AutismKB 2.0

Evidence Details for B4GALNT1


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Basic Information Top
Gene Symbol:B4GALNT1 ( GALGT,GALNACT )
Gene Full Name: beta-1,4-N-acetyl-galactosaminyl transferase 1
Band: 12q13.3
Quick LinksEntrez ID:2583; OMIM: 601873; Uniprot ID:B4GN1_HUMAN; ENSEMBL ID: ENSG00000135454; HGNC ID: 4117
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>B4GALNT1|2583|nucleotide
ATGTGGCTGGGCCGCCGGGCCCTGTGCGCTCTGGTCCTTCTGCTCGCCTGCGCCTCGCTGGGGCTCCTGTACGCGAGCACCCGGGACGCGCCCGGCCTCCGGCTA
CCTCTTGCGCCGTGGGCGCCCCCGCAAAGCCCCCGCAGGCCCGAGCTGCCAGATCTTGCTCCTGAGCCCCGCTACGCACACATCCCGGTCAGGATCAAGGAGCAA
GTAGTGGGGCTGCTGGCTTGGAACAACTGCAGTTGTGAGTCCAGTGGGGGGGGCCTCCCCCTCCCCTTCCAGAAACAAGTCCGAGCTATTGACCTCACCAAGGCC
TTTGACCCTGCAGAGCTGAGGGCTGCCTCTGCCACAAGAGAGCAGGAGTTCCAGGCCTTTCTGTCGAGGAGCCAGTCCCCAGCTGACCAGCTGCTCATAGCCCCT
GCCAACTCCCCGCTCCAGTACCCCCTACAGGGTGTGGAAGTTCAGCCCCTCAGGAGCATCTTGGTGCCAGGGCTGAGCCTTCAGGCAGCTTCTGGTCAGGAGGTA
TACCAGGTGAACCTGACTGCCTCCCTAGGCACCTGGGACGTGGCAGGGGAAGTGACTGGAGTTACTCTCACTGGAGAGGGTCAGGCAGATCTCACCCTTGTCAGC
CCAGGGCTGGACCAACTCAACAGGCAACTACAACTGGTCACTTACAGCAGCCGAAGCTACCAGACCAACACAGCAGACACAGTCCGGTTCTCCACCGAGGGACAT
GAGGCTGCTTTCACTATCCGCATAAGACACCCGCCCAACCCTCGGCTGTACCCACCTGGGTCTCTACCCCAGGGAGCCCAGTACAACATCAGCGCTCTAGTCACG
ATTGCCACCAAGACCTTCCTCCGTTATGATCGGCTACGGGCTCTCATCACCAGTATCCGCCGCTTCTACCCAACGGTTACCGTGGTCATCGCTGACGACAGCGAC
AAGCCAGAGCGCGTTAGTGGCCCCTACGTGGAACACTATCTCATGCCCTTCGGCAAGGGCTGGTTCGCAGGCCGGAACCTGGCCGTGTCTCAAGTAACCACCAAG
TACGTGCTGTGGGTGGACGACGACTTCGTCTTCACGGCGCGGACGCGGCTGGAGAGGCTTGTGGACGTGCTGGAGCGGACGCCGCTGGACCTGGTGGGGGGCGCG
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>B4GALNT1|2583|protein
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCESSGGGLPLPFQKQVRAIDLTKA
FDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVS
PGLDQLNRQLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSD
KPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFH
HELVGFPGCVVTDGVVNFFLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKH
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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 (3) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top