422063.2,ENST00000396675.3,ENST00000406470.2,ENST00000401396.1,ENST00000265577.7 |
| exon_skip_473747 | 7 | 8178614:8178677:8181394:8181447:8183504:8183602 | 8181394:8181447 | ENSG00000003147.13 | ENST00000402384.3,ENST00000455539.1,ENST00000396675.3,ENST00000406470.2,ENST00000401396.1,ENST00000265577.7 |
| exon_skip_473748 | 7 | 8181394:8181447:8181598:8181685:8183504:8183602 | 8181598:8181685 | ENSG00000003147.13 | ENST00000422063.2 |
| exon_skip_473751 | 7 | 8183504:8183602:8196745:8196844:8198156:8198282 | 8196745:8196844 | ENSG00000003147.13 | ENST00000402384.3,ENST00000455539.1,ENST00000422063.2,ENST00000396675.3,ENST00000406470.2,ENST00000401396.1,ENST00000265577.7 |
| exon_skip_473765 | 7 | 8196745:8196844:8198156:8198282:8257934:8258089 | 8198156:8198282 | ENSG00000003147.13 | ENST00000407906.1,ENST00000402384.3,ENST00000455539.1,ENST00000422063.2,ENST00000317367.5,ENST00000396675.3,ENST00000406470.2,ENST00000401396.1,ENST00000265577.7 |
| exon_skip_473767 | 7 | 8258108:8258133:8260904:8261028:8268230:8268303 | 8260904:8261028 | ENSG00000003147.13 | ENST00000447326.1,ENST00000407906.1,ENST00000402384.3,ENST00000430867.1,ENST00000422063.2,ENST00000317367.5,ENST00000396675.3,ENST00000406470.2,ENST00000401396.1,ENST00000265577.7,ENST00000339809.6 |
| exon_skip_473768 | 7 | 8260982:8261028:8263117:8263189:8268230:8268303 | 8263117:8263189 | ENSG00000003147.13 | ENST00000457755.1 |
| exon_skip_473770 | 7 | 8260982:8261028:8267267:8267481:8268230:8268285 | 8267267:8267481 | ENSG00000003147.13 | ENST00000455539.1 |
| exon_skip_473772 | 7 | 8268271:8268303:8272219:8272363:8275539:8275556 | 8272219:8272363 | ENSG00000003147.13 | ENST00000317367.5,ENST00000401396.1 |
| exon_skip_473773 | 7 | 8268271:8268303:8272219:8272382:8275539:8275556 | 8272219:8272382 | ENSG00000003147.13 | ENST00000430867.1,ENST00000446305.1,ENST00000265577.7 |
| exon_skip_473774 | 7 | 8268271:8268303:8272219:8272385:8275539:8275556 | 8272219:8272385 | ENSG00000003147.13 | ENST00000447326.1,ENST00000407906.1,ENST00000402384.3,ENST00000455539.1,ENST00000457755.1,ENST00000422063.2,ENST00000396675.3,ENST00000406470.2,ENST00000339809.6 |
| exon_skip_473778 | 7 | 8272219:8272385:8275539:8275635:8301723:8301775 | 8275539:8275635 | ENSG00000003147.13 | ENST00000455539.1,ENST00000457755.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ICA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_473739 | 7 | 8153552:8153674:8167502:8167772:8178469:8178511 | 8167502:8167772 | ENSG00000003147.13 | ENST00000402384.3,ENST00000406470.2,ENST00000265577.7,ENST00000396675.3,ENST00000455539.1,ENST00000401396.1,ENST00000422063.2 |
| exon_skip_473746 | 7 | 8178472:8178511:8178614:8178677:8181394:8181447 | 8178614:8178677 | ENSG00000003147.13 | ENST00000402384.3,ENST00000406470.2,ENST00000265577.7,ENST00000396675.3,ENST00000455539.1,ENST00000401396.1,ENST00000422063.2 |
| exon_skip_473747 | 7 | 8178614:8178677:8181394:8181447:8183504:8183602 | 8181394:8181447 | ENSG00000003147.13 | ENST00000402384.3,ENST00000406470.2,ENST00000265577.7,ENST00000396675.3,ENST00000455539.1,ENST00000401396.1 |
| exon_skip_473748 | 7 | 8181394:8181447:8181598:8181685:8183504:8183602 | 8181598:8181685 | ENSG00000003147.13 | ENST00000422063.2 |
| exon_skip_473751 | 7 | 8183504:8183602:8196745:8196844:8198156:8198282 | 8196745:8196844 | ENSG00000003147.13 | ENST00000402384.3,ENST00000406470.2,ENST00000265577.7,ENST00000396675.3,ENST00000455539.1,ENST00000401396.1,ENST00000422063.2 |
