AutismKB 2.0

Evidence Details for ETV2


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Basic Information Top
Gene Symbol:ETV2 ( ER71,ETSRP71,MGC129834,MGC129835 )
Gene Full Name: ets variant 2
Band: 19q13.12
Quick LinksEntrez ID:2116; OMIM: 609358; Uniprot ID:B3KUL0_HUMAN; ENSEMBL ID: ENSG00000105672; HGNC ID: 3491
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ETV2|2116|nucleotide
ATGGACCTGTGGAACTGGGATGAGGCATCCCCACAGGAAGTGCCTCCAGGGAACAAGCTGGCAGGGCTTGAAGGAGCCAAATTAGGCTTCTGTTTCCCTGATCTG
GCACTCCAAGGGGACACGCCGACAGCGACAGCAGAGACATGCTGGAAAGGTACAAGCTCATCCCTGGCAAGCTTCCCACAGCTGGACTGGGGCTCCGCGTTACTG
CACCCAGAAGTTCCATGGGGGGCGGAGCCCGACTCTCAGGCTCTTCCGTGGTCCGGGGACTGGACAGACATGGCGTGCACAGCCTGGGACTCTTGGAGCGGCGCC
TCGCAGACCCTGGGCCCCGCCCCTCTCGGCCCGGGCCCCATCCCCGCCGCCGGCTCCGAAGGCGCCGCGGGCCAGAACTGCGTCCCCGTGGCGGGAGAGGCCACC
TCGTGGTCGCGCGCCCAGGCCGCCGGGAGCAACACCAGCTGGGACTGTTCTGTGGGGCCCGACGGCGATACCTACTGGGGCAGTGGCCTGGGCGGGGAGCCGCGC
ACGGACTGTACCATTTCGTGGGGCGGGCCCGCGGGCCCGGACTGTACCACCTCCTGGAACCCGGGGCTGCATGCGGGTGGCACCACCTCTTTGAAGCGGTACCAG
AGCTCAGCTCTCACCGTTTGCTCCGAACCGAGCCCGCAGTCGGACCGTGCCAGTTTGGCTCGATGCCCCAAAACTAACCACCGAGGTCCCATTCAGCTGTGGCAG
TTCCTCCTGGAGCTGCTCCACGACGGGGCGCGTAGCAGCTGCATCCGTTGGACTGGCAACAGCCGCGAGTTCCAGCTGTGCGACCCCAAAGAGGTGGCTCGGCTG
TGGGGCGAGCGCAAGAGAAAGCCGGGCATGAATTACGAGAAGCTGAGCCGGGGCCTTCGCTACTACTATCGCCGCGACATCGTGCGCAAGAGCGGGGGGCGAAAG
TACACGTACCGCTTCGGGGGCCGCGTGCCCAGCCTAGCCTATCCGGACTGTGCGGGAGGCGGACGGGGAGCAGAGACACAATAA

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>ETV2|2116|protein
MDLWNWDEASPQEVPPGNKLAGLEGAKLGFCFPDLALQGDTPTATAETCWKGTSSSLASFPQLDWGSALLHPEVPWGAEPDSQALPWSGDWTDMACTAWDSWSGA
SQTLGPAPLGPGPIPAAGSEGAAGQNCVPVAGEATSWSRAQAAGSNTSWDCSVGPDGDTYWGSGLGGEPRTDCTISWGGPAGPDCTTSWNPGLHAGGTTSLKRYQ
SSALTVCSEPSPQSDRASLARCPKTNHRGPIQLWQFLLELLHDGARSSCIRWTGNSREFQLCDPKEVARLWGERKRKPGMNYEKLSRGLRYYYRRDIVRKSGGRK
YTYRFGGRVPSLAYPDCAGGGRGAETQ

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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top