AutismKB 2.0

Evidence Details for TRIP4


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Basic Information Top
Gene Symbol:TRIP4 ( ASC-1,HsT17391 )
Gene Full Name: thyroid hormone receptor interactor 4
Band: 15q22.31
Quick LinksEntrez ID:9325; OMIM: 604501; Uniprot ID:TRIP4_HUMAN; ENSEMBL ID: ENSG00000103671; HGNC ID: 12310
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRIP4|9325|nucleotide
ATGGCGGTGGCTGGGGCGGTGTCCGGGGAGCCGCTGGTGCACTGGTGCACCCAGCAGTTGCGGAAGACTTTCGGCCTGGATGTCAGCGAGGAGATCATTCAGTAC
GTTTTGTCAATTGAGAGTGCTGAAGAGATACGAGAATATGTTACTGATCTCCTCCAGGGAAATGAAGGCAAAAAAGGTCAATTCATAGAAGAACTTATAACCAAA
TGGCAAAAGAATGATCAGGAGTTGATTTCGGATCCTTTGCAGCAGTGCTTCAAAAAAGATGAAATTTTAGATGGGCAGAAATCAGGCGACCATCTAAAGCGGGGT
AGGAAGAAAGGGAGAAACAGACAGGAAGTTCCTGCATTTACTGAACCTGACACGACTGCAGAGGTTAAAACACCTTTTGATTTGGCCAAGGCACAAGAGAACAGC
AACTCCGTAAAGAAGAAGACAAAGTTTGTCAATTTATACACAAGAGAGGGACAGGACAGGCTTGCAGTCCTGCTCCCTGGTCGTCACCCTTGTGATTGCCTGGGC
CAGAAGCACAAGCTCATCAATAACTGTCTGATCTGTGGGCGCATTGTCTGTGAACAAGAAGGCTCAGGCCCTTGCTTATTCTGTGGCACTCTGGTGTGTACTCAT
GAGGAACAAGATATTTTACAGCGTGACTCAAACAAGAGCCAGAAACTGCTAAAGAAACTCATGTCAGGAGTGGAGAATTCTGGAAAGGTGGACATCTCTACCAAG
GACCTTCTTCCTCATCAAGAATTGCGAATTAAGTCTGGTCTGGAGAAGGCTATCAAGCATAAAGACAAACTGTTAGAGTTTGACAGAACTAGTATTCGAAGGACC
CAAGTCATTGATGATGAGTCAGATTACTTTGCCAGTGATTCTAACCAATGGTTGTCCAAACTTGAGCGGGAAACCTTGCAGAAGCGAGAGGAGGAGCTGAGAGAA
CTTCGACACGCCTCTCGACTTTCTAAGAAGGTCACCATTGACTTTGCAGGAAGGAAGATCCTGGAAGAAGAAAATTCACTAGCAGAGTATCATAGCAGACTAGAT
GAGACAATACAGGCCATTGCCAATGGAACCTTGAACCAGCCACTGACCAAATTGGATAGATCTTCTGAAGAGCCTTTGGGAGTTCTGGTAAATCCCAACATGTAC
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>TRIP4|9325|protein
MAVAGAVSGEPLVHWCTQQLRKTFGLDVSEEIIQYVLSIESAEEIREYVTDLLQGNEGKKGQFIEELITKWQKNDQELISDPLQQCFKKDEILDGQKSGDHLKRG
RKKGRNRQEVPAFTEPDTTAEVKTPFDLAKAQENSNSVKKKTKFVNLYTREGQDRLAVLLPGRHPCDCLGQKHKLINNCLICGRIVCEQEGSGPCLFCGTLVCTH
EEQDILQRDSNKSQKLLKKLMSGVENSGKVDISTKDLLPHQELRIKSGLEKAIKHKDKLLEFDRTSIRRTQVIDDESDYFASDSNQWLSKLERETLQKREEELRE
LRHASRLSKKVTIDFAGRKILEEENSLAEYHSRLDETIQAIANGTLNQPLTKLDRSSEEPLGVLVNPNMYQSPPQWVDHTGAASQKKAFRSSGFGLEFNSFQHQL
RIQDQEFQEGFDGGWCLSVHQPWASLLVRGIKRVEGRSWYTPHRGRLWIAATAKKPSPQEVSELQATYRLLRGKDVEFPNDYPSGCLLGCVDLIDCLSQKQFKEQ
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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) 1 (3) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (5)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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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