AutismKB 2.0

Evidence Details for UACA


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Basic Information Top
Gene Symbol:UACA ( FLJ10128,KIAA1561,MGC141967,MGC141969,NUCLING )
Gene Full Name: uveal autoantigen with coiled-coil domains and ankyrin repeats
Band: 15q23
Quick LinksEntrez ID:55075; OMIM: 612516; Uniprot ID:UACA_HUMAN; ENSEMBL ID: ENSG00000137831; HGNC ID: 15947
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UACA|55075|nucleotide
ATGATGAACTGTTGGTTTTCTTGTACTCCTAAGAACAGACATGCAGCAGATTGGAATAAATATGATGACCGATTGATGAAAGCAGCAGAAAGGGGGGATGTAGAA
AAAGTGACCTCAATCCTTGCTAAAAAGGGGGTCAATCCAGGCAAACTAGATGTGGAAGGCAGATCTGTCTTCCATGTTGTGACCTCAAAGGGGAATCTTGAGTGT
TTGAATGCCATCCTTATACATGGAGTTGATATTACAACCAGTGACACTGCAGGGAGAAATGCTCTTCACCTGGCTGCTAAGTATGGACATGCATTGTGCCTACAA
AAACTTCTACAGTACAATTGTCCCACTGAGCATGCAGACCTGCAGGGAAGAACTGCACTTCACGATGCCGCAATGGCAGATTGTCCTTCTAGCATACAGCTGCTT
TGTGACCATGGGGCCTCTGTGAATGCCAAAGATGTAGACGGGCGGACACCACTTGTTCTGGCTACTCAGATGAGTAGGCCAACAATATGTCAACTGCTGATAGAT
AGAGGAGCGGATGTTAATTCCAGAGACAAACAAAACAGAACTGCCCTCATGCTAGGTTGCGAATATGGTTGCAGAGATGCAGTAGAAGTCTTAATTAAAAATGGT
GCTGATATAAGCTTGCTGGATGCGCTTGGCCATGATAGTTCTTACTATGCAAGAATTGGTGACAATCTGGACATTCTAACCTTGTTGAAGACTGCATCGGAAAAT
ACCAACAAAGGGAGAGAACTTTGGAAGAAAGGGCCATCTTTGCAACAGCGAAATTTGACACACATGCAAGATGAAGTAAATGTGAAGTCACATCAGAGGGAGCAT
CAAAATATTCAGGATTTGGAGATTGAAAATGAAGATTTGAAAGAGAGGTTGAGAAAAATTCAGCAAGAACAAAGAATACTTTTGGATAAAGTCAATGGTTTACAG
TTACAGCTGAATGAGGAAGTTATGGTTGCTGATGATCTGGAAAGCGAGAGAGAAAAGCTGAAGTCCCTTTTGGCAGCTAAAGAAAAGCAACATGAAGAAAGCTTA
AGGACTATTGAGGCTCTGAAAAATAGATTTAAATATTTTGAGAGTGATCATTTAGGATCAGGAAGTCATTTCAGTAACCGAAAAGAAGATATGCTTCTTAAACAA
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>UACA|55075|protein
MMNCWFSCTPKNRHAADWNKYDDRLMKAAERGDVEKVTSILAKKGVNPGKLDVEGRSVFHVVTSKGNLECLNAILIHGVDITTSDTAGRNALHLAAKYGHALCLQ
KLLQYNCPTEHADLQGRTALHDAAMADCPSSIQLLCDHGASVNAKDVDGRTPLVLATQMSRPTICQLLIDRGADVNSRDKQNRTALMLGCEYGCRDAVEVLIKNG
ADISLLDALGHDSSYYARIGDNLDILTLLKTASENTNKGRELWKKGPSLQQRNLTHMQDEVNVKSHQREHQNIQDLEIENEDLKERLRKIQQEQRILLDKVNGLQ
LQLNEEVMVADDLESEREKLKSLLAAKEKQHEESLRTIEALKNRFKYFESDHLGSGSHFSNRKEDMLLKQGQMYMADSQCTSPGIPAHMQSRSMLRPLELSLPSQ
TSYSENEILKKELEAMRTFCESAKQDRLKLQNELAHKVAECKALALECERVKEDSDEQIKQLEDALKDVQKRMYESEGKVKQMQTHFLALKEHLTSEAASGNHRL
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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) 1 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (6)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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