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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ICK |
 Gene summary |
| Gene information | Gene symbol | ICK | Gene ID | 22858 |
| Gene name | intestinal cell kinase | |
| Synonyms | ECO|EJM10|LCK2|MRK | |
| Cytomap | 6p12.1 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase ICKMAK-related kinasehICKintestinal cell (MAK-like) kinaselaryngeal cancer kinase 2serine/threonine protein kinase | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UPZ9 | |
| Context | PubMed: ICK [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ICK | GO:0006468 | protein phosphorylation | 10699974 |
| ICK | GO:0035556 | intracellular signal transduction | 10699974 |
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Exon skipping events across known transcript of Ensembl for ICK from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for ICK |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ICK |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460185 | 6 | 52871112:52871235:52874236:52874365:52876566:52876715 | 52874236:52874365 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460187 | 6 | 52880880:52881048:52883127:52883299:52884024:52884157 | 52883127:52883299 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460188 | 6 | 52883127:52883299:52884024:52884157:52895862:52895942 | 52884024:52884157 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460189 | 6 | 52884024:52884157:52895862:52895942:52897330:52897452 | 52895862:52895942 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460193 | 6 | 52897330:52897452:52902736:52902791:52905933:52906206 | 52902736:52902791 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460198 | 6 | 52905933:52906206:52925733:52925844:52926393:52926568 | 52925733:52925844 | ENSG00000112144.11 | ENST00000356971.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ICK |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460185 | 6 | 52871112:52871235:52874236:52874365:52876566:52876715 | 52874236:52874365 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460187 | 6 | 52880880:52881048:52883127:52883299:52884024:52884157 | 52883127:52883299 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460188 | 6 | 52883127:52883299:52884024:52884157:52895862:52895942 | 52884024:52884157 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460189 | 6 | 52884024:52884157:52895862:52895942:52897330:52897452 | 52895862:52895942 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460193 | 6 | 52897330:52897452:52902736:52902791:52905933:52906206 | 52902736:52902791 | ENSG00000112144.11 | ENST00000350082.5,ENST00000356971.3 |
| exon_skip_460198 | 6 | 52905933:52906206:52925733:52925844:52926393:52926568 | 52925733:52925844 | ENSG00000112144.11 | ENST00000356971.3 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ICK |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000356971 | 52925733 | 52925844 | 3UTR-3UTR |
| ENST00000350082 | 52883127 | 52883299 | Frame-shift |
| ENST00000356971 | 52883127 | 52883299 | Frame-shift |
| ENST00000350082 | 52884024 | 52884157 | Frame-shift |
| ENST00000356971 | 52884024 | 52884157 | Frame-shift |
| ENST00000350082 | 52895862 | 52895942 | Frame-shift |
| ENST00000356971 | 52895862 | 52895942 | Frame-shift |
| ENST00000350082 | 52902736 | 52902791 | Frame-shift |
| ENST00000356971 | 52902736 | 52902791 | Frame-shift |
| ENST00000350082 | 52874236 | 52874365 | In-frame |
| ENST00000356971 | 52874236 | 52874365 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000356971 | 52925733 | 52925844 | 3UTR-3UTR |
| ENST00000350082 | 52883127 | 52883299 | Frame-shift |
| ENST00000356971 | 52883127 | 52883299 | Frame-shift |
| ENST00000350082 | 52884024 | 52884157 | Frame-shift |
| ENST00000356971 | 52884024 | 52884157 | Frame-shift |
| ENST00000350082 | 52895862 | 52895942 | Frame-shift |
| ENST00000356971 | 52895862 | 52895942 | Frame-shift |
| ENST00000350082 | 52902736 | 52902791 | Frame-shift |
| ENST00000356971 | 52902736 | 52902791 | Frame-shift |
| ENST00000350082 | 52874236 | 52874365 | In-frame |
| ENST00000356971 | 52874236 | 52874365 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ICK |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000350082 | 6133 | 632 | 52874236 | 52874365 | 1840 | 1968 | 497 | 540 |
| ENST00000356971 | 6244 | 632 | 52874236 | 52874365 | 1983 | 2111 | 497 | 540 |
