AutismKB 2.0

Evidence Details for CTU2


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Basic Information Top
Gene Symbol:CTU2 ( C16orf84,MGC131681,MGC148063,MGC148064,NCS2,UPF0432 )
Gene Full Name: cytosolic thiouridylase subunit 2 homolog (S. pombe)
Band: 16q24.3
Quick LinksEntrez ID:348180; OMIM: NA; Uniprot ID:CTU2_HUMAN; ENSEMBL ID: ENSG00000174177; HGNC ID: 28005
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CTU2|348180|nucleotide
ATGTGTCAGGTGGGCGAGGACTACGGGGAGCCGGCGCCTGAGGAGCCGCCCCCGGCGCCGCGGCCCAGCCGTGAGCAGAAGTGTGTGAAGTGCAAGGAAGCGCAG
CCCGTTGTGGTGATACGAGCCGGAGATGCCTTCTGCAGGGACTGTTTCAAGGCCTTCTACGTCCACAAGTTCAGAGCCATGCTGGGCAAGAACCGGCTCATCTTT
CCAGGCGAGAAGGTGCTCTTGGCGTGGTCTGGGGGGCCTTCGTCCAGCTCCATGGTCTGGCAGGTTCTTGAGGGCCTGAGCCAAGATTCTGCCAAAAGACTGCGC
TTTGTGGCAGGAGTCATCTTTGTTGACGAGGGAGCAGCCTGTGGCCAGAGCCTAGAGGAGAGATCAAAGACCCTGGCCGAAGTGAAGCCCATTCTGCAAGCAACT
GGGTTCCCATGGCATGTGGTGGCCTTAGAGGAGGTGTTCAGCCTGCCACCGTCGGTGCTTTGGTGCTCTGCCCAGGAGCTGGTGGGATCCGAGGGGGCCTACAAG
GCGGCCGTGGACAGCTTCCTCCAGCAGCAGCATGTGCTGGGGGCCGGGGGTGGTCCTGGCCCGACTCAAGGGGAGGAACAGCCACCCCAGCCCCCGCTGGACCCC
CAGAACCTGGCAAGACCGCCTGCCCCTGCCCAGACTGAGGCTCTTTCCCAACTGTTCTGCTCAGTGAGGACACTGACTGCCAAGGAGGAGCTTCTGCAGACCCTG
CGGACCCACCTGATCCTCCACATGGCCCGAGCCCACGGCTACTCCAAGGTCATGACTGGGGACAGCTGCACACGCTTGGCTATCAAGCTCATGACCAACCTGGCG
CTGGGTCGAGGGGCCTTCCTGGCCTGGGATACGGGCTTCTCGGATGAGCGGCACGGGGACGTGGTGGTGGTGCGGCCCATGCGGGACCACACCCTGAAGGAGGTC
GCTTTCTACAACCGCCTGTTCTCCGTTCCTTCTGTCTTCACACCAGCCGTCGACACCAAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATC
CTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGACAAGTGAGAAGCTGGTGAAGGGCCCCCGGGATGGCCCTGCTGCTGGCGACTCCGGC
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>CTU2|348180|protein
MCQVGEDYGEPAPEEPPPAPRPSREQKCVKCKEAQPVVVIRAGDAFCRDCFKAFYVHKFRAMLGKNRLIFPGEKVLLAWSGGPSSSSMVWQVLEGLSQDSAKRLR
FVAGVIFVDEGAACGQSLEERSKTLAEVKPILQATGFPWHVVALEEVFSLPPSVLWCSAQELVGSEGAYKAAVDSFLQQQHVLGAGGGPGPTQGEEQPPQPPLDP
QNLARPPAPAQTEALSQLFCSVRTLTAKEELLQTLRTHLILHMARAHGYSKVMTGDSCTRLAIKLMTNLALGRGAFLAWDTGFSDERHGDVVVVRPMRDHTLKEV
AFYNRLFSVPSVFTPAVDTKAPEKASIHRLMEAFILRLQTQFPSTVSTVYRTSEKLVKGPRDGPAAGDSGPRCLLCMCALDVDAADSATAFGAQTSSRLSQMQSP
IPLTETRTPPGPCCSPGVGWAQRCGQGACRREDPQACIEEQLCYSCRVNMKDLPSLDPLPPYILAEAQLRTQRAWGLQEIRDCLIEDSDDEAGQS
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 3 (4)
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
Willemsen, 2010 - SNP microarrayASD 3 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top