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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 KLRC1 |
 Gene summary |
| Gene information | Gene symbol | KLRC1 | Gene ID | 3821 |
| Gene name | killer cell lectin like receptor C1 | |
| Synonyms | CD159A|NKG2|NKG2A | |
| Cytomap | 12p13.2 | |
| Type of gene | protein-coding | |
| Description | NKG2-A/NKG2-B type II integral membrane proteinC-lectin type II proteinCD159 antigen-like family member ANK cell receptor ANKG2-1/B activating NK receptorNKG2-A/B type II integral membrane proteinNKG2-A/B-activating NK receptorkiller cell lectin-li | |
| Modification date | 20180519 | |
| UniProtAcc | P26715 | |
| Context | PubMed: KLRC1 [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 |
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Exon skipping events across known transcript of Ensembl for KLRC1 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 KLRC1 |
| 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 KLRC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90047 | 12 | 10601835:10601987:10602512:10602566:10603082:10603178 | 10602512:10602566 | ENSG00000134545.9 | ENST00000359151.3,ENST00000536188.1,ENST00000544822.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KLRC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_90047 | 12 | 10601835:10601987:10602512:10602566:10603082:10603178 | 10602512:10602566 | ENSG00000134545.9 | ENST00000536188.1,ENST00000359151.3,ENST00000544822.1 |
| 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 KLRC1 |
| 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 |
| ENST00000359151 | 10602512 | 10602566 | In-frame |
| ENST00000544822 | 10602512 | 10602566 | 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 |
| ENST00000359151 | 10602512 | 10602566 | In-frame |
| ENST00000544822 | 10602512 | 10602566 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KLRC1 |
| 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 |
| ENST00000359151 | 1424 | 233 | 10602512 | 10602566 | 466 | 519 | 94 | 112 |
| ENST00000544822 | 1615 | 233 | 10602512 | 10602566 | 672 | 725 | 94 | 112 |
| 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 |
| ENST00000359151 | 1424 | 233 | 10602512 | 10602566 | 466 | 519 | 94 | 112 |
| ENST00000544822 | 1615 | 233 | 10602512 | 10602566 | 672 | 725 | 94 | 112 |
| 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 |
| P26715 | 94 | 112 | 96 | 113 | Alternative sequence | ID=VSP_003062;Note=In isoform NKG2-B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2007850;Dbxref=PMID:15489334,PMID:2007850 |
| P26715 | 94 | 112 | 96 | 113 | Alternative sequence | ID=VSP_003062;Note=In isoform NKG2-B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2007850;Dbxref=PMID:15489334,PMID:2007850 |
| P26715 | 94 | 112 | 1 | 233 | Chain | ID=PRO_0000046659;Note=NKG2-A/NKG2-B type II integral membrane protein |
| P26715 | 94 | 112 | 1 | 233 | Chain | ID=PRO_0000046659;Note=NKG2-A/NKG2-B type II integral membrane protein |
| P26715 | 94 | 112 | 102 | 102 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 102 | 102 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 103 | 103 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 103 | 103 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 94 | 233 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 94 | 233 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P26715 | 94 | 112 | 96 | 113 | Alternative sequence | ID=VSP_003062;Note=In isoform NKG2-B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2007850;Dbxref=PMID:15489334,PMID:2007850 |
| P26715 | 94 | 112 | 96 | 113 | Alternative sequence | ID=VSP_003062;Note=In isoform NKG2-B. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2007850;Dbxref=PMID:15489334,PMID:2007850 |
| P26715 | 94 | 112 | 1 | 233 | Chain | ID=PRO_0000046659;Note=NKG2-A/NKG2-B type II integral membrane protein |
| P26715 | 94 | 112 | 1 | 233 | Chain | ID=PRO_0000046659;Note=NKG2-A/NKG2-B type II integral membrane protein |
| P26715 | 94 | 112 | 102 | 102 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 102 | 102 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 103 | 103 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 103 | 103 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 94 | 233 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P26715 | 94 | 112 | 94 | 233 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for KLRC1 |
| - 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 |
| BRCA | TCGA-E2-A15M-01 | exon_skip_90047 | 10602513 | 10602566 | 10602545 | 10602545 | Frame_Shift_Del | T | - | p.N102fs |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLRC1 |
| 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 KLRC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLRC1 |
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RelatedDrugs for KLRC1 |
| 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 |
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RelatedDiseases for KLRC1 |
| 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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