AutismKB 2.0

Evidence Details for AEBP1


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Basic Information Top
Gene Symbol:AEBP1 ( ACLP,FLJ33612 )
Gene Full Name: AE binding protein 1
Band: 7p13
Quick LinksEntrez ID:165; OMIM: 602981; Uniprot ID:AEBP1_HUMAN; ENSEMBL ID: ENSG00000106624; HGNC ID: 303
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AEBP1|165|nucleotide
ATGGCGGCCGTGCGCGGGGCGCCCCTGCTCAGCTGCCTCCTGGCGTTGCTGGCCCTGTGCCCTGGAGGGCGCCCGCAGACGGTGCTGACCGACGACGAGATCGAG
GAGTTCCTCGAGGGCTTCCTGTCAGAGCTAGAACCTGAGCCCCGGGAGGACGACGTGGAGGCCCCGCCGCCTCCCGAGCCCACCCCGCGGGTCCGAAAAGCCCAG
GCGGGGGGCAAGCCAGGGAAGCGGCCAGGGACGGCCGCAGAAGTGCCTCCGGAAAAGACCAAAGACAAAGGGAAGAAAGGCAAGAAAGACAAAGGCCCCAAGGTG
CCCAAGGAGTCCTTGGAGGGGTCCCCCAGGCCGCCCAAGAAGGGGAAGGAGAAGCCACCCAAGGCCACCAAGAAGCCCAAGGAGAAGCCACCTAAGGCCACCAAG
AAGCCCAAGGAGAAGCCACCCAAGGCCACCAAGAAGCCCAAAGAGAAGCCACCCAAGGCCACCAAGAAGCCCCCGTCAGGGAAGAGGCCCCCCATTCTGGCTCCC
TCAGAAACCCTGGAGTGGCCACTGCCCCCACCCCCCAGCCCTGGCCCCGAGGAGCTACCCCAGGAGGGAGGGGCGCCCCTCTCAAATAACTGGCAGAATCCAGGA
GAGGAGACCCATGTGGAGGCACGGGAGCACCAGCCTGAGCCGGAGGAGGAGACCGAGCAACCCACACTGGACTACAATGACCAGATCGAGAGGGAGGACTATGAG
GACTTTGAGTACATTCGGCGCCAGAAGCAACCCAGGCCACCCCCAAGCAGAAGGAGGAGGCCCGAGCGGGTCTGGCCAGAGCCCCCTGAGGAGAAGGCCCCGGCC
CCAGCCCCGGAGGAGAGGATTGAGCCTCCTGTGAAGCCTCTGCTGCCCCCGCTGCCCCCTGACTATGGTGATGGTTACGTGATCCCCAACTACGATGACATGGAC
TATTACTTTGGGCCTCCTCCGCCCCAGAAGCCCGATGCTGAGCGCCAGACGGACGAAGAGAAGGAGGAGCTGAAGAAACCCAAAAAGGAGGACAGCAGCCCCAAG
GAGGAGACCGACAAGTGGGCAGTGGAGAAGGGCAAGGACCACAAAGAGCCCCGAAAGGGCGAGGAGTTGGAGGAGGAGTGGACGCCTACGGAGAAAGTCAAGTGT
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>AEBP1|165|protein
MAAVRGAPLLSCLLALLALCPGGRPQTVLTDDEIEEFLEGFLSELEPEPREDDVEAPPPPEPTPRVRKAQAGGKPGKRPGTAAEVPPEKTKDKGKKGKKDKGPKV
PKESLEGSPRPPKKGKEKPPKATKKPKEKPPKATKKPKEKPPKATKKPKEKPPKATKKPPSGKRPPILAPSETLEWPLPPPPSPGPEELPQEGGAPLSNNWQNPG
EETHVEAREHQPEPEEETEQPTLDYNDQIEREDYEDFEYIRRQKQPRPPPSRRRRPERVWPEPPEEKAPAPAPEERIEPPVKPLLPPLPPDYGDGYVIPNYDDMD
YYFGPPPPQKPDAERQTDEEKEELKKPKKEDSSPKEETDKWAVEKGKDHKEPRKGEELEEEWTPTEKVKCPPIGMESHRIEDNQIRASSMLRHGLGAQRGRLNMQ
TGATEDDYYDGAWCAEDDARTQWIEVDTRRTTRFTGVITQGRDSSIHDDFVTTFFVGFSNDSQTWVMYTNGYEEMTFHGNVDKDTPVLSELPEPVVARFIRIYPL
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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 (1) 1 (1) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 6 (4)
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
Wolpert, 2001 - FISHautism - - - - 1 - 1
Linkage Studies Top