Evidence Details for NRK
Basic Information Top
| Gene Symbol: | NRK ( DKFZp686A17109,FLJ16788,MGC131849,NESK ) |
|---|---|
| Gene Full Name: | Nik related kinase |
| Band: | Xq22.3 |
| Quick Links | Entrez ID:203447; OMIM: 300791; Uniprot ID:NRK_HUMAN; ENSEMBL ID: ENSG00000123572; HGNC ID: 25391 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>NRK|203447|nucleotide
ATGGCGGGACCTGGGGGCTGGAGGGACAGGGAGGTCACGGATCTGGGCCACCTGCCGGATCCAACTGGAATATTCTCACTAGATAAAACCATTGGCCTTGGTACT
TATGGCAGAATCTATTTGGGACTTCATGAGAAGACTGGTGCATTTACAGCTGTTAAAGTGATGAACGCTCGTAAGACCCCTTTACCTGAAATAGGAAGGCGAGTG
AGAGTGAATAAATATCAAAAATCTGTTGGGTGGAGATACAGTGATGAGGAAGAGGATCTCAGGACTGAACTCAACCTTCTGAGGAAGTACTCTTTCCACAAAAAC
ATTGTGTCCTTCTATGGAGCATTTTTCAAGCTGAGTCCCCCTGGTCAGCGGCACCAACTTTGGATGGTGATGGAGTTATGTGCAGCAGGTTCGGTCACTGATGTA
GTGAGAATGACCAGTAATCAGAGTTTAAAAGAAGATTGGATTGCTTATATCTGCCGAGAAATCCTTCAGGGCTTAGCTCACCTTCACGCACACCGAGTAATTCAC
CGGGACATCAAAGGTCAGAATGTGCTGCTGACTCATAATGCTGAAGTAAAACTGGTTGATTTTGGAGTGAGTGCCCAGGTGAGCAGAACTAATGGAAGAAGGAAT
AGTTTCATTGGGACACCATACTGGATGGCACCTGAGGTGATTGACTGTGATGAGGACCCAAGACGCTCCTATGATTACAGAAGTGATGTGTGGTCTGTGGGAATT
ACTGCCATTGAAATGGCTGAAGGAGCCCCTCCTCTGTGTAACCTTCAACCCTTGGAAGCTCTCTTCGTTATTTTGCGGGAATCTGCTCCCACAGTCAAATCCAGC
GGATGGTCCCGTAAGTTCCACAATTTCATGGAAAAGTGTACGATAAAAAATTTCCTGTTTCGTCCTACTTCTGCAAACATGCTTCAACACCCATTTGTTCGGGAT
ATAAAAAATGAACGACATGTTGTTGAGTCATTAACAAGGCATCTTACTGGAATCATTAAAAAAAGACAGAAAAAAGGAATACCTTTGATCTTTGAAAGAGAAGAA
GCTATTAAGGAACAGTACACCGTGAGAAGATTCAGAGGACCCTCTTGCACTCACGAGCTTCTGAGATTGCCAACCAGCAGCAGATGCAGACCACTTAGAGTCCTG
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ATGGCGGGACCTGGGGGCTGGAGGGACAGGGAGGTCACGGATCTGGGCCACCTGCCGGATCCAACTGGAATATTCTCACTAGATAAAACCATTGGCCTTGGTACT
TATGGCAGAATCTATTTGGGACTTCATGAGAAGACTGGTGCATTTACAGCTGTTAAAGTGATGAACGCTCGTAAGACCCCTTTACCTGAAATAGGAAGGCGAGTG
AGAGTGAATAAATATCAAAAATCTGTTGGGTGGAGATACAGTGATGAGGAAGAGGATCTCAGGACTGAACTCAACCTTCTGAGGAAGTACTCTTTCCACAAAAAC
ATTGTGTCCTTCTATGGAGCATTTTTCAAGCTGAGTCCCCCTGGTCAGCGGCACCAACTTTGGATGGTGATGGAGTTATGTGCAGCAGGTTCGGTCACTGATGTA
GTGAGAATGACCAGTAATCAGAGTTTAAAAGAAGATTGGATTGCTTATATCTGCCGAGAAATCCTTCAGGGCTTAGCTCACCTTCACGCACACCGAGTAATTCAC
CGGGACATCAAAGGTCAGAATGTGCTGCTGACTCATAATGCTGAAGTAAAACTGGTTGATTTTGGAGTGAGTGCCCAGGTGAGCAGAACTAATGGAAGAAGGAAT
AGTTTCATTGGGACACCATACTGGATGGCACCTGAGGTGATTGACTGTGATGAGGACCCAAGACGCTCCTATGATTACAGAAGTGATGTGTGGTCTGTGGGAATT
ACTGCCATTGAAATGGCTGAAGGAGCCCCTCCTCTGTGTAACCTTCAACCCTTGGAAGCTCTCTTCGTTATTTTGCGGGAATCTGCTCCCACAGTCAAATCCAGC
GGATGGTCCCGTAAGTTCCACAATTTCATGGAAAAGTGTACGATAAAAAATTTCCTGTTTCGTCCTACTTCTGCAAACATGCTTCAACACCCATTTGTTCGGGAT
ATAAAAAATGAACGACATGTTGTTGAGTCATTAACAAGGCATCTTACTGGAATCATTAAAAAAAGACAGAAAAAAGGAATACCTTTGATCTTTGAAAGAGAAGAA
GCTATTAAGGAACAGTACACCGTGAGAAGATTCAGAGGACCCTCTTGCACTCACGAGCTTCTGAGATTGCCAACCAGCAGCAGATGCAGACCACTTAGAGTCCTG
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>NRK|203447|protein
MAGPGGWRDREVTDLGHLPDPTGIFSLDKTIGLGTYGRIYLGLHEKTGAFTAVKVMNARKTPLPEIGRRVRVNKYQKSVGWRYSDEEEDLRTELNLLRKYSFHKN
IVSFYGAFFKLSPPGQRHQLWMVMELCAAGSVTDVVRMTSNQSLKEDWIAYICREILQGLAHLHAHRVIHRDIKGQNVLLTHNAEVKLVDFGVSAQVSRTNGRRN
SFIGTPYWMAPEVIDCDEDPRRSYDYRSDVWSVGITAIEMAEGAPPLCNLQPLEALFVILRESAPTVKSSGWSRKFHNFMEKCTIKNFLFRPTSANMLQHPFVRD
IKNERHVVESLTRHLTGIIKKRQKKGIPLIFEREEAIKEQYTVRRFRGPSCTHELLRLPTSSRCRPLRVLHGEPSQPRWLPDREEPQVQALQQLQGAARVFMPLQ
ALDSAPKPLKGQAQAPQRLQGAARVFMPLQAQVKAKASKPLQMQIKAPPRLRRAARVLMPLQAQVRAPRLLQVQSQVSKKQQAQTQTSEPQDLDQVPEEFQGQDQ
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MAGPGGWRDREVTDLGHLPDPTGIFSLDKTIGLGTYGRIYLGLHEKTGAFTAVKVMNARKTPLPEIGRRVRVNKYQKSVGWRYSDEEEDLRTELNLLRKYSFHKN
IVSFYGAFFKLSPPGQRHQLWMVMELCAAGSVTDVVRMTSNQSLKEDWIAYICREILQGLAHLHAHRVIHRDIKGQNVLLTHNAEVKLVDFGVSAQVSRTNGRRN
SFIGTPYWMAPEVIDCDEDPRRSYDYRSDVWSVGITAIEMAEGAPPLCNLQPLEALFVILRESAPTVKSSGWSRKFHNFMEKCTIKNFLFRPTSANMLQHPFVRD
IKNERHVVESLTRHLTGIIKKRQKKGIPLIFEREEAIKEQYTVRRFRGPSCTHELLRLPTSSRCRPLRVLHGEPSQPRWLPDREEPQVQALQQLQGAARVFMPLQ
ALDSAPKPLKGQAQAPQRLQGAARVFMPLQAQVKAKASKPLQMQIKAPPRLRRAARVLMPLQAQVRAPRLLQVQSQVSKKQQAQTQTSEPQDLDQVPEEFQGQDQ
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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