AutismKB 2.0

Evidence Details for PLEKHO2


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Basic Information Top
Gene Symbol:PLEKHO2 ( DKFZp761K2312,FLJ38884,PLEKHQ1,PP1628,pp9099 )
Gene Full Name: pleckstrin homology domain containing, family O member 2
Band: 15q22.31
Quick LinksEntrez ID:80301; OMIM: NA; Uniprot ID:PKHO2_HUMAN; ENSEMBL ID: ENSG00000166839,ENSG00000241839; HGNC ID: 30026
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHO2|80301|nucleotide
ATGGAGGAGGAGGATGATCAGAAGTGTGTGGAGACTGTGGAGCTGGGCAGCTATGAGAAGTGCCAGGACCTTCGTGCCCTCCTCAAGCGAAAACACCGCTTTATC
CTGCTGCGATCCCCAGGGAACAAGGTCAGCGACATCAAATTCCAGGCACCCACCGGGGAGGAGAAGGAATCCTGGATCAAAGCCCTCAATGAAGGGATTAACCGA
GGCAAAAACAAGGCTTTCGATGAGGTAAAGGTGGACAAGAGCTGCGCCCTGGAGCATGTGACACGGGACCGGGTGCGAGGGGGCCAGCGACGCCGGCCACCAACG
AGAGTCCACCTGAAGGAGGTGGCCAGTGCAGCTTCTGACGGTCTTCTGCGCCTGGATCTTGATGTTCCGGACAGTGGGCCACCAGTGTTTGCCCCCAGCAATCAT
GTCAGTGAAGCCCAACCTCGGGAGACACCCCGGCCCCTCATGCCTCCTACCAAGCCTTTCCTAGCACCTGAGACCACCAGCCCTGGTGACAGGGTGGAGACCCCT
GTGGGGGAGAGAGCCCCAACCCCTGTCTCAGCAAGCTCTGAGGTCTCCCCTGAGAGCCAAGAGGACTCAGAGACCCCAGCAGAGGAGGACAGTGGCTCTGAGCAG
CCTCCCAACAGCGTCCTGCCTGACAAACTGAAGGTGAGCTGGGAGAACCCCAGCCCCCAGGAGGCCCCTGCTGCAGAGAGTGCAGAACCGTCCCAGGCACCCTGT
TCTGAGACTTCTGAGGCTGCCCCCAGGGAGGGTGGGAAGCCCCCTACACCCCCACCCAAGATCTTATCAGAGAAACTGAAAGCCTCCATGGGTGAGATGCAGGCT
TCTGGGCCACCTGCTCCAGGCACAGTGCAGGTCTCAGTGAATGGCATGGATGACAGTCCTGAGCCTGCCAAGCCCTCTCAGGCTGAGGGCACCCCAGGAACTCCT
CCAAAGGATGCAACAACATCCACAGCACTGCCCCCCTGGGACCTGCCACCTCAGTTCCATCCCCGCTGCTCCTCCCTTGGGGACTTGCTTGGGGAAGGCCCGCGG
CATCCCTTGCAGCCCAGGGAACGGCTATATCGGGCCCAGCTGGAGGTGAAGGTGGCCTCGGAACAGACGGAGAAACTGTTGAACAAGGTGCTGGGCAGTGAGCCG
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>PLEKHO2|80301|protein
MEEEDDQKCVETVELGSYEKCQDLRALLKRKHRFILLRSPGNKVSDIKFQAPTGEEKESWIKALNEGINRGKNKAFDEVKVDKSCALEHVTRDRVRGGQRRRPPT
RVHLKEVASAASDGLLRLDLDVPDSGPPVFAPSNHVSEAQPRETPRPLMPPTKPFLAPETTSPGDRVETPVGERAPTPVSASSEVSPESQEDSETPAEEDSGSEQ
PPNSVLPDKLKVSWENPSPQEAPAAESAEPSQAPCSETSEAAPREGGKPPTPPPKILSEKLKASMGEMQASGPPAPGTVQVSVNGMDDSPEPAKPSQAEGTPGTP
PKDATTSTALPPWDLPPQFHPRCSSLGDLLGEGPRHPLQPRERLYRAQLEVKVASEQTEKLLNKVLGSEPAPVSAETLLSQAVEQLRQATQVLQEMRDLGELSQE
APGLREKRKELVTLYRRSAP
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top