AutismKB 2.0

Evidence Details for PPP1R15A


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Basic Information Top
Gene Symbol:PPP1R15A ( GADD34 )
Gene Full Name: protein phosphatase 1, regulatory (inhibitor) subunit 15A
Band: 19q13.2
Quick LinksEntrez ID:23645; OMIM: 611048; Uniprot ID:PR15A_HUMAN; ENSEMBL ID: ENSG00000087074; HGNC ID: 14375
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP1R15A|23645|nucleotide
ATGGCCCCAGGCCAAGCACCCCATCAGGCTACCCCGTGGAGGGATGCCCACCCTTTCTTCCTCCTGTCCCCAGTGATGGGCCTCCTCAGCCGCGCCTGGAGCCGC
CTGAGGGGCCTGGGACCTCTAGAGCCCTGGCTGGTGGAAGCAGTAAAAGGAGCAGCTCTGGTAGAAGCTGGCCTGGAGGGAGAAGCTAGGACTCCTCTGGCAATC
CCCCATACCCCTTGGGGCAGACGCCCTGAAGAGGAGGCTGAAGACAGTGGAGGCCCTGGAGAGGACAGAGAAACACTGGGGCTGAAAACCAGCAGTTCCCTTCCT
GAAGCCTGGGGACTTTTGGATGATGATGATGGCATGTATGGTGAGCGAGAGGCAACCAGTGTCCCTAGAGGGCAGGGAAGTCAATTTGCAGATGGCCAGCGTGCT
CCCCTGTCTCCCAGCCTTCTGATAAGGACACTGCAAGGTTCTGATAAGAACCCAGGGGAGGAGAAAGCCGAGGAAGAGGGAGTTGCTGAAGAGGAGGGAGTTAAC
AAGTTCTCTTATCCACCATCACACCGGGAGTGTTGTCCAGCCGTGGAGGAGGAGGACGATGAAGAAGCTGTAAAGAAAGAAGCTCACAGAACCTCTACTTCTGCC
TTGTCTCCAGGATCCAAGCCCAGCACTTGGGTGTCTTGCCCAGGGGAGGAAGAGAATCAAGCCACGGAGGATAAAAGAACAGAAAGAAGTAAAGGAGCCAGGAAG
ACCTCCGTGTCCCCCCGATCTTCAGGCTCCGACCCCAGGTCCTGGGAGTATCGTTCAGGAGAGGCGTCCGAGGAGAAGGAGGAAAAGGCACACAAAGAAACTGGG
AAAGGAGAAGCTGCCCCAGGGCCGCAATCCTCAGCCCCAGCCCAGAGGCCCCAGCTCAAGTCCTGGTGGTGCCAACCCAGTGATGAAGAGGAGGGTGAGGTCAAG
GCTTTGGGGGCAGCTGAGAAGGATGGAGAAGCTGAGTGTCCTCCCTGCATCCCCCCACCAAGTGCCTTCCTGAAGGCCTGGGTGTATTGGCCAGGAGAGGACACA
GAGGAAGAGGAAGATGAGGAAGAAGATGAGGACAGTGACTCTGGATCAGATGAGGAAGAGGGAGAAGCTGAGGCTTCCTCTTCCACTCCTGCTACAGGTGTCTTC
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>PPP1R15A|23645|protein
MAPGQAPHQATPWRDAHPFFLLSPVMGLLSRAWSRLRGLGPLEPWLVEAVKGAALVEAGLEGEARTPLAIPHTPWGRRPEEEAEDSGGPGEDRETLGLKTSSSLP
EAWGLLDDDDGMYGEREATSVPRGQGSQFADGQRAPLSPSLLIRTLQGSDKNPGEEKAEEEGVAEEEGVNKFSYPPSHRECCPAVEEEDDEEAVKKEAHRTSTSA
LSPGSKPSTWVSCPGEEENQATEDKRTERSKGARKTSVSPRSSGSDPRSWEYRSGEASEEKEEKAHKETGKGEAAPGPQSSAPAQRPQLKSWWCQPSDEEEGEVK
ALGAAEKDGEAECPPCIPPPSAFLKAWVYWPGEDTEEEEDEEEDEDSDSGSDEEEGEAEASSSTPATGVFLKSWVYQPGEDTEEEEDEDSDTGSAEDEREAETSA
STPPASAFLKAWVYRPGEDTEEEEDEDVDSEDKEDDSEAALGEAESDPHPSHPDQRAHFRGWGYRPGKETEEEEAAEDWGEAEPCPFRVAIYVPGEKPPPPWAPP
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (1) 0 (1) 0 (0) 2 (5)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top