AutismKB 2.0

Evidence Details for TTC17


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TTC17 ( DKFZp686D20222,FLJ10890,FLJ13099,FLJ23673 )
Gene Full Name: tetratricopeptide repeat domain 17
Band: 11p12-p11.2
Quick LinksEntrez ID:55761; OMIM: NA; Uniprot ID:TTC17_HUMAN; ENSEMBL ID: ENSG00000052841; HGNC ID: 25596
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TTC17|55761|nucleotide
ATGGCGGCGGCAGTAGGGGTTCGTGGCCGGTACGAGCTGCCGCCTTGCTCCGGCCCAGGCTGGCTCCTCAGCCTTTCCGCCTTGCTGAGTGTGGCGGCACGAGGG
GCCTTCGCCACCACGCACTGGGTCGTCACGGAGGACGGGAAAATCCAGCAGCAGGTGGATTCACCAATGAACTTGAAGCATCCTCATGACCTAGTCATATTAATG
AGACAAGAAGCAACAGTTAACTACCTCAAAGAATTAGAGAAACAATTAGTTGCTCAAAAAATTCACATAGAAGAGAATGAGGACAGAGACACAGGACTGGAACAG
AGACATAATAAAGAAGACCCAGACTGCATCAAAGCCAAGGTGCCCTTAGGGGACCTGGATCTATATGATGGCACATACATAACTTTGGAGAGCAAAGACATCAGT
CCTGAAGATTATATAGACACAGAATCTCCTGTCCCTCCAGACCCAGAGCAACCTGATTGTACTAAAATTCTAGAACTTCCATATAGTATACATGCTTTTCAGCAC
TTGAGAGGTGTACAGGAGAGAGTTAATCTTTCTGCACCTCTGCTACCTAAAGAAGACCCAATCTTCACATATTTATCTAAACGGTTAGGAAGGAGTATAGATGAC
ATAGGTCACCTCATTCATGAAGGCCTACAGAAGAACACTTCCTCGTGGGTACTGTATAACATGGCTTCATTTTACTGGAGAATTAAGAATGAGCCATATCAGGTA
GTAGAATGTGCCATGCGAGCACTTCACTTCTCTTCCAGGCACAATAAAGACATTGCCCTGGTCAACCTGGCAAACGTTCTACACAGAGCACACTTCTCTGCTGAT
GCTGCTGTCGTGGTCCATGCAGCTCTGGATGACAGTGACTTCTTCACCAGCTATTACACTTTGGGGAATATATATGCAATGCTTGGGGAATATAACCACTCAGTG
CTCTGTTATGACCACGCTTTGCAGGCCAGACCTGGGTTTGAGCAAGCTATAAAGAGGAAGCATGCTGTCCTATGTCAGCAAAAACTGGAGCAGAAATTGGAGGCT
CAGCATAGATCTCTCCAGCGAACACTGAATGAGTTAAAAGAGTATCAAAAGCAGCATGACCACTACCTGAGACAGCAGGAAATCCTAGAAAAACATAAACTGATT
Show »

>TTC17|55761|protein
MAAAVGVRGRYELPPCSGPGWLLSLSALLSVAARGAFATTHWVVTEDGKIQQQVDSPMNLKHPHDLVILMRQEATVNYLKELEKQLVAQKIHIEENEDRDTGLEQ
RHNKEDPDCIKAKVPLGDLDLYDGTYITLESKDISPEDYIDTESPVPPDPEQPDCTKILELPYSIHAFQHLRGVQERVNLSAPLLPKEDPIFTYLSKRLGRSIDD
IGHLIHEGLQKNTSSWVLYNMASFYWRIKNEPYQVVECAMRALHFSSRHNKDIALVNLANVLHRAHFSADAAVVVHAALDDSDFFTSYYTLGNIYAMLGEYNHSV
LCYDHALQARPGFEQAIKRKHAVLCQQKLEQKLEAQHRSLQRTLNELKEYQKQHDHYLRQQEILEKHKLIQEEQILRNIIHETQMAKEAQLGNHQICRLVNQQHS
LHCQWDQPVRYHRGDIFENVDYVQFGEDSSTSSMMSVNFDVQSNQSDINDSVKSSPVAHSILWIWGRDSDAYRDKQHILWPKRADCTESYPRVPVGGELPTYFLP
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 (0) 1 (2) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.998973 Down 68.8854
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1660810
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
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