AutismKB 2.0

Evidence Details for AHSG


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Basic Information Top
Gene Symbol:AHSG ( A2HS,AHS,FETUA,HSGA )
Gene Full Name: alpha-2-HS-glycoprotein
Band: 3q27.3
Quick LinksEntrez ID:197; OMIM: 138680; Uniprot ID:FETUA_HUMAN; ENSEMBL ID: ENSG00000145192; HGNC ID: 349
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AHSG|197|nucleotide
ATGAAGTCCCTCGTCCTGCTCCTTTGTCTTGCTCAGCTCTGGGGCTGCCACTCAGCCCCACATGGCCCAGGGCTGATTTATAGACAACCGAACTGCGATGATCCA
GAAACTGAGGAAGCAGCTCTGGTGGCTATAGACTACATCAATCAAAACCTTCCTTGGGGATACAAACACACCTTGAACCAGATTGATGAAGTAAAGGTGTGGCCT
CAGCAGCCCTCCGGAGAGCTGTTTGAGATTGAAATAGACACCCTGGAAACCACCTGCCATGTGCTGGACCCCACCCCTGTGGCAAGATGCAGCGTGAGGCAGCTG
AAGGAGCATGCTGTCGAAGGAGACTGTGATTTCCAGCTGTTGAAACTAGATGGCAAGTTTTCCGTGGTATACGCAAAATGTGATTCCAGTCCAGACTCAGCCGAG
GACGTGCGCAAGGTGTGCCAAGACTGCCCCCTGCTGGCCCCGCTGAACGACACCAGGGTGGTGCACGCCGCGAAAGCTGCCCTGGCCGCCTTCAACGCTCAGAAC
AACGGCTCCAATTTTCAGCTGGAGGAAATTTCCCGGGCTCAGCTTGTGCCCCTCCCACCTTCTACCTATGTGGAGTTTACAGTGTCTGGCACTGACTGTGTTGCT
AAAGAGGCCACAGAGGCAGCCAAGTGTAACCTGCTGGCAGAAAAGCAATATGGCTTTTGTAAGGCAACACTCAGTGAGAAGCTTGGTGGGGCAGAGGTTGCAGTG
ACCTGCATGGTGTTCCAAACACAGCCCGTGAGCTCACAGCCCCAACCAGAAGGTGCCAATGAAGCAGTCCCCACACCCGTGGTGGACCCAGATGCACCTCCGTCC
CCTCCACTTGGCGCACCTGGACTCCCTCCAGCTGGCTCACCCCCAGACTCCCATGTGTTACTGGCAGCTCCTCCAGGACACCAGTTGCACCGGGCGCACTACGAC
CTGCGCCACACCTTCATGGGTGTGGTCTCATTGGGGTCACCCTCAGGAGAAGTGTCGCACCCCCGGAAAACACGCACAGTGGTGCAGCCTAGTGTTGGTGCTGCT
GCTGGGCCAGTGGTTCCTCCATGTCCGGGGAGGATCAGACACTTCAAGGTCTAG
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>AHSG|197|protein
MKSLVLLLCLAQLWGCHSAPHGPGLIYRQPNCDDPETEEAALVAIDYINQNLPWGYKHTLNQIDEVKVWPQQPSGELFEIEIDTLETTCHVLDPTPVARCSVRQL
KEHAVEGDCDFQLLKLDGKFSVVYAKCDSSPDSAEDVRKVCQDCPLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQLEEISRAQLVPLPPSTYVEFTVSGTDCVA
KEATEAAKCNLLAEKQYGFCKATLSEKLGGAEVAVTCMVFQTQPVSSQPQPEGANEAVPTPVVDPDAPPSPPLGAPGLPPAGSPPDSHVLLAAPPGHQLHRAHYD
LRHTFMGVVSLGSPSGEVSHPRKTRTVVQPSVGAAAGPVVPPCPGRIRHFKV

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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 (2) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top