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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 APBA2 |
 Gene summary |
| Gene information | Gene symbol | APBA2 | Gene ID | 321 |
| Gene name | amyloid beta precursor protein binding family A member 2 | |
| Synonyms | D15S1518E|HsT16821|LIN-10|MGC:14091|MINT2|X11-BETA|X11L | |
| Cytomap | 15q13.1 | |
| Type of gene | protein-coding | |
| Description | amyloid-beta A4 precursor protein-binding family A member 2X11-like proteinadapter protein X11betaamyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)mint-2neuron-specific X11L proteinneuronal munc18-1-interacting protein 2pho | |
| 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 APBA2 |
| 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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ENSG00000034053
| 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 |
| STG | UP | ENST00000411764.5 | APBA2-202:protein_coding:APBA2 | 2.612853e+01 | 2.359695e+01 | 3.133368e-32 | 1.116909e-28 |
| CB | UP | ENST00000558358.1 | APBA2-206:protein_coding:APBA2 | 5.036697e+00 | 1.128350e+00 | 1.087100e-03 | 5.539950e-03 |
| CB | DOWN | ENST00000411764.5 | APBA2-202:protein_coding:APBA2 | 2.215328e+02 | -3.211565e+00 | 1.147032e-02 | 3.890208e-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 APBA2 |
| 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_103812 | chr15 | 29108270:29108389:29113876:29114016:29117062:29117717 | 29113876:29114016 |
| exon_skip_109945 | chr15 | 29106607:29106819:29108270:29108389:29113876:29114016 | 29108270:29108389 |
| exon_skip_118293 | chr15 | 29076055:29076091:29093075:29093220:29098490:29098576 | 29093075:29093220 |
| exon_skip_126879 | chr15 | 28886163:28886278:28921640:28921749:28995753:28995806 | 28921640:28921749 |
| exon_skip_129991 | chr15 | 28921640:28921718:28995753:28995806:29053845:29053897 | 28995753:28995806 |
| exon_skip_130054 | chr15 | 28893874:28894044:28895520:28895609:28921640:28921718 | 28895520:28895609 |
| exon_skip_134277 | chr15 | 29101599:29101784:29105379:29105558:29106607:29106819 | 29105379:29105558 |
| exon_skip_195479 | chr15 | 28886163:28886278:28893874:28894044:28895520:28895609 | 28893874:28894044 |
| exon_skip_223968 | chr15 | 28995757:28995806:29053845:29054835:29074921:29075001 | 29053845:29054835 |
| exon_skip_45253 | chr15 | 28886163:28886278:28895520:28895609:28921640:28921668 | 28895520:28895609 |
| exon_skip_53521 | chr15 | 28886236:28886278:28895520:28895609:28921640:28921718 | 28895520:28895609 |
| exon_skip_57590 | chr15 | 28995753:28995806:29053845:29054835:29074921:29075001 | 29053845:29054835 |
| exon_skip_65113 | chr15 | 29093075:29093220:29094278:29094313:29098490:29098576 | 29094278:29094313 |
| exon_skip_67570 | chr15 | 28886163:28886278:28895520:28895609:28921640:28921718 | 28895520:28895609 |
| exon_skip_72781 | chr15 | 28886163:28886278:28895520:28895609:28921640:28921688 | 28895520:28895609 |
| exon_skip_81303 | chr15 | 28895520:28895609:28921640:28921749:28995753:28995806 | 28921640:28921749 |
| exon_skip_82381 | chr15 | 28921640:28921749:28995753:28995806:29053845:29053897 | 28995753:28995806 |
| exon_skip_96197 | chr15 | 29093081:29093220:29094278:29094313:29098490:29098576 | 29094278:29094313 |
| 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_96197 | MSBB_STG | 7.392647e-01 | 8.545833e-01 | -1.153186e-01 | 1.042833e-02 |
| exon_skip_96197 | MSBB_PG | 6.196970e-01 | 8.177358e-01 | -1.980389e-01 | 2.092077e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for APBA2 |
| 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 |
| ENST00000558259 | 29053845 | 29054835 | 5CDS-5UTR |
| ENST00000558402 | 29053845 | 29054835 | 5CDS-5UTR |
| ENST00000561069 | 29053845 | 29054835 | 5CDS-5UTR |
| ENST00000558402 | 28895520 | 28895609 | 5UTR-5UTR |
| ENST00000558259 | 28995753 | 28995806 | 5UTR-5UTR |
