AutismKB 2.0

Evidence Details for THSD4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:THSD4 ( ADAMTSL6,FLJ13710,FVSY9334,PRO34005 )
Gene Full Name: thrombospondin, type I, domain containing 4
Band: 15q23
Quick LinksEntrez ID:79875; OMIM: NA; Uniprot ID:THSD4_HUMAN; ENSEMBL ID: ENSG00000187720; HGNC ID: 25835
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>THSD4|79875|nucleotide
ATGGTTTCCCATTTCATGGGGTCTCTCAGTGTCCTGTGTTTCCTTCTGCTGCTTGGATTCCAGTTCGTCTGCCCACAGCCCTCCACTCAACACAGGAAGGTCCCG
CAGCGGATGGCGGCGGAGGGCGCCCCCGAGGACGACGGCGGCGGCGGCGCCCCGGGAGTGTGGGGCGCCTGGGGCCCCTGGTCGGCCTGCTCGCGTAGCTGCAGC
GGCGGCGTGATGGAGCAGACGCGGCCCTGCCTGCCCCGCTCCTACCGCCTGCGCGGCGGCCAGCGGCCTGGCGCCCCTGCGCGCGCCTTCGCGGACCACGTGGTG
TCGGCGGTGCGCACGTCGGTGCCACTGCACCGGAGCCGCGACGAGACGCCAGCGCTGGCCGGTACGGACGCCAGCCGCCAGGGCCCCACGGTGCTGCGAGGCAGC
CGGCACCCACAGCCCCAGGGCCTCGAAGTCACTGGGGACAGAAGGAGCAGGACCCGTGGTACCATTGGCCCTGGCAAGTATGGCTATGGTAAGGCCCCATATATC
TTACCACTGCAGACAGACACTGCACACACGCCACAGAGGCTCCGGAGACAGAAGCTCTCATCCCGCCATTCCAGGTCCCAGGGAGCATCTTCTGCTAGGCATGGC
TACAGTTCACCAGCCCACCAGGTCCCCCAACATGGGCCTTTGTACCAAAGTGACAGTGGCCCTCGCTCTGGACTGCAGGCTGCGGAGGCCCCCATCTACCAGCTA
CCTTTGACCCATGATCAAGGCTACCCTGCAGCTTCAAGTCTCTTTCACAGCCCAGAAACAAGCAACAACCACGGTGTGGGGACCCATGGGGCAACTCAGAGCTTC
TCTCAGCCTGCCCGATCTACAGCAATCTCATGCATCGGGGCCTATCGGCAGTACAAGCTGTGCAACACCAACGTATGTCCAGAAAGCAGTAGAAGTATCCGGGAG
GTACAGTGTGCATCCTACAACAACAAGCCATTCATGGGCCGGTTTTATGAGTGGGAACCATTTGCAGAAGTAAAAGGCAATCGCAAATGTGAGTTGAACTGCCAG
GCAATGGGCTACCGCTTCTATGTACGGCAAGCTGAGAAAGTCATCGATGGCACCCCCTGTGACCAGAACGGCACGGCCATCTGTGTGTCTGGGCAGTGCAAGAGC
Show »

>THSD4|79875|protein
MVSHFMGSLSVLCFLLLLGFQFVCPQPSTQHRKVPQRMAAEGAPEDDGGGGAPGVWGAWGPWSACSRSCSGGVMEQTRPCLPRSYRLRGGQRPGAPARAFADHVV
SAVRTSVPLHRSRDETPALAGTDASRQGPTVLRGSRHPQPQGLEVTGDRRSRTRGTIGPGKYGYGKAPYILPLQTDTAHTPQRLRRQKLSSRHSRSQGASSARHG
YSSPAHQVPQHGPLYQSDSGPRSGLQAAEAPIYQLPLTHDQGYPAASSLFHSPETSNNHGVGTHGATQSFSQPARSTAISCIGAYRQYKLCNTNVCPESSRSIRE
VQCASYNNKPFMGRFYEWEPFAEVKGNRKCELNCQAMGYRFYVRQAEKVIDGTPCDQNGTAICVSGQCKSIGCDDYLGSDKVVDKCGVCGGDNTGCQVVSGVFKH
ALTSLGYHRVVEIPEGATKINITEMYKSNNYLALRSRSGRSIINGNWAIDRPGKYEGGGTMFTYKRPNEISSTAGESFLAEGPTNEILDVYMIHQQPNPGVHYEY
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) 1 (6) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 10 (7)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Turner TN, 2017 - Illumina X Ten --- 476 476 - 2064 Sanger sequencing
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