Evidence Details for TFAP2B
Basic Information Top
| Gene Symbol: | TFAP2B ( AP-2B,AP2-B,MGC21381 ) |
|---|---|
| Gene Full Name: | transcription factor AP-2 beta (activating enhancer binding protein 2 beta) |
| Band: | 6p12.3 |
| Quick Links | Entrez ID:7021; OMIM: 601601; Uniprot ID:AP2B_HUMAN; ENSEMBL ID: ENSG00000008196; HGNC ID: 11743 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TFAP2B|7021|nucleotide
ATGCACTCACCTCCTAGAGACCAGGCTGCCATCATGCTCTGGAAGCTTGTGGAGAATGTCAAGTACGAAGATATCTATGAGGACCGGCACGATGGTGTCCCGAGC
CACAGCTCGCGGCTCTCCCAGCTGGGCTCGGTGTCCCAAGGACCCTACTCGAGCGCCCCGCCGCTGTCCCACACCCCGTCGTCGGACTTCCAGCCGCCCTACTTC
CCACCCCCCTACCAGCCGCTCCCCTACCACCAGAGCCAGGACCCCTACTCCCACGTCAACGACCCCTACTCCCTGAACCCACTGCACCAGCCCCAGCAACATCCC
TGGGGGCAACGGCAGCGGCAAGAAGTGGGTTCGGAAGCCGGCTCTCTCCTGCCCCAGCCTCGGGCCGCCTTGCCCCAGCTCTCGGGCCTTGACCCCCGGAGGGAC
TACCACTCGGTCCGCCGGCCGGACGTGCTGCTGCATTCGGCGCACCACGGCCTGGACGCGGGCATGGGTGACAGCCTCTCGCTGCACGGCCTCGGCCATCCCGGA
ATGGAAGACGTCCAGTCAGTTGAAGATGCCAATAACAGCGGCATGAATCTATTGGACCAGTCTGTCATTAAAAAAGTTCCAGTTCCTCCCAAATCGGTGACTTCT
CTAATGATGAATAAAGACGGCTTCCTGGGAGGCATGTCTGTCAACACCGGCGAGGTGTTTTGCTCCGTCCCAGGCCGTTTGTCTCTGCTCAGTTCAACTTCGAAG
TACAAAGTAACTGTGGGAGAAGTTCAGAGACGGCTGTCGCCCCCTGAATGCCTCAATGCATCTCTCCTCGGCGGAGTCCTCAGAAGAGCCAAATCGAAAAATGGG
GGGAGATCTTTGCGAGAAAGGCTAGAAAAAATCGGTTTGAATTTACCCGCGGGCAGGCGCAAAGCAGCAAATGTCACGTTACTCACCTCCCTGGTGGAAGGAGAA
GCTGTTCACTTAGCTAGGGATTTTGGGTACATTTGCGAAACGGAGTTTCCCGCCAAAGCCGTCTCTGAGTATTTGAACCGGCAGCACACAGACCCGAGTGACCTG
CACTCCCGAAAGAATATGCTGTTGGCCACCAAGCAACTTTGTAAAGAATTTACGGATCTACTGGCGCAGGACCGGACACCGATAGGGAACAGCCGACCCAGCCCC
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ATGCACTCACCTCCTAGAGACCAGGCTGCCATCATGCTCTGGAAGCTTGTGGAGAATGTCAAGTACGAAGATATCTATGAGGACCGGCACGATGGTGTCCCGAGC
CACAGCTCGCGGCTCTCCCAGCTGGGCTCGGTGTCCCAAGGACCCTACTCGAGCGCCCCGCCGCTGTCCCACACCCCGTCGTCGGACTTCCAGCCGCCCTACTTC
CCACCCCCCTACCAGCCGCTCCCCTACCACCAGAGCCAGGACCCCTACTCCCACGTCAACGACCCCTACTCCCTGAACCCACTGCACCAGCCCCAGCAACATCCC
TGGGGGCAACGGCAGCGGCAAGAAGTGGGTTCGGAAGCCGGCTCTCTCCTGCCCCAGCCTCGGGCCGCCTTGCCCCAGCTCTCGGGCCTTGACCCCCGGAGGGAC
TACCACTCGGTCCGCCGGCCGGACGTGCTGCTGCATTCGGCGCACCACGGCCTGGACGCGGGCATGGGTGACAGCCTCTCGCTGCACGGCCTCGGCCATCCCGGA
ATGGAAGACGTCCAGTCAGTTGAAGATGCCAATAACAGCGGCATGAATCTATTGGACCAGTCTGTCATTAAAAAAGTTCCAGTTCCTCCCAAATCGGTGACTTCT
CTAATGATGAATAAAGACGGCTTCCTGGGAGGCATGTCTGTCAACACCGGCGAGGTGTTTTGCTCCGTCCCAGGCCGTTTGTCTCTGCTCAGTTCAACTTCGAAG
TACAAAGTAACTGTGGGAGAAGTTCAGAGACGGCTGTCGCCCCCTGAATGCCTCAATGCATCTCTCCTCGGCGGAGTCCTCAGAAGAGCCAAATCGAAAAATGGG
GGGAGATCTTTGCGAGAAAGGCTAGAAAAAATCGGTTTGAATTTACCCGCGGGCAGGCGCAAAGCAGCAAATGTCACGTTACTCACCTCCCTGGTGGAAGGAGAA
GCTGTTCACTTAGCTAGGGATTTTGGGTACATTTGCGAAACGGAGTTTCCCGCCAAAGCCGTCTCTGAGTATTTGAACCGGCAGCACACAGACCCGAGTGACCTG
CACTCCCGAAAGAATATGCTGTTGGCCACCAAGCAACTTTGTAAAGAATTTACGGATCTACTGGCGCAGGACCGGACACCGATAGGGAACAGCCGACCCAGCCCC
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>TFAP2B|7021|protein
MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHP
WGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVIKKVPVPPKSVTS
LMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGE
AVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNY
LTEALKGMDKMFLNNTTTNRHTSGEGPGSKTGDKEEKHRK
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MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHP
WGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVIKKVPVPPKSVTS
LMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGE
AVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNY
LTEALKGMDKMFLNNTTTNRHTSGEGPGSKTGDKEEKHRK
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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 | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top