AutismKB 2.0

Evidence Details for THBS4


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Basic Information Top
Gene Symbol:THBS4 ( TSP4 )
Gene Full Name: thrombospondin 4
Band: 5q14.1
Quick LinksEntrez ID:7060; OMIM: 600715; Uniprot ID:TSP4_HUMAN; ENSEMBL ID: ENSG00000113296; HGNC ID: 11788
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>THBS4|7060|nucleotide
ATGCTGGCCCCGCGCGGAGCCGCCGTCCTCCTGCTGCACCTGGTCCTGCAGCGGTGGCTAGCGGCAGGCGCCCAGGCCACCCCCCAGGTCTTTGACCTTCTCCCA
TCTTCCAGTCAGAGGCTAAACCCAGGCGCTCTGCTGCCAGTCCTGACAGACCCCGCCCTGAATGATCTCTATGTGATTTCCACCTTCAAGCTGCAGACTAAAAGT
TCAGCCACCATCTTCGGTCTTTACTCTTCAACTGACAACAGTAAATATTTTGAATTTACTGTGATGGGACGCTTAAACAAAGCCATCCTCCGTTACCTGAAGAAC
GATGGGAAGGTGCATTTGGTGGTTTTCAACAACCTGCAGCTGGCAGACGGAAGGCGGCACAGGATCCTCCTGAGGCTGAGCAATTTGCAGCGAGGGGCCGGCTCC
CTAGAGCTCTACCTGGACTGCATCCAGGTGGATTCCGTTCACAATCTCCCCAGGGCCTTTGCTGGCCCCTCCCAGAAACCTGAGACCATTGAATTGAGGACTTTC
CAGAGGAAGCCACAGGACTTCTTGGAAGAGCTGAAGCTGGTGGTGAGAGGCTCACTGTTCCAGGTGGCCAGCCTGCAAGACTGCTTCCTGCAGCAGAGTGAGCCA
CTGGCTGCCACAGGCACAGGGGACTTTAACCGGCAGTTCTTGGGTCAAATGACACAATTAAACCAACTCCTGGGAGAGGTGAAGGACCTTCTGAGACAGCAGGTT
AAGGAAACATCATTTTTGCGAAACACCATAGCTGAATGCCAGGCTTGCGGTCCTCTCAAGTTTCAGTCTCCGACCCCAAGCACGGTGGTGCCCCCGGCTCCCCCT
GCACCGCCAACACGCCCACCTCGTCGGTGTGACTCCAACCCATGTTTCCGAGGTGTCCAATGTACCGACAGTAGAGATGGCTTCCAGTGTGGGCCCTGCCCCGAG
GGCTACACAGGAAACGGGATCACCTGTATTGATGTTGATGAGTGCAAATACCATCCCTGCTACCCGGGCGTGCACTGCATAAATTTGTCTCCTGGCTTCAGATGT
GACGCCTGCCCAGTGGGCTTCACAGGGCCCATGGTGCAGGGTGTTGGGATCAGTTTTGCCAAGTCAAACAAGCAGGTCTGCACTGACATTGATGAGTGTCGAAAT
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>THBS4|7060|protein
MLAPRGAAVLLLHLVLQRWLAAGAQATPQVFDLLPSSSQRLNPGALLPVLTDPALNDLYVISTFKLQTKSSATIFGLYSSTDNSKYFEFTVMGRLNKAILRYLKN
DGKVHLVVFNNLQLADGRRHRILLRLSNLQRGAGSLELYLDCIQVDSVHNLPRAFAGPSQKPETIELRTFQRKPQDFLEELKLVVRGSLFQVASLQDCFLQQSEP
LAATGTGDFNRQFLGQMTQLNQLLGEVKDLLRQQVKETSFLRNTIAECQACGPLKFQSPTPSTVVPPAPPAPPTRPPRRCDSNPCFRGVQCTDSRDGFQCGPCPE
GYTGNGITCIDVDECKYHPCYPGVHCINLSPGFRCDACPVGFTGPMVQGVGISFAKSNKQVCTDIDECRNGACVPNSICVNTLGSYRCGPCKPGYTGDQIRGCKA
ERNCRNPELNPCSVNAQCIEERQGDVTCVCGVGWAGDGYICGKDVDIDSYPDEELPCSARNCKKDNCKYVPNSGQEDADRDGIGDACDEDADGDGILNEQDNCVL
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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 (2) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Salyakina, 2010_2 Replication Illumina HumanHap 550K BeadChip 110 -
(-)
AS -
(3-21)
-
>70
Salyakina, 2010_1 Discovery Illumina HumanHap 550K BeadChip 124 -
(-)
AS -
(3-21)
-
>70
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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
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