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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for AP5Z1 |
Gene summary |
Gene information | Gene symbol | AP5Z1 | Gene ID | 9907 |
Gene name | adaptor related protein complex 5 subunit zeta 1 | |
Synonyms | KIAA0415|SPG48|zeta | |
Cytomap | 7p22.1 | |
Type of gene | protein-coding | |
Description | AP-5 complex subunit zeta-1adapter-related protein complex 5 zeta subunitadaptor related protein complex 5 zeta 1 subunitadaptor-related protein complex 5 zeta subunitzeta5 | |
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 AP5Z1 |
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. |
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 |
CB | UP | ENST00000649315.1 | AP5Z1-214:nonsense_mediated_decay:AP5Z1 | 2.044265e+01 | 8.456447e-01 | 1.630507e-06 | 2.272590e-05 |
CB | DOWN | ENST00000490487.1 | AP5Z1-204:lncRNA:AP5Z1 | 2.043252e+01 | -1.861556e+00 | 8.721940e-06 | 9.408984e-05 |
CB | DOWN | ENST00000648237.1 | AP5Z1-209:protein_coding:AP5Z1 | 2.043252e+01 | -1.861556e+00 | 8.721940e-06 | 9.408984e-05 |
CB | UP | ENST00000650451.1 | AP5Z1-218:nonsense_mediated_decay:AP5Z1 | 6.573260e+00 | 9.106153e-01 | 3.778921e-03 | 1.560839e-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 AP5Z1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_135191 | chr7 | 4789837:4789929:4790459:4790591:4790810:4790887 | 4790459:4790591 |
exon_skip_13665 | chr7 | 4789837:4789929:4790389:4790591:4790673:4790886 | 4790389:4790591 |
exon_skip_147362 | chr7 | 4787713:4787776:4788154:4788294:4788840:4788951 | 4788154:4788294 |
exon_skip_163803 | chr7 | 4785415:4785452:4785522:4785684:4786001:4786428 | 4785522:4785684 |
exon_skip_211678 | chr7 | 4781233:4781312:4781568:4781754:4783316:4783426 | 4781568:4781754 |
exon_skip_212905 | chr7 | 4789837:4789929:4790459:4790591:4790673:4790886 | 4790459:4790591 |
exon_skip_256816 | chr7 | 4783459:4783460:4783689:4783798:4784203:4784371 | 4783689:4783798 |
exon_skip_262996 | chr7 | 4781568:4781754:4783316:4783460:4783689:4783798 | 4783316:4783460 |
exon_skip_27332 | chr7 | 4781175:4781312:4781568:4781754:4783316:4783460 | 4781568:4781754 |
exon_skip_39900 | chr7 | 4789832:4789929:4790459:4790591:4790810:4790887 | 4790459:4790591 |
exon_skip_45111 | chr7 | 4789837:4789929:4790214:4790591:4790673:4790886 | 4790214:4790591 |
exon_skip_48513 | chr7 | 4789837:4789929:4790810:4790887:4791115:4791280 | 4790810:4790887 |
exon_skip_73298 | chr7 | 4789837:4789929:4790810:4790887:4791115:4791518 | 4790810:4790887 |
exon_skip_98336 | chr7 | 4781175:4781312:4781568:4781754:4783316:4783426 | 4781568:4781754 |
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 AP5Z1 |
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 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for AP5Z1 |
p-ENSG00000242802_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 |
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 |
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 AP5Z1 |
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 AP5Z1 |
- 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 AP5Z1 |
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 AP5Z1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_211678 | rs17135113 | chr7:4778321 | 1.007034e-09 | 8.300505e-07 |
CB | exon_skip_211678 | rs6463034 | chr7:4760063 | 1.150532e-08 | 7.096907e-06 |
CB | exon_skip_211678 | rs7800598 | chr7:4823046 | 3.366918e-07 | 1.418662e-04 |
CB | exon_skip_211678 | rs4724137 | chr7:4879646 | 1.552873e-04 | 2.447947e-02 |
TC | exon_skip_211678 | rs17135113 | chr7:4778321 | 2.420012e-09 | 1.642102e-06 |
TC | exon_skip_211678 | rs6463034 | chr7:4760063 | 2.997944e-09 | 1.967342e-06 |
TC | exon_skip_211678 | rs7800598 | chr7:4823046 | 1.360252e-05 | 3.207589e-03 |
HCC | exon_skip_27332 | rs17135109 | chr7:4776943 | 6.516875e-08 | 1.356791e-05 |
PCC | exon_skip_98336 | rs17135109 | chr7:4776943 | 1.513178e-11 | 1.793957e-08 |
PCC | exon_skip_98336 | rs17135113 | chr7:4778321 | 1.017992e-06 | 3.475833e-04 |
DLPFC | exon_skip_98336 | rs17135109 | chr7:4776943 | 6.569146e-05 | 5.880653e-03 |
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Correlation with RNA binding proteins (RBPs) for AP5Z1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | ZNF638 | exon_skip_77355 | -4.625444e-01 | 9.444539e-10 |
CB | PCBP4 | exon_skip_77355 | 4.021501e-01 | 1.626325e-07 |
CB | TRA2A | exon_skip_77355 | -4.356148e-01 | 1.062657e-08 |
CB | HNRNPA2B1 | exon_skip_77355 | -4.158708e-01 | 5.507798e-08 |
CB | RBM45 | exon_skip_77355 | 5.823054e-01 | 1.013826e-15 |
CB | RBM4 | exon_skip_77355 | -5.842640e-01 | 7.713335e-16 |
CB | RBM4B | exon_skip_77355 | -4.637390e-01 | 8.441122e-10 |
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RelatedDrugs for AP5Z1 |
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 AP5Z1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |