AutismKB 2.0

Evidence Details for PCLO


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Basic Information Top
Gene Symbol:PCLO ( ACZ,DKFZp779G1236 )
Gene Full Name: piccolo (presynaptic cytomatrix protein)
Band: 7q21.11
Quick LinksEntrez ID:27445; OMIM: 604918; Uniprot ID:PCLO_HUMAN; ENSEMBL ID: ENSG00000186472; HGNC ID: 13406
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCLO|27445|nucleotide
ATGGGCAACGAGGCGAGCTTGGAAGGGGAAGGGCTCCCCGAAGGGCTGGCGGCGGCCGCAGCGGCTGGAGGAGGAGCTAGCGGGGCGGGGAGCCCCTCTCACACC
GCGATCCCGGCCGGCATGGAGGCGGATTTGAGCCAGCTGAGCGAAGAGGAGAGGAGACAGATCGCCGCTGTCATGTCAAGGGCGCAGGGGCTGCCCAAGGGAAGC
GTCCCCCCGGCCGCTGCGGAGTCGCCTTCCATGCACAGGAAACAAGAGTTGGATAGTAGTCATCCTCCAAAGCAATCAGGAAGACCCCCGGACCCTGGGCGTCCA
GCTCAACCTGGTCTCAGTAAAAGTAGAACTACAGACACTTTCAGGTCAGAGCAGAAATTGCCTGGGAGGAGTCCTTCCACTATTAGCTTGAAAGAATCAAAGTCC
AGAACTGATTTAAAGGAAGAGCACAAGTCTAGTATGATGCCTGGCTTCCTCTCAGAGGTTAACGCTTTAAGTGCTGTTTCCTCTGTTGTAAATAAATTCAACCCT
TTTGATTTGATATCAGACTCTGAGGCATCCCAGGAAGAAACCACCAAGAAACAAAAAGTGGTTCAGAAGGAGCAAGGAAAACCTGAAGGAATCATAAAACCTCCT
TTACAACAACAGCCACCCAAGCCGATTCCTAAGCAGCAAGGACCTGGTAGGGATCCGCTTCAGCAGGATGGCACTCCCAAATCAATATCTTCTCAACAACCAGAA
AAAATTAAATCACAACCTCCAGGTACAGGAAAGCCAATTCAGGGTCCTACCCAGACTCCTCAGACAGACCATGCAAAATTGCCACTTCAACGAGATGCATCCAGG
CCTCAGACTAAACAGGCAGACATAGTAAGGGGAGAATCAGTTAAACCCTCACTGCCAAGCCCATCCAAACCACCTATTCAGCAACCAACTCCTGGAAAACCTCCA
GCACAGCAGCCTGGACATGAAAAATCACAGCCTGGGCCTGCAAAGCCCCCAGCTCAGCCCTCAGGGCTAACAAAGCCATTGGCTCAACAACCAGGGACAGTGAAA
CCCCCAGTCCAGCCACCAGGGACAACAAAGCCTCCAGCTCAGCCTCTTGGTCCTGCTAAGCCTCCAGCTCAGCAGACTGGGTCAGAGAAGCCTTCATCGGAGCAG
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>PCLO|27445|protein
MGNEASLEGEGLPEGLAAAAAAGGGASGAGSPSHTAIPAGMEADLSQLSEEERRQIAAVMSRAQGLPKGSVPPAAAESPSMHRKQELDSSHPPKQSGRPPDPGRP
AQPGLSKSRTTDTFRSEQKLPGRSPSTISLKESKSRTDLKEEHKSSMMPGFLSEVNALSAVSSVVNKFNPFDLISDSEASQEETTKKQKVVQKEQGKPEGIIKPP
LQQQPPKPIPKQQGPGRDPLQQDGTPKSISSQQPEKIKSQPPGTGKPIQGPTQTPQTDHAKLPLQRDASRPQTKQADIVRGESVKPSLPSPSKPPIQQPTPGKPP
AQQPGHEKSQPGPAKPPAQPSGLTKPLAQQPGTVKPPVQPPGTTKPPAQPLGPAKPPAQQTGSEKPSSEQPGPKALAQPPGVGKTPAQQPGPAKPPTQQVGTPKP
LAQQPGLQSPAKAPGPTKTPVQQPGPGKIPAQQAGPGKTSAQQTGPTKPPSQLPGPAKPPPQQPGPAKPPPQQPGSAKPPSQQPGSTKPPPQQPGPAKPSPQQPG
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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) 0 (0) 0 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Linkage Studies Top