AutismKB 2.0

Evidence Details for THSD7B


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Basic Information Top
Gene Symbol:THSD7B ( KIAA1679 )
Gene Full Name: thrombospondin, type I, domain containing 7B
Band: 2q22.1
Quick LinksEntrez ID:80731; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000144229; HGNC ID: 29348
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>THSD7B|80731|nucleotide
ATGCATAACACAGCAGATGAGGTGGTTTTGTATCACAAATTAGCAGGTCCGTGGGGAAGGTGTACAGGAGACTGTGGTCCCGGAGGAGTCCAGAGTCGGGCAGTG
TGGTGTTTTCATGTTGACGGGTGGACAAGTCACCTGTCTAACTGTGGTGAGAGCAACAGGCCTCCAAAGGAAAGAAGTTGTTTCCGAGTTTGTGACTGGCACAGT
GACCTCTTTCAGTGGGAGGTTTCTGACTGGCACCACTGTGTGCTTGTTCCTTACGCTCGCGGTGAAGTCAAGCCTCGGACTGCAGAGTGTGTGACGGCTCAGCAT
GGACTGCAGCACCGGATGGTGCGCTGCATTCAGAAGCTGAACCGAACTGTGGTTGCAAATGAAATATGCGAACACTTTGCCCTTCAGCCTCCTACAGAACAGGCT
TGCCTCATTCCTTGTCCCCGGGATTGTGTAGTATCTGAGTTCTTACCATGGTCCAACTGTAGCAAGGGATGTGGGAAGAAATTGCAGCATAGAACTCGCGCGGTC
ATAGCTCCCCCTCTCTTTGGTGGTTTGCAATGTCCAAATCTGACTGAGTCAAGAGCCTGTGATGCTCCCATTTCCTGTCCTCTTGGGGAAGAGGAATATACATTT
AGCCTTAAGGTTGGACCATGGAGTAAATGCAGACTGCCTCATCTTAAAGAAATTAATCCAAGCGGAAGAACTGTTCTGGATTTTAACTCTGATTCAAATGAGCGA
GTCACCTTTAAACATCAAAGTTACAAAGCACATCATCATTCGAAGTCTTGGGCAATAGAGATAGGTTATCAAACCCGGCAGGTTTCGTGTACAAGAAGTGATGGA
CAAAATGCTATGTTAAGCCTTTGCCTTCAAGATTCCTTCCCATTGACTGTTCAGTCCTGCATCATGCCCAAAGACTGTGAAACCTCCCAGTGGTCCTCCTGGAGC
CCCTGCTCCAAGACATGCCGTTCAGGGAGTCTCTTGCCAGGATTTAGGAGCAGGAGCCGGAACGTGAAGCACATGGCTATTGGAGGTGGAAAGGAGTGTCCTGAA
CTTCTTGAGAAAGAGGCCTGCATTGTTGAAGGAGAACTTCTGCAGCAATGTCCCAGGTATTCCTGGAGAACTTCTGAATGGAAAGAATGCCAAGTCTCTCTCCTC
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>THSD7B|80731|protein
MHNTADEVVLYHKLAGPWGRCTGDCGPGGVQSRAVWCFHVDGWTSHLSNCGESNRPPKERSCFRVCDWHSDLFQWEVSDWHHCVLVPYARGEVKPRTAECVTAQH
GLQHRMVRCIQKLNRTVVANEICEHFALQPPTEQACLIPCPRDCVVSEFLPWSNCSKGCGKKLQHRTRAVIAPPLFGGLQCPNLTESRACDAPISCPLGEEEYTF
SLKVGPWSKCRLPHLKEINPSGRTVLDFNSDSNERVTFKHQSYKAHHHSKSWAIEIGYQTRQVSCTRSDGQNAMLSLCLQDSFPLTVQSCIMPKDCETSQWSSWS
PCSKTCRSGSLLPGFRSRSRNVKHMAIGGGKECPELLEKEACIVEGELLQQCPRYSWRTSEWKECQVSLLLEQQDPHWHVTGPVCGGGIQTREVYCAQSVPAAAA
LRAKEVSRPVEKALCVGPAPLPSQLCNIPCSTDCIVSSWSAWGLCIHENCHDPQGKKGFRTRQRHVLMESTGPAGHCPHLVESVPCEDPMCYRWLASEGICFPDH
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top