AutismKB 2.0

Evidence Details for UGT2B4


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Basic Information Top
Gene Symbol:UGT2B4 ( HLUG25,UDPGT2B4,UDPGTH1,UGT2B11 )
Gene Full Name: UDP glucuronosyltransferase 2 family, polypeptide B4
Band: 4q13.3
Quick LinksEntrez ID:7363; OMIM: 600067; Uniprot ID:UD2B4_HUMAN; ENSEMBL ID: ENSG00000156096; HGNC ID: 12553
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UGT2B4|7363|nucleotide
ATGTCTATGAAATGGACTTCAGCTCTTCTGCTGATACAGCTGAGCTGTTACTTTAGCTCTGGGAGTTGTGGAAAGGTGCTGGTGTGGCCCACAGAATTCAGCCAC
TGGATGAATATAAAGACAATCCTGGATGAACTTGTCCAGAGAGGTCATGAGGTGACTGTATTGGCATCTTCAGCTTCCATTTCTTTCGATCCCAACAGCCCATCT
ACTCTTAAATTTGAAGTTTATCCTGTATCTTTAACTAAAACTGAGTTTGAGGATATTATCAAGCAGCTGGTTAAGAGATGGGCAGAACTTCCAAAAGACACATTT
TGGTCATATTTTTCACAAGTACAAGAAATCATGTGGACATTTAATGACATACTTAGAAAGTTCTGTAAGGATATAGTTTCAAATAAGAAACTTATGAAGAAACTA
CAGGAGTCAAGATTTGATGTTGTTCTTGCAGATGCTGTTTTCCCCTTTGGTGAGCTGCTGGCCGAGTTACTTAAAATACCCTTTGTCTACAGCCTCCGCTTCTCT
CCTGGCTACGCAATTGAAAAGCATAGTGGAGGACTTCTGTTCCCTCCTTCCTATGTGCCTGTTGTTATGTCAGAACTAAGTGACCAAATGACTTTCATAGAGAGG
GTAAAAAATATGATCTATGTGCTTTATTTTGAATTTTGGTTCCAAATATTTGACATGAAGAAGTGGGATCAGTTCTACAGTGAAGTTCTAGGAAGACCCACTACG
TTATCTGAGACAATGGCAAAAGCTGACATATGGCTTATTCGAAACTACTGGGATTTTCAATTTCCTCACCCACTCTTACCAAATGTTGAGTTCGTTGGAGGACTC
CACTGCAAACCTGCCAAACCCCTACCGAAGGAAATGGAAGAGTTTGTCCAGAGCTCTGGAGAAAATGGTGTTGTGGTGTTTTCTCTGGGGTCGATGGTCAGTAAC
ACGTCAGAAGAAAGGGCCAATGTAATTGCATCAGCCCTTGCCAAGATCCCACAAAAGGTTCTGTGGAGATTTGATGGGAATAAACCAGATACTTTAGGACTCAAT
ACTCGGCTGTACAAGTGGATACCCCAGAATGATCTTCTTGGTCACCCAAAAACCAGAGCTTTTATAACTCATGGTGGAGCCAATGGCATCTATGAGGCAATCTAC
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>UGT2B4|7363|protein
MSMKWTSALLLIQLSCYFSSGSCGKVLVWPTEFSHWMNIKTILDELVQRGHEVTVLASSASISFDPNSPSTLKFEVYPVSLTKTEFEDIIKQLVKRWAELPKDTF
WSYFSQVQEIMWTFNDILRKFCKDIVSNKKLMKKLQESRFDVVLADAVFPFGELLAELLKIPFVYSLRFSPGYAIEKHSGGLLFPPSYVPVVMSELSDQMTFIER
VKNMIYVLYFEFWFQIFDMKKWDQFYSEVLGRPTTLSETMAKADIWLIRNYWDFQFPHPLLPNVEFVGGLHCKPAKPLPKEMEEFVQSSGENGVVVFSLGSMVSN
TSEERANVIASALAKIPQKVLWRFDGNKPDTLGLNTRLYKWIPQNDLLGHPKTRAFITHGGANGIYEAIYHGIPMVGVPLFADQPDNIAHMKAKGAAVSLDFHTM
SSTDLLNALKTVINDPLYKENAMKLSRIHHDQPVKPLDRAVFWIEFVMRHKGAKHLRVAAHDLTWFQYHSLDVTGFLLACVATVIFIITKCLFCVWKFVRTGKKG
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top