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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for ICA1L |
Gene summary |
Gene information | Gene symbol | ICA1L | Gene ID | 130026 |
Gene name | islet cell autoantigen 1 like | |
Synonyms | ALS2CR14|ALS2CR15 | |
Cytomap | 2q33.2 | |
Type of gene | protein-coding | |
Description | islet cell autoantigen 1-like proteinIca69-related proteinamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15amyotrophic lateral sclerosis 2 chromosomal r | |
Modification date | 20200313 | |
UniProtAcc | C9J0T2, C9J101, | |
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 ICA1L |
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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000418208.5 | ICA1L-206:protein_coding:ICA1L | 9.509261e+00 | 1.228953e+00 | 2.115349e-10 | 1.188480e-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 ICA1L |
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_111589 | chr2 | 202815911:202816009:202817418:202817543:202819701:202819899 | 202817418:202817543 |
exon_skip_12326 | chr2 | 202819887:202819899:202821358:202821481:202825695:202825748 | 202821358:202821481 |
exon_skip_135767 | chr2 | 202819887:202819899:202821358:202821481:202825695:202825746 | 202821358:202821481 |
exon_skip_164463 | chr2 | 202821427:202821481:202825695:202825767:202828848:202829016 | 202825695:202825767 |
exon_skip_165966 | chr2 | 202788990:202789087:202796890:202796964:202811746:202811789 | 202796890:202796964 |
exon_skip_167707 | chr2 | 202828848:202829016:202870530:202870656:202871619:202871985 | 202870530:202870656 |
exon_skip_168032 | chr2 | 202869536:202869605:202870530:202870656:202871619:202871735 | 202870530:202870656 |
exon_skip_173948 | chr2 | 202779070:202779648:202785918:202786007:202788830:202789087 | 202785918:202786007 |
exon_skip_178854 | chr2 | 202869536:202869605:202870530:202870656:202871619:202871642 | 202870530:202870656 |
exon_skip_185000 | chr2 | 202869536:202869605:202870530:202870656:202870930:202871046 | 202870530:202870656 |
exon_skip_192190 | chr2 | 202828848:202829016:202860147:202860244:202869536:202869605 | 202860147:202860244 |
exon_skip_254637 | chr2 | 202785918:202786007:202788830:202789087:202796890:202796964 | 202788830:202789087 |
exon_skip_258933 | chr2 | 202828848:202829016:202869536:202869605:202871619:202871985 | 202869536:202869605 |
exon_skip_275178 | chr2 | 202828848:202829016:202869536:202869605:202870530:202870656 | 202869536:202869605 |
exon_skip_4220 | chr2 | 202821427:202821481:202825695:202825748:202828848:202829016 | 202825695:202825748 |
exon_skip_44678 | chr2 | 202796890:202796964:202811746:202811789:202814702:202814784 | 202811746:202811789 |
exon_skip_45327 | chr2 | 202869536:202869605:202870530:202870656:202871191:202871246 | 202870530:202870656 |
exon_skip_47783 | chr2 | 202811746:202811789:202814702:202814784:202815911:202816009 | 202814702:202814784 |
exon_skip_90318 | chr2 | 202828848:202829016:202870530:202870656:202870930:202871046 | 202870530:202870656 |
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 |
exon_skip_135767 | Mayo_CB | 7.502597e-01 | 8.820000e-01 | -1.317403e-01 | 1.178869e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for ICA1L |
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 |
ENST00000392237 | 202870530 | 202870656 | 3UTR-3UTR |
ENST00000358299 | 202811746 | 202811789 | Frame-shift |
ENST00000392237 | 202811746 | 202811789 | Frame-shift |
ENST00000617388 | 202811746 | 202811789 | Frame-shift |
ENST00000358299 | 202821358 | 202821481 | Frame-shift |
ENST00000392237 | 202821358 | 202821481 | Frame-shift |
ENST00000617388 | 202821358 | 202821481 | Frame-shift |
ENST00000358299 | 202825695 | 202825767 | Frame-shift |
ENST00000392237 | 202825695 | 202825767 | Frame-shift |
ENST00000617388 | 202825695 | 202825767 | Frame-shift |
ENST00000358299 | 202785918 | 202786007 | In-frame |
ENST00000392237 | 202785918 | 202786007 | In-frame |
ENST00000617388 | 202785918 | 202786007 | In-frame |
ENST00000358299 | 202788830 | 202789087 | In-frame |
ENST00000392237 | 202788830 | 202789087 | In-frame |
ENST00000617388 | 202788830 | 202789087 | In-frame |
ENST00000358299 | 202796890 | 202796964 | In-frame |
ENST00000392237 | 202796890 | 202796964 | In-frame |