| ENST00000558402 | 28995753 | 28995806 | 5UTR-5UTR |
| ENST00000561069 | 28995753 | 28995806 | 5UTR-5UTR |
| ENST00000558259 | 29094278 | 29094313 | In-frame |
| ENST00000558402 | 29094278 | 29094313 | In-frame |
| ENST00000561069 | 29094278 | 29094313 | In-frame |
| ENST00000558259 | 29105379 | 29105558 | In-frame |
| ENST00000558402 | 29105379 | 29105558 | In-frame |
| ENST00000561069 | 29105379 | 29105558 | In-frame |
| ENST00000558259 | 29108270 | 29108389 | In-frame |
| ENST00000558402 | 29108270 | 29108389 | In-frame |
| ENST00000561069 | 29108270 | 29108389 | In-frame |
| ENST00000558259 | 29113876 | 29114016 | In-frame |
| ENST00000558402 | 29113876 | 29114016 | In-frame |
| ENST00000561069 | 29113876 | 29114016 | 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 |
| ENST00000558259 | 29053845 | 29054835 | 5CDS-5UTR |
| ENST00000558402 | 29053845 | 29054835 | 5CDS-5UTR |
| ENST00000561069 | 29053845 | 29054835 | 5CDS-5UTR |
| ENST00000558402 | 28895520 | 28895609 | 5UTR-5UTR |
| ENST00000558259 | 28995753 | 28995806 | 5UTR-5UTR |
| ENST00000558402 | 28995753 | 28995806 | 5UTR-5UTR |
| ENST00000558259 | 29094278 | 29094313 | In-frame |
| ENST00000558402 | 29094278 | 29094313 | In-frame |
| ENST00000561069 | 29094278 | 29094313 | 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 |
| ENST00000558259 | 29053845 | 29054835 | 5CDS-5UTR |
| ENST00000558402 | 29053845 | 29054835 | 5CDS-5UTR |
| ENST00000561069 | 29053845 | 29054835 | 5CDS-5UTR |
| ENST00000558402 | 28895520 | 28895609 | 5UTR-5UTR |
| ENST00000558402 | 28921640 | 28921749 | 5UTR-5UTR |
| ENST00000558259 | 28995753 | 28995806 | 5UTR-5UTR |
| ENST00000558402 | 28995753 | 28995806 | 5UTR-5UTR |
| ENST00000561069 | 28995753 | 28995806 | 5UTR-5UTR |
| ENST00000558259 | 29094278 | 29094313 | In-frame |
| ENST00000558402 | 29094278 | 29094313 | In-frame |
| ENST00000561069 | 29094278 | 29094313 | In-frame |
| ENST00000558259 | 29108270 | 29108389 | In-frame |
| ENST00000558402 | 29108270 | 29108389 | In-frame |
| ENST00000561069 | 29108270 | 29108389 | In-frame |
| ENST00000558259 | 29113876 | 29114016 | In-frame |
| ENST00000558402 | 29113876 | 29114016 | In-frame |
| ENST00000561069 | 29113876 | 29114016 | In-frame |
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Infer the effects of exon skipping event on protein functional features for APBA2 |
p-ENSG00000034053_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 |
| ENST00000558259 | 3652 | 749 | 29094278 | 29094313 | 1424 | 1458 | 405 | 417 |
| ENST00000558402 | 4048 | 749 | 29094278 | 29094313 | 1816 | 1850 | 405 | 417 |
| ENST00000561069 | 3155 | 749 | 29094278 | 29094313 | 1521 | 1555 | 405 | 417 |
| ENST00000558259 | 3652 | 749 | 29105379 | 29105558 | 1733 | 1911 | 508 | 568 |
| ENST00000558402 | 4048 | 749 | 29105379 | 29105558 | 2125 | 2303 | 508 | 568 |
| ENST00000561069 | 3155 | 749 | 29105379 | 29105558 | 1830 | 2008 | 508 | 568 |
| ENST00000558259 | 3652 | 749 | 29108270 | 29108389 | 2126 | 2244 | 639 | 679 |
| ENST00000558402 | 4048 | 749 | 29108270 | 29108389 | 2518 | 2636 | 639 | 679 |
| ENST00000561069 | 3155 | 749 | 29108270 | 29108389 | 2223 | 2341 | 639 | 679 |
| ENST00000558259 | 3652 | 749 | 29113876 | 29114016 | 2246 | 2385 | 679 | 726 |
| ENST00000558402 | 4048 | 749 | 29113876 | 29114016 | 2638 | 2777 | 679 | 726 |
| ENST00000561069 | 3155 | 749 | 29113876 | 29114016 | 2343 | 2482 | 679 | 726 |
| 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 |
| ENST00000558259 | 3652 | 749 | 29094278 | 29094313 | 1424 | 1458 | 405 | 417 |
| ENST00000558402 | 4048 | 749 | 29094278 | 29094313 | 1816 | 1850 | 405 | 417 |
| ENST00000561069 | 3155 | 749 | 29094278 | 29094313 | 1521 | 1555 | 405 | 417 |
| 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 |
| ENST00000558259 | 3652 | 749 | 29094278 | 29094313 | 1424 | 1458 | 405 | 417 |
| ENST00000558402 | 4048 | 749 | 29094278 | 29094313 | 1816 | 1850 | 405 | 417 |
