AutismKB 2.0

Evidence Details for MGAT4B


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Basic Information Top
Gene Symbol:MGAT4B ( GNT-IV,GNT-IVB )
Gene Full Name: mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B
Band: 5q35.3
Quick LinksEntrez ID:11282; OMIM: 604561; Uniprot ID:MGT4B_HUMAN; ENSEMBL ID: ENSG00000161013; HGNC ID: 7048
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MGAT4B|11282|nucleotide
ATGAGGCTCCGCAATGGCACCTTCCTGACGCTGCTGCTCTTCTGCCTGTGCGCCTTCCTCTCGCTGTCCTGGTACGCGGCACTCAGCGGCCAGAAAGGCGACGTT
GTGGACGTTTACCAGCGGGAGTTCCTGGCGCTGCGCGATCGGTTGCACGCAGCTGAGCAGGAGAGCCTCAAGCGCTCCAAGGAGCTCAACCTGGTGCTGGACGAG
ATCAAGAGGGCCGTGTCAGAAAGGCAGGCGCTGCGAGACGGAGACGGCAATCGCACCTGGGGCCGCCTAACAGAGGACCCCCGATTGAAGCCGTGGAACGGCTCA
CACCGGCACGTGCTGCACCTGCCCACCGTCTTCCATCACCTGCCACACCTGCTGGCCAAGGAGAGCAGTCTGCAGCCCGCGGTGCGCGTGGGCCAGGGCCGCACC
GGAGTGTCGGTGGTGATGGGCATCCCGAGCGTGCGGCGCGAGGTGCACTCGTACCTGACTGACACTCTGCACTCGCTCATCTCCGAGCTGAGCCCGCAGGAGAAG
GAGGACTCGGTCATCGTGGTGCTGATCGCCGAGACTGACTCACAGTACACTTCGGCAGTGACAGAGAACATCAAGGCCTTGTTCCCCACGGAGATCCATTCTGGG
CTCCTGGAGGTCATCTCACCCTCCCCCCACTTCTACCCTGACTTCTCCCGCCTCCGAGAGTCCTTTGGGGACCCCAAGGAGAGAGTCAGGTGGAGGACCAAACAG
AACCTCGATTACTGCTTCCTCATGATGTACGCGCAGTCCAAAGGCATCTACTACGTGCAGCTGGAGGATGACATCGTGGCCAAGCCCAACTACCTGAGCACCATG
AAGAACTTTGCACTGCAGCAGCCTTCAGAGGACTGGATGATCCTGGAGTTCTCCCAGCTGGGCTTCATTGGTAAGATGTTCAAGTCGCTGGACCTGAGCCTGATT
GTAGAGTTCATTCTCATGTTCTACCGGGACAAGCCCATCGACTGGCTCCTGGACCATATTCTGTGGGTGAAAGTCTGCAACCCCGAGAAGGATGCGAAGCACTGT
GACCGGCAGAAAGCCAACCTGCGGATCCGCTTCAAACCGTCCCTCTTCCAGCACGTGGGCACTCACTCCTCGCTGGCTGGCAAGATCCAGAAACTGAAGGACAAA
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>MGAT4B|11282|protein
MRLRNGTFLTLLLFCLCAFLSLSWYAALSGQKGDVVDVYQREFLALRDRLHAAEQESLKRSKELNLVLDEIKRAVSERQALRDGDGNRTWGRLTEDPRLKPWNGS
HRHVLHLPTVFHHLPHLLAKESSLQPAVRVGQGRTGVSVVMGIPSVRREVHSYLTDTLHSLISELSPQEKEDSVIVVLIAETDSQYTSAVTENIKALFPTEIHSG
LLEVISPSPHFYPDFSRLRESFGDPKERVRWRTKQNLDYCFLMMYAQSKGIYYVQLEDDIVAKPNYLSTMKNFALQQPSEDWMILEFSQLGFIGKMFKSLDLSLI
VEFILMFYRDKPIDWLLDHILWVKVCNPEKDAKHCDRQKANLRIRFKPSLFQHVGTHSSLAGKIQKLKDKDFGKQALRKEHVNPPAEVSTSLKTYQHFTLEKAYL
REDFFWAFTPAAGDFIRFRFFQPLRLERFFFRSGNIEHPEDKLFNTSVEVLPFDNPQSDKEALQEGRTATLRYPRSPDGYLQIGSFYKGVAEGEVDPAFGPLEAL
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top