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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 APBB2 |
 Gene summary |
| Gene information | Gene symbol | APBB2 | Gene ID | 323 |
| Gene name | amyloid beta precursor protein binding family B member 2 | |
| Synonyms | FE65L|FE65L1 | |
| Cytomap | 4p14-p13 | |
| Type of gene | protein-coding | |
| Description | amyloid-beta A4 precursor protein-binding family B member 2Fe65-like 1protein Fe65-like 1 | |
| Modification date | 20200327 | |
| UniProtAcc | A0A0S2Z3A0, A0A0S2Z3A2, A0A1D5RMR3, | |
| 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 APBB2 |
| 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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ENSG00000163697
| 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 |
| STG | UP | ENST00000509475.5 | APBB2-218:retained_intron:APBB2 | 3.799024e+01 | 1.571819e+00 | 7.820487e-05 | 9.555329e-03 |
| CB | UP | ENST00000503264.5 | APBB2-205:protein_coding:APBB2 | 9.982659e-01 | 1.700300e+00 | 2.968702e-03 | 1.279404e-02 |
| TC | UP | ENST00000513611.5 | APBB2-227:protein_coding:APBB2 | 1.556076e+02 | 8.317784e-01 | 3.710561e-04 | 4.548703e-03 |
| TC | UP | ENST00000502682.1 | APBB2-202:lncRNA:APBB2 | 1.126807e+00 | 9.770183e-01 | 5.298915e-03 | 3.503810e-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 APBB2 |
| 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_103262 | chr4 | 40944865:40945070:41013583:41014398:41033236:41033304 | 41013583:41014398 |
| exon_skip_114819 | chr4 | 41014388:41014398:41065576:41065673:41100639:41100750 | 41065576:41065673 |
| exon_skip_120722 | chr4 | 41065669:41065673:41100639:41100750:41142987:41143142 | 41100639:41100750 |
| exon_skip_126221 | chr4 | 40827132:40827219:40830463:40830577:40890364:40890425 | 40830463:40830577 |
| exon_skip_137020 | chr4 | 40830463:40830577:40842370:40842375:40890364:40890425 | 40842370:40842375 |
| exon_skip_150983 | chr4 | 41100639:41100750:41138042:41138156:41142987:41143142 | 41138042:41138156 |
| exon_skip_164143 | chr4 | 41100639:41100750:41118089:41118205:41142987:41143142 | 41118089:41118205 |
| exon_skip_170495 | chr4 | 41100639:41100750:41142987:41143142:41214405:41214458 | 41142987:41143142 |
| exon_skip_178413 | chr4 | 41014388:41014398:41033236:41033304:41065576:41065673 | 41033236:41033304 |
| exon_skip_21231 | chr4 | 41033290:41033304:41065576:41065673:41100639:41100750 | 41065576:41065673 |
| exon_skip_232273 | chr4 | 40830463:40830577:40842370:40842375:40857026:40857177 | 40842370:40842375 |
| exon_skip_239732 | chr4 | 40944865:40945073:41013583:41014398:41033236:41033304 | 41013583:41014398 |
| exon_skip_266503 | chr4 | 40934614:40934699:40935077:40935139:40944865:40944986 | 40935077:40935139 |
| exon_skip_294355 | chr4 | 40934614:40934699:40935077:40935139:40944865:40945070 | 40935077:40935139 |
| exon_skip_46295 | chr4 | 40893363:40893411:40934456:40934516:40934614:40934699 | 40934456:40934516 |
| exon_skip_81515 | chr4 | 40830463:40830577:40842370:40842375:40856985:40857155 | 40842370:40842375 |
| exon_skip_81700 | chr4 | 41014388:41014398:41033236:41033304:41100639:41100750 | 41033236:41033304 |
| 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 APBB2 |
| 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 |
| ENST00000295974 | 41033236 | 41033304 | 3UTR-3CDS |
| ENST00000295974 | 41065576 | 41065673 | 3UTR-3UTR |
| ENST00000295974 | 41100639 | 41100750 | 3UTR-3UTR |
| ENST00000295974 | 41142987 | 41143142 | 3UTR-3UTR |
| ENST00000295974 | 40830463 | 40830577 | Frame-shift |
| ENST00000295974 | 40934456 | 40934516 | Frame-shift |
| ENST00000295974 | 40935077 | 40935139 | In-frame |
| ENST00000295974 | 41013583 | 41014398 | 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 |
| ENST00000295974 | 41033236 | 41033304 | 3UTR-3CDS |
| ENST00000295974 | 41065576 | 41065673 | 3UTR-3UTR |
| ENST00000295974 | 41142987 | 41143142 | 3UTR-3UTR |
| ENST00000295974 | 40935077 | 40935139 | 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 |
| ENST00000295974 | 41033236 | 41033304 | 3UTR-3CDS |
| ENST00000295974 | 41065576 | 41065673 | 3UTR-3UTR |
| ENST00000295974 | 41100639 | 41100750 | 3UTR-3UTR |
| ENST00000295974 | 41142987 | 41143142 | 3UTR-3UTR |
| ENST00000295974 | 40934456 | 40934516 | Frame-shift |
| ENST00000295974 | 40935077 | 40935139 | In-frame |
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Infer the effects of exon skipping event on protein functional features for APBB2 |
p-ENSG00000163697_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 |
| ENST00000295974 | 8989 | 758 | 41013583 | 41014398 | 650 | 1464 | 6 | 278 |
| ENST00000295974 | 8989 | 758 | 40935077 | 40935139 | 1672 | 1733 | 347 | 367 |
| 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 |
| ENST00000295974 | 8989 | 758 | 40935077 | 40935139 | 1672 | 1733 | 347 | 367 |
| 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 |
| ENST00000295974 | 8989 | 758 | 40935077 | 40935139 | 1672 | 1733 | 347 | 367 |
| 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 |
| Q92870 | 6 | 278 | 1 | 548 | Alternative sequence | ID=VSP_044232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q92870 | 6 | 278 | 278 | 278 | Alternative sequence | ID=VSP_045042;Note=In isoform 4. T->TA;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q92870 | 6 | 278 | 1 | 758 | Chain | ID=PRO_0000076052;Note=Amyloid-beta A4 precursor protein-binding family B member 2 |
| Q92870 | 6 | 278 | 123 | 123 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:24275569;Dbxref=PMID:21406692,PMID:24275569 |
| Q92870 | 6 | 278 | 160 | 160 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q92870 | 6 | 278 | 179 | 179 | Natural variant | ID=VAR_069029;Note=R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|Ref.2;Dbxref=dbSNP:rs4861358,PMID:15489334 |
| Q92870 | 347 | 367 | 1 | 548 | Alternative sequence | ID=VSP_044232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q92870 | 347 | 367 | 348 | 368 | Alternative sequence | ID=VSP_040354;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92870 | 347 | 367 | 1 | 758 | Chain | ID=PRO_0000076052;Note=Amyloid-beta A4 precursor protein-binding family B member 2 |
