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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 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 | 20200327 | |
| UniProtAcc | A0A024RA29, | |
| 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 ICA1 |
| 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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ENSG00000003147
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000402384.8 | ICA1-206:protein_coding:ICA1 | 6.240355e+02 | -8.949232e-01 | 8.293758e-12 | 8.372164e-10 |
| CB | UP | ENST00000339809.10 | ICA1-203:nonsense_mediated_decay:ICA1 | 5.377473e+00 | 1.825510e+00 | 1.289851e-02 | 4.273914e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ICA1 |
| 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_139541 | chr7 | 8218479:8218503:8221275:8221398:8228601:8228673 | 8221275:8221398 |
| exon_skip_223601 | chr7 | 8138843:8138881:8138985:8139047:8141765:8141817 | 8138985:8139047 |
| exon_skip_230308 | chr7 | 8141765:8141817:8141969:8142055:8143875:8143970 | 8141969:8142055 |
| exon_skip_236549 | chr7 | 8221353:8221398:8227638:8227851:8228601:8228673 | 8227638:8227851 |
| exon_skip_239769 | chr7 | 8141765:8141817:8141969:8142055:8143875:8143972 | 8141969:8142055 |
| exon_skip_256155 | chr7 | 8143875:8143972:8157116:8157214:8158527:8158652 | 8157116:8157214 |
| exon_skip_277327 | chr7 | 8157116:8157214:8158527:8158652:8218305:8218459 | 8158527:8158652 |
| exon_skip_52793 | chr7 | 8138847:8138881:8138985:8139047:8141765:8141817 | 8138985:8139047 |
| exon_skip_63569 | chr7 | 8138985:8139047:8141765:8141817:8143875:8143972 | 8141765:8141817 |
| 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 ICA1 |
| 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 |
| ENST00000396675 | 8141765 | 8141817 | Frame-shift |
| ENST00000402384 | 8141765 | 8141817 | Frame-shift |
| ENST00000406470 | 8141765 | 8141817 | Frame-shift |
| ENST00000396675 | 8221275 | 8221398 | Frame-shift |
| ENST00000402384 | 8221275 | 8221398 | Frame-shift |
| ENST00000406470 | 8221275 | 8221398 | Frame-shift |
| ENST00000396675 | 8138985 | 8139047 | In-frame |
| ENST00000402384 | 8138985 | 8139047 | In-frame |
| ENST00000406470 | 8138985 | 8139047 | 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 |
| ENST00000396675 | 8141765 | 8141817 | Frame-shift |
| ENST00000402384 | 8141765 | 8141817 | Frame-shift |
| ENST00000406470 | 8141765 | 8141817 | Frame-shift |
| ENST00000396675 | 8221275 | 8221398 | Frame-shift |
| ENST00000402384 | 8221275 | 8221398 | Frame-shift |
| ENST00000406470 | 8221275 | 8221398 | Frame-shift |
| ENST00000396675 | 8138985 | 8139047 | In-frame |
| ENST00000402384 | 8138985 | 8139047 | In-frame |
| ENST00000406470 | 8138985 | 8139047 | In-frame |
| ENST00000396675 | 8157116 | 8157214 | In-frame |
| ENST00000402384 | 8157116 | 8157214 | In-frame |
| ENST00000406470 | 8157116 | 8157214 | 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 |
| ENST00000396675 | 8141765 | 8141817 | Frame-shift |
| ENST00000402384 | 8141765 | 8141817 | Frame-shift |
| ENST00000406470 | 8141765 | 8141817 | Frame-shift |
| ENST00000396675 | 8221275 | 8221398 | Frame-shift |
| ENST00000402384 | 8221275 | 8221398 | Frame-shift |
| ENST00000406470 | 8221275 | 8221398 | Frame-shift |
| ENST00000396675 | 8138985 | 8139047 | In-frame |
| ENST00000402384 | 8138985 | 8139047 | In-frame |
| ENST00000406470 | 8138985 | 8139047 | In-frame |
| ENST00000396675 | 8158527 | 8158652 | In-frame |
| ENST00000402384 | 8158527 | 8158652 | In-frame |
| ENST00000406470 | 8158527 | 8158652 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ICA1 |
p-ENSG00000003147_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 |
| ENST00000396675 | 2150 | 483 | 8138985 | 8139047 | 1023 | 1084 | 318 | 339 |
| ENST00000402384 | 2475 | 483 | 8138985 | 8139047 | 1223 | 1284 | 318 | 339 |
| ENST00000406470 | 2457 | 483 | 8138985 | 8139047 | 1208 | 1269 | 318 | 339 |
| 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 |
| ENST00000396675 | 2150 | 483 | 8157116 | 8157214 | 773 | 870 | 235 | 267 |
| ENST00000402384 | 2475 | 483 | 8157116 | 8157214 | 973 | 1070 | 235 | 267 |
| ENST00000406470 | 2457 | 483 | 8157116 | 8157214 | 958 | 1055 | 235 | 267 |
| ENST00000396675 | 2150 | 483 | 8138985 | 8139047 | 1023 | 1084 | 318 | 339 |
| ENST00000402384 | 2475 | 483 | 8138985 | 8139047 | 1223 | 1284 | 318 | 339 |
| ENST00000406470 | 2457 | 483 | 8138985 | 8139047 | 1208 | 1269 | 318 | 339 |
| 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 |
| ENST00000396675 | 2150 | 483 | 8158527 | 8158652 | 647 | 771 | 193 | 234 |
| ENST00000402384 | 2475 | 483 | 8158527 | 8158652 | 847 | 971 | 193 | 234 |
| ENST00000406470 | 2457 | 483 | 8158527 | 8158652 | 832 | 956 | 193 | 234 |
| ENST00000396675 | 2150 | 483 | 8138985 | 8139047 | 1023 | 1084 | 318 | 339 |
| ENST00000402384 | 2475 | 483 | 8138985 | 8139047 | 1223 | 1284 | 318 | 339 |
| ENST00000406470 | 2457 | 483 | 8138985 | 8139047 | 1208 | 1269 | 318 | 339 |
| 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 |
| 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 |
| 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 |
| Q05084 | 235 | 267 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 235 | 267 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 235 | 267 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 235 | 267 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 235 | 267 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 235 | 267 | 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 |
| 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 |
| Q05084 | 193 | 234 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 193 | 234 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 193 | 234 | 1 | 483 | Chain | ID=PRO_0000084130;Note=Islet cell autoantigen 1 |
| Q05084 | 193 | 234 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 193 | 234 | 51 | 254 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
| Q05084 | 193 | 234 | 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ICA1 |
| 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 ICA1 |
| - 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 ICA1 |
| 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 ICA1 |
| 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 ICA1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | FUBP1 | exon_skip_223601 | -4.436584e-01 | 5.271350e-09 |
| CB | RBM4 | exon_skip_223601 | -5.347857e-01 | 4.555648e-13 |
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RelatedDrugs for ICA1 |
| 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 ICA1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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