AutismKB 2.0

Evidence Details for TRIP11


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Basic Information Top
Gene Symbol:TRIP11 ( ACG1A,CEV14,GMAP-210,TRIP230 )
Gene Full Name: thyroid hormone receptor interactor 11
Band: 14q32.12
Quick LinksEntrez ID:9321; OMIM: 604505; Uniprot ID:TRIPB_HUMAN; ENSEMBL ID: ENSG00000100815; HGNC ID: 12305
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRIP11|9321|nucleotide
ATGTCGTCCTGGCTTGGGGGCCTCGGCTCCGGATTGGGCCAGTCTCTGGGTCAAGTCGGGGGCAGCCTGGCTTCCCTCACTGGCCAGATATCAAACTTTACAAAG
GATATGCTGATGGAGGGCACGGAGGAAGTGGAAGCAGAATTACCTGATTCTAGGACAAAGGAAATTGAAGCCATTCATGCAATCTTGAGATCAGAGAATGAAAGG
CTTAAGAAACTTTGTACTGATCTAGAAGAGAAACATGAAGCATCAGAGATTCAAATAAAGCAGCAATCTACAAGTTACCGAAATCAACTTCAACAAAAAGAGGTA
GAAATCAGCCATCTTAAAGCCAGACAGATTGCACTCCAGGATCAGTTGCTGAAACTGCAGTCAGCTGCTCAGTCAGTACCTTCAGGAGCTGGTGTACCAGCAACC
ACTGCATCATCTTCATTCGCTTATGGGATTAGTCATCATCCTTCAGCTTTCCATGACGATGACATGGACTTTGGTGATATAATTTCATCCCAACAAGAAATAAAC
CGACTCTCAAATGAAGTTTCAAGACTTGAGTCTGAAGTTGGCCATTGGAGGCATATTGCTCAGACTTCCAAAGCACAAGGAACAGATAACTCTGATCAAAGTGAA
ATATGTAAACTACAAAATATCATTAAGGAACTAAAACAGAACCGAAGTCAGGAAATTGATGACCATCAACATGAAATGTCAGTACTGCAGAATGCACACCAACAG
AAATTGACAGAAATAAGTCGACGACATCGAGAAGAATTAAGTGACTATGAAGAACGAATTGAAGAACTTGAAAATCTGTTACAACAAGGTGGCTCTGGAGTTATA
GAAACTGATCTCTCTAAAATCTATGAGATGCAAAAAACTATTCAAGTTCTACAAATAGAAAAAGTGGAGTCTACCAAAAAAATGGAACAACTTGAGGATAAAATA
AAAGATATAAATAAAAAATTATCTTCTGCAGAAAATGACAGAGATATTTTGAGGAGAGAACAAGAACAGCTAAATGTGGAAAAGAGACAAATAATGGAAGAATGT
GAAAACTTGAAATTGGAATGTAGTAAATTGCAGCCTTCTGCTGTGAAGCAAAGTGATACTATGACAGAAAAGGAAAGAATTCTTGCCCAGAGTGCATCAGTGGAA
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>TRIP11|9321|protein
MSSWLGGLGSGLGQSLGQVGGSLASLTGQISNFTKDMLMEGTEEVEAELPDSRTKEIEAIHAILRSENERLKKLCTDLEEKHEASEIQIKQQSTSYRNQLQQKEV
EISHLKARQIALQDQLLKLQSAAQSVPSGAGVPATTASSSFAYGISHHPSAFHDDDMDFGDIISSQQEINRLSNEVSRLESEVGHWRHIAQTSKAQGTDNSDQSE
ICKLQNIIKELKQNRSQEIDDHQHEMSVLQNAHQQKLTEISRRHREELSDYEERIEELENLLQQGGSGVIETDLSKIYEMQKTIQVLQIEKVESTKKMEQLEDKI
KDINKKLSSAENDRDILRREQEQLNVEKRQIMEECENLKLECSKLQPSAVKQSDTMTEKERILAQSASVEEVFRLQQALSDAENEIMRLSSLNQDNSLAEDNLKL
KMRIEVLEKEKSLLSQEKEELQMSLLKLNNEYEVIKSTATRDISLDSELHDLRLNLEAKEQELNQSISEKETLIAEIEELDRQNQEATKHMILIKDQLSKQQNEG
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
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

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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