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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 NRK |
Gene summary |
Gene information | Gene symbol | NRK | Gene ID | 203447 |
Gene name | Nik related kinase | |
Synonyms | NESK | |
Cytomap | Xq22.3 | |
Type of gene | protein-coding | |
Description | nik-related protein kinase | |
Modification date | 20180523 | |
UniProtAcc | Q7Z2Y5 | |
Context | PubMed: NRK [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 NRK 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 NRK |
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 NRK |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_511709 | X | 105124191:105124248:105125700:105125772:105132286:105132412 | 105125700:105125772 | ENSG00000123572.12 | ENST00000243300.9,ENST00000428173.2,ENST00000536164.1 |
exon_skip_511710 | X | 105137824:105137935:105139425:105139516:105142576:105142707 | 105139425:105139516 | ENSG00000123572.12 | ENST00000243300.9,ENST00000428173.2 |
exon_skip_511711 | X | 105179161:105179317:105181430:105181574:105183865:105184024 | 105181430:105181574 | ENSG00000123572.12 | ENST00000243300.9,ENST00000428173.2 |
exon_skip_511712 | X | 105187932:105188033:105189863:105190007:105190306:105190456 | 105189863:105190007 | ENSG00000123572.12 | ENST00000243300.9,ENST00000428173.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NRK |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_511709 | X | 105124191:105124248:105125700:105125772:105132286:105132412 | 105125700:105125772 | ENSG00000123572.12 | ENST00000243300.9,ENST00000428173.2,ENST00000536164.1 |
exon_skip_511710 | X | 105137824:105137935:105139425:105139516:105142576:105142707 | 105139425:105139516 | ENSG00000123572.12 | ENST00000243300.9,ENST00000428173.2 |
exon_skip_511711 | X | 105179161:105179317:105181430:105181574:105183865:105184024 | 105181430:105181574 | ENSG00000123572.12 | ENST00000243300.9,ENST00000428173.2 |
exon_skip_511712 | X | 105187932:105188033:105189863:105190007:105190306:105190456 | 105189863:105190007 | ENSG00000123572.12 | ENST00000243300.9,ENST00000428173.2 |
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 NRK |
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 |
ENST00000243300 | 105139425 | 105139516 | Frame-shift |
ENST00000243300 | 105125700 | 105125772 | In-frame |
ENST00000243300 | 105181430 | 105181574 | In-frame |
ENST00000243300 | 105189863 | 105190007 | 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 |
ENST00000243300 | 105139425 | 105139516 | Frame-shift |
ENST00000243300 | 105125700 | 105125772 | In-frame |
ENST00000243300 | 105181430 | 105181574 | In-frame |
ENST00000243300 | 105189863 | 105190007 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NRK |
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 |
ENST00000243300 | 8079 | 1582 | 105125700 | 105125772 | 484 | 555 | 60 | 84 |
ENST00000243300 | 8079 | 1582 | 105181430 | 105181574 | 3959 | 4102 | 1218 | 1266 |
ENST00000243300 | 8079 | 1582 | 105189863 | 105190007 | 4363 | 4506 | 1353 | 1401 |
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 |
ENST00000243300 | 8079 | 1582 | 105125700 | 105125772 | 484 | 555 | 60 | 84 |
ENST00000243300 | 8079 | 1582 | 105181430 | 105181574 | 3959 | 4102 | 1218 | 1266 |
ENST00000243300 | 8079 | 1582 | 105189863 | 105190007 | 4363 | 4506 | 1353 | 1401 |
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 |
Q7Z2Y5 | 60 | 84 | 1 | 332 | Alternative sequence | ID=VSP_020654;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q7Z2Y5 | 60 | 84 | 1 | 1582 | Chain | ID=PRO_0000250511;Note=Nik-related protein kinase |
Q7Z2Y5 | 60 | 84 | 25 | 313 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q7Z2Y5 | 1218 | 1266 | 189 | 1582 | Alternative sequence | ID=VSP_020656;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q7Z2Y5 | 1218 | 1266 | 1 | 1582 | Chain | ID=PRO_0000250511;Note=Nik-related protein kinase |
Q7Z2Y5 | 1218 | 1266 | 1209 | 1552 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
Q7Z2Y5 | 1353 | 1401 | 189 | 1582 | Alternative sequence | ID=VSP_020656;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q7Z2Y5 | 1353 | 1401 | 1 | 1582 | Chain | ID=PRO_0000250511;Note=Nik-related protein kinase |
Q7Z2Y5 | 1353 | 1401 | 1209 | 1552 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
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 |
Q7Z2Y5 | 60 | 84 | 1 | 332 | Alternative sequence | ID=VSP_020654;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q7Z2Y5 | 60 | 84 | 1 | 1582 | Chain | ID=PRO_0000250511;Note=Nik-related protein kinase |
Q7Z2Y5 | 60 | 84 | 25 | 313 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q7Z2Y5 | 1218 | 1266 | 189 | 1582 | Alternative sequence | ID=VSP_020656;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q7Z2Y5 | 1218 | 1266 | 1 | 1582 | Chain | ID=PRO_0000250511;Note=Nik-related protein kinase |
Q7Z2Y5 | 1218 | 1266 | 1209 | 1552 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
Q7Z2Y5 | 1353 | 1401 | 189 | 1582 | Alternative sequence | ID=VSP_020656;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q7Z2Y5 | 1353 | 1401 | 1 | 1582 | Chain | ID=PRO_0000250511;Note=Nik-related protein kinase |
Q7Z2Y5 | 1353 | 1401 | 1209 | 1552 | Domain | Note=CNH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00795 |
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SNVs in the skipped exons for NRK |
- 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 |
LUAD | TCGA-95-7944-01 | exon_skip_511709 | 105125701 | 105125772 | 105125740 | 105125740 | Frame_Shift_Del | A | - | p.K74fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_511710 | 105139426 | 105139516 | 105139471 | 105139471 | Frame_Shift_Del | A | - | p.K179fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_511712 | 105189864 | 105190007 | 105189999 | 105189999 | Frame_Shift_Del | A | - | p.K1400fs |
LUAD | TCGA-55-8094-01 | exon_skip_511711 | 105181431 | 105181574 | 105181572 | 105181572 | Nonsense_Mutation | C | G | p.S1267* |
UCEC | TCGA-AX-A06H-01 | exon_skip_511709 | 105125701 | 105125772 | 105125773 | 105125773 | Splice_Site | G | A | e4+1 |
UCEC | TCGA-AX-A06H-01 | exon_skip_511709 | 105125701 | 105125772 | 105125773 | 105125773 | Splice_Site | G | A | p.S84_splice |
- 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 |
CW2_LARGE_INTESTINE | 105139426 | 105139516 | 105139509 | 105139509 | Frame_Shift_Del | A | - | p.V191fs |
NCIH1930_LUNG | 105125701 | 105125772 | 105125723 | 105125723 | Missense_Mutation | G | T | p.R68M |
GP5D_LARGE_INTESTINE | 105139426 | 105139516 | 105139454 | 105139454 | Missense_Mutation | T | C | p.V173A |
NCIH358_LUNG | 105181431 | 105181574 | 105181518 | 105181518 | Missense_Mutation | G | C | p.R1248T |
COLO679_SKIN | 105181431 | 105181574 | 105181525 | 105181526 | Missense_Mutation | CC | TT | p.R1251C |
RERFLCFM_LUNG | 105181431 | 105181574 | 105181530 | 105181530 | Missense_Mutation | A | G | p.Q1252R |
SW684_SOFT_TISSUE | 105189864 | 105190007 | 105189873 | 105189873 | Missense_Mutation | G | A | p.D1357N |
KYSE270_OESOPHAGUS | 105189864 | 105190007 | 105189907 | 105189907 | Missense_Mutation | C | T | p.S1368F |
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105189864 | 105190007 | 105189912 | 105189912 | Missense_Mutation | C | G | p.Q1370E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NRK |
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 NRK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NRK |
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RelatedDrugs for NRK |
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 NRK |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |