AutismKB 2.0

Evidence Details for TTC14


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Basic Information Top
Gene Symbol:TTC14 ( DKFZp313M1015,DRDL5813,FLJ00166,KIAA1980,PRO19630 )
Gene Full Name: tetratricopeptide repeat domain 14
Band: 3q26.33
Quick LinksEntrez ID:151613; OMIM: NA; Uniprot ID:TTC14_HUMAN; ENSEMBL ID: ENSG00000163728; HGNC ID: 24697
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TTC14|151613|nucleotide
ATGGACCGGGACCTTTTGCGGCAGTCGCTAAATTGCCACGGGTCGTCTTTGCTCTCTCTACTTCGGAGCGAACAGCAGGACAATCCACACTTCCGTAGCCTCCTG
GGGTCGGCCGCCGAGCCAGCCCGGGGCCCGCCGCCCCAGCACCCGTTGCAGGGCAGAAAAGAGAAGAGAGTTGACAACATCGAGATACAGAAATTCATCTCCAAA
AAAGCGGATCTGCTTTTTGCACTTTCCTGGAAATCAGATGCACCTGCAACTTCTGAAATTAATGAAGACAGTGAAGATCATTATGCAATCATGCCACCTTTAGAG
CAATTCATGGAGATACCTAGTATGGATCGGAGAGAGCTGTTTTTCCGAGATATTGAGCGTGGTGATATAGTGATTGGAAGAATTAGTTCTATTCGGGAATTCGGT
TTTTTCATGGTGTTGATCTGTTTAGGAAGTGGTATCATGAGAGATATAGCCCACTTAGAAATCACAGCTCTTTGTCCCTTAAGAGATGTGCCTTCTCACAGTAAC
CATGGGGATCCTTTATCATATTACCAAACTGGTGACATCATTCGAGCTGGAATCAAGGATATTGACAGATACCATGAAAAGCTAGCAGTATCTCTGTATAGCTCT
TCTCTTCCACCACACCTATCTGGTATTAAATTAGGTGTAATTAGCTCTGAAGAGCTTCCTTTATACTACAGGAGAAGTGTTGAGCTAAATAGCAATTCTTTGGAG
TCCTATGAAAATGTCATGCAGAGTTCCTTGGGATTTGTTAATCCAGGAGTAGTTGAATTCCTTCTAGAAAAACTAGGAATAGATGAATCTAATCCACCATCTTTA
ATGAGAGGCCTACAAAGCAAAAATTTCTCTGAAGATGATTTTGCTTCTGCATTGAGAAAAAAACAATCCGCATCTTGGGCTTTAAAATGTGTGAAGATCGGAGTT
GACTATTTTAAAGTTGGACGCCATGTGGATGCTATGAATGAATACAATAAAGCTTTGGAAATAGACAAACAAAACGTGGAAGCTTTGGTAGCTCGTGGAGCATTA
TATGCGACAAAAGGAAGTTTGAACAAAGCAATAGAAGATTTTGAGCTTGCATTAGAAAACTGTCCAACTCACAGAAATGCAAGAAAATACCTCTGCCAGACACTT
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>TTC14|151613|protein
MDRDLLRQSLNCHGSSLLSLLRSEQQDNPHFRSLLGSAAEPARGPPPQHPLQGRKEKRVDNIEIQKFISKKADLLFALSWKSDAPATSEINEDSEDHYAIMPPLE
QFMEIPSMDRRELFFRDIERGDIVIGRISSIREFGFFMVLICLGSGIMRDIAHLEITALCPLRDVPSHSNHGDPLSYYQTGDIIRAGIKDIDRYHEKLAVSLYSS
SLPPHLSGIKLGVISSEELPLYYRRSVELNSNSLESYENVMQSSLGFVNPGVVEFLLEKLGIDESNPPSLMRGLQSKNFSEDDFASALRKKQSASWALKCVKIGV
DYFKVGRHVDAMNEYNKALEIDKQNVEALVARGALYATKGSLNKAIEDFELALENCPTHRNARKYLCQTLVERGGQLEEEEKFLNAESYYKKALALDETFKDAED
ALQKLHKYMQVIPYFLLEI
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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 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
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
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.

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  (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