| exon_skip_473765 | 7 | 8196745:8196844:8198156:8198282:8257934:8258089 | 8198156:8198282 | ENSG00000003147.13 | ENST00000402384.3,ENST00000406470.2,ENST00000265577.7,ENST00000396675.3,ENST00000455539.1,ENST00000401396.1,ENST00000422063.2,ENST00000407906.1,ENST00000317367.5 |
| exon_skip_473767 | 7 | 8258108:8258133:8260904:8261028:8268230:8268303 | 8260904:8261028 | ENSG00000003147.13 | ENST00000402384.3,ENST00000406470.2,ENST00000265577.7,ENST00000396675.3,ENST00000339809.6,ENST00000401396.1,ENST00000422063.2,ENST00000407906.1,ENST00000317367.5,ENST00000447326.1,ENST00000430867.1 |
| exon_skip_473768 | 7 | 8260982:8261028:8263117:8263189:8268230:8268303 | 8263117:8263189 | ENSG00000003147.13 | ENST00000457755.1 |
| exon_skip_473770 | 7 | 8260982:8261028:8267267:8267481:8268230:8268285 | 8267267:8267481 | ENSG00000003147.13 | ENST00000455539.1 |
| exon_skip_473772 | 7 | 8268271:8268303:8272219:8272363:8275539:8275556 | 8272219:8272363 | ENSG00000003147.13 | ENST00000401396.1,ENST00000317367.5 |
| exon_skip_473773 | 7 | 8268271:8268303:8272219:8272382:8275539:8275556 | 8272219:8272382 | ENSG00000003147.13 | ENST00000265577.7,ENST00000430867.1,ENST00000446305.1 |
| exon_skip_473774 | 7 | 8268271:8268303:8272219:8272385:8275539:8275556 | 8272219:8272385 | ENSG00000003147.13 | ENST00000402384.3,ENST00000406470.2,ENST00000396675.3,ENST00000455539.1,ENST00000339809.6,ENST00000422063.2,ENST00000407906.1,ENST00000447326.1,ENST00000457755.1 |
| exon_skip_473778 | 7 | 8272219:8272385:8275539:8275635:8301723:8301775 | 8275539:8275635 | ENSG00000003147.13 | ENST00000455539.1,ENST00000457755.1 |
| 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 ICA1 |
| 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 |
| ENST00000396675 | 8181394 | 8181447 | Frame-shift |
| ENST00000402384 | 8181394 | 8181447 | Frame-shift |
| ENST00000406470 | 8181394 | 8181447 | Frame-shift |
| ENST00000396675 | 8260904 | 8261028 | Frame-shift |
| ENST00000402384 | 8260904 | 8261028 | Frame-shift |
| ENST00000406470 | 8260904 | 8261028 | Frame-shift |
| ENST00000396675 | 8272219 | 8272385 | Frame-shift |
| ENST00000402384 | 8272219 | 8272385 | Frame-shift |
| ENST00000406470 | 8272219 | 8272385 | Frame-shift |
| ENST00000396675 | 8167502 | 8167772 | In-frame |
| ENST00000402384 | 8167502 | 8167772 | In-frame |
| ENST00000406470 | 8167502 | 8167772 | In-frame |
| ENST00000396675 | 8178614 | 8178677 | In-frame |
| ENST00000402384 | 8178614 | 8178677 | In-frame |
| ENST00000406470 | 8178614 | 8178677 | In-frame |
| ENST00000396675 | 8196745 | 8196844 | In-frame |
| ENST00000402384 | 8196745 | 8196844 | In-frame |
| ENST00000406470 | 8196745 | 8196844 | In-frame |
| ENST00000396675 | 8198156 | 8198282 | In-frame |
| ENST00000402384 | 8198156 | 8198282 | In-frame |
| ENST00000406470 | 8198156 | 8198282 | 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 |
| ENST00000396675 | 8181394 | 8181447 | Frame-shift |
| ENST00000402384 | 8181394 | 8181447 | Frame-shift |
| ENST00000406470 | 8181394 | 8181447 | Frame-shift |
| ENST00000396675 | 8260904 | 8261028 | Frame-shift |
| ENST00000402384 | 8260904 | 8261028 | Frame-shift |
| ENST00000406470 | 8260904 | 8261028 | Frame-shift |
| ENST00000396675 | 8272219 | 8272385 | Frame-shift |
| ENST00000402384 | 8272219 | 8272385 | Frame-shift |
| ENST00000406470 | 8272219 | 8272385 | Frame-shift |
| ENST00000396675 | 8167502 | 8167772 | In-frame |
| ENST00000402384 | 8167502 | 8167772 | In-frame |
| ENST00000406470 | 8167502 | 8167772 | In-frame |
| ENST00000396675 | 8178614 | 8178677 | In-frame |
| ENST00000402384 | 8178614 | 8178677 | In-frame |
| ENST00000406470 | 8178614 | 8178677 | In-frame |
| ENST00000396675 | 8196745 | 8196844 | In-frame |
| ENST00000402384 | 8196745 | 8196844 | In-frame |
| ENST00000406470 | 8196745 | 8196844 | In-frame |
| ENST00000396675 | 8198156 | 8198282 | In-frame |
| ENST00000402384 | 8198156 | 8198282 | In-frame |
| ENST00000406470 | 8198156 | 8198282 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ICA1 |
| 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 |
| ENST00000396675 | 2150 | 483 | 8198156 | 8198282 | 647 | 772 | 193 | 235 |
| ENST00000402384 | 2475 | 483 | 8198156 | 8198282 | 847 | 972 | 193 | 235 |
| ENST00000406470 | 2400 | 483 | 8198156 | 8198282 | 775 | 900 | 193 | 235 |
| ENST00000396675 | 2150 | 483 | 8196745 | 8196844 | 773 | 871 | 235 | 268 |
| ENST00000402384 | 2475 | 483 | 8196745 | 8196844 | 973 | 1071 | 235 | 268 |
| ENST00000406470 | 2400 | 483 | 8196745 | 8196844 | 901 | 999 | 235 | 268 |
| ENST00000396675 | 2150 | 483 | 8178614 | 8178677 | 1023 | 1085 | 318 | 339 |
| ENST00000402384 | 2475 | 483 | 8178614 | 8178677 | 1223 | 1285 | 318 | 339 |
| ENST00000406470 | 2400 | 483 | 8178614 | 8178677 | 1151 | 1213 | 318 | 339 |
| ENST00000396675 | 2150 | 483 | 8167502 | 8167772 | 1128 | 1397 | 353 | 443 |
| ENST00000402384 | 2475 | 483 | 8167502 | 8167772 | 1328 | 1597 | 353 | 443 |
| ENST00000406470 | 2400 | 483 | 8167502 | 8167772 | 1256 | 1525 | 353 | 443 |
| 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 |
| ENST00000396675 | 2150 | 483 | 8198156 | 8198282 | 647 | 772 | 193 | 235 |
| ENST00000402384 | 2475 | 483 | 8198156 | 8198282 | 847 | 972 | 193 | 235 |
| ENST00000406470 | 2400 | 483 | 8198156 | 8198282 | 775 | 900 | 193 | 235 |
| ENST00000396675 | 2150 | 483 | 8196745 | 8196844 | 773 | 871 | 235 | 268 |
| ENST00000402384 | 2475 | 483 | 8196745 | 8196844 | 973 | 1071 | 235 | 268 |
| ENST00000406470 | 2400 | 483 | 8196745 | 8196844 | 901 | 999 | 235 | 268 |
| ENST00000396675 | 2150 | 483 | 8178614 | 8178677 | 1023 | 1085 | 318 | 339 |
| ENST00000402384 | 2475 | 483 | 8178614 | 8178677 | 1223 | 1285 | 318 | 339 |
| ENST00000406470 | 2400 | 483 | 8178614 | 8178677 | 1151 | 1213 | 318 | 339 |
| ENST00000396675 | 2150 | 483 | 8167502 | 8167772 | 1128 | 1397 | 353 | 443 |
| ENST00000402384 | 2475 | 483 | 8167502 | 8167772 | 1328 | 1597 | 353 | 443 |
| ENST00000406470 | 2400 | 483 | 8167502 | 8167772 | 1256 | 1525 | 353 | 443 |
| 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 |
| Q05084 | 193 | 235 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 193 | 235 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 193 | 235 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 193 | 235 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 193 | 235 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 193 | 235 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 235 | 268 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 235 | 268 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 235 | 268 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 235 | 268 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 235 | 268 