AutismKB 2.0

Evidence Details for PLEKHA8


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Basic Information Top
Gene Symbol:PLEKHA8 ( DKFZp313M1034,DKFZp686J09164,FAPP2,MGC3358 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
Band: 7p14.3
Quick LinksEntrez ID:84725; OMIM: 608639; Uniprot ID:PKHA8_HUMAN; ENSEMBL ID: ENSG00000106086; HGNC ID: 30037
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHA8|84725|nucleotide
ATGGAGGGGGTGCTGTACAAGTGGACCAACTATCTGAGCGGTTGGCAGCCTCGATGGTTCCTTCTCTGTGGGGGAATATTGTCCTATTATGATTCTCCTGAAGAT
GCCTGGAAAGGTTGCAAAGGGAGCATACAAATGGCAGTCTGTGAAATTCAAGTTCATTCTGTAGATAATACACGCATGGACCTGATAATCCCTGGGGAACAGTAT
TTCTACCTGAAGGCCAGAAGTGTGGCTGAAAGACAGCGGTGGCTGGTGGCCCTGGGATCAGCCAAGGCTTGCCTGACTGACAGTAGGACCCAGAAGGAGAAAGAG
TTTGCTGAAAACACTGAAAACTTGAAAACCAAAATGTCAGAACTAAGACTCTACTGTGACCTCCTTGTTCAGCAAGTAGATAAAACAAAAGAAGTGACCACAACT
GGTGTGTCCAATTCTGAGGAGGGAATTGATGTGGGAACTTTGCTGAAATCAACCTGTAATACTTTTCTGAAGACCTTGGAAGAATGCATGCAGATCGCAAATGCA
GCCTTCACCTCTGAGCTGCTCTACCGCACTCCACCAGGATCACCTCAGCTGGCCATGCTCAAGTCCAGCAAGATGAAACATCCTATTATACCAATTCATAATTCA
TTGGAAAGGCAAATGGAGTTGAGCACTTGTGAAAATGGATCTTTAAATATGGAAATAAATGGTGAGGAAGAAATCCTAATGAAAAATAAGAATTCCTTATATTTG
AAATCTGCAGAGATAGACTGCAGCATATCAAGTGAGGAAAATACAGATGATAATATAACAGTCCAAGGTGAAATAAGGAAGGAAGATGGAATGGAAAACCTGAAA
AATCATGACAATAACTTGACTCAGTCTGGATCAGACTCAAGTTGCTCTCCGGAATGCCTCTGGGAGGAAGGCAAAGAAGTTATCCCAACTTTCTTTAGTACCATG
AACACAAGCTTTAGTGACATTGAACTTCTGGAAGACAGTGGCATTCCCACAGAAGCATTCTTGGCATCATGTTATGCTGTGGTTCCAGTATTAGACAAACTTGGC
CCTACAGTGTTTGCTCCTGTTAAGATGGATCTTGTTGGAAATATTAAGAAAGTAAATCAGAAGTATATAACCAACAAAGAAGAGTTTACCACTCTCCAGAAGATA
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>PLEKHA8|84725|protein
MEGVLYKWTNYLSGWQPRWFLLCGGILSYYDSPEDAWKGCKGSIQMAVCEIQVHSVDNTRMDLIIPGEQYFYLKARSVAERQRWLVALGSAKACLTDSRTQKEKE
FAENTENLKTKMSELRLYCDLLVQQVDKTKEVTTTGVSNSEEGIDVGTLLKSTCNTFLKTLEECMQIANAAFTSELLYRTPPGSPQLAMLKSSKMKHPIIPIHNS
LERQMELSTCENGSLNMEINGEEEILMKNKNSLYLKSAEIDCSISSEENTDDNITVQGEIRKEDGMENLKNHDNNLTQSGSDSSCSPECLWEEGKEVIPTFFSTM
NTSFSDIELLEDSGIPTEAFLASCYAVVPVLDKLGPTVFAPVKMDLVGNIKKVNQKYITNKEEFTTLQKIVLHEVEADVAQVRNSATEALLWLKRGLKFLKGFLT
EVKNGEKDIQTALNNAYGKTLRQHHGWVVRGVFALALRAAPSYEDFVAALTVKEGDHQKEAFSIGMQRDLSLYLPAMEKQLAILDTLYEVHGLESDEVV
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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 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top