AutismKB 2.0

Evidence Details for PCM1


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Basic Information Top
Gene Symbol:PCM1 ( PTC4 )
Gene Full Name: pericentriolar material 1
Band: 8p22
Quick LinksEntrez ID:5108; OMIM: 600299; Uniprot ID:PCM1_HUMAN; ENSEMBL ID: ENSG00000078674; HGNC ID: 8727
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCM1|5108|nucleotide
ATGGCCACAGGAGGAGGTCCCTTTGAAGATGGCATGAATGATCAGGATTTACCAAACTGGAGTAATGAGAATGTTGATGACAGGCTCAACAATATGGATTGGGGT
GCCCAACAGAAGAAAGCAAATAGATCATCAGAAAAGAATAAGAAAAAGTTTGGTGTAGAAAGTGATAAAAGAGTAACCAATGATATTTCTCCGGAGTCGTCACCA
GGAGTTGGAAGGCGAAGAACAAAGACTCCACATACGTTCCCACACAGTAGATACATGAGTCAGATGTCTGTCCCAGAGCAGGCAGAATTAGAGAAACTGAAACAG
CGGATAAACTTCAGTGATTTAGATCAGAGAAGCATTGGAAGTGATTCCCAAGGTAGAGCAACAGCTGCTAACAACAAACGTCAGCTTAGTGAAAACCGAAAGCCC
TTCAACTTTTTGCCTATGCAGATTAATACTAACAAGAGCAAAGATGCATCTACAAGTCCCCCAAACAGAGAAACGATTGGATCAGCACAGTGTAAAGAGTTGTTT
GCTTCTGCTTTAAGTAATGACCTCTTGCAAAACTGTCAGGTGTCTGAAGAAGATGGGAGGGGAGAACCTGCAATGGAGAGCAGCCAGATTGTAAGCAGGCTTGTT
CAAATTCGCGATTATATTACTAAAGCTAGTTCCATGCGGGAAGATCTTGTAGAGAAAAATGAGAGATCTGCTAATGTTGAGCGCCTTACTCATCTAATAGATCAC
CTTAAAGAACAAGAGAAGTCATATATGAAATTTCTTAAAAAAATCCTTGCCAGAGATCCTCAGCAGGAGCCTATGGAAGAGATAGAAAATTTGAAGAAACAACAT
GATTTATTAAAAAGAATGTTACAACAGCAGGAGCAACTAAGAGCTCTACAGGGACGGCAGGCTGCACTTCTAGCTCTGCAACATAAAGCAGAGCAAGCTATTGCA
GTGATGGATGATTCTGTTGTTGCAGAAACTGCAGGTAGCTTATCTGGCGTCAGTATCACATCTGAACTAAATGAAGAATTGAATGACTTAATTCAGCGTTTTCAT
AATCAGCTTCGTGATTCTCAGCCTCCAGCTGTTCCAGACAATAGAAGACAGGCAGAAAGTCTTTCATTAACTAGGGAGGTTTCCCAGAGCAGGAAACCATCAGCT
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>PCM1|5108|protein
MATGGGPFEDGMNDQDLPNWSNENVDDRLNNMDWGAQQKKANRSSEKNKKKFGVESDKRVTNDISPESSPGVGRRRTKTPHTFPHSRYMSQMSVPEQAELEKLKQ
RINFSDLDQRSIGSDSQGRATAANNKRQLSENRKPFNFLPMQINTNKSKDASTSPPNRETIGSAQCKELFASALSNDLLQNCQVSEEDGRGEPAMESSQIVSRLV
QIRDYITKASSMREDLVEKNERSANVERLTHLIDHLKEQEKSYMKFLKKILARDPQQEPMEEIENLKKQHDLLKRMLQQQEQLRALQGRQAALLALQHKAEQAIA
VMDDSVVAETAGSLSGVSITSELNEELNDLIQRFHNQLRDSQPPAVPDNRRQAESLSLTREVSQSRKPSASERLPDEKVELFSKMRVLQEKKQKMDKLLGELHTL
RDQHLNNSSSSPQRSVDQRSTSAPSASVGLAPVVNGESNSLTSSVPYPTASLVSQNESENEGHLNPSEKLQKLNEVRKRLNELRELVHYYEQTSDMMTDAVNENR
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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) 1 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top