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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 AHI1 |
 Gene summary |
| Gene information | Gene symbol | AHI1 | Gene ID | 54806 |
| Gene name | Abelson helper integration site 1 | |
| Synonyms | AHI-1|JBTS3|ORF1|dJ71N10.1 | |
| Cytomap | 6q23.3 | |
| Type of gene | protein-coding | |
| Description | jouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for AHI1 |
| 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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ENSG00000135541
| 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 | UP | ENST00000367799.6 | AHI1-203:protein_coding:AHI1 | 1.067586e+02 | 1.682676e+00 | 4.091167e-12 | 4.779994e-10 |
| CB | DOWN | ENST00000527681.1 | AHI1-211:nonsense_mediated_decay:AHI1 | 2.078405e+01 | -1.386900e+00 | 3.428788e-05 | 2.987101e-04 |
| CB | UP | ENST00000524469.5 | AHI1-210:protein_coding:AHI1 | 5.549304e+00 | 2.677590e+00 | 2.486606e-03 | 1.103991e-02 |
| TC | DOWN | ENST00000527681.1 | AHI1-211:nonsense_mediated_decay:AHI1 | 1.963695e+01 | -1.042606e+00 | 3.080620e-04 | 3.928411e-03 |
| 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 AHI1 |
| 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_104191 | chr6 | 135427167:135427307:135428629:135428759:135429882:135430000 | 135428629:135428759 |
| exon_skip_112712 | chr6 | 135428629:135428759:135429882:135430000:135431208:135431314 | 135429882:135430000 |
| exon_skip_115406 | chr6 | 135300500:135300558:135301408:135301539:135302712:135302753 | 135301408:135301539 |
| exon_skip_118175 | chr6 | 135285579:135285647:135286399:135286548:135290423:135290525 | 135286399:135286548 |
| exon_skip_123627 | chr6 | 135495539:135495709:135495814:135495898:135497188:135497247 | 135495814:135495898 |
| exon_skip_134101 | chr6 | 135495814:135495898:135497188:135497249:135497583:135497649 | 135497188:135497249 |
| exon_skip_13863 | chr6 | 135492252:135492291:135495539:135495709:135495814:135495898 | 135495539:135495709 |
| exon_skip_146254 | chr6 | 135492252:135492291:135497188:135497249:135497583:135497649 | 135497188:135497249 |
| exon_skip_146409 | chr6 | 135358132:135358187:135394776:135394896:135404951:135404977 | 135394776:135394896 |
| exon_skip_150665 | chr6 | 135285579:135285647:135290423:135290525:135300500:135300532 | 135290423:135290525 |
| exon_skip_161496 | chr6 | 135457494:135457713:135463125:135463306:135465814:135466373 | 135463125:135463306 |
| exon_skip_197155 | chr6 | 135290423:135290525:135297432:135297492:135300500:135300532 | 135297432:135297492 |
| exon_skip_210535 | chr6 | 135285381:135285647:135286399:135286548:135290423:135290525 | 135286399:135286548 |
| exon_skip_214023 | chr6 | 135285381:135285647:135290423:135290525:135300500:135300532 | 135290423:135290525 |
| exon_skip_246164 | chr6 | 135323162:135323324:135358132:135358187:135394776:135394896 | 135358132:135358187 |
| exon_skip_256266 | chr6 | 135492252:135492291:135495814:135495898:135497188:135497247 | 135495814:135495898 |
| exon_skip_262608 | chr6 | 135300500:135300558:135301408:135301539:135302712:135302817 | 135301408:135301539 |
| exon_skip_263969 | chr6 | 135492252:135492291:135495814:135495898:135497188:135497249 | 135495814:135495898 |
| exon_skip_293587 | chr6 | 135495539:135495709:135495814:135495898:135497188:135497249 | 135495814:135495898 |
| exon_skip_39433 | chr6 | 135431208:135431314:135433027:135433256:135438375:135438498 | 135433027:135433256 |
| exon_skip_47564 | chr6 | 135300502:135300558:135301408:135301539:135302712:135302753 | 135301408:135301539 |
| exon_skip_54655 | chr6 | 135455734:135455926:135457494:135457713:135463125:135463280 | 135457494:135457713 |
| exon_skip_55754 | chr6 | 135285605:135285647:135290423:135290525:135300500:135300532 | 135290423:135290525 |