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 235 | 268 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 318 | 339 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 318 | 339 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 318 | 339 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 353 | 443 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 353 | 443 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 353 | 443 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| 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 |
| Q05084 | 193 | 235 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 193 | 235 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 193 | 235 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 193 | 235 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 193 | 235 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 193 | 235 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 235 | 268 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 235 | 268 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 235 | 268 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 235 | 268 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 235 | 268 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 235 | 268 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 318 | 339 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 318 | 339 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 318 | 339 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 353 | 443 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 353 | 443 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 353 | 443 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
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SNVs in the skipped exons for ICA1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_473739 | 8167503 | 8167772 | 8167716 | 8167716 | Frame_Shift_Del | G | - | p.L376fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_473746 | 8178615 | 8178677 | 8178663 | 8178663 | Frame_Shift_Del | T | - | p.S324fs |
| LIHC | TCGA-G3-A3CG-01 | exon_skip_473765 | 8198157 | 8198282 | 8198251 | 8198251 | Frame_Shift_Del | T | - | p.N204fs |
| LUAD | TCGA-J2-8194-01 | exon_skip_473765 | 8198157 | 8198282 | 8198251 | 8198251 | Frame_Shift_Del | T | - | p.N204fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_473772 | 8272220 | 8272363 | 8272332 | 8272332 | Frame_Shift_Del | T | - | p.N24fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_473773 | 8272220 | 8272382 | 8272332 | 8272332 | Frame_Shift_Del | T | - | p.N24fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_473774 | 8272220 | 8272385 | 8272332 | 8272332 | Frame_Shift_Del | T | - | p.N24fs |
| ACC | TCGA-OR-A5LB-01 | exon_skip_473765 | 8198157 | 8198282 | 8198250 | 8198251 | Frame_Shift_Ins | - | T | p.N204fs |
| CHOL | TCGA-4G-AAZT-01 | exon_skip_473765 | 8198157 | 8198282 | 8198250 | 8198251 | Frame_Shift_Ins | - | T | p.I204fs |
| COAD | TCGA-CA-6718-01 | exon_skip_473746 | 8178615 | 8178677 | 8178656 | 8178656 | Nonsense_Mutation | A | C | p.L326X |
| SKCM | TCGA-EE-A29D-06 | exon_skip_473747 | 8181395 | 8181447 | 8181422 | 8181422 | Nonsense_Mutation | G | A | p.Q310* |
| SKCM | TCGA-EE-A29D-06 | exon_skip_473747 | 8181395 | 8181447 | 8181422 | 8181422 | Nonsense_Mutation | G | A | p.Q310X |