ENST00000617388 | 202796890 | 202796964 | In-frame |
ENST00000358299 | 202817418 | 202817543 | In-frame |
ENST00000392237 | 202817418 | 202817543 | In-frame |
ENST00000617388 | 202817418 | 202817543 | 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 |
ENST00000392237 | 202870530 | 202870656 | 3UTR-3UTR |
ENST00000358299 | 202811746 | 202811789 | Frame-shift |
ENST00000392237 | 202811746 | 202811789 | Frame-shift |
ENST00000617388 | 202811746 | 202811789 | Frame-shift |
ENST00000358299 | 202821358 | 202821481 | Frame-shift |
ENST00000392237 | 202821358 | 202821481 | Frame-shift |
ENST00000617388 | 202821358 | 202821481 | Frame-shift |
ENST00000358299 | 202825695 | 202825767 | Frame-shift |
ENST00000392237 | 202825695 | 202825767 | Frame-shift |
ENST00000617388 | 202825695 | 202825767 | Frame-shift |
ENST00000358299 | 202785918 | 202786007 | In-frame |
ENST00000392237 | 202785918 | 202786007 | In-frame |
ENST00000617388 | 202785918 | 202786007 | In-frame |
ENST00000358299 | 202788830 | 202789087 | In-frame |
ENST00000392237 | 202788830 | 202789087 | In-frame |
ENST00000617388 | 202788830 | 202789087 | In-frame |
ENST00000358299 | 202796890 | 202796964 | In-frame |
ENST00000392237 | 202796890 | 202796964 | In-frame |
ENST00000617388 | 202796890 | 202796964 | 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 |
ENST00000392237 | 202870530 | 202870656 | 3UTR-3UTR |
ENST00000358299 | 202811746 | 202811789 | Frame-shift |
ENST00000392237 | 202811746 | 202811789 | Frame-shift |
ENST00000617388 | 202811746 | 202811789 | Frame-shift |
ENST00000358299 | 202814702 | 202814784 | Frame-shift |
ENST00000392237 | 202814702 | 202814784 | Frame-shift |
ENST00000617388 | 202814702 | 202814784 | Frame-shift |
ENST00000358299 | 202821358 | 202821481 | Frame-shift |
ENST00000392237 | 202821358 | 202821481 | Frame-shift |
ENST00000617388 | 202821358 | 202821481 | Frame-shift |
ENST00000358299 | 202825695 | 202825767 | Frame-shift |
ENST00000392237 | 202825695 | 202825767 | Frame-shift |
ENST00000617388 | 202825695 | 202825767 | Frame-shift |
ENST00000358299 | 202785918 | 202786007 | In-frame |
ENST00000392237 | 202785918 | 202786007 | In-frame |
ENST00000617388 | 202785918 | 202786007 | In-frame |
ENST00000358299 | 202788830 | 202789087 | In-frame |
ENST00000392237 | 202788830 | 202789087 | In-frame |
ENST00000617388 | 202788830 | 202789087 | In-frame |
ENST00000358299 | 202796890 | 202796964 | In-frame |
ENST00000392237 | 202796890 | 202796964 | In-frame |
ENST00000617388 | 202796890 | 202796964 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ICA1L |
p-ENSG00000163596_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 |
ENST00000358299 | 3474 | 482 | 202817418 | 202817543 | 933 | 1057 | 186 | 227 |
ENST00000392237 | 5190 | 482 | 202817418 | 202817543 | 717 | 841 | 186 | 227 |
ENST00000617388 | 8168 | 482 | 202817418 | 202817543 | 878 | 1002 | 186 | 227 |
ENST00000358299 | 3474 | 482 | 202796890 | 202796964 | 1285 | 1358 | 303 | 328 |
ENST00000392237 | 5190 | 482 | 202796890 | 202796964 | 1069 | 1142 | 303 | 328 |
ENST00000617388 | 8168 | 482 | 202796890 | 202796964 | 1230 | 1303 | 303 | 328 |
ENST00000358299 | 3474 | 482 | 202788830 | 202789087 | 1360 | 1616 | 328 | 414 |
ENST00000392237 | 5190 | 482 | 202788830 | 202789087 | 1144 | 1400 | 328 | 414 |
ENST00000617388 | 8168 | 482 | 202788830 | 202789087 | 1305 | 1561 | 328 | 414 |
ENST00000358299 | 3474 | 482 | 202785918 | 202786007 | 1618 | 1706 | 414 | 444 |
ENST00000392237 | 5190 | 482 | 202785918 | 202786007 | 1402 | 1490 | 414 | 444 |
ENST00000617388 | 8168 | 482 | 202785918 | 202786007 | 1563 | 1651 | 414 | 444 |
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 |
ENST00000358299 | 3474 | 482 | 202796890 | 202796964 | 1285 | 1358 | 303 | 328 |
ENST00000392237 | 5190 | 482 | 202796890 | 202796964 | 1069 | 1142 | 303 | 328 |
ENST00000617388 | 8168 | 482 | 202796890 | 202796964 | 1230 | 1303 | 303 | 328 |
ENST00000358299 | 3474 | 482 | 202788830 | 202789087 | 1360 | 1616 | 328 | 414 |
ENST00000392237 | 5190 | 482 | 202788830 | 202789087 | 1144 | 1400 | 328 | 414 |
ENST00000617388 | 8168 | 482 | 202788830 | 202789087 | 1305 | 1561 | 328 | 414 |
ENST00000358299 | 3474 | 482 | 202785918 | 202786007 | 1618 | 1706 | 414 | 444 |
ENST00000392237 | 5190 | 482 | 202785918 | 202786007 | 1402 | 1490 | 414 | 444 |
