AutismKB 2.0

Evidence Details for AATF


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Basic Information Top
Gene Symbol:AATF ( CHE-1,CHE1,DED )
Gene Full Name: apoptosis antagonizing transcription factor
Band: 17q12
Quick LinksEntrez ID:26574; OMIM: 608463; Uniprot ID:AATF_HUMAN; ENSEMBL ID: ENSG00000108270; HGNC ID: 19235
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AATF|26574|nucleotide
ATGGCGGGGCCGCAGCCCCTGGCGCTGCAACTGGAACAGTTGTTGAACCCGCGACCAAGCGAGGCGGACCCTGAAGCGGACCCCGAGGAAGCCACTGCTGCCAGG
GTGATTGACAGGTTTGATGAAGGGGAAGATGGGGAAGGTGATTTCCTAGTAGTGGGTAGCATTAGAAAACTGGCATCAGCCTCCCTCTTGGACACGGACAAAAGG
TATTGCGGCAAAACCACCTCTAGAAAAGCATGGAATGAAGACCATTGGGAGCAGACTCTGCCAGGATCGTCTGATGAGGAAATATCTGATGAGGAAGGGTCTGGA
GATGAAGATTCAGAGGGACTGGGTCTGGAGGAATATGATGAGGACGACCTGGGTGCTGCTGAGGAACAGGAGTGTGGTGATCACAGGGAGAGCAAGAAGAGCAGA
AGCCACTCTGCAAAAACACCGGGCTTCAGTGTCCAGAGTATCAGTGACTTTGAGAAATTTACCAAGGGAATGGATGACCTTGGGAGCAGTGAGGAGGAGGAAGAC
GAAGAGAGTGGCATGGAAGAAGGGGATGACGCGGAAGACTCCCAAGGCGAGAGTGAGGAAGACAGGGCTGGAGATAGAAACAGTGAGGATGATGGTGTGGTGATG
ACCTTCTCTAGTGTCAAAGTTTCTGAGGAAGTGGAGAAAGGAAGAGCCGTGAAGAACCAGATAGCACTGTGGGACCAGCTCTTGGAAGGAAGGATCAAACTACAA
AAAGCTCTGTTGACCACCAACCAGCTTCCTCAACCAGATGTTTTCCCATTGTTCAAGGACAAAGGTGGCCCAGAATTTTCCAGTGCCCTGAAAAATAGTCACAAG
GCACTTAAAGCATTGTTGAGGTCATTGGTAGGTCTTCAGGAAGAGTTGCTTTTCCAGTACCCAGACACTAGATATCTAGTAGATGGGACAAAGCCCAATGCGGGA
AGTGAGGAGATTTCTAGTGAAGATGATGAGCTGGTAGAAGAGAAGAAGCAGCAACGAAGAAGGGTCCCTGCAAAGAGGAAGCTGGAGATGGAGGACTATCCCAGC
TTCATGGCAAAGCGCTTTGCCGACTTTACAGTCTACAGGAACCGCACACTTCAGAAATGGCACGATAAGACCAAACTGGCTTCTGGAAAACTGGGGAAGGGTTTT
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>AATF|26574|protein
MAGPQPLALQLEQLLNPRPSEADPEADPEEATAARVIDRFDEGEDGEGDFLVVGSIRKLASASLLDTDKRYCGKTTSRKAWNEDHWEQTLPGSSDEEISDEEGSG
DEDSEGLGLEEYDEDDLGAAEEQECGDHRESKKSRSHSAKTPGFSVQSISDFEKFTKGMDDLGSSEEEEDEESGMEEGDDAEDSQGESEEDRAGDRNSEDDGVVM
TFSSVKVSEEVEKGRAVKNQIALWDQLLEGRIKLQKALLTTNQLPQPDVFPLFKDKGGPEFSSALKNSHKALKALLRSLVGLQEELLFQYPDTRYLVDGTKPNAG
SEEISSEDDELVEEKKQQRRRVPAKRKLEMEDYPSFMAKRFADFTVYRNRTLQKWHDKTKLASGKLGKGFGAFERSILTQIDHILMDKERLLRRTQTKRSVYRVL
GKPEPAAQPVPESLPGEPEILPQAPANAHLKDLDEEIFDDDDFYHQLLRELIERKTSSLDPNDQVAMGRQWLAIQKLRSKIHKKVDRKASKGRKLRFHVLSKLLS
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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 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (5)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Roberts JL, 2014 - aCGH;FISH--autism - - - - 1 - 1
Kanduri C, 2016 Finnish -autism 83 - - - 257 288 545
Linkage Studies Top