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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 PCDH9 |
Gene summary |
Gene information | Gene symbol | PCDH9 | Gene ID | 5101 |
Gene name | protocadherin 9 | |
Synonyms | - | |
Cytomap | 13q21.32 | |
Type of gene | protein-coding | |
Description | protocadherin-9cadherin superfamily protein VR4-11 | |
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 PCDH9 |
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 |
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 PCDH9 |
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_128985 | chr13 | 66903504:66903605:67225405:67228575:67229780:67229818 | 67225405:67228575 |
exon_skip_142782 | chr13 | 66631210:66631411:66903504:66903605:67225405:67228131 | 66903504:66903605 |
exon_skip_158065 | chr13 | 66631210:66631411:66903504:66903605:67225405:67228575 | 66903504:66903605 |
exon_skip_46530 | chr13 | 66631210:66631411:66903504:66903605:67225405:67225883 | 66903504:66903605 |
exon_skip_75363 | chr13 | 66631210:66631411:66903504:66903605:67225405:67226071 | 66903504:66903605 |
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 PCDH9 |
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 |
ENST00000377865 | 66903504 | 66903605 | 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 |
ENST00000377865 | 66903504 | 66903605 | 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 |
ENST00000377865 | 66903504 | 66903605 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PCDH9 |
p-ENSG00000184226_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 |
ENST00000377865 | 5726 | 1237 | 66903504 | 66903605 | 3211 | 3311 | 1012 | 1045 |
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 |
ENST00000377865 | 5726 | 1237 | 66903504 | 66903605 | 3211 | 3311 | 1012 | 1045 |
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 |
ENST00000377865 | 5726 | 1237 | 66903504 | 66903605 | 3211 | 3311 | 1012 | 1045 |
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 |
Q9HC56 | 1012 | 1045 | 1013 | 1046 | Alternative sequence | ID=VSP_035430;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.1;Dbxref=PMID:17974005 |
Q9HC56 | 1012 | 1045 | 24 | 1237 | Chain | ID=PRO_0000003994;Note=Protocadherin-9 |
Q9HC56 | 1012 | 1045 | 836 | 1237 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q9HC56 | 1012 | 1045 | 1013 | 1046 | Alternative sequence | ID=VSP_035430;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.1;Dbxref=PMID:17974005 |
Q9HC56 | 1012 | 1045 | 24 | 1237 | Chain | ID=PRO_0000003994;Note=Protocadherin-9 |
Q9HC56 | 1012 | 1045 | 836 | 1237 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q9HC56 | 1012 | 1045 | 1013 | 1046 | Alternative sequence | ID=VSP_035430;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.1;Dbxref=PMID:17974005 |
Q9HC56 | 1012 | 1045 | 24 | 1237 | Chain | ID=PRO_0000003994;Note=Protocadherin-9 |
Q9HC56 | 1012 | 1045 | 836 | 1237 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PCDH9 |
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 PCDH9 |
- 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 PCDH9 |
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 |
CDR | MSBB | IFG | exon_skip_158065 | 4.272213e-01 | 2.335910e-02 | chr13 | - | 66631210 | 66631411 | 66903504 | 66903605 | 67225405 | 67228575 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PCDH9 |
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 PCDH9 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
IFG | EWSR1 | exon_skip_83709 | 4.424037e-01 | 1.840512e-02 |
STG | NOVA1 | exon_skip_83709 | 4.763652e-01 | 2.373362e-06 |
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RelatedDrugs for PCDH9 |
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 PCDH9 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |