AutismKB 2.0

Evidence Details for C6orf118


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Basic Information Top
Gene Symbol:C6orf118 ( MGC23884,bA85G2.1,dJ416F21.2 )
Gene Full Name: chromosome 6 open reading frame 118
Band: 6q27
Quick LinksEntrez ID:168090; OMIM: NA; Uniprot ID:CF118_HUMAN; ENSEMBL ID: ENSG00000112539; HGNC ID: 21233
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C6orf118|168090|nucleotide
ATGGCGGAGGAGCGGGAGCCTGAATTGTACCTGAAGTGGAAGCACTGCGAGACGCCAGGCGTGAAGACCCTGTGTAATCTGAAGCACTGCGAGACGCCAGGAGTG
AAGACCCTGTGTAATCTGAAGAAACTTCTGAATCGGCTTCAGAAAGACCACCGGGAGGACGTCTACCTCTACATCTCTGGACACCTGAACCCCAACAAGCTCTAC
CAGCCTCCGGAGACGATCTTACAGCACTGGCCCAATGCCCACCGGCCCAAGGGGGAGCGCGCCTCTGAGGTGGGAGAGCCGCCCGCAGGGAAGGTGGCGAGGATG
AAGGAGGCCCTGGCCCACTTCACCATCCACACGGCCCTGGTCCCCAGTGAGGCCCAGGACACCCCGCTGTTCAGGTACCTGAACCCCCAGGCCTCTCTTTCCCAC
ACTTCAGAGGAGGATTTCCTTCCAGTGGAGGCTGTCAGAGAGGGGAAGGAAGAAAAGAAAGGAGGCCCTCCTGGACGGGGCCCTCCTGGATGGCGCAGGAGGGAA
GAACTCCGGCTGCCCGACTTGAAGGTGCTGTGCTACCAGGAGGCCGGGTCCAGAGGCACCAGGGACCGGCACCACTATGTCAGCTCCTACCTGGCCGGAGCCACC
AGCGCAGACAGGTACAGGATGTTCCTGCGTTTCCAGAAGGAAGTGCTCGCCAAGCAAGATCTCCTGAAGAATGACTTCACTGGGAGCAAGGCGGCCGCGGGCCAC
GAGAGAAAGCTGCAGCAGGAGCTCCAGAAAATTTGCACGTGCAGCCCCCAGCAGTTCAACAGACTGCACGTCTTTGGAAAAGTCTTTGAAGATATTTGTAACAGT
TCTTTGATATTTGGTGATCTCTTGAAAAAAGTTAAGGATGAATATGAACTCTACATGGCAACGCTCCTGGAGTCCCAGCCTGCAGCACAGTACGAGGCTCTTCTG
GCTCAACTCAAGGCGCTGGGGCAGAGGCCGGTGAAGACGGCGGACATGGATCTCGCCAGGGAAGAGCTGAGGATGCTCGTGACAGCCACAAAAGCAGCCCTGGAG
CAGAATGATAGACTCAGAAGTGAACTGGAGATGGAGGTGGCATTGCTGCAGTCTGCAAAGGAACGATCAGAATCATCTGAGAAACATATAATTGATGAAAACCGA
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>C6orf118|168090|protein
MAEEREPELYLKWKHCETPGVKTLCNLKHCETPGVKTLCNLKKLLNRLQKDHREDVYLYISGHLNPNKLYQPPETILQHWPNAHRPKGERASEVGEPPAGKVARM
KEALAHFTIHTALVPSEAQDTPLFRYLNPQASLSHTSEEDFLPVEAVREGKEEKKGGPPGRGPPGWRRREELRLPDLKVLCYQEAGSRGTRDRHHYVSSYLAGAT
SADRYRMFLRFQKEVLAKQDLLKNDFTGSKAAAGHERKLQQELQKICTCSPQQFNRLHVFGKVFEDICNSSLIFGDLLKKVKDEYELYMATLLESQPAAQYEALL
AQLKALGQRPVKTADMDLAREELRMLVTATKAALEQNDRLRSELEMEVALLQSAKERSESSEKHIIDENRLTLTEKVEKKRCEILSKWDEIQALEKEIKTTLVHT
GISDITENRIKSIEHEAIQLETENMILKKKIKGPLEIYQGICKIRGNRR
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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 (1) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top