AutismKB 2.0

Evidence Details for NUDT17


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Basic Information Top
Gene Symbol:NUDT17 ( FLJ34433 )
Gene Full Name: nudix (nucleoside diphosphate linked moiety X)-type motif 17
Band: 1q21.1
Quick LinksEntrez ID:200035; OMIM: NA; Uniprot ID:NUD17_HUMAN; ENSEMBL ID: ENSG00000186364; HGNC ID: 26618
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUDT17|200035|nucleotide
ATGGCCGAGGTGCGGGTGCAGCTGCTCCTGTCCCGGCGTCCGGAGTCGGTGAGCTTCGCACGGAGTGTGTGTGGCCTCCTGGGAGCCGGACCAGGGCTCGGGACG
TGGCCCATTCACTGCAGCTTGAAGCGAGGACGGCTTGTCCTCTCGAGCAGGCCCTTCCCAGGCGCCTCCGCTAGGCTTCCGCTCCAGCGACCCCCTTTCTGCCCT
TTTGCGGCCCTGGAGGAGCGGCCCAGGGTCCCTGGGGCTGAGCTGCCCACAGATCGAGGTGTGGACCTGGGTGTGGCCGTCATTCTGCAGTCCAGCGACAAGACT
GTCTTGCTAACCCGAAGGGCACGCACCCTGAGCGTTTCCCCCAACCTCTGGGTACCCCCGGGTGGGCACGTGGAACTTGAGGAGGAGCTGCTGGACGGAGGGCTT
CGAGAACTTTGGGAGGAGAGTGGACTACACCTGCCCCAGGGCCAGTTCTCTTGGGTCCCTCTGGGTTTATGGGAGTCTGCCTACCCTCCTAGGCTGAGCTGGGGT
TTACCCAAATACCATCACATTGTTCTGTATCTACTCGTGATCTCCCAGGAATCACAGCAGCAGTTGCAGGCCCGGATCCAACCAAACCCAAATGAGGTGAGCGCC
CTTATGTGGCTGACACCAGATGTAGCTGCTGCAGTGGCTGCCGCAGAGGATGGGACAGAGACACCCGGACTTCTCCCCCAGGACCTACCACCCTCTGTCCTTGCA
GTGGAACTAGAGGAGGATGGAAGAGCCCGACCTCTGGTCCTGCACATGTCCACCCTCCTGCGGATGATCCCAACCATGGCAGAGGACAAAGAGAGAGTCAGCACT
GGAACCAAGTTTGCCCTCAAGCTCTGGCTGCAACATCTGGGCAGAACACCCCCACCGTGTAAAAGTGCAGCTTACCTGGACCCAGGGCCAGCAAAGGAAGAATGG
AACATGGACCCTCTTCCCCCAAACCAGGGGTCTGGAAAGTGA

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>NUDT17|200035|protein
MAEVRVQLLLSRRPESVSFARSVCGLLGAGPGLGTWPIHCSLKRGRLVLSSRPFPGASARLPLQRPPFCPFAALEERPRVPGAELPTDRGVDLGVAVILQSSDKT
VLLTRRARTLSVSPNLWVPPGGHVELEEELLDGGLRELWEESGLHLPQGQFSWVPLGLWESAYPPRLSWGLPKYHHIVLYLLVISQESQQQLQARIQPNPNEVSA
LMWLTPDVAAAVAAAEDGTETPGLLPQDLPPSVLAVELEEDGRARPLVLHMSTLLRMIPTMAEDKERVSTGTKFALKLWLQHLGRTPPPCKSAAYLDPGPAKEEW
NMDPLPPNQGSGK

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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top