AutismKB 2.0

Evidence Details for UBE3B


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Basic Information Top
Gene Symbol:UBE3B ( DKFZp586K2123,DKFZp686A1051,FLJ45294,MGC131858,MGC78388 )
Gene Full Name: ubiquitin protein ligase E3B
Band: 12q24.11
Quick LinksEntrez ID:89910; OMIM: 608047; Uniprot ID:UBE3B_HUMAN; ENSEMBL ID: ENSG00000151148; HGNC ID: 13478
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UBE3B|89910|nucleotide
ATGTTCACCCTGTCTCAGACCTCGAGAGCATGGTTCATCGATAGAGCCCGTCAGGCACGAGAAGAAAGGCTTGTGCAGAAGGAACGGGAGCGGGCAGCTGTTGTG
ATCCAGGCCCATGTCCGGAGTTTTCTCTGTCGGAGTCGACTGCAGAGAGATATCAGGAGAGAGATTGATGACTTTTTTAAAGCAGATGACCCTGAGTCCACTAAA
AGAAGTGCACTTTGTATTTTCAAGATTGCCAGGAAACTGCTGTTCCTATTCAGAATCAAAGAGGATAATGAGAGATTTGAGAAGTTGTGTCGCAGCATCCTGAGC
AGCATGGATGCTGAGAATGAGCCTAAGGTGTGGTATGTGTCCCTGGCTTGTTCTAAGGACCTCACCCTCCTTTGGATTCAACAGATCAAGAACATTTTGTGGTAC
TGCTGTGATTTTCTCAAGCAGCTCAAGCCTGAAATCCTGCAGGACTCCCGACTCATCACCCTGTACCTCACGATGCTTGTCACCTTCACAGACACTTCAACGTGG
AAAATTCTTCGGGGAAAAGGTGAAAGTCTTCGACCAGCGATGAACCACATTTGTGCAAATATAATGGGACATCTCAACCAGCATGGATTTTATTCTGTGCTGCAG
ATATTGTTAACCCGTGGCCTGGCAAGACCCCGTCCTTGTCTATCCAAAGGCACTTTAACAGCAGCTTTTTCTCTAGCGTTACGCCCTGTGATTGCTGCACAGTTC
TCAGACAATCTGATTCGGCCGTTCCTCATCCACATCATGTCTGTGCCTGCTCTGGTGACTCATCTCAGCACAGTGACCCCTGAGCGCCTCACTGTTTTAGAATCC
CATGACATGCTTCGTAAATTCATCATATTTTTAAGAGACCAAGATCGATGCCGTGATGTATGTGAAAGTTTAGAAGGATGCCATACGCTTTGTCTAATGGGCAAC
CTCCTACACTTGGGCTCCCTCAGCCCCAGAGTGTTAGAGGAGGAGACAGATGGGTTCGTGAGTTTGCTCACCCAGACGCTGTGCTACTGTCGGAAGTATGTGTCT
CAGAAGAAGTCCAACCTGACCCACTGGCATCCTGTCCTTGGCTGGTTCTCCCAATCTGTGGATTATGGCCTTAACGAGTCAATGCACTTGATCACCAAACAGCTG
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>UBE3B|89910|protein
MFTLSQTSRAWFIDRARQAREERLVQKERERAAVVIQAHVRSFLCRSRLQRDIRREIDDFFKADDPESTKRSALCIFKIARKLLFLFRIKEDNERFEKLCRSILS
SMDAENEPKVWYVSLACSKDLTLLWIQQIKNILWYCCDFLKQLKPEILQDSRLITLYLTMLVTFTDTSTWKILRGKGESLRPAMNHICANIMGHLNQHGFYSVLQ
ILLTRGLARPRPCLSKGTLTAAFSLALRPVIAAQFSDNLIRPFLIHIMSVPALVTHLSTVTPERLTVLESHDMLRKFIIFLRDQDRCRDVCESLEGCHTLCLMGN
LLHLGSLSPRVLEEETDGFVSLLTQTLCYCRKYVSQKKSNLTHWHPVLGWFSQSVDYGLNESMHLITKQLQFLWGVPLIRIFFCDILSKKLLESQEPAHAQPASP
QNVLPVKSLLKRAFQKSASVRNILRPVGGKRVDSAEVQKVCNICVLYQTSLTTLTQIRLQILTGLTYLDDLLPKLWAFICELGPHGGLKLFLECLNNDTEESKQL
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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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top