AutismKB 2.0

Evidence Details for E2F4


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Basic Information Top
Gene Symbol:E2F4 ( E2F-4 )
Gene Full Name: E2F transcription factor 4, p107/p130-binding
Band: 16q22.1
Quick LinksEntrez ID:1874; OMIM: 600659; Uniprot ID:E2F4_HUMAN; ENSEMBL ID: ENSG00000205250; HGNC ID: 3118
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>E2F4|1874|nucleotide
ATGGCGGAGGCCGGGCCACAGGCGCCGCCGCCCCCGGGCACTCCAAGCCGGCACGAAAAGAGCCTGGGACTGCTCACCACCAAGTTCGTGTCCCTTCTGCAGGAG
GCCAAGGACGGCGTGCTTGACCTCAAGCTGGCAGCTGACACCCTAGCTGTACGCCAGAAGCGGCGGATTTACGACATTACCAATGTTTTGGAAGGTATCGGGCTA
ATCGAGAAAAAGTCCAAGAACAGCATCCAGTGGAAGGGTGTGGGGCCTGGCTGCAATACCCGGGAGATTGCTGACAAACTGATTGAGCTCAAGGCAGAGATCGAG
GAGCTGCAGCAGCGGGAGCAAGAACTAGACCAGCACAAGGTGTGGGTGCAGCAGAGCATCCGGAACGTCACAGAGGACGTGCAGAACAGCTGTTTGGCCTACGTC
ACTCATGAGGACATCTGCAGATGCTTTGCTGGAGATACCCTCTTGGCCATCCGGGCCCCATCAGGCACCAGCCTGGAGGTGCCCATCCCAGAGGGTCTCAATGGG
CAGAAGAAGTACCAGATTCACCTGAAGAGTGTGAGTGGTCCCATTGAGGTTCTGCTGGTGAACAAGGAGGCATGGAGCTCACCCCCTGTGGCTGTGCCTGTGCCA
CCACCTGAAGATTTGCTCCAGAGCCCATCTGCTGTTTCTACACCTCCACCTCTGCCCAAGCCTGCCCTAGCCCAGTCCCAGGAAGCCTCACGTCCAAATAGTCCT
CAGCTCACTCCCACTGCTGTCCCTGGCAGTGCAGAAGTCCAGGGAATGGCTGGCCCAGCAGCTGAGATCACAGTGAGTGGCGGCCCTGGGACTGATAGCAAGGAC
AGTGGTGAGCTCAGTTCACTCCCACTGGGCCCAACAACACTGGACACCCGGCCACTGCAGTCTTCTGCCCTGCTGGACAGCAGCAGCAGCAGCAGCAGCAGCAGC
AGCAGCAGCAGCAACAGTAACAGCAGCAGTTCGTCCGGACCCAACCCTTCTACCTCCTTTGAGCCCATCAAGGCAGACCCCACAGGTGTTTTGGAACTCCCCAAA
GAGCTGTCAGAAATCTTTGATCCCACACGAGAGTGCATGAGCTCGGAGCTGCTGGAGGAGTTGATGTCCTCAGAAGTGTTTGCCCCTCTGCTTCGTCTTTCTCCA
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>E2F4|1874|protein
MAEAGPQAPPPPGTPSRHEKSLGLLTTKFVSLLQEAKDGVLDLKLAADTLAVRQKRRIYDITNVLEGIGLIEKKSKNSIQWKGVGPGCNTREIADKLIELKAEIE
ELQQREQELDQHKVWVQQSIRNVTEDVQNSCLAYVTHEDICRCFAGDTLLAIRAPSGTSLEVPIPEGLNGQKKYQIHLKSVSGPIEVLLVNKEAWSSPPVAVPVP
PPEDLLQSPSAVSTPPPLPKPALAQSQEASRPNSPQLTPTAVPGSAEVQGMAGPAAEITVSGGPGTDSKDSGELSSLPLGPTTLDTRPLQSSALLDSSSSSSSSS
SSSSNSNSSSSSGPNPSTSFEPIKADPTGVLELPKELSEIFDPTRECMSSELLEELMSSEVFAPLLRLSPPPGDHDYIYNLDESEGVCDLFDVPVLNL

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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top