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
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
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
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.

Simple Query:


  (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