AutismKB 2.0

Evidence Details for FBLIM1


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Basic Information Top
Gene Symbol:FBLIM1 ( CAL,DKFZp434G171,FBLP-1,FBLP1 )
Gene Full Name: filamin binding LIM protein 1
Band: 1p36.21
Quick LinksEntrez ID:54751; OMIM: 607747; Uniprot ID:FBLI1_HUMAN; ENSEMBL ID: ENSG00000162458; HGNC ID: 24686
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBLIM1|54751|nucleotide
ATGGCCTCAAAGCCTGAGAAGAGGGTGGCATCGTCTGTCTTTATCACCCTGGCACCCCCGCGCCGCGATGTGGCCGTGGCGGAGGAAGTGAGGCAGGCAGTTTGT
GAGGCCCGGCGTGGCCGCCCCTGGGAGGCTCCTGCCCCCATGAAGACACCCGAGGCTGGCTTGGCGGGGAGGCCCAGCCCCTGGACAACCCCTGGCAGAGCTGCA
GCCACAGTGCCGGCTGCACCTATGCAGCTCTTCAATGGAGGATGCCCACCCCCTCCTCCTGTCCTGGATGGTGAGGACGTGCTTCCTGACCTGGACCTCCTCCCA
CCCCCTCCACCGCCCCCTCCAGTGCTTCTGCCTTCTGAAGAGGAGGCTCCTGCTCCAATGGGGGCCTCACTCATTGCAGACTTAGAGCAGCTGCACCTGTCCCCG
CCCCCGCCCCCACCACAGGCCCCAGCGGAGGGACCTTCAGTCCAGCCCGGTCCCCTCAGGCCCATGGAGGAAGAGCTGCCACCTCCCCCGGCAGAACCTGTTGAG
AAAGGGGCATCCACAGACATCTGTGCCTTCTGCCACAAGACCGTGTCCCCCCGAGAGCTGGCTGTGGAGGCCATGAAGAGGCAGTACCATGCCCAGTGCTTCACG
TGCCGCACCTGCCGCCGCCAGCTGGCTGGGCAGAGCTTCTACCAGAAGGATGGGCGACCCCTCTGCGAACCCTGCTACCAGGACACACTGGAGAGGTGCGGCAAG
TGTGGCGAGGTGGTCCGGGACCACATCATCAGGGCCCTGGGCCAGGCCTTCCACCCCTCCTGCTTCACGTGTGTGACCTGCGCCCGGTGCATTGGGGATGAGAGC
TTTGCCCTGGGCAGCCAGAACGAGGTGTACTGCCTGGACGACTTCTACAGGTACGAGAAGGGTTTGTGCACTGGGTGGGGTGCAGGGACAGGGCGAGACCCAAGC
AGGGTGAAGGAGCTGAGCTTGAGTCCTGGGTGCTGGGCCAGAGTTTCCTGTCTACTGGTTTATTATAAAGAATATTACAGGGCTGGGCTGGGCGCGGTGGCTCAC
GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAA
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>FBLIM1|54751|protein
MASKPEKRVASSVFITLAPPRRDVAVAEEVRQAVCEARRGRPWEAPAPMKTPEAGLAGRPSPWTTPGRAAATVPAAPMQLFNGGCPPPPPVLDGEDVLPDLDLLP
PPPPPPPVLLPSEEEAPAPMGASLIADLEQLHLSPPPPPPQAPAEGPSVQPGPLRPMEEELPPPPAEPVEKGASTDICAFCHKTVSPRELAVEAMKRQYHAQCFT
CRTCRRQLAGQSFYQKDGRPLCEPCYQDTLERCGKCGEVVRDHIIRALGQAFHPSCFTCVTCARCIGDESFALGSQNEVYCLDDFYRYEKGLCTGWGAGTGRDPS
RVKELSLSPGCWARVSCLLVYYKEYYRAGLGAVAHACNPSTLGGRGGWITRSGDRDHPG

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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top