AutismKB 2.0

Evidence Details for PHLPP1


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Basic Information Top
Gene Symbol:PHLPP1 ( MGC161555,PHLPP,PLEKHE1,SCOP )
Gene Full Name: PH domain and leucine rich repeat protein phosphatase 1
Band: 18q21.33
Quick LinksEntrez ID:23239; OMIM: 609396; Uniprot ID:PHLP1_HUMAN; ENSEMBL ID: ENSG00000081913; HGNC ID: 20610
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHLPP1|23239|nucleotide
ATGGAGCCCGCCGCCGCGGCCACGGTACAGCGACTCCCCGAGCTCGGCAGGGAGGACCGAGCTTCGGCTCCGGCGGCCGCCGCTGCGGCAGCAGCAGCAGCAGCG
GCGGCCGCGGCGGCTCTGGCGGCGGCGGCCGGGGGCGGCCGGAGTCCGGAGCCCGCGCTGACCCCGGCGGCCCCGAGCGGCGGGAACGGCAGCGGCAGCGGGGCG
CGGGAAGAGGCCCCAGGCGAGGCGCCGCCGGGGCCGCTGCCGGGCAGAGCGGGGGGTGCCGGGCGCAGGAGGCGGCGCGGGGCGCCCCAGCCCATTGCCGGCGGG
GCTGCCCCCGTACCCGGGGCCGGCGGCGGCGCCAACTCCCTCCTGCTGAGGAGAGGGCGGCTGAAGAGGAATCTGTCCGCGGCCGCCGCGGCCGCCTCCTCGTCG
TCGTCGTCCTCGGCCGCTGCTGCCTCGCACTCCCCCGGCGCTGCCGGCCTCCCCGCCTCCTGCTCGGCCTCGGCGTCGCTGTGCACCCGGAGCCTGGACAGGAAG
ACGCTGCTTCTGAAGCACCGGCAGACGCTGCAGCTGCAGCCGTCGGACCGGGACTGGGTGAGGCACCAGCTCCAGCGCGGCTGCGTGCACGTCTTCGACCGCCAC
ATGGCCTCGACCTACCTGCGCCCGGTGCTCTGCACACTGGACACCACGGCCGGCGAGGTGGCCGCCCGCCTGCTGCAGCTGGGCCACAAAGGCGGCGGCGTGGTG
AAGGTGCTGGGCCAGGGGCCCGGAGCCGCCGCCGCCCGGGAGCCCGCTGAACCGCCCCCCGAGGCCGGCCCCCGGCTGGCGCCCCCGGAGCCGCGGGACTCGGAG
GTACCGCCCGCGAGGAGCGCGCCGGGTGCCTTCGGGGGGCCTCCGCGCGCGCCCCCCGCCGACCTACCCCTGCCCGTCGGCGGCCCGGGCGGGTGGTCGCGCCGC
GCCAGCCCAGCGCCCTCGGACTCCAGCCCCGGCGAGCCGTTCGTTGGGGGCCCTGTCTCTTCGCCCCGCGCCCCACGGCCTGTGGTCTCCGACACCGAGAGCTTC
AGTCTGAGTCCCAGCGCCGAGAGCGTGTCTGACCGGTTGGACCCCTACAGCAGCGGCGGCGGCTCCTCGTCGTCGTCGGAAGAGCTCGAGGCCGACGCAGCCTCG
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>PHLPP1|23239|protein
MEPAAAATVQRLPELGREDRASAPAAAAAAAAAAAAAAAALAAAAGGGRSPEPALTPAAPSGGNGSGSGAREEAPGEAPPGPLPGRAGGAGRRRRRGAPQPIAGG
AAPVPGAGGGANSLLLRRGRLKRNLSAAAAAASSSSSSSAAAASHSPGAAGLPASCSASASLCTRSLDRKTLLLKHRQTLQLQPSDRDWVRHQLQRGCVHVFDRH
MASTYLRPVLCTLDTTAGEVAARLLQLGHKGGGVVKVLGQGPGAAAAREPAEPPPEAGPRLAPPEPRDSEVPPARSAPGAFGGPPRAPPADLPLPVGGPGGWSRR
ASPAPSDSSPGEPFVGGPVSSPRAPRPVVSDTESFSLSPSAESVSDRLDPYSSGGGSSSSSEELEADAASAPTGVPGQPRRPGHPAQPLPLPQTASSPQPQQKAP
RAIDSPGGAVREGSCEEKAAAAVAPGGLQSTPGRSGVTAEKAPPPPPPPTLYVQLHGETTRRLEAEEKPLQIQNDYLFQLGFGELWRVQEEGMDSEIGCLIRFYA
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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 - - - - -
Linkage Studies Top