AutismKB 2.0

Evidence Details for AGA


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Basic Information Top
Gene Symbol:AGA ( AGU,ASRG,GA )
Gene Full Name: aspartylglucosaminidase
Band: 4q34.3
Quick LinksEntrez ID:175; OMIM: 613228; Uniprot ID:ASPG_HUMAN; ENSEMBL ID: ENSG00000038002; HGNC ID: 318
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AGA|175|nucleotide
ATGGCGCGGAAGTCGAACTTGCCTGTGCTTCTCGTGCCGTTTCTGCTCTGCCAGGCCCTAGTGCGCTGCTCCAGCCCTCTGCCCCTGGTCGTCAACACTTGGCCC
TTTAAGAATGCAACCGAAGCAGCGTGGAGGGCATTAGCATCTGGAGGCTCTGCCCTGGATGCAGTGGAGAGCGGCTGTGCCATGTGTGAGAGAGAGCAGTGTGAC
GGCTCTGTAGGCTTTGGAGGAAGTCCTGATGAACTTGGAGAAACCACACTAGATGCCATGATCATGGATGGCACTACTATGGATGTAGGAGCAGTAGGAGATCTC
AGACGAATTAAAAATGCTATTGGTGTGGCACGGAAAGTACTGGAACATACAACACACACACTTTTAGTAGGAGAGTCAGCCACCACATTTGCTCAAAGTATGGGG
TTTATCAATGAAGACTTATCTACCACTGCTTCTCAAGCTCTTCATTCAGATTGGCTTGCTCGGAATTGCCAGCCAAATTATTGGAGGAATGTTATACCAGATCCC
TCAAAATACTGCGGACCCTACAAACCACCTGGTATCTTAAAGCAGGATATTCCTATCCATAAAGAAACAGAAGATGATCGTGGTCATGACACTATTGGCATGGTT
GTAATCCATAAGACAGGACATATTGCTGCTGGTACATCTACAAATGGTATAAAATTCAAAATACATGGCCGTGTAGGAGACTCACCAATACCTGGAGCTGGAGCC
TATGCTGACGATACTGCAGGGGCAGCCGCAGCCACTGGGAATGGTGATATATTGATGCGCTTCCTGCCAAGCTACCAAGCTGTAGAATACATGAGAAGAGGAGAA
GATCCAACCATAGCTTGCCAAAAAGTGATTTCAAGAATCCAGAAGCATTTTCCAGAATTCTTTGGGGCTGTTATATGTGCCAATGTGACTGGAAGTTACGGTGCT
GCTTGCAATAAACTTTCAACATTTACTCAGTTTAGTTTCATGGTTTATAATTCCGAAAAAAATCAGCCAACTGAGGAAAAAGTGGACTGCATCTAA

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>AGA|175|protein
MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESGCAMCEREQCDGSVGFGGSPDELGETTLDAMIMDGTTMDVGAVGDL
RRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTTASQALHSDWLARNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMV
VIHKTGHIAAGTSTNGIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGEDPTIACQKVISRIQKHFPEFFGAVICANVTGSYGA
ACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI

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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 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top