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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018