AutismKB 2.0

Evidence Details for ELMO3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ELMO3 ( CED-12,CED12,ELMO-3,FLJ13824 )
Gene Full Name: engulfment and cell motility 3
Band: 16q22.1
Quick LinksEntrez ID:79767; OMIM: 606422; Uniprot ID:ELMO3_HUMAN; ENSEMBL ID: ENSG00000102890; HGNC ID: 17289
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELMO3|79767|nucleotide
ATGGCCAGGAGCAGCAGTCTGGGCCGCGAGTGCGGGACACCGAGGTCAGGTCTCGGAAAGGGAGGACCTCCTCGTCCCCAGGGGCCCCAGGCCAGGTGCACCCTT
GGCCGCAGGTGCACGGTCTCCGGAAAGTGCAGGCGCCCACGTCCCAGCTGGACCATGGCGCCTCCGCGGAACGTGGTGAAGATTGCCATCAAGATGCGTGACGCC
ATCCCGCAGCTCATCCAGCTGGACCAGGCGAAGCCCCTGGCCGCTGTGCTGAAGGAGGTGTGCGACGCGTGGAGCCTGACGCACTCTGAGCGTTACGCCCTGCAG
TTTGCGGATGGGCACCGGAGATACATCACCGAGAATAACCGCGCGGAGATCAAGAATGGCAGCATCCTGTGCCTCAGCACGGCCCCAGACCTTGAGGCTGAGCAG
CTCTTGGGTGGGCTGCAGAGTAACAGTCCTGAAGGGCGCCGGGAAGCCCTGAGGCGCCTTGTTCCGCTGGCCTCGGACATGATCTTTGCCAGGGAGGTCATCAGC
CGTAATGGGCTCCAGATACTAGGCACCATCATTGAAGATGGGGACGACCTAGGAGAGGTGCTGGCCCTCAGCCTGAGGGCCTTCTCAGAGCTCATGGAGCACGGC
GTGGTGTCCTGGGAGACTCTGAGCATCCCCTTTGTGAGGAAGGTGGTGTGCTACGTGAACATGAACCTCATGGATGCCTCCGTGCCTCCCCTGGCCCTTGGGCTG
CTGGAGAGTGTGACCTTGAGCAGCCCAGCCCTGGGCCAGCTGGTCAAGAGCGAGGTGCCCCTGGATAGGCTGCTGGTGCACCTACAGGTGATGAACCAGCAGCTG
CAAACCAAGGCCATGGCCCTGCTGACAGCCTTGCTGCAGGGGGCCAGCCCTGTGGAACGCAAGCACATGCTTGACTATCTTTGGCAGAGGAACCTTCGCCAGTTC
ATCTATAAGAACATCATCCACAGTGCAGCACCAATGGGCGACGAGATGGCTCATCACCTGTACGTACTGCAGGCTCTCATGCTGGGGCTGCTGGAGCCGCGCATG
CGGACGCCCCTGGACCCCTACAGCCAGGAGCAGCGGGAGCAGCTGCAGGTCCTACGCCAGGCTGCCTTCGAGGTGGAGGGGGAGTCCTCGGGTGCCGGGCTAAGT
Show »

>ELMO3|79767|protein
MARSSSLGRECGTPRSGLGKGGPPRPQGPQARCTLGRRCTVSGKCRRPRPSWTMAPPRNVVKIAIKMRDAIPQLIQLDQAKPLAAVLKEVCDAWSLTHSERYALQ
FADGHRRYITENNRAEIKNGSILCLSTAPDLEAEQLLGGLQSNSPEGRREALRRLVPLASDMIFAREVISRNGLQILGTIIEDGDDLGEVLALSLRAFSELMEHG
VVSWETLSIPFVRKVVCYVNMNLMDASVPPLALGLLESVTLSSPALGQLVKSEVPLDRLLVHLQVMNQQLQTKAMALLTALLQGASPVERKHMLDYLWQRNLRQF
IYKNIIHSAAPMGDEMAHHLYVLQALMLGLLEPRMRTPLDPYSQEQREQLQVLRQAAFEVEGESSGAGLSADRRRSLCAREFRKLGFSNSNPAQDLERVPPGLLA
LDNMLYFSRNAPSAYSRFVLENSSREDKHECPFARGSIQLTVLLCELLRVGEPCSETAQDFSPMFFGQDQSFHELFCVGIQLLNKTWKEMRATQEDFDKVMQVVR
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top