AutismKB 2.0

Evidence Details for NUDCD3


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Basic Information Top
Gene Symbol:NUDCD3 ( KIAA1068,NudCL )
Gene Full Name: NudC domain containing 3
Band: 7p13
Quick LinksEntrez ID:23386; OMIM: 610296; Uniprot ID:NUDC3_HUMAN; ENSEMBL ID: ENSG00000015676; HGNC ID: 22208
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUDCD3|23386|nucleotide
ATGGAGACAGGGGCGGCCGAGCTGTATGACCAGGCCCTTTTGGGCATCCTGCAGCACGTGGGCAACGTCCAGGATTTCCTGCGCGTTCTCTTTGGCTTCCTCTAC
CGCAAGACAGACTTCTATCGCTTGCTGCGCCACCCATCGGACCGCATGGGCTTCCCGCCCGGGGCCGCGCAGGCCTTGGTGCTGCAGGTATTCAAAACCTTTGAC
CACATGGCCCGTCAGGATGATGAGAAGAGAAGGCAGGAACTTGAAGAGAAAATCAGAAGAAAGGAAGAGGAAGAGGCCAAGACTGTGTCAGCTGCTGCAGCTGAG
AAGGAGCCAGTCCCAGTTCCAGTCCAGGAAATAGAGATTGACTCCACCACAGAATTGGATGGGCATCAGGAAGTAGAGAAAGTGCAGCCTCCAGGCCCTGTGAAG
GAAATGGCCCATGGTTCACAGGAGGCAGAAGCTCCAGGAGCAGTTGCTGGTGCTGCTGAAGTCCCTAGGGAACCACCAATTCTTCCCAGGATTCAGGAGCAGTTC
CAGAAAAATCCCGACAGTTACAATGGTGCTGTCCGAGAGAACTACACCTGGTCACAGGACTATACTGACCTGGAGGTCAGGGTGCCAGTACCCAAGCACGTGGTG
AAGGGAAAGCAGGTCTCAGTGGCCCTTAGCAGCAGCTCCATTCGTGTGGCCATGCTGGAGGAAAATGGGGAGCGCGTCCTCATGGAAGGGAAGCTCACCCACAAG
ATCAACACTGAGAGTTCTCTCTGGAGTCTCGAGCCCGGGAAGTGCGTTTTGGTGAACCTGAGCAAGGTGGGCGAGTATTGGTGGAACGCCATCCTGGAGGGAGAA
GAGCCCATCGACATTGACAAGATCAACAAGGAGCGCTCCATGGCCACCGTGGATGAGGAGGAACAGGCGGTGTTGGACAGGCTTACCTTTGACTACCACCAGAAG
CTGCAGGGCAAGCCACAGAGCCATGAGCTGAAAGTCCATGAGATGCTGAAGAAGGGGTGGGATGCTGAAGGTTCTCCCTTCCGAGGCCAGCGATTCGACCCTGCC
ATGTTCAACATCTCCCCGGGGGCTGTGCAGTTTTAA
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>NUDCD3|23386|protein
METGAAELYDQALLGILQHVGNVQDFLRVLFGFLYRKTDFYRLLRHPSDRMGFPPGAAQALVLQVFKTFDHMARQDDEKRRQELEEKIRRKEEEEAKTVSAAAAE
KEPVPVPVQEIEIDSTTELDGHQEVEKVQPPGPVKEMAHGSQEAEAPGAVAGAAEVPREPPILPRIQEQFQKNPDSYNGAVRENYTWSQDYTDLEVRVPVPKHVV
KGKQVSVALSSSSIRVAMLEENGERVLMEGKLTHKINTESSLWSLEPGKCVLVNLSKVGEYWWNAILEGEEPIDIDKINKERSMATVDEEEQAVLDRLTFDYHQK
LQGKPQSHELKVHEMLKKGWDAEGSPFRGQRFDPAMFNISPGAVQF

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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 (1) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top