AutismKB 2.0

Evidence Details for PPP1CA


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Basic Information Top
Gene Symbol:PPP1CA ( MGC15877,MGC1674,PP-1A,PP1alpha,PPP1A )
Gene Full Name: protein phosphatase 1, catalytic subunit, alpha isozyme
Band: 11q13
Quick LinksEntrez ID:5499; OMIM: 176875; Uniprot ID:PP1A_HUMAN; ENSEMBL ID: ENSG00000172531; HGNC ID: 9281
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP1CA|5499|nucleotide
ATGTCCGACAGCGAGAAGCTCAACCTGGACTCGATCATCGGGCGCCTGCTGGAAGGGTCCAGGGTCCTGACACCCCATTGCGCCCCAGTGCAGGGCTCGCGGCCT
GGCAAGAATGTACAGCTGACAGAGAACGAGATCCGCGGTCTGTGCCTGAAATCCCGGGAGATTTTTCTGAGCCAGCCCATTCTTCTGGAGCTGGAGGCACCCCTC
AAGATCTGCGGTGACATACACGGCCAGTACTACGACCTTCTGCGACTATTTGAGTATGGCGGTTTCCCTCCCGAGAGCAACTACCTCTTTCTGGGGGACTATGTG
GACAGGGGCAAGCAGTCCTTGGAGACCATCTGCCTGCTGCTGGCCTATAAGATCAAGTACCCCGAGAACTTCTTCCTGCTCCGTGGGAACCACGAGTGTGCCAGC
ATCAACCGCATCTATGGTTTCTACGATGAGTGCAAGAGACGCTACAACATCAAACTGTGGAAAACCTTCACTGACTGCTTCAACTGCCTGCCCATCGCGGCCATA
GTGGACGAAAAGATCTTCTGCTGCCACGGAGGCCTGTCCCCGGACCTGCAGTCTATGGAGCAGATTCGGCGGATCATGCGGCCCACAGATGTGCCTGACCAGGGC
CTGCTGTGTGACCTGCTGTGGTCTGACCCTGACAAGGACGTGCAGGGCTGGGGCGAGAACGACCGTGGCGTCTCTTTTACCTTTGGAGCCGAGGTGGTGGCCAAG
TTCCTCCACAAGCACGACTTGGACCTCATCTGCCGAGCACACCAGGTGGTAGAAGACGGCTACGAGTTCTTTGCCAAGCGGCAGCTGGTGACACTTTTCTCAGCT
CCCAACTACTGTGGCGAGTTTGACAATGCTGGCGCCATGATGAGTGTGGACGAGACCCTCATGTGCTCTTTCCAGATCCTCAAGCCCGCCGACAAGAACAAGGGG
AAGTACGGGCAGTTCAGTGGCCTGAACCCTGGAGGCCGACCCATCACCCCACCCCGCAATTCCGCCAAAGCCAAGAAATAG

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>PPP1CA|5499|protein
MSDSEKLNLDSIIGRLLEGSRVLTPHCAPVQGSRPGKNVQLTENEIRGLCLKSREIFLSQPILLELEAPLKICGDIHGQYYDLLRLFEYGGFPPESNYLFLGDYV
DRGKQSLETICLLLAYKIKYPENFFLLRGNHECASINRIYGFYDECKRRYNIKLWKTFTDCFNCLPIAAIVDEKIFCCHGGLSPDLQSMEQIRRIMRPTDVPDQG
LLCDLLWSDPDKDVQGWGENDRGVSFTFGAEVVAKFLHKHDLDLICRAHQVVEDGYEFFAKRQLVTLFSAPNYCGEFDNAGAMMSVDETLMCSFQILKPADKNKG
KYGQFSGLNPGGRPITPPRNSAKAKK

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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top