| 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 |
| Q92870 | 347 | 367 | 1 | 548 | Alternative sequence | ID=VSP_044232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q92870 | 347 | 367 | 348 | 368 | Alternative sequence | ID=VSP_040354;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92870 | 347 | 367 | 1 | 758 | Chain | ID=PRO_0000076052;Note=Amyloid-beta A4 precursor protein-binding family B member 2 |
| 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 |
| Q92870 | 347 | 367 | 1 | 548 | Alternative sequence | ID=VSP_044232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q92870 | 347 | 367 | 348 | 368 | Alternative sequence | ID=VSP_040354;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q92870 | 347 | 367 | 1 | 758 | Chain | ID=PRO_0000076052;Note=Amyloid-beta A4 precursor protein-binding family B member 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in APBB2 |
| 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 | ENST00000295974 | 41100639 | 41100750 | hsa-miR-6741-5p | chr4:41100715-41100722 | 8mer-1a | chr4:41100713-41100737 | 169.00 | -26.24 |
| Mayo | ENST00000295974 | 41100639 | 41100750 | hsa-miR-3620-5p | chr4:41100733-41100740 | 8mer-1a | chr4:41100720-41100740 | 151.00 | -22.59 |
| Mayo | ENST00000295974 | 41065576 | 41065673 | hsa-miR-3124-3p | chr4:41065653-41065660 | 8mer-1a | chr4:41065640-41065662 | 146.00 | -13.75 |
| Mayo | ENST00000295974 | 41142987 | 41143142 | hsa-miR-1287-5p | chr4:41143051-41143058 | 8mer-1a | chr4:41143037-41143058 | 146.00 | -17.77 |
| Mayo | ENST00000295974 | 41142987 | 41143142 | hsa-miR-6748-5p | chr4:41143124-41143131 | 8mer-1a | chr4:41143111-41143132 | 162.00 | -25.05 |
| Mayo | ENST00000295974 | 41142987 | 41143142 | hsa-miR-6753-3p | chr4:41143108-41143115 | 8mer-1a | chr4:41143107-41143125 | 155.00 | -20.20 |
| Mayo | ENST00000295974 | 41100639 | 41100750 | hsa-miR-4303 | chr4:41100662-41100669 | 8mer-1a | chr4:41100658-41100681 | 167.00 | -23.63 |
| Mayo | ENST00000295974 | 41142987 | 41143142 | hsa-miR-7107-3p | chr4:41143108-41143115 | 8mer-1a | chr4:41143107-41143125 | 155.00 | -20.20 |
| Mayo | ENST00000295974 | 41142987 | 41143142 | hsa-miR-485-5p | chr4:41143009-41143016 | 8mer-1a | chr4:41143002-41143022 | 164.00 | -23.77 |
| Mayo | ENST00000295974 | 41142987 | 41143142 | hsa-miR-6884-5p | chr4:41143009-41143016 | 8mer-1a | chr4:41143002-41143022 | 164.00 | -23.77 |
| Mayo | ENST00000295974 | 41065576 | 41065673 | hsa-miR-8059 | chr4:41065638-41065645 | 8mer-1a | chr4:41065636-41065654 | 165.00 | -27.17 |
| Mayo | ENST00000295974 | 41100639 | 41100750 | hsa-miR-3189-3p | chr4:41100718-41100725 | 8mer-1a | chr4:41100713-41100737 | 169.00 | -26.24 |
| Mayo | ENST00000295974 | 41100639 | 41100750 | hsa-miR-6796-5p | chr4:41100687-41100694 | 8mer-1a | chr4:41100669-41100694 | 156.00 | -26.27 |
