AutismKB 2.0

Evidence Details for POTEH


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Basic Information Top
Gene Symbol:POTEH ( A26C3,ACTBL1,CT104.7,POTE22 )
Gene Full Name: POTE ankyrin domain family, member H
Band: 22q11.1
Quick LinksEntrez ID:23784; OMIM: 608913; Uniprot ID:POTEH_HUMAN; ENSEMBL ID: ENSG00000198062; HGNC ID: 133
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POTEH|23784|nucleotide
ATGGTGGCTGAGGCTGGTTCAATGCCGGCTGCCTCCTCTGTGAAGAAGCCATTTGGTCTCAGAAGCAAGATGGGCAAGTGGTGCCGCCACTGCTTCGCCTGGTGC
AGGGGGAGCGGCAAGAGCAACGTGGGCACTTCTGGAGACCACGACGATTCTGCTATGAAGACACTCAGGAGCAAGATGGGCAAGTGGTGCTGCCACTGCTTCCCC
TGGTGCAGGGGGAGCGGCAAGAGCAACGTGGGCACTTCTGGAGACCACGACGATTCTGCTATGAAGACACTCAGGAGCAAGATGGGCAAGTGGTGCTGCCACTGC
TTCCCCTGCTGCAGGGGGAGCGGCAAGAGCAACGTGGGCACTTCTGGAGACCACGACGACTCTGCTATGAAGACACTCAGGAGCAAGATGGGCAAGTGGTGCTGC
CACTGCTTCCCCTGCTGCAGGGGGAGCGGCAAGAACAAAGTGGGCCCTTGGGGAGACTACGACGACAGCGCTTTCATGGAGCCGAGGTACCACGTCCGTCGAGAA
GATCTGGACAAGCTCCACAGAGCTGCCTGGTGGGGTAAAGTCCCCAGAAAGGATCTCATCGTCATGCTCAAGGACACTGACATGAACAAGAAGGACAAGCAAAAG
AGGACTGCTCTACATCTGGCCTCTGCCAATGGAAATTCAGAAGTAGTAAAACTCCTGCTGGACAGACGATGTCAACTTAATATCCTTGACAACAAAAAGAGGACA
GCTCTGACAAAGGCCGTACAATGCCAGGAAGATGAATGTGCGTTAATGTTGCTGGAACATGGCACTGATCCGAATATTCCAGATGAGTATGGAAATACCGCTCTA
CACTATGCTATCTACAATGAAGATAAATTAATGGCCAAAGCACTGCTCTTATACGGTGCTGATATCGAATCAAAAAACAAGCATGGCCTCACACCACTGTTACTT
GGTGTACATGAGCAAAAACAGCAAGTGGTGAAATTTTTAATCAAGAAAAAAGCAAATTTAAATGCACTGGATAGATATGGAAGAACTGCTCTCATACTTGCTGTA
TGTTGTGGATCGGCAAGTATAGTCAGCCTTCTACTTGAGCAAAACATTGATGTATCTTCTCAAGATCTATCTGGACAGACGGCCAGAGAGTATGCTGTTTCTAGT
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>POTEH|23784|protein
MVAEAGSMPAASSVKKPFGLRSKMGKWCRHCFAWCRGSGKSNVGTSGDHDDSAMKTLRSKMGKWCCHCFPWCRGSGKSNVGTSGDHDDSAMKTLRSKMGKWCCHC
FPCCRGSGKSNVGTSGDHDDSAMKTLRSKMGKWCCHCFPCCRGSGKNKVGPWGDYDDSAFMEPRYHVRREDLDKLHRAAWWGKVPRKDLIVMLKDTDMNKKDKQK
RTALHLASANGNSEVVKLLLDRRCQLNILDNKKRTALTKAVQCQEDECALMLLEHGTDPNIPDEYGNTALHYAIYNEDKLMAKALLLYGADIESKNKHGLTPLLL
GVHEQKQQVVKFLIKKKANLNALDRYGRTALILAVCCGSASIVSLLLEQNIDVSSQDLSGQTAREYAVSSRHNVICQLLSDYKEKQILKVSSENSNPEQDLKLTS
EEESQRLKGSENSQPEEMSQEPEINKGGDRKVEEEMKKHGSTHMGFPENLTNGATADNGDDGLIPPRKSRTPESQQFPDTENEQYHSDEQNDTQKQLSEEQNTGI
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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 (1) 0 (1) 0 (0) 0 (0) 2 (5)
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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top