AutismKB 2.0

Evidence Details for ELAVL3


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Basic Information Top
Gene Symbol:ELAVL3 ( DKFZp547J036,HUC,HUCL,MGC20653,PLE21 )
Gene Full Name: ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)
Band: 19p13.2
Quick LinksEntrez ID:1995; OMIM: 603458; Uniprot ID:ELAV3_HUMAN; ENSEMBL ID: ENSG00000196361; HGNC ID: 3314
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELAVL3|1995|nucleotide
ATGGTCACTCAGATACTGGGGGCCATGGAGTCTCAGGTGGGGGGGGGCCCGGCCGGCCCGGCCCTGCCCAACGGGCCACTCCTTGGTACAAATGGAGCCACTGAC
GACAGCAAGACCAACCTCATCGTCAACTACCTGCCCCAGAACATGACCCAGGATGAGTTCAAGAGTCTCTTCGGCAGCATTGGCGACATCGAGTCCTGCAAGTTG
GTTCGGGACAAGATCACAGGGCAGAGCCTTGGCTACGGGTTTGTGAACTATTCTGACCCCAATGATGCAGACAAAGCCATCAACACCCTCAACGGCCTCAAATTA
CAGACGAAGACCATCAAGGTGTCCTATGCCAGACCCAGTTCAGCATCCATCCGGGATGCTAACCTGTACGTCAGCGGGCTCCCCAAGACCATGAGCCAGAAAGAG
ATGGAGCAGCTCTTCTCCCAGTACGGCCGCATCATCACGTCCCGCATCCTGGTGGACCAGGTCACAGGTGTCTCTCGGGGTGTGGGATTCATCCGCTTTGACAAG
AGGATTGAGGCCGAAGAGGCTATCAAAGGACTGAATGGGCAGAAGCCGCTGGGCGCAGCTGAGCCCATCACAGTCAAGTTCGCGAACAACCCAAGTCAGAAGACG
GGGCAGGCGCTGCTCACCCACCTCTACCAGTCATCCGCCCGGCGCTACGCAGGCCCCCTACACCATCAGACCCAGCGTTTCCGGCTGGACAATTTGCTCAACATG
GCCTACGGCGTCAAGAGTCCCCTGTCGCTCATCGCCAGGTTCTCGCCGATCGCCATCGATGGTATGAGCGGCCTGGCGGGCGTGGGCCTGTCGGGGGGCGCGGCG
GGCGCCGGCTGGTGCATCTTCGTGTACAACCTGTCACCGGAGGCAGACGAGAGCGTGCTGTGGCAGCTGTTCGGGCCTTTTGGGGCAGTCACCAACGTCAAGGTC
ATCCGTGATTTCACCACCAACAAGTGCAAGGGTTTCGGCTTCGTGACCATGACCAACTATGACGAGGCGGCCATGGCCATCGCCAGCCTGAACGGCTATCGCCTG
GGCGAGCGCGTGCTGCAGGTCTCCTTCAAGACCAGCAAACAGCACAAGGCGTGA
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>ELAVL3|1995|protein
MVTQILGAMESQVGGGPAGPALPNGPLLGTNGATDDSKTNLIVNYLPQNMTQDEFKSLFGSIGDIESCKLVRDKITGQSLGYGFVNYSDPNDADKAINTLNGLKL
QTKTIKVSYARPSSASIRDANLYVSGLPKTMSQKEMEQLFSQYGRIITSRILVDQVTGVSRGVGFIRFDKRIEAEEAIKGLNGQKPLGAAEPITVKFANNPSQKT
GQALLTHLYQSSARRYAGPLHHQTQRFRLDNLLNMAYGVKSPLSLIARFSPIAIDGMSGLAGVGLSGGAAGAGWCIFVYNLSPEADESVLWQLFGPFGAVTNVKV
IRDFTTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGERVLQVSFKTSKQHKA

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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
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
Dong S, 2014 787 787 42 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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