AutismKB 2.0

Evidence Details for FLG


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Basic Information Top
Gene Symbol:FLG ( ATOD2 )
Gene Full Name: filaggrin
Band: 1q21.3
Quick LinksEntrez ID:2312; OMIM: 135940; Uniprot ID:FILA_HUMAN; ENSEMBL ID: ENSG00000143631; HGNC ID: 3748
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FLG|2312|nucleotide
ATGTCTACTCTCCTGGAAAACATCTTTGCCATAATTAATCTTTTCAAGCAATATTCAAAAAAAGATAAAAACACTGACACATTGAGTAAAAAAGAGCTGAAGGAA
CTTCTGGAAAAGGAATTTCGGCAAATCCTGAAGAATCCAGATGACCCAGATATGGTTGATGTCTTCATGGATCACTTGGATATAGACCACAACAAGAAAATTGAC
TTCACTGAGTTTCTTCTGATGGTATTCAAGTTGGCTCAAGCATATTATGAGTCTACCAGAAAAGAGAATTTACCGATATCAGGACACAAGCACAGAAAGCACAGT
CATCATGATAAACATGAAGATAATAAACAGGAAGAAAACAAAGAAAACAGAAAAAGACCCTCAAGTCTGGAAAGAAGAAACAATAGAAAAGGGAATAAGGGAAGA
TCCAAGAGCCCAAGAGAAACAGGGGGGAAAAGGCATGAATCTAGTTCTGAAAAAAAAGAAAGAAAAGGATATTCACCTACTCATAGAGAAGAAGAATATGGAAAA
AACCATCATAACTCAAGTAAAAAAGAGAAAAACAAGACTGAAAATACTAGATTAGGAGACAATAGGAAGAGGCTAAGTGAAAGACTTGAAGAGAAAGAAGACAAT
GAAGAAGGAGTATATGATTATGAAAATACAGGAAGAATGACTCAAAAATGGATACAATCAGGCCATATTGCCACATATTACACAATCCAGGATGAAGCCTATGAC
ACCACTGATAGTCTATTAGAAGAAAACAAAATATATGAAAGATCAAGGTCATCTGATGGCAAATCATCATCTCAAGTGAACAGGTCAAGACATGAAAATACAAGC
CAGGTACCATTGCAGGAGTCCAGGACAAGAAAGCGTAGGGGATCCAGAGTTAGCCAGGACAGGGACAGTGAGGGACACTCAGAAGACTCTGAGAGGCACTCTGGG
TCGGCTTCCAGAAACCATCATGGATCTGCGTGGGAGCAGTCAAGAGATGGCTCCAGACACCCCAGGTCCCATGATGAAGACAGAGCCAGTCATGGGCACTCTGCA
GACAGCTCCAGACAATCAGGCACTCGTCACGCAGAGACTTCCTCTCGTGGACAGACTGCATCATCCCATGAACAGGCAAGATCAAGTCCAGGAGAAAGACATGGA
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>FLG|2312|protein
MSTLLENIFAIINLFKQYSKKDKNTDTLSKKELKELLEKEFRQILKNPDDPDMVDVFMDHLDIDHNKKIDFTEFLLMVFKLAQAYYESTRKENLPISGHKHRKHS
HHDKHEDNKQEENKENRKRPSSLERRNNRKGNKGRSKSPRETGGKRHESSSEKKERKGYSPTHREEEYGKNHHNSSKKEKNKTENTRLGDNRKRLSERLEEKEDN
EEGVYDYENTGRMTQKWIQSGHIATYYTIQDEAYDTTDSLLEENKIYERSRSSDGKSSSQVNRSRHENTSQVPLQESRTRKRRGSRVSQDRDSEGHSEDSERHSG
SASRNHHGSAWEQSRDGSRHPRSHDEDRASHGHSADSSRQSGTRHAETSSRGQTASSHEQARSSPGERHGSGHQQSADSSRHSATGRGQASSAVSDRGHRGSSGS
QASDSEGHSENSDTQSVSGHGKAGLRQQSHQESTRGRSGERSGRSGSSLYQVSTHEQPDSAHGRTGTSTGGRQGSHHEQARDSSRHSASQEGQDTIRGHPGSSRG
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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 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 4 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top