AutismKB 2.0

Evidence Details for CPEB2


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Basic Information Top
Gene Symbol:CPEB2 ( CPE-BP2,CPEB-2,MGC119575,MGC119576,MGC119577,hCPEB-2 )
Gene Full Name: cytoplasmic polyadenylation element binding protein 2
Band: 4p15.32
Quick LinksEntrez ID:132864; OMIM: 610605; Uniprot ID:CPEB2_HUMAN; ENSEMBL ID: ENSG00000137449; HGNC ID: 21745
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPEB2|132864|nucleotide
ATGAGGGATTTCGGGTTTGGGGTGCTGCAGACCGCCCCGCTCCGAAGTAGCAGTCCTGGGCCCCTGTTCTGCGGCGAGGCGTATGGTCCTTACGCCGTGGGGTCC
GTCAACCCGCTGCCCTCCGCCACGCCCTTCGGCCCACTGTCGCCACCACCGTTGCCTGTCACCGGCTTCTTAGAGGCCGCCTCCCCCTTCTCCGTCCCCCTCGGC
GGCGGCGCGGGCAGCCCGGCCGCCGCCGCTTCCTCTTCCTCCCCGTTCCTGGCGCATCAGCAGACCATGCAGGATGAGCTGCTTCTGGGGCTGACACAGCAGCCG
GCGCGGCCGCTTTCGGGGGCGGCGGCCACGGAGAAACTCCCCGACCACCACCCCGGCGGCGGCACGATCGCGGGTGTGACCCACCTCCTCCCCTCCCAGGACTTC
AAACCGAGTCTGCACCACCCCTCCTCCTCCTCCGCCTCCTCCTGCTGCTGCTGCCGCACCTCCTCCCCGCAGGACTTCAGTAAGCGGCAGCAGCAGCAGCTGAGC
AGCCAGAAGAGGAAAGAGTTCAGCCCTCCCCACCTTCCCCACCCTCCGGACTCGAAGCCGCCGCCGCCGCCTCCGCCGCTCCACTGCCCCGGTCGGTTCAGCCCG
CCGCCGCCGCCAGCCGGCCCGCTCCTCCAGCCGGCGCAGCTCGCTCAGCGCCAGCAGCAACAGCCGCCGCAGCAGTTCAGCCTCCTGCATCAGCAGCACCTCTCG
CCGCAGGACTTCGCCCCGCGGCAGCGTCCGGCAGACCTGCCCCCGCTCCCGCAGCTCCCTCCCTCGCCGCCTGCAGCCCCGCGGCGCCGCCACGGAGGCGCGGGC
AGCCCTCGCAAGACCCCAGCCGCGGGCGAGGGCAGCGCCGCCGAGTCCCCCAATGCGGGCTTGGCCTCCTCGACGCCGGTGAACCCCGCGCCGGGCTCCATGGAG
TCCCCCAACCACCCTCTGCTCAACAGTCCCAGTAACCTCCTGCCCGGAGGTGCGCTTGGCGCGGGCGCCTTCAGCAGCCTGCAGAGCCCGGACCTTCCACACCCG
GGCGGCGGCGGCGGCGGCGGGGGCGGGGGGCCCCCAGGAGGCGGAGGGGGAGGCGGCTCCGCGTCGCCGCCGCCGCTGCCCGGCTTCGGCACCCCCTGGTCGGTG
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>CPEB2|132864|protein
MRDFGFGVLQTAPLRSSSPGPLFCGEAYGPYAVGSVNPLPSATPFGPLSPPPLPVTGFLEAASPFSVPLGGGAGSPAAAASSSSPFLAHQQTMQDELLLGLTQQP
ARPLSGAAATEKLPDHHPGGGTIAGVTHLLPSQDFKPSLHHPSSSSASSCCCCRTSSPQDFSKRQQQQLSSQKRKEFSPPHLPHPPDSKPPPPPPPLHCPGRFSP
PPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSME
SPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPP
GSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRR
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top