ENST00000617388 | 8168 | 482 | 202785918 | 202786007 | 1563 | 1651 | 414 | 444 |
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 |
ENST00000358299 | 3474 | 482 | 202796890 | 202796964 | 1285 | 1358 | 303 | 328 |
ENST00000392237 | 5190 | 482 | 202796890 | 202796964 | 1069 | 1142 | 303 | 328 |
ENST00000617388 | 8168 | 482 | 202796890 | 202796964 | 1230 | 1303 | 303 | 328 |
ENST00000358299 | 3474 | 482 | 202788830 | 202789087 | 1360 | 1616 | 328 | 414 |
ENST00000392237 | 5190 | 482 | 202788830 | 202789087 | 1144 | 1400 | 328 | 414 |
ENST00000617388 | 8168 | 482 | 202788830 | 202789087 | 1305 | 1561 | 328 | 414 |
ENST00000358299 | 3474 | 482 | 202785918 | 202786007 | 1618 | 1706 | 414 | 444 |
ENST00000392237 | 5190 | 482 | 202785918 | 202786007 | 1402 | 1490 | 414 | 444 |
ENST00000617388 | 8168 | 482 | 202785918 | 202786007 | 1563 | 1651 | 414 | 444 |
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 |
Q8NDH6 | 186 | 227 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 186 | 227 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 186 | 227 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 186 | 227 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 186 | 227 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 186 | 227 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 186 | 227 | 44 | 247 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
Q8NDH6 | 186 | 227 | 44 | 247 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
Q8NDH6 | 186 | 227 | 44 | 247 | Domain | Note=AH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00294 |
Q8NDH6 | 303 | 328 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 303 | 328 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 303 | 328 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 303 | 328 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 303 | 328 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 303 | 328 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 328 | 414 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 328 | 414 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 328 | 414 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 334 | 334 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDH6 | 328 | 414 | 334 | 334 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDH6 | 328 | 414 | 334 | 334 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDH6 | 414 | 444 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 414 | 444 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 414 | 444 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 414 | 444 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 414 | 444 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 414 | 444 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
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 |
Q8NDH6 | 303 | 328 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 303 | 328 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 303 | 328 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 303 | 328 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 303 | 328 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 303 | 328 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 328 | 414 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 328 | 414 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 328 | 414 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 334 | 334 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDH6 | 328 | 414 | 334 | 334 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDH6 | 328 | 414 | 334 | 334 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDH6 | 414 | 444 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 414 | 444 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 414 | 444 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 414 | 444 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 414 | 444 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 414 | 444 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
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 |
