AutismKB 2.0

Evidence Details for A1BG


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Basic Information Top
Gene Symbol:A1BG ( A1B,ABG,DKFZp686F0970,GAB,HYST2477 )
Gene Full Name: alpha-1-B glycoprotein
Band: 19q13.43
Quick LinksEntrez ID:1; OMIM: 138670; Uniprot ID:A1BG_HUMAN; ENSEMBL ID: ENSG00000121410; HGNC ID: 5
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>A1BG|1|nucleotide
ATGTCCATGCTCGTGGTCTTTCTCTTGCTGTGGGGTGTCACCTGGGGCCCAGTGACAGAAGCAGCCATATTTTATGAGACGCAGCCCAGCCTGTGGGCAGAGTCC
GAATCACTGCTGAAACCCTTGGCCAATGTGACGCTGACGTGCCAGGCCCACCTGGAGACTCCAGACTTCCAGCTGTTCAAGAATGGGGTGGCCCAGGAGCCTGTG
CACCTTGACTCACCTGCCATCAAGCACCAGTTCCTGCTGACGGGTGACACCCAGGGCCGCTACCGCTGCCGCTCGGGCTTGTCCACAGGATGGACCCAGCTGAGC
AAGCTCCTGGAGCTGACAGGGCCAAAGTCCTTGCCTGCTCCCTGGCTCTCGATGGCGCCAGTGTCCTGGATCACCCCCGGCCTGAAAACAACAGCAGTGTGCCGA
GGTGTGCTGCGGGGTGTGACTTTTCTGCTGAGGCGGGAGGGCGACCATGAGTTTCTGGAGGTGCCTGAGGCCCAGGAGGATGTGGAGGCCACCTTTCCAGTCCAT
CAGCCTGGCAACTACAGCTGCAGCTACCGGACCGATGGGGAAGGCGCCCTCTCTGAGCCCAGCGCTACTGTGACCATTGAGGAGCTCGCTGCACCACCACCGCCT
GTGCTGATGCACCATGGAGAGTCCTCCCAGGTCCTGCACCCTGGCAACAAGGTGACCCTCACCTGCGTGGCTCCCCTGAGTGGAGTGGACTTCCAGCTACGGCGC
GGGGAGAAAGAGCTGCTGGTACCCAGGAGCAGCACCAGCCCAGATCGCATCTTCTTTCACCTGAACGCGGTGGCCCTGGGGGATGGAGGTCACTACACCTGCCGC
TACCGGCTGCATGACAACCAAAACGGCTGGTCCGGGGACAGCGCGCCGGTCGAGCTGATTCTGAGCGATGAGACGCTGCCCGCGCCGGAGTTCTCCCCGGAGCCG
GAGTCCGGCAGGGCCTTGCGGCTGCGGTGCCTGGCGCCCCTGGAGGGCGCGCGCTTCGCCCTGGTGCGCGAGGACAGGGGCGGGCGCCGCGTGCACCGTTTCCAG
AGCCCCGCTGGGACCGAGGCGCTCTTCGAGCTGCACAACATTTCCGTGGCTGACTCCGCCAACTACAGCTGCGTCTACGTGGACCTGAAGCCGCCTTTCGGGGGC
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>A1BG|1|protein
MSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQLFKNGVAQEPVHLDSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLS
KLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVPEAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPP
VLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLVPRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETLPAPEFSPEP
ESGRALRLRCLAPLEGARFALVREDRGGRRVHRFQSPAGTEALFELHNISVADSANYSCVYVDLKPPFGGSAPSERLELHVDGPPPRPQLRATWSGAVLAGRDAV
LRCEGPIPDVTFELLREGETKAVKTVRTPGAAANLELIFVGPQHAGNYRCRYRSWVPHTFESELSDPVELLVAES
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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top