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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 PHYHIP |
 Gene summary |
| Gene information | Gene symbol | PHYHIP | Gene ID | 9796 |
| Gene name | phytanoyl-CoA 2-hydroxylase interacting protein | |
| Synonyms | DYRK1AP3|PAHX-AP|PAHXAP1 | |
| Cytomap | 8p21.3 | |
| Type of gene | protein-coding | |
| Description | phytanoyl-CoA hydroxylase-interacting proteinDYRK1A interacting protein 3PAHX-AP1phytanoyl-CoA alpha-hydroxylase associated proteinphytanoyl-CoA hydroxylase-associated protein 1 | |
| Modification date | 20200313 | |
| UniProtAcc | E5RHN5, Q92561, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| PHYHIP | GO:0008104 | protein localization | 15694837 |
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Gene structures and expression levels for PHYHIP |
| 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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ENSG00000168490
| 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 PHYHIP |
| 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_223127 | chr8 | 22228193:22228386:22228788:22228909:22231796:22231853 | 22228788:22228909 |
| exon_skip_36607 | chr8 | 22228193:22228386:22228788:22228909:22231796:22232099 | 22228788:22228909 |
| exon_skip_61516 | chr8 | 22221458:22221887:22224226:22224343:22226851:22227025 | 22224226:22224343 |
| 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 PHYHIP |
| 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 |
| ENST00000321613 | 22228788 | 22228909 | 3UTR-3UTR |
| ENST00000321613 | 22224226 | 22224343 | Frame-shift |
| ENST00000454243 | 22224226 | 22224343 | 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 |
| ENST00000321613 | 22228788 | 22228909 | 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 |
| ENST00000321613 | 22228788 | 22228909 | 3UTR-3UTR |
| ENST00000321613 | 22224226 | 22224343 | Frame-shift |
| ENST00000454243 | 22224226 | 22224343 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PHYHIP |
p-ENSG00000168490_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 PHYHIP |
| 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 | ENST00000321613 | 22228788 | 22228909 | hsa-miR-5699-5p | chr8:22228813-22228820 | 8mer-1a | chr8:22228797-22228822 | 151.00 | -30.53 |
| Mayo | ENST00000321613 | 22228788 | 22228909 | hsa-miR-9718 | chr8:22228883-22228890 | 8mer-1a | chr8:22228871-22228890 | 162.00 | -27.72 |
| Mayo | ENST00000321613 | 22228788 | 22228909 | hsa-miR-628-5p | chr8:22228883-22228890 | 8mer-1a | chr8:22228871-22228890 | 162.00 | -27.72 |
| Mayo | ENST00000321613 | 22228788 | 22228909 | hsa-miR-4784 | chr8:22228870-22228877 | 8mer-1a | chr8:22228859-22228878 | 149.00 | -29.28 |
| Mayo | ENST00000321613 | 22228788 | 22228909 | hsa-miR-3150b-3p | chr8:22228870-22228877 | 8mer-1a | chr8:22228859-22228878 | 149.00 | -29.28 |
| MSBB | ENST00000321613 | 22228788 | 22228909 | hsa-miR-5699-5p | chr8:22228813-22228820 | 8mer-1a | chr8:22228797-22228822 | 151.00 | -30.53 |
| MSBB | ENST00000321613 | 22228788 | 22228909 | hsa-miR-9718 | chr8:22228883-22228890 | 8mer-1a | chr8:22228871-22228890 | 162.00 | -27.72 |
| MSBB | ENST00000321613 | 22228788 | 22228909 | hsa-miR-628-5p | chr8:22228883-22228890 | 8mer-1a | chr8:22228871-22228890 | 162.00 | -27.72 |
| MSBB | ENST00000321613 | 22228788 | 22228909 | hsa-miR-4784 | chr8:22228870-22228877 | 8mer-1a | chr8:22228859-22228878 | 149.00 | -29.28 |
| MSBB | ENST00000321613 | 22228788 | 22228909 | hsa-miR-3150b-3p | chr8:22228870-22228877 | 8mer-1a | chr8:22228859-22228878 | 149.00 | -29.28 |
| ROSMAP | ENST00000321613 | 22228788 | 22228909 | hsa-miR-5699-5p | chr8:22228813-22228820 | 8mer-1a | chr8:22228797-22228822 | 151.00 | -30.53 |
| ROSMAP | ENST00000321613 | 22228788 | 22228909 | hsa-miR-9718 | chr8:22228883-22228890 | 8mer-1a | chr8:22228871-22228890 | 162.00 | -27.72 |
| ROSMAP | ENST00000321613 | 22228788 | 22228909 | hsa-miR-628-5p | chr8:22228883-22228890 | 8mer-1a | chr8:22228871-22228890 | 162.00 | -27.72 |
| ROSMAP | ENST00000321613 | 22228788 | 22228909 | hsa-miR-4784 | chr8:22228870-22228877 | 8mer-1a | chr8:22228859-22228878 | 149.00 | -29.28 |
| ROSMAP | ENST00000321613 | 22228788 | 22228909 | hsa-miR-3150b-3p | chr8:22228870-22228877 | 8mer-1a | chr8:22228859-22228878 | 149.00 | -29.28 |
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SNVs in the skipped exons for PHYHIP |
| - 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 PHYHIP |
| 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 PHYHIP |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_36607 | rs7821707 | chr8:22228505 | 2.859911e-04 | 3.928817e-02 |
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Correlation with RNA binding proteins (RBPs) for PHYHIP |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP1 | exon_skip_36607 | -4.472980e-01 | 3.401994e-09 |
| CB | PCBP4 | exon_skip_36607 | 5.850586e-01 | 5.578508e-16 |
| CB | TRA2A | exon_skip_36607 | -5.272970e-01 | 9.281008e-13 |
| CB | EIF4G2 | exon_skip_36607 | -4.247569e-01 | 2.401649e-08 |
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RelatedDrugs for PHYHIP |
| 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 PHYHIP |
| 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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