AutismKB 2.0

Evidence Details for ETV1


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Basic Information Top
Gene Symbol:ETV1 ( DKFZp781L0674,ER81,MGC104699,MGC120533,MGC120534 )
Gene Full Name: ets variant 1
Band: 7p21.2
Quick LinksEntrez ID:2115; OMIM: 600541; Uniprot ID:ETV1_HUMAN; ENSEMBL ID: ENSG00000006468; HGNC ID: 3490
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ETV1|2115|nucleotide
ATGGATGGATTTTATGACCAGCAAGTGCCTTACATGGTCACCAATAGTCAGCGTGGGAGAAATTGTAACGAGAAACCAACAAATGTCAGGAAAAGAAAATTCATT
AACAGAGATCTGGCTCATGATTCAGAAGAACTCTTTCAAGATCTAAGTCAATTACAGGAAACATGGCTTGCAGAAGCTCAGGTACCTGACAATGATGAGCAGTTT
GTACCAGACTATCAGGCTGAAAGTTTGGCTTTTCATGGCCTGCCACTGAAAATCAAGAAAGAACCCCACAGTCCATGTTCAGAAATCAGCTCTGCCTGCAGTCAA
GAACAGCCCTTTAAATTCAGCTATGGAGAAAAGTGCCTGTACAATGTCAGTGCCTATGATCAGAAGCCACAAGTGGGAATGAGGCCCTCCAACCCCCCCACACCA
TCCAGCACGCCAGTGTCCCCACTGCATCATGCATCTCCAAACTCAACTCATACACCGAAACCTGACCGGGCCTTCCCAGCTCACCTCCCTCCATCGCAGTCCATA
CCAGATAGCAGCTACCCCATGGACCACAGATTTCGCCGCCAGCTTTCTGAACCCTGTAACTCCTTTCCTCCTTTGCCGACGATGCCAAGGGAAGGACGTCCTATG
TACCAACGCCAGATGTCTGAGCCAAACATCCCCTTCCCACCACAAGGCTTTAAGCAGGAGTACCACGACCCAGTGTATGAACACAACACCATGGTTGGCAGTGCG
GCCAGCCAAAGCTTTCCCCCTCCTCTGATGATTAAACAGGAACCCAGAGATTTTGCATATGACTCAGGCTGTATGTTTGAAAAGGGCCCCAGGCAGTTTTATGAT
GACACCTGTGTTGTCCCAGAAAAATTCGATGGAGACATCAAACAAGAGCCAGGAATGTATCGGGAAGGACCCACATACCAACGGCGAGGATCACTTCAGCTCTGG
CAGTTTTTGGTAGCTCTTCTGGATGACCCTTCAAATTCTCATTTTATTGCCTGGACTGGTCGAGGCATGGAATTTAAACTGATTGAGCCTGAAGAGGTGGCCCGA
CGTTGGGGCATTCAGAAAAACAGGCCAGCTATGAACTATGATAAACTTAGCCGTTCACTCCGCTATTACTATGAGAAAGGAATTATGCAAAAGGTGGCTGGAGAG
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>ETV1|2115|protein
MDGFYDQQVPYMVTNSQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESLAFHGLPLKIKKEPHSPCSEISSACSQ
EQPFKFSYGEKCLYNVSAYDQKPQVGMRPSNPPTPSSTPVSPLHHASPNSTHTPKPDRAFPAHLPPSQSIPDSSYPMDHRFRRQLSEPCNSFPPLPTMPREGRPM
YQRQMSEPNIPFPPQGFKQEYHDPVYEHNTMVGSAASQSFPPPLMIKQEPRDFAYDSGCMFEKGPRQFYDDTCVVPEKFDGDIKQEPGMYREGPTYQRRGSLQLW
QFLVALLDDPSNSHFIAWTGRGMEFKLIEPEEVARRWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCDPEALFSMAFPDNQRPLLKTDMERHIN
EEDTVPLSHFDESMAYMPEGGCCNPHPYNEGYVY
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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) 1 (3) 0 (0) 0 (0) 0 (0) 12 (4)
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