| Loci of skipped exons in GTEx 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 |
| ENST00000350082 | 6133 | 632 | 52874236 | 52874365 | 1840 | 1968 | 497 | 540 |
| ENST00000356971 | 6244 | 632 | 52874236 | 52874365 | 1983 | 2111 | 497 | 540 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q9UPZ9 | 497 | 540 | 293 | 632 | Alternative sequence | ID=VSP_050753;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UPZ9 | 497 | 540 | 293 | 632 | Alternative sequence | ID=VSP_050753;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UPZ9 | 497 | 540 | 1 | 632 | Chain | ID=PRO_0000086007;Note=Serine/threonine-protein kinase ICK |
| Q9UPZ9 | 497 | 540 | 1 | 632 | Chain | ID=PRO_0000086007;Note=Serine/threonine-protein kinase ICK |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q9UPZ9 | 497 | 540 | 293 | 632 | Alternative sequence | ID=VSP_050753;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UPZ9 | 497 | 540 | 293 | 632 | Alternative sequence | ID=VSP_050753;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9UPZ9 | 497 | 540 | 1 | 632 | Chain | ID=PRO_0000086007;Note=Serine/threonine-protein kinase ICK |
| Q9UPZ9 | 497 | 540 | 1 | 632 | Chain | ID=PRO_0000086007;Note=Serine/threonine-protein kinase ICK |
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SNVs in the skipped exons for ICK |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| BLCA | TCGA-E5-A2PC-01 | exon_skip_460187 | 52883128 | 52883299 | 52883129 | 52883129 | Frame_Shift_Del | T | - | p.K221fs |
| GBM | TCGA-27-2523-01 | exon_skip_460187 | 52883128 | 52883299 | 52883129 | 52883129 | Frame_Shift_Del | T | - | p.K221_splice |
| HNSC | TCGA-CV-6954-01 | exon_skip_460187 | 52883128 | 52883299 | 52883129 | 52883129 | Frame_Shift_Del | T | - | p.K221fs |
| LUAD | TCGA-78-7633-01 | exon_skip_460187 | 52883128 | 52883299 | 52883129 | 52883129 | Frame_Shift_Del | T | - | p.K221fs |
| LUAD | TCGA-86-8358-01 | exon_skip_460187 | 52883128 | 52883299 | 52883238 | 52883238 | Frame_Shift_Del | C | - | p.A185fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_460187 | 52883128 | 52883299 | 52883251 | 52883251 | Frame_Shift_Del | G | - | p.P180fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_460188 | 52884025 | 52884157 | 52884057 | 52884057 | Frame_Shift_Del | T | - | p.K153fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_460187 | 52883128 | 52883299 | 52883139 | 52883140 | Frame_Shift_Ins | - | C | p.T218fs |
| ESCA | TCGA-XP-A8T8-01 | exon_skip_460185 | 52874237 | 52874365 | 52874301 | 52874301 | Nonsense_Mutation | C | T | p.W519X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| NCIH209_LUNG | 52874237 | 52874365 | 52874250 | 52874250 | Missense_Mutation | G | C | p.S536R |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52883128 | 52883299 | 52883141 | 52883141 | Missense_Mutation | C | A | p.G217V |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52883128 | 52883299 | 52883145 | 52883145 | Missense_Mutation | G | T | p.L216M |
| C33A_CERVIX | 52883128 | 52883299 | 52883202 | 52883202 | Missense_Mutation | T | C | p.R197G |
| SNU1040_LARGE_INTESTINE | 52883128 | 52883299 | 52883252 | 52883252 | Missense_Mutation | G | T | p.P180H |
| SNU1040_LARGE_INTESTINE | 52884025 | 52884157 | 52884038 | 52884038 | Missense_Mutation | C | T | p.V160I |
| NCIH1651_LUNG | 52884025 | 52884157 | 52884112 | 52884112 | Missense_Mutation | C | A | p.G135V |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52884025 | 52884157 | 52884115 | 52884115 | Missense_Mutation | A | G | p.M134T |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52902737 | 52902791 | 52902751 | 52902751 | Missense_Mutation | G | A | p.L48F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ICK |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ICK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ICK |
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RelatedDrugs for ICK |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9UPZ9 | DB12010 | Fostamatinib | Serine/threonine-protein kinase ICK | small molecule | approved|investigational |
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RelatedDiseases for ICK |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ICK | C2675227 | Endocrine-Cerebroosteodysplasia | 1 | CTD_human;ORPHANET;UNIPROT |
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