AutismKB 2.0

Evidence Details for CHKA


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Basic Information Top
Gene Symbol:CHKA ( CHK,CK,CKI,EK )
Gene Full Name: choline kinase alpha
Band: 11q13.2
Quick LinksEntrez ID:1119; OMIM: 118491; Uniprot ID:CHKA_HUMAN; ENSEMBL ID: ENSG00000110721; HGNC ID: 1937
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHKA|1119|nucleotide
ATGAAAACCAAATTCTGCACCGGGGGCGAGGCGGAGCCCTCGCCGCTCGGGCTGCTGCTGAGCTGCGGTAGCGGCAGCGCGGCCCCGGCGCCCGGCGTGGGGCAG
CAGCGCGACGCCGCCAGCGACCTCGAGTCCAAGCAGCTGGGCGGCCAACAGCCGCCGCTCGCGCTGCCCCCTCCGCCGCCGCTGCCGCTGCCGCTGCCGCTGCCC
CAGCCCCCGCCGCCGCAGCCGCCCGCAGACGAGCAGCCGGAGCCCCGGACGCGGCGCAGGGCCTATCTGTGGTGCAAGGAGTTCCTGCCCGGCGCCTGGCGGGGC
CTCCGCGAGGACGAGTTCCACATCAGTGTCATCAGAGGCGGCCTTAGCAACATGCTGTTCCAGTGCTCCCTACCTGACACCACAGCCACCCTTGGTGATGAGCCT
CGGAAAGTGCTCCTGCGGCTGTATGGAGCGATTTTGCAGATGAGGTCCTGTAATAAAGAGGGATCCGAACAAGCTCAGAAAGAAAATGAATTTCAAGGGGCTGAG
GCCATGGTTCTGGAGAGCGTTATGTTTGCCATTCTCGCAGAGAGGTCACTTGGGCCAAAACTCTATGGCATCTTTCCCCAAGGCCGACTGGAGCAGTTCATCCCG
AGCCGGCGATTAGATACTGAAGAATTAAGTTTGCCAGATATTTCTGCAGAAATCGCCGAGAAAATGGCTACATTTCATGGTATGAAAATGCCATTCAATAAGGAA
CCAAAATGGCTTTTTGGCACAATGGAAAAGTATCTAAAGGAAGTGCTGAGAATTAAATTTACTGAGGAATCCAGAATTAAAAAGCTCCACAAATTGCTCAGTTAC
AATCTGCCCTTGGAACTGGAAAACCTGAGATCATTGCTTGAATCTACTCCATCTCCAGTTGTATTTTGTCATAATGACTGTCAAGAAGGTAATATCTTGTTGCTG
GAAGGCCGAGAGAATTCTGAAAAACAGAAACTGATGCTCATTGATTTCGAATACAGCAGTTACAATTACAGGGGATTCGACATTGGAAATCACTTCTGTGAGTGG
ATGTATGATTATAGCTATGAAAAATACCCTTTTTTCAGAGCAAACATCCGGAAGTATCCCACCAAGAAACAACAGCTCCATTTTATTTCCAGTTACTTGCCTGCA
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>CHKA|1119|protein
MKTKFCTGGEAEPSPLGLLLSCGSGSAAPAPGVGQQRDAASDLESKQLGGQQPPLALPPPPPLPLPLPLPQPPPPQPPADEQPEPRTRRRAYLWCKEFLPGAWRG
LREDEFHISVIRGGLSNMLFQCSLPDTTATLGDEPRKVLLRLYGAILQMRSCNKEGSEQAQKENEFQGAEAMVLESVMFAILAERSLGPKLYGIFPQGRLEQFIP
SRRLDTEELSLPDISAEIAEKMATFHGMKMPFNKEPKWLFGTMEKYLKEVLRIKFTEESRIKKLHKLLSYNLPLELENLRSLLESTPSPVVFCHNDCQEGNILLL
EGRENSEKQKLMLIDFEYSSYNYRGFDIGNHFCEWMYDYSYEKYPFFRANIRKYPTKKQQLHFISSYLPAFQNDFENLSTEEKSIIKEEMLLEVNRFALASHFLW
GLWSIVQAKISSIEFGYMDYAQARFDAYFHQKRKLGV
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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 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018