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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 IQCK |
 Gene summary |
| Gene information | Gene symbol | IQCK | Gene ID | 124152 |
| Gene name | IQ motif containing K | |
| Synonyms | - | |
| Cytomap | 16p12.3 | |
| Type of gene | protein-coding | |
| Description | IQ domain-containing protein K | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 30820047(Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Abeta, tau, immunity and lipid processing) |
| 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 IQCK |
| 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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ENSG00000174628
| 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 |
| PG | UP | ENST00000320394.10 | IQCK-202:protein_coding:IQCK | 1.214542e+01 | 2.386983e+00 | 4.650338e-04 | 8.380855e-03 |
| CB | DOWN | ENST00000568126.5 | IQCK-211:nonsense_mediated_decay:IQCK | 6.361744e+00 | -1.112387e+00 | 9.379845e-10 | 4.156794e-08 |
| TC | UP | ENST00000561839.5 | IQCK-203:nonsense_mediated_decay:IQCK | 5.034694e+01 | 8.880251e-01 | 1.766708e-12 | 6.045307e-10 |
| 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 IQCK |
| 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_114417 | chr16 | 19735353:19735450:19763848:19763900:19764035:19764112 | 19763848:19763900 |
| exon_skip_143959 | chr16 | 19733698:19733827:19735353:19735450:19788838:19788922 | 19735353:19735450 |
| exon_skip_144930 | chr16 | 19733698:19733827:19735353:19735450:19763848:19763900 | 19735353:19735450 |
| exon_skip_151868 | chr16 | 19718279:19718487:19730430:19730494:19733698:19733827 | 19730430:19730494 |
| exon_skip_1775 | chr16 | 19733698:19733827:19763848:19764112:19788838:19788922 | 19763848:19764112 |
| exon_skip_18758 | chr16 | 19735353:19735450:19736112:19736192:19763848:19763900 | 19736112:19736192 |
| exon_skip_231011 | chr16 | 19730430:19730494:19733698:19733827:19763848:19763900 | 19733698:19733827 |
| exon_skip_236883 | chr16 | 19735414:19735450:19763848:19764112:19788838:19788922 | 19763848:19764112 |
| exon_skip_237058 | chr16 | 19735353:19735450:19763848:19764112:19788838:19788922 | 19763848:19764112 |
| exon_skip_258683 | chr16 | 19764035:19764112:19788838:19788922:19827026:19827075 | 19788838:19788922 |
| exon_skip_52029 | chr16 | 19735353:19735450:19788838:19788922:19827026:19827075 | 19788838:19788922 |
| exon_skip_83380 | chr16 | 19718416:19718487:19730430:19730494:19733698:19733827 | 19730430:19730494 |
| exon_skip_99674 | chr16 | 19763848:19763900:19764035:19764112:19788838:19788922 | 19764035:19764112 |
| 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 IQCK |
| 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 |
| ENST00000320394 | 19730430 | 19730494 | Frame-shift |
| ENST00000320394 | 19735353 | 19735450 | Frame-shift |
| ENST00000320394 | 19788838 | 19788922 | Frame-shift |
| ENST00000320394 | 19764035 | 19764112 | 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 |
| ENST00000320394 | 19730430 | 19730494 | Frame-shift |
| ENST00000320394 | 19735353 | 19735450 | Frame-shift |
| 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 |
| ENST00000320394 | 19730430 | 19730494 | Frame-shift |
| ENST00000320394 | 19735353 | 19735450 | Frame-shift |
| ENST00000320394 | 19763848 | 19763900 | Frame-shift |
| ENST00000320394 | 19788838 | 19788922 | Frame-shift |
| ENST00000320394 | 19764035 | 19764112 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IQCK |
p-ENSG00000174628_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 |
| ENST00000320394 | 3499 | 287 | 19764035 | 19764112 | 1228 | 1304 | 176 | 201 |
| 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 |
| ENST00000320394 | 3499 | 287 | 19764035 | 19764112 | 1228 | 1304 | 176 | 201 |
| 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 |
| Q8N0W5 | 176 | 201 | 159 | 209 | Alternative sequence | ID=VSP_024204;Note=In isoform 3. RKRTKFIACDFLTEWLYNQNPKRAGEPFTEFFSIPFVEERLKQHPRPPIPL->VSCLAGFLYFEILNHSLLSDDSSLSWYHQVVLQMTPSGGKACVWGHLPSSSHTI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N0W5 | 176 | 201 | 159 | 189 | Alternative sequence | ID=VSP_024205;Note=In isoform 2. RKRTKFIACDFLTEWLYNQNPKRAGEPFTEF->PTAANPTLAPADRRGSSPLHSILLESLCGSL;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q8N0W5 | 176 | 201 | 190 | 287 | Alternative sequence | ID=VSP_024206;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q8N0W5 | 176 | 201 | 1 | 287 | Chain | ID=PRO_0000282574;Note=IQ domain-containing protein K |
| 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 |
| Q8N0W5 | 176 | 201 | 159 | 209 | Alternative sequence | ID=VSP_024204;Note=In isoform 3. RKRTKFIACDFLTEWLYNQNPKRAGEPFTEFFSIPFVEERLKQHPRPPIPL->VSCLAGFLYFEILNHSLLSDDSSLSWYHQVVLQMTPSGGKACVWGHLPSSSHTI;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N0W5 | 176 | 201 | 159 | 189 | Alternative sequence | ID=VSP_024205;Note=In isoform 2. RKRTKFIACDFLTEWLYNQNPKRAGEPFTEF->PTAANPTLAPADRRGSSPLHSILLESLCGSL;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q8N0W5 | 176 | 201 | 190 | 287 | Alternative sequence | ID=VSP_024206;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q8N0W5 | 176 | 201 | 1 | 287 | Chain | ID=PRO_0000282574;Note=IQ domain-containing protein K |
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3'-UTR located exon skipping events that lost miRNA binding sites in IQCK |
| 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 IQCK |
| - 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 IQCK |
| 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 IQCK |
| 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 IQCK |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for IQCK |
| 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 IQCK |
| 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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