AutismKB 2.0

Evidence Details for UBE2T


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Basic Information Top
Gene Symbol:UBE2T ( PIG50 )
Gene Full Name: ubiquitin-conjugating enzyme E2T (putative)
Band: 1q32.1
Quick LinksEntrez ID:29089; OMIM: 610538; Uniprot ID:UBE2T_HUMAN; ENSEMBL ID: ENSG00000077152; HGNC ID: 25009
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBE2T|29089|nucleotide
ATGCAGAGAGCTTCACGTCTGAAGAGAGAGCTGCACATGTTAGCCACAGAGCCACCCCCAGGCATCACATGTTGGCAAGATAAAGACCAAATGGATGACCTGCGA
GCTCAAATATTAGGTGGAGCCAACACACCTTATGAGAAAGGTGTTTTTAAGCTAGAAGTTATCATTCCTGAGAGGTACCCATTTGAACCTCCTCAGATCCGATTT
CTCACTCCAATTTATCATCCAAACATTGATTCTGCTGGAAGGATTTGTCTGGATGTTCTCAAATTGCCACCAAAAGGTGCTTGGAGACCATCCCTCAACATCGCA
ACTGTGTTGACCTCTATTCAGCTGCTCATGTCAGAACCCAACCCTGATGACCCGCTCATGGCTGACATATCCTCAGAATTTAAATATAATAAGCCAGCCTTCCTC
AAGAATGCCAGACAGTGGACAGAGAAGCATGCAAGACAGAAACAAAAGGCTGATGAGGAAGAGATGCTTGATAATCTACCAGAGGCTGGTGACTCCAGAGTACAC
AACTCAACACAGAAAAGGAAGGCCAGTCAGCTAGTAGGCATAGAAAAGAAATTTCATCCTGATGTTTAG





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>UBE2T|29089|protein
MQRASRLKRELHMLATEPPPGITCWQDKDQMDDLRAQILGGANTPYEKGVFKLEVIIPERYPFEPPQIRFLTPIYHPNIDSAGRICLDVLKLPPKGAWRPSLNIA
TVLTSIQLLMSEPNPDDPLMADISSEFKYNKPAFLKNARQWTEKHARQKQKADEEEMLDNLPEAGDSRVHNSTQKRKASQLVGIEKKFHPDV



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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 (0) 0 (0) 0 (1) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top