AutismKB 2.0

Evidence Details for FBRS


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Basic Information Top
Gene Symbol:FBRS ( FBS,FBS1,FLJ11618 )
Gene Full Name: fibrosin
Band: 16p11.2
Quick LinksEntrez ID:64319; OMIM: 608601; Uniprot ID:FBSH_HUMAN; ENSEMBL ID: ENSG00000156860; HGNC ID: 20442
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FBRS|64319|nucleotide
ATGTTTGAGAAATATCCAGGAAAGATGGAAGGCCTTTTCCGACATAATCCGTACACGGCCTTCCCTCCCGCAGTGCCCGGGCTGCCTCCGGGCCTCCCGCCGGCC
GTCTCCTTTGGCTCCCTGCAGGGGGCCTTCCAGCCCAAGAGCACGAACCCTGAGCTGCCACCACGACTGGGGCCGGTGCCGAGCGGGCTCTCCCAGAAGGGGACA
CAGATCCCCGACCATTTCCGGCCACCTTTGAGGAAACCAGGGAAGTGGTGTGCCATGCACGTGCGTGTGGCTTACATGATCCTGAGACACCAGGAGAAAATGAAG
GGTGACTCCCACAAGCTTGACTTTCGGAATGACCTCCTGCCCTGCCTTCCGGGGCCCTATGGGGCCCTGCCCCCTGGGCAGGAGCTCTCCCACCCGGCCTCCCTC
TTCACTGCGACTGGTGCCGTCCACGCTGCAGCCAACCCTTTCACGGCAGCTCCCGGGGCCCACGGACCCTTCCTGAGCCCCAGCACCCACATTGATCCCTTTGGG
CGTCCCACAAGCTTCGCCTCTTTGGCTGCCCTCTCCAACGGGGCCTTTGGAGGCCTGGGCAGCCCCACATTCAACTCCGGCGCCGTCTTTGCCCAGAAAGAAAGC
CCAGGGGCCCCACCAGCCTTCGCCTCCCCACCGGACCCATGGGGCCGCCTGCACCGCAGTCCTCTGACCTTTCCTGCCTGGGTCCGGCCCCCTGAGGCCGCCCGG
ACTCCAGGCTCAGACAAGGAGCGGCCTGTGGAGCGGAGGGAGCCCTCCATCACCAAGGAGGAGAAGGACAGGGACCTCCCCTTCTCACGGCCCCAGCTCCGAGTT
TCTCCTGCTACTCCCAAGGCCCGGGCTGGTGAGGAGGGGCCTCGGCCAACCAAGGAATCTGTGCGGGTAAAGGAAGAGCGGAAGGAGGAGGCTGCCGCCGCCGCT
GCCGCTGCTGCTGCCGCCGCCGCTGCCGCCGCCGCAGCAGCCACTGGGCCCCAGGGCCTTCACCTGCTGTTTGAGAGGCCCCGGCCGCCCCCGTTTCTGGGCCCT
AGCCCACCAGATCGCTGTGCTGGCTTCCTGGAGCCAACCTGGTTGGCAGCACCCCCACGCCTGGCAAGGCCACCCCGCTTCTATGAGGCGGGTGAGGAGCTAACT
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>FBRS|64319|protein
MFEKYPGKMEGLFRHNPYTAFPPAVPGLPPGLPPAVSFGSLQGAFQPKSTNPELPPRLGPVPSGLSQKGTQIPDHFRPPLRKPGKWCAMHVRVAYMILRHQEKMK
GDSHKLDFRNDLLPCLPGPYGALPPGQELSHPASLFTATGAVHAAANPFTAAPGAHGPFLSPSTHIDPFGRPTSFASLAALSNGAFGGLGSPTFNSGAVFAQKES
PGAPPAFASPPDPWGRLHRSPLTFPAWVRPPEAARTPGSDKERPVERREPSITKEEKDRDLPFSRPQLRVSPATPKARAGEEGPRPTKESVRVKEERKEEAAAAA
AAAAAAAAAAAAAATGPQGLHLLFERPRPPPFLGPSPPDRCAGFLEPTWLAAPPRLARPPRFYEAGEELTGPGAVAAARLYGLEPAHPLLYSRLAPPPPPAAAPG
TPHLLSKTPPGALLGAPPPLVPAPRPSSPPRGPGPARADR
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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) 2 (4) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 14 (6)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top