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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018