AutismKB 2.0

Evidence Details for NEK3


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Basic Information Top
Gene Symbol:NEK3 ( HSPK36,MGC29949 )
Gene Full Name: NIMA (never in mitosis gene a)-related kinase 3
Band: 13q14.3
Quick LinksEntrez ID:4752; OMIM: 604044; Uniprot ID:NEK3_HUMAN; ENSEMBL ID: ENSG00000136098; HGNC ID: 7746
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NEK3|4752|nucleotide
ATGGATGACTACATGGTCCTGAGAATGATTGGGGAGGGCTCCTTCGGCAGAGCTCTTTTGGTTCAGCATGAAAGCAGTAATCAGATGTTTGCCATGAAAGAAATA
AGGCTTCCCAAGTCTTTCTCTAATACACAGAATTCTAGGAAGGAGGCTGTTCTTTTAGCCAAAATGAAACACCCTAATATTGTTGCCTTCAAAGAATCATTTGAA
GCTGAAGGACACTTGTATATTGTGATGGAATACTGTGATGGAGGGGATCTAATGCAAAAGATTAAACAGCAGAAAGGAAAGTTATTTCCTGAAGACATGATACTT
AATTGGTTTACCCAAATGTGCCTTGGAGTAAATCACATTCACAAGAAACGTGTGCTACACAGAGATATCAAGTCCAAGAATATCTTCCTCACTCAGAATGGAAAA
GTGAAATTGGGAGACTTTGGATCTGCCCGTCTTCTCTCCAATCCGATGGCATTTGCTTGTACCTATGTGGGAACTCCTTATTATGTGCCTCCAGAAATTTGGGAA
AACCTGCCTTATAACAATAAAAGTGACATCTGGTCCTTGGGTTGCATCCTGTATGAACTCTGTACCCTTAAGCATCCATTTCAGGCAAATAGTTGGAAAAATCTT
ATCCTCAAAGTATGTCAAGGGTGCATCAGTCCACTGCCGTCTCATTACTCCTATGAACTTCAGTTCCTAGTCAAGCAGATGTTTAAAAGGAATCCCTCACATCGC
CCCTCGGCTACAACGCTTCTCTCTCGAGGCATCGTAGCTCGGCTTGTCCAGAAGTGCTTACCCCCCGAGATCATCATGGAATATGGTGAGGAAGTATTAGAAGAA
ATAAAAAATTCGAAGCATAACACACCAAGAAAAAAACAAGAGGAAGAACAAGATAGAAAGGGTAGCCATACTGATTTGGAAAGCATTAATGAAAATTTAGTTGAA
AGTGCATTGAGAAGAGTAAACAGAGAAGAAAAAGGTAATAAGTCAGTCCATCTGAGGAAAGCCAGTTCACCAAATCTTCATAGACGACAGTGGGAGAAAAATGTA
CCCAATACAGCTCTTACAGCTTTGGAAAATGCATCCATACTCACCTCCAGTTTAACAGCAGAGGACGATAGAGGTGGTTCTGTAATAAAGTACAGCAAAAATACT
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>NEK3|4752|protein
MDDYMVLRMIGEGSFGRALLVQHESSNQMFAMKEIRLPKSFSNTQNSRKEAVLLAKMKHPNIVAFKESFEAEGHLYIVMEYCDGGDLMQKIKQQKGKLFPEDMIL
NWFTQMCLGVNHIHKKRVLHRDIKSKNIFLTQNGKVKLGDFGSARLLSNPMAFACTYVGTPYYVPPEIWENLPYNNKSDIWSLGCILYELCTLKHPFQANSWKNL
ILKVCQGCISPLPSHYSYELQFLVKQMFKRNPSHRPSATTLLSRGIVARLVQKCLPPEIIMEYGEEVLEEIKNSKHNTPRKKQEEEQDRKGSHTDLESINENLVE
SALRRVNREEKGNKSVHLRKASSPNLHRRQWEKNVPNTALTALENASILTSSLTAEDDRGGSVIKYSKNTTRKQWLKETPDTLLNILKNADLSLAFQTYTIYRPG
SEGFLKGPLSEETEASDSVDGGHDSVILDPERLEPGLDEEDTDFEEEDDNPDWVSELKKRAGWQGLCDR
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Evidence summary Top

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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top