AutismKB 2.0

Evidence Details for HLA-DMA


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Basic Information Top
Gene Symbol:HLA-DMA ( D6S222E,DMA,HLADM,RING6 )
Gene Full Name: major histocompatibility complex, class II, DM alpha
Band: 6p21.32
Quick LinksEntrez ID:3108; OMIM: 142855; Uniprot ID:Q31604_HUMAN; ENSEMBL ID: ENSG00000204257; HGNC ID: 4934
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HLA-DMA|3108|nucleotide
ATGGGTCATGAACAGAACCAAGGAGCTGCGCTGCTACAGATGTTACCACTTCTGTGGCTGCTACCCCACTCCTGGGCCGTCCCTGAAGCTCCTACTCCAATGTGG
CCAGATGACCTGCAAAACCACACATTCCTGCACACAGTGTACTGCCAGGATGGGAGTCCCAGTGTGGGACTCTCTGAGGCCTACGACGAGGACCAGCTTTTCTTC
TTCGACTTTTCCCAGAACACTCGGGTGCCTCGCCTGCCCGAATTTGCTGACTGGGCTCAGGAACAGGGAGATGCTCCTGCCATTTTATTTGACAAAGAGTTCTGC
GAGTGGATGATCCAGCAAATAGGGCCAAAACTTGATGGGAAAATCCCGGTGTCCAGAGGGTTTCCTATCGCTGAAGTGTTCACGCTGAAGCCCCTGGAGTTTGGC
AAGCCCAACACTTTGGTCTGTTTTGTCAGTAATCTCTTCCCACCCATGCTGACAGTGAACTGGCAGCATCATTCCGTCCCTGTGGAAGGATTTGGGCCTACTTTT
GTCTCAGCTGTCGATGGACTCAGCTTCCAGGCCTTTTCTTACTTAAACTTCACACCAGAACCTTCTGACATTTTCTCCTGCATTGTGACTCACGAAATTGACCGC
TACACAGCAATTGCCTATTGGGTACCCCGGAACGCACTGCCCTCAGATCTGCTGGAGAATGTGCTGTGTGGCGTGGCCTTTGGCCTGGGTGTGCTGGGCATCATC
GTGGGCATTGTTCTCATCATCTACTTCCGGAAGCCTTGCTCAGGTGACTGA



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>HLA-DMA|3108|protein
MGHEQNQGAALLQMLPLLWLLPHSWAVPEAPTPMWPDDLQNHTFLHTVYCQDGSPSVGLSEAYDEDQLFFFDFSQNTRVPRLPEFADWAQEQGDAPAILFDKEFC
EWMIQQIGPKLDGKIPVSRGFPIAEVFTLKPLEFGKPNTLVCFVSNLFPPMLTVNWQHHSVPVEGFGPTFVSAVDGLSFQAFSYLNFTPEPSDIFSCIVTHEIDR
YTAIAYWVPRNALPSDLLENVLCGVAFGLGVLGIIVGIVLIIYFRKPCSGD


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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top