| Mayo | ENST00000295974 | 41142987 | 41143142 | hsa-miR-558 | chr4:41143118-41143125 | 8mer-1a | chr4:41143111-41143132 | 162.00 | -25.05 |
| Mayo | ENST00000295974 | 41065576 | 41065673 | hsa-miR-4264 | chr4:41065659-41065666 | 8mer-1a | chr4:41065650-41065666 | 142.00 | -12.73 |
| Mayo | ENST00000295974 | 41065576 | 41065673 | hsa-miR-4437 | chr4:41065596-41065603 | 8mer-1a | chr4:41065588-41065606 | 156.00 | -23.20 |
| Mayo | ENST00000295974 | 41065576 | 41065673 | hsa-miR-544b | chr4:41065649-41065656 | 8mer-1a | chr4:41065633-41065656 | 155.00 | -15.33 |
| Mayo | ENST00000295974 | 41142987 | 41143142 | hsa-miR-3137 | chr4:41143105-41143112 | 8mer-1a | chr4:41143088-41143112 | 160.00 | -24.99 |
| Mayo | ENST00000295974 | 41100639 | 41100750 | hsa-miR-6829-5p | chr4:41100732-41100739 | 8mer-1a | chr4:41100720-41100740 | 151.00 | -22.59 |
| Mayo | ENST00000295974 | 41065576 | 41065673 | hsa-miR-943 | chr4:41065609-41065616 | 8mer-1a | chr4:41065596-41065616 | 154.00 | -16.93 |
| Mayo | ENST00000295974 | 41065576 | 41065673 | hsa-miR-1200 | chr4:41065650-41065657 | 8mer-1a | chr4:41065636-41065657 | 151.00 | -15.89 |
| Mayo | ENST00000295974 | 41065576 | 41065673 | hsa-miR-4471 | chr4:41065638-41065645 | 8mer-1a | chr4:41065636-41065654 | 165.00 | -27.17 |
| Mayo | ENST00000295974 | 41065576 | 41065673 | hsa-miR-1208 | chr4:41065591-41065598 | 8mer-1a | chr4:41065588-41065606 | 156.00 | -23.20 |
| Mayo | ENST00000295974 | 41100639 | 41100750 | hsa-miR-491-5p | chr4:41100686-41100693 | 8mer-1a | chr4:41100669-41100694 | 156.00 | -26.27 |
| Mayo | ENST00000295974 | 41100639 | 41100750 | hsa-miR-1587 | chr4:41100733-41100740 | 8mer-1a | chr4:41100720-41100740 | 151.00 | -22.59 |
| MSBB | ENST00000295974 | 41065576 | 41065673 | hsa-miR-3124-3p | chr4:41065653-41065660 | 8mer-1a | chr4:41065640-41065662 | 146.00 | -13.75 |
| MSBB | ENST00000295974 | 41142987 | 41143142 | hsa-miR-1287-5p | chr4:41143051-41143058 | 8mer-1a | chr4:41143037-41143058 | 146.00 | -17.77 |
| MSBB | ENST00000295974 | 41142987 | 41143142 | hsa-miR-6748-5p | chr4:41143124-41143131 | 8mer-1a | chr4:41143111-41143132 | 162.00 | -25.05 |
| MSBB | ENST00000295974 | 41142987 | 41143142 | hsa-miR-6753-3p | chr4:41143108-41143115 | 8mer-1a | chr4:41143107-41143125 | 155.00 | -20.20 |
| MSBB | ENST00000295974 | 41142987 | 41143142 | hsa-miR-7107-3p | chr4:41143108-41143115 | 8mer-1a | chr4:41143107-41143125 | 155.00 | -20.20 |
| MSBB | ENST00000295974 | 41142987 | 41143142 | hsa-miR-485-5p | chr4:41143009-41143016 | 8mer-1a | chr4:41143002-41143022 | 164.00 | -23.77 |
| MSBB | ENST00000295974 | 41142987 | 41143142 | hsa-miR-6884-5p | chr4:41143009-41143016 | 8mer-1a | chr4:41143002-41143022 | 164.00 | -23.77 |
| MSBB | ENST00000295974 | 41065576 | 41065673 | hsa-miR-8059 | chr4:41065638-41065645 | 8mer-1a | chr4:41065636-41065654 | 165.00 | -27.17 |
| MSBB | ENST00000295974 | 41142987 | 41143142 | hsa-miR-558 | chr4:41143118-41143125 | 8mer-1a | chr4:41143111-41143132 | 162.00 | -25.05 |
