Evidence Details for THSD7A
Basic Information Top
| Gene Symbol: | THSD7A ( KIAA0960 ) |
|---|---|
| Gene Full Name: | thrombospondin, type I, domain containing 7A |
| Band: | 7p21.3 |
| Quick Links | Entrez ID:221981; OMIM: 612249; Uniprot ID:THS7A_HUMAN; ENSEMBL ID: ENSG00000005108; HGNC ID: 22207 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>THSD7A|221981|nucleotide
ATGGGGCTGCAAGCCAGGCGCTGGGCGTCCGGGAGCCGGGGCGCTGCGGGGCCGCGCCGGGGCGTCCTGCAGCTGCTGCCGCTGCCGCTGCCGCTGCCGCTGCTC
CTGCTGCTGCTGCTACGCCCGGGCGCCGGCAGGGCTGCGGCGCAGGGCGAGGCGGAGGCGCCCACCCTCTATCTGTGGAAGACTGGTCCATGGGGCCGATGTATG
GGAGATGAATGTGGTCCCGGAGGCATCCAAACGAGGGCTGTGTGGTGTGCTCATGTGGAGGGATGGACTACACTGCATACTAACTGTAAGCAGGCCGAGAGACCC
AATAACCAGCAGAATTGTTTCAAAGTTTGCGATTGGCACAAAGAGTTGTACGACTGGAGACTGGGACCTTGGAATCAGTGTCAGCCCGTGATTTCAAAAAGCCTA
GAGAAACCTCTTGAGTGCATTAAGGGGGAAGAAGGTATTCAGGTGAGGGAGATAGCGTGCATCCAGAAAGACAAAGACATTCCTGCGGAGGATATCATCTGTGAG
TACTTTGAGCCCAAGCCTCTCCTGGAGCAGGCTTGCCTCATTCCTTGCCAGCAAGATTGCATCGTGTCTGAATTTTCTGCCTGGTCCGAATGCTCCAAGACCTGC
GGCAGCGGGCTCCAGCACCGGACGCGTCATGTGGTGGCGCCCCCGCAGTTCGGAGGCTCTGGCTGTCCAAACCTGACGGAGTTCCAGGTGTGCCAATCCAGTCCA
TGCGAGGCCGAGGAGCTCAGGTACAGCCTGCATGTGGGGCCCTGGAGCACCTGCTCAATGCCCCACTCCCGACAAGTAAGACAAGCAAGGAGACGCGGGAAGAAT
AAAGAACGGGAAAAGGACCGCAGCAAAGGAGTAAAGGATCCAGAAGCCCGCGAGCTTATTAAGAAAAAGAGAAACAGAAACAGGCAGAACAGACAAGAGAACAAA
TATTGGGACATCCAGATTGGATATCAGACCAGAGAGGTTATGTGCATTAACAAGACGGGGAAAGCTGCTGATTTAAGCTTTTGCCAGCAAGAGAAGCTTCCAATG
ACCTTCCAGTCCTGTGTGATCACCAAAGAGTGCCAGGTTTCCGAGTGGTCAGAGTGGAGCCCCTGCTCAAAAACATGCCATGACATGGTGTCCCCTGCAGGCACT
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ATGGGGCTGCAAGCCAGGCGCTGGGCGTCCGGGAGCCGGGGCGCTGCGGGGCCGCGCCGGGGCGTCCTGCAGCTGCTGCCGCTGCCGCTGCCGCTGCCGCTGCTC
CTGCTGCTGCTGCTACGCCCGGGCGCCGGCAGGGCTGCGGCGCAGGGCGAGGCGGAGGCGCCCACCCTCTATCTGTGGAAGACTGGTCCATGGGGCCGATGTATG
GGAGATGAATGTGGTCCCGGAGGCATCCAAACGAGGGCTGTGTGGTGTGCTCATGTGGAGGGATGGACTACACTGCATACTAACTGTAAGCAGGCCGAGAGACCC
AATAACCAGCAGAATTGTTTCAAAGTTTGCGATTGGCACAAAGAGTTGTACGACTGGAGACTGGGACCTTGGAATCAGTGTCAGCCCGTGATTTCAAAAAGCCTA
GAGAAACCTCTTGAGTGCATTAAGGGGGAAGAAGGTATTCAGGTGAGGGAGATAGCGTGCATCCAGAAAGACAAAGACATTCCTGCGGAGGATATCATCTGTGAG
TACTTTGAGCCCAAGCCTCTCCTGGAGCAGGCTTGCCTCATTCCTTGCCAGCAAGATTGCATCGTGTCTGAATTTTCTGCCTGGTCCGAATGCTCCAAGACCTGC
