AutismKB 2.0

Evidence Details for A4GNT


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Basic Information Top
Gene Symbol:A4GNT ( MGC149493,alpha4GnT )
Gene Full Name: alpha-1,4-N-acetylglucosaminyltransferase
Band: 3q22.3
Quick LinksEntrez ID:51146; OMIM: NA; Uniprot ID:A4GCT_HUMAN; ENSEMBL ID: ENSG00000118017; HGNC ID: 17968
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>A4GNT|51146|nucleotide
ATGCGGAAGGAGCTCCAGCTCTCCCTGTCAGTCACCTTGCTGCTTGTCTGTGGCTTCCTCTACCAGTTCACCCTGAAGTCCAGCTGCCTCTTCTGTTTGCCTTCT
TTCAAGTCCCACCAGGGGCTGGAAGCCCTCCTGAGCCACAGACGTGGCATTGTGTTTCTAGAGACCTCAGAGAGAATGGAGCCACCCCATTTGGTCTCCTGTTCC
GTAGAGTCTGCTGCCAAGATTTATCCTGAGTGGCCTGTGGTGTTCTTTATGAAGGGTCTTACTGATTCCACACCGATGCCCTCAAACTCCACATACCCAGCTTTT
TCCTTCCTGTCAGCAATAGACAACGTTTTCCTCTTCCCTTTGGATATGAAAAGGCTGCTTGAAGACACACCATTGTTTTCATGGTACAATCAAATCAACGCCAGC
GCAGAGAGAAACTGGCTCCACATCAGCTCGGATGCATCCCGCCTGGCCATCATCTGGAAATACGGTGGCATCTACATGGACACCGATGTCATCTCCATCAGGCCC
ATCCCTGAGGAGAACTTTTTGGCTGCGCAGGCTTCTCGGTACTCTAGTAATGGAATATTTGGGTTCCTCCCCCACCACCCCTTTTTGTGGGAATGCATGGAAAAC
TTTGTTGAACACTATAATTCAGCCATTTGGGGCAACCAAGGCCCTGAGTTGATGACAAGGATGTTGAGGGTATGGTGTAAACTTGAAGACTTCCAGGAGGTGAGC
GACCTCAGGTGTCTGAACATATCCTTCTTACACCCCCAAAGATTTTACCCCATCTCCTATCGAGAGTGGAGGCGCTACTATGAAGTGTGGGATACAGAGCCAAGC
TTCAATGTCTCTTATGCCCTGCATTTGTGGAACCACATGAACCAGGAGGGGCGGGCTGTGATTAGAGGAAGCAACACACTGGTGGAAAATCTCTATCGCAAGCAC
TGTCCCAGGACTTACAGGGACCTGATTAAAGGCCCAGAGGGGTCAGTGACTGGGGAGCTGGGTCCAGGTAACAAATAA

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>A4GNT|51146|protein
MRKELQLSLSVTLLLVCGFLYQFTLKSSCLFCLPSFKSHQGLEALLSHRRGIVFLETSERMEPPHLVSCSVESAAKIYPEWPVVFFMKGLTDSTPMPSNSTYPAF
SFLSAIDNVFLFPLDMKRLLEDTPLFSWYNQINASAERNWLHISSDASRLAIIWKYGGIYMDTDVISIRPIPEENFLAAQASRYSSNGIFGFLPHHPFLWECMEN
FVEHYNSAIWGNQGPELMTRMLRVWCKLEDFQEVSDLRCLNISFLHPQRFYPISYREWRRYYEVWDTEPSFNVSYALHLWNHMNQEGRAVIRGSNTLVENLYRKH
CPRTYRDLIKGPEGSVTGELGPGNK

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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top