AutismKB 2.0

Evidence Details for HAL


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Basic Information Top
Gene Symbol:HAL ( HIS,HSTD )
Gene Full Name: histidine ammonia-lyase
Band: 12q23.1
Quick LinksEntrez ID:3034; OMIM: 609457; Uniprot ID:HUTH_HUMAN; ENSEMBL ID: ENSG00000084110; HGNC ID: 4806
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HAL|3034|nucleotide
ATGCCCAGATACACGGTGCACGTACGTGGGGAATGGCTGGCAGTGCCCTGCCAGGACGCGCAGCTCACTGTGGGCTGGCTGGGCCGGGAGGCCGTGAGGCGCTAT
ATCAAGAATAAGCCCGACAATGGTGGCTTCACCTCCGTGGATGACGCGCACTTCCTTGTGCGCCGGTGCAAGGGCCTGGGCCTGCTGGACAACGAGGACCGGCTC
GAGGTGGCCCTAGAGAACAACGAGTTCGTGGAAGTGGTTATAGAGGGTGATGCCATGTCTCCTGACTTCATTCCATCTCAACCAGAAGGAGTTTATCTATACAGC
AAGTACCGGGAGCCTGAAAAGTACATCGAGTTAGATGGAGACCGTCTGACCACGGAGGATCTGGTCAACTTGGGAAAGGGACGCTACAAAATAAAGCTCACCCCA
ACAGCTGAGAAGAGGGTGCAGAAATCCAGGGAGGTCATAGATAGCATCATAAAAGAGAAAACAGTTGTTTACGGTATTACTACAGGTTTTGGGAAATTTGCCAGA
ACTGTAATTCCTATCAATAAGCTACAGGAGCTTCAGGTCAACTTAGTACGCTCACATTCTTCAGGTGTTGGGAAACCACTAAGTCCTGAGAGGTGTCGGATGCTC
TTGGCTTTAAGGATCAATGTCTTAGCCAAAGGATACAGTGGCATTTCCCTGGAGACCCTCAAACAAGTCATAGAAATGTTTAATGCCTCCTGCCTGCCCTATGTC
CCAGAGAAAGGAACCGTTGGTGCCAGTGGAGACCTTGCCCCACTCTCTCATCTTGCTCTTGGGCTAGTTGGAGAAGGGAAGATGTGGTCTCCGAAGAGTGGCTGG
GCTGATGCTAAATACGTGCTAGAAGCCCATGGATTGAAACCAGTTATTTTAAAACCAAAAGAGGGCCTGGCACTCATCAATGGGACGCAGATGATCACATCCCTG
GGCTGTGAAGCTGTAGAGCGAGCCAGTGCTATTGCACGGCAGGCTGACATTGTGGCAGCCCTGACCCTTGAGGTGCTGAAGGGCACCACCAAAGCCTTTGACACT
GACATTCATGCTCTTCGACCTCACCGTGGGCAAATTGAAGTTGCTTTTCGGTTTCGGTCACTCTTGGACTCAGATCACCACCCATCAGAAATAGCAGAGAGTCAC
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>HAL|3034|protein
MPRYTVHVRGEWLAVPCQDAQLTVGWLGREAVRRYIKNKPDNGGFTSVDDAHFLVRRCKGLGLLDNEDRLEVALENNEFVEVVIEGDAMSPDFIPSQPEGVYLYS
KYREPEKYIELDGDRLTTEDLVNLGKGRYKIKLTPTAEKRVQKSREVIDSIIKEKTVVYGITTGFGKFARTVIPINKLQELQVNLVRSHSSGVGKPLSPERCRML
LALRINVLAKGYSGISLETLKQVIEMFNASCLPYVPEKGTVGASGDLAPLSHLALGLVGEGKMWSPKSGWADAKYVLEAHGLKPVILKPKEGLALINGTQMITSL
GCEAVERASAIARQADIVAALTLEVLKGTTKAFDTDIHALRPHRGQIEVAFRFRSLLDSDHHPSEIAESHRFCDRVQDAYTLRCCPQVHGVVNDTIAFVKNIITT
ELNSATDNPMVFANRGETVSGGNFHGEYPAKALDYLAIGIHELAAISERRIERLCNPSLSELPAFLVAEGGLNSGFMIAHCTAAALVSENKALCHPSSVDSLSTS
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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) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top