AutismKB 2.0

Evidence Details for ETS2


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Basic Information Top
Gene Symbol:ETS2 ( ETS2IT1 )
Gene Full Name: v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)
Band: 21q22.2
Quick LinksEntrez ID:2114; OMIM: 164740; Uniprot ID:ETS2_HUMAN; ENSEMBL ID: ENSG00000157557; HGNC ID: 3489
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ETS2|2114|nucleotide
ATGAATGATTTCGGAATCAAGAATATGGACCAGGTAGCCCCTGTGGCTAACAGTTACAGAGGGACACTCAAGCGCCAGCCAGCCTTTGACACCTTTGATGGGTCC
CTGTTTGCTGTTTTTCCTTCTCTAAATGAAGAGCAAACACTGCAAGAAGTGCCAACAGGCTTGGATTCCATTTCTCATGACTCCGCCAACTGTGAATTGCCTTTG
TTAACCCCGTGCAGCAAGGCTGTGATGAGTCAAGCCTTAAAAGCTACCTTCAGTGGCTTCAAAAAGGAACAGCGGCGCCTGGGCATTCCAAAGAACCCCTGGCTG
TGGAGTGAGCAACAGGTATGCCAGTGGCTTCTCTGGGCCACCAATGAGTTCAGTCTGGTGAACGTGAATCTGCAGAGGTTCGGCATGAATGGCCAGATGCTGTGT
AACCTTGGCAAGGAACGCTTTCTGGAGCTGGCACCTGACTTTGTGGGTGACATTCTCTGGGAACATCTGGAGCAAATGATCAAAGAAAACCAAGAAAAGACAGAA
GATCAATATGAAGAAAATTCACACCTCACCTCCGTTCCTCATTGGATTAACAGCAATACATTAGGTTTTGGCACAGAGCAGGCGCCCTATGGAATGCAGACACAG
AATTACCCCAAAGGCGGCCTCCTGGACAGCATGTGTCCGGCCTCCACACCCAGCGTACTCAGCTCTGAGCAGGAGTTTCAGATGTTCCCCAAGTCTCGGCTCAGC
TCCGTCAGCGTCACCTACTGCTCTGTCAGTCAGGACTTCCCAGGCAGCAACTTGAATTTGCTCACCAACAATTCTGGGACTCCCAAAGACCACGACTCCCCTGAG
AACGGTGCGGACAGCTTCGAGAGCTCAGACTCCCTCCTCCAGTCCTGGAACAGCCAGTCGTCCTTGCTGGATGTGCAACGGGTTCCTTCCTTCGAGAGCTTCGAA
GATGACTGCAGCCAGTCTCTCTGCCTCAATAAGCCAACCATGTCTTTCAAGGATTACATCCAAGAGAGGAGTGACCCAGTGGAGCAAGGCAAACCAGTTATACCT
GCAGCTGTGCTGGCCGGCTTCACAGGAAGTGGACCTATTCAGCTGTGGCAGTTTCTCCTGGAGCTGCTATCAGACAAATCCTGCCAGTCATTCATCAGCTGGACT
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>ETS2|2114|protein
MNDFGIKNMDQVAPVANSYRGTLKRQPAFDTFDGSLFAVFPSLNEEQTLQEVPTGLDSISHDSANCELPLLTPCSKAVMSQALKATFSGFKKEQRRLGIPKNPWL
WSEQQVCQWLLWATNEFSLVNVNLQRFGMNGQMLCNLGKERFLELAPDFVGDILWEHLEQMIKENQEKTEDQYEENSHLTSVPHWINSNTLGFGTEQAPYGMQTQ
NYPKGGLLDSMCPASTPSVLSSEQEFQMFPKSRLSSVSVTYCSVSQDFPGSNLNLLTNNSGTPKDHDSPENGADSFESSDSLLQSWNSQSSLLDVQRVPSFESFE
DDCSQSLCLNKPTMSFKDYIQERSDPVEQGKPVIPAAVLAGFTGSGPIQLWQFLLELLSDKSCQSFISWTGDGWEFKLADPDEVARRWGKRKNKPKMNYEKLSRG
LRYYYDKNIIHKTSGKRYVYRFVCDLQNLLGFTPEELHAILGVQPDTED
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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) 0 (1) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top