AutismKB 2.0

Evidence Details for ELMO1


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Basic Information Top
Gene Symbol:ELMO1 ( CED-12,CED12,ELMO-1,KIAA0281,MGC126406 )
Gene Full Name: engulfment and cell motility 1
Band: 7p14.2-p14.1
Quick LinksEntrez ID:9844; OMIM: 606420; Uniprot ID:ELMO1_HUMAN; ENSEMBL ID: ENSG00000155849; HGNC ID: 16286
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELMO1|9844|nucleotide
ATGCAGGTGGTGAAGGAGCAGGTTATGAGAGCACTTACAACCAAGCCTAGCTCCCTGGACCAGTTCAAGAGCAAACTGCAGAACCTGAGCTACACTGAGATCCTG
AAAATCCGCCAGTCCGAGAGGATGAACCAGGAAGATTTCCAGTCCCGCCCGATTTTGGAACTAAAGGAGAAGATTCAGCCAGAAATCTTAGAGCTGATCAAACAG
CAACGCCTGAACCGCCTTGTGGAAGGGACCTGCTTTAGGAAACTCAATGCCCGGCGGAGGCAAGACAAGTTTTGGTATTGTCGGCTTTCGCCAAATCACAAAGTC
CTGCATTACGGAGACTTAGAAGAGAGTCCTCAGGGAGAAGTGCCCCACGATTCCTTGCAGGACAAACTGCCGGTGGCAGATATCAAAGCCGTGGTGACGGGAAAG
GACTGCCCTCATATGAAAGAGAAAGGTGCCCTTAAACAAAACAAGGAGGTGCTTGAACTCGCTTTCTCCATCTTGTATGACTCAAACTGCCAACTGAACTTCATC
GCTCCTGACAAGCATGAGTACTGTATCTGGACGGATGGACTGAATGCGCTACTCGGGAAGGACATGATGAGCGACCTGACGCGGAATGACCTGGACACCCTGCTC
AGCATGGAAATCAAGCTCCGCCTCCTGGACCTGGAAAACATCCAGATCCCTGACGCACCTCCGCCGATTCCCAAGGAGCCCAGCAACTATGACTTCGTCTATGAC
TGTAACTGA



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>ELMO1|9844|protein
MQVVKEQVMRALTTKPSSLDQFKSKLQNLSYTEILKIRQSERMNQEDFQSRPILELKEKIQPEILELIKQQRLNRLVEGTCFRKLNARRRQDKFWYCRLSPNHKV
LHYGDLEESPQGEVPHDSLQDKLPVADIKAVVTGKDCPHMKEKGALKQNKEVLELAFSILYDSNCQLNFIAPDKHEYCIWTDGLNALLGKDMMSDLTRNDLDTLL
SMEIKLRLLDLENIQIPDAPPPIPKEPSNYDFVYDCN


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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 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
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
Dong S, 2014 787 787 42 De novo insertions and deletions of predominantly paternal origin are associated with autism spectru
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.

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  (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