AutismKB 2.0

Evidence Details for B4GALT3


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Basic Information Top
Gene Symbol:B4GALT3 ( beta4Gal-T3 )
Gene Full Name: UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3
Band: 1q23.3
Quick LinksEntrez ID:8703; OMIM: 604014; Uniprot ID:B4GT3_HUMAN; ENSEMBL ID: ENSG00000158850; HGNC ID: 926
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>B4GALT3|8703|nucleotide
ATGTTGCGGAGGCTGCTGGAGCGGCCTTGCACGCTGGCCCTGCTTGTGGGCTCCCAGCTGGCTGTCATGATGTACCTGTCACTGGGGGGCTTCCGAAGTCTCAGT
GCCCTATTTGGCCGAGATCAGGGACCGACATTTGACTATTCTCACCCTCGTGATGTCTACAGTAACCTCAGTCACCTGCCTGGGGCCCCAGGGGGTCCTCCAGCT
CCTCAAGGTCTGCCCTACTGTCCAGAACGATCTCCTCTCTTAGTGGGTCCTGTGTCGGTGTCCTTTAGCCCAGTGCCATCACTGGCAGAGATTGTGGAGCGGAAT
CCCCGGGTAGAACCAGGGGGCCGGTACCGCCCTGCAGGTTGTGAGCCCCGCTCCCGAACAGCCATCATTGTGCCTCATCGTGCCCGGGAGCACCACCTGCGCCTG
CTGCTCTACCACCTGCACCCCTTCTTGCAGCGCCAGCAGCTTGCTTATGGCATCTATGTCATCCACCAGGCTGGAAATGGAACATTTAACAGGGCAAAACTGTTG
AACGTTGGGGTGCGAGAGGCCCTGCGTGATGAAGAGTGGGACTGCCTGTTCTTGCACGATGTGGACCTCTTGCCAGAAAATGACCACAATCTGTATGTGTGTGAC
CCCCGGGGACCCCGCCATGTTGCCGTTGCTATGAACAAGTTTGGATACAGCCTCCCGTACCCCCAGTACTTCGGAGGAGTCTCAGCACTTACTCCTGACCAGTAC
CTGAAGATGAATGGCTTCCCCAATGAATACTGGGGCTGGGGTGGTGAGGATGACGACATTGCTACCAGGGTGCGCCTGGCTGGGATGAAGATCTCTCGGCCCCCC
ACATCTGTAGGACACTATAAGATGGTGAAGCACCGAGGAGATAAGGGCAATGAGGAAAATCCCCACAGATTTGACCTCCTGGTCCGTACCCAGAATTCCTGGACG
CAAGATGGGATGAACTCACTGACATACCAGTTGCTGGCTCGAGAGCTGGGGCCTCTTTATACCAACATCACAGCAGACATTGGGACTGACCCTCGGGGTCCTCGG
GCTCCTTCTGGGCCACGTTACCCACCTGGTTCCTCCCAAGCCTTCCGTCAAGAGATGCTGCAACGCCGGCCCCCAGCCAGGCCTGGGCCTCTATCTACTGCCAAC
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>B4GALT3|8703|protein
MLRRLLERPCTLALLVGSQLAVMMYLSLGGFRSLSALFGRDQGPTFDYSHPRDVYSNLSHLPGAPGGPPAPQGLPYCPERSPLLVGPVSVSFSPVPSLAEIVERN
PRVEPGGRYRPAGCEPRSRTAIIVPHRAREHHLRLLLYHLHPFLQRQQLAYGIYVIHQAGNGTFNRAKLLNVGVREALRDEEWDCLFLHDVDLLPENDHNLYVCD
PRGPRHVAVAMNKFGYSLPYPQYFGGVSALTPDQYLKMNGFPNEYWGWGGEDDDIATRVRLAGMKISRPPTSVGHYKMVKHRGDKGNEENPHRFDLLVRTQNSWT
QDGMNSLTYQLLARELGPLYTNITADIGTDPRGPRAPSGPRYPPGSSQAFRQEMLQRRPPARPGPLSTANHTALRGSH

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (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
Woodbury-Smith M, 2017 - MicroarrayASD - - - - 1 - -
Linkage Studies Top