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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 APBB1 |
 Gene summary |
| Gene information | Gene symbol | APBB1 | Gene ID | 322 |
| Gene name | amyloid beta precursor protein binding family B member 1 | |
| Synonyms | FE65|MGC:9072|RIR | |
| Cytomap | 11p15.4 | |
| Type of gene | protein-coding | |
| Description | amyloid-beta A4 precursor protein-binding family B member 1adaptor protein FE65a2amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)stat-like protein | |
| Modification date | 20200313 | |
| UniProtAcc | A0A075B7G8, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| APBB1 | GO:0006974 | cellular response to DNA damage stimulus | 18468999 |
| APBB1 | GO:0043065 | positive regulation of apoptotic process | 18468999 |
| APBB1 | GO:0045893 | positive regulation of transcription, DNA-templated | 19343227 |
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Gene structures and expression levels for APBB1 |
| 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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ENSG00000166313
| 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 |
| PCC | UP | ENST00000526240.5 | APBB1-205:lncRNA:APBB1 | 3.350280e+01 | 8.255181e-01 | 6.684080e-06 | 9.595840e-04 |
| CB | DOWN | ENST00000526240.5 | APBB1-205:lncRNA:APBB1 | 1.242167e+03 | -1.077486e+00 | 5.731167e-14 | 1.487106e-11 |
| CB | DOWN | ENST00000618005.4 | APBB1-223:protein_coding:APBB1 | 8.253488e+00 | -4.143284e+00 | 7.040451e-04 | 3.846542e-03 |
| CB | UP | ENST00000526925.6 | APBB1-206:retained_intron:APBB1 | 6.812285e+01 | 8.534669e-01 | 1.529027e-03 | 7.374922e-03 |
| CB | UP | ENST00000608435.5 | APBB1-216:non_stop_decay:APBB1 | 6.739878e+01 | 9.998215e-01 | 1.580863e-03 | 7.578300e-03 |
| TC | DOWN | ENST00000526240.5 | APBB1-205:lncRNA:APBB1 | 5.450931e+02 | -1.307459e+00 | 1.616904e-16 | 1.900981e-13 |
| 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 APBB1 |
| 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_10444 | chr11 | 6403647:6403822:6410627:6411361:6418985:6419070 | 6410627:6411361 |
| exon_skip_125261 | chr11 | 6401587:6401688:6401977:6401982:6402082:6402209 | 6401977:6401982 |
| exon_skip_130919 | chr11 | 6402082:6402209:6402576:6402725:6403145:6403207 | 6402576:6402725 |
| exon_skip_141899 | chr11 | 6396100:6396215:6400989:6401072:6401345:6401429 | 6400989:6401072 |
| exon_skip_150561 | chr11 | 6402576:6402725:6403145:6403208:6403319:6403404 | 6403145:6403208 |
| exon_skip_158580 | chr11 | 6403647:6403822:6403938:6404058:6404745:6404784 | 6403938:6404058 |
| exon_skip_180637 | chr11 | 6401634:6401688:6401977:6401982:6402082:6402205 | 6401977:6401982 |
| exon_skip_187555 | chr11 | 6403647:6403822:6404745:6404784:6405133:6405417 | 6404745:6404784 |
| exon_skip_199399 | chr11 | 6401365:6401429:6401574:6401688:6401977:6401982 | 6401574:6401688 |
| exon_skip_211362 | chr11 | 6403647:6403822:6404745:6404784:6405133:6405415 | 6404745:6404784 |
| exon_skip_228454 | chr11 | 6403647:6403822:6403938:6404058:6404745:6404757 | 6403938:6404058 |
| exon_skip_230255 | chr11 | 6403319:6403404:6403488:6403544:6403647:6403822 | 6403488:6403544 |
| exon_skip_237292 | chr11 | 6401574:6401688:6401977:6401982:6402082:6402209 | 6401977:6401982 |
| exon_skip_25310 | chr11 | 6395838:6395962:6396100:6396215:6400989:6401072 | 6396100:6396215 |
| exon_skip_273171 | chr11 | 6401587:6401688:6401977:6401982:6402082:6402172 | 6401977:6401982 |
| exon_skip_286619 | chr11 | 6403488:6403544:6403647:6403822:6405387:6405441 | 6403647:6403822 |
| exon_skip_293607 | chr11 | 6395786:6395962:6396100:6396215:6400989:6401072 | 6396100:6396215 |
| exon_skip_53204 | chr11 | 6401622:6401688:6401977:6401982:6402082:6402209 | 6401977:6401982 |
| exon_skip_58102 | chr11 | 6403488:6403544:6403647:6403822:6410627:6411277 | 6403647:6403822 |
| exon_skip_63955 | chr11 | 6402082:6402209:6402576:6402725:6403145:6403208 | 6402576:6402725 |
| exon_skip_87941 | chr11 | 6403647:6403822:6410627:6411361:6419346:6419414 | 6410627:6411361 |
| exon_skip_8992 | chr11 | 6401587:6401688:6401977:6401982:6402082:6402182 | 6401977:6401982 |
| 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_125261 | MSBB_PG | 5.488489e-01 | 7.222807e-01 | -1.734318e-01 | 6.895050e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for APBB1 |
| 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 |
| ENST00000609360 | 6410627 | 6411361 | 3UTR-3CDS |
| ENST00000609360 | 6396100 | 6396215 | Frame-shift |
| ENST00000609360 | 6400989 | 6401072 | In-frame |
| ENST00000609360 | 6401977 | 6401982 | In-frame |
| ENST00000609360 | 6402576 | 6402725 | In-frame |
| ENST00000609360 | 6403488 | 6403544 | 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 |
| ENST00000609360 | 6410627 | 6411361 | 3UTR-3CDS |
| ENST00000609360 | 6401977 | 6401982 | 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 |
| ENST00000609360 | 6410627 | 6411361 | 3UTR-3CDS |
| ENST00000609360 | 6396100 | 6396215 | Frame-shift |
| ENST00000609360 | 6401574 | 6401688 | Frame-shift |
| ENST00000609360 | 6403145 | 6403208 | Frame-shift |
| ENST00000609360 | 6403647 | 6403822 | Frame-shift |
| ENST00000609360 | 6400989 | 6401072 | In-frame |
| ENST00000609360 | 6401977 | 6401982 | In-frame |
| ENST00000609360 | 6402576 | 6402725 | In-frame |
| ENST00000609360 | 6403488 | 6403544 | In-frame |
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Infer the effects of exon skipping event on protein functional features for APBB1 |
p-ENSG00000166313_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 |
| ENST00000609360 | 2659 | 710 | 6403488 | 6403544 | 998 | 1053 | 299 | 317 |
| ENST00000609360 | 2659 | 710 | 6402576 | 6402725 | 1205 | 1353 | 368 | 417 |
| ENST00000609360 | 2659 | 710 | 6400989 | 6401072 | 1689 | 1771 | 529 | 557 |
| 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 |
| 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 |
| ENST00000609360 | 2659 | 710 | 6403488 | 6403544 | 998 | 1053 | 299 | 317 |
| ENST00000609360 | 2659 | 710 | 6402576 | 6402725 | 1205 | 1353 | 368 | 417 |
| ENST00000609360 | 2659 | 710 | 6400989 | 6401072 | 1689 | 1771 | 529 | 557 |
| 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 |
| O00213 | 299 | 317 | 1 | 710 | Chain | ID=PRO_0000076049;Note=Amyloid-beta A4 precursor protein-binding family B member 1 |
| O00213 | 368 | 417 | 368 | 379 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D8D |
| O00213 | 368 | 417 | 1 | 710 | Chain | ID=PRO_0000076049;Note=Amyloid-beta A4 precursor protein-binding family B member 1 |
| O00213 | 368 | 417 | 370 | 509 | Domain | Note=PID 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| O00213 | 368 | 417 | 382 | 385 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D8D |
| O00213 | 368 | 417 | 390 | 401 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D8D |
| O00213 | 368 | 417 | 403 | 403 | Mutagenesis | Note=No effect on phosphorylation by ABL1. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15031292;Dbxref=PMID:15031292 |
| O00213 | 368 | 417 | 396 | 396 | Natural variant | ID=VAR_014445;Note=N->S;Dbxref=dbSNP:rs1800425 |
| O00213 | 368 | 417 | 387 | 389 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D8D |
| O00213 | 529 | 557 | 544 | 554 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DXE |
| O00213 | 529 | 557 | 1 | 710 | Chain | ID=PRO_0000076049;Note=Amyloid-beta A4 precursor protein-binding family B member 1 |
| O00213 | 529 | 557 | 542 | 699 | Domain | Note=PID 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| O00213 | 529 | 557 | 547 | 547 | Modified residue | Note=Phosphotyrosine%3B by ABL1;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15031292,ECO:0000269|PubMed:18922798;Dbxref=PMID:15031292,PMID:18922798 |
| O00213 | 529 | 557 | 546 | 546 | Mutagenesis | Note=No effect on phosphorylation by ABL1. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15031292;Dbxref=PMID:15031292 |
| O00213 | 529 | 557 | 547 | 547 | Mutagenesis | Note=Abrogates phosphorylation and stimulation of transcription by ABL1%2C and increases the interaction with RASD1/DEXRAS1. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15031292,ECO:0000269|PubMed:18922798;Dbxref=PMID:15031292,P |
| 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 |
| 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 |
| O00213 | 299 | 317 | 1 | 710 | Chain | ID=PRO_0000076049;Note=Amyloid-beta A4 precursor protein-binding family B member 1 |
| O00213 | 368 | 417 | 368 | 379 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D8D |
| O00213 | 368 | 417 | 1 | 710 | Chain | ID=PRO_0000076049;Note=Amyloid-beta A4 precursor protein-binding family B member 1 |
| O00213 | 368 | 417 | 370 | 509 | Domain | Note=PID 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| O00213 | 368 | 417 | 382 | 385 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D8D |
| O00213 | 368 | 417 | 390 | 401 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D8D |
| O00213 | 368 | 417 | 403 | 403 | Mutagenesis | Note=No effect on phosphorylation by ABL1. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15031292;Dbxref=PMID:15031292 |
| O00213 | 368 | 417 | 396 | 396 | Natural variant | ID=VAR_014445;Note=N->S;Dbxref=dbSNP:rs1800425 |
| O00213 | 368 | 417 | 387 | 389 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3D8D |
| O00213 | 529 | 557 | 544 | 554 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3DXE |
| O00213 | 529 | 557 | 1 | 710 | Chain | ID=PRO_0000076049;Note=Amyloid-beta A4 precursor protein-binding family B member 1 |
| O00213 | 529 | 557 | 542 | 699 | Domain | Note=PID 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00148 |
| O00213 | 529 | 557 | 547 | 547 | Modified residue | Note=Phosphotyrosine%3B by ABL1;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15031292,ECO:0000269|PubMed:18922798;Dbxref=PMID:15031292,PMID:18922798 |
| O00213 | 529 | 557 | 546 | 546 | Mutagenesis | Note=No effect on phosphorylation by ABL1. Y->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15031292;Dbxref=PMID:15031292 |
| O00213 | 529 | 557 | 547 | 547 | Mutagenesis | Note=Abrogates phosphorylation and stimulation of transcription by ABL1%2C and increases the interaction with RASD1/DEXRAS1. Y->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15031292,ECO:0000269|PubMed:18922798;Dbxref=PMID:15031292,P |
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3'-UTR located exon skipping events that lost miRNA binding sites in APBB1 |
| 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 APBB1 |
| - 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 APBB1 |
| 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 APBB1 |
| 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 APBB1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF11 | exon_skip_180637 | 5.039333e-01 | 1.275198e-11 |
| CB | EWSR1 | exon_skip_180637 | 4.379150e-01 | 7.808725e-09 |
| CB | SRSF1 | exon_skip_180637 | 4.184796e-01 | 4.036911e-08 |
| DLPFC | SRSF11 | exon_skip_273171 | -5.035805e-01 | 4.290009e-17 |
| DLPFC | ILF2 | exon_skip_273171 | 6.529357e-01 | 4.908161e-31 |
| DLPFC | EWSR1 | exon_skip_273171 | 6.345252e-01 | 6.771202e-29 |
| DLPFC | SRSF1 | exon_skip_273171 | 5.899585e-01 | 2.853249e-24 |
| FL | ILF2 | exon_skip_125261 | 5.162314e-01 | 7.015862e-15 |
| FL | SRSF1 | exon_skip_125261 | 4.094821e-01 | 2.096133e-09 |
| HCC | SRSF11 | exon_skip_8992 | -5.559504e-01 | 1.509807e-23 |
| HCC | EWSR1 | exon_skip_8992 | -4.194059e-01 | 4.682158e-13 |
| HCC | SRSF1 | exon_skip_8992 | -4.314977e-01 | 8.302917e-14 |
| HCC | HNRNPF | exon_skip_8992 | -6.305391e-01 | 1.146496e-31 |
| PCC | HNRNPF | exon_skip_125261 | -5.725657e-01 | 3.997532e-20 |
| PG | SRSF11 | exon_skip_125261 | 4.585342e-01 | 1.394593e-11 |
| PG | ILF2 | exon_skip_125261 | 5.595217e-01 | 1.533825e-17 |
| PG | EWSR1 | exon_skip_125261 | 4.037885e-01 | 4.392436e-09 |
| PG | SRSF1 | exon_skip_125261 | 4.376805e-01 | 1.409412e-10 |
| STG | ILF2 | exon_skip_125261 | 4.357091e-01 | 1.418370e-05 |
| TC | ILF2 | exon_skip_53204 | 4.552879e-01 | 1.458710e-09 |
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RelatedDrugs for APBB1 |
| 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 APBB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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