AutismKB 2.0

Evidence Details for KLHL17


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Basic Information Top
Gene Symbol:KLHL17 ( RP11-54O7.6 )
Gene Full Name: kelch-like 17 (Drosophila)
Band: 1p36.33
Quick LinksEntrez ID:339451; OMIM: NA; Uniprot ID:KLH17_HUMAN; ENSEMBL ID: ENSG00000187961; HGNC ID: 24023
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KLHL17|339451|nucleotide
ATGCAGCCCCGCAGCGAGCGCCCGGCCGGCAGGACGCAGAGCCCGGAGCACGGCAGCCCGGGGCCCGGGCCCGAGGCGCCGCCGCCTCCACCGCCGCAGCCGCCG
GCCCCCGAGGCAGAGCGCACGCGGCCCCGGCAGGCTCGGCCCGCAGCCCCCATGGAGGGAGCCGTGCAGCTGCTGAGCCGCGAGGGCCACAGCGTGGCCCACAAC
TCCAAGCGGCACTACCACGATGCCTTCGTGGCCATGAGCCGCATGCGCCAGCGCGGCCTCCTGTGCGACATCGTCCTGCACGTGGCTGCCAAGGAGATCCGTGCG
CACAAAGTGGTGCTGGCCTCCTGCAGCCCCTACTTCCACGCCATGTTCACAAATGAGATGAGCGAGAGCCGCCAGACCCACGTGACGCTGCACGACATCGACCCT
CAGGCCTTGGACCAGCTGGTGCAGTTTGCCTACACGGCTGAGATTGTGGTGGGCGAGGGCAATGTGCAGACTCTGCTCCCAGCCGCCAGTCTCCTGCAGCTGAAT
GGCGTCCGAGACGCTTGCTGCAAGTTTCTACTGAGTCAGCTCGACCCCTCCAACTGCCTGGGTATCCGGGGCTTTGCCGATGCGCACTCCTGCAGCGACCTGCTC
AAGGCCGCCCACAGGTACGTGCTGCAGCACTTCGTGGACGTGGCCAAGACCGAGGAGTTTATGCTGCTGCCCCTGAAACAGGTTCTGGAACTGGTCTCTAGCGAC
AGCCTGAACGTGCCTTCAGAGGAGGAGGTCTACCGAGCCGTCCTGAGCTGGGTGAAACACGACGTGGACGCCCGCAGGCAGCATGTCCCACGGCTCATGAAGTGT
GTGCGGCTGCCCTTGCTGAGCCGCGACTTCCTGCTGGGCCACGTGGATGCCGAGAGCCTGGTGAGGCACCACCCTGACTGCAAGGACCTCCTCATCGAGGCCCTG
AAGTTCCACCTGCTGCCTGAGCAGAGGGGCGTCCTAGGCACCAGCCGCACACGTCCCCGGCGCTGCGAGGGGGCCGGGCCTGTGCTTTTTGCTGTGGGCGGCGGG
AGCCTGTTTGCCATCCACGGAGACTGTGAGGCCTACGACACGCGCACCGACCGCTGGCACGTGGTGGCCTCCATGTCCACGCGCCGGGCCCGGGTGGGAGTGGCT
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>KLHL17|339451|protein
MQPRSERPAGRTQSPEHGSPGPGPEAPPPPPPQPPAPEAERTRPRQARPAAPMEGAVQLLSREGHSVAHNSKRHYHDAFVAMSRMRQRGLLCDIVLHVAAKEIRA
HKVVLASCSPYFHAMFTNEMSESRQTHVTLHDIDPQALDQLVQFAYTAEIVVGEGNVQTLLPAASLLQLNGVRDACCKFLLSQLDPSNCLGIRGFADAHSCSDLL
KAAHRYVLQHFVDVAKTEEFMLLPLKQVLELVSSDSLNVPSEEEVYRAVLSWVKHDVDARRQHVPRLMKCVRLPLLSRDFLLGHVDAESLVRHHPDCKDLLIEAL
KFHLLPEQRGVLGTSRTRPRRCEGAGPVLFAVGGGSLFAIHGDCEAYDTRTDRWHVVASMSTRRARVGVAAVGNRLYAVGGYDGTSDLATVESYDPVTNTWQPEV
SMGTRRSCLGVAALHGLLYSAGGYDGASCLNSAERYDPLTGTWTSVAAMSTRRRYVRVATLDGNLYAVGGYDSSSHLATVEKYEPQVNVWSPVASMLSRRSSAGV
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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 (4) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (6)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top