AutismKB 2.0

Evidence Details for C17orf66


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C17orf66 ( FLJ32830 )
Gene Full Name: chromosome 17 open reading frame 66
Band: 17q12
Quick LinksEntrez ID:256957; OMIM: NA; Uniprot ID:CQ066_HUMAN; ENSEMBL ID: ENSG00000172653; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C17orf66|256957|nucleotide
ATGGCCTATGAAAAATCAACTGATATCTCTGATGTCTCCAGGTCAATGTTCCTGTACCCATGGCTGGAATATCCAGACAAGACCAAAGAACTCAGAAAAGCCATG
GCTCCTGTTCATCTGCCCTTGTCCTGCTACCAGATGCCAAAGGAAGAGTTTCCCCCAAGTCCAGAGTGCTGGAGGCAGCATCCGAGCAAGCCAAACTCAGTCCCG
TACTGCTACTTCAAGAAACCTGAGATCTACACGCACTGGCACGACCTGTATGATCAGCGAGAGGAAAGGGAGGCTGAGAAGATGTTGAGGAAAATGAGAGATGAC
TGTAGGTACATCAAAGAGGTACATCAAACCCACATCAAAATGTTCCATCTCCCAATGAGCAAGCTGACTATAAAATCTGAGATGCGATCCAGGCCCTTAGAGCCT
ACCCAGGACCCCCTGAAGTGGCAAAGATTAAGGGAACTCACAAAAAGCCTGGAATCTCCCAGAGAGGATGAGCAGTTCTATGCAGCACAGGCTCTGGGATGCTTA
CGCATCAGTGACAAGTTTGTCATGGAGGCACTACAGCAGGTGGCCCAAACTGGTCCAGAGAAAGTGAAGTACGAGGCCTACCGAACCCTGGCCATCCTGGGTTGC
CTGAATAAGCATGTGATCCGGGCTCTCATCAAACAGCTGAAGGAGAAAAATGAGGGTCAAAGGATGGAGACTTTGACGGGGCTACGAATGGCTCTTAACTCCTGG
GCTGCTGTCTCTAAAGACAAGAGGACTCAAGTCGGGGATGAGGGCAAGCTGGTGCCTGTACTACAGACACTGATCAAGAAGTCGTCCAGTGAAGCATCTCTGGAG
GCAGCCCTGTGCCTGGGTTTCCTGAGGCCTTGCAGCAACATGGTCCAAGAGTTCTTGTTGCAGTGCCTGTGCCAAGGACTCAAGACCCAGCGGATGAAGGCACTT
AGGATGCTGGTCAAGGTGATGCACGTGCACTCAGCCCCAGTCATCAAGGCCATCCTAGACCAGCTGTGTTCTTCCAGTGTCCTTGAGGACCGCTTTGAAGCCACC
CAAATGCTCAAGACCATTGGGCTGGAACAGATCCAGGCACAGGGGCTAGAGGAACTCACATTTAACCTGCTCAGGAGGAAGACGCATAATGAACCCTTCCTTGCT
Show »

>C17orf66|256957|protein
MAYEKSTDISDVSRSMFLYPWLEYPDKTKELRKAMAPVHLPLSCYQMPKEEFPPSPECWRQHPSKPNSVPYCYFKKPEIYTHWHDLYDQREEREAEKMLRKMRDD
CRYIKEVHQTHIKMFHLPMSKLTIKSEMRSRPLEPTQDPLKWQRLRELTKSLESPREDEQFYAAQALGCLRISDKFVMEALQQVAQTGPEKVKYEAYRTLAILGC
LNKHVIRALIKQLKEKNEGQRMETLTGLRMALNSWAAVSKDKRTQVGDEGKLVPVLQTLIKKSSSEASLEAALCLGFLRPCSNMVQEFLLQCLCQGLKTQRMKAL
RMLVKVMHVHSAPVIKAILDQLCSSSVLEDRFEATQMLKTIGLEQIQAQGLEELTFNLLRRKTHNEPFLAVRQAVAQTVEELKLKPTMMNLVEAQLMNPDATARQ
EAVISLGVLGIRSPQVFHLLLDLLDAENHQAVKKSLQETLILCASIDPWIQNKLKNKVLSVYEAPKTNVKAEPTRFQKEPENPEELTIQDFRLAKLNPLFIAKSI
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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