AutismKB 2.0

Evidence Details for TFAP2D


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Basic Information Top
Gene Symbol:TFAP2D ( TFAP2BL1 )
Gene Full Name: transcription factor AP-2 delta (activating enhancer binding protein 2 delta)
Band: 6p12.3
Quick LinksEntrez ID:83741; OMIM: 610161; Uniprot ID:AP2D_HUMAN; ENSEMBL ID: ENSG00000008197; HGNC ID: 15581
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TFAP2D|83741|nucleotide
ATGTCAACTACCTTTCCGGGACTAGTCCACGATGCCGAGATACGTCACGACGGATCAAACAGCTACCGTTTGATGCAGCTTGGCTGTCTGGAGTCAGTAGCCAAT
TCCACTGTCGCCTATTCCTCCTCCTCTCCTTTAACTTACTCCACCACCGGCACCGAGTTTGCGTCCCCCTACTTCTCCACTAACCACCAGTACACCCCGCTCCAC
CACCAGTCCTTCCATTACGAGTTTCAGCACAGCCACCCGGCCGTCACCCCCGACGCCTACTCTCTGAACTCTCTCCACCACTCGCAACAGTACTACCAGCAGATC
CACCACGGGGAGCCCACCGACTTTATTAACCTGCACAATGCGCGGGCGCTCAAGTCGTCCTGCCTGGACGAGCAGAGGCGGGAGCTGGGCTGCCTCGATGCCTAC
CGCCGCCATGACCTGTCCCTCATGAGCCATGGCTCTCAGTATGGAATGCACCCAGATCAAAGACTCCTGCCAGGGCCCAGCCTGGGGCTGGCCGCCGCGGGAGCA
GACGACTTGCAGGGCTCTGTGGAGGCCCAGTGTGGGCTTGTTCTCAATGGCCAAGGTGGAGTGATAAGAAGAGGTGGCACCTGTGTGGTCAACCCCACAGACTTA
TTTTGCTCTGTCCCTGGCCGTTTGTCCCTTCTTAGTTCTACTTCCAAATACAAGGTGACCATTGCTGAGGTAAAGAGGCGCCTCTCCCCACCTGAGTGCCTCAAT
GCTTCACTCTTGGGAGGCATTTTGAGAAGAGCAAAATCAAAGAATGGGGGCCGCTGCCTGAGAGAGAAATTGGATAGGCTTGGCTTAAACTTACCAGCAGGAAGA
CGGAAAGCAGCTAATGTCACCCTCCTTACTTCCTTGGTTGAAGGGGAGGCTTTGCACTTGGCTCGGGATTTTGGCTACACTTGTGAAACAGAGTTTCCAGCCAAA
GCAGTAGGAGAACATCTTGCCAGACAACATATGGAACAGAAAGAACAGACAGCAAGAAAAAAGATGATCCTGGCGACCAAACAAATCTGTAAAGAATTCCAAGAC
CTCTTGAGCCAAGATAGATCACCACTGGGATCCTCCAGACCCACTCCAATTCTAGACCTTGACATCCAGAGACATTTAACACATTTCAGTTTGATCACTCATGGC
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>TFAP2D|83741|protein
MSTTFPGLVHDAEIRHDGSNSYRLMQLGCLESVANSTVAYSSSSPLTYSTTGTEFASPYFSTNHQYTPLHHQSFHYEFQHSHPAVTPDAYSLNSLHHSQQYYQQI
HHGEPTDFINLHNARALKSSCLDEQRRELGCLDAYRRHDLSLMSHGSQYGMHPDQRLLPGPSLGLAAAGADDLQGSVEAQCGLVLNGQGGVIRRGGTCVVNPTDL
FCSVPGRLSLLSSTSKYKVTIAEVKRRLSPPECLNASLLGGILRRAKSKNGGRCLREKLDRLGLNLPAGRRKAANVTLLTSLVEGEALHLARDFGYTCETEFPAK
AVGEHLARQHMEQKEQTARKKMILATKQICKEFQDLLSQDRSPLGSSRPTPILDLDIQRHLTHFSLITHGFGTPAICAALSTFQTVLSEMLNYLEKHTTHKNGGA
ADSGQGHANSEKAPLRKTSEAAVKEGKTEKTD
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top