| ENST00000561069 | 3155 | 749 | 29094278 | 29094313 | 1521 | 1555 | 405 | 417 |
| ENST00000558259 | 3652 | 749 | 29108270 | 29108389 | 2126 | 2244 | 639 | 679 |
| ENST00000558402 | 4048 | 749 | 29108270 | 29108389 | 2518 | 2636 | 639 | 679 |
| ENST00000561069 | 3155 | 749 | 29108270 | 29108389 | 2223 | 2341 | 639 | 679 |
| ENST00000558259 | 3652 | 749 | 29113876 | 29114016 | 2246 | 2385 | 679 | 726 |
| ENST00000558402 | 4048 | 749 | 29113876 | 29114016 | 2638 | 2777 | 679 | 726 |
| ENST00000561069 | 3155 | 749 | 29113876 | 29114016 | 2343 | 2482 | 679 | 726 |
| 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 |
| Q99767 | 405 | 417 | 406 | 417 | Alternative sequence | ID=VSP_045692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99767 | 405 | 417 | 406 | 417 | Alternative sequence | ID=VSP_045692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99767 | 405 | 417 | 406 | 417 | Alternative sequence | ID=VSP_045692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99767 | 405 | 417 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 405 | 417 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 405 | 417 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 405 | 417 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 405 | 417 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 405 | 417 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 508 | 568 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 508 | 568 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 508 | 568 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 508 | 568 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 508 | 568 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 508 | 568 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 508 | 568 | 568 | 654 | Domain | Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 508 | 568 | 568 | 654 | Domain | Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 508 | 568 | 568 | 654 | Domain | Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 639 | 679 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 639 | 679 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 639 | 679 | 568 | 654 | Domain | Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 568 | 654 | Domain | Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 568 | 654 | Domain | Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 679 | 726 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 679 | 726 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 679 | 726 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 679 | 726 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 679 | 726 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 679 | 726 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| 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 |
| Q99767 | 405 | 417 | 406 | 417 | Alternative sequence | ID=VSP_045692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99767 | 405 | 417 | 406 | 417 | Alternative sequence | ID=VSP_045692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99767 | 405 | 417 | 406 | 417 | Alternative sequence | ID=VSP_045692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99767 | 405 | 417 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 405 | 417 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 405 | 417 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 405 | 417 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 405 | 417 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 405 | 417 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| 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 |
