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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 PDZD11 |
 Gene summary |
| Gene information | Gene symbol | PDZD11 | Gene ID | 51248 |
| Gene name | PDZ domain containing 11 | |
| Synonyms | AIPP1|PDZK11|PISP | |
| Cytomap | Xq13.1 | |
| Type of gene | protein-coding | |
| Description | PDZ domain-containing protein 11ATPase-interacting PDZ proteinPMCA-interacting single-PDZ proteinplasma membrane calcium ATPase-interacting single-PDZ protein | |
| Modification date | 20200313 | |
| UniProtAcc | Q5EBL8, | |
| 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 PDZD11 |
| 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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ENSG00000120509
| 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 PDZD11 |
| 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_11840 | chrX | 70289255:70289354:70289522:70289593:70289860:70289913 | 70289522:70289593 |
| exon_skip_223629 | chrX | 70287767:70287830:70288117:70288173:70288430:70288513 | 70288117:70288173 |
| exon_skip_4331 | chrX | 70288117:70288173:70288430:70288513:70289255:70289354 | 70288430:70288513 |
| 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 PDZD11 |
| 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 |
| ENST00000374454 | 70289522 | 70289593 | 3UTR-3UTR |
| ENST00000239666 | 70288117 | 70288173 | In-frame |
| ENST00000374454 | 70288117 | 70288173 | 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 |
| ENST00000374454 | 70289522 | 70289593 | 3UTR-3UTR |
| 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 |
| ENST00000374454 | 70289522 | 70289593 | 3UTR-3UTR |
| ENST00000239666 | 70288117 | 70288173 | In-frame |
| ENST00000374454 | 70288117 | 70288173 | In-frame |
| ENST00000239666 | 70288430 | 70288513 | In-frame |
| ENST00000374454 | 70288430 | 70288513 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PDZD11 |
p-ENSG00000120509_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 |
| ENST00000239666 | 1060 | 140 | 70288117 | 70288173 | 305 | 360 | 57 | 75 |
| ENST00000374454 | 801 | 140 | 70288117 | 70288173 | 343 | 398 | 57 | 75 |
| 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 |
| ENST00000239666 | 1060 | 140 | 70288430 | 70288513 | 221 | 303 | 29 | 56 |
| ENST00000374454 | 801 | 140 | 70288430 | 70288513 | 259 | 341 | 29 | 56 |
| ENST00000239666 | 1060 | 140 | 70288117 | 70288173 | 305 | 360 | 57 | 75 |
| ENST00000374454 | 801 | 140 | 70288117 | 70288173 | 343 | 398 | 57 | 75 |
| 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 |
| Q5EBL8 | 57 | 75 | 1 | 140 | Chain | ID=PRO_0000058273;Note=PDZ domain-containing protein 11 |
| Q5EBL8 | 57 | 75 | 1 | 140 | Chain | ID=PRO_0000058273;Note=PDZ domain-containing protein 11 |
| Q5EBL8 | 57 | 75 | 47 | 129 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q5EBL8 | 57 | 75 | 47 | 129 | Domain | Note=PDZ;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 |
| 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 |
| Q5EBL8 | 29 | 56 | 1 | 140 | Chain | ID=PRO_0000058273;Note=PDZ domain-containing protein 11 |
| Q5EBL8 | 29 | 56 | 1 | 140 | Chain | ID=PRO_0000058273;Note=PDZ domain-containing protein 11 |
| Q5EBL8 | 29 | 56 | 47 | 129 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q5EBL8 | 29 | 56 | 47 | 129 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q5EBL8 | 57 | 75 | 1 | 140 | Chain | ID=PRO_0000058273;Note=PDZ domain-containing protein 11 |
| Q5EBL8 | 57 | 75 | 1 | 140 | Chain | ID=PRO_0000058273;Note=PDZ domain-containing protein 11 |
| Q5EBL8 | 57 | 75 | 47 | 129 | Domain | Note=PDZ;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00143 |
| Q5EBL8 | 57 | 75 | 47 | 129 | Domain | Note=PDZ;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 PDZD11 |
| 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 | ENST00000374454 | 70289522 | 70289593 | hsa-miR-519c-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-519b-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-523-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-518f-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-526a-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-520c-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-518e-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-518d-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-522-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-519a-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| Mayo | ENST00000374454 | 70289522 | 70289593 | hsa-miR-4642 | chrX:70289540-70289547 | 8mer-1a | chrX:70289539-70289560 | 150.00 | -20.46 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-519c-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-519b-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-523-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-518f-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-526a-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-520c-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-518e-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-518d-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-522-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-519a-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| MSBB | ENST00000374454 | 70289522 | 70289593 | hsa-miR-4642 | chrX:70289540-70289547 | 8mer-1a | chrX:70289539-70289560 | 150.00 | -20.46 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-519c-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-519b-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-523-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-518f-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-526a-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-520c-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-518e-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-518d-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-522-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-519a-5p | chrX:70289563-70289570 | 8mer-1a | chrX:70289550-70289578 | 148.00 | -23.09 |
| ROSMAP | ENST00000374454 | 70289522 | 70289593 | hsa-miR-4642 | chrX:70289540-70289547 | 8mer-1a | chrX:70289539-70289560 | 150.00 | -20.46 |
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SNVs in the skipped exons for PDZD11 |
| - 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 PDZD11 |
| 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 PDZD11 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_11840 | rs11094146 | chrX:70219663 | 3.856474e-04 | 4.918863e-02 |
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Correlation with RNA binding proteins (RBPs) for PDZD11 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| PCC | PTBP1 | exon_skip_11840 | 4.645028e-01 | 7.509432e-13 |
| TC | HNRNPA0 | exon_skip_11840 | -5.496280e-01 | 5.198798e-14 |
| TC | NUP42 | exon_skip_11840 | -5.454142e-01 | 8.814680e-14 |
| TC | RALYL | exon_skip_11840 | -6.106463e-01 | 1.004383e-17 |
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RelatedDrugs for PDZD11 |
| 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 PDZD11 |
| 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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