AutismKB 2.0

Evidence Details for PNKP


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Basic Information Top
Gene Symbol:PNKP ( MCSZ,PNK )
Gene Full Name: polynucleotide kinase 3'-phosphatase
Band: 19q13.33
Quick LinksEntrez ID:11284; OMIM: 605610; Uniprot ID:PNKP_HUMAN; ENSEMBL ID: ENSG00000039650; HGNC ID: 9154
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PNKP|11284|nucleotide
ATGGGCGAGGTGGAGGCCCCGGGCCGCTTGTGGCTCGAGAGCCCCCCTGGGGGAGCGCCCCCCATCTTCCTGCCCTCGGACGGGCAAGCCCTGGTCCTGGGCAGG
GGACCCCTGACCCAGGTTACGGACCGGAAGTGCTCCAGAACTCAAGTGGAGCTGGTCGCAGATCCTGAGACCCGGACAGTGGCAGTGAAACAGCTGGGAGTTAAC
CCCTCAACTACCGGGACCCAGGAGTTGAAGCCGGGGTTGGAGGGCTCTCTGGGGGTGGGGGACACACTGTATTTGGTCAATGGCCTCCACCCACTGACCCTGCGC
TGGGAAGAGACCCGCACACCAGAATCCCAGCCAGATACTCCGCCTGGCACCCCTCTGGTGTCCCAAGATGAGAAGAGAGATGCTGAGCTGCCGAAGAAGCGTATG
CGGAAGTCAAACCCCGGCTGGGAGAACTTGGAGAAGTTGCTAGTGTTCACCGCAGCTGGGGTGAAACCCCAGGGCAAGGTGGCTGGCTTTGATCTGGACGGGACG
CTCATCACCACACGCTCTGGGAAGGTCTTTCCCACTGGCCCCAGTGACTGGAGGATCTTGTACCCAGAGATTCCCCGTAAGCTCCGAGAGCTGGAAGCCGAGGGC
TACAAGCTGGTGATCTTCACCAACCAGATGAGCATCGGGCGCGGGAAGCTGCCAGCCGAGGAGTTCAAGGCCAAGGTGGAGGCTGTGGTGGAGAAGCTGGGGGTC
CCCTTCCAGGTGCTGGTGGCCACGCACGCAGGCTTGTACCGGAAGCCGGTGACGGGCATGTGGGACCATCTGCAGGAGCAGGCCAACGACGGCACGCCCATATCC
ATCGGGGACAGCATCTTTGTGGGAGACGCAGCCGGACGCCCGGCCAACTGGGCCCCGGGGCGGAAGAAGAAAGACTTCTCCTGCGCCGATCGCCTGTTTGCCCTC
AACCTTGGCCTGCCCTTCGCCACGCCTGAGGAGTTCTTTCTCAAGTGGCCAGCAGCCGGCTTCGAGCTCCCAGCCTTTGATCCGAGGACTGTCTCCCGCTCAGGG
CCTCTCTGCCTCCCCGAGTCCAGGGCCCTCCTGAGCGCCAGCCCGGAGGTGGTTGTCGCAGTGGGATTCCCTGGGGCCGGGAAGTCCACCTTTCTCAAGAAGCAC
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>PNKP|11284|protein
MGEVEAPGRLWLESPPGGAPPIFLPSDGQALVLGRGPLTQVTDRKCSRTQVELVADPETRTVAVKQLGVNPSTTGTQELKPGLEGSLGVGDTLYLVNGLHPLTLR
WEETRTPESQPDTPPGTPLVSQDEKRDAELPKKRMRKSNPGWENLEKLLVFTAAGVKPQGKVAGFDLDGTLITTRSGKVFPTGPSDWRILYPEIPRKLRELEAEG
YKLVIFTNQMSIGRGKLPAEEFKAKVEAVVEKLGVPFQVLVATHAGLYRKPVTGMWDHLQEQANDGTPISIGDSIFVGDAAGRPANWAPGRKKKDFSCADRLFAL
NLGLPFATPEEFFLKWPAAGFELPAFDPRTVSRSGPLCLPESRALLSASPEVVVAVGFPGAGKSTFLKKHLVSAGYVHVNRDTLGSWQRCVTTCETALKQGKRVA
IDNTNPDAASRARYVQCARAAGVPCRCFLFTATLEQARHNNRFREMTDSSHIPVSDMVMYGYRKQFEAPTLAEGFSAILEIPFRLWVEPRLGRLYCQFSEG
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (4)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top