AutismKB 2.0

Evidence Details for PPP1R15B


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Basic Information Top
Gene Symbol:PPP1R15B ( CREP,FLJ14744 )
Gene Full Name: protein phosphatase 1, regulatory (inhibitor) subunit 15B
Band: 1q32.1
Quick LinksEntrez ID:84919; OMIM: 613257; Uniprot ID:PR15B_HUMAN; ENSEMBL ID: ENSG00000158615; HGNC ID: 14951
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP1R15B|84919|nucleotide
ATGGAGCCGGGGACAGGCGGATCGCGGAAACGGCTTGGCCCTCGGGCGGGCTTCCGGTTCTGGCCACCCTTTTTCCCTCGGCGATCGCAAGCAGGCTCTTCTAAG
TTCCCGACGCCTCTTGGCCCGGAAAACTCCGGGAACCCCACACTGCTTTCCTCTGCCCAGCCCGAGACTCGGGTCAGTTACTGGACGAAACTGCTCTCCCAGCTC
CTTGCGCCGCTCCCCGGATTGCTTCAGAAGGTGCTAATTTGGAGCCAACTTTTCGGTGGAATGTTTCCGACCAGATGGCTAGATTTTGCTGGAGTCTACAGCGCC
CTGAGAGCCCTGAAGGGACGGGAGAAACCAGCCGCCCCCACAGCGCAGAAATCTTTGAGTTCGCTGCAGCTCGACTCCTCAGACCCCTCGGTCACCAGTCCCCTT
GATTGGCTAGAGGAGGGGATCCACTGGCAATACTCGCCCCCAGACCTAAAATTGGAGCTTAAGGCCAAGGGAAGTGCTTTGGACCCTGCAGCACAGGCTTTTCTC
TTAGAGCAGCAGCTGTGGGGAGTGGAGCTGTTGCCCAGTAGCCTTCAATCCCGTCTGTACTCTAACCGGGAACTTGGCTCTTCGCCCTCTGGGCCTCTAAACATT
CAACGCATAGACAATTTCAGTGTGGTATCCTATTTGCTGAACCCTTCCTACCTGGACTGCTTTCCTAGGCTAGAAGTCAGCTATCAGAACAGTGATGGAAATAGC
GAGGTAGTCGGCTTCCAGACACTAACCCCAGAGAGCAGCTGCCTGAGAGAGGACCATTGTCATCCCCAGCCGCTGAGTGCAGAACTCATTCCGGCCTCGTGGCAG
GGATGTCCACCTCTTTCTACGGAAGGCCTACCAGAAATTCACCATCTTCGCATGAAACGGCTGGAATTCCTTCAACAGGCTAACAAGGGGCAAGATTTACCCACC
CCTGACCAGGATAATGGCTACCACAGCCTGGAGGAGGAACACAGCCTTCTCCGGATGGATCCAAAACACTGCAGAGATAACCCAACACAGTTTGTTCCTGCTGCT
GGAGACATTCCTGGAAACACCCAGGAATCCACTGAAGAAAAAATAGAATTATTAACTACAGAGGTTCCACTTGCTTTGGAAGAAGAGAGCCCTTCTGAGGGCTGT
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>PPP1R15B|84919|protein
MEPGTGGSRKRLGPRAGFRFWPPFFPRRSQAGSSKFPTPLGPENSGNPTLLSSAQPETRVSYWTKLLSQLLAPLPGLLQKVLIWSQLFGGMFPTRWLDFAGVYSA
LRALKGREKPAAPTAQKSLSSLQLDSSDPSVTSPLDWLEEGIHWQYSPPDLKLELKAKGSALDPAAQAFLLEQQLWGVELLPSSLQSRLYSNRELGSSPSGPLNI
QRIDNFSVVSYLLNPSYLDCFPRLEVSYQNSDGNSEVVGFQTLTPESSCLREDHCHPQPLSAELIPASWQGCPPLSTEGLPEIHHLRMKRLEFLQQANKGQDLPT
PDQDNGYHSLEEEHSLLRMDPKHCRDNPTQFVPAAGDIPGNTQESTEEKIELLTTEVPLALEEESPSEGCPSSEIPMEKEPGEGRISVVDYSYLEGDLPISARPA
CSNKLIDYILGGASSDLETSSDPEGEDWDEEAEDDGFDSDSSLSDSDLEQDPEGLHLWNSFCSVDPYNPQNFTATIQTAARIVPEEPSDSEKDLSGKSDLENSSQ
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018