AutismKB 2.0

Evidence Details for FAM100A


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Basic Information Top
Gene Symbol:FAM100A ( FLJ31223,FLJ32185 )
Gene Full Name: family with sequence similarity 100, member A
Band: 16p13.3
Quick LinksEntrez ID:124402; OMIM: NA; Uniprot ID:F100A_HUMAN; ENSEMBL ID: ENSG00000153443; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM100A|124402|nucleotide
ATGTCCGTGAACATGGACGAGCTCAAGCACCAGGTCATGATCAACCAGTTCGTGCTGACGGCGGGCTGCGCGGCCGACCAGGCGAAGCAACTGCTGCAGGCGGCC
CACTGGCAGTTCGAGACAGCCCTCAGCGCCTTTTTCCAGGAGACCAACATCCCCTACAGCCACCATCACCACCAGATGATGTGCACCCCCGCCAATACCCCTGCT
ACACCCCCCAACTTCCCTGACGCTCTCACCATGTTCTCCCGTCTCAAGGCCTCCGAGAGCTTCCACAGCGGTGGCAGCGGCAGCCCGATGGCCGCGACAGCCACG
TCACCCCCGCCACACTTCCCCCATGCCGCCACCAGCAGCTCTGCGGCCTCCAGCTGGCCCACGGCGGCCTCGCCCCCGGGGGGCCCACAGCACCACCAGCCACAG
CCGCCCCTGTGGACTCCAACACCCCCTTCTCCGGCTTCAGACTGGCCACCCCTGGCCCCCCAACAGGCCACCTCAGAACCCAGGGCCCACCCTGCCATGGAGGCA
GAGAGATAA





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>FAM100A|124402|protein
MSVNMDELKHQVMINQFVLTAGCAADQAKQLLQAAHWQFETALSAFFQETNIPYSHHHHQMMCTPANTPATPPNFPDALTMFSRLKASESFHSGGSGSPMAATAT
SPPPHFPHAATSSSAASSWPTAASPPGGPQHHQPQPPLWTPTPPSPASDWPPLAPQQATSEPRAHPAMEAER



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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) 1 (2) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top