AutismKB 2.0

Evidence Details for PPP2R3B


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Basic Information Top
Gene Symbol:PPP2R3B ( FLJ60425,NYREN8,PPP2R3L,PPP2R3LY,PR48 )
Gene Full Name: protein phosphatase 2, regulatory subunit B'', beta
Band: Xp22.3 and Yp11.3
Quick LinksEntrez ID:28227; OMIM: 300339; Uniprot ID:P2R3B_HUMAN; ENSEMBL ID: ENSG00000167393; HGNC ID: 13417
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP2R3B|28227|nucleotide
ATGCCGCCCGGCAAAGTGCTGCAGCCGGTCCTGAAGATGAAGGTGGACGAGCTGTTCCTGTACTGGCTCAGCGAGGCCAGCACGCAGCGGATGCTGCAGGACTGC
CTGCGCCGGATCAAGGCGCCCGGGCGGGACCAGCCGACCCCGGGGGACGGGGAGCAGCCCGGGGCCTGGCCCACAGCCCCGCTCGCCGCCCCCCGGCCCAGCGGG
CTCGAACCCCCGGGAACCCCCGGGCCGGGCCCTGCGCTGCCCCTGGGCGCCGCCTCCAGCCCCAGGAACGCGCCCCACGTTCGAGGCACCCGTAGATCCGCAGGG
ACGAGAGTAGTTCAGACACGGAAAGAAGAGCCTCTGCCCCCGGCCACGAGCCAAAGCATTCCGACCTTCTACTTCCCCAGAGGACGCCCGCAGGACTCCGTCAAC
GTGGATGCCGTCATCAGCAAGATCGAGAGCACCTTCGCCCGGTTCCCCCACGAGAGGGCCACCATGGATGACATGGGCCTGGTGGCCAAGGCCTGCGGCTGCCCC
CTCTACTGGAAGGGGCCGCTCTTCTATGGCGCCGGCGGGGAGCGCACGGGCTCCGTGTCCGTCCACAAGTTCGTCGCCATGTGGAGAAAAATCCTCCAGAACTGC
CACGACGACGCGGCCAAGTTCGTCCATCTGCTCATGAGCCCCGGCTGCAACTACCTGGTGCAGGAGGACTTTGTCCCCTTCTTGCAGGACGTGGTGAACACGCAC
CCGGGGCTGTCGTTCCTGAAGGAGGCGTCCGAGTTCCACTCGCGCTACATCACCACGGTCATCCAGCGGATCTTCTACGCCGTGAACCGGTCCTGGTCCGGCAGG
ATCACCTGCGCCGAGCTGCGGAGGAGCTCCTTCCTGCAGAATGTGGCGCTGCTGGAGGAGGAGGCGGACATCAACCAGCTGACCGAATTCTTCTCGTACGAGCAT
TTCTACGTCATCTACTGCAAGTTCTGGGAGCTGGACACGGACCACGACCTGCTCATCGACGCGGACGACCTGGCGCGGCACAATGACCACGCCCTTTCTACCAAG
ATGATAGACAGGATCTTCTCAGGAGCAGTCACACGAGGCAGAAAAGTGCAGAAGGAAGGGAAGATCAGCTATGCCGACTTTGTCTGGTTTTTGATCTCTGAGGAA
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>PPP2R3B|28227|protein
MPPGKVLQPVLKMKVDELFLYWLSEASTQRMLQDCLRRIKAPGRDQPTPGDGEQPGAWPTAPLAAPRPSGLEPPGTPGPGPALPLGAASSPRNAPHVRGTRRSAG
TRVVQTRKEEPLPPATSQSIPTFYFPRGRPQDSVNVDAVISKIESTFARFPHERATMDDMGLVAKACGCPLYWKGPLFYGAGGERTGSVSVHKFVAMWRKILQNC
HDDAAKFVHLLMSPGCNYLVQEDFVPFLQDVVNTHPGLSFLKEASEFHSRYITTVIQRIFYAVNRSWSGRITCAELRRSSFLQNVALLEEEADINQLTEFFSYEH
FYVIYCKFWELDTDHDLLIDADDLARHNDHALSTKMIDRIFSGAVTRGRKVQKEGKISYADFVWFLISEEDKKTPTSIEYWFRCMDLDGDGALSMFELEYFYEEQ
CRRLDSMAIEALPFQDCLCQMLDLVKPRTEGKITLQDLKRCKLANVFFDTFFNIEKYLDHEQKEQISLLRDGDSGGPELSDWEKYAAEEYDILVAEETAGEPWED
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Laplana M, 2014 - aCGHASD 1 - - - 1 5 6
Linkage Studies Top