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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 NEK5 |
 Gene summary |
| Gene information | Gene symbol | NEK5 | Gene ID | 341676 |
| Gene name | NIMA related kinase 5 | |
| Synonyms | - | |
| Cytomap | 13q14.3 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase Nek5NIMA (never in mitosis gene a)-related kinase 5never in mitosis A-related kinase 5nimA-related protein kinase 5 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6P3R8 | |
| Context | PubMed: NEK5 [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 NEK5 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 NEK5 |
| 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 NEK5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103885 | 13 | 52611215:52611354:52624239:52624357:52635954:52636089 | 52624239:52624357 | ENSG00000197168.7 | ENST00000465811.3 |
| exon_skip_103886 | 13 | 52635954:52636089:52639619:52639745:52646079:52646206 | 52639619:52639745 | ENSG00000197168.7 | ENST00000465811.3 |
| exon_skip_103888 | 13 | 52646079:52646206:52649893:52649962:52650198:52650279 | 52649893:52649962 | ENSG00000197168.7 | ENST00000355568.4 |
| exon_skip_103891 | 13 | 52650198:52650279:52656373:52656448:52657395:52657488 | 52656373:52656448 | ENSG00000197168.7 | ENST00000355568.4 |
| exon_skip_103895 | 13 | 52657395:52657488:52660412:52660499:52661473:52661590 | 52660412:52660499 | ENSG00000197168.7 | ENST00000355568.4 |
| exon_skip_103898 | 13 | 52663382:52663449:52667189:52667371:52673878:52674012 | 52667189:52667371 | ENSG00000197168.7 | ENST00000355568.4 |
| exon_skip_103900 | 13 | 52678633:52678688:52682453:52682540:52684475:52684546 | 52682453:52682540 | ENSG00000197168.7 | ENST00000355568.4,ENST00000465811.3 |
| exon_skip_103901 | 13 | 52684475:52684546:52684629:52684713:52686403:52686501 | 52684629:52684713 | ENSG00000197168.7 | ENST00000355568.4,ENST00000465811.3 |
| exon_skip_103902 | 13 | 52684629:52684713:52686403:52686501:52693454:52693551 | 52686403:52686501 | ENSG00000197168.7 | ENST00000355568.4,ENST00000465811.3 |
| exon_skip_103908 | 13 | 52686403:52686501:52693454:52693551:52701501:52701618 | 52693454:52693551 | ENSG00000197168.7 | ENST00000355568.4,ENST00000465811.3 |
| exon_skip_103914 | 13 | 52701501:52701640:52701730:52701798:52703164:52703214 | 52701730:52701798 | ENSG00000197168.7 | ENST00000355568.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NEK5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103885 | 13 | 52611215:52611354:52624239:52624357:52635954:52636089 | 52624239:52624357 | ENSG00000197168.7 | ENST00000465811.3 |
| exon_skip_103886 | 13 | 52635954:52636089:52639619:52639745:52646079:52646206 | 52639619:52639745 | ENSG00000197168.7 | ENST00000465811.3 |
| exon_skip_103888 | 13 | 52646079:52646206:52649893:52649962:52650198:52650279 | 52649893:52649962 | ENSG00000197168.7 | ENST00000355568.4 |
| exon_skip_103891 | 13 | 52650198:52650279:52656373:52656448:52657395:52657488 | 52656373:52656448 | ENSG00000197168.7 | ENST00000355568.4 |
| exon_skip_103895 | 13 | 52657395:52657488:52660412:52660499:52661473:52661590 | 52660412:52660499 | ENSG00000197168.7 | ENST00000355568.4 |
| exon_skip_103898 | 13 | 52663382:52663449:52667189:52667371:52673878:52674012 | 52667189:52667371 | ENSG00000197168.7 | ENST00000355568.4 |
| exon_skip_103900 | 13 | 52678633:52678688:52682453:52682540:52684475:52684546 | 52682453:52682540 | ENSG00000197168.7 | ENST00000465811.3,ENST00000355568.4 |
| exon_skip_103902 | 13 | 52684629:52684713:52686403:52686501:52693454:52693551 | 52686403:52686501 | ENSG00000197168.7 | ENST00000465811.3,ENST00000355568.4 |
| exon_skip_103908 | 13 | 52686403:52686501:52693454:52693551:52701501:52701618 | 52693454:52693551 | ENSG00000197168.7 | ENST00000465811.3,ENST00000355568.4 |
| exon_skip_103914 | 13 | 52701501:52701640:52701730:52701798:52703164:52703214 | 52701730:52701798 | ENSG00000197168.7 | ENST00000355568.4 |
| 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 NEK5 |
| 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 |
| ENST00000355568 | 52701730 | 52701798 | 3UTR-3UTR |
| ENST00000355568 | 52667189 | 52667371 | Frame-shift |
| ENST00000355568 | 52686403 | 52686501 | Frame-shift |
