AutismKB 2.0

Evidence Details for CHTF18


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Basic Information Top
Gene Symbol:CHTF18 ( C16orf41,C321D2.2,C321D2.3,C321D2.4,CHL12,Ctf18,RUVBL )
Gene Full Name: CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)
Band: 16p13.3
Quick LinksEntrez ID:63922; OMIM: 613201; Uniprot ID:CTF18_HUMAN; ENSEMBL ID: ENSG00000127586; HGNC ID: 18435
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHTF18|63922|nucleotide
ATGGAGGACTACGAGCAGGAGCTGTGCGGCGTCGAGGATGATTTCCACAACCAGTTCGCGGCCGAGCTGGAGGTGCTGGCAGAGCTGGAAGGGGCGTCGACTCCG
TCGCCCTCCGGGGTCCCCCTGTTCACCGCGGGCCGACCCCCGCGGACGTTCGAGGAGGCCCTTGCCAGAGGGGACGCGGCCTCCAGTCCCGCCCCAGCCGCATCT
GTGGGCAGCAGCCAGGGCGGCGCCAGGAAGAGGCAGGTGGACGCCGACCTGCAGCCGGCCGGGTCCCTGCCCCACGCCCCCAGGATCAAACGGCCTAGGCTGCAG
GTGGTCAAGAGGCTGAACTTCAGGTCGGAGGAGATGGAGGAGCCGCCCCCTCCCGACTCCTCGCCGACGGACATCACCCCGCCGCCGAGCCCTGAGGACCTCGCA
GAGCTTTGGGGCCACGGAGTCTCAGAAGCTGCTGCCGACGTGGGTCTCACACGGGCCTCACCAGCTGCCCGCAATCCCGTCCTGAGGCGGCCCCCCATCTTGGAG
GACTACGTCCACGTGACATCCACGGAGGGCGTCCGGGCTTATCTGGTGCTGCGTGCTGACCCCATGGCCCCGGGGGTGCAGGGCTCTCTCCTCCACGTCCCATGG
CGAGGCGGTGGCCAGCTGGACCTGCTGGGTGTGTCCTTAGCCTCCCTGAAGAAGCAGGTCGACGGCGAGCGGCGGGAGCGGCTGCTTCAGGAGGCCCAGAAGCTT
TCAGACACCCTGCACAGTCTCAGGTCGGGGGAGGAGGAGGCAGCCCAGCCCTTGGGGGCCCCTGAGGAGGAGCCGACTGACGGTCAAGACGCCTCCAGTCACTGC
CTCTGGGTGGATGAGTTTGCACCCCGCCACTACACGGAGCTGCTCAGTGATGACTTCACCAACCGCTGCCTGCTCAAGTGGCTGAAGTTGTGGGACCTGGTGGTG
TTTGGCCACGAGAGGCCTTCCCGGAAGCCCAGGCCCAGTGTTGAGCCGGCCCGGGTCAGCAAGGAGGCCACAGCCCCAGGCAAGTGGAAGAGCCACGAACAGGTG
CTGGAGGAGATGCTGGAGGCTGGGCTGGACCCGAGCCAGCGACCGAAGCAGAAGGTGGCACTGCTCTGTGGGCCCCCGGGGCTGGGGAAGACCACCCTGGCACAC
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>CHTF18|63922|protein
MEDYEQELCGVEDDFHNQFAAELEVLAELEGASTPSPSGVPLFTAGRPPRTFEEALARGDAASSPAPAASVGSSQGGARKRQVDADLQPAGSLPHAPRIKRPRLQ
VVKRLNFRSEEMEEPPPPDSSPTDITPPPSPEDLAELWGHGVSEAAADVGLTRASPAARNPVLRRPPILEDYVHVTSTEGVRAYLVLRADPMAPGVQGSLLHVPW
RGGGQLDLLGVSLASLKKQVDGERRERLLQEAQKLSDTLHSLRSGEEEAAQPLGAPEEEPTDGQDASSHCLWVDEFAPRHYTELLSDDFTNRCLLKWLKLWDLVV
FGHERPSRKPRPSVEPARVSKEATAPGKWKSHEQVLEEMLEAGLDPSQRPKQKVALLCGPPGLGKTTLAHVIARHAGYSVVEMNASDDRSPEVFRTRIEAATQME
SVLGAGGKPNCLVIDEIDGAPVAAINVLLSILNRKGPQEVGPQGPAVPSGGGRRRRAEGGLLMRPIICICNDQFAPSLRQLKQQAFLLHFPPTLPSRLVQRLQEV
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (7)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Linkage Studies Top