AutismKB 2.0

Evidence Details for PPP1R12B


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Basic Information Top
Gene Symbol:PPP1R12B ( FLJ40942,MGC131980,MGC87886,MYPT2 )
Gene Full Name: protein phosphatase 1, regulatory (inhibitor) subunit 12B
Band: 1q32.1
Quick LinksEntrez ID:4660; OMIM: 603768; Uniprot ID:MYPT2_HUMAN; ENSEMBL ID: ENSG00000077157; HGNC ID: 7619
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP1R12B|4660|nucleotide
ATGGCGGAACTGGAGCACCTAGGAGGGAAGCGGGCAGAGTCGGCGCGAATGCGGCGGGCAGAGCAGCTTCGGCGCTGGCGGGGCTCGCTGACAGAGCAGGAGCCT
GCGGAGCGACGAGGCGCGGGGCGGCAGCCGCTGACCAGGCGCGGGAGCCCCAGGGTCCGCTTCGAGGACGGTGCTGTCTTTCTGGCCGCCTGCTCTAGCGGGGAC
ACCGACGAGGTGAGAAAGCTTCTGGCAAGAGGTGCTGATATCAACACGGTCAACGTGGACGGCTTGACAGCCCTGCACCAGGCATGTATTGATGAAAATTTGGAC
ATGGTGAAGTTTCTGGTGGAGAACAGAGCCAATGTAAACCAGCAAGACAACGAGGGCTGGACACCCCTTCATGCAGCAGCTTCCTGTGGCTATCTCAACATAGCA
GAGTATTTCATTAATCACGGAGCCAGTGTAGGTATTGTCAATAGTGAAGGTGAAGTTCCCTCTGACCTTGCAGAAGAGCCAGCCATGAAGGATCTTCTTCTGGAG
CAAGTAAAGAAGCAAGGAGTTGATCTAGAGCAGTCAAGAAAAGAAGAAGAGCAGCAGATGTTGCAGGATGCCCGCCAGTGGCTCAACAGTGGGAAAATAGAGGAT
GTGAGGCAGGCTCGCTCAGGGGCTACAGCCCTTCATGTGGCTGCTGCCAAGGGCTACTCTGAAGTCCTCAGACTTTTAATTCAGGCTGGCTATGAACTCAATGTT
CAGGATTATGATGGCTGGACTCCCCTCCATGCTGCTGCACACTGGGGAGTGAAGGAGGCTTGCTCCATCCTGGCAGAAGCACTTTGTGACATGGATATTCGAAAT
AAACTGGGCCAGACACCATTTGATGTGGCTGATGAGGGTCTCGTGGAGCATTTGGAGTTGCTCCAGAAGAAGCAGAATGTGCTTCGAAGTGAAAAGGAGACACGG
AATAAACTCATTGAGTCAGATCTGAACAGCAAGATTCAGAGTGGGTTCTTTAAGAACAAAGAGAAGATGCTCTATGAGGAGGAGACACCTAAGTCCCAAGAAATG
GAGGAAGAAAATAAAGAATCTAGTAGCTCCAGCTCAGAGGAGGAGGAAGGTGAAGATGAAGCTTCTGAGTCAGAAACTGAGAAGGAGGCAGATAAAAAGCCAGAA
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>PPP1R12B|4660|protein
MAELEHLGGKRAESARMRRAEQLRRWRGSLTEQEPAERRGAGRQPLTRRGSPRVRFEDGAVFLAACSSGDTDEVRKLLARGADINTVNVDGLTALHQACIDENLD
MVKFLVENRANVNQQDNEGWTPLHAAASCGYLNIAEYFINHGASVGIVNSEGEVPSDLAEEPAMKDLLLEQVKKQGVDLEQSRKEEEQQMLQDARQWLNSGKIED
VRQARSGATALHVAAAKGYSEVLRLLIQAGYELNVQDYDGWTPLHAAAHWGVKEACSILAEALCDMDIRNKLGQTPFDVADEGLVEHLELLQKKQNVLRSEKETR
NKLIESDLNSKIQSGFFKNKEKMLYEEETPKSQEMEEENKESSSSSSEEEEGEDEASESETEKEADKKPEAFVNHSNSESKSSITEQIPAPAQNTFSASSARRFS
SGLFNKPEEPKDESPSSWRLGLRKTGSHNMLSEVANSREPIRDRGSSIYRSSSSPRISALLDNKDKVQFGRVWGNSKAVFFFHENSILGTNENIF
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (2)
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