| ENST00000355568 | 52693454 | 52693551 | Frame-shift |
| ENST00000355568 | 52649893 | 52649962 | In-frame |
| ENST00000355568 | 52656373 | 52656448 | In-frame |
| ENST00000355568 | 52660412 | 52660499 | In-frame |
| ENST00000355568 | 52682453 | 52682540 | In-frame |
| ENST00000355568 | 52684629 | 52684713 | 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 |
| ENST00000355568 | 52701730 | 52701798 | 3UTR-3UTR |
| ENST00000355568 | 52667189 | 52667371 | Frame-shift |
| ENST00000355568 | 52686403 | 52686501 | Frame-shift |
| ENST00000355568 | 52693454 | 52693551 | Frame-shift |
| ENST00000355568 | 52649893 | 52649962 | In-frame |
| ENST00000355568 | 52656373 | 52656448 | In-frame |
| ENST00000355568 | 52660412 | 52660499 | In-frame |
| ENST00000355568 | 52682453 | 52682540 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NEK5 |
| 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 |
| ENST00000355568 | 2935 | 708 | 52684629 | 52684713 | 453 | 536 | 104 | 132 |
| ENST00000355568 | 2935 | 708 | 52682453 | 52682540 | 608 | 694 | 156 | 184 |
| ENST00000355568 | 2935 | 708 | 52660412 | 52660499 | 1533 | 1619 | 464 | 493 |
| ENST00000355568 | 2935 | 708 | 52656373 | 52656448 | 1713 | 1787 | 524 | 549 |
| ENST00000355568 | 2935 | 708 | 52649893 | 52649962 | 1869 | 1937 | 576 | 599 |
| 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 |
| ENST00000355568 | 2935 | 708 | 52682453 | 52682540 | 608 | 694 | 156 | 184 |
| ENST00000355568 | 2935 | 708 | 52660412 | 52660499 | 1533 | 1619 | 464 | 493 |
| ENST00000355568 | 2935 | 708 | 52656373 | 52656448 | 1713 | 1787 | 524 | 549 |
| ENST00000355568 | 2935 | 708 | 52649893 | 52649962 | 1869 | 1937 | 576 | 599 |
| 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 |
| Q6P3R8 | 104 | 132 | 128 | 128 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10027 |
| Q6P3R8 | 104 | 132 | 1 | 708 | Chain | ID=PRO_0000259765;Note=Serine/threonine-protein kinase Nek5 |
| Q6P3R8 | 104 | 132 | 4 | 259 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q6P3R8 | 156 | 184 | 1 | 708 | Chain | ID=PRO_0000259765;Note=Serine/threonine-protein kinase Nek5 |
| Q6P3R8 | 156 | 184 | 4 | 259 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q6P3R8 | 464 | 493 | 1 | 708 | Chain | ID=PRO_0000259765;Note=Serine/threonine-protein kinase Nek5 |
| Q6P3R8 | 524 | 549 | 1 | 708 | Chain | ID=PRO_0000259765;Note=Serine/threonine-protein kinase Nek5 |
| Q6P3R8 | 524 | 549 | 531 | 531 | Natural variant | ID=VAR_040923;Note=C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| Q6P3R8 | 576 | 599 | 1 | 708 | Chain | ID=PRO_0000259765;Note=Serine/threonine-protein kinase Nek5 |
| 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 |
| Q6P3R8 | 156 | 184 | 1 | 708 | Chain | ID=PRO_0000259765;Note=Serine/threonine-protein kinase Nek5 |
| Q6P3R8 | 156 | 184 | 4 | 259 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q6P3R8 | 464 | 493 | 1 | 708 | Chain | ID=PRO_0000259765;Note=Serine/threonine-protein kinase Nek5 |
| Q6P3R8 | 524 | 549 | 1 | 708 | Chain | ID=PRO_0000259765;Note=Serine/threonine-protein kinase Nek5 |
| Q6P3R8 | 524 | 549 | 531 | 531 | Natural variant | ID=VAR_040923;Note=C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17344846;Dbxref=PMID:17344846 |
| Q6P3R8 | 576 | 599 | 1 | 708 | Chain | ID=PRO_0000259765;Note=Serine/threonine-protein kinase Nek5 |
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SNVs in the skipped exons for NEK5 |
| - 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-DD-A39Y-01 | exon_skip_103895 | 52660413 | 52660499 | 52660460 | 52660460 | Frame_Shift_Del | G | - | p.H478fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_103900 | 52682454 | 52682540 | 52682490 | 52682490 | Frame_Shift_Del | G | - | p.P173fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_103900 | 52682454 | 52682540 | 52682490 | 52682490 | Frame_Shift_Del | G | - | p.P173fs |
| SKCM | TCGA-GN-A4U4-06 | exon_skip_103886 | 52639620 | 52639745 | 52639699 | 52639699 | Nonsense_Mutation | C | T | p.W657* |
| SKCM | TCGA-EE-A29Q-06 | exon_skip_103886 | 52639620 | 52639745 | 52639700 | 52639700 | Nonsense_Mutation | C | T | p.W657* |
