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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for KIR2DL4 |
Gene summary |
Gene information | Gene symbol | KIR2DL4 | Gene ID | 3805 |
Gene name | killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4 | |
Synonyms | CD158D|G9P|KIR-103AS|KIR-2DL4|KIR103|KIR103AS | |
Cytomap | 19q13.42 | |
Type of gene | protein-coding | |
Description | killer cell immunoglobulin-like receptor 2DL4CD158 antigen-like family member DKIR2DL4 Killer-cell Immunoglobulin-like ReceptorMHC class I NK cell receptor KIR103ASkiller cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4killer | |
Modification date | 20180519 | |
UniProtAcc | Q99706 | |
Context | PubMed: KIR2DL4 [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 KIR2DL4 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 KIR2DL4 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for KIR2DL4 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_311530 | 19 | 55315345:55315381:55316247:55316532:55317405:55317699 | 55316247:55316532 | ENSG00000189013.10 | ENST00000486965.2,ENST00000396284.2,ENST00000463062.1,ENST00000396289.5,ENST00000345540.5,ENST00000357494.4,ENST00000359085.4 |
exon_skip_311531 | 19 | 55317405:55317699:55320287:55320338:55324579:55324683 | 55320287:55320338 | ENSG00000189013.10 | ENST00000396284.2,ENST00000396289.5,ENST00000359085.4 |
exon_skip_311532 | 19 | 55317405:55317699:55320287:55320338:55325144:55325197 | 55320287:55320338 | ENSG00000189013.10 | ENST00000346587.4,ENST00000345540.5 |
exon_skip_311533 | 19 | 55317405:55317699:55324579:55324683:55325144:55325197 | 55324579:55324683 | ENSG00000189013.10 | ENST00000463062.1 |
exon_skip_311534 | 19 | 55320287:55320338:55324579:55324683:55325144:55325197 | 55324579:55324683 | ENSG00000189013.10 | ENST00000359085.4 |
exon_skip_311535 | 19 | 55320287:55320338:55324579:55324750:55325144:55325197 | 55324579:55324750 | ENSG00000189013.10 | ENST00000396284.2,ENST00000396289.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIR2DL4 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_311530 | 19 | 55315345:55315381:55316247:55316532:55317405:55317699 | 55316247:55316532 | ENSG00000189013.10 | ENST00000396284.2,ENST00000359085.4,ENST00000486965.2,ENST00000345540.5,ENST00000357494.4,ENST00000463062.1,ENST00000396289.5 |
exon_skip_311531 | 19 | 55317405:55317699:55320287:55320338:55324579:55324683 | 55320287:55320338 | ENSG00000189013.10 | ENST00000396284.2,ENST00000359085.4,ENST00000396289.5 |
exon_skip_311532 | 19 | 55317405:55317699:55320287:55320338:55325144:55325197 | 55320287:55320338 | ENSG00000189013.10 | ENST00000345540.5,ENST00000346587.4 |
exon_skip_311533 | 19 | 55317405:55317699:55324579:55324683:55325144:55325197 | 55324579:55324683 | ENSG00000189013.10 | ENST00000463062.1 |
exon_skip_311534 | 19 | 55320287:55320338:55324579:55324683:55325144:55325197 | 55324579:55324683 | ENSG00000189013.10 | ENST00000359085.4 |
exon_skip_311535 | 19 | 55320287:55320338:55324579:55324750:55325144:55325197 | 55324579:55324750 | ENSG00000189013.10 | ENST00000396284.2,ENST00000396289.5 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for KIR2DL4 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for KIR2DL4 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
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 |
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 |
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 |
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SNVs in the skipped exons for KIR2DL4 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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-DD-A3A0-01 | exon_skip_311530 | 55316248 | 55316532 | 55316370 | 55316370 | Frame_Shift_Del | G | - | p.G65fs |
LIHC | TCGA-G3-A25Y-01 | exon_skip_311534 exon_skip_311533 | 55324580 | 55324683 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
LIHC | TCGA-G3-A25Y-01 | exon_skip_311535 | 55324580 | 55324750 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
PAAD | TCGA-3A-A9I7-01 | exon_skip_311534 exon_skip_311533 | 55324580 | 55324683 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
PAAD | TCGA-3A-A9I7-01 | exon_skip_311535 | 55324580 | 55324750 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
PAAD | TCGA-HZ-8001-01 | exon_skip_311534 exon_skip_311533 | 55324580 | 55324683 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
PAAD | TCGA-HZ-8001-01 | exon_skip_311535 | 55324580 | 55324750 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
PAAD | TCGA-IB-A6UG-01 | exon_skip_311534 exon_skip_311533 | 55324580 | 55324683 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
PAAD | TCGA-IB-A6UG-01 | exon_skip_311535 | 55324580 | 55324750 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
PRAD | TCGA-CH-5769-01 | exon_skip_311534 exon_skip_311533 | 55324580 | 55324683 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
PRAD | TCGA-CH-5769-01 | exon_skip_311535 | 55324580 | 55324750 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
TGCT | TCGA-SB-A6J6-01 | exon_skip_311534 exon_skip_311533 | 55324580 | 55324683 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
TGCT | TCGA-SB-A6J6-01 | exon_skip_311535 | 55324580 | 55324750 | 55324675 | 55324675 | Frame_Shift_Del | A | - | p.K268fs |
STAD | TCGA-BR-8590-01 | exon_skip_311531 exon_skip_311532 | 55320288 | 55320338 | 55320312 | 55320312 | Nonsense_Mutation | C | G | p.S227* |
- 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 KIR2DL4 |
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 KIR2DL4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIR2DL4 |
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RelatedDrugs for KIR2DL4 |
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 KIR2DL4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |