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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018