| SKCM | TCGA-EE-A29Q-06 | exon_skip_103886 | 52639620 | 52639745 | 52639700 | 52639700 | Nonsense_Mutation | C | T | p.W657X |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_103895 | 52660413 | 52660499 | 52660445 | 52660445 | Nonsense_Mutation | C | A | p.E483* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_103895 | 52660413 | 52660499 | 52660491 | 52660491 | Nonsense_Mutation | C | T | p.W467* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_103895 | 52660413 | 52660499 | 52660491 | 52660491 | Nonsense_Mutation | C | T | p.W467X |
| CESC | TCGA-DR-A0ZM-01 | exon_skip_103898 | 52667190 | 52667371 | 52667254 | 52667254 | Nonsense_Mutation | G | A | p.Q382* |
| READ | TCGA-AG-A002-01 | exon_skip_103900 | 52682454 | 52682540 | 52682524 | 52682524 | Nonsense_Mutation | G | A | p.R162X |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_103900 | 52682454 | 52682540 | 52682524 | 52682524 | Nonsense_Mutation | G | A | p.R162* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_103900 | 52682454 | 52682540 | 52682524 | 52682524 | Nonsense_Mutation | G | A | p.R162X |
| - 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 |
| COLO320_LARGE_INTESTINE | 52639620 | 52639745 | 52639658 | 52639658 | Missense_Mutation | A | G | p.V671A |
| CORL105_LUNG | 52639620 | 52639745 | 52639664 | 52639664 | Missense_Mutation | A | G | p.M669T |
| MB1_THYROID | 52639620 | 52639745 | 52639669 | 52639669 | Missense_Mutation | C | G | p.Q667H |
| D458_CENTRAL_NERVOUS_SYSTEM | 52639620 | 52639745 | 52639707 | 52639707 | Missense_Mutation | T | A | p.R655W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52639620 | 52639745 | 52639727 | 52639727 | Missense_Mutation | A | G | p.V648A |
| RF48_STOMACH | 52660413 | 52660499 | 52660415 | 52660415 | Missense_Mutation | C | G | p.E493Q |
| DMS454_LUNG | 52660413 | 52660499 | 52660427 | 52660427 | Missense_Mutation | C | T | p.G489R |
| NCIH810_LUNG | 52660413 | 52660499 | 52660484 | 52660484 | Missense_Mutation | A | T | p.L470I |
| NCIH650_LUNG | 52667190 | 52667371 | 52667288 | 52667288 | Missense_Mutation | C | A | p.R370S |
| MCC13_SKIN | 52667190 | 52667371 | 52667363 | 52667363 | Missense_Mutation | C | T | p.M345I |
| HCC2998_LARGE_INTESTINE | 52684630 | 52684713 | 52684638 | 52684638 | Missense_Mutation | T | G | p.K130Q |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52684630 | 52684713 | 52684640 | 52684640 | Missense_Mutation | A | C | p.I129R |
| HCC2450_LUNG | 52684630 | 52684713 | 52684660 | 52684660 | Missense_Mutation | C | A | p.R122S |
| NCIH1385_LUNG | 52686404 | 52686501 | 52686426 | 52686426 | Missense_Mutation | C | A | p.G97V |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52693455 | 52693551 | 52693484 | 52693484 | Missense_Mutation | T | C | p.N62S |
| SNU1040_LARGE_INTESTINE | 52656374 | 52656448 | 52656419 | 52656419 | Nonsense_Mutation | C | T | p.W534* |
| HEC251_ENDOMETRIUM | 52660413 | 52660499 | 52660445 | 52660445 | Nonsense_Mutation | C | A | p.E483* |
| HEC251_ENDOMETRIUM | 52693455 | 52693551 | 52693533 | 52693533 | Nonsense_Mutation | C | A | p.E46* |
| LOVO_LARGE_INTESTINE | 52682454 | 52682540 | 52682454 | 52682454 | Splice_Site | G | A | p.T185M |
| MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52684630 | 52684713 | 52684631 | 52684631 | Splice_Site | T | C | p.Q132R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NEK5 |
| 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 |
| exon_skip_103914 | 13 | 52701501:52701640:52701730:52701798:52703164:52703214 | 52701730:52701798 | ENST00000355568.4 | UVM | rs1886543 | chr13:52701782 | A/G | 1.65e-05 |
| exon_skip_103914 | 13 | 52701501:52701640:52701730:52701798:52703164:52703214 | 52701730:52701798 | ENST00000355568.4 | UVM | rs1886543 | chr13:52701782 | A/G | 9.21e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NEK5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NEK5 |
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RelatedDrugs for NEK5 |
| 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 |
| Q6P3R8 | DB12010 | Fostamatinib | Serine/threonine-protein kinase Nek5 | small molecule | approved|investigational |
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RelatedDiseases for NEK5 |
| 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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