AutismKB 2.0

Evidence Details for THAP9


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Basic Information Top
Gene Symbol:THAP9 ( FLJ23320,FLJ34093 )
Gene Full Name: THAP domain containing 9
Band: 4q21.22
Quick LinksEntrez ID:79725; OMIM: 612537; Uniprot ID:THAP9_HUMAN; ENSEMBL ID: ENSG00000168152; HGNC ID: 23192
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>THAP9|79725|nucleotide
ATGACCCGAAGTTGCTCCGCAGTGGGCTGCAGCACCCGTGACACCGTGCTCAGCCGGGAGCGCGGCCTCTCCTTCCACCAATTTCCAACTGATACCATACAGCGC
TCAAAATGGATCAGGGCTGTTAATCGTGTGGACCCCAGAAGCAAAAAGATTTGGATTCCAGGACCAGGTGCTATACTGTGTTCCAAACATTTTCAAGAAAGTGAC
TTTGAGTCATATGGCATAAGAAGAAAGCTGAAAAAAGGAGCTGTGCCTTCTGTTTCTCTATACAAGATTCCTCAAGGTGTACATCTTAAAGGTAAAGCAAGACAA
AAAATCCTAAAACAACCTCTTCCAGACAATTCTCAAGAAGTTGCTACTGAGGACCATAACTATAGTTTAAAGACACCTTTGACGATAGGTGCAGAGAAACTGGCT
GAGGTGCAACAAATGTTACAAGTGTCCAAAAAAAGACTTATCTCCGTAAAGAACTACAGGATGATCAAGAAGAGAAAGGGTTTACGATTAATTGATGCACTTGTA
GAAGAGAAACTACTTTCTGAAGAAACAGAGTGTCTGCTACGAGCTCAATTTTCAGATTTTAAGTGGGAGTTATATAATTGGAGAGAAACAGATGAGTACTCCGCA
GAAATGAAACAATTTGCATGTACACTCTACTTGTGCAGTAGCAAAGTCTATGATTATGTAAGAAAGATTCTTAAGCTGCCTCATTCTTCCATCCTCAGAACGTGG
TTATCCAAATGCCAACCCAGTCCAGGTTTCAACAGCAACATTTTTTCTTTTCTTCAACGAAGAGTAGAGAATGGAGATCAGCTCTATCAATACTGTTCATTGTTA
ATAAAAAGTATGCCTCTCAAGCAACAGCTTCAGTGGGATCCTAGCAGTCACAGTTTGCAGGGGTTTATGGACTTTGGTCTTGGAAAACTTGATGCTGATGAAACG
CCACTTGCTTCAGAAACTGTTTTGTTAATGGCAGTGGGTATTTTTGGCCATTGGAGAACACCTCTTGGTTATTTTTTTGTAAACAGAGCATCTGGATATTTGCAG
GCTCAGCTGCTTCGTCTGACTATTGGTAAACTGAGTGACATAGGAATCACAGTTCTGGCTGTTACATCTGATGCCACAGCACATAGTGTTCAGATGGCAAAAGCA
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>THAP9|79725|protein
MTRSCSAVGCSTRDTVLSRERGLSFHQFPTDTIQRSKWIRAVNRVDPRSKKIWIPGPGAILCSKHFQESDFESYGIRRKLKKGAVPSVSLYKIPQGVHLKGKARQ
KILKQPLPDNSQEVATEDHNYSLKTPLTIGAEKLAEVQQMLQVSKKRLISVKNYRMIKKRKGLRLIDALVEEKLLSEETECLLRAQFSDFKWELYNWRETDEYSA
EMKQFACTLYLCSSKVYDYVRKILKLPHSSILRTWLSKCQPSPGFNSNIFSFLQRRVENGDQLYQYCSLLIKSMPLKQQLQWDPSSHSLQGFMDFGLGKLDADET
PLASETVLLMAVGIFGHWRTPLGYFFVNRASGYLQAQLLRLTIGKLSDIGITVLAVTSDATAHSVQMAKALGIHIDGDDMKCTFQHPSSSSQQIAYFFDSCHLLR
LIRNAFQNFQSIQFINGIAHWQHLVELVALEEQELSNMERIPSTLANLKNHVLKVNSATQLFSESVASALEYLLSLDLPPFQNCIGTIHFLRLINNLFDIFNSRN
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top