AutismKB 2.0

Evidence Details for DOM3Z


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Basic Information Top
Gene Symbol:DOM3Z ( DOM3L,NG6 )
Gene Full Name: dom-3 homolog Z (C. elegans)
Band: 6p21.3
Quick LinksEntrez ID:1797; OMIM: 605996; Uniprot ID:DOM3Z_HUMAN; ENSEMBL ID: ENSG00000204348; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DOM3Z|1797|nucleotide
ATGGATCCCAGGGGGACCAAGAGAGGAGCTGAGAAGACAGAGGTAGCTGAGCCTCGGAACAAACTACCTCGTCCAGCACCTTCTCTGCCCACAGACCCTGCCCTC
TACTCTGGGCCCTTTCCTTTCTACCGGCGCCCTTCGGAACTGGGCTGCTTCTCCCTGGATGCTCAACGCCAGTACCATGGAGATGCCCGAGCCCTGCGCTACTAT
AGCCCACCCCCCACTAACGGTCCAGGCCCCAACTTTGACCTCAGAGACGGATACCCGGATCGATACCAGCCCCGGGACGAGGAGGTCCAGGAAAGGCTGGACCAC
CTGCTGTGCTGGCTCCTGGAACACCGAGGCCGGTTGGAGGGGGGTCCAGGCTGGCTGGCAGAGGCCATAGTGACGTGGCGGGGGCACCTGACAAAACTGCTGACG
ACACCGTATGAGCGGCAGGAGGGCTGGCAGCTGGCAGCCTCCCGGTTCCAGGGAACACTATACCTGAGTGAAGTGGAGACACCGAACGCTCGGGCCCAGAGGCTT
GCTCGGCCACCGCTCCTCCGGGAGCTTATGTACATGGGATACAAATTTGAGCAGTACATGTGTGCAGACAAACCTGGAAGCTCCCCAGACCCCTCTGGGGAGGTT
AACACCAACGTGGCCTTCTGCTCTGTGCTACGCAGCCGCCTGGGAAGCCACCCTCTGCTCTTCTCAGGGGAGGTAGACTGCACAGACCCCCAAGCCCCATCCACA
CAGCCCCCAACCTGCTATGTGGAGCTCAAGACCTCCAAGGAGATGCACAGCCCTGGCCAATGGAGGAGTTTCTACAGACACAAGCTCCTGAAATGGTGGGCTCAG
TCATTCCTCCCAGGGGTCCCGAATGTTGTTGCTGGCTTCCGTAACCCAGACGGTTTTGTCTCTTCCCTCAAGACCTTTCCTACCATGAAGATGTTTGAATATGTC
AGGAATGACCGTGACGGCTGGAATCCCTCTGTGTGCATGAACTTCTGTGCCGCCTTCCTTAGCTTTGCCCAGAGCACGGTTGTCCAGGATGACCCCAGGCTCGTT
CATCTCTTCTCTTGGGAGCCTGGCGGCCCAGTCACCGTGTCTGTACACCAAGATGCACCTTACGCCTTCCTGCCCATATGGTATGTGGAAGCTATGACTCAGGAC
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>DOM3Z|1797|protein
MDPRGTKRGAEKTEVAEPRNKLPRPAPSLPTDPALYSGPFPFYRRPSELGCFSLDAQRQYHGDARALRYYSPPPTNGPGPNFDLRDGYPDRYQPRDEEVQERLDH
LLCWLLEHRGRLEGGPGWLAEAIVTWRGHLTKLLTTPYERQEGWQLAASRFQGTLYLSEVETPNARAQRLARPPLLRELMYMGYKFEQYMCADKPGSSPDPSGEV
NTNVAFCSVLRSRLGSHPLLFSGEVDCTDPQAPSTQPPTCYVELKTSKEMHSPGQWRSFYRHKLLKWWAQSFLPGVPNVVAGFRNPDGFVSSLKTFPTMKMFEYV
RNDRDGWNPSVCMNFCAAFLSFAQSTVVQDDPRLVHLFSWEPGGPVTVSVHQDAPYAFLPIWYVEAMTQDLPSPPKTPSPK

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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) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top