AutismKB 2.0

Evidence Details for PPP1R7


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Basic Information Top
Gene Symbol:PPP1R7 ( SDS22 )
Gene Full Name: protein phosphatase 1, regulatory (inhibitor) subunit 7
Band: 2q37.3
Quick LinksEntrez ID:5510; OMIM: 602877; Uniprot ID:PP1R7_HUMAN; ENSEMBL ID: ENSG00000115685; HGNC ID: 9295
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP1R7|5510|nucleotide
ATGGCGGCGGAACGCGGCGCGGGGCAGCAACAGTCGCAGGAGATGATGGAGGTTGACAGGCGGGTCGAGTCTGAAGAATCCGGCGATGAAGAAGGGAAGAAACAC
AGCAGTGGCATCGTGGCCGACCTCAGTGAACAGAGCCTGAAGGATGGGGAGGAGCGGGGGGAGGAGGACCCAGAAGAAGAACATGAGCTGCCTGTGGACATGGAA
ACCATCAACCTGGACAGAGATGCAGAGGATGTTGATTTGAATCACTATCGCATAGGGAAGATTGAAGGATTTGAGGTACTGAAGAAAGTGAAGACTCTCTGCCTC
CGCCAAAATTTAATTAAATGCATTGAGAATCTGGAGGAGCTACAGAGTCTTCGAGAGCTGGATCTTTACGACAACCAGATCAAGAAGATTGAGAATCTGGAGGCG
CTAACAGAGCTGGAGATTCTAGATATTTCTTTTAATCTGCTGAGAAACATCGAAGGGGTTGACAAGTTGACACGACTGAAAAAACTCTTCTTGGTCAACAATAAA
ATCAGTAAAATTGAGAACTTAAGCAACTTACATCAACTACAGATGCTAGAGCTGGGATCTAACCGCATCCGGGCAATCGAAAATATCGACACCTTAACCAACCTG
GAGAGTTTGTTTTTGGGGAAAAACAAAATTACTAAACTTCAGAACCTGGATGCGCTCACCAACCTGACAGTCCTCAGTATGCAGAGCAACCGGCTGACCAAGATC
GAGGGTCTGCAGAACCTGGTGAACCTGCGGGAGCTGTACCTTAGCCACAATGGCATCGAGGTCATCGAGGGCCTGGAGAACAATAACAAACTCACGATGTTGGAC
ATTGCATCAAATAGAATCAAAAAGATTGAAAATATCAGCCATCTAACAGAGCTGCAAGAGTTCTGGATGAACGACAATCTCCTTGAGAGCTGGAGCGACCTCGAC
GAGCTGAAGGGAGCCAGGAGCCTGGAGACAGTGTACCTGGAGCGGAACCCCTTGCAGAAGGACCCCCAGTACCGGCGGAAGGTCATGCTCGCCCTCCCCTCCGTG
CGGCAGATCGATGCCACGTTCGTCAGGTTCTGA
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>PPP1R7|5510|protein
MAAERGAGQQQSQEMMEVDRRVESEESGDEEGKKHSSGIVADLSEQSLKDGEERGEEDPEEEHELPVDMETINLDRDAEDVDLNHYRIGKIEGFEVLKKVKTLCL
RQNLIKCIENLEELQSLRELDLYDNQIKKIENLEALTELEILDISFNLLRNIEGVDKLTRLKKLFLVNNKISKIENLSNLHQLQMLELGSNRIRAIENIDTLTNL
ESLFLGKNKITKLQNLDALTNLTVLSMQSNRLTKIEGLQNLVNLRELYLSHNGIEVIEGLENNNKLTMLDIASNRIKKIENISHLTELQEFWMNDNLLESWSDLD
ELKGARSLETVYLERNPLQKDPQYRRKVMLALPSVRQIDATFVRF

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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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top