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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 AP1B1 |
 Gene summary |
| Gene information | Gene symbol | AP1B1 | Gene ID | 162 |
| Gene name | adaptor related protein complex 1 subunit beta 1 | |
| Synonyms | ADTB1|AP105A|BAM22|CLAPB2|KIDAR | |
| Cytomap | 22q12.2 | |
| Type of gene | protein-coding | |
| Description | AP-1 complex subunit beta-1ADTB1, CLAPB2Golgi adaptor HA1/AP1 adaptin beta subunitadapter-related protein complex 1 subunit beta-1adaptor protein complex AP-1 subunit beta-1adaptor related protein complex 1 beta 1 subunitbeta-1-adaptinbeta-adaptin | |
| 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 AP1B1 |
| 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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ENSG00000100280
| 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 |
| 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 AP1B1 |
| 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_184953 | chr22 | 29338990:29339133:29339754:29339774:29340656:29340837 | 29339754:29339774 |
| exon_skip_192172 | chr22 | 29328873:29328895:29329712:29329720:29330378:29330532 | 29329712:29329720 |
| exon_skip_211082 | chr22 | 29363001:29363106:29367207:29367267:29388424:29388529 | 29367207:29367267 |
| exon_skip_216456 | chr22 | 29350035:29350150:29351171:29351419:29351705:29351747 | 29351171:29351419 |
| exon_skip_235245 | chr22 | 29363001:29363106:29367207:29367270:29388424:29388529 | 29367207:29367270 |
| exon_skip_25319 | chr22 | 29328821:29328895:29329712:29329720:29330378:29330532 | 29329712:29329720 |
| exon_skip_43507 | chr22 | 29351171:29351266:29351705:29351825:29354650:29354871 | 29351705:29351825 |
| exon_skip_51841 | chr22 | 29330378:29330532:29330623:29330709:29331449:29331533 | 29330623:29330709 |
| exon_skip_56071 | chr22 | 29354650:29354871:29356426:29356616:29358726:29358971 | 29356426:29356616 |
| exon_skip_66460 | chr22 | 29350035:29350150:29351171:29351266:29351705:29351747 | 29351171:29351266 |
| exon_skip_78114 | chr22 | 29359824:29359959:29363001:29363106:29367207:29367267 | 29363001:29363106 |
| 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_184953 | MSBB_PG | 6.294958e-01 | 7.711321e-01 | -1.416363e-01 | 2.540360e-02 |
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Open reading frame (ORF) annotation in the exon skipping event for AP1B1 |
| 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 |
| ENST00000317368 | 29367207 | 29367270 | 3UTR-3CDS |
| ENST00000357586 | 29367207 | 29367270 | 3UTR-3CDS |
| ENST00000432560 | 29367207 | 29367270 | 3UTR-3CDS |
| ENST00000317368 | 29356426 | 29356616 | Frame-shift |
| ENST00000357586 | 29356426 | 29356616 | Frame-shift |
| ENST00000402502 | 29356426 | 29356616 | Frame-shift |
| ENST00000405198 | 29356426 | 29356616 | Frame-shift |
| ENST00000415447 | 29356426 | 29356616 | Frame-shift |
| ENST00000432560 | 29356426 | 29356616 | Frame-shift |
| ENST00000317368 | 29363001 | 29363106 | Frame-shift |
| ENST00000357586 | 29363001 | 29363106 | Frame-shift |
| ENST00000402502 | 29363001 | 29363106 | Frame-shift |
| ENST00000405198 | 29363001 | 29363106 | Frame-shift |
| ENST00000432560 | 29363001 | 29363106 | Frame-shift |
| ENST00000357586 | 29329712 | 29329720 | In-frame |
| ENST00000405198 | 29329712 | 29329720 | In-frame |
| ENST00000317368 | 29330623 | 29330709 | In-frame |
| ENST00000357586 | 29330623 | 29330709 | In-frame |
| ENST00000402502 | 29330623 | 29330709 | In-frame |
| ENST00000405198 | 29330623 | 29330709 | In-frame |
| ENST00000415447 | 29330623 | 29330709 | In-frame |
| ENST00000432560 | 29330623 | 29330709 | In-frame |
| ENST00000357586 | 29339754 | 29339774 | In-frame |
| ENST00000405198 | 29339754 | 29339774 | In-frame |
| ENST00000317368 | 29351171 | 29351266 | In-frame |
| ENST00000357586 | 29351171 | 29351266 | In-frame |
| ENST00000402502 | 29351171 | 29351266 | In-frame |
| ENST00000405198 | 29351171 | 29351266 | In-frame |
| ENST00000415447 | 29351171 | 29351266 | In-frame |
| ENST00000432560 | 29351171 | 29351266 | 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 |
| ENST00000317368 | 29356426 | 29356616 | Frame-shift |
| ENST00000357586 | 29356426 | 29356616 | Frame-shift |
| ENST00000402502 | 29356426 | 29356616 | Frame-shift |
| ENST00000405198 | 29356426 | 29356616 | Frame-shift |
| ENST00000415447 | 29356426 | 29356616 | Frame-shift |
| ENST00000432560 | 29356426 | 29356616 | Frame-shift |
| ENST00000317368 | 29363001 | 29363106 | Frame-shift |
| ENST00000357586 | 29363001 | 29363106 | Frame-shift |
| ENST00000402502 | 29363001 | 29363106 | Frame-shift |
| ENST00000405198 | 29363001 | 29363106 | Frame-shift |
| ENST00000432560 | 29363001 | 29363106 | Frame-shift |
| ENST00000357586 | 29329712 | 29329720 | In-frame |
| ENST00000405198 | 29329712 | 29329720 | In-frame |
| ENST00000357586 | 29339754 | 29339774 | In-frame |
| ENST00000405198 | 29339754 | 29339774 | 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 |
| ENST00000317368 | 29367207 | 29367270 | 3UTR-3CDS |
| ENST00000357586 | 29367207 | 29367270 | 3UTR-3CDS |
| ENST00000432560 | 29367207 | 29367270 | 3UTR-3CDS |
| ENST00000317368 | 29351705 | 29351825 | Frame-shift |
| ENST00000357586 | 29351705 | 29351825 | Frame-shift |
| ENST00000402502 | 29351705 | 29351825 | Frame-shift |
| ENST00000405198 | 29351705 | 29351825 | Frame-shift |
| ENST00000415447 | 29351705 | 29351825 | Frame-shift |
| ENST00000432560 | 29351705 | 29351825 | Frame-shift |
| ENST00000317368 | 29356426 | 29356616 | Frame-shift |
| ENST00000357586 | 29356426 | 29356616 | Frame-shift |
| ENST00000402502 | 29356426 | 29356616 | Frame-shift |
| ENST00000405198 | 29356426 | 29356616 | Frame-shift |
| ENST00000415447 | 29356426 | 29356616 | Frame-shift |
| ENST00000432560 | 29356426 | 29356616 | Frame-shift |
| ENST00000317368 | 29363001 | 29363106 | Frame-shift |
| ENST00000357586 | 29363001 | 29363106 | Frame-shift |
| ENST00000402502 | 29363001 | 29363106 | Frame-shift |
| ENST00000405198 | 29363001 | 29363106 | Frame-shift |
| ENST00000432560 | 29363001 | 29363106 | Frame-shift |
| ENST00000357586 | 29329712 | 29329720 | In-frame |
| ENST00000405198 | 29329712 | 29329720 | In-frame |
| ENST00000357586 | 29339754 | 29339774 | In-frame |
| ENST00000405198 | 29339754 | 29339774 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AP1B1 |
p-ENSG00000100280_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 |
| ENST00000357586 | 4193 | 949 | 29351171 | 29351266 | 1247 | 1341 | 353 | 384 |
| ENST00000405198 | 3855 | 949 | 29351171 | 29351266 | 1092 | 1186 | 353 | 384 |
| ENST00000357586 | 4193 | 949 | 29330623 | 29330709 | 2712 | 2797 | 841 | 870 |
| ENST00000405198 | 3855 | 949 | 29330623 | 29330709 | 2557 | 2642 | 841 | 870 |
| 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 |
| 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 |
| Q10567 | 353 | 384 | 1 | 949 | Chain | ID=PRO_0000193738;Note=AP-1 complex subunit beta-1 |
| Q10567 | 353 | 384 | 1 | 949 | Chain | ID=PRO_0000193738;Note=AP-1 complex subunit beta-1 |
| Q10567 | 353 | 384 | 351 | 361 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Z |
| Q10567 | 353 | 384 | 351 | 361 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Z |
| Q10567 | 353 | 384 | 367 | 383 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Z |
| Q10567 | 353 | 384 | 367 | 383 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4P6Z |
| Q10567 | 841 | 870 | 1 | 949 | Chain | ID=PRO_0000193738;Note=AP-1 complex subunit beta-1 |
| Q10567 | 841 | 870 | 1 | 949 | Chain | ID=PRO_0000193738;Note=AP-1 complex subunit beta-1 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AP1B1 |
| 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 AP1B1 |
| - 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 AP1B1 |
| 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 AP1B1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_78114 | rs715494 | chr22:29386444 | 2.202131e-05 | 2.509464e-03 |
| HCC | exon_skip_25319 | rs715494 | chr22:29386444 | 8.835881e-05 | 8.215866e-03 |
| HCC | exon_skip_25319 | rs2072051 | chr22:29359899 | 1.066737e-04 | 9.643920e-03 |
| HCC | exon_skip_78114 | rs2072051 | chr22:29359899 | 1.068592e-04 | 9.655997e-03 |
| HCC | exon_skip_78114 | rs5752905 | chr22:29381302 | 1.070411e-04 | 9.665384e-03 |
| HCC | exon_skip_78114 | rs5763182 | chr22:29381592 | 1.290557e-04 | 1.134825e-02 |
| HCC | exon_skip_78114 | rs5752903 | chr22:29373317 | 2.135426e-04 | 1.707969e-02 |
| HCC | exon_skip_25319 | rs5752903 | chr22:29373317 | 4.035341e-04 | 2.859724e-02 |
| HCC | exon_skip_78114 | rs714962 | chr22:29397846 | 4.171064e-04 | 2.937995e-02 |
| HCC | exon_skip_25319 | rs4820803 | chr22:29273659 | 4.911823e-04 | 3.343231e-02 |
| HCC | exon_skip_25319 | rs459310 | chr22:29423092 | 5.861625e-04 | 3.841319e-02 |
| HCC | exon_skip_25319 | rs2267145 | chr22:29409418 | 8.176348e-04 | 4.982440e-02 |
| DLPFC | exon_skip_192172 | rs715494 | chr22:29386444 | 2.682428e-04 | 1.965267e-02 |
| DLPFC | exon_skip_192172 | rs2072051 | chr22:29359899 | 3.169108e-04 | 2.253629e-02 |
| DLPFC | exon_skip_192172 | rs5752903 | chr22:29373317 | 7.538510e-04 | 4.463861e-02 |
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Correlation with RNA binding proteins (RBPs) for AP1B1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_56071 | -4.680482e-01 | 4.941370e-10 |
| CB | RBM3 | exon_skip_78114 | 4.179455e-01 | 4.217201e-08 |
| CB | TRA2A | exon_skip_78114 | -5.143610e-01 | 4.058479e-12 |
| HCC | RBM5 | exon_skip_184953 | -4.501476e-01 | 5.015959e-15 |
| IFG | EIF4B | exon_skip_25319 | 4.310400e-01 | 2.202095e-02 |
| IFG | RBM3 | exon_skip_78114 | 4.011531e-01 | 3.809461e-02 |
| PG | ILF2 | exon_skip_184953 | 4.806678e-01 | 2.500003e-11 |
| PG | HNRNPH2 | exon_skip_184953 | 5.829955e-01 | 4.823649e-17 |
| TC | ILF2 | exon_skip_184953 | 4.526855e-01 | 1.855396e-09 |
| TC | HNRNPH2 | exon_skip_184953 | 5.636799e-01 | 8.463257e-15 |
| TC | ESRP1 | exon_skip_184953 | 5.235445e-01 | 1.217237e-12 |
| TC | RBM3 | exon_skip_78114 | 4.812360e-01 | 1.548719e-10 |
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RelatedDrugs for AP1B1 |
| 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 AP1B1 |
| 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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