AutismKB 2.0

Evidence Details for KLHL1


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Basic Information Top
Gene Symbol:KLHL1 ( FLJ30047,KIAA1490,MRP2 )
Gene Full Name: kelch-like 1 (Drosophila)
Band: 13q21.33
Quick LinksEntrez ID:57626; OMIM: 605332; Uniprot ID:KLHL1_HUMAN; ENSEMBL ID: ENSG00000150361; HGNC ID: 6352
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KLHL1|57626|nucleotide
ATGTCAGGCTCTGGGCGAAAAGACTTCGATGTGAAGCACATTCTGCGACTCCGCTGGAAACTCTTCAGCCACCCGTCTCCTTCCACCGGCGGCCCGGCGGGGGGA
GGCTGCCTGCAACAGGACGGCAGTGGCAGCTTTGAGCACTGGGGACCCAGCCAGAGTCGCCTGCTCAAAAGCCAAGAGAGAAGCGGTGTGAGCACTTTCTGGAAG
AAGCCTTCCTCCTCTTCCTCTTCATCGTCCTCCCCGTCCTCTTCCTCCTCTTCCTTCAATCCGCTGAATGGCACCCTGCTTCCAGTTGCCACGAGGCTGCAGCAA
GGGGCTCCTGGGCAGGGCACTCAGCAGCCAGCCAGGACTCTCTTCTACGTGGAGTCACTAGAGGAGGAGGTGGTGCCAGGCATGGACTTTCCTGGACCACACGAA
AAAGGGCTGGTTCTGCAAGAGCTCAAAGTGGAGCCAGACAACTCTAGCCAGGCAACAGGTGAAGGATGTGGACACAGGCTGTCATCAACCGGCCATTCAATGACA
CCTCAAAGTGATTTGGACTCCAGTAGCTCTGAAGAATTCTATCAAGCTGTTCATCATGCTGAGCAAACCTTCAGAAAGATGGAAAGTTATTTGAAGCAGCAGCAA
CTTTGTGATGTTATCCTGATTGTTGGGAACCGAAAGATACCTGCACATAGGCTTGTTCTGAGTTCAGTCTCCGACTATTTTGCGGCCATGTTTACAAGTGATGTT
TGTGAAGCCAAGCAAGAGGAGATCAAAATGGAAGGCATAGACCCCAATGCTCTCTGGGACCTTGTCCAATTTGCATATACAGGCTGCTTGGAATTAAAAGAGGAC
ACCATTGAGAACCTTCTTGCTGCAGCGTGCCTTCTTCAGCTTCCACAGGTGGTGGAAGTGTGCTGCCACTTCCTCATGAAGCTTTTGCATCCATCTAACTGTTTA
GGAATTCGAGCCTTCGCAGATGCTCAAGGATGCATTGAGTTAATGAAGGTGGCCCACAGCTACACAATGGAAAACATAATGGAAGTTATCAGAAATCAAGAGTTT
TTACTCCTTCCAGCTGAGGAGCTCCATAAACTACTGGCCAGTGATGATGTCAATGTTCCTGATGAAGAAACCATCTTCCATGCATTGATGATGTGGGTCAAGTAT
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>KLHL1|57626|protein
MSGSGRKDFDVKHILRLRWKLFSHPSPSTGGPAGGGCLQQDGSGSFEHWGPSQSRLLKSQERSGVSTFWKKPSSSSSSSSSPSSSSSSFNPLNGTLLPVATRLQQ
GAPGQGTQQPARTLFYVESLEEEVVPGMDFPGPHEKGLVLQELKVEPDNSSQATGEGCGHRLSSTGHSMTPQSDLDSSSSEEFYQAVHHAEQTFRKMESYLKQQQ
LCDVILIVGNRKIPAHRLVLSSVSDYFAAMFTSDVCEAKQEEIKMEGIDPNALWDLVQFAYTGCLELKEDTIENLLAAACLLQLPQVVEVCCHFLMKLLHPSNCL
GIRAFADAQGCIELMKVAHSYTMENIMEVIRNQEFLLLPAEELHKLLASDDVNVPDEETIFHALMMWVKYDMQSRCNDLSMLLAFIRLPLLPPQILADLENHALF
KNDLECQKLILEAMKYHLLPERRTLMQSPRTKPRKSTVGTLYAVGGMDNNKGATTIEKYDLRTNLWIQAGMMNGRRLQFGVAVIDDKLFVIGGRDGLKTLNTVEC
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top