AutismKB 2.0

Evidence Details for EGR3


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Basic Information Top
Gene Symbol:EGR3 ( MGC138484,PILOT )
Gene Full Name: early growth response 3
Band: 8p21.3
Quick LinksEntrez ID:1960; OMIM: 602419; Uniprot ID:EGR3_HUMAN; ENSEMBL ID: ENSG00000179388; HGNC ID: 3240
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EGR3|1960|nucleotide
ATGGAGCCATGTGCGGCGTGGAGTCCCCGCGGTGGGAGAGAGAATGTAATGGACATCGGTCTGACCAACGAGAAGCCCAACCCGGAACTCTCTTACTCCGGCTCC
TTCCAGCCAGCCCCCGGCAACAAGACCGTGACCTACTTGGGAAAGTTCGCCTTCGACTCCCCTTCCAACTGGTGCCAGGACAACATCATTAGCCTCATGAGCGCC
GGCATCTTGGGGGTGCCCCCGGCTTCAGGGGCGCTCAGCACGCAGACGTCCACGGCCAGCATGGTGCAGCCACCGCAGGGTGACGTGGAGGCCATGTATCCCGCG
CTACCCCCCTACTCCAACTGCGGCGACCTCTACTCAGAGCCCGTGTCTTTCCACGACCCCCAGGGCAATCCCGGGCTCGCCTATTCCCCCCAGGATTACCAATCG
GCCAAGCCGGCGTTGGACAGCAATCTCTTCCCCATGATTCCTGACTACAACCTCTACCACCACCCCAACGACATGGGCTCCATTCCGGAGCACAAGCCCTTCCAG
GGCATGGACCCCATCCGGGTCAACCCGCCCCCTATTACCCCTCTGGAGACCATCAAGGCATTCAAAGACAAGCAGATCCACCCGGGCTTTGGCAGCCTGCCCCAG
CCGCCGCTCACCCTCAAGCCCATCCGGCCCCGCAAGTACCCCAACCGGCCTAGCAAGACACCGCTCCACGAACGGCCCCACGCGTGCCCGGCCGAGGGCTGCGAC
CGCCGTTTCAGCCGTTCGGACGAGCTGACCCGGCACCTGCGCATCCACACGGGCCACAAGCCCTTCCAGTGCCGGATCTGCATGCGGAGCTTCAGCCGCAGCGAC
CACCTCACCACTCACATCCGCACTCATACGGGCGAGAAGCCCTTTGCCTGCGAGTTCTGCGGGCGCAAGTTTGCGCGCAGCGACGAGCGCAAGCGCCACGCCAAG
ATCCACCTCAAGCAAAAGGAGAAGAAGGCGGAGAAGGGCGGTGCACCCTCTGCATCCTCGGCGCCCCCCGTGTCGCTGGCCCCCGTGGTCACCACCTGCGCCTGA

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>EGR3|1960|protein
MEPCAAWSPRGGRENVMDIGLTNEKPNPELSYSGSFQPAPGNKTVTYLGKFAFDSPSNWCQDNIISLMSAGILGVPPASGALSTQTSTASMVQPPQGDVEAMYPA
LPPYSNCGDLYSEPVSFHDPQGNPGLAYSPQDYQSAKPALDSNLFPMIPDYNLYHHPNDMGSIPEHKPFQGMDPIRVNPPPITPLETIKAFKDKQIHPGFGSLPQ
PPLTLKPIRPRKYPNRPSKTPLHERPHACPAEGCDRRFSRSDELTRHLRIHTGHKPFQCRICMRSFSRSDHLTTHIRTHTGEKPFACEFCGRKFARSDERKRHAK
IHLKQKEKKAEKGGAPSASSAPPVSLAPVVTTCA

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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) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (6)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top