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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 PJVK |
Gene summary |
Gene information | Gene symbol | PJVK | Gene ID | 494513 |
Gene name | pejvakin | |
Synonyms | DFNB59 | |
Cytomap | 2q31.2 | |
Type of gene | protein-coding | |
Description | pejvakinautosomal recessive deafness type 59 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 PJVK |
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 | DOWN | ENST00000642762.1 | PJVK-207:protein_coding:PJVK | 8.626796e+00 | -1.292635e+00 | 3.880628e-08 | 9.513012e-07 |
CB | DOWN | ENST00000375129.8 | PJVK-201:protein_coding:PJVK | 7.417343e+00 | -1.450816e+00 | 8.964327e-03 | 3.179350e-02 |
TC | DOWN | ENST00000642192.1 | PJVK-205:protein_coding:PJVK | 1.422644e+01 | -9.515505e-01 | 8.420153e-03 | 4.939412e-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 PJVK |
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_130029 | chr2 | 178458510:178458627:178460348:178460446:178460982:178461215 | 178460348:178460446 |
exon_skip_160016 | chr2 | 178458534:178458627:178459193:178459269:178460348:178460420 | 178459193:178459269 |
exon_skip_192716 | chr2 | 178458510:178458627:178460348:178460420:178460982:178461215 | 178460348:178460420 |
exon_skip_195374 | chr2 | 178458534:178458627:178460348:178460446:178460982:178461204 | 178460348:178460446 |
exon_skip_199504 | chr2 | 178451704:178451769:178452458:178452569:178453431:178453620 | 178452458:178452569 |
exon_skip_21428 | chr2 | 178451704:178451769:178452458:178452569:178453553:178453620 | 178452458:178452569 |
exon_skip_278815 | chr2 | 178458510:178458627:178459193:178459269:178460348:178460420 | 178459193:178459269 |
exon_skip_55161 | chr2 | 178458534:178458627:178460348:178460420:178460982:178461204 | 178460348:178460420 |
exon_skip_55663 | chr2 | 178458534:178458627:178460348:178460420:178460982:178461285 | 178460348:178460420 |
exon_skip_97901 | chr2 | 178456010:178456151:178458510:178458627:178460982:178461204 | 178458510:178458627 |
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 |
exon_skip_195374 | Mayo_TC | 7.685714e-01 | 8.862121e-01 | -1.176407e-01 | 2.732190e-02 |
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Open reading frame (ORF) annotation in the exon skipping event for PJVK |
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 |
ENST00000375129 | 178460348 | 178460446 | In-frame |
ENST00000644580 | 178460348 | 178460446 | 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 |
ENST00000375129 | 178460348 | 178460446 | In-frame |
ENST00000644580 | 178460348 | 178460446 | 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 |
ENST00000375129 | 178460348 | 178460446 | In-frame |
ENST00000644580 | 178460348 | 178460446 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PJVK |
p-ENSG00000204311_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 PJVK |
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 PJVK |
- 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 PJVK |
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 PJVK |
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 PJVK |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PJVK |
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 PJVK |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |