AutismKB 2.0

Evidence Details for C16orf68


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Basic Information Top
Gene Symbol:C16orf68 ( FLJ12433,MGC2654 )
Gene Full Name: chromosome 16 open reading frame 68
Band: 16p13.2
Quick LinksEntrez ID:79091; OMIM: NA; Uniprot ID:CP068_HUMAN; ENSEMBL ID: ENSG00000067365; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C16orf68|79091|nucleotide
ATGGTACAGCTGGCTCCTGCGGCAGCCATGGACGAGGTCACCTTTAGGAGCGACACTGTGCTGTCAGATGTCCACCTCTATACCCCGAACCATAGACATCTCATG
GTACGGCTGAACAGCGTGGGGCAGCCAGTTTTCCTGTCCCAATTCAAGCTTCTATGGAGCCAAGACTCTTGGACAGATTCAGGAGCCAAGGGTGGCAGTCACAGA
GATGTTCACACAAAGGAGCCTCCTTCTGCTGAGACAGGCAGCACAGGGTCCCCTCCAGGAAGTGGCCATGGTAATGAGGGTTTCTCCCTCCAGGCCGGGACTGAC
ACCACTGGCCAGGAAGTGGCTGAAGCTCAGCTGGATGAGGATGGGGATTTGGACGTGGTGAGAAGACCACGAGCCGCCTCTGATTCCAACCCAGCAGGGCCTCTG
AGAGACAAGGTACATCCCATGATTCTAGCACAGGAAGAAGACGACGTCCTGGGAGAGGAAGCACAAGGCAGCCCGCACGATATCATCAGAATAGAGCACACCATG
GCCACGCCCCTGGAGGATGTTGGCAAGCAGGTGTGGCGGGGCGCCCTGCTCCTGGCAGACTACATCCTGTTCCGACAGGACCTCTTCCGAGGATGTACAGCGCTG
GAGCTCGGGGCCGGCACGGGGCTCGCTAGCATCATCGCAGCCACCATGGCACGGACCGTTTATTGTACAGATGTCGGTGCAGATCTCTTGTCCATGTGCCAGCGA
AACATTGCCCTCAACAGCCACCTGGCTGCCACTGGAGGTGGTATAGTTAGGGTCAAAGAACTGGACTGGCTGAAGGACGACCTCTGCACAGATCCCAAGGTCCCC
TTCAGTTGGTCACAAGAGGAAATTTCTGACTTGTACGATCACACCACCATCCTGTTTGCAGCCGAAGTGTTTTACGACGACGACTTGACTGATGCTGTGTTTAAA
ACGCTCTCCCGACTCGCCCACAGATTGAAAAATGCCTGCACAGCCATACTGTCGGTGGAGAAGAGGCTCAACTTCACATTGAGACACTTGGACGTCACATGTGAA
GCCTACGATCACTTCCGCTCCTGCCTGCACGCGCTGGAGCAGCTCGCAGATGGCAAGCTGCGCTTCGTGGTGGAGCCCGTGGAGGCCTCCTTCCCACAGCTCCTG
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>C16orf68|79091|protein
MVQLAPAAAMDEVTFRSDTVLSDVHLYTPNHRHLMVRLNSVGQPVFLSQFKLLWSQDSWTDSGAKGGSHRDVHTKEPPSAETGSTGSPPGSGHGNEGFSLQAGTD
TTGQEVAEAQLDEDGDLDVVRRPRAASDSNPAGPLRDKVHPMILAQEEDDVLGEEAQGSPHDIIRIEHTMATPLEDVGKQVWRGALLLADYILFRQDLFRGCTAL
ELGAGTGLASIIAATMARTVYCTDVGADLLSMCQRNIALNSHLAATGGGIVRVKELDWLKDDLCTDPKVPFSWSQEEISDLYDHTTILFAAEVFYDDDLTDAVFK
TLSRLAHRLKNACTAILSVEKRLNFTLRHLDVTCEAYDHFRSCLHALEQLADGKLRFVVEPVEASFPQLLVYERLQQLELWKIIAEPVT

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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 2 (2) 0 (2) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 12 (8)
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
Wang, 2009_1 Discovery Illumina HumanHap550 BeadChip 780 1299
(-)
ASD -
-
-
-
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Wang, 2009_2 Discovery Illumina HumanHap550 BeadChip 1204
(-)
ASD 10.3±6.6
-
10.9±6.7 6491
(-)
8.8±5.4
-
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Bailey, 1998 - microsatellite-based genomic screenPDD 99 - 99 - - - -
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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