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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 JPH4 |
 Gene summary |
| Gene information | Gene symbol | JPH4 | Gene ID | 84502 |
| Gene name | junctophilin 4 | |
| Synonyms | JP4|JPHL1 | |
| Cytomap | 14q11.2 | |
| Type of gene | protein-coding | |
| Description | junctophilin-4JP-4junctophilin like 1junctophilin-like 1 protein | |
| 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 JPH4 |
| 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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ENSG00000092051
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| STG | UP | ENST00000544177.1 | JPH4-203:protein_coding:JPH4 | 4.900564e+01 | 1.899018e+00 | 1.020622e-07 | 8.367566e-05 |
| 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 JPH4 |
| 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_139297 | chr14 | 23577569:23577624:23577869:23577994:23578180:23578570 | 23577869:23577994 |
| exon_skip_15115 | chr14 | 23577075:23577624:23577869:23577994:23578180:23578570 | 23577869:23577994 |
| exon_skip_165208 | chr14 | 23569415:23569717:23570928:23571460:23571802:23571915 | 23570928:23571460 |
| exon_skip_205048 | chr14 | 23577603:23577624:23577869:23577994:23578180:23578423 | 23577869:23577994 |
| exon_skip_24698 | chr14 | 23577582:23577624:23577869:23577994:23578180:23578570 | 23577869:23577994 |
| exon_skip_267233 | chr14 | 23577582:23577624:23577869:23577994:23578180:23578423 | 23577869:23577994 |
| exon_skip_280063 | chr14 | 23569415:23569717:23570928:23571460:23571802:23571920 | 23570928:23571460 |
| exon_skip_287550 | chr14 | 23577603:23577624:23577869:23577994:23578180:23578570 | 23577869:23577994 |
| exon_skip_35323 | chr14 | 23575685:23576456:23577075:23577624:23578180:23578423 | 23577075:23577624 |
| exon_skip_44697 | chr14 | 23577138:23577624:23577869:23577994:23578180:23578570 | 23577869:23577994 |
| exon_skip_57152 | chr14 | 23577075:23577624:23577869:23577994:23578180:23578355 | 23577869:23577994 |
| exon_skip_7671 | chr14 | 23569686:23569717:23570928:23571460:23571802:23571920 | 23570928:23571460 |
| 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 JPH4 |
| 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 |
| ENST00000397118 | 23577869 | 23577994 | 3UTR-3UTR |
| ENST00000356300 | 23570928 | 23571460 | Frame-shift |
| ENST00000397118 | 23570928 | 23571460 | Frame-shift |
| 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 |
| ENST00000397118 | 23577869 | 23577994 | 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 |
| ENST00000356300 | 23577075 | 23577624 | 3UTR-3CDS |
| ENST00000397118 | 23577869 | 23577994 | 3UTR-3UTR |
| ENST00000356300 | 23570928 | 23571460 | Frame-shift |
| ENST00000397118 | 23570928 | 23571460 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for JPH4 |
p-ENSG00000092051_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 JPH4 |
| 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 | ENST00000397118 | 23577869 | 23577994 | hsa-miR-3664-3p | chr14:23577910-23577917 | 8mer-1a | chr14:23577899-23577924 | 156.00 | -32.02 |
| MSBB | ENST00000397118 | 23577869 | 23577994 | hsa-miR-3664-3p | chr14:23577910-23577917 | 8mer-1a | chr14:23577899-23577924 | 156.00 | -32.02 |
| ROSMAP | ENST00000397118 | 23577869 | 23577994 | hsa-miR-3664-3p | chr14:23577910-23577917 | 8mer-1a | chr14:23577899-23577924 | 156.00 | -32.02 |
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SNVs in the skipped exons for JPH4 |
| - 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 JPH4 |
| 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 JPH4 |
| 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 JPH4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for JPH4 |
| 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 JPH4 |
| 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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