AutismKB 2.0

Evidence Details for C18orf19


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Basic Information Top
Gene Symbol:C18orf19 ( HsT2329,MGC24180 )
Gene Full Name: chromosome 18 open reading frame 19
Band: 18p11.21
Quick LinksEntrez ID:125228; OMIM: NA; Uniprot ID:CR019_HUMAN; ENSEMBL ID: ENSG00000177150; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C18orf19|125228|nucleotide
ATGCAATGGAATGTACCACGGACTGTATCTCGACTGGCACGCAGGACATGCTTGGAACCACATAATGCTGGTCTCTTTGGACACTGTCAAAATGTAAAGGGACCT
TTACTTTTATACAATGCTGAATCCAAAGTGGTTTTGGTACAAGGCCCTCAAAAACAATGGTTGCATTTATCTGCTGCCCAGTGTGTTGCAAAGGAAAGGAGGCCA
TTGGATGCTCATCCACCCCAACCAGGAGTCCTTCGCCATAAGCAAGGGAAGCAACATGTTTCATTCAGGAGGGTTTTTTCATCCAGTGCCACAGCTCAGGGAACT
CCGGAAAAAAAGGAAGAGCCTGATCCTTTGCAAGACAAATCTATTAGTCTTTATCAACGATTCAAGAAGACATTTAGACAGTATGGAAAAGTTCTGATTCCAGTG
CATCTAATAACTTCTGGTGTTTGGTTTGGAACATTTTATTATGCAGCCTTGAAAGGAGTGAATGTCGTTCCTTTTCTAGAACTCATTGGGTTACCTGACAGTGTG
GTAAGCATCCTGAAAAACTCCCAGAGTGGAAATGCCCTCACAGCATATGCCTTGTTTAAGATTGCAACACCTGCTCGGTATACCGTGACTTTGGGAGGAACATCT
GTCACTGTGAAGTATCTGCGCAGTCATGGCTACATGTCCACGCCGCCACCCGTCAAGGAGTATCTGCAGGACAGGATGGAAGAGACAAAGGAGCTTATCACAGAG
AAAATGGAAGAAACAAAAGATAGACTCACTGAAAAGTTACAAGAAACCAAAGAAAAAGTTTCCTTTAAGAAAAAAGTGGAATAA



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>C18orf19|125228|protein
MQWNVPRTVSRLARRTCLEPHNAGLFGHCQNVKGPLLLYNAESKVVLVQGPQKQWLHLSAAQCVAKERRPLDAHPPQPGVLRHKQGKQHVSFRRVFSSSATAQGT
PEKKEEPDPLQDKSISLYQRFKKTFRQYGKVLIPVHLITSGVWFGTFYYAALKGVNVVPFLELIGLPDSVVSILKNSQSGNALTAYALFKIATPARYTVTLGGTS
VTVKYLRSHGYMSTPPPVKEYLQDRMEETKELITEKMEETKDRLTEKLQETKEKVSFKKKVE


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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top