AutismKB 2.0

Evidence Details for NLRP11


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Basic Information Top
Gene Symbol:NLRP11 ( CLR19.6,FLJ26273,NALP11,NOD17,PAN10,PYPAF6,PYPAF7 )
Gene Full Name: NLR family, pyrin domain containing 11
Band: 19q13.43
Quick LinksEntrez ID:204801; OMIM: 609664; Uniprot ID:NAL11_HUMAN; ENSEMBL ID: ENSG00000179873; HGNC ID: 22945
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLRP11|204801|nucleotide
ATGGCAGAATCGGATTCTACTGACTTTGACCTGCTGTGGTATCTAGAGAATCTCAGTGACAAGGAATTTCAGAGTTTTAAGAAGTATCTGGCACGCAAGATTCTT
GATTTCAAACTGCCACAGTTTCCACTGATACAGATGACAAAAGAAGAACTGGCTAACGTGTTGCCAATCTCTTATGAGGGACAGTATATATGGAATATGCTCTTC
AGCATATTTTCAATGATGCGTAAGGAAGATCTTTGTAGGAAGATCATTGGCAGACGAAACCGCAATCAGGAGGCATGCAAAGCTGTCATGAGGAGAAAATTCATG
CTGCAATGGGAAAGTCACACTTTTGGAAAATTTCATTATAAATTTTTTCGTGACGTTTCGTCAGATGTGTTCTACATACTTCAATTAGCCTATGATTCTACCAGC
TATTATTCAGCAAACAATCTCAATGTGTTCCTGATGGGAGAGAGAGCATCTGGAAAAACTATTGTTATAAATCTGGCTGTGTTGAGGTGGATCAAGGGTGAGATG
TGGCAGAACATGATCTCGTACGTCGTTCACCTCACTGCTCACGAAATAAACCAGATGACCAACAGCAGCTTGGCTGAGCTAATCGCCAAGGACTGGCCTGACGGC
CAGGCTCCCATTGCAGACATCCTGTCTGATCCCAAGAAACTCCTTTTCATCCTCGAGGACTTGGACAACATAAGATTCGAGTTAAATGTCAATGAAAGTGCTTTG
TGTAGTAACAGCACCCAGAAAGTTCCCATTCCAGTTCTCCTGGTCAGTTTGCTGAAGAGAAAAATGGCTCCAGGCTGCTGGTTCCTCATCTCCTCAAGGCCCACA
CGTGGGAATAATGTAAAAACGTTCTTGAAAGAGGTAGATTGCTGCACGACCTTGCAGCTGTCGAATGGGAAGAGGGAGATATATTTTAACTCTTTCTTTAAAGAC
CGCCAGAGGGCGTCGGCAGCCCTCCAGCTTGTACATGAGGATGAAATACTCGTGGGTCTGTGCCGAGTCGCCATCTTATGCTGGATCACGTGTACTGTCCTGAAG
CGGCAGATGGACAAGGGGCGTGACTTCCAGCTCTGCTGCCAAACACCCACTGATCTACATGCCCACTTTCTTGCTGATGCGTTGACATCAGAGGCTGGACTTACT
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>NLRP11|204801|protein
MAESDSTDFDLLWYLENLSDKEFQSFKKYLARKILDFKLPQFPLIQMTKEELANVLPISYEGQYIWNMLFSIFSMMRKEDLCRKIIGRRNRNQEACKAVMRRKFM
LQWESHTFGKFHYKFFRDVSSDVFYILQLAYDSTSYYSANNLNVFLMGERASGKTIVINLAVLRWIKGEMWQNMISYVVHLTAHEINQMTNSSLAELIAKDWPDG
QAPIADILSDPKKLLFILEDLDNIRFELNVNESALCSNSTQKVPIPVLLVSLLKRKMAPGCWFLISSRPTRGNNVKTFLKEVDCCTTLQLSNGKREIYFNSFFKD
RQRASAALQLVHEDEILVGLCRVAILCWITCTVLKRQMDKGRDFQLCCQTPTDLHAHFLADALTSEAGLTANQYHLGLLKRLCLLAAGGLFLSTLNFSGEDLRCV
GFTEADVSVLQAANILLPSNTHKDRYKFIHLNVQEFCTAIAFLMAVPNYLIPSGSREYKEKREQYSDFNQVFTFIFGLLNANRRKILETSFGYQLPMVDSFKWYS
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top