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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018