| exon_skip_58405 | chr6 | 135433027:135433256:135435157:135435232:135438375:135438498 | 135435157:135435232 |
| exon_skip_5968 | chr6 | 135466320:135466373:135467581:135467634:135490623:135490747 | 135467581:135467634 |
| exon_skip_66559 | chr6 | 135442582:135442714:135447008:135447160:135448290:135448414 | 135447008:135447160 |
| exon_skip_67958 | chr6 | 135318519:135318616:135323162:135323324:135358132:135358187 | 135323162:135323324 |
| exon_skip_77298 | chr6 | 135465814:135466373:135467581:135467634:135490623:135490747 | 135467581:135467634 |
| exon_skip_84637 | chr6 | 135394776:135394896:135404951:135404977:135411348:135411508 | 135404951:135404977 |
| exon_skip_98453 | chr6 | 135301408:135301539:135302712:135302817:135318519:135318616 | 135302712:135302817 |
| exon_skip_99441 | chr6 | 135285381:135285647:135290423:135290525:135297432:135297492 | 135290423:135290525 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_123494 | Mayo_CB | 2.315854e-01 | 3.687013e-01 | -1.371159e-01 | 1.189578e-05 |
| exon_skip_144616 | Mayo_TC | 2.959756e-01 | 4.277027e-01 | -1.317271e-01 | 3.573502e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for AHI1 |
| 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 |
| ENST00000265602 | 135495814 | 135495898 | 3UTR-3UTR |
| ENST00000457866 | 135497188 | 135497249 | 3UTR-3UTR |
| ENST00000265602 | 135290423 | 135290525 | Frame-shift |
| ENST00000367800 | 135290423 | 135290525 | Frame-shift |
| ENST00000457866 | 135290423 | 135290525 | Frame-shift |
| ENST00000265602 | 135323162 | 135323324 | Frame-shift |
| ENST00000367800 | 135323162 | 135323324 | Frame-shift |
| ENST00000457866 | 135323162 | 135323324 | Frame-shift |
| ENST00000265602 | 135358132 | 135358187 | Frame-shift |
| ENST00000367800 | 135358132 | 135358187 | Frame-shift |
| ENST00000457866 | 135358132 | 135358187 | Frame-shift |
| ENST00000265602 | 135428629 | 135428759 | Frame-shift |
| ENST00000367800 | 135428629 | 135428759 | Frame-shift |
| ENST00000457866 | 135428629 | 135428759 | Frame-shift |
| ENST00000265602 | 135429882 | 135430000 | Frame-shift |
| ENST00000367800 | 135429882 | 135430000 | Frame-shift |
| ENST00000457866 | 135429882 | 135430000 | Frame-shift |
| ENST00000265602 | 135457494 | 135457713 | Frame-shift |
| ENST00000367800 | 135457494 | 135457713 | Frame-shift |
| ENST00000457866 | 135457494 | 135457713 | Frame-shift |
| ENST00000265602 | 135463125 | 135463306 | Frame-shift |
| ENST00000367800 | 135463125 | 135463306 | Frame-shift |
| ENST00000457866 | 135463125 | 135463306 | Frame-shift |
| ENST00000265602 | 135404951 | 135404977 | In-frame |
| ENST00000367800 | 135404951 | 135404977 | In-frame |
| ENST00000457866 | 135404951 | 135404977 | In-frame |
| ENST00000265602 | 135447008 | 135447160 | In-frame |
| ENST00000367800 | 135447008 | 135447160 | In-frame |
| ENST00000457866 | 135447008 | 135447160 | In-frame |
| ENST00000265602 | 135467581 | 135467634 | In-frame |
| ENST00000367800 | 135467581 | 135467634 | In-frame |
| ENST00000457866 | 135467581 | 135467634 | 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 |
| ENST00000265602 | 135495814 | 135495898 | 3UTR-3UTR |
| ENST00000457866 | 135497188 | 135497249 | 3UTR-3UTR |
| ENST00000265602 | 135290423 | 135290525 | Frame-shift |
| ENST00000367800 | 135290423 | 135290525 | Frame-shift |
| ENST00000457866 | 135290423 | 135290525 | Frame-shift |
| ENST00000265602 | 135323162 | 135323324 | Frame-shift |
| ENST00000367800 | 135323162 | 135323324 | Frame-shift |
| ENST00000457866 | 135323162 | 135323324 | Frame-shift |
| ENST00000265602 | 135358132 | 135358187 | Frame-shift |
| ENST00000367800 | 135358132 | 135358187 | Frame-shift |
| ENST00000457866 | 135358132 | 135358187 | Frame-shift |
| ENST00000265602 | 135428629 | 135428759 | Frame-shift |
