AutismKB 2.0

Evidence Details for PPP1R1B


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Basic Information Top
Gene Symbol:PPP1R1B ( DARPP-32,DARPP32,FLJ20940 )
Gene Full Name: protein phosphatase 1, regulatory (inhibitor) subunit 1B
Band: 17q12
Quick LinksEntrez ID:84152; OMIM: 604399; Uniprot ID:PPR1B_HUMAN; ENSEMBL ID: ENSG00000131771; HGNC ID: 9287
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP1R1B|84152|nucleotide
ATGGACCCCAAGGACCGCAAGAAGATCCAGTTCTCGGTGCCCGCGCCCCCTAGCCAGCTCGACCCCCGCCAGGTGGAGATGATCCGGCGCAGGAGACCAACGCCT
GCCATGCTGTTCCGGCTCTCAGAGCACTCCTCACCAGAGGAGGAAGCCTCCCCCCACCAGAGAGCCTCAGGAGAGGGGCACCATCTCAAGTCGAAGAGACCCAAC
CCCTGTGCCTACACACCACCTTCGCTGAAAGCTGTGCAGCGCATTGCTGAGTCTCACCTGCAGTCTATCAGCAATTTGAATGAGAACCAGGCCTCAGAGGAGGAG
GATGAGCTGGGGGAGCTTCGGGAGCTGGGTTATCCAAGAGAGGAAGATGAGGAGGAAGAGGAGGATGATGAAGAAGAGGAAGAAGAAGAGGACAGCCAGGCTGAA
GTCCTGAAGGTCATCAGGCAGTCTGCTGGGCAAAAGACAACCTGTGGCCAGGGTCTGGAAGGGCCCTGGGAGCGCCCACCCCCTCTGGATGAGTCCGAGAGAGAT
GGAGGCTCTGAGGACCAAGTGGAAGACCCAGCACTAAGTGAGCCTGGGGAGGAACCTCAGCGCCCTTCCCCCTCTGAGCCTGGCACATAG





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>PPP1R1B|84152|protein
MDPKDRKKIQFSVPAPPSQLDPRQVEMIRRRRPTPAMLFRLSEHSSPEEEASPHQRASGEGHHLKSKRPNPCAYTPPSLKAVQRIAESHLQSISNLNENQASEEE
DELGELRELGYPREEDEEEEEDDEEEEEEEDSQAEVLKVIRQSAGQKTTCGQGLEGPWERPPPLDESERDGGSEDQVEDPALSEPGEEPQRPSPSEPGT



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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top