AutismKB 2.0

Evidence Details for UEVLD


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Basic Information Top
Gene Symbol:UEVLD ( ATTP,FLJ11068,UEV3 )
Gene Full Name: UEV and lactate/malate dehyrogenase domains
Band: 11p15.1
Quick LinksEntrez ID:55293; OMIM: 610985; Uniprot ID:UEVLD_HUMAN; ENSEMBL ID: ENSG00000151116; HGNC ID: 30866
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UEVLD|55293|nucleotide
ATGGAGTTCGACTGCGAGGGCCTGAGACGGCTGCTTGGCAAGTACAAGTTCAGGGACCTAACTGTGGAAGAACTAAGGAATGTAAATGTATTTTTCCCACATTTC
AAATATTCCATGGACACCTATGTTTTTAAAGATAGTTCTCAGAAAGACCTGCTGAATTTTACTGGCACAATTCCTGTGATGTATCAGGGTAATACATATAACATA
CCAATTCGTTTCTGGATTTTGGATTCTCACCCTTTCGCTCCCCCTATTTGCTTCTTGAAGCCAACTGCAAATATGGGAATCTTAGTCGGAAAACATGTGGATGCT
CAAGGCAGAATATATTTGCCCTATCTCCAAAACTGGAGCCATCCTAAATCTGTCATTGTTGGATTAATTAAAGAAATGATTGCCAAGTTTCAAGAGGAACTTCCC
ATGTATTCTCTATCATCATCTGATGAGGCACGGCAGGTAGACTTGCTAGCCTATATTGCAAAAATCACTGAAGGTGTTTCAGATACAAATTCAAAGAGCTGGGCA
AATCATGAGAATAAAACAGTCAATAAAATTACTGTGGTTGGAGGTGGAGAACTCGGTATTGCCTGCACATTAGCAATTTCAGCAAAGGGTATTGCAGACAGGCTT
GTCCTCTTAGACCTCTCAGAAGGGACTAAAGGAGCCACGATGGACCTTGAAATCTTCAACCTTCCTAATGTGGAGATCAGCAAAGATTTGTCTGCCTCTGCTCAT
TCCAAGGTGGTGATCTTCACAGTCAACTCTTTGGGTAGTTCTCAGTCGTACCTTGATGTGGTACAGAGCAATGTGGATATGTTCAGAGCCCTTGTCCCAGCTCTG
GGACATTATAGTCAACACAGTGTCCTGCTCGTTGCATCTCAACCAGTGGAAATCATGACCTATGTAACATGGAAACTGAGTACATTTCCTGCAAATCGAGTGATC
GGAATTGGATGTAATCTGGATTCACAGAGATTACAGTATATTATTACAAATGTTTTGAAGGCACAGACTTCAGGCAAAGAAGTATGGGTTATTGGCGAGCAAGGA
GAAGACAAAGTGCTCACATGGAGTGGCCAAGAAGAAGTAGTGAGTCATACCTCTCAAGTGCAGCTGTCCAACAGAGCCATGGAACTGCTAAGAGTAAAAGGTCAA
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>UEVLD|55293|protein
MEFDCEGLRRLLGKYKFRDLTVEELRNVNVFFPHFKYSMDTYVFKDSSQKDLLNFTGTIPVMYQGNTYNIPIRFWILDSHPFAPPICFLKPTANMGILVGKHVDA
QGRIYLPYLQNWSHPKSVIVGLIKEMIAKFQEELPMYSLSSSDEARQVDLLAYIAKITEGVSDTNSKSWANHENKTVNKITVVGGGELGIACTLAISAKGIADRL
VLLDLSEGTKGATMDLEIFNLPNVEISKDLSASAHSKVVIFTVNSLGSSQSYLDVVQSNVDMFRALVPALGHYSQHSVLLVASQPVEIMTYVTWKLSTFPANRVI
GIGCNLDSQRLQYIITNVLKAQTSGKEVWVIGEQGEDKVLTWSGQEEVVSHTSQVQLSNRAMELLRVKGQRSWSVGLSVADMVDSIVNNKKKVHSVSALAKGYYD
INSEVFLSLPCILGTNGVSEVIKTTLKEDTVTEKLQSSASSIHSLQQQLKL
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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
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top