| MSBB | ENST00000295974 | 41065576 | 41065673 | hsa-miR-4264 | chr4:41065659-41065666 | 8mer-1a | chr4:41065650-41065666 | 142.00 | -12.73 |
| MSBB | ENST00000295974 | 41065576 | 41065673 | hsa-miR-4437 | chr4:41065596-41065603 | 8mer-1a | chr4:41065588-41065606 | 156.00 | -23.20 |
| MSBB | ENST00000295974 | 41065576 | 41065673 | hsa-miR-544b | chr4:41065649-41065656 | 8mer-1a | chr4:41065633-41065656 | 155.00 | -15.33 |
| MSBB | ENST00000295974 | 41142987 | 41143142 | hsa-miR-3137 | chr4:41143105-41143112 | 8mer-1a | chr4:41143088-41143112 | 160.00 | -24.99 |
| MSBB | ENST00000295974 | 41065576 | 41065673 | hsa-miR-943 | chr4:41065609-41065616 | 8mer-1a | chr4:41065596-41065616 | 154.00 | -16.93 |
| MSBB | ENST00000295974 | 41065576 | 41065673 | hsa-miR-1200 | chr4:41065650-41065657 | 8mer-1a | chr4:41065636-41065657 | 151.00 | -15.89 |
| MSBB | ENST00000295974 | 41065576 | 41065673 | hsa-miR-4471 | chr4:41065638-41065645 | 8mer-1a | chr4:41065636-41065654 | 165.00 | -27.17 |
| MSBB | ENST00000295974 | 41065576 | 41065673 | hsa-miR-1208 | chr4:41065591-41065598 | 8mer-1a | chr4:41065588-41065606 | 156.00 | -23.20 |
| ROSMAP | ENST00000295974 | 41100639 | 41100750 | hsa-miR-6741-5p | chr4:41100715-41100722 | 8mer-1a | chr4:41100713-41100737 | 169.00 | -26.24 |
| ROSMAP | ENST00000295974 | 41100639 | 41100750 | hsa-miR-3620-5p | chr4:41100733-41100740 | 8mer-1a | chr4:41100720-41100740 | 151.00 | -22.59 |
| ROSMAP | ENST00000295974 | 41065576 | 41065673 | hsa-miR-3124-3p | chr4:41065653-41065660 | 8mer-1a | chr4:41065640-41065662 | 146.00 | -13.75 |
| ROSMAP | ENST00000295974 | 41142987 | 41143142 | hsa-miR-1287-5p | chr4:41143051-41143058 | 8mer-1a | chr4:41143037-41143058 | 146.00 | -17.77 |
| ROSMAP | ENST00000295974 | 41142987 | 41143142 | hsa-miR-6748-5p | chr4:41143124-41143131 | 8mer-1a | chr4:41143111-41143132 | 162.00 | -25.05 |
| ROSMAP | ENST00000295974 | 41142987 | 41143142 | hsa-miR-6753-3p | chr4:41143108-41143115 | 8mer-1a | chr4:41143107-41143125 | 155.00 | -20.20 |
| ROSMAP | ENST00000295974 | 41100639 | 41100750 | hsa-miR-4303 | chr4:41100662-41100669 | 8mer-1a | chr4:41100658-41100681 | 167.00 | -23.63 |
| ROSMAP | ENST00000295974 | 41142987 | 41143142 | hsa-miR-7107-3p | chr4:41143108-41143115 | 8mer-1a | chr4:41143107-41143125 | 155.00 | -20.20 |
| ROSMAP | ENST00000295974 | 41142987 | 41143142 | hsa-miR-485-5p | chr4:41143009-41143016 | 8mer-1a | chr4:41143002-41143022 | 164.00 | -23.77 |
| ROSMAP | ENST00000295974 | 41142987 | 41143142 | hsa-miR-6884-5p | chr4:41143009-41143016 | 8mer-1a | chr4:41143002-41143022 | 164.00 | -23.77 |
| ROSMAP | ENST00000295974 | 41065576 | 41065673 | hsa-miR-8059 | chr4:41065638-41065645 | 8mer-1a | chr4:41065636-41065654 | 165.00 | -27.17 |
| ROSMAP | ENST00000295974 | 41100639 | 41100750 | hsa-miR-3189-3p | chr4:41100718-41100725 | 8mer-1a | chr4:41100713-41100737 | 169.00 | -26.24 |
| ROSMAP | ENST00000295974 | 41100639 | 41100750 | hsa-miR-6796-5p | chr4:41100687-41100694 | 8mer-1a | chr4:41100669-41100694 | 156.00 | -26.27 |
| ROSMAP | ENST00000295974 | 41142987 | 41143142 | hsa-miR-558 | chr4:41143118-41143125 | 8mer-1a | chr4:41143111-41143132 | 162.00 | -25.05 |
| ROSMAP | ENST00000295974 | 41065576 | 41065673 | hsa-miR-4264 | chr4:41065659-41065666 | 8mer-1a | chr4:41065650-41065666 | 142.00 | -12.73 |
| ROSMAP | ENST00000295974 | 41065576 | 41065673 | hsa-miR-4437 | chr4:41065596-41065603 | 8mer-1a | chr4:41065588-41065606 | 156.00 | -23.20 |
| ROSMAP | ENST00000295974 | 41065576 | 41065673 | hsa-miR-544b | chr4:41065649-41065656 | 8mer-1a | chr4:41065633-41065656 | 155.00 | -15.33 |
| ROSMAP | ENST00000295974 | 41142987 | 41143142 | hsa-miR-3137 | chr4:41143105-41143112 | 8mer-1a | chr4:41143088-41143112 | 160.00 | -24.99 |
| ROSMAP | ENST00000295974 | 41100639 | 41100750 | hsa-miR-6829-5p | chr4:41100732-41100739 | 8mer-1a | chr4:41100720-41100740 | 151.00 | -22.59 |
| ROSMAP | ENST00000295974 | 41065576 | 41065673 | hsa-miR-943 | chr4:41065609-41065616 | 8mer-1a | chr4:41065596-41065616 | 154.00 | -16.93 |
| ROSMAP | ENST00000295974 | 41065576 | 41065673 | hsa-miR-1200 | chr4:41065650-41065657 | 8mer-1a | chr4:41065636-41065657 | 151.00 | -15.89 |
| ROSMAP | ENST00000295974 | 41065576 | 41065673 | hsa-miR-4471 | chr4:41065638-41065645 | 8mer-1a | chr4:41065636-41065654 | 165.00 | -27.17 |
| ROSMAP | ENST00000295974 | 41065576 | 41065673 | hsa-miR-1208 | chr4:41065591-41065598 | 8mer-1a | chr4:41065588-41065606 | 156.00 | -23.20 |
| ROSMAP | ENST00000295974 | 41100639 | 41100750 | hsa-miR-491-5p | chr4:41100686-41100693 | 8mer-1a | chr4:41100669-41100694 | 156.00 | -26.27 |
| ROSMAP | ENST00000295974 | 41100639 | 41100750 | hsa-miR-1587 | chr4:41100733-41100740 | 8mer-1a | chr4:41100720-41100740 | 151.00 | -22.59 |
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SNVs in the skipped exons for APBB2 |
| - 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 APBB2 |
| 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 APBB2 |
| 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 APBB2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF9 | exon_skip_294355 | 4.425507e-01 | 2.371754e-07 |
| CB | EIF4B | exon_skip_294355 | 4.121001e-01 | 1.796351e-06 |
| HCC | SFPQ | exon_skip_294355 | -4.338907e-01 | 1.105203e-13 |
| HCC | RBM5 | exon_skip_294355 | -5.039169e-01 | 1.336639e-18 |
| IFG | NUP42 | exon_skip_137020 | 4.885665e-01 | 8.340362e-03 |
| IFG | RALYL | exon_skip_178413 | -5.352501e-01 | 4.837388e-03 |
| PCC | HNRNPF | exon_skip_137020 | -5.143349e-01 | 9.138514e-15 |
| PCC | SFPQ | exon_skip_294355 | -4.466499e-01 | 1.909659e-11 |
| PCC | PABPC1 | exon_skip_294355 | -5.379050e-01 | 9.025332e-17 |
| PCC | HNRNPF | exon_skip_294355 | -5.834714e-01 | 4.285616e-20 |
| PG | SRSF9 | exon_skip_294355 | 4.495587e-01 | 1.716316e-11 |
| PG | SART3 | exon_skip_294355 | 4.078315e-01 | 1.546252e-09 |
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RelatedDrugs for APBB2 |
| 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 APBB2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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