AutismKB 2.0

Evidence Details for EP300


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Basic Information Top
Gene Symbol:EP300 ( KAT3B,p300 )
Gene Full Name: E1A binding protein p300
Band: 22q13.2
Quick LinksEntrez ID:2033; OMIM: 602700; Uniprot ID:EP300_HUMAN; ENSEMBL ID: ENSG00000100393; HGNC ID: 3373
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EP300|2033|nucleotide
ATGGCCGAGAATGTGGTGGAACCGGGGCCGCCTTCAGCCAAGCGGCCTAAACTCTCATCTCCGGCCCTCTCGGCGTCCGCCAGCGATGGCACAGATTTTGGCTCT
CTATTTGACTTGGAGCACGACTTACCAGATGAATTAATCAACTCTACAGAATTGGGACTAACCAATGGTGGTGATATTAATCAGCTTCAGACAAGTCTTGGCATG
GTACAAGATGCAGCTTCTAAACATAAACAGCTGTCAGAATTGCTGCGATCTGGTAGTTCCCCTAACCTCAATATGGGAGTTGGTGGCCCAGGTCAAGTCATGGCC
AGCCAGGCCCAACAGAGCAGTCCTGGATTAGGTTTGATAAATAGCATGGTCAAAAGCCCAATGACACAGGCAGGCTTGACTTCTCCCAACATGGGGATGGGCACT
AGTGGACCAAATCAGGGTCCTACGCAGTCAACAGGTATGATGAACAGTCCAGTAAATCAGCCTGCCATGGGAATGAACACAGGGATGAATGCGGGCATGAATCCT
GGAATGTTGGCTGCAGGCAATGGACAAGGGATAATGCCTAATCAAGTCATGAACGGTTCAATTGGAGCAGGCCGAGGGCGACAGAATATGCAGTACCCAAACCCA
GGCATGGGAAGTGCTGGCAACTTACTGACTGAGCCTCTTCAGCAGGGCTCTCCCCAGATGGGAGGACAAACAGGATTGAGAGGCCCCCAGCCTCTTAAGATGGGA
ATGATGAACAACCCCAATCCTTATGGTTCACCATATACTCAGAATCCTGGACAGCAGATTGGAGCCAGTGGCCTTGGTCTCCAGATTCAGACAAAAACTGTACTA
TCAAATAACTTATCTCCATTTGCTATGGACAAAAAGGCAGTTCCTGGTGGAGGAATGCCCAACATGGGTCAACAGCCAGCCCCGCAGGTCCAGCAGCCAGGCCTG
GTGACTCCAGTTGCCCAAGGGATGGGTTCTGGAGCACATACAGCTGATCCAGAGAAGCGCAAGCTCATCCAGCAGCAGCTTGTTCTCCTTTTGCATGCTCACAAG
TGCCAGCGCCGGGAACAGGCCAATGGGGAAGTGAGGCAGTGCAACCTTCCCCACTGTCGCACAATGAAGAATGTCCTAAACCACATGACACACTGCCAGTCAGGC
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>EP300|2033|protein
MAENVVEPGPPSAKRPKLSSPALSASASDGTDFGSLFDLEHDLPDELINSTELGLTNGGDINQLQTSLGMVQDAASKHKQLSELLRSGSSPNLNMGVGGPGQVMA
SQAQQSSPGLGLINSMVKSPMTQAGLTSPNMGMGTSGPNQGPTQSTGMMNSPVNQPAMGMNTGMNAGMNPGMLAAGNGQGIMPNQVMNGSIGAGRGRQNMQYPNP
GMGSAGNLLTEPLQQGSPQMGGQTGLRGPQPLKMGMMNNPNPYGSPYTQNPGQQIGASGLGLQIQTKTVLSNNLSPFAMDKKAVPGGGMPNMGQQPAPQVQQPGL
VTPVAQGMGSGAHTADPEKRKLIQQQLVLLLHAHKCQRREQANGEVRQCNLPHCRTMKNVLNHMTHCQSGKSCQVAHCASSRQIISHWKNCTRHDCPVCLPLKNA
GDKRNQQPILTGAPVGLGNPSSLGVGQQSAPNLSTVSQIDPSSIERAYAALGLPYQVNQMPTQPQVQAKNQQNQQPGQSPQGMRPMSNMSASPMGVNGGVGVQTP
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top