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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 FKBP1A |
 Gene summary |
| Gene information | Gene symbol | FKBP1A | Gene ID | 2280 |
| Gene name | FKBP prolyl isomerase 1A | |
| Synonyms | FKBP-12|FKBP-1A|FKBP1|FKBP12|PKC12|PKCI2|PPIASE | |
| Cytomap | 20p13 | |
| Type of gene | protein-coding | |
| Description | peptidyl-prolyl cis-trans isomerase FKBP1A12 kDa FK506-binding protein12 kDa FKBPFK506 binding protein 1A, 12kDaFK506 binding protein12FK506-binding protein 1FK506-binding protein 12FK506-binding protein 1AFK506-binding protein, T-cell, 12-kDFKBP | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 24291098(FK506-binding Protein 1b/12.6: A Key to Aging-Related Hippocampal Ca2+ Dysregulation?) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| FKBP1A | GO:0000413 | protein peptidyl-prolyl isomerization | 1696686 |
| FKBP1A | GO:0007183 | SMAD protein complex assembly | 16720724 |
| FKBP1A | GO:0031398 | positive regulation of protein ubiquitination | 16720724 |
| FKBP1A | GO:0032092 | positive regulation of protein binding | 18346205 |
| FKBP1A | GO:0032515 | negative regulation of phosphoprotein phosphatase activity | 7592869 |
| FKBP1A | GO:0032925 | regulation of activin receptor signaling pathway | 16720724 |
| FKBP1A | GO:0051280 | negative regulation of release of sequestered calcium ion into cytosol | 12443530 |
| FKBP1A | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | 7592869 |
| FKBP1A | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 12443530 |
| FKBP1A | GO:0097435 | supramolecular fiber organization | 18346205 |
| FKBP1A | GO:1990000 | amyloid fibril formation | 18346205 |
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Gene structures and expression levels for FKBP1A |
| 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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ENSG00000088832
| 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 FKBP1A |
| 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_120666 | chr20 | 1372076:1372240:1375491:1375603:1392834:1392881 | 1375491:1375603 |
| exon_skip_30191 | chr20 | 1375491:1375603:1392834:1392881:1392962:1393172 | 1392834:1392881 |
| exon_skip_40930 | chr20 | 1375491:1375603:1377430:1377511:1392834:1392881 | 1377430:1377511 |
| 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 FKBP1A |
| 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 |
| ENST00000381719 | 1375491 | 1375603 | Frame-shift |
| ENST00000400137 | 1375491 | 1375603 | Frame-shift |
| ENST00000381719 | 1392834 | 1392881 | In-frame |
| ENST00000400137 | 1392834 | 1392881 | 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 |
| ENST00000381719 | 1375491 | 1375603 | Frame-shift |
| ENST00000400137 | 1375491 | 1375603 | Frame-shift |
| ENST00000381719 | 1392834 | 1392881 | In-frame |
| ENST00000400137 | 1392834 | 1392881 | 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 |
| ENST00000381719 | 1375491 | 1375603 | Frame-shift |
| ENST00000400137 | 1375491 | 1375603 | Frame-shift |
| ENST00000381719 | 1392834 | 1392881 | In-frame |
| ENST00000400137 | 1392834 | 1392881 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FKBP1A |
p-ENSG00000088832_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 |
| ENST00000381719 | 764 | 108 | 1392834 | 1392881 | 68 | 114 | 12 | 28 |
| ENST00000400137 | 1639 | 108 | 1392834 | 1392881 | 202 | 248 | 12 | 28 |
| 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 |
| ENST00000381719 | 764 | 108 | 1392834 | 1392881 | 68 | 114 | 12 | 28 |
| ENST00000400137 | 1639 | 108 | 1392834 | 1392881 | 202 | 248 | 12 | 28 |
| 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 |
| ENST00000381719 | 764 | 108 | 1392834 | 1392881 | 68 | 114 | 12 | 28 |
| ENST00000400137 | 1639 | 108 | 1392834 | 1392881 | 202 | 248 | 12 | 28 |
| 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 |
| P62942 | 12 | 28 | 22 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2PPN |
| P62942 | 12 | 28 | 22 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2PPN |
| P62942 | 12 | 28 | 2 | 108 | Chain | ID=PRO_0000075289;Note=Peptidyl-prolyl cis-trans isomerase FKBP1A |
| P62942 | 12 | 28 | 2 | 108 | Chain | ID=PRO_0000075289;Note=Peptidyl-prolyl cis-trans isomerase FKBP1A |
| P62942 | 12 | 28 | 20 | 108 | Domain | Note=PPIase FKBP-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00277 |
| P62942 | 12 | 28 | 20 | 108 | Domain | Note=PPIase FKBP-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00277 |
| 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 |
| P62942 | 12 | 28 | 22 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2PPN |
| P62942 | 12 | 28 | 22 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2PPN |
| P62942 | 12 | 28 | 2 | 108 | Chain | ID=PRO_0000075289;Note=Peptidyl-prolyl cis-trans isomerase FKBP1A |
| P62942 | 12 | 28 | 2 | 108 | Chain | ID=PRO_0000075289;Note=Peptidyl-prolyl cis-trans isomerase FKBP1A |
| P62942 | 12 | 28 | 20 | 108 | Domain | Note=PPIase FKBP-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00277 |
| P62942 | 12 | 28 | 20 | 108 | Domain | Note=PPIase FKBP-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00277 |
| 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 |
| P62942 | 12 | 28 | 22 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2PPN |
| P62942 | 12 | 28 | 22 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2PPN |
| P62942 | 12 | 28 | 2 | 108 | Chain | ID=PRO_0000075289;Note=Peptidyl-prolyl cis-trans isomerase FKBP1A |
| P62942 | 12 | 28 | 2 | 108 | Chain | ID=PRO_0000075289;Note=Peptidyl-prolyl cis-trans isomerase FKBP1A |
| P62942 | 12 | 28 | 20 | 108 | Domain | Note=PPIase FKBP-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00277 |
| P62942 | 12 | 28 | 20 | 108 | Domain | Note=PPIase FKBP-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00277 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FKBP1A |
| 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 FKBP1A |
| - 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 FKBP1A |
| 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 FKBP1A |
| 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 FKBP1A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FKBP1A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P62942 | approved|investigational | DB00337 | Pimecrolimus | small molecule | P62942 |
| P62942 | approved|investigational | DB00864 | Tacrolimus | small molecule | P62942 |
| P62942 | approved|investigational | DB00877 | Sirolimus | small molecule | P62942 |
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RelatedDiseases for FKBP1A |
| 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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