Q8NDH6 | 303 | 328 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 303 | 328 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 303 | 328 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 303 | 328 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 303 | 328 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 303 | 328 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 328 | 414 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 328 | 414 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 328 | 414 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 328 | 414 | 334 | 334 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDH6 | 328 | 414 | 334 | 334 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDH6 | 328 | 414 | 334 | 334 | Sequence conflict | Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8NDH6 | 414 | 444 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 414 | 444 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 414 | 444 | 188 | 482 | Alternative sequence | ID=VSP_017107;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NDH6 | 414 | 444 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 414 | 444 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
Q8NDH6 | 414 | 444 | 1 | 482 | Chain | ID=PRO_0000076175;Note=Islet cell autoantigen 1-like protein |
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3'-UTR located exon skipping events that lost miRNA binding sites in ICA1L |
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 |
Mayo | ENST00000392237 | 202870530 | 202870656 | hsa-miR-16-1-3p | chr2:202870608-202870615 | 8mer-1a | chr2:202870594-202870615 | 145.00 | -9.19 |
Mayo | ENST00000392237 | 202870530 | 202870656 | hsa-miR-193b-3p | chr2:202870549-202870556 | 8mer-1a | chr2:202870532-202870556 | 150.00 | -19.89 |
Mayo | ENST00000392237 | 202870530 | 202870656 | hsa-miR-193a-3p | chr2:202870549-202870556 | 8mer-1a | chr2:202870532-202870556 | 150.00 | -19.89 |
Mayo | ENST00000392237 | 202870530 | 202870656 | hsa-miR-449b-3p | chr2:202870593-202870600 | 8mer-1a | chr2:202870582-202870606 | 151.00 | -18.09 |
MSBB | ENST00000392237 | 202870530 | 202870656 | hsa-miR-16-1-3p | chr2:202870608-202870615 | 8mer-1a | chr2:202870594-202870615 | 145.00 | -9.19 |
MSBB | ENST00000392237 | 202870530 | 202870656 | hsa-miR-193b-3p | chr2:202870549-202870556 | 8mer-1a | chr2:202870532-202870556 | 150.00 | -19.89 |
MSBB | ENST00000392237 | 202870530 | 202870656 | hsa-miR-193a-3p | chr2:202870549-202870556 | 8mer-1a | chr2:202870532-202870556 | 150.00 | -19.89 |
MSBB | ENST00000392237 | 202870530 | 202870656 | hsa-miR-449b-3p | chr2:202870593-202870600 | 8mer-1a | chr2:202870582-202870606 | 151.00 | -18.09 |
ROSMAP | ENST00000392237 | 202870530 | 202870656 | hsa-miR-16-1-3p | chr2:202870608-202870615 | 8mer-1a | chr2:202870594-202870615 | 145.00 | -9.19 |
ROSMAP | ENST00000392237 | 202870530 | 202870656 | hsa-miR-193b-3p | chr2:202870549-202870556 | 8mer-1a | chr2:202870532-202870556 | 150.00 | -19.89 |
ROSMAP | ENST00000392237 | 202870530 | 202870656 | hsa-miR-193a-3p | chr2:202870549-202870556 | 8mer-1a | chr2:202870532-202870556 | 150.00 | -19.89 |
ROSMAP | ENST00000392237 | 202870530 | 202870656 | hsa-miR-449b-3p | chr2:202870593-202870600 | 8mer-1a | chr2:202870582-202870606 | 151.00 | -18.09 |
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SNVs in the skipped exons for ICA1L |
- 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 ICA1L |
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 ICA1L |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
PCC | exon_skip_12326 | rs6725887 | chr2:202881162 | 5.498480e-05 | 1.077109e-02 |
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Correlation with RNA binding proteins (RBPs) for ICA1L |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TRA2A | exon_skip_165966 | -4.578887e-01 | 2.665167e-09 |
CB | ZNF638 | exon_skip_135767 | -4.246292e-01 | 3.885891e-07 |
CB | SAMD4A | exon_skip_135767 | -4.803966e-01 | 5.564544e-09 |
CB | TRA2A | exon_skip_135767 | -4.684077e-01 | 1.479589e-08 |
CB | FUBP1 | exon_skip_135767 | -4.397657e-01 | 1.321663e-07 |
IFG | TRA2A | exon_skip_165966 | -4.177122e-01 | 2.698156e-02 |
IFG | PABPC4 | exon_skip_165966 | -4.130250e-01 | 2.892793e-02 |
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RelatedDrugs for ICA1L |
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 ICA1L |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |