AutismKB 2.0

Evidence Details for TAF3


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Basic Information Top
Gene Symbol:TAF3 ( MGC25063,TAF140,TAFII-140,TAFII140 )
Gene Full Name: TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa
Band: 10p14
Quick LinksEntrez ID:83860; OMIM: 606576; Uniprot ID:TAF3_HUMAN; ENSEMBL ID: ENSG00000165632; HGNC ID: 17303
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TAF3|83860|nucleotide
ATGTGCGAGAGTTACTCCAGGTCGTTGTTGAGGGTCTCGGTGGCGCAGATCTGCCAGGCGCTGGGCTGGGACTCGGTGCAGCTCAGCGCCTGCCACCTCCTCACG
GACGTGCTGCAGCGCTATCTGCAGCAGCTGGGCCGGGGCTGCCATCGGTACTCTGAGCTCTATGGCCGAACAGACCCAATTTTGGATGATGTTGGTGAAGCTTTC
CAGCTGATGGGGGTTAGTCTACATGAACTAGAAGACTATATTCACAACATTGAGCCTGTCACCTTCCCACACCAAATTCCGTCATTTCCTGTTAGCAAGAACAAT
GTACTTCAGTTTCCTCAACCTGGAAGTAAAGATGCAGAGGAAAGAAAAGAATACATTCCTGATTACCTGCCACCCATTGTGTCTTCTCAAGAAGAAGAAGAAGAA
GAGCAGGTGCCCACTGATGGAGGCACATCAGCAGAAGCCATGCAGGTTCCCTTGGAAGAAGATGATGAATTGGAGGAGGAAGAAATTATTAATGATGAGAATTTC
CTGGGCAAGAGACCACTGGATAGTCCTGAAGCTGAAGAACTGCCAGCCATGAAGCGGCCTCGGCTATTAAGCACTAAAGGGGACACGCTAGATGTTGTGTTATTG
GAAGCTCGAGAGCCACTCAGCTCAATAAATACTCAAAAGATCCCACCAATGCTTTCTCCAGTCCATGTACAGGACAGTACAGACTTGGCACCTCCCTCACCCGAG
CCGCCAATGTTGGCTCCAGTTGCAAAATCACAAATGCCAACTGCAAAACCATTAGAAACAAAGTCATTTACACCTAAAACAAAGACTAAAACTAGCTCTCCAGGA
CAGAAGACTAAATCACCTAAAACCGCCCAGTCACCAGCAATGGTCGGAAGTCCTATTCGATCACCAAAAACTGTATCCAAAGAAAAGAAATCACCTGGACGTTCC
AAGAGCCCCAAGAGTCCCAAGAGCCCCAAGGTCACGACTCACATTCCCCAAACACCTGTGAGACCTGAAACGCCCAACAGGACTCCTTCAGCTACACTCAGTGAA
AAAATCAGTAAAGAGACTATCCAGGTAAAACAAATACAGACACCCCCTGATGCTGGGAAACTGAACAGTGAGAATCAGCCGAAAAAGGCTGTGGTAGCAGATAAA
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>TAF3|83860|protein
MCESYSRSLLRVSVAQICQALGWDSVQLSACHLLTDVLQRYLQQLGRGCHRYSELYGRTDPILDDVGEAFQLMGVSLHELEDYIHNIEPVTFPHQIPSFPVSKNN
VLQFPQPGSKDAEERKEYIPDYLPPIVSSQEEEEEEQVPTDGGTSAEAMQVPLEEDDELEEEEIINDENFLGKRPLDSPEAEELPAMKRPRLLSTKGDTLDVVLL
EAREPLSSINTQKIPPMLSPVHVQDSTDLAPPSPEPPMLAPVAKSQMPTAKPLETKSFTPKTKTKTSSPGQKTKSPKTAQSPAMVGSPIRSPKTVSKEKKSPGRS
KSPKSPKSPKVTTHIPQTPVRPETPNRTPSATLSEKISKETIQVKQIQTPPDAGKLNSENQPKKAVVADKTIEASIDAVIARACAEREPDPFEFSSGSESEGDIF
TSPKRISGPECTTPKASTSANNFTKSGSTPLPLSGGTSSSDNSWTMDASIDEVVRKAKLGTPSNMPPNFPYISSPSVSPPTPEPLHKVYEEKTKLPSSVEVKKKL
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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 (3) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (7)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Asadollahi R, 2014 - CMA--NDDs - - - - 714 2528 3242
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top