AutismKB 2.0

Evidence Details for UGCG


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Basic Information Top
Gene Symbol:UGCG ( GCS,GLCT1 )
Gene Full Name: UDP-glucose ceramide glucosyltransferase
Band: 9q31.3
Quick LinksEntrez ID:7357; OMIM: 602874; Uniprot ID:CEGT_HUMAN; ENSEMBL ID: ENSG00000148154; HGNC ID: 12524
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UGCG|7357|nucleotide
ATGGCGCTGCTGGACCTGGCCTTGGAGGGAATGGCCGTCTTCGGGTTCGTCCTCTTCTTGGTGCTGTGGCTGATGCATTTCATGGCTATCATCTACACCCGATTA
CACCTCAACAAGAAGGCAACTGACAAACAGCCTTATAGCAAGCTCCCAGGTGTCTCTCTTCTGAAACCACTGAAAGGGGTAGATCCTAACTTAATCAACAACCTG
GAAACATTCTTTGAATTGGATTATCCCAAATATGAAGTGCTCCTTTGTGTACAAGATCATGATGATCCAGCCATTGATGTATGTAAGAAGCTTCTTGGAAAATAT
CCAAATGTTGATGCTAGATTGTTTATAGGTGGTAAAAAAGTTGGCATTAATCCTAAAATTAATAATTTAATGCCAGGATATGAAGTTGCAAAGTATGATCTTATA
TGGATTTGTGATAGTGGAATAAGAGTAATTCCAGATACGCTTACTGACATGGTGAATCAAATGACAGAAAAAGTAGGCTTGGTTCACGGGCTGCCTTACGTAGCA
GACAGACAGGGCTTTGCTGCCACCTTAGAGCAGGTATATTTTGGAACTTCACATCCAAGATACTATATCTCTGCCAATGTAACTGGTTTCAAATGTGTGACAGGA
ATGTCTTGTTTAATGAGAAAAGATGTGTTGGATCAAGCAGGAGGACTTATAGCTTTTGCTCAGTACATTGCCGAAGATTACTTTATGGCCAAAGCGATAGCTGAC
CGAGGTTGGAGGTTTGCAATGTCCACTCAAGTTGCAATGCAAAACTCTGGCTCATATTCAATTTCTCAGTTTCAATCCAGAATGATCAGGTGGACCAAACTACGA
ATTAACATGCTTCCTGCTACAATAATTTGTGAGCCAATTTCAGAATGCTTTGTTGCCAGTTTAATTATTGGATGGGCAGCCCACCATGTGTTCAGATGGGATATT
ATGGTATTTTTCATGTGTCATTGCCTGGCATGGTTTATATTTGACTACATTCAACTCAGGGGTGTCCAGGGTGGCACACTGTGTTTTTCAAAACTTGATTATGCA
GTCGCCTGGTTCATCCGCGAATCCATGACAATATACATTTTTTTGTCTGCATTATGGGACCCAACTATAAGCTGGAGAACTGGTCGCTACAGATTACGCTGTGGG
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>UGCG|7357|protein
MALLDLALEGMAVFGFVLFLVLWLMHFMAIIYTRLHLNKKATDKQPYSKLPGVSLLKPLKGVDPNLINNLETFFELDYPKYEVLLCVQDHDDPAIDVCKKLLGKY
PNVDARLFIGGKKVGINPKINNLMPGYEVAKYDLIWICDSGIRVIPDTLTDMVNQMTEKVGLVHGLPYVADRQGFAATLEQVYFGTSHPRYYISANVTGFKCVTG
MSCLMRKDVLDQAGGLIAFAQYIAEDYFMAKAIADRGWRFAMSTQVAMQNSGSYSISQFQSRMIRWTKLRINMLPATIICEPISECFVASLIIGWAAHHVFRWDI
MVFFMCHCLAWFIFDYIQLRGVQGGTLCFSKLDYAVAWFIRESMTIYIFLSALWDPTISWRTGRYRLRCGGTAEEILDV

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top