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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 KNOP1 |
Gene summary |
Gene information | Gene symbol | KNOP1 | Gene ID | 400506 |
Gene name | lysine rich nucleolar protein 1 | |
Synonyms | 101F10.1|C16orf88|FAM191A|TSG118 | |
Cytomap | 16p12.3 | |
Type of gene | protein-coding | |
Description | lysine-rich nucleolar protein 1family with sequence similarity 191, member Aprotein C16orf88testis-specific gene 118 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 KNOP1 |
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 KNOP1 |
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_129187 | chr16 | 19710509:19710586:19711372:19711440:19714118:19714577 | 19711372:19711440 |
exon_skip_21172 | chr16 | 19707165:19707221:19710509:19710586:19714118:19714577 | 19710509:19710586 |
exon_skip_293236 | chr16 | 19710509:19710586:19711372:19711440:19714118:19714186 | 19711372:19711440 |
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 KNOP1 |
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 |
ENST00000219837 | 19711372 | 19711440 | 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 |
ENST00000219837 | 19711372 | 19711440 | 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 |
ENST00000219837 | 19711372 | 19711440 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KNOP1 |
p-ENSG00000103550_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 KNOP1 |
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 KNOP1 |
- 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 KNOP1 |
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 KNOP1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_129187 | rs3829539 | chr16:19711044 | 1.827719e-05 | 4.314792e-03 |
CB | exon_skip_129187 | rs2239973 | chr16:19700117 | 2.846713e-05 | 6.143033e-03 |
CB | exon_skip_129187 | rs1544352 | chr16:19702560 | 2.846713e-05 | 6.143033e-03 |
CB | exon_skip_129187 | rs4780822 | chr16:19716676 | 2.846713e-05 | 6.143033e-03 |
CB | exon_skip_129187 | rs8056301 | chr16:19738953 | 2.846713e-05 | 6.143033e-03 |
CB | exon_skip_129187 | rs8050872 | chr16:19792524 | 2.846713e-05 | 6.143033e-03 |
DLPFC | exon_skip_129187 | rs2239973 | chr16:19700117 | 1.013511e-07 | 1.891620e-05 |
DLPFC | exon_skip_129187 | rs1021865 | chr16:19773369 | 1.083669e-07 | 2.004643e-05 |
DLPFC | exon_skip_129187 | rs8056301 | chr16:19738953 | 1.459747e-07 | 2.613511e-05 |
DLPFC | exon_skip_129187 | rs4782281 | chr16:19758501 | 1.459747e-07 | 2.613511e-05 |
DLPFC | exon_skip_129187 | rs9933567 | chr16:19781689 | 1.459747e-07 | 2.613511e-05 |
DLPFC | exon_skip_129187 | rs8050872 | chr16:19792524 | 1.622992e-07 | 2.856791e-05 |
DLPFC | exon_skip_129187 | rs6497404 | chr16:19788811 | 1.651679e-07 | 2.904226e-05 |
DLPFC | exon_skip_129187 | rs1858973 | chr16:19732327 | 2.108335e-07 | 3.605135e-05 |
DLPFC | exon_skip_129187 | rs6497395 | chr16:19700147 | 3.131712e-07 | 5.231306e-05 |
DLPFC | exon_skip_129187 | rs6497402 | chr16:19758072 | 3.516801e-07 | 5.765035e-05 |
DLPFC | exon_skip_129187 | rs8055485 | chr16:19738729 | 4.273694e-07 | 6.890836e-05 |
DLPFC | exon_skip_129187 | rs4780822 | chr16:19716676 | 5.186418e-07 | 8.165455e-05 |
DLPFC | exon_skip_129187 | rs3829539 | chr16:19711044 | 5.390122e-07 | 8.422658e-05 |
DLPFC | exon_skip_129187 | rs2074037 | chr16:19713808 | 5.390122e-07 | 8.422658e-05 |
DLPFC | exon_skip_129187 | rs11648129 | chr16:19809372 | 5.750754e-07 | 8.919436e-05 |
DLPFC | exon_skip_129187 | rs16951276 | chr16:19751613 | 2.344014e-06 | 3.124910e-04 |
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Correlation with RNA binding proteins (RBPs) for KNOP1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for KNOP1 |
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 KNOP1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |