AutismKB 2.0

Evidence Details for THBS2


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Basic Information Top
Gene Symbol:THBS2 ( TSP2 )
Gene Full Name: thrombospondin 2
Band: 6q27
Quick LinksEntrez ID:7058; OMIM: 188061; Uniprot ID:TSP2_HUMAN; ENSEMBL ID: ENSG00000186340; HGNC ID: 11786
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>THBS2|7058|nucleotide
ATGGTCTGGAGGCTGGTCCTGCTGGCTCTGTGGGTGTGGCCCAGCACGCAAGCTGGTCACCAGGACAAAGACACGACCTTCGACCTTTTCAGTATCAGCAACATC
AACCGCAAGACCATTGGCGCCAAGCAGTTCCGCGGGCCCGACCCCGGCGTGCCGGCTTACCGCTTCGTGCGCTTTGACTACATCCCACCGGTGAACGCAGATGAC
CTCAGCAAGATCACCAAGATCATGCGGCAGAAGGAGGGCTTCTTCCTCACGGCCCAGCTCAAGCAGGACGGCAAGTCCAGGGGCACGCTGTTGGCTCTGGAGGGC
CCCGGTCTCTCCCAGAGGCAGTTCGAGATCGTCTCCAACGGCCCCGCGGACACGCTGGATCTCACCTACTGGATTGACGGCACCCGGCATGTGGTCTCCCTGGAG
GACGTCGGCCTGGCTGACTCGCAGTGGAAGAACGTCACCGTGCAGGTGGCTGGCGAGACCTACAGCTTGCACGTGGGCTGCGACCTCATAGACAGCTTCGCTCTG
GACGAGCCCTTCTACGAGCACCTGCAGGCGGAAAAGAGCCGGATGTACGTGGCCAAAGGCTCTGCCAGAGAGAGTCACTTCAGGGGTTTGCTTCAGAACGTCCAC
CTAGTGTTTGAAAACTCTGTGGAAGATATTCTAAGCAAGAAGGGTTGCCAGCAAGGCCAGGGAGCTGAGATCAACGCCATCAGTGAGAACACAGAGACGCTGCGC
CTGGGTCCGCATGTCACCACCGAGTACGTGGGCCCCAGCTCGGAGAGGAGGCCCGAGGTGTGCGAACGCTCGTGCGAGGAGCTGGGAAACATGGTCCAGGAGCTC
TCGGGGCTCCACGTCCTCGTGAACCAGCTCAGCGAGAACCTCAAGAGAGTGTCGAATGATAACCAGTTTCTCTGGGAGCTCATTGGTGGCCCTCCTAAGACAAGG
AACATGTCAGCTTGCTGGCAGGATGGCCGGTTCTTTGCGGAAAATGAAACGTGGGTGGTGGACAGCTGCACCACGTGTACCTGCAAGAAATTTAAAACCATTTGC
CACCAAATCACCTGCCCGCCTGCAACCTGCGCCAGTCCATCCTTTGTGGAAGGCGAATGCTGCCCTTCCTGCCTCCACTCGGTGGACGGTGAGGAGGGCTGGTCT
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>THBS2|7058|protein
MVWRLVLLALWVWPSTQAGHQDKDTTFDLFSISNINRKTIGAKQFRGPDPGVPAYRFVRFDYIPPVNADDLSKITKIMRQKEGFFLTAQLKQDGKSRGTLLALEG
PGLSQRQFEIVSNGPADTLDLTYWIDGTRHVVSLEDVGLADSQWKNVTVQVAGETYSLHVGCDLIDSFALDEPFYEHLQAEKSRMYVAKGSARESHFRGLLQNVH
LVFENSVEDILSKKGCQQGQGAEINAISENTETLRLGPHVTTEYVGPSSERRPEVCERSCEELGNMVQELSGLHVLVNQLSENLKRVSNDNQFLWELIGGPPKTR
NMSACWQDGRFFAENETWVVDSCTTCTCKKFKTICHQITCPPATCASPSFVEGECCPSCLHSVDGEEGWSPWAEWTQCSVTCGSGTQQRGRSCDVTSNTCLGPSI
QTRACSLSKCDTRIRQDGGWSHWSPWSSCSVTCGVGNITRIRLCNSPVPQMGGKNCKGSGRETKACQGAPCPIDGRWSPWSPWSACTVTCAGGIRERTRVCNSPE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 2 (3)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top