| BLCA | TCGA-E7-A541-01 | exon_skip_473751 | 8196746 | 8196844 | 8196772 | 8196772 | Nonsense_Mutation | G | A | p.Q260* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_473751 | 8196746 | 8196844 | 8196821 | 8196821 | Nonsense_Mutation | C | T | p.Y243X |
| SKCM | TCGA-EE-A2MJ-06 | exon_skip_473765 | 8198157 | 8198282 | 8198255 | 8198255 | Nonsense_Mutation | T | A | p.K203* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_473767 | 8260905 | 8261028 | 8260990 | 8260990 | Nonsense_Mutation | G | A | p.R99* |
| SKCM | TCGA-EE-A20C-06 | exon_skip_473773 | 8272220 | 8272382 | 8272378 | 8272378 | Nonsense_Mutation | G | A | p.Q9X |
| SKCM | TCGA-EE-A20C-06 | exon_skip_473774 | 8272220 | 8272385 | 8272378 | 8272378 | Nonsense_Mutation | G | A | p.Q9X |
| - 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 |
| HCC366_LUNG | 8198157 | 8198282 | 8198251 | 8198252 | Frame_Shift_Ins | - | A | p.N204fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8167503 | 8167772 | 8167553 | 8167553 | Missense_Mutation | G | T | p.P427H |
| 2313287_STOMACH | 8167503 | 8167772 | 8167663 | 8167663 | Missense_Mutation | G | T | p.F390L |
| NCIH2172_LUNG | 8167503 | 8167772 | 8167705 | 8167705 | Missense_Mutation | C | G | p.L376F |
| SCABER_URINARY_TRACT | 8167503 | 8167772 | 8167743 | 8167743 | Missense_Mutation | C | T | p.E364K |
| JHH1_LIVER | 8196746 | 8196844 | 8196840 | 8196840 | Missense_Mutation | G | T | p.T237N |
| CORL321_PLEURA | 8198157 | 8198282 | 8198210 | 8198210 | Missense_Mutation | G | T | p.L218I |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8198157 | 8198282 | 8198249 | 8198249 | Missense_Mutation | A | C | p.F205V |
| WM983B_SKIN | 8260905 | 8261028 | 8260927 | 8260927 | Missense_Mutation | G | A | p.L120F |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8260905 | 8261028 | 8261006 | 8261006 | Missense_Mutation | T | G | p.E93D |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8272220 | 8272382 | 8272306 | 8272306 | Missense_Mutation | T | C | p.T33A |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8272220 | 8272385 | 8272306 | 8272306 | Missense_Mutation | T | C | p.T33A |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8272220 | 8272363 | 8272306 | 8272306 | Missense_Mutation | T | C | p.T33A |
| HEC251_ENDOMETRIUM | 8272220 | 8272382 | 8272359 | 8272359 | Missense_Mutation | C | T | p.R15Q |
| HEC251_ENDOMETRIUM | 8272220 | 8272385 | 8272359 | 8272359 | Missense_Mutation | C | T | p.R15Q |
| HEC251_ENDOMETRIUM | 8272220 | 8272363 | 8272359 | 8272359 | Missense_Mutation | C | T | p.R15Q |
| NCIH3122_LUNG | 8260905 | 8261028 | 8260922 | 8260922 | Nonsense_Mutation | G | T | p.C121* |
| HCC2998_LARGE_INTESTINE | 8260905 | 8261028 | 8261008 | 8261008 | Nonsense_Mutation | C | A | p.E93* |
| 8305C_THYROID | 8167503 | 8167772 | 8167504 | 8167504 | Splice_Site | T | C | p.Q443Q |
| TE15_OESOPHAGUS | 8167503 | 8167772 | 8167504 | 8167504 | Splice_Site | T | C | p.Q443Q |
| MZ7MEL_SKIN | 8196746 | 8196844 | 8196843 | 8196843 | Splice_Site | G | A | p.T236I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ICA1 |
| 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 ICA1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ICA1 |
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RelatedDrugs for ICA1 |
| 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 ICA1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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