| Q99767 | 405 | 417 | 406 | 417 | Alternative sequence | ID=VSP_045692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99767 | 405 | 417 | 406 | 417 | Alternative sequence | ID=VSP_045692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99767 | 405 | 417 | 406 | 417 | Alternative sequence | ID=VSP_045692;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99767 | 405 | 417 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 405 | 417 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 405 | 417 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 405 | 417 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 405 | 417 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 405 | 417 | 368 | 555 | Domain | Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| Q99767 | 639 | 679 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 639 | 679 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 639 | 679 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 639 | 679 | 568 | 654 | Domain | Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 568 | 654 | Domain | Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 568 | 654 | Domain | Note=PDZ 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 639 | 679 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 679 | 726 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 679 | 726 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 679 | 726 | 1 | 749 | Chain | ID=PRO_0000064616;Note=Amyloid-beta A4 precursor protein-binding family A member 2 |
| Q99767 | 679 | 726 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 679 | 726 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q99767 | 679 | 726 | 659 | 734 | Domain | Note=PDZ 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
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3'-UTR located exon skipping events that lost miRNA binding sites in APBA2 |
| 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 APBA2 |
| - 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 APBA2 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_65113 | -3.906681e-01 | 3.983369e-02 | chr15 | + | 29093075 | 29093220 | 29094278 | 29094313 | 29098490 | 29098576 |
| CDR | MSBB | IFG | exon_skip_65113 | -3.779140e-01 | 4.739108e-02 | chr15 | + | 29093075 | 29093220 | 29094278 | 29094313 | 29098490 | 29098576 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for APBA2 |
| 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 APBA2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_96197 | 5.867970e-01 | 4.360276e-16 |
| CB | PABPC1 | exon_skip_96197 | 5.709386e-01 | 3.912946e-15 |
| CB | SRSF9 | exon_skip_96197 | 5.904807e-01 | 2.574225e-16 |
| CB | SART3 | exon_skip_96197 | 4.253344e-01 | 2.288372e-08 |
| DLPFC | MBNL1 | exon_skip_65113 | 4.212527e-01 | 5.152510e-16 |
| HCC | ZNF326 | exon_skip_96197 | -6.297212e-01 | 1.866395e-31 |
| HCC | SNRNP70 | exon_skip_96197 | -5.824470e-01 | 4.198101e-26 |
| HCC | PABPC1 | exon_skip_96197 | -4.340814e-01 | 6.322744e-14 |
| HCC | PABPC4 | exon_skip_96197 | -4.397954e-01 | 2.713887e-14 |
| IFG | NUP42 | exon_skip_65113 | 5.588165e-01 | 1.995110e-03 |
| PCC | ZNF326 | exon_skip_65113 | -4.951734e-01 | 1.879737e-14 |
| PCC | PABPC1 | exon_skip_65113 | -5.041864e-01 | 5.268793e-15 |
| PG | MBNL1 | exon_skip_96197 | 5.050650e-01 | 2.278405e-13 |
| PG | NUP42 | exon_skip_96197 | 5.496089e-01 | 5.414901e-16 |
| PG | SRSF9 | exon_skip_96197 | 4.949732e-01 | 7.958057e-13 |
| PG | SART3 | exon_skip_96197 | 5.382286e-01 | 2.760949e-15 |
| STG | NUP42 | exon_skip_96197 | 4.345686e-01 | 1.502269e-05 |
| TC | ZNF326 | exon_skip_96197 | -4.018993e-01 | 1.381969e-07 |
| TC | MBNL1 | exon_skip_96197 | 4.504523e-01 | 2.277138e-09 |
| TC | NUP42 | exon_skip_96197 | 7.207429e-01 | 6.274282e-27 |
| TC | SRSF9 | exon_skip_96197 | 4.429185e-01 | 4.495622e-09 |
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RelatedDrugs for APBA2 |
| 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 APBA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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