AutismKB 2.0

Evidence Details for NLRP7


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Basic Information Top
Gene Symbol:NLRP7 ( CLR19.4,FLJ94610,HYDM,MGC126470,MGC126471,NALP7,NOD12,PAN7,PYPAF3 )
Gene Full Name: NLR family, pyrin domain containing 7
Band: 19q13.42
Quick LinksEntrez ID:199713; OMIM: 609661; Uniprot ID:NALP7_HUMAN; ENSEMBL ID: ENSG00000167634; HGNC ID: 22947
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NLRP7|199713|nucleotide
ATGACATCGCCCCAGCTAGAGTGGACTCTGCAGACCCTTCTGGAGCAGCTGAACGAGGATGAATTAAAGAGTTTCAAATCCCTTTTATGGGCTTTTCCCCTCGAA
GACGTGCTACAGAAGACCCCATGGTCTGAGGTGGAAGAGGCTGATGGCAAGAAACTGGCAGAAATTCTGGTCAACACCTCCTCAGAAAATTGGATAAGGAATGCG
ACTGTGAACATCTTGGAAGAGATGAATCTCACGGAATTGTGTAAGATGGCAAAGGCTGAGATGATGGAGGACGGACAGGTGCAAGAAATAGATAATCCTGAGCTG
GGAGATGCAGAAGAAGACTCGGAGTTAGCAAAGCCAGGTGAAAAGGAAGGATGGAGAAATTCAATGGAGAAACAGTCTTTGGTCTGGAAGAACACCTTTTGGCAA
GGAGACATTGACAATTTCCATGACGACGTCACTCTGAGAAACCAACGGTTCATTCCATTCTTGAATCCCAGAACACCCAGGAAGCTAACACCTTACACGGTGGTG
CTGCACGGCCCCGCAGGCGTGGGGAAAACCACGCTGGCCAAAAAGTGTATGCTGGACTGGACAGACTGCAACCTCAGCCCGACGCTCAGATACGCGTTCTACCTC
AGCTGCAAGGAGCTCAGCCGCATGGGCCCCTGCAGTTTTGCAGAGCTGATCTCCAAAGACTGGCCTGAATTGCAGGATGACATTCCAAGCATCCTAGCCCAAGCA
CAGAGAATCCTGTTCGTGGTCGATGGCCTTGATGAGCTGAAAGTCCCACCTGGGGCGCTGATCCAGGACATCTGCGGGGACTGGGAGAAGAAGAAGCCGGTGCCC
GTCCTCCTGGGGAGTTTGCTGAAGAGGAAGATGTTACCCAGGGCAGCCTTGCTGGTCACCACGCGGCCCAGGGCACTGAGGGACCTCCAGCTCCTGGCGCAGCAG
CCGATCTACGTAAGGGTGGAGGGCTTCCTGGAGGAGGACAGGAGGGCCTATTTCCTGAGACACTTTGGAGACGAGGACCAAGCCATGCGTGCCTTTGAGCTAATG
AGGAGCAACGCGGCCCTGTTCCAGCTGGGCTCGGCCCCCGCGGTGTGCTGGATTGTGTGCACGACTCTGAAGCTGCAGATGGAGAAGGGGGAGGACCCGGTCCCC
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>NLRP7|199713|protein
MTSPQLEWTLQTLLEQLNEDELKSFKSLLWAFPLEDVLQKTPWSEVEEADGKKLAEILVNTSSENWIRNATVNILEEMNLTELCKMAKAEMMEDGQVQEIDNPEL
GDAEEDSELAKPGEKEGWRNSMEKQSLVWKNTFWQGDIDNFHDDVTLRNQRFIPFLNPRTPRKLTPYTVVLHGPAGVGKTTLAKKCMLDWTDCNLSPTLRYAFYL
SCKELSRMGPCSFAELISKDWPELQDDIPSILAQAQRILFVVDGLDELKVPPGALIQDICGDWEKKKPVPVLLGSLLKRKMLPRAALLVTTRPRALRDLQLLAQQ
PIYVRVEGFLEEDRRAYFLRHFGDEDQAMRAFELMRSNAALFQLGSAPAVCWIVCTTLKLQMEKGEDPVPTCLTRTGLFLRFLCSRFPQGAQLRGALRTLSLLAA
QGLWAQMSVFHREDLERLGVQESDLRLFLDGDILRQDRVSKGCYSFIHLSFQQFLTALFYALEKEEGEDRDGHAWDIGDVQKLLSGEERLKNPDLIQVGHFLFGL
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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 (4) 1 (1) 0 (0) 0 (0) 1 (3) 0 (1) 0 (0) 0 (0) 14 (9)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top