AutismKB 2.0

Evidence Details for PPP2R1A


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Basic Information Top
Gene Symbol:PPP2R1A ( MGC786,PP2A-Aalpha,PP2AAALPHA,PR65A )
Gene Full Name: protein phosphatase 2, regulatory subunit A, alpha
Band: 19q13.41
Quick LinksEntrez ID:5518; OMIM: 605983; Uniprot ID:2AAA_HUMAN; ENSEMBL ID: ENSG00000105568; HGNC ID: 9302
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP2R1A|5518|nucleotide
ATGGCGGCGGCCGACGGCGACGACTCGCTGTACCCCATCGCGGTGCTCATAGACGAACTCCGCAATGAGGACGTTCAGCTTCGCCTCAACAGCATCAAGAAGCTG
TCCACCATCGCCTTGGCCCTTGGGGTTGAAAGGACCCGAAGTGAGCTTCTGCCTTTCCTTACAGATACCATCTATGATGAAGATGAGGTCCTCCTGGCCCTGGCA
GAACAGCTGGGAACCTTCACTACCCTGGTGGGAGGCCCAGAGTACGTGCACTGCCTGCTGCCACCGCTGGAGTCGCTGGCCACAGTGGAGGAGACAGTGGTGCGG
GACAAGGCAGTGGAGTCCTTACGGGCCATCTCACACGAGCACTCGCCCTCTGACCTGGAGGCGCACTTTGTGCCGCTAGTGAAGCGGCTGGCGGGCGGCGACTGG
TTCACCTCCCGCACCTCGGCCTGCGGCCTCTTCTCCGTCTGCTACCCCCGAGTGTCCAGTGCTGTGAAGGCGGAACTTCGACAGTACTTCCGGAACCTGTGCTCA
GATGACACCCCCATGGTGCGGCGGGCCGCAGCCTCCAAGCTGGGGGAGTTTGCCAAGGTGCTGGAGCTGGACAACGTCAAGAGTGAGATCATCCCCATGTTCTCC
AACCTGGCCTCTGACGAGCAGGACTCGGTGCGGCTGCTGGCGGTGGAGGCGTGCGTGAACATCGCCCAGCTTCTGCCCCAGGAGGATCTGGAGGCCCTGGTGATG
CCCACTCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCTACATGGTGGCTGACAAGTTCACAGAGCTCCAGAAAGCAGTGGGGCCTGAGATCACCAAG
ACAGACCTGGTCCCTGCCTTCCAGAACCTGATGAAAGACTGTGAGGCCGAGGTGAGGGCCGCAGCCTCCCACAAGGTCAAAGAGTTCTGTGAAAACCTCTCAGCT
GACTGTCGGGAGAATGTGATCATGTCCCAGATCTTGCCCTGCATCAAGGAGCTGGTGTCCGATGCCAACCAACATGTCAAGTCTGCCCTGGCCTCAGTCATCATG
GGTCTCTCTCCCATCTTGGGCAAAGACAACACCATCGAGCACCTCTTGCCCCTCTTCCTGGCTCAGCTGAAGGATGAGTGCCCTGAGGTACGGCTGAACATCATC
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>PPP2R1A|5518|protein
MAAADGDDSLYPIAVLIDELRNEDVQLRLNSIKKLSTIALALGVERTRSELLPFLTDTIYDEDEVLLALAEQLGTFTTLVGGPEYVHCLLPPLESLATVEETVVR
DKAVESLRAISHEHSPSDLEAHFVPLVKRLAGGDWFTSRTSACGLFSVCYPRVSSAVKAELRQYFRNLCSDDTPMVRRAAASKLGEFAKVLELDNVKSEIIPMFS
NLASDEQDSVRLLAVEACVNIAQLLPQEDLEALVMPTLRQAAEDKSWRVRYMVADKFTELQKAVGPEITKTDLVPAFQNLMKDCEAEVRAAASHKVKEFCENLSA
DCRENVIMSQILPCIKELVSDANQHVKSALASVIMGLSPILGKDNTIEHLLPLFLAQLKDECPEVRLNIISNLDCVNEVIGIRQLSQSLLPAIVELAEDAKWRVR
LAIIEYMPLLAGQLGVEFFDEKLNSLCMAWLVDHVYAIREAATSNLKKLVEKFGKEWAHATIIPKVLAMSGDPNYLHRMTTLFCINVLSEVCGQDITTKHMLPTV
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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 (0) 1 (1) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top