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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 PHKB |
Gene summary |
Gene information | Gene symbol | PHKB | Gene ID | 5257 |
Gene name | phosphorylase kinase regulatory subunit beta | |
Synonyms | - | |
Cytomap | 16q12.1 | |
Type of gene | protein-coding | |
Description | phosphorylase b kinase regulatory subunit betaphosphorylase kinase beta-subunitphosphorylase kinase subunit betaphosphorylase kinase, beta | |
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 PHKB |
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 | ENST00000566044.5 | PHKB-208:protein_coding:PHKB | 4.362572e+02 | 9.045152e-01 | 2.026326e-03 | 9.316124e-03 |
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 PHKB |
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_102627 | chr16 | 47461350:47461426:47463882:47463993:47497399:47497488 | 47463882:47463993 |
exon_skip_129264 | chr16 | 47663677:47663734:47664885:47664975:47669215:47669417 | 47664885:47664975 |
exon_skip_137219 | chr16 | 47650544:47650626:47650831:47650921:47660506:47660567 | 47650831:47650921 |
exon_skip_164890 | chr16 | 47547433:47547548:47580295:47580358:47587668:47587758 | 47580295:47580358 |
exon_skip_209595 | chr16 | 47593500:47593557:47594137:47594214:47596373:47596531 | 47594137:47594214 |
exon_skip_233195 | chr16 | 47497399:47497488:47499756:47499894:47502991:47503090 | 47499756:47499894 |
exon_skip_251333 | chr16 | 47661719:47661800:47663677:47663734:47665942:47666032 | 47663677:47663734 |
exon_skip_279070 | chr16 | 47547433:47547548:47562398:47562495:47580295:47580358 | 47562398:47562495 |
exon_skip_289271 | chr16 | 47663677:47663734:47665942:47666032:47669215:47669417 | 47665942:47666032 |
exon_skip_36513 | chr16 | 47648533:47648616:47649100:47649204:47650544:47650626 | 47649100:47649204 |
exon_skip_55529 | chr16 | 47641035:47641090:47641599:47641692:47648533:47648616 | 47641599:47641692 |
exon_skip_81468 | chr16 | 47461350:47461426:47462341:47462452:47463882:47463993 | 47462341:47462452 |
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 PHKB |
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 |
ENST00000323584 | 47499756 | 47499894 | Frame-shift |
ENST00000323584 | 47580295 | 47580358 | Frame-shift |
ENST00000323584 | 47664885 | 47664975 | Frame-shift |
ENST00000323584 | 47594137 | 47594214 | 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 |
ENST00000323584 | 47499756 | 47499894 | Frame-shift |
ENST00000323584 | 47580295 | 47580358 | Frame-shift |
ENST00000323584 | 47641599 | 47641692 | Frame-shift |
ENST00000323584 | 47650831 | 47650921 | Frame-shift |
ENST00000323584 | 47664885 | 47664975 | Frame-shift |
ENST00000323584 | 47594137 | 47594214 | 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 |
ENST00000323584 | 47580295 | 47580358 | Frame-shift |
ENST00000323584 | 47664885 | 47664975 | Frame-shift |
ENST00000323584 | 47594137 | 47594214 | In-frame |
ENST00000323584 | 47649100 | 47649204 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PHKB |
p-ENSG00000102893_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 |
ENST00000323584 | 4300 | 1093 | 47594137 | 47594214 | 1152 | 1228 | 376 | 401 |
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 |
ENST00000323584 | 4300 | 1093 | 47594137 | 47594214 | 1152 | 1228 | 376 | 401 |
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 |
ENST00000323584 | 4300 | 1093 | 47594137 | 47594214 | 1152 | 1228 | 376 | 401 |
ENST00000323584 | 4300 | 1093 | 47649100 | 47649204 | 1718 | 1821 | 564 | 599 |
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 |
Q93100 | 376 | 401 | 2 | 1093 | Chain | ID=PRO_0000057736;Note=Phosphorylase b kinase regulatory subunit beta |
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 |
Q93100 | 376 | 401 | 2 | 1093 | Chain | ID=PRO_0000057736;Note=Phosphorylase b kinase regulatory subunit beta |
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 |
Q93100 | 376 | 401 | 2 | 1093 | Chain | ID=PRO_0000057736;Note=Phosphorylase b kinase regulatory subunit beta |
Q93100 | 564 | 599 | 2 | 1093 | Chain | ID=PRO_0000057736;Note=Phosphorylase b kinase regulatory subunit beta |
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3'-UTR located exon skipping events that lost miRNA binding sites in PHKB |
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 PHKB |
- 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 PHKB |
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 PHKB |
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 PHKB |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | HNRNPA0 | exon_skip_277911 | 4.257375e-01 | 1.015022e-06 |
CB | RALYL | exon_skip_277911 | 4.642937e-01 | 7.175141e-08 |
HCC | RBM6 | exon_skip_102627 | -4.740339e-01 | 1.781021e-16 |
HCC | RBM5 | exon_skip_102627 | -4.728359e-01 | 2.170212e-16 |
HCC | TRNAU1AP | exon_skip_102627 | -4.036344e-01 | 5.803543e-12 |
HCC | UNK | exon_skip_102627 | -4.428605e-01 | 2.389258e-14 |
HCC | KHDRBS3 | exon_skip_102627 | -4.216987e-01 | 5.052387e-13 |
HCC | PTBP1 | exon_skip_102627 | -5.315731e-01 | 5.073122e-21 |
HCC | RBM4B | exon_skip_102627 | -4.444517e-01 | 1.882954e-14 |
HCC | RBM6 | exon_skip_277911 | -5.086442e-01 | 4.851520e-19 |
HCC | RBM5 | exon_skip_277911 | -5.022523e-01 | 1.557862e-18 |
HCC | UNK | exon_skip_277911 | -4.502997e-01 | 8.711050e-15 |
HCC | PTBP1 | exon_skip_277911 | -5.549970e-01 | 4.715582e-23 |
HCC | RBM4B | exon_skip_277911 | -4.613209e-01 | 1.575274e-15 |
PCC | PTBP1 | exon_skip_102627 | -4.407268e-01 | 6.526244e-11 |
PCC | RALYL | exon_skip_277911 | 4.098657e-01 | 1.383662e-09 |
PCC | PTBP1 | exon_skip_277911 | -4.755596e-01 | 8.548635e-13 |
TC | KHDRBS2 | exon_skip_102627 | 4.269274e-01 | 6.188908e-07 |
TC | KHDRBS3 | exon_skip_102627 | 4.318741e-01 | 4.433340e-07 |
TC | RALYL | exon_skip_102627 | 4.507155e-01 | 1.184050e-07 |
TC | HNRNPA0 | exon_skip_277911 | 4.299972e-01 | 2.158168e-07 |
TC | RALYL | exon_skip_277911 | 5.255030e-01 | 7.060020e-11 |
TC | PTBP1 | exon_skip_277911 | -4.528165e-01 | 3.942953e-08 |
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RelatedDrugs for PHKB |
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 PHKB |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |