AutismKB 2.0

Evidence Details for PLCB1


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Basic Information Top
Gene Symbol:PLCB1 ( FLJ45792,PI-PLC,PLC-154,PLC-I,PLC154 )
Gene Full Name: phospholipase C, beta 1 (phosphoinositide-specific)
Band: 20p12.3
Quick LinksEntrez ID:23236; OMIM: 607120; Uniprot ID:PLCB1_HUMAN; ENSEMBL ID: ENSG00000182621; HGNC ID: 15917
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLCB1|23236|nucleotide
ATGGCCGGGGCTCAACCCGGAGTGCACGCCTTGCAACTCAAGCCCGTGTGCGTGTCCGACAGCCTCAAGAAGGGCACCAAATTCGTCAAGTGGGATGATGACTCA
ACTATTGTTACTCCAATTATTTTGAGGACTGACCCTCAGGGATTTTTCTTTTACTGGACAGATCAAAACAAGGAGACAGAGCTACTGGATCTCAGCCTTGTCAAA
GATGCCAGATGTGGGAGACACGCCAAAGCTCCCAAGGACCCCAAATTACGTGAACTTTTGGATGTGGGGAACATCGGGCGCCTGGAGCAGCGCATGATCACAGTG
GTGTATGGGCCTGACCTCGTGAACATCTCCCATTTGAATCTCGTGGCTTTCCAAGAAGAAGTGGCCAAGGAATGGACAAATGAGGTTTTCAGTTTGGCAACAAAC
CTGCTGGCCCAAAACATGTCCAGGGATGCATTTCTGGAAAAAGCCTATACTAAACTTAAGCTGCAAGTCACTCCAGAAGGGCGTATTCCTCTCAAAAACATATAT
CGCTTGTTTTCAGCAGATCGGAAGCGAGTTGAAACTGCTTTAGAGGCTTGTAGTCTTCCATCTTCAAGGAATGATTCAATACCTCAAGAAGATTTCACTCCAGAA
GTGTACAGAGTTTTCCTCAACAACCTTTGCCCTCGACCTGAAATTGATAACATCTTTTCAGAATTTGGTGCAAAAAGCAAACCATATCTTACCGTTGATCAGATG
ATGGATTTTATCAACCTTAAGCAGCGAGATCCTCGGCTTAATGAAATACTTTATCCACCTCTAAAACAAGAGCAAGTCCAAGTATTGATTGAGAAGTATGAACCC
AACAACAGCCTCGCCAGAAAAGGACAAATATCAGTGGATGGGTTCATGCGCTATCTGAGTGGAGAAGAAAACGGAGTCGTTTCACCTGAGAAACTGGATTTGAAT
GAAGACATGTCTCAGCCCCTTTCTCACTATTTCATTAATTCCTCGCACAACACCTACCTCACAGCTGGCCAACTGGCTGGAAACTCCTCTGTTGAGATGTATCGC
CAAGTGCTCCTGTCTGGTTGTCGCTGTGTGGAGCTGGACTGCTGGAAGGGACGGACTGCAGAAGAGGAACCTGTCATCACCCATGGCTTCACCATGACAACTGAA
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>PLCB1|23236|protein
MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDDSTIVTPIILRTDPQGFFFYWTDQNKETELLDLSLVKDARCGRHAKAPKDPKLRELLDVGNIGRLEQRMITV
VYGPDLVNISHLNLVAFQEEVAKEWTNEVFSLATNLLAQNMSRDAFLEKAYTKLKLQVTPEGRIPLKNIYRLFSADRKRVETALEACSLPSSRNDSIPQEDFTPE
VYRVFLNNLCPRPEIDNIFSEFGAKSKPYLTVDQMMDFINLKQRDPRLNEILYPPLKQEQVQVLIEKYEPNNSLARKGQISVDGFMRYLSGEENGVVSPEKLDLN
EDMSQPLSHYFINSSHNTYLTAGQLAGNSSVEMYRQVLLSGCRCVELDCWKGRTAEEEPVITHGFTMTTEISFKEVIEAIAECAFKTSPFPILLSFENHVDSