AutismKB 2.0

Evidence Details for PLEKHM1


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Basic Information Top
Gene Symbol:PLEKHM1 ( AP162,B2,KIAA0356,OPTB6 )
Gene Full Name: pleckstrin homology domain containing, family M (with RUN domain) member 1
Band: 17q21.31
Quick LinksEntrez ID:9842; OMIM: 611466; Uniprot ID:PKHM1_HUMAN; ENSEMBL ID: ENSG00000225190; HGNC ID: 29017
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHM1|9842|nucleotide
ATGCTTTCAGTGGTGGAGAATGGACTGGACCCCCAGGCTGCCATCCCGGTCATCAAGAAGAAGCTGGTGGGATCCGTGAAGGCCTTGCAGAAGCAGTACGTGTCC
CTGGACACGGTGGTCACTAGTGAAGACGGAGATGCCAACACCATGTGCAGCGCCCTGGAGGCCGTATTTATCCATGGCCTGCACGCCAAGCACATCCGAGCTGAG
GCCGGAGGAAAAAGGAAGAAAAGTGCCCACCAGAAGCCTCTGCCCCAGCCTGTCTTCTGGCCCCTCCTGAAAGCTGTCACCCACAAACACATCATCTCAGAGTTG
GAGCACCTGACGTTTGTCAACACGGATGTGGGCCGCTGCCGGGCATGGCTGCGGCTGGCCCTGAACGATGGCCTGATGGAGTGCTACCTGAAGCTGCTGCTGCAG
GAGCAGGCCCGCTTGCATGAGTACTACCAGCCCACCGCCCTGCTCCGGGATGCTGAGGAGGGCGAGTTCCTCCTTAGCTTCCTGCAGGGCCTCACGTCCTTGTCC
TTCGAACTCTCCTACAAGTCTGCCATCTTAAATGAGTGGACGCTCACCCCATTGGCCCTGTCTGGGCTTTGCCCGCTTTCTGAGCTGGACCCTCTCTCTACCTCT
GGTGCAGAACTACAGCGGAAGGAATCTCTGGATTCCATTTCCCATTCTTCAGGCTCTGAAGACATCGAAGTCCATCACTCGGGCCATAAGATACGGAGGAACCAG
AAGCTGACTGCCTCCTCCCTCAGCCTGGACACGGCCAGTTCATCCCAGCTGTCCTGCAGCCTAAACTCTGATAGCTGCTTACTCCAAGAGAATGGCTCCAAGAGT
CCAGACCATTGCGAGGAGCCCATGTCCTGTGACTCAGACCTGGGCACAGCAAATGCTGAGGACTCAGACCGGTCTCTGCAAGAGGTATTGTTGGAATTCAGCAAA
GCCCAGGTAAACTCTGTGCCAACCAACGGACTGAGCCAAGAAACAGAGATCCCCACACCACAGGCCTCGCTCTCCCTCCATGGCCTCAACACCAGCACATACCTG
CACTGTGAGGCACCTGCAGAGCCCCTTCCTGCCCAGGCAGCCTCTGGAACTCAAGATGGTGTCCACGTGCAGGAGCCGCGTCCCCAGGCGCCCAGCCCCCTGGAC
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>PLEKHM1|9842|protein
MLSVVENGLDPQAAIPVIKKKLVGSVKALQKQYVSLDTVVTSEDGDANTMCSALEAVFIHGLHAKHIRAEAGGKRKKSAHQKPLPQPVFWPLLKAVTHKHIISEL
EHLTFVNTDVGRCRAWLRLALNDGLMECYLKLLLQEQARLHEYYQPTALLRDAEEGEFLLSFLQGLTSLSFELSYKSAILNEWTLTPLALSGLCPLSELDPLSTS
GAELQRKESLDSISHSSGSEDIEVHHSGHKIRRNQKLTASSLSLDTASSSQLSCSLNSDSCLLQENGSKSPDHCEEPMSCDSDLGTANAEDSDRSLQEVLLEFSK
AQVNSVPTNGLSQETEIPTPQASLSLHGLNTSTYLHCEAPAEPLPAQAASGTQDGVHVQEPRPQAPSPLDLQQPVESTSGQQPSSTVSETAREVGQGNGLQKAQA
HDGAGLKLVVSSPTSPKNKSWISEDDFYRPSREQPLESASDHPIASYRGTPGSRPGLHRHFSQEPRKNCSLGALDQACVPSPGRRQAQAAPSQGHKSFRVVHRRQ
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top