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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 KLRD1 |
 Gene summary |
| Gene information | Gene symbol | KLRD1 | Gene ID | 3824 |
| Gene name | killer cell lectin like receptor D1 | |
| Synonyms | CD94 | |
| Cytomap | 12p13.2 | |
| Type of gene | protein-coding | |
| Description | natural killer cells antigen CD94CD94 antigenKP43NK cell receptorkiller cell lectin-like receptor subfamily D, member 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q13241 | |
| Context | PubMed: KLRD1 [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 |
| KLRD1 | GO:0002228 | natural killer cell mediated immunity | 18448674 |
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Exon skipping events across known transcript of Ensembl for KLRD1 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 KLRD1 |
| 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 KLRD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80247 | 12 | 10378664:10378832:10457064:10457146:10460576:10460683 | 10457064:10457146 | ENSG00000134539.12 | ENST00000540271.1 |
| exon_skip_80248 | 12 | 10460648:10460683:10461986:10462079:10462224:10462287 | 10461986:10462079 | ENSG00000134539.12 | ENST00000336164.4,ENST00000543420.1,ENST00000344825.6,ENST00000381907.4,ENST00000539374.1,ENST00000381908.3 |
| exon_skip_80250 | 12 | 10462224:10462287:10464062:10464214:10466005:10466112 | 10464062:10464214 | ENSG00000134539.12 | ENST00000381908.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KLRD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80247 | 12 | 10378664:10378832:10457064:10457146:10460576:10460683 | 10457064:10457146 | ENSG00000134539.12 | ENST00000540271.1 |
| exon_skip_80248 | 12 | 10460648:10460683:10461986:10462079:10462224:10462287 | 10461986:10462079 | ENSG00000134539.12 | ENST00000381907.4,ENST00000381908.3,ENST00000336164.4,ENST00000543420.1,ENST00000344825.6,ENST00000539374.1 |
| exon_skip_80250 | 12 | 10462224:10462287:10464062:10464214:10466005:10466112 | 10464062:10464214 | ENSG00000134539.12 | ENST00000381908.3 |
| 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 KLRD1 |
| 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 |
| ENST00000381908 | 10464062 | 10464214 | Frame-shift |
| ENST00000336164 | 10461986 | 10462079 | In-frame |
| ENST00000381908 | 10461986 | 10462079 | 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 |
| ENST00000381908 | 10464062 | 10464214 | Frame-shift |
| ENST00000336164 | 10461986 | 10462079 | In-frame |
| ENST00000381908 | 10461986 | 10462079 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KLRD1 |
| 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 |
| ENST00000336164 | 3275 | 179 | 10461986 | 10462079 | 268 | 360 | 2 | 33 |
| ENST00000381908 | 3278 | 179 | 10461986 | 10462079 | 268 | 360 | 2 | 33 |
| 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 |
| ENST00000336164 | 3275 | 179 | 10461986 | 10462079 | 268 | 360 | 2 | 33 |
| ENST00000381908 | 3278 | 179 | 10461986 | 10462079 | 268 | 360 | 2 | 33 |
| 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 |
| Q13241 | 2 | 33 | 1 | 34 | Alternative sequence | ID=VSP_003052;Note=In isoform 3. MAVFKTTLWRLISGTLGIICLSLMSTLGILLKNS->MAA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9601951;Dbxref=PMID:9601951 |
| Q13241 | 2 | 33 | 1 | 34 | Alternative sequence | ID=VSP_003052;Note=In isoform 3. MAVFKTTLWRLISGTLGIICLSLMSTLGILLKNS->MAA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9601951;Dbxref=PMID:9601951 |
| Q13241 | 2 | 33 | 1 | 179 | Chain | ID=PRO_0000046587;Note=Natural killer cells antigen CD94 |
| Q13241 | 2 | 33 | 1 | 179 | Chain | ID=PRO_0000046587;Note=Natural killer cells antigen CD94 |
| Q13241 | 2 | 33 | 25 | 25 | Natural variant | ID=VAR_050103;Note=S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7589107,ECO:0000269|PubMed:9472066;Dbxref=dbSNP:rs10772256,PMID:15489334,PMID:7589107,PMID:9472066 |
| Q13241 | 2 | 33 | 25 | 25 | Natural variant | ID=VAR_050103;Note=S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7589107,ECO:0000269|PubMed:9472066;Dbxref=dbSNP:rs10772256,PMID:15489334,PMID:7589107,PMID:9472066 |
| Q13241 | 2 | 33 | 1 | 10 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 1 | 10 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 32 | 179 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 32 | 179 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 11 | 31 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 11 | 31 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;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 |
| Q13241 | 2 | 33 | 1 | 34 | Alternative sequence | ID=VSP_003052;Note=In isoform 3. MAVFKTTLWRLISGTLGIICLSLMSTLGILLKNS->MAA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9601951;Dbxref=PMID:9601951 |
| Q13241 | 2 | 33 | 1 | 34 | Alternative sequence | ID=VSP_003052;Note=In isoform 3. MAVFKTTLWRLISGTLGIICLSLMSTLGILLKNS->MAA;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9601951;Dbxref=PMID:9601951 |
| Q13241 | 2 | 33 | 1 | 179 | Chain | ID=PRO_0000046587;Note=Natural killer cells antigen CD94 |
| Q13241 | 2 | 33 | 1 | 179 | Chain | ID=PRO_0000046587;Note=Natural killer cells antigen CD94 |
| Q13241 | 2 | 33 | 25 | 25 | Natural variant | ID=VAR_050103;Note=S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7589107,ECO:0000269|PubMed:9472066;Dbxref=dbSNP:rs10772256,PMID:15489334,PMID:7589107,PMID:9472066 |
| Q13241 | 2 | 33 | 25 | 25 | Natural variant | ID=VAR_050103;Note=S->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15489334,ECO:0000269|PubMed:7589107,ECO:0000269|PubMed:9472066;Dbxref=dbSNP:rs10772256,PMID:15489334,PMID:7589107,PMID:9472066 |
| Q13241 | 2 | 33 | 1 | 10 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 1 | 10 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 32 | 179 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 32 | 179 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 11 | 31 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13241 | 2 | 33 | 11 | 31 | Transmembrane | Note=Helical%3B Signal-anchor for type II membrane protein;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for KLRD1 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_80250 | 10464063 | 10464214 | 10464087 | 10464087 | Frame_Shift_Del | A | - | p.E63fs |
| COAD | TCGA-CK-5916-01 | exon_skip_80250 | 10464063 | 10464214 | 10464086 | 10464087 | Frame_Shift_Ins | - | A | p.E63fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_80250 | 10464063 | 10464214 | 10464194 | 10464195 | Frame_Shift_Ins | - | T | p.S99fs |
| PCPG | TCGA-QR-A70K-01 | exon_skip_80248 | 10461987 | 10462079 | 10462061 | 10462061 | Nonsense_Mutation | G | T | p.G28* |
| PCPG | TCGA-QR-A70K-01 | exon_skip_80248 | 10461987 | 10462079 | 10462061 | 10462061 | Nonsense_Mutation | G | T | p.G28X |
| CESC | TCGA-C5-A1BQ-01 | exon_skip_80250 | 10464063 | 10464214 | 10464197 | 10464197 | Nonsense_Mutation | C | T | p.Q100* |
| - 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 |
| SW900_LUNG | 10461987 | 10462079 | 10462029 | 10462030 | Missense_Mutation | GG | AA | p.G17E |
| RERFLCFM_LUNG | 10464063 | 10464214 | 10464129 | 10464129 | Missense_Mutation | G | T | p.S77I |
| NCIH1930_LUNG | 10464063 | 10464214 | 10464180 | 10464180 | Missense_Mutation | C | G | p.S94C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KLRD1 |
| 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 KLRD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KLRD1 |
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RelatedDrugs for KLRD1 |
| 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 KLRD1 |
| 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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