GGCAGCGGGCTCCAGCACCGGACGCGTCATGTGGTGGCGCCCCCGCAGTTCGGAGGCTCTGGCTGTCCAAACCTGACGGAGTTCCAGGTGTGCCAATCCAGTCCA
TGCGAGGCCGAGGAGCTCAGGTACAGCCTGCATGTGGGGCCCTGGAGCACCTGCTCAATGCCCCACTCCCGACAAGTAAGACAAGCAAGGAGACGCGGGAAGAAT
AAAGAACGGGAAAAGGACCGCAGCAAAGGAGTAAAGGATCCAGAAGCCCGCGAGCTTATTAAGAAAAAGAGAAACAGAAACAGGCAGAACAGACAAGAGAACAAA
TATTGGGACATCCAGATTGGATATCAGACCAGAGAGGTTATGTGCATTAACAAGACGGGGAAAGCTGCTGATTTAAGCTTTTGCCAGCAAGAGAAGCTTCCAATG
ACCTTCCAGTCCTGTGTGATCACCAAAGAGTGCCAGGTTTCCGAGTGGTCAGAGTGGAGCCCCTGCTCAAAAACATGCCATGACATGGTGTCCCCTGCAGGCACT
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>THSD7A|221981|protein
MGLQARRWASGSRGAAGPRRGVLQLLPLPLPLPLLLLLLLRPGAGRAAAQGEAEAPTLYLWKTGPWGRCMGDECGPGGIQTRAVWCAHVEGWTTLHTNCKQAERP
NNQQNCFKVCDWHKELYDWRLGPWNQCQPVISKSLEKPLECIKGEEGIQVREIACIQKDKDIPAEDIICEYFEPKPLLEQACLIPCQQDCIVSEFSAWSECSKTC
GSGLQHRTRHVVAPPQFGGSGCPNLTEFQVCQSSPCEAEELRYSLHVGPWSTCSMPHSRQVRQARRRGKNKEREKDRSKGVKDPEARELIKKKRNRNRQNRQENK
YWDIQIGYQTREVMCINKTGKAADLSFCQQEKLPMTFQSCVITKECQVSEWSEWSPCSKTCHDMVSPAGTRVRTRTIRQFPIGSEKECPEFEEKEPCLSQGDGVV
PCATYGWRTTEWTECRVDPLLSQQDKRRGNQTALCGGGIQTREVYCVQANENLLSQLSTHKNKEASKPMDLKLCTGPIPNTTQLCHIPCPTECEVSPWSAWGPCT
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MGLQARRWASGSRGAAGPRRGVLQLLPLPLPLPLLLLLLLRPGAGRAAAQGEAEAPTLYLWKTGPWGRCMGDECGPGGIQTRAVWCAHVEGWTTLHTNCKQAERP
NNQQNCFKVCDWHKELYDWRLGPWNQCQPVISKSLEKPLECIKGEEGIQVREIACIQKDKDIPAEDIICEYFEPKPLLEQACLIPCQQDCIVSEFSAWSECSKTC
GSGLQHRTRHVVAPPQFGGSGCPNLTEFQVCQSSPCEAEELRYSLHVGPWSTCSMPHSRQVRQARRRGKNKEREKDRSKGVKDPEARELIKKKRNRNRQNRQENK
YWDIQIGYQTREVMCINKTGKAADLSFCQQEKLPMTFQSCVITKECQVSEWSEWSPCSKTCHDMVSPAGTRVRTRTIRQFPIGSEKECPEFEEKEPCLSQGDGVV
PCATYGWRTTEWTECRVDPLLSQQDKRRGNQTALCGGGIQTREVYCVQANENLLSQLSTHKNKEASKPMDLKLCTGPIPNTTQLCHIPCPTECEVSPWSAWGPCT
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Evidence summary TopClick 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 (1) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (1) | 0 (0) | 0 (7) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
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| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
| Krupp DR, 2017 | - | 2264 | 247 | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
NGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies TopContact 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.