AutismKB 2.0

Evidence Details for DEAF1


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Basic Information Top
Gene Symbol:DEAF1 ( NUDR,SPN,ZMYND5 )
Gene Full Name: deformed epidermal autoregulatory factor 1 (Drosophila)
Band: 11p15.5
Quick LinksEntrez ID:10522; OMIM: 602635; Uniprot ID:DEAF1_HUMAN; ENSEMBL ID: ENSG00000177030; HGNC ID: 14677
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DEAF1|10522|nucleotide
ATGGAGGACTCGGACTCGGCGGCAAAGCAGCTGGGCCTGGCTGAGGCGGCGGCGGTGGCGGCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCCGCGGCAGGAGGC
GAGGCGGAGGAGCCGGTGCTGAGCAGGGACGAGGACTCGGAGGAGGACGCAGACTCGGAGGCGGAGCGGGAGACGCCGCGGGTCACGGCAGTGGCGGTGATGGCG
GCGGAGCCCGGGCACATGGACATGGGCGCCGAGGCCCTGCCCGGCCCCGACGAGGCCGCCGCTGCCGCAGCCTTCGCAGAGGTGACCACAGTGACAGTGGCCAAC
GTGGGGGCTGCTGCAGACAATGTCTTCACCACGTCTGTGGCGAACGCGGCATCCATCTCAGGACATGTTCTGTCTGGTAGGACGGCCCTTCAGATCGGGGACAGC
CTGAACACCGAAAAAGCGACACTGATTGTCGTCCACACAGATGGGAGCATCGTGGAGACCACCGGGCTGAAAGGCCCGGCAGCTCCCCTCACCCCAGGTCCTCAG
TCTCCTCCAACCCCTCTGGCTCCCGGCCAAGAAAAAGGTGGAACTAAATACAACTGGGACCCTTCTGTGTACGACAGTGAGCTGCCCGTACGGTGCCGGAACATC
AGCGGCACTCTGTACAAGAACAGGCTCGGCTCAGGCGGCCGGGGACGGTGCATCAAGCAGGGGGAGAACTGGTACAGTCCCACCGAGTTTGAGGCCATGGCAGGA
AGAGCCAGCAGTAAGGACTGGAAAAGAAGCATTCGCTACGCGGGCCGACCCTTGCAGTGCCTCATCCAGGATGGGATCTTAAACCCTCACGCTGCCTCTTGCACC
TGTGCTGCCTGCTGCGACGACATGACCTTAAGTGGCCCAGTCAGGCTTTTTGTGCCTTACAAAAGGCGCAAGAAGGAGAATGAACTGCCCACAACTCCCGTGAAG
AAGGACTCCCCCAAGAACATCACATTGCTTCCAGCCACCGCGGCTACCACCTTCACCGTGACCCCCTCGGGACAGATCACGACCTCGGGGGCACTGACCTTTGAC
CGAGCGTCCACGGTAGAGGCCACTGCTGTCATATCAGAGAGTCCGGCCCAGGGCGACGTCTTCGCAGGGGCCACAGTCCAAGAGGCCAGCGTGCAGCCCCCATGC
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>DEAF1|10522|protein
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVAN
VGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTPLAPGQEKGGTKYNWDPSVYDSELPVRCRNI
SGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVK
KDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAVISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVL
TSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHASTYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCS
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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 (2) 0 (0) 0 (0) 0 (0) 1 (3) 0 (0) 0 (1) 1 (1) 20 (7)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top