AutismKB 2.0

Evidence Details for NEK8


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Basic Information Top
Gene Symbol:NEK8 ( JCK,MGC138445,NEK12A,NPHP9 )
Gene Full Name: NIMA (never in mitosis gene a)- related kinase 8
Band: 17q11.1
Quick LinksEntrez ID:284086; OMIM: 609799; Uniprot ID:NEK8_HUMAN; ENSEMBL ID: ENSG00000160602; HGNC ID: 13387
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NEK8|284086|nucleotide
ATGGAGAAGTACGAGCGGATCCGAGTGGTGGGGAGAGGTGCCTTCGGGATTGTGCACCTGTGCCTGCGAAAGGCTGACCAGAAGCTGGTGATCATCAAGCAGATT
CCAGTGGAACAGATGACCAAGGAAGAGCGGCAGGCAGCCCAGAATGAGTGCCAGGTCCTCAAGCTGCTCAACCACCCCAATGTCATTGAGTACTACGAGAACTTC
CTGGAAGACAAAGCCCTTATGATCGCCATGGAATATGCACCAGGCGGCACTCTGGCTGAGTTCATCCAAAAGCGCTGTAATTCCCTGCTGGAGGAGGAGACCATC
CTGCACTTCTTCGTGCAGATCCTGCTTGCACTGCATCATGTGCACACCCACCTCATCCTGCACCGAGACCTCAAGACCCAGAACATCCTGCTTGACAAACACCGC
ATGGTCGTCAAGATCGGTGATTTCGGCATCTCCAAGATCCTTAGCAGCAAGAGCAAGGCCTACACGGTGGTGGGTACCCCATGCTATATCTCCCCTGAGCTGTGT
GAGGGCAAGCCCTACAACCAGAAGAGTGACATCTGGGCCCTGGGCTGTGTCCTCTACGAGCTGGCCAGCCTCAAGAGGGCTTTCGAGGCTGCGAACTTGCCAGCA
CTGGTGCTGAAGATCATGAGTGGCACCTTTGCACCTATCTCTGACCGGTACAGCCCTGAGCTTCGCCAGCTGGTCCTGAGTCTACTCAGCCTGGAGCCTGCCCAG
CGGCCACCACTCAGCCACATCATGGCACAGCCCCTCTGCATCCGTGCCCTCCTCAACCTCCACACCGACGTGGGCAGTGTCCGCATGCGGAGGGCAGAGAAGTCC
GTGGCCCCCAGCAACACAGGGAGCAGGACCACCAGTGTCCGCTGCAGAGGTATCCCCCGGGGACCTGTGAGGCCAGCCATCCCACCACCACTGTCGTCAGTGTAT
GCCTGGGGTGGTGGGCTGGGCACCCCCCTGCGGCTGCCAATGCTCAACACAGAGGTGGTCCAGGTGGCAGCTGGGCGCACGCAGAAAGCCGGCGTCACGCGCTCT
GGGCGTCTCATCCTGTGGGAGGCCCCACCCCTAGGTGCAGGCGGAGGCAGTCTCCTTCCTGGGGCAGTGGAGCAGCCACAGCCCCAGTTCATCTCGCGTTTCCTG
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>NEK8|284086|protein
MEKYERIRVVGRGAFGIVHLCLRKADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIEYYENFLEDKALMIAMEYAPGGTLAEFIQKRCNSLLEEETI
LHFFVQILLALHHVHTHLILHRDLKTQNILLDKHRMVVKIGDFGISKILSSKSKAYTVVGTPCYISPELCEGKPYNQKSDIWALGCVLYELASLKRAFEAANLPA
LVLKIMSGTFAPISDRYSPELRQLVLSLLSLEPAQRPPLSHIMAQPLCIRALLNLHTDVGSVRMRRAEKSVAPSNTGSRTTSVRCRGIPRGPVRPAIPPPLSSVY
AWGGGLGTPLRLPMLNTEVVQVAAGRTQKAGVTRSGRLILWEAPPLGAGGGSLLPGAVEQPQPQFISRFLEGQSGVTIKHVACGDFFTACLTDRGIIMTFGSGSN
GCLGHGSLTDISQPTIVEALLGYEMVQVACGASHVLALSTERELFAWGRGDSGRLGLGTRESHSCPQQVPMPPGQEAQRVVCGIDSSMILTVPGQALACGSNRFN
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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) 0 (0) 2 (6) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top