Evidence Details for THAP11
Basic Information Top
| Gene Symbol: | THAP11 ( CTG-B43a,CTG-B45d,RONIN ) |
|---|---|
| Gene Full Name: | THAP domain containing 11 |
| Band: | 16q22.1 |
| Quick Links | Entrez ID:57215; OMIM: 609119; Uniprot ID:THA11_HUMAN; ENSEMBL ID: ENSG00000168286; HGNC ID: 23194 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>THAP11|57215|nucleotide
ATGCCTGGCTTTACGTGCTGCGTGCCAGGCTGCTACAACAACTCGCACCGGGACAAGGCGCTGCACTTCTACACGTTTCCAAAGGACGCTGAGTTGCGGCGCCTC
TGGCTCAAGAACGTGTCGCGTGCCGGCGTCAGTGGGTGCTTCTCCACCTTCCAGCCCACCACAGGCCACCGTCTCTGCAGCGTTCACTTCCAGGGCGGCCGCAAG
ACCTACACGGTACGCGTCCCCACCATCTTCCCGCTGCGCGGCGTCAATGAGCGCAAAGTAGCGCGCAGACCCGCTGGGGCCGCGGCCGCCCGCCGCAGGCAGCAG
CAGCAACAGCAGCAGCAGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTCCTCACCCTCTGCCTCCACTGCC
CAGACTGCCCAGCTGCAGCCGAACCTGGTATCTGCTTCCGCGGCCGTGCTTCTCACCCTTCAGGCCACTGTAGACAGCAGTCAGGCTCCGGGATCCGTACAGCCG
GCGCCCATCACTCCCACTGGAGAAGACGTGAAGCCCATCGATCTCACAGTGCAAGTGGAGTTTGCAGCCGCAGAGGGCGCAGCCGCTGCGGCCGCCGCGTCGGAG
TTACAGGCTGCTACCGCAGGGCTGGAGGCTGCCGAGTGCCCTATGGGCCCCCAGTTGGTGGTGGTAGGGGAAGAGGGCTTCCCTGATACTGGCTCCGACCATTCG
TACTCCTTGTCGTCAGGCACCACGGAGGAGGAGCTCCTGCGCAAGCTGAATGAGCAGCGGGACATCCTGGCTCTGATGGAAGTGAAGATGAAAGAGATGAAAGGC
AGCATTCGCCACCTGCGTCTCACTGAGGCCAAGCTGCGCGAAGAACTGCGTGAGAAGGATCGGCTGCTTGCCATGGCTGTCATCCGCAAGAAGCACGGAATGTGA
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ATGCCTGGCTTTACGTGCTGCGTGCCAGGCTGCTACAACAACTCGCACCGGGACAAGGCGCTGCACTTCTACACGTTTCCAAAGGACGCTGAGTTGCGGCGCCTC
TGGCTCAAGAACGTGTCGCGTGCCGGCGTCAGTGGGTGCTTCTCCACCTTCCAGCCCACCACAGGCCACCGTCTCTGCAGCGTTCACTTCCAGGGCGGCCGCAAG
ACCTACACGGTACGCGTCCCCACCATCTTCCCGCTGCGCGGCGTCAATGAGCGCAAAGTAGCGCGCAGACCCGCTGGGGCCGCGGCCGCCCGCCGCAGGCAGCAG
CAGCAACAGCAGCAGCAGCAGCAACAGCAGCAACAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGTCCTCACCCTCTGCCTCCACTGCC
CAGACTGCCCAGCTGCAGCCGAACCTGGTATCTGCTTCCGCGGCCGTGCTTCTCACCCTTCAGGCCACTGTAGACAGCAGTCAGGCTCCGGGATCCGTACAGCCG
GCGCCCATCACTCCCACTGGAGAAGACGTGAAGCCCATCGATCTCACAGTGCAAGTGGAGTTTGCAGCCGCAGAGGGCGCAGCCGCTGCGGCCGCCGCGTCGGAG
TTACAGGCTGCTACCGCAGGGCTGGAGGCTGCCGAGTGCCCTATGGGCCCCCAGTTGGTGGTGGTAGGGGAAGAGGGCTTCCCTGATACTGGCTCCGACCATTCG
TACTCCTTGTCGTCAGGCACCACGGAGGAGGAGCTCCTGCGCAAGCTGAATGAGCAGCGGGACATCCTGGCTCTGATGGAAGTGAAGATGAAAGAGATGAAAGGC
AGCATTCGCCACCTGCGTCTCACTGAGGCCAAGCTGCGCGAAGAACTGCGTGAGAAGGATCGGCTGCTTGCCATGGCTGTCATCCGCAAGAAGCACGGAATGTGA
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>THAP11|57215|protein
MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQ
QQQQQQQQQQQQQQQQQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITPTGEDVKPIDLTVQVEFAAAEGAAAAAAASE
LQAATAGLEAAECPMGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKDRLLAMAVIRKKHGM
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MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQ
QQQQQQQQQQQQQQQQQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITPTGEDVKPIDLTVQVEFAAAEGAAAAAAASE
LQAATAGLEAAECPMGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKDRLLAMAVIRKKHGM
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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 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Bucan, 2009 | USA | SNP microarray |  | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
Linkage Studies Top