AutismKB 2.0

Evidence Details for P2RX4


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Basic Information Top
Gene Symbol:P2RX4 ( P2X4,P2X4R )
Gene Full Name: purinergic receptor P2X, ligand-gated ion channel, 4
Band: 12q24.31
Quick LinksEntrez ID:5025; OMIM: 600846; Uniprot ID:P2RX4_HUMAN; ENSEMBL ID: ENSG00000135124; HGNC ID: 8535
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>P2RX4|5025|nucleotide
ATGGCGGGCTGCTGCGCCGCGCTGGCGGCCTTCCTGTTCGAGTACGACACGCCGCGCATCGTGCTCATCCGCAGCCGCAAAGTGGGGCTCATGAACCGCGCCGTG
CAACTGCTCATCCTGGCCTACGTCATCGGGTGGGTGTTTGTGTGGGAAAAGGGCTACCAGGAAACTGACTCCGTGGTCAGCTCCGTTACGACCAAGGTCAAGGGC
GTGGCTGTGACCAACACTTCTAAACTTGGATTCCGGATCTGGGATGTGGCGGATTATGTGATACCAGCTCAGGAGGAAAACTCCCTCTTCGTCATGACCAACGTG
ATCCTCACCATGAACCAGACACAGGGCCTGTGCCCCGAGATTCCAGATGCGACCACTGTGTGTAAATCAGATGCCAGCTGTACTGCCGGCTCTGCCGGCACCCAC
AGCAACGGAGTCTCAACAGGCAGGTGCGTAGCTTTCAACGGGTCTGTCAAGACGTGTGAGGTGGCGGCCTGGTGCCCGGTGGAGGATGACACACACGTGCCACAA
CCTGCTTTTTTAAAGGCTGCAGAAAACTTCACTCTTTTGGTTAAGAACAACATCTGGTATCCCAAATTTAATTTCAGCAAGAGGAATATCCTTCCCAACATCACC
ACTACTTACCTCAAGTCGTGCATTTATGATGCTAAAACAGATCCCTTCTGCCCCATATTCCGTCTTGGCAAAATAGTGGAGAACGCAGGACACAGTTTCCAGGAC
ATGGCCGTGGAGGGAGGCATCATGGGCATCCAGGTCAACTGGGACTGCAACCTGGACAGAGCCGCCTCCCTCTGCTTGCCCAGGTACTCCTTCCGCCGCCTCGAT
ACACGGGACGTTGAGCACAACGTATCTCCTGGCTACAATTTCAGGTTTGCCAAGTACTACAGAGACCTGGCTGGCAACGAGCAGCGCACGCTCATCAAGGCCTAT
GGCATCCGCTTCGACATCATTGTGTTTGGGAAGGCAGGGAAATTTGACATCATCCCCACTATGATCAACATCGGCTCTGGCCTGGCACTGCTAGGCATGGCGACC
GTGCTGTGTGACATCATAGTCCTCTACTGCATGAAGAAAAGACTCTACTATCGGGAGAAGAAATATAAATATGTGGAAGATTACGAGCAGGGTCTTGCTAGTGAG
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>P2RX4|5025|protein
MAGCCAALAAFLFEYDTPRIVLIRSRKVGLMNRAVQLLILAYVIGWVFVWEKGYQETDSVVSSVTTKVKGVAVTNTSKLGFRIWDVADYVIPAQEENSLFVMTNV
ILTMNQTQGLCPEIPDATTVCKSDASCTAGSAGTHSNGVSTGRCVAFNGSVKTCEVAAWCPVEDDTHVPQPAFLKAAENFTLLVKNNIWYPKFNFSKRNILPNIT
TTYLKSCIYDAKTDPFCPIFRLGKIVENAGHSFQDMAVEGGIMGIQVNWDCNLDRAASLCLPRYSFRRLDTRDVEHNVSPGYNFRFAKYYRDLAGNEQRTLIKAY
GIRFDIIVFGKAGKFDIIPTMINIGSGLALLGMATVLCDIIVLYCMKKRLYYREKKYKYVEDYEQGLASELDQ

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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top