AutismKB 2.0

Evidence Details for PSKH1


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Basic Information Top
Gene Symbol:PSKH1 ( - )
Gene Full Name: protein serine kinase H1
Band: 16q22.1
Quick LinksEntrez ID:5681; OMIM: 177015; Uniprot ID:KPSH1_HUMAN; ENSEMBL ID: ENSG00000159792; HGNC ID: 9529
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PSKH1|5681|nucleotide
ATGGGCTGTGGGACAAGCAAGGTCCTTCCCGAGCCACCCAAGGATGTCCAGCTGGATCTGGTCAAGAAGGTGGAGCCCTTCAGTGGCACTAAGAGTGACGTGTAC
AAGCACTTCATCACAGAGGTGGACAGTGTTGGCCCTGTCAAAGCCGGGTTCCCAGCAGCAAGTCAGTATGCACACCCCTGCCCCGGTCCCCCGACTGCTGGCCAC
ACGGAGCCTCCCTCAGAACCACCACGCAGGGCCAGGGTAGCTAAGTACAGGGCCAAGTTTGACCCACGTGTTACAGCTAAGTATGACATCAAGGCCCTAATTGGC
CGAGGCAGCTTCAGCCGAGTGGTACGTGTAGAGCACCGGGCAACCCGGCAGCCGTATGCCATCAAGATGATTGAGACCAAGTACCGGGAGGGGCGGGAGGTGTGT
GAGTCGGAGCTGCGTGTGCTGCGTCGGGTGCGTCATGCCAACATCATCCAGCTGGTGGAGGTGTTCGAGACACAGGAGCGGGTGTACATGGTGATGGAGCTGGCC
ACTGGTGGAGAGCTCTTTGACCGCATCATTGCCAAGGGCTCCTTCACCGAGCGTGACGCCACGCGGGTGCTGCAGATGGTGCTGGATGGCGTCCGGTATCTGCAT
GCACTGGGCATCACACACCGAGACCTCAAACCTGAGAATCTGCTCTACTACCATCCGGGCACTGACTCCAAGATCATCATCACCGACTTCGGCCTGGCCAGTGCT
CGCAAGAAGGGTGATGACTGCTTGATGAAGACCACCTGTGGCACGCCTGAGTACATTGCCCCAGAAGTCCTGGTCCGCAAGCCATACACCAACTCAGTGGACATG
TGGGCGCTGGGCGTCATTGCCTACATCCTACTCAGTGGCACCATGCCGTTTGAGGATGACAACCGTACCCGGCTGTACCGGCAGATCCTCAGGGGCAAGTACAGT
TACTCTGGGGAGCCCTGGCCTAGTGTGTCCAACCTGGCCAAGGACTTCATTGACCGCCTGCTGACAGTGGACCCTGGAGCCCGTATGACTGCACTGCAGGCCCTG
AGGCACCCGTGGGTGGTGAGCATGGCTGCCTCTTCATCCATGAAGAACCTGCACCGCTCCATATCCCAGAACCTCCTTAAACGTGCCTCCTCGCGCTGCCAGAGC
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>PSKH1|5681|protein
MGCGTSKVLPEPPKDVQLDLVKKVEPFSGTKSDVYKHFITEVDSVGPVKAGFPAASQYAHPCPGPPTAGHTEPPSEPPRRARVAKYRAKFDPRVTAKYDIKALIG
RGSFSRVVRVEHRATRQPYAIKMIETKYREGREVCESELRVLRRVRHANIIQLVEVFETQERVYMVMELATGGELFDRIIAKGSFTERDATRVLQMVLDGVRYLH
ALGITHRDLKPENLLYYHPGTDSKIIITDFGLASARKKGDDCLMKTTCGTPEYIAPEVLVRKPYTNSVDMWALGVIAYILLSGTMPFEDDNRTRLYRQILRGKYS
YSGEPWPSVSNLAKDFIDRLLTVDPGARMTALQALRHPWVVSMAASSSMKNLHRSISQNLLKRASSRCQSTKSAQSTRSSRSTRSNKSRRVRERELRELNLRYQQ
QYNG
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top