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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 NEK1 |
 Gene summary |
| Gene information | Gene symbol | NEK1 | Gene ID | 4750 |
| Gene name | NIMA related kinase 1 | |
| Synonyms | ALS24|NY-REN-55|SRPS2|SRPS2A|SRTD6 | |
| Cytomap | 4q33 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase Nek1NIMA (never in mitosis gene a)-related kinase 1never in mitosis A-related kinase 1nimA-related protein kinase 1protein-serine/threonine kinaserenal carcinoma antigen NY-REN-55 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96PY6 | |
| Context | PubMed: NEK1 [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 |
| NEK1 | GO:0006468 | protein phosphorylation | 19158487 |
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Exon skipping events across known transcript of Ensembl for NEK1 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 NEK1 |
| 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 NEK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432989 | 4 | 170354695:170354816:170359233:170359410:170384393:170384546 | 170359233:170359410 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000439128.2 |
| exon_skip_432990 | 4 | 170359233:170359410:170384393:170384546:170398274:170398503 | 170384393:170384546 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000439128.2 |
| exon_skip_432991 | 4 | 170384393:170384546:170398274:170398503:170398582:170398648 | 170398274:170398503 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000439128.2 |
| exon_skip_432996 | 4 | 170398274:170398503:170398582:170398648:170400553:170400685 | 170398582:170398648 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000439128.2 |
| exon_skip_432999 | 4 | 170400553:170400685:170428187:170428283:170428865:170428943 | 170428187:170428283 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000439128.2 |
| exon_skip_433000 | 4 | 170429398:170429482:170429919:170430003:170458959:170459062 | 170429919:170430003 | ENSG00000137601.11 | ENST00000511633.1,ENST00000507142.1 |
| exon_skip_433001 | 4 | 170429398:170429482:170458959:170459062:170477082:170477246 | 170458959:170459062 | ENSG00000137601.11 | ENST00000510533.1,ENST00000512193.1 |
| exon_skip_433003 | 4 | 170458959:170459062:170476870:170477002:170477082:170477186 | 170476870:170477002 | ENSG00000137601.11 | ENST00000507142.1,ENST00000439128.2 |
| exon_skip_433007 | 4 | 170477082:170477246:170482630:170482705:170482837:170482888 | 170482630:170482705 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000509912.1,ENST00000439128.2 |
| exon_skip_433009 | 4 | 170477082:170477246:170482837:170482888:170482982:170483042 | 170482837:170482888 | ENSG00000137601.11 | ENST00000512193.1 |
| exon_skip_433010 | 4 | 170482630:170482705:170482837:170482888:170482982:170483042 | 170482837:170482888 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000509912.1,ENST00000439128.2 |
| exon_skip_433011 | 4 | 170483287:170483347:170498078:170498230:170501992:170502053 | 170498078:170498230 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000509912.1,ENST00000512193.1,ENST00000439128.2 |
| exon_skip_433012 | 4 | 170506499:170506700:170508709:170508764:170509799:170509886 | 170508709:170508764 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000509912.1,ENST00000512193.1,ENST00000439128.2,ENST00000510108.1 |
| exon_skip_433013 | 4 | 170509799:170509886:170510597:170510665:170511876:170511960 | 170510597:170510665 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000509912.1,ENST00000512193.1,ENST00000439128.2,ENST00000510108.1 |
| exon_skip_433014 | 4 | 170511876:170511960:170520250:170520348:170523158:170523255 | 170520250:170520348 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000439128.2 |
| exon_skip_433016 | 4 | 170520250:170520348:170523158:170523255:170523664:170523813 | 170523158:170523255 | ENSG00000137601.11 | ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000439128.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NEK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_432989 | 4 | 170354695:170354816:170359233:170359410:170384393:170384546 | 170359233:170359410 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1 |
| exon_skip_432991 | 4 | 170384393:170384546:170398274:170398503:170398582:170398648 | 170398274:170398503 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1 |
| exon_skip_432996 | 4 | 170398274:170398503:170398582:170398648:170400553:170400685 | 170398582:170398648 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1 |
| exon_skip_432999 | 4 | 170400553:170400685:170428187:170428283:170428865:170428943 | 170428187:170428283 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1 |
| exon_skip_433000 | 4 | 170429398:170429482:170429919:170430003:170458959:170459062 | 170429919:170430003 | ENSG00000137601.11 | ENST00000511633.1,ENST00000507142.1 |
| exon_skip_433001 | 4 | 170429398:170429482:170458959:170459062:170477082:170477246 | 170458959:170459062 | ENSG00000137601.11 | ENST00000510533.1,ENST00000512193.1 |
| exon_skip_433003 | 4 | 170458959:170459062:170476870:170477002:170477082:170477186 | 170476870:170477002 | ENSG00000137601.11 | ENST00000439128.2,ENST00000507142.1 |
| exon_skip_433007 | 4 | 170477082:170477246:170482630:170482705:170482837:170482888 | 170482630:170482705 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000509912.1 |
| exon_skip_433009 | 4 | 170477082:170477246:170482837:170482888:170482982:170483042 | 170482837:170482888 | ENSG00000137601.11 | ENST00000512193.1 |
| exon_skip_433010 | 4 | 170482630:170482705:170482837:170482888:170482982:170483042 | 170482837:170482888 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000509912.1 |
| exon_skip_433011 | 4 | 170483287:170483347:170498078:170498230:170501992:170502053 | 170498078:170498230 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000509912.1 |
| exon_skip_433012 | 4 | 170506499:170506700:170508709:170508764:170509799:170509886 | 170508709:170508764 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000509912.1,ENST00000510108.1 |
| exon_skip_433013 | 4 | 170509799:170509886:170510597:170510665:170511876:170511960 | 170510597:170510665 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1,ENST00000509912.1,ENST00000510108.1 |
| exon_skip_433014 | 4 | 170511876:170511960:170520250:170520348:170523158:170523255 | 170520250:170520348 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1 |
| exon_skip_433016 | 4 | 170520250:170520348:170523158:170523255:170523664:170523813 | 170523158:170523255 | ENSG00000137601.11 | ENST00000439128.2,ENST00000511633.1,ENST00000510533.1,ENST00000507142.1,ENST00000512193.1 |
| 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 NEK1 |
| 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 |
| ENST00000439128 | 170398274 | 170398503 | Frame-shift |
| ENST00000439128 | 170498078 | 170498230 | Frame-shift |
| ENST00000439128 | 170508709 | 170508764 | Frame-shift |
| ENST00000439128 | 170510597 | 170510665 | Frame-shift |
| ENST00000439128 | 170520250 | 170520348 | Frame-shift |
| ENST00000439128 | 170523158 | 170523255 | Frame-shift |
| ENST00000439128 | 170359233 | 170359410 | In-frame |
| ENST00000439128 | 170384393 | 170384546 | In-frame |
| ENST00000439128 | 170398582 | 170398648 | In-frame |
| ENST00000439128 | 170428187 | 170428283 | In-frame |
| ENST00000439128 | 170476870 | 170477002 | In-frame |
| ENST00000439128 | 170482630 | 170482705 | In-frame |
| ENST00000439128 | 170482837 | 170482888 | 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 |
| ENST00000439128 | 170398274 | 170398503 | Frame-shift |
| ENST00000439128 | 170498078 | 170498230 | Frame-shift |
| ENST00000439128 | 170508709 | 170508764 | Frame-shift |
| ENST00000439128 | 170510597 | 170510665 | Frame-shift |
| ENST00000439128 | 170520250 | 170520348 | Frame-shift |
| ENST00000439128 | 170523158 | 170523255 | Frame-shift |
| ENST00000439128 | 170359233 | 170359410 | In-frame |
| ENST00000439128 | 170398582 | 170398648 | In-frame |
| ENST00000439128 | 170428187 | 170428283 | In-frame |
| ENST00000439128 | 170476870 | 170477002 | In-frame |
| ENST00000439128 | 170482630 | 170482705 | In-frame |
| ENST00000439128 | 170482837 | 170482888 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NEK1 |
| 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 |
| ENST00000439128 | 5670 | 1258 | 170482837 | 170482888 | 1782 | 1832 | 380 | 397 |
| ENST00000439128 | 5670 | 1258 | 170482630 | 170482705 | 1833 | 1907 | 397 | 422 |
| ENST00000439128 | 5670 | 1258 | 170476870 | 170477002 | 2072 | 2203 | 477 | 520 |
| ENST00000439128 | 5670 | 1258 | 170428187 | 170428283 | 2469 | 2564 | 609 | 641 |
| ENST00000439128 | 5670 | 1258 | 170398582 | 170398648 | 2697 | 2762 | 685 | 707 |
| ENST00000439128 | 5670 | 1258 | 170384393 | 170384546 | 2992 | 3144 | 783 | 834 |
| ENST00000439128 | 5670 | 1258 | 170359233 | 170359410 | 3145 | 3321 | 834 | 893 |
| 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 |
| ENST00000439128 | 5670 | 1258 | 170482837 | 170482888 | 1782 | 1832 | 380 | 397 |
| ENST00000439128 | 5670 | 1258 | 170482630 | 170482705 | 1833 | 1907 | 397 | 422 |
| ENST00000439128 | 5670 | 1258 | 170476870 | 170477002 | 2072 | 2203 | 477 | 520 |
| ENST00000439128 | 5670 | 1258 | 170428187 | 170428283 | 2469 | 2564 | 609 | 641 |
| ENST00000439128 | 5670 | 1258 | 170398582 | 170398648 | 2697 | 2762 | 685 | 707 |
| ENST00000439128 | 5670 | 1258 | 170359233 | 170359410 | 3145 | 3321 | 834 | 893 |
| 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 NEK1 |
| - 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. |
NEK1_BRCA_exon_skip_433003_psi_boxplot.png |
| - 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 |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_432989 | 170359234 | 170359410 | 170359358 | 170359358 | Frame_Shift_Del | T | - | p.K880fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_432989 | 170359234 | 170359410 | 170359358 | 170359358 | Frame_Shift_Del | T | - | p.K880fs |
| GBM | TCGA-06-5413-01 | exon_skip_432991 | 170398275 | 170398503 | 170398275 | 170398275 | Frame_Shift_Del | T | - | p.R812_splice |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_432991 | 170398275 | 170398503 | 170398444 | 170398444 | Frame_Shift_Del | T | - | p.K727fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_432996 | 170398583 | 170398648 | 170398598 | 170398598 | Frame_Shift_Del | G | - | p.T702fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_433001 | 170458960 | 170459062 | 170459020 | 170459020 | Frame_Shift_Del | T | - | p.E536fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_433001 | 170458960 | 170459062 | 170459056 | 170459056 | Frame_Shift_Del | T | - | p.K523fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_433003 | 170476871 | 170477002 | 170476917 | 170476917 | Frame_Shift_Del | T | - | p.T506fs |
| BRCA | TCGA-BH-A0DH-01 | exon_skip_433003 | 170476871 | 170477002 | 170476976 | 170476976 | Frame_Shift_Del | C | - | p.G486fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_433007 | 170482631 | 170482705 | 170482681 | 170482681 | Frame_Shift_Del | C | - | p.E406fs |
| COAD | TCGA-A6-6653-01 | exon_skip_433011 | 170498079 | 170498230 | 170498088 | 170498088 | Frame_Shift_Del | T | - | p.H338fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_433014 | 170520251 | 170520348 | 170520296 | 170520296 | Frame_Shift_Del | A | - | p.F89fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_432990 | 170384394 | 170384546 | 170384532 | 170384532 | Nonsense_Mutation | C | A | p.E789* |
| READ | TCGA-F5-6814-01 | exon_skip_432999 | 170428188 | 170428283 | 170428250 | 170428250 | Nonsense_Mutation | C | A | p.E577X |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_433001 | 170458960 | 170459062 | 170459007 | 170459007 | Nonsense_Mutation | G | A | p.R540* |
| PRAD | TCGA-HC-A6HX-01 | exon_skip_433007 | 170482631 | 170482705 | 170482702 | 170482702 | Nonsense_Mutation | C | A | p.E399* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_433011 | 170498079 | 170498230 | 170498183 | 170498183 | Nonsense_Mutation | G | A | p.Q306* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_433011 | 170498079 | 170498230 | 170498183 | 170498183 | Nonsense_Mutation | G | A | p.Q306X |
| ESCA | TCGA-LN-A49L-01 | exon_skip_433014 | 170520251 | 170520348 | 170520292 | 170520292 | Nonsense_Mutation | G | A | p.R91* |
| ESCA | TCGA-LN-A49L-01 | exon_skip_433014 | 170520251 | 170520348 | 170520292 | 170520292 | Nonsense_Mutation | G | A | p.R91X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BH-A0DH-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_433003 | |
| Skipped exon start: 170476871 | |
| Skipped exon end: 170477002 | |
| Mutation start: 170476976 | |
| Mutation end: 170476976 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.G486fs | |
exon_skip_351903_BRCA_TCGA-BH-A0DH-01.png | |
exon_skip_433003_BRCA_TCGA-BH-A0DH-01.png | |
| - 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 |
| SNU324_PANCREAS | 170359234 | 170359410 | 170359358 | 170359358 | Frame_Shift_Del | T | - | p.K852fs |
| KM12_LARGE_INTESTINE | 170359234 | 170359410 | 170359358 | 170359358 | Frame_Shift_Del | T | - | p.K852fs |
| 8505C_THYROID | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| ALLSIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| C32_SKIN | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| EW8_BONE | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| HS863T_FIBROBLAST | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| JHUEM2_ENDOMETRIUM | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| KMRC1_KIDNEY | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| LOUCY_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| MDAPCA2B_PROSTATE | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| NCIH660_PROSTATE | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| PANC0504_PANCREAS | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| PRECLH_PROSTATE | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| RKN_SOFT_TISSUE | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| SNU201_CENTRAL_NERVOUS_SYSTEM | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| SNU449_LIVER | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| SNU869_BILIARY_TRACT | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| SW1271_LUNG | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| TEN_ENDOMETRIUM | 170359234 | 170359410 | 170359357 | 170359358 | Frame_Shift_Ins | - | T | p.V853fs |
| HS934T_FIBROBLAST | 170359234 | 170359410 | 170359269 | 170359269 | Missense_Mutation | G | A | p.P882L |
| DOHH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170384394 | 170384546 | 170384432 | 170384432 | Missense_Mutation | A | C | p.L822R |
| CORL95_LUNG | 170384394 | 170384546 | 170384439 | 170384439 | Missense_Mutation | G | T | p.L820I |
| GAK_SKIN | 170398275 | 170398503 | 170398309 | 170398309 | Missense_Mutation | C | G | p.E772D |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170398275 | 170398503 | 170398355 | 170398355 | Missense_Mutation | C | T | p.R757H |
| HEC108_ENDOMETRIUM | 170398275 | 170398503 | 170398358 | 170398358 | Missense_Mutation | T | A | p.D756V |
| HCC2998_LARGE_INTESTINE | 170398275 | 170398503 | 170398361 | 170398361 | Missense_Mutation | G | A | p.S755F |
| HEC6_ENDOMETRIUM | 170398275 | 170398503 | 170398470 | 170398470 | Missense_Mutation | T | C | p.N719D |
| 59M_OVARY | 170398275 | 170398503 | 170398484 | 170398484 | Missense_Mutation | C | T | p.R714H |
| JHUEM7_ENDOMETRIUM | 170428188 | 170428283 | 170428208 | 170428208 | Missense_Mutation | T | G | p.K635Q |
| BPH1_PROSTATE | 170428188 | 170428283 | 170428243 | 170428243 | Missense_Mutation | A | G | p.L623P |
| SNU175_LARGE_INTESTINE | 170458960 | 170459062 | 170459000 | 170459000 | Missense_Mutation | C | T | p.R542Q |
| HCC2450_LUNG | 170458960 | 170459062 | 170459036 | 170459036 | Missense_Mutation | C | G | p.R530T |
| TGBC24TKB_BILIARY_TRACT | 170476871 | 170477002 | 170476983 | 170476983 | Missense_Mutation | G | A | p.R484C |
| DAOY_CENTRAL_NERVOUS_SYSTEM | 170482631 | 170482705 | 170482678 | 170482678 | Missense_Mutation | G | C | p.Q407E |
| JHUEM7_ENDOMETRIUM | 170498079 | 170498230 | 170498116 | 170498116 | Missense_Mutation | T | G | p.K328T |
| RD_SOFT_TISSUE | 170498079 | 170498230 | 170498141 | 170498141 | Missense_Mutation | C | A | p.A320S |
| HEC6_ENDOMETRIUM | 170498079 | 170498230 | 170498149 | 170498149 | Missense_Mutation | A | G | p.I317T |
| HCT15_LARGE_INTESTINE | 170498079 | 170498230 | 170498188 | 170498188 | Missense_Mutation | G | T | p.P304H |
| HRT18_LARGE_INTESTINE | 170498079 | 170498230 | 170498188 | 170498188 | Missense_Mutation | G | T | p.P304H |
| WM983B_SKIN | 170498079 | 170498230 | 170498203 | 170498203 | Missense_Mutation | G | A | p.S299L |
| HCC1954_BREAST | 170498079 | 170498230 | 170498203 | 170498203 | Missense_Mutation | G | A | p.S299L |
| HCC1954_MATCHED_NORMAL_TISSUE | 170498079 | 170498230 | 170498203 | 170498203 | Missense_Mutation | G | A | p.S299L |
| NCIH1437_LUNG | 170498079 | 170498230 | 170498219 | 170498219 | Missense_Mutation | C | G | p.A294P |
| RERFLCSQ1_LUNG | 170508710 | 170508764 | 170508718 | 170508718 | Missense_Mutation | T | C | p.K200E |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170520251 | 170520348 | 170520273 | 170520273 | Missense_Mutation | C | T | p.G97D |
| ESS1_ENDOMETRIUM | 170520251 | 170520348 | 170520291 | 170520291 | Missense_Mutation | C | T | p.R91Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 170523159 | 170523255 | 170523173 | 170523173 | Missense_Mutation | C | T | p.R67K |
| KM12_LARGE_INTESTINE | 170523159 | 170523255 | 170523207 | 170523207 | Missense_Mutation | C | T | p.A56T |
| RERFLCFM_LUNG | 170384394 | 170384546 | 170384424 | 170384424 | Nonsense_Mutation | C | A | p.E825* |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170428188 | 170428283 | 170428196 | 170428196 | Nonsense_Mutation | C | A | p.E639* |
| NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170428188 | 170428283 | 170428211 | 170428211 | Nonsense_Mutation | C | A | p.E634* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NEK1 |
| 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 NEK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NEK1 |
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RelatedDrugs for NEK1 |
| 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 |
| Q96PY6 | DB12010 | Fostamatinib | Serine/threonine-protein kinase Nek1 | small molecule | approved|investigational |
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RelatedDiseases for NEK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| NEK1 | C0002736 | Amyotrophic Lateral Sclerosis | 2 | CTD_human |
| NEK1 | C0036996 | Short Rib-Polydactyly Syndrome | 2 | CTD_human |
| NEK1 | C0024507 | Majewski Syndrome | 1 | ORPHANET;UNIPROT |
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