AutismKB 2.0

Evidence Details for NLRP1


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Basic Information Top
Gene Symbol:NLRP1 ( CARD7,CLR17.1,DEFCAP,DEFCAP-L/S,DKFZp586O1822,KIAA0926,NAC,NALP1,PP1044,SLEV1,VAMAS1 )
Gene Full Name: NLR family, pyrin domain containing 1
Band: 17p13
Quick LinksEntrez ID:22861; OMIM: 606636; Uniprot ID:NALP1_HUMAN; ENSEMBL ID: ENSG00000091592; HGNC ID: 14374
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLRP1|22861|nucleotide
ATGGCTGGCGGAGCCTGGGGCCGCCTGGCCTGTTACTTGGAGTTCCTGAAGAAGGAGGAGCTGAAGGAGTTCCAGCTTCTGCTCGCCAATAAAGCGCACTCCAGG
AGCTCTTCGGGTGAGACACCCGCTCAGCCAGAGAAGACGAGTGGCATGGAGGTGGCCTCGTACCTGGTGGCTCAGTATGGGGAGCAGCGGGCCTGGGACCTAGCC
CTCCATACCTGGGAGCAGATGGGGCTGAGGTCACTGTGCGCCCAAGCCCAGGAAGGGGCAGGCCACTCTCCCTCATTCCCCTACAGCCCAAGTGAACCCCACCTG
GGGTCTCCCAGCCAACCCACCTCCACCGCAGTGCTAATGCCCTGGATCCATGAATTGCCGGCGGGGTGCACCCAGGGCTCAGAGAGAAGGGTTTTGAGACAGCTG
CCTGACACATCTGGACGCCGCTGGAGAGAAATCTCTGCCTCACTCCTCTACCAAGCTCTTCCAAGCTCCCCAGACCATGAGTCTCCAAGCCAGGAGTCACCCAAC
GCCCCCACATCCACAGCAGTGCTGGGGAGCTGGGGATCCCCACCTCAGCCCAGCCTAGCACCCAGAGAGCAGGAGGCTCCTGGGACCCAATGGCCTCTGGATGAA
ACGTCAGGAATTTACTACACAGAAATCAGAGAAAGAGAGAGAGAGAAATCAGAGAAAGGCAGGCCCCCATGGGCAGCGGTGGTAGGAACGCCCCCACAGGCGCAC
ACCAGCCTACAGCCCCACCACCACCCATGGGAGCCTTCTGTGAGAGAGAGCCTCTGTTCCACATGGCCCTGGAAAAATGAGGATTTTAACCAAAAATTCACACAG
CTGCTACTTCTACAAAGACCTCACCCCAGAAGCCAAGATCCCCTGGTCAAGAGAAGCTGGCCTGATTATGTGGAGGAGAATCGAGGACATTTAATTGAGATCAGA
GACTTATTTGGCCCAGGCCTGGATACCCAAGAACCTCGCATAGTCATACTGCAGGGGGCTGCTGGAATTGGGAAGTCAACACTGGCCAGGCAGGTGAAGGAAGCC
TGGGGGAGAGGCCAGCTGTATGGGGACCGCTTCCAGCATGTCTTCTACTTCAGCTGCAGAGAGCTGGCCCAGTCCAAGGTGGTGAGTCTCGCTGAGCTCATCGGA
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>NLRP1|22861|protein
MAGGAWGRLACYLEFLKKEELKEFQLLLANKAHSRSSSGETPAQPEKTSGMEVASYLVAQYGEQRAWDLALHTWEQMGLRSLCAQAQEGAGHSPSFPYSPSEPHL
GSPSQPTSTAVLMPWIHELPAGCTQGSERRVLRQLPDTSGRRWREISASLLYQALPSSPDHESPSQESPNAPTSTAVLGSWGSPPQPSLAPREQEAPGTQWPLDE
TSGIYYTEIREREREKSEKGRPPWAAVVGTPPQAHTSLQPHHHPWEPSVRESLCSTWPWKNEDFNQKFTQLLLLQRPHPRSQDPLVKRSWPDYVEENRGHLIEIR
DLFGPGLDTQEPRIVILQGAAGIGKSTLARQVKEAWGRGQLYGDRFQHVFYFSCRELAQSKVVSLAELIGKDGTATPAPIRQILSRPERLLFILDGVDEPGWVLQ
EPSSELCLHWSQPQPADALLGSLLGKTILPEASFLITARTTALQNLIPSLEQARWVEVLGFSESSRKEYFYRYFTDERQAIRAFRLVKSNKELWALCLVPWVSWL
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top