| ENST00000367800 | 135428629 | 135428759 | Frame-shift |
| ENST00000457866 | 135428629 | 135428759 | Frame-shift |
| ENST00000265602 | 135429882 | 135430000 | Frame-shift |
| ENST00000367800 | 135429882 | 135430000 | Frame-shift |
| ENST00000457866 | 135429882 | 135430000 | Frame-shift |
| ENST00000265602 | 135457494 | 135457713 | Frame-shift |
| ENST00000367800 | 135457494 | 135457713 | Frame-shift |
| ENST00000457866 | 135457494 | 135457713 | Frame-shift |
| ENST00000265602 | 135463125 | 135463306 | Frame-shift |
| ENST00000367800 | 135463125 | 135463306 | Frame-shift |
| ENST00000457866 | 135463125 | 135463306 | Frame-shift |
| ENST00000265602 | 135447008 | 135447160 | In-frame |
| ENST00000367800 | 135447008 | 135447160 | In-frame |
| ENST00000457866 | 135447008 | 135447160 | In-frame |
| ENST00000265602 | 135467581 | 135467634 | In-frame |
| ENST00000367800 | 135467581 | 135467634 | In-frame |
| ENST00000457866 | 135467581 | 135467634 | 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 |
| ENST00000265602 | 135495814 | 135495898 | 3UTR-3UTR |
| ENST00000457866 | 135497188 | 135497249 | 3UTR-3UTR |
| ENST00000265602 | 135290423 | 135290525 | Frame-shift |
| ENST00000367800 | 135290423 | 135290525 | Frame-shift |
| ENST00000457866 | 135290423 | 135290525 | Frame-shift |
| ENST00000265602 | 135323162 | 135323324 | Frame-shift |
| ENST00000367800 | 135323162 | 135323324 | Frame-shift |
| ENST00000457866 | 135323162 | 135323324 | Frame-shift |
| ENST00000265602 | 135358132 | 135358187 | Frame-shift |
| ENST00000367800 | 135358132 | 135358187 | Frame-shift |
| ENST00000457866 | 135358132 | 135358187 | Frame-shift |
| ENST00000265602 | 135394776 | 135394896 | Frame-shift |
| ENST00000367800 | 135394776 | 135394896 | Frame-shift |
| ENST00000457866 | 135394776 | 135394896 | Frame-shift |
| ENST00000265602 | 135428629 | 135428759 | Frame-shift |
| ENST00000367800 | 135428629 | 135428759 | Frame-shift |
| ENST00000457866 | 135428629 | 135428759 | Frame-shift |
| ENST00000265602 | 135429882 | 135430000 | Frame-shift |
| ENST00000367800 | 135429882 | 135430000 | Frame-shift |
| ENST00000457866 | 135429882 | 135430000 | Frame-shift |
| ENST00000265602 | 135433027 | 135433256 | Frame-shift |
| ENST00000367800 | 135433027 | 135433256 | Frame-shift |
| ENST00000457866 | 135433027 | 135433256 | Frame-shift |
| ENST00000265602 | 135457494 | 135457713 | Frame-shift |
| ENST00000367800 | 135457494 | 135457713 | Frame-shift |
| ENST00000457866 | 135457494 | 135457713 | Frame-shift |
| ENST00000265602 | 135463125 | 135463306 | Frame-shift |
| ENST00000367800 | 135463125 | 135463306 | Frame-shift |
| ENST00000457866 | 135463125 | 135463306 | Frame-shift |
| ENST00000265602 | 135404951 | 135404977 | In-frame |
| ENST00000367800 | 135404951 | 135404977 | In-frame |
| ENST00000457866 | 135404951 | 135404977 | In-frame |
| ENST00000265602 | 135447008 | 135447160 | In-frame |
| ENST00000367800 | 135447008 | 135447160 | In-frame |
| ENST00000457866 | 135447008 | 135447160 | In-frame |
| ENST00000265602 | 135467581 | 135467634 | In-frame |
| ENST00000367800 | 135467581 | 135467634 | In-frame |
| ENST00000457866 | 135467581 | 135467634 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AHI1 |
p-ENSG00000135541_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 |
| ENST00000265602 | 4352 | 1196 | 135467581 | 135467634 | 531 | 583 | 45 | 62 |
| ENST00000367800 | 5938 | 1196 | 135467581 | 135467634 | 353 | 405 | 45 | 62 |
| ENST00000457866 | 5566 | 1196 | 135467581 | 135467634 | 435 | 487 | 45 | 62 |
| ENST00000265602 | 4352 | 1196 | 135447008 | 135447160 | 2022 | 2173 | 542 | 592 |
| ENST00000367800 | 5938 | 1196 | 135447008 | 135447160 | 1844 | 1995 | 542 | 592 |
| ENST00000457866 | 5566 | 1196 | 135447008 | 135447160 | 1926 | 2077 | 542 | 592 |
| 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 |
| ENST00000265602 | 4352 | 1196 | 135467581 | 135467634 | 531 | 583 | 45 | 62 |
| ENST00000367800 | 5938 | 1196 | 135467581 | 135467634 | 353 | 405 | 45 | 62 |
| ENST00000457866 | 5566 | 1196 | 135467581 | 135467634 | 435 | 487 | 45 | 62 |
| ENST00000265602 | 4352 | 1196 | 135447008 | 135447160 | 2022 | 2173 | 542 | 592 |
| ENST00000367800 | 5938 | 1196 | 135447008 | 135447160 | 1844 | 1995 | 542 | 592 |
| ENST00000457866 | 5566 | 1196 | 135447008 | 135447160 | 1926 | 2077 | 542 | 592 |
| 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 |
| ENST00000265602 | 4352 | 1196 | 135467581 | 135467634 | 531 | 583 | 45 | 62 |
| ENST00000367800 | 5938 | 1196 | 135467581 | 135467634 | 353 | 405 | 45 | 62 |
| ENST00000457866 | 5566 | 1196 | 135467581 | 135467634 | 435 | 487 | 45 | 62 |
| ENST00000265602 | 4352 | 1196 | 135447008 | 135447160 | 2022 | 2173 | 542 | 592 |
| ENST00000367800 | 5938 | 1196 | 135447008 | 135447160 | 1844 | 1995 | 542 | 592 |
| ENST00000457866 | 5566 | 1196 | 135447008 | 135447160 | 1926 | 2077 | 542 | 592 |
| 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 |
| Q8N157 | 45 | 62 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 45 | 62 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 45 | 62 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 45 | 62 | 13 | 45 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N157 | 45 | 62 | 13 | 45 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N157 | 45 | 62 | 13 | 45 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N157 | 45 | 62 | 45 | 45 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N157 | 45 | 62 | 45 | 45 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N157 | 45 | 62 | 45 | 45 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N157 | 45 | 62 | 49 | 49 | Natural variant | ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 |
| Q8N157 | 45 | 62 | 49 | 49 | Natural variant | ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 |
| Q8N157 | 45 | 62 | 49 | 49 | Natural variant | ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 |
| Q8N157 | 542 | 592 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 542 | 592 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 542 | 592 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 542 | 592 | 548 | 548 | Natural variant | ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 |
| Q8N157 | 542 | 592 | 548 | 548 | Natural variant | ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 |
| Q8N157 | 542 | 592 | 548 | 548 | Natural variant | ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 |
| Q8N157 | 542 | 592 | 589 | 1196 | Natural variant | ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 |
| Q8N157 | 542 | 592 | 589 | 1196 | Natural variant | ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 |
| Q8N157 | 542 | 592 | 589 | 1196 | Natural variant | ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 |
| Q8N157 | 542 | 592 | 553 | 553 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N157 | 542 | 592 | 553 | 553 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N157 | 542 | 592 | 553 | 553 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q8N157 | 45 | 62 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 45 | 62 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 45 | 62 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 45 | 62 | 13 | 45 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N157 | 45 | 62 | 13 | 45 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N157 | 45 | 62 | 13 | 45 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N157 | 45 | 62 | 45 | 45 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N157 | 45 | 62 | 45 | 45 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N157 | 45 | 62 | 45 | 45 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N157 | 45 | 62 | 49 | 49 | Natural variant | ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 |
| Q8N157 | 45 | 62 | 49 | 49 | Natural variant | ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 |
| Q8N157 | 45 | 62 | 49 | 49 | Natural variant | ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 |
| Q8N157 | 542 | 592 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 542 | 592 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 542 | 592 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 542 | 592 | 548 | 548 | Natural variant | ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 |
| Q8N157 | 542 | 592 | 548 | 548 | Natural variant | ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 |
| Q8N157 | 542 | 592 | 548 | 548 | Natural variant | ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 |
| Q8N157 | 542 | 592 | 589 | 1196 | Natural variant | ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 |
| Q8N157 | 542 | 592 | 589 | 1196 | Natural variant | ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 |
| Q8N157 | 542 | 592 | 589 | 1196 | Natural variant | ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 |
| Q8N157 | 542 | 592 | 553 | 553 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N157 | 542 | 592 | 553 | 553 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N157 | 542 | 592 | 553 | 553 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q8N157 | 45 | 62 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 45 | 62 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 45 | 62 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 45 | 62 | 13 | 45 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N157 | 45 | 62 | 13 | 45 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N157 | 45 | 62 | 13 | 45 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N157 | 45 | 62 | 45 | 45 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N157 | 45 | 62 | 45 | 45 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N157 | 45 | 62 | 45 | 45 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8N157 | 45 | 62 | 49 | 49 | Natural variant | ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 |
| Q8N157 | 45 | 62 | 49 | 49 | Natural variant | ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 |
| Q8N157 | 45 | 62 | 49 | 49 | Natural variant | ID=VAR_037892;Note=I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=PMID:16453322 |
| Q8N157 | 542 | 592 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 542 | 592 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 542 | 592 | 1 | 1196 | Chain | ID=PRO_0000050838;Note=Jouberin |
| Q8N157 | 542 | 592 | 548 | 548 | Natural variant | ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 |
| Q8N157 | 542 | 592 | 548 | 548 | Natural variant | ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 |
| Q8N157 | 542 | 592 | 548 | 548 | Natural variant | ID=VAR_037893;Note=R->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16155189,ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs35433555,PMID:16155189,PMID:16453322 |
| Q8N157 | 542 | 592 | 589 | 1196 | Natural variant | ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 |
| Q8N157 | 542 | 592 | 589 | 1196 | Natural variant | ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 |
| Q8N157 | 542 | 592 | 589 | 1196 | Natural variant | ID=VAR_080417;Note=In JBTS3. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16453322;Dbxref=dbSNP:rs267606641,PMID:16453322 |
| Q8N157 | 542 | 592 | 553 | 553 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N157 | 542 | 592 | 553 | 553 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N157 | 542 | 592 | 553 | 553 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AHI1 |
| 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 | ENST00000265602 | 135495814 | 135495898 | hsa-miR-562 | chr6:135495834-135495841 | 8mer-1a | chr6:135495822-135495841 | 151.00 | -16.86 |
| Mayo | ENST00000457866 | 135497188 | 135497249 | hsa-miR-185-3p | chr6:135497232-135497239 | 8mer-1a | chr6:135497216-135497239 | 154.00 | -23.83 |
| Mayo | ENST00000457866 | 135497188 | 135497249 | hsa-miR-676-5p | chr6:135497222-135497229 | 8mer-1a | chr6:135497216-135497239 | 154.00 | -23.83 |
| MSBB | ENST00000265602 | 135495814 | 135495898 | hsa-miR-562 | chr6:135495834-135495841 | 8mer-1a | chr6:135495822-135495841 | 151.00 | -16.86 |
| MSBB | ENST00000457866 | 135497188 | 135497249 | hsa-miR-185-3p | chr6:135497232-135497239 | 8mer-1a | chr6:135497216-135497239 | 154.00 | -23.83 |
| MSBB | ENST00000457866 | 135497188 | 135497249 | hsa-miR-676-5p | chr6:135497222-135497229 | 8mer-1a | chr6:135497216-135497239 | 154.00 | -23.83 |
| ROSMAP | ENST00000265602 | 135495814 | 135495898 | hsa-miR-562 | chr6:135495834-135495841 | 8mer-1a | chr6:135495822-135495841 | 151.00 | -16.86 |
| ROSMAP | ENST00000457866 | 135497188 | 135497249 | hsa-miR-185-3p | chr6:135497232-135497239 | 8mer-1a | chr6:135497216-135497239 | 154.00 | -23.83 |
| ROSMAP | ENST00000457866 | 135497188 | 135497249 | hsa-miR-676-5p | chr6:135497222-135497229 | 8mer-1a | chr6:135497216-135497239 | 154.00 | -23.83 |
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SNVs in the skipped exons for AHI1 |
| - 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 AHI1 |
| 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 AHI1 |
| 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 AHI1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_214023 | -5.017347e-01 | 1.615388e-11 |
| CB | CNOT4 | exon_skip_214023 | -5.317490e-01 | 5.504573e-13 |
| CB | RBM3 | exon_skip_214023 | 4.996831e-01 | 2.011200e-11 |
| CB | TRA2A | exon_skip_214023 | -6.221908e-01 | 2.060856e-18 |
| CB | NUP42 | exon_skip_214023 | 4.785381e-01 | 1.771932e-10 |
| CB | TARDBP | exon_skip_123494 | -4.433630e-01 | 4.835027e-09 |
| CB | U2AF2 | exon_skip_123494 | -5.186138e-01 | 2.515873e-12 |
| CB | CNOT4 | exon_skip_123494 | -4.493002e-01 | 2.839946e-09 |
| CB | RBM3 | exon_skip_123494 | 4.511113e-01 | 2.409511e-09 |
| CB | PCBP4 | exon_skip_123494 | 4.798066e-01 | 1.561568e-10 |
| CB | TRA2A | exon_skip_123494 | -5.132136e-01 | 4.612140e-12 |
| CB | FUBP1 | exon_skip_123494 | -4.630017e-01 | 7.994876e-10 |
| CB | HNRNPC | exon_skip_123494 | -4.733982e-01 | 2.941517e-10 |
| CB | TARDBP | exon_skip_26025 | -5.983427e-01 | 8.172199e-17 |
| CB | CNOT4 | exon_skip_26025 | -5.388200e-01 | 2.363131e-13 |
| CB | MBNL1 | exon_skip_26025 | -4.694201e-01 | 4.329627e-10 |
| CB | PCBP4 | exon_skip_26025 | 4.680958e-01 | 4.918818e-10 |
| CB | RC3H1 | exon_skip_26025 | -4.399907e-01 | 6.511699e-09 |
| CB | SRSF4 | exon_skip_26025 | -4.839204e-01 | 1.032757e-10 |
| DLPFC | PCBP4 | exon_skip_123494 | 4.238657e-01 | 1.817598e-14 |
| IFG | RBM3 | exon_skip_214023 | 5.605296e-01 | 1.919120e-03 |
| IFG | DAZAP1 | exon_skip_139671 | -4.765488e-01 | 2.895696e-02 |
| IFG | RBM6 | exon_skip_139671 | -4.526232e-01 | 3.937075e-02 |
| IFG | RBM5 | exon_skip_139671 | -5.125388e-01 | 1.751637e-02 |
| IFG | PCBP2 | exon_skip_139671 | -5.118876e-01 | 1.768465e-02 |
| PCC | RBM3 | exon_skip_150665 | 4.539754e-01 | 8.116940e-12 |
| STG | PCBP4 | exon_skip_123494 | 4.248526e-01 | 7.709535e-05 |
| TC | RBM3 | exon_skip_55754 | 5.375039e-01 | 2.328721e-13 |
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RelatedDrugs for AHI1 |
| 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 AHI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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