AutismKB 2.0

Evidence Details for ERF


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Basic Information Top
Gene Symbol:ERF ( PE-2,PE2 )
Gene Full Name: Ets2 repressor factor
Band: 19q13.2
Quick LinksEntrez ID:2077; OMIM: 611888; Uniprot ID:ERF_HUMAN; ENSEMBL ID: ENSG00000105722; HGNC ID: 3444
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ERF|2077|nucleotide
ATGAAGACCCCGGCGGACACAGGGTTTGCCTTCCCGGATTGGGCCTACAAGCCAGAGTCGTCCCCTGGCTCAAGGCAGATCCAGCTGTGGCACTTTATCCTGGAG
CTGCTGCGGAAGGAGGAGTACCAGGGCGTCATTGCCTGGCAGGGGGACTACGGGGAATTCGTCATCAAAGACCCTGATGAGGTGGCCCGGCTGTGGGGCGTTCGC
AAGTGCAAGCCCCAGATGAATTACGACAAGCTGAGCCGGGCCCTGCGCTATTACTATAACAAGCGCATTCTGCACAAGACCAAGGGGAAACGGTTCACCTACAAG
TTCAATTTCAACAAACTGGTGCTGGTCAATTACCCATTCATTGATGTGGGGTTGGCTGGGGGTGCAGTGCCCCAGAGTGCCCCGCCAGTGCCGTCGGGTGGTAGC
CACTTCCGCTTCCCTCCCTCAACGCCCTCCGAGGTGCTGTCCCCCACCGAGGACCCCCGCTCACCACCAGCCTGCTCTTCATCTTCATCTTCCCTCTTCTCGGCT
GTGGTGGCCCGCCGCCTGGGCCGAGGCTCAGTCAGTGACTGTAGTGATGGCACGTCAGAGCTGGAGGAACCGCTGGGAGAGGATCCCCGCGCCCGACCACCCGGC
CCTCCGGATCTGGGTGCCTTCCGAGGGCCCCCGCTGGCCCGCCTGCCCCATGACCCTGGTGTCTTCCGAGTCTATCCCCGGCCTCGGGGTGGCCCTGAACCCCTC
AGCCCCTTCCCTGTGTCGCCTCTGGCCGGTCCTGGATCCCTGCTGCCCCCTCAGCTCTCCCCGGCTCTGCCCATGACGCCCACCCACCTGGCCTACACTCCCTCG
CCCACGCTGAGCCCGATGTACCCCAGTGGTGGCGGGGGGCCCAGCGGCTCAGGGGGAGGCTCCCACTTCTCCTTCAGCCCTGAGGACATGAAACGGTACCTGCAG
GCCCACACCCAAAGCGTCTACAACTACCACCTCAGCCCCCGCGCCTTCCTGCACTACCCTGGGCTGGTGGTGCCCCAGCCCCAGCGCCCTGACAAGTGCCCGCTG
CCGCCCATGGCACCCGAGACCCCACCGGTCCCCTCCTCGGCCTCGTCATCCTCTTCTTCTTCTTCCTCCCCATTCAAGTTTAAGCTCCAGCCGCCCCCACTCGGA
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>ERF|2077|protein
MKTPADTGFAFPDWAYKPESSPGSRQIQLWHFILELLRKEEYQGVIAWQGDYGEFVIKDPDEVARLWGVRKCKPQMNYDKLSRALRYYYNKRILHKTKGKRFTYK
FNFNKLVLVNYPFIDVGLAGGAVPQSAPPVPSGGSHFRFPPSTPSEVLSPTEDPRSPPACSSSSSSLFSAVVARRLGRGSVSDCSDGTSELEEPLGEDPRARPPG
PPDLGAFRGPPLARLPHDPGVFRVYPRPRGGPEPLSPFPVSPLAGPGSLLPPQLSPALPMTPTHLAYTPSPTLSPMYPSGGGGPSGSGGGSHFSFSPEDMKRYLQ
AHTQSVYNYHLSPRAFLHYPGLVVPQPQRPDKCPLPPMAPETPPVPSSASSSSSSSSSPFKFKLQPPPLGRRQRAAGEKAVAGADKSGGSAGGLAEGAGALAPPP
PPPQIKVEPISEGESEEVEVTDISDEDEEDGEVFKTPRAPPAPPKPEPGEAPGASQCMPLKLRFKRRWSEDCRLEGGGGPAGGFEDEGEDKKVRGEGPGEAGGPL
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top