AutismKB 2.0

Evidence Details for NUDT4


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Basic Information Top
Gene Symbol:NUDT4 ( DIPP2,DIPP2alpha,DIPP2beta,DKFZp686I1281,KIAA0487 )
Gene Full Name: nudix (nucleoside diphosphate linked moiety X)-type motif 4
Band: 12q22
Quick LinksEntrez ID:11163; OMIM: 609229; Uniprot ID:NUDT4_HUMAN; ENSEMBL ID: ENSG00000173598; HGNC ID: 8051
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUDT4|11163|nucleotide
ATGATGAAGTTCAAGCCCAACCAGACGCGGACCTACGACCGCGAGGGCTTCAAGAAGCGGGCGGCGTGCCTGTGCTTCCGGAGCGAGCAGGAGGACGAGGTGCTG
CTGGTGAGTAGCAGCCGGTACCCAGACCAGTGGATTGTCCCAGGAGGAGGAATGGAACCCGAGGAGGAACCTGGCGGTGCTGCCGTGAGGGAAGTTTATGAGGAG
GCTGGAGTCAAAGGAAAACTAGGCAGACTTCTGGGCATATTTGAGAACCAAGACCGAAAGCACAGAACATATGTTTATGTTCTAACAGTCACTGAAATATTAGAA
GATTGGGAAGATTCTGTTAATATTGGAAGGAAGAGAGAGTGGTTCAAAGTAGAAGATGCTATCAAAGTTCTCCAGTGTCATAAACCTGTACATGCAGAGTATCTG
GAAAAGCTAAAGCTGGGTTGTTCCCCAGCCAATGGAAATTCTACAGTCCCTTCCCTTCCGGATAATAATGCCTTGTTTGTAACCGCTGCACAGACCTCTGGGTTG
CCATCTAGTGTAAGATAG





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>NUDT4|11163|protein
MMKFKPNQTRTYDREGFKKRAACLCFRSEQEDEVLLVSSSRYPDQWIVPGGGMEPEEEPGGAAVREVYEEAGVKGKLGRLLGIFENQDRKHRTYVYVLTVTEILE
DWEDSVNIGRKREWFKVEDAIKVLQCHKPVHAEYLEKLKLGCSPANGNSTVPSLPDNNALFVTAAQTSGLPSSVR



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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 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top