AutismKB 2.0

Evidence Details for ETV3


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Basic Information Top
Gene Symbol:ETV3 ( FLJ79173,METS,PE-1,PE1,bA110J1.4 )
Gene Full Name: ets variant 3
Band: 1q23.1
Quick LinksEntrez ID:2117; OMIM: 164873; Uniprot ID:ETV3_HUMAN; ENSEMBL ID: ENSG00000117036; HGNC ID: 3492
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ETV3|2117|nucleotide
ATGAAAGCCGGCTGTAGCATCGTGGAAAAGCCAGAAGGAGGTGGAGGGTATCAGTTTCCTGACTGGGCCTACAAAACAGAGTCATCCCCAGGCTCCCGGCAGATC
CAGCTGTGGCACTTCATCCTGGAGCTGCTGCAGAAGGAAGAGTTCCGCCATGTCATCGCCTGGCAGCAGGGAGAGTACGGGGAATTTGTCATCAAGGATCCAGAT
GAGGTGGCCCGCCTCTGGGGCCGCAGGAAATGCAAACCACAGATGAATTATGACAAGCTGAGCCGGGCCCTCAGATACTATTACAACAAGAGGATCCTTCATAAA
ACAAAAGGGAAAAGATTTACCTATAAATTTAACTTCAACAAGCTGGTGATGCCCAACTACCCATTCATCAACATTCGGTCAAGTGGTGTGGTTCCTCAGAGTGCA
CCACCAGTGCCAACAGCCTCTTCCCGGTTCCATTTCCCACCTCTGGACACCCATTCTCCAACCAATGATGTGCAGCCGGGACGGTTCTCTGCTAGCTCCCTAACT
GCTTCTGGCCAGGAGTCCAGTAATGGTACTGATAGAAAGACTGAGCTTTCAGAGCTGGAGGATGGCTCAGCTGCTGACTGGCGCCGGGGTGTGGATCCCGTGTCC
TCCAGGAATGCCATTGGTGGAGGAGGGATTGGCCATCAGAAACGCAAGCCTGACATAATGCTTCCTCTGTTTGCTAGGCCAGGGATGTACCCTGACCCCCACAGT
CCCTTCGCTGTCTCTCCAATCCCTGGCCGCGGAGGTGTCCTTAATGTCCCCATTTCACCAGCCCTCTCCCTGACTCCCACCATCTTCTCCTATAGCCCATCACCA
GGCCTGAGCCCTTTCACCAGCAGCAGCTGCTTCTCCTTCAACCCTGAGGAAATGAAACACTACCTTCATTCTCAAGCTTGTTCTGTGTTCAACTACCATCTGAGT
CCTCGGACTTTTCCCCGTTACCCAGGGCTCATGGTTCCACCACTGCAGTGCCAAATGCATCCTGAGGAGTCAACTCAGTTCTCCATCAAGCTGCAGCCCCCACCA
GTTGGGCGGAAGAACCGGGAGAGGGTTGAGAGCAGCGAGGAGTCAGCACCAGTCACCACGCCCACCATGGCTTCTATTCCCCCAAGAATCAAGGTGGAACCTGCC
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>ETV3|2117|protein
MKAGCSIVEKPEGGGGYQFPDWAYKTESSPGSRQIQLWHFILELLQKEEFRHVIAWQQGEYGEFVIKDPDEVARLWGRRKCKPQMNYDKLSRALRYYYNKRILHK
TKGKRFTYKFNFNKLVMPNYPFINIRSSGVVPQSAPPVPTASSRFHFPPLDTHSPTNDVQPGRFSASSLTASGQESSNGTDRKTELSELEDGSAADWRRGVDPVS
SRNAIGGGGIGHQKRKPDIMLPLFARPGMYPDPHSPFAVSPIPGRGGVLNVPISPALSLTPTIFSYSPSPGLSPFTSSSCFSFNPEEMKHYLHSQACSVFNYHLS
PRTFPRYPGLMVPPLQCQMHPEESTQFSIKLQPPPVGRKNRERVESSEESAPVTTPTMASIPPRIKVEPASEKDPESLRQSAREKEEHTQEEGTVPSRTIEEEKG
TIFARPAAPPIWPSVPISTPSGEPLEVTEDSEDRPGKEPSAPEKKEDALMPPKLRLKRRWNDDPEARELSKSGKFLWNGSGPQGLATAAADA
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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) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top