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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top