AutismKB 2.0

Evidence Details for NLRP6


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Basic Information Top
Gene Symbol:NLRP6 ( CLR11.4,NALP6,PAN3,PYPAF5 )
Gene Full Name: NLR family, pyrin domain containing 6
Band: 11p15.5
Quick LinksEntrez ID:171389; OMIM: 609650; Uniprot ID:NALP6_HUMAN; ENSEMBL ID: ENSG00000174885; HGNC ID: 22944
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLRP6|171389|nucleotide
ATGGACCAGCCAGAGGCCCCCTGCTCCAGCACGGGGCCGCGCCTCGCGGTGGCCCGCGAGCTGCTCCTGGCTGCGCTGGAGGAACTGAGCCAAGAGCAGCTGAAG
CGCTTCCGCCACAAGCTGCGCGACGTGGGCCCGGACGGACGCAGCATCCCGTGGGGGCGGCTGGAGCGCGCGGACGCCGTGGACCTCGCGGAGCAGCTGGCCCAG
TTCTACGGCCCGGAGCCTGCCCTGGAGGTGGCCCGCAAGACCCTCAAGAGGGCGGACGCGCGCGACGTGGCGGCGCAGCTCCAGGAGCGGCGGCTGCAGCGGCTC
GGGCTCGGCTCCGGGACGCTGCTCTCCGTGTCCGAGTACAAGAAGAAGTACCGGGAGCACGTGCTGCAGCTGCACGCTCGGGTGAAGGAGAGGAACGCCCGCTCC
GTGAAGATCACCAAGCGCTTCACCAAGCTGCTCATCGCGCCCGAGAGCGCCGCCCCGGAGGAGGCGCTGGGGCCCGCGGAAGAGCCTGAGCCGGGGCGCGCGCGG
CGCTCGGACACGCACACTTTCAACCGCCTCTTCCGCCGCGACGAGGAGGGCCGGCGGCCGCTGACCGTGGTGCTGCAGGGCCCGGCGGGCATCGGCAAGACCATG
GCGGCCAAAAAGATCCTGTACGACTGGGCGGCGGGCAAGCTGTACCAGGGCCAGGTGGACTTCGCCTTCTTCATGCCCTGCGGCGAGCTGCTGGAGAGGCCGGGC
ACGCGCAGCCTGGCTGACCTGATCCTGGACCAGTGCCCCGACCGCGGCGCGCCGGTGCCGCAGATGCTGGCCCAGCCGCAGCGGCTGCTCTTCATCCTGGACGGC
GCGGACGAGCTGCCGGCGCTGGGGGGCCCCGAGGCCGCGCCCTGCACAGACCCCTTCGAGGCGGCGAGCGGCGCGCGGGTGCTAGGCGGGCTGCTGAGCAAGGCG
CTGCTGCCCACGGCCCTCCTGCTGGTGACCACGCGCGCCGCCGCCCCCGGGAGGCTGCAGGGCCGCCTGTGTTCCCCGCAGTGCGCCGAGGTGCGCGGCTTCTCC
GACAAGGACAAGAAGAAGTATTTCTACAAGTTCTTCCGGGATGAGAGGAGGGCCGAGCGCGCCTACCGCTTCGTGAAGGAGAACGAGACGCTGTTCGCGCTGTGC
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>NLRP6|171389|protein
MDQPEAPCSSTGPRLAVARELLLAALEELSQEQLKRFRHKLRDVGPDGRSIPWGRLERADAVDLAEQLAQFYGPEPALEVARKTLKRADARDVAAQLQERRLQRL
GLGSGTLLSVSEYKKKYREHVLQLHARVKERNARSVKITKRFTKLLIAPESAAPEEALGPAEEPEPGRARRSDTHTFNRLFRRDEEGRRPLTVVLQGPAGIGKTM
AAKKILYDWAAGKLYQGQVDFAFFMPCGELLERPGTRSLADLILDQCPDRGAPVPQMLAQPQRLLFILDGADELPALGGPEAAPCTDPFEAASGARVLGGLLSKA
LLPTALLLVTTRAAAPGRLQGRLCSPQCAEVRGFSDKDKKKYFYKFFRDERRAERAYRFVKENETLFALCFVPFVCWIVCTVLRQQLELGRDLSRTSKTTTSVYL
LFITSVLSSAPVADGPRLQGDLRNLCRLAREGVLGRRAQFAEKELEQLELRGSKVQTLFLSKKELPGVLETEVTYQFIDQSFQEFLAALSYLLEDGGVPRTAAGG
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top