AutismKB 2.0

Evidence Details for KLHL14


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Basic Information Top
Gene Symbol:KLHL14 ( - )
Gene Full Name: kelch-like 14 (Drosophila)
Band: 18q12.1
Quick LinksEntrez ID:57565; OMIM: NA; Uniprot ID:KLH14_HUMAN; ENSEMBL ID: ENSG00000197705; HGNC ID: 29266
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KLHL14|57565|nucleotide
ATGTCCAGATCCGGGGACAGGACCTCCACCTTCGACCCCAGCCACAGCGACAACCTGCTGCACGGCCTCAACCTGCTGTGGAGGAAGCAGCTGTTTTGCGACGTG
ACCCTGACGGCCCAGGGCCAGCAGTTCCATTGCCACAAGGCCGTGCTGGCCTCCTGCTCGCAGTACTTCCGATCGCTCTTCTCCAGCCACCCCCCTCTCGGGGGA
GGGGTCGGCGGCCAGGACGGCCTGGGGGCCCCCAAGGACCAGCAGCAGCCGCCGCAGCAGCAGCCGTCACAGCAGCAGCAGCCGCCGCCGCAGGAGGAGCCCGGG
ACTCCTTCTTCCTCCCCCGACGACAAGCTGCTGACCAGCCCCCGGGCCATCAACAACCTGGTGCTGCAGGGCTGCTCGTCCATCGGGCTGCGCCTGGTGCTCGAG
TACCTCTACACGGCCAACGTGACCCTGTCCCTGGACACGGTGGAGGAGGTGCTGTCGGTCAGCAAGATCCTGCACATCCCCCAGGTCACCAAGCTCTGCGTGCAG
TTCCTCAACGACCAGATCTCGGTGCAGAACTACAAGCAGGTGTGCAAGATCGCCGCGCTGCACGGCCTGGAGGAGACCAAGAAGCTGGCCAACAAGTACCTGGTG
GAGGATGTGCTGCTGCTCAACTTCGAGGAGATGCGCGCCCTGCTGGACTCGCTGCCGCCCCCCGTGGAGTCGGAGCTGGCGCTCTTCCAGATGTCCGTGCTGTGG
CTGGAGCACGACCGCGAGACCCGCATGCAGTATGCGCCTGACCTCATGAAGCGCCTCCGCTTCGCCCTCATCCCGGCCCCGGAGCTGGTGGAGCGGGTCCAGTCA
GTGGATTTCATGCGAACCGACCCGGTCTGCCAGAAGCTGCTGCTGGACGCCATGAACTACCACCTGATGCCCTTCAGGCAGCACTGCAGGCAGAGCCTGGCCAGC
AGAATTCGCTCTAACAAGAAAATGCTGTTATTGGTTGGAGGGCTGCCTCCTGGACCGGACCGGCTCCCCAGCAATTTGGTTCAGTATTACGACGATGAAAAGAAG
ACATGGAAAATACTCACAATTATGCCATACAACAGTGCCCACCACTGCGTTGTGGAGGTGGAAAACTTCTTGTTCGTGTTGGGTGGAGAGGACCAGTGGAATCCG
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>KLHL14|57565|protein
MSRSGDRTSTFDPSHSDNLLHGLNLLWRKQLFCDVTLTAQGQQFHCHKAVLASCSQYFRSLFSSHPPLGGGVGGQDGLGAPKDQQQPPQQQPSQQQQPPPQEEPG
TPSSSPDDKLLTSPRAINNLVLQGCSSIGLRLVLEYLYTANVTLSLDTVEEVLSVSKILHIPQVTKLCVQFLNDQISVQNYKQVCKIAALHGLEETKKLANKYLV
EDVLLLNFEEMRALLDSLPPPVESELALFQMSVLWLEHDRETRMQYAPDLMKRLRFALIPAPELVERVQSVDFMRTDPVCQKLLLDAMNYHLMPFRQHCRQSLAS
RIRSNKKMLLLVGGLPPGPDRLPSNLVQYYDDEKKTWKILTIMPYNSAHHCVVEVENFLFVLGGEDQWNPNGKHSTNFVSRYDPRFNSWIQLPPMQERRASFYAC
RLDKHLYVIGGRNETGYLSSVECYNLETNEWRYVSSLPQPLAAHAGAVHNGKIYISGGVHNGEYVPWLYCYDPVMDVWARKQDMNTKRAIHTLAVMNDRLYAIGG
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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) 1 (1) 0 (0) 0 (0) 2 (3) 0 (0) 0 (1) 0 (0) 22 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Doan RN, 2016 - ---ASD - - - - -
Low Scale Gene Studies Top

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  (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