AutismKB 2.0

Evidence Details for AEBP2


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Basic Information Top
Gene Symbol:AEBP2 ( MGC17922 )
Gene Full Name: AE binding protein 2
Band: 12p12.3
Quick LinksEntrez ID:121536; OMIM: NA; Uniprot ID:AEBP2_HUMAN; ENSEMBL ID: ENSG00000139154; HGNC ID: 24051
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AEBP2|121536|nucleotide
ATGGCCGCCGCTATCACCGACATGGCCGACCTGGAGGAGCTCTCCCGCCTGAGCCCTCTGCCCCCCGGCAGCCCGGGTTCGGCGGCGCGGGGCCGGGCTGAGCCC
CCCGAGGAGGAGGAGGAAGAGGAGGAGGAGGAAGAGGAGGCGGAGGCCGAGGCGGTGGCGGCGCTGCTGCTGAACGGCGGCAGCGGTGGGGGCGGCGGAGGCGGC
GGCGGAGGAGTGGGGGGCGGCGAGGCAGAGACGATGTCGGAGCCGAGCCCCGAGAGCGCCAGCCAGGCCGGGGAGGACGAAGACGAGGAGGAGGACGACGAGGAG
GAGGAAGATGAGAGCAGCAGCAGCGGCGGGGGTGAGGAGGAGAGTAGCGCCGAGAGCCTGGTGGGCAGCAGCGGCGGGAGCAGCAGCGACGAGACCCGCTCGTTG
AGCCCCGGCGCCGCCAGCAGCAGCAGCGGGGATGGGGACGGCAAGGAGGGCCTGGAGGAGCCCAAGGGACCGCGGGGCAGCCAGGGCGGCGGCGGGGGCGGCAGC
AGTAGCAGCAGCGTAGTCTCCAGCGGCGGCGACGAGGGCTACGGGACTGGGGGAGGCGGAAGCAGCGCGACCTCCGGGGGCCGGCGGGGCAGCTTGGAGATGTCG
TCGGATGGGGAACCCCTGAGCCGCATGGACTCGGAGGACAGCATAAGCAGTACTATAATGGATGTAGACAGCACAATTTCCAGTGGGCGTTCAACTCCAGCAATG
ATGAATGGACAAGGAAGCACTACTTCTTCAAGCAAAAATATTGCCTATAATTGTTGTTGGGACCAGTGCCAGGCTTGCTTCAACTCTAGCCCAGATCTGGCAGAT
CACATCCGTTCCATACATGTAGATGGTCAGCGAGGAGGGGTATTTGTTTGCTTATGGAAAGGTTGTAAAGTATATAACACTCCATCTACCAGTCAAAGTTGGTTA
CAAAGGCATATGCTGACACACAGTGGAGACAAACCTTTCAAGTGTGTTGTTGGTGGCTGCAATGCCAGCTTTGCTTCTCAGGGAGGGCTAGCTCGTCATGTACCC
ACACACTTCAGTCAGCAGAACTCCTCAAAAGTTTCTAGCCAGCCAAAGGCCAAAGAAGAATCTCCTTCTAAAGCTGGAATGAACAAAAGGAGGAAATTAAAGAAC
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>AEBP2|121536|protein
MAAAITDMADLEELSRLSPLPPGSPGSAARGRAEPPEEEEEEEEEEEEAEAEAVAALLLNGGSGGGGGGGGGGVGGGEAETMSEPSPESASQAGEDEDEEEDDEE
EEDESSSSGGGEEESSAESLVGSSGGSSSDETRSLSPGAASSSSGDGDGKEGLEEPKGPRGSQGGGGGGSSSSSVVSSGGDEGYGTGGGGSSATSGGRRGSLEMS
SDGEPLSRMDSEDSISSTIMDVDSTISSGRSTPAMMNGQGSTTSSSKNIAYNCCWDQCQACFNSSPDLADHIRSIHVDGQRGGVFVCLWKGCKVYNTPSTSQSWL
QRHMLTHSGDKPFKCVVGGCNASFASQGGLARHVPTHFSQQNSSKVSSQPKAKEESPSKAGMNKRRKLKNKRRRSLPRPHDFFDAQTLDAIRHRAICFNLSAHIE
SLGKGHSVVFHSTVIAKRKEDSGKIKLLLHWMPEDILPDVWVNESERHQLKTKVVHLSKLPKDTALLLDPNIYRTMPQKRLKRTLIRKVFNLYLSKQ
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top