AutismKB 2.0

Evidence Details for EP400


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Basic Information Top
Gene Symbol:EP400 ( CAGH32,DKFZP434I225,FLJ42018,FLJ45115,P400,TNRC12 )
Gene Full Name: E1A binding protein p400
Band: 12q24.33
Quick LinksEntrez ID:57634; OMIM: 606265; Uniprot ID:EP400_HUMAN; ENSEMBL ID: ENSG00000183495; HGNC ID: 11958
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EP400|57634|nucleotide
ATGCACCATGGCACTGGCCCCCAGAACGTCCAGCATCAGCTGCAGAGGTCCAGGGCCTGCCCTGGCAGCGAGGGTGAGGAGCAGCCGGCCCACCCCAACCCACCC
CCGTCCCCCGCAGCTCCCTTCGCTCCCTCAGCAAGCCCGTCGGCACCCCAGTCTCCCAGTTATCAAATACAGCAGCTGATGAATAGGAGCCCTGCAACCGGGCAG
AACGTGAACATCACCCTGCAGAGCGTGGGCCCTGTCGTCGGGGGAAACCAGCAGATCACACTGGCCCCACTGCCGCTCCCCAGCCCCACCTCTCCAGGCTTCCAG
TTCAGCGCTCAGCCTCGGCGGTTTGAGCATGGGTCTCCATCATACATTCAGGTCACGTCCCCCTTGTCCCAGCAGGTCCAGACCCAGAGTCCCACGCAGCCCAGT
CCGGGGCCGGGGCAGGCCTTGCAGAATGTGCGTGCAGGTGCCCCTGGCCCTGGGCTGGGCCTCTGCAGCAGCAGCCCTACAGGGGGCTTCGTGGATGCCAGCGTG
CTGGTGAGGCAGATCAGCTTGAGCCCCTCCAGTGGTGGACACTTTGTGTTTCAGGATGGGTCAGGGCTCACCCAGATCGCCCAGGGAGCCCAGGTTCAGCTCCAG
CACCCGGGTACGCCCATCACAGTCCGAGAGCGGAGACCCTCCCAGCCCCACACACAGTCAGGGGGCACCATCCACCACCTGGGACCCCAGAGCCCTGCAGCCGCG
GGTGGGGCCGGCCTGCAGCCCCTGGCCAGCCCAAGCCACATCACCACGGCTAACTTGCCACCGCAGATCAGCAGCATCATCCAGGGCCAGCTGGTTCAGCAGCAG
CAGGTGCTGCAGGGGCCGCCGCTGCCCCGGCCCCTGGGCTTCGAGAGGACACCCGGCGTGCTGCTCCCCGGGGCTGGGGGCGCAGCGGGGTTTGGGATGACGTCC
CCACCCCCGCCCACCAGCCCTTCCAGGACTGCCGTGCCCCCAGGCCTTTCCAGCCTCCCACTCACGTCTGTGGGGAACACGGGAATGAAGAAGGTTCCCAAGAAG
TTAGAGGAGATTCCCCCAGCCTCTCCGGAGATGGCACAGATGAGGAAGCAGTGCCTGGACTATCATTACCAGGAGATGCAGGCTCTGAAGGAGGTCTTCAAGGAG
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>EP400|57634|protein
MHHGTGPQNVQHQLQRSRACPGSEGEEQPAHPNPPPSPAAPFAPSASPSAPQSPSYQIQQLMNRSPATGQNVNITLQSVGPVVGGNQQITLAPLPLPSPTSPGFQ
FSAQPRRFEHGSPSYIQVTSPLSQQVQTQSPTQPSPGPGQALQNVRAGAPGPGLGLCSSSPTGGFVDASVLVRQISLSPSSGGHFVFQDGSGLTQIAQGAQVQLQ
HPGTPITVRERRPSQPHTQSGGTIHHLGPQSPAAAGGAGLQPLASPSHITTANLPPQISSIIQGQLVQQQQVLQGPPLPRPLGFERTPGVLLPGAGGAAGFGMTS
PPPPTSPSRTAVPPGLSSLPLTSVGNTGMKKVPKKLEEIPPASPEMAQMRKQCLDYHYQEMQALKEVFKEYLIELFFLQHFQGNMMDFLAFKKKHYAPLQAYLRQ
NDLDIEEEEEEEEEEEEKSEVINDEQALAGSLVAGAGSTVETDLFKRQQAMPSTGMAEQSKRPRLEVGHQGVVFQHPGADAGVPLQQLMPTAQGGMPPTPQAAQL
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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 (2) 0 (1) 0 (0) 0 (0) 2 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Asadollahi R, 2014 - CMA--NDDs - - - - 714 2528 3242
Linkage Studies Top