AutismKB 2.0

Evidence Details for FRMD1


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Basic Information Top
Gene Symbol:FRMD1 ( DKFZp434O0117,FLJ00181,FLJ22615,FLJ40260,bA164L23.1 )
Gene Full Name: FERM domain containing 1
Band: 6q27
Quick LinksEntrez ID:79981; OMIM: NA; Uniprot ID:FRMD1_HUMAN; ENSEMBL ID: ENSG00000153303; HGNC ID: 21240
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FRMD1|79981|nucleotide
ATGGATGATGTGAAGGCTACTGGCCGCGAGCTTTTCCAGCAAGTGTGCAACGTGGCGAGCATCAGAGACGCGCAGTTCTTTGGCCTCTGTGTGGTCAGAAACAAT
GAGTATATATTTATGGATTTGGAGCAAAAGCTCAGCAAGTACTTCTCAAAAGATTGGAAGAAAGAAAGAAATGAAGGAAATGAGAAACCCAGAGCCCCCTTCGTG
GCCTTCCTCCGAGTGCAGCACTACGTGGAAAACGGAAGGGTCATAAGCGACCACAGGGCACGGCACCTGTACTACTGCCACTTGAAGGAGCGCGTGCTGAGGTCA
CAGTGCGCTCACCGGGAGGAAGCCTACTTCCTGCTGGCTGCCTGCGCGCTGCAGGCTGACCTGGGCGAGCACCGGGAGTCGGCCCATGCCGGGAGGTACTTCGAG
CCACACTCCTACTTCCCACAGTGGATCATCACCAAGAGGGGGATTGACTACATCCTCCGGCACATGCCTACCCTGCACCGTGAGCGCCAGGGCCTGAGCCCCAAG
GAGGCCATGCTGTGCTTCATCCAGGAGGCCTGCCGGCTGGAGGACGTGCCCGTGCACTTCTTCAGGCTGCACAAGGATAAGAAGGAAGGTCGTCCCACCGTGATC
CTGGGACTGGCCCTCAGGGGAGTGCACATCTACCAGGGAAAGAAGCTGGAGATCCAGCTGGATGGGCTGCCCGCAGCACAGAAGCTGGTTTACTACACGGGGTGC
ACCTGGCGGTCCAGGCACCTGCTGCACCTGCTGCGCGCCAGCCACCAGCTCCACCTCCGCGTGCGGCCCACTCTGCAACAGCTGCGGCAGCGGGAGGAGGCAGAA
GAGAAGCAGCACTACCGGGAGTCCTATATCAGCGATGAGCTGGAGCTGGACCTGGCCAGCAGGAGCTTCCCGGGCAGTGGGGTCAGCAGCCAGCACTGCCCCCAC
TGCCTCTCACGCCACTCCGCCGACAGCCACGGCAGTTCCTACACGTCAGGCATCAAGGCCAACTCCTGGCTCAGGGAATCCAGAGAGATGTCTGTGGACGTGCCC
TTGGAGGTCCACGGGCTCCATGAGAAGGAGCCGTCCTCCAGCCCCAGGACCAGCCGCAGCCACCCCAGCACACGTGGTGACAGCCAAGCCACTCGTCAGGAGCCC
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>FRMD1|79981|protein
MDDVKATGRELFQQVCNVASIRDAQFFGLCVVRNNEYIFMDLEQKLSKYFSKDWKKERNEGNEKPRAPFVAFLRVQHYVENGRVISDHRARHLYYCHLKERVLRS
QCAHREEAYFLLAACALQADLGEHRESAHAGRYFEPHSYFPQWIITKRGIDYILRHMPTLHRERQGLSPKEAMLCFIQEACRLEDVPVHFFRLHKDKKEGRPTVI
LGLALRGVHIYQGKKLEIQLDGLPAAQKLVYYTGCTWRSRHLLHLLRASHQLHLRVRPTLQQLRQREEAEEKQHYRESYISDELELDLASRSFPGSGVSSQHCPH
CLSRHSADSHGSSYTSGIKANSWLRESREMSVDVPLEVHGLHEKEPSSSPRTSRSHPSTRGDSQATRQEPCTQVRTRGQSAEAVHQIQEMTAGVSEEQHSHGLDD
MQLHQLALHPAPTSLSHTFHRALDCRLAGPCETRATLPSKRSSNCLALDLFGEAPPQEFVV
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (3)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top