AutismKB 2.0

Evidence Details for NLRP5


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Basic Information Top
Gene Symbol:NLRP5 ( CLR19.8,MATER,NALP5,PAN11,PYPAF8 )
Gene Full Name: NLR family, pyrin domain containing 5
Band: 19q13.43
Quick LinksEntrez ID:126206; OMIM: 609658; Uniprot ID:NALP5_HUMAN; ENSEMBL ID: ENSG00000171487; HGNC ID: 21269
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLRP5|126206|nucleotide
ATGAAGGTTGCAGGAGGACTTGAACTTGGAGCTGCTGCTCTGCTCTCAGCATCACCACGTGCTCTTGTCACTCTTTCCACAGGTCCTACTTGCTCTATATTACCA
AAGAATCCACTTTTCCCCCAAAACCTGAGCTCTCAGCCTTGTATCAAGATGGAAGGAGACAAATCGCTCACCTTTTCCAGCTACGGGCTGCAATGGTGTCTCTAT
GAGCTAGACAAGGAAGAATTTCAGACATTCAAGGAATTACTAAAGAAGAAATCTTCAGAATCGACCACATGCTCTATTCCACAGTTTGAAATCGAGAATGCCAAC
GTGGAATGTCTGGCACTCCTCTTGCATGAGTATTATGGAGCATCGCTGGCCTGGGCTACGTCCATTAGCATCTTTGAAAACATGAACCTGCGAACCCTCTCGGAG
AAGGCACGGGATGACATGAAAAGACATTCACCAGAAGATCCTGAAGCAACGATGACTGACCAAGGACCAAGCAAGGAAAAAGTGCCAGGAATTTCACAAGCTGTG
CAACAAGATAGTGCCACAGCTGCAGAGACAAAAGAACAAGAAATTTCACAAGCTATGGAACAAGAAGGTGCCACAGCAGCAGAGACAGAAGAACAAGAAATTTCA
CAAGCTATGGAACAAGAAGGTGCCACAGCAGCAGAGACAGAAGAACAAGGACATGGAGGTGACACATGGGACTACAAGAGTCACGTGATGACCAAATTCGCTGAG
GAGGAGGATGTACGTCGTAGTTTTGAAAACACTGCTGCTGACTGGCCGGAAATGCAAACGTTGGCTGGTGCTTTTGATTCAGACCGGTGGGGCTTCCGGCCTCGC
ACGGTGGTTCTGCACGGAAAGTCAGGAATTGGGAAATCGGCTCTAGCCAGAAGGATCGTGCTGTGCTGGGCGCAAGGTGGACTCTACCAGGGAATGTTCTCCTAC
GTCTTCTTCCTCCCCGTTAGAGAGATGCAGCGGAAGAAGGAGAGCAGTGTCACAGAGTTCATCTCCAGGGAGTGGCCAGACTCCCAGGCTCCGGTGACGGAGATC
ATGTCCCGACCAGAAAGGCTGTTGTTCATCATTGACGGTTTCGATGACCTGGGCTCTGTCCTCAACAATGACACAAAGCTCTGCAAAGACTGGGCTGAGAAGCAG
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>NLRP5|126206|protein
MKVAGGLELGAAALLSASPRALVTLSTGPTCSILPKNPLFPQNLSSQPCIKMEGDKSLTFSSYGLQWCLYELDKEEFQTFKELLKKKSSESTTCSIPQFEIENAN
VECLALLLHEYYGASLAWATSISIFENMNLRTLSEKARDDMKRHSPEDPEATMTDQGPSKEKVPGISQAVQQDSATAAETKEQEISQAMEQEGATAAETEEQEIS
QAMEQEGATAAETEEQGHGGDTWDYKSHVMTKFAEEEDVRRSFENTAADWPEMQTLAGAFDSDRWGFRPRTVVLHGKSGIGKSALARRIVLCWAQGGLYQGMFSY
VFFLPVREMQRKKESSVTEFISREWPDSQAPVTEIMSRPERLLFIIDGFDDLGSVLNNDTKLCKDWAEKQPPFTLIRSLLRKVLLPESFLIVTVRDVGTEKLKSE
VVSPRYLLVRGISGEQRIHLLLERGIGEHQKTQGLRAIMNNRELLDQCQVPAVGSLICVALQLQDVVGESVAPFNQTLTGLHAAFVFHQLTPRGVVRRCLNLEER
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 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
Linkage Studies Top