Evidence Details for AATF


Gene Symbol: | AATF ( CHE-1,CHE1,DED ) |
---|---|
Gene Full Name: | apoptosis antagonizing transcription factor |
Band: | 17q12 |
Quick Links | Entrez ID:26574; OMIM: 608463; Uniprot ID:AATF_HUMAN; ENSEMBL ID: ENSG00000108270; HGNC ID: 19235 |
Relate to Another Database: | SFARIGene; denovo-db |


>AATF|26574|nucleotide
ATGGCGGGGCCGCAGCCCCTGGCGCTGCAACTGGAACAGTTGTTGAACCCGCGACCAAGCGAGGCGGACCCTGAAGCGGACCCCGAGGAAGCCACTGCTGCCAGG
GTGATTGACAGGTTTGATGAAGGGGAAGATGGGGAAGGTGATTTCCTAGTAGTGGGTAGCATTAGAAAACTGGCATCAGCCTCCCTCTTGGACACGGACAAAAGG
TATTGCGGCAAAACCACCTCTAGAAAAGCATGGAATGAAGACCATTGGGAGCAGACTCTGCCAGGATCGTCTGATGAGGAAATATCTGATGAGGAAGGGTCTGGA
GATGAAGATTCAGAGGGACTGGGTCTGGAGGAATATGATGAGGACGACCTGGGTGCTGCTGAGGAACAGGAGTGTGGTGATCACAGGGAGAGCAAGAAGAGCAGA
AGCCACTCTGCAAAAACACCGGGCTTCAGTGTCCAGAGTATCAGTGACTTTGAGAAATTTACCAAGGGAATGGATGACCTTGGGAGCAGTGAGGAGGAGGAAGAC
GAAGAGAGTGGCATGGAAGAAGGGGATGACGCGGAAGACTCCCAAGGCGAGAGTGAGGAAGACAGGGCTGGAGATAGAAACAGTGAGGATGATGGTGTGGTGATG
ACCTTCTCTAGTGTCAAAGTTTCTGAGGAAGTGGAGAAAGGAAGAGCCGTGAAGAACCAGATAGCACTGTGGGACCAGCTCTTGGAAGGAAGGATCAAACTACAA
AAAGCTCTGTTGACCACCAACCAGCTTCCTCAACCAGATGTTTTCCCATTGTTCAAGGACAAAGGTGGCCCAGAATTTTCCAGTGCCCTGAAAAATAGTCACAAG
GCACTTAAAGCATTGTTGAGGTCATTGGTAGGTCTTCAGGAAGAGTTGCTTTTCCAGTACCCAGACACTAGATATCTAGTAGATGGGACAAAGCCCAATGCGGGA
AGTGAGGAGATTTCTAGTGAAGATGATGAGCTGGTAGAAGAGAAGAAGCAGCAACGAAGAAGGGTCCCTGCAAAGAGGAAGCTGGAGATGGAGGACTATCCCAGC
TTCATGGCAAAGCGCTTTGCCGACTTTACAGTCTACAGGAACCGCACACTTCAGAAATGGCACGATAAGACCAAACTGGCTTCTGGAAAACTGGGGAAGGGTTTT
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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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MAGPQPLALQLEQLLNPRPSEADPEADPEEATAARVIDRFDEGEDGEGDFLVVGSIRKLASASLLDTDKRYCGKTTSRKAWNEDHWEQTLPGSSDEEISDEEGSG
DEDSEGLGLEEYDEDDLGAAEEQECGDHRESKKSRSHSAKTPGFSVQSISDFEKFTKGMDDLGSSEEEEDEESGMEEGDDAEDSQGESEEDRAGDRNSEDDGVVM
TFSSVKVSEEVEKGRAVKNQIALWDQLLEGRIKLQKALLTTNQLPQPDVFPLFKDKGGPEFSSALKNSHKALKALLRSLVGLQEELLFQYPDTRYLVDGTKPNAG
SEEISSEDDELVEEKKQQRRRVPAKRKLEMEDYPSFMAKRFADFTVYRNRTLQKWHDKTKLASGKLGKGFGAFERSILTQIDHILMDKERLLRRTQTKRSVYRVL
GKPEPAAQPVPESLPGEPEILPQAPANAHLKDLDEEIFDDDDFYHQLLRELIERKTSSLDPNDQVAMGRQWLAIQKLRSKIHKKVDRKASKGRKLRFHVLSKLLS
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Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) |






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 |










Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |




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