AutismKB 2.0

Evidence Details for UGGT2


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Basic Information Top
Gene Symbol:UGGT2 ( FLJ10873,FLJ11485,HUGT2,MGC117360,MGC150689,MGC87276,UGCGL2,UGT2 )
Gene Full Name: UDP-glucose glycoprotein glucosyltransferase 2
Band: 13q32.1
Quick LinksEntrez ID:55757; OMIM: 605898; Uniprot ID:UGGG2_HUMAN; ENSEMBL ID: ENSG00000102595; HGNC ID: 15664
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UGGT2|55757|nucleotide
ATGGCGCCAGCGAAAGCCACGAACGTGGTGCGGCTGCTACTAGGCTCCACAGCGCTGTGGCTTTCGCAGCTCGGCTCCGGGACGGTCGCCGCGTCCAAGTCGGTG
ACTGCCCACTTGGCCGCGAAGTGGCCCGAGACCCCGCTGCTGCTGGAGGCAAGTGAATTTATGGCAGAAGAAAGTAATGAAAAATTTTGGCAGTTTTTGGAAACT
GTGCAAGAATTAGCAATTTATAAGCAAACAGAATCAGATTATTCTTATTACAACTTAATCCTGAAGAAAGCTGGACAGTTTCTAGACAATTTACACATCAACCTT
TTAAAGTTTGCTTTCTCTATAAGGGCATACTCCCCAGCTATTCAGATGTTTCAGCAGATTGCAGCTGATGAGCCACCACCAGATGGTTGTAATGCATTTGTGGTT
ATTCATAAGAAGCACACCTGTAAAATTAATGAGATTAAAAAGCTGCTGAAGAAAGCTGCTTCAAGGACTAGACCTTATCTATTTAAAGGAGATCACAAATTTCCT
ACAAACAAAGAGAACTTACCAGTGGTGATTCTCTATGCCGAAATGGGTACTAGAACATTTAGTGCATTTCACAAAGTATTGTCTGAAAAAGCTCAAAATGAGGAA
ATTCTGTATGTTCTTCGCCATTATATTCAGAAACCAAGCTCACGGAAAATGTACTTATCTGGGTATGGTGTGGAGCTAGCAATTAAGAGTACAGAATACAAAGCA
CTGGATGATACCCAAGTTAAAACTGTGACTAATACTACTGTAGAGGATGAGACTGAAACAAATGAAGTTCAAGGATTTCTCTTTGGGAAACTAAAAGAAATATAT
TCAGATCTTAGAGATAATCTGACAGCATTCCAAAAATACCTGATTGAGAGTAACAAACAAATGATGCCTTTGAAAGTCTGGGAACTACAAGATCTTAGTTTTCAA
GCAGCTTCTCAAATAATGTCCGCTCCAGTTTATGATTCCATTAAATTAATGAAAGACATTTCACAGAACTTCCCCATAAAAGCCAGATCTCTAACCAGAATTGCT
GTAAATCAACATATGAGAGAAGAAATAAAGGAAAATCAAAAGGATCTTCAAGTTAGATTTAAAATTCAGCCAGGCGATGCTCGTCTATTTATAAATGGCCTTCGT
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>UGGT2|55757|protein
MAPAKATNVVRLLLGSTALWLSQLGSGTVAASKSVTAHLAAKWPETPLLLEASEFMAEESNEKFWQFLETVQELAIYKQTESDYSYYNLILKKAGQFLDNLHINL
LKFAFSIRAYSPAIQMFQQIAADEPPPDGCNAFVVIHKKHTCKINEIKKLLKKAASRTRPYLFKGDHKFPTNKENLPVVILYAEMGTRTFSAFHKVLSEKAQNEE
ILYVLRHYIQKPSSRKMYLSGYGVELAIKSTEYKALDDTQVKTVTNTTVEDETETNEVQGFLFGKLKEIYSDLRDNLTAFQKYLIESNKQMMPLKVWELQDLSFQ
AASQIMSAPVYDSIKLMKDISQNFPIKARSLTRIAVNQHMREEIKENQKDLQVRFKIQPGDARLFINGLRVDMDVYDAFSILDMLKLEGKMMNGLRNLGINGEDM
SKFLKLNSHIWEYTYVLDIRHSSIMWINDLENDDLYITWPTSCQKLLKPVFPGSVPSIRRNFHNLVLFIDPAQEYTLDFIKLADVFYSHEVPLRIGFVFILNTDD
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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 (2) 1 (1) 0 (0) 1 (1) 1 (1) 2 (2) 0 (0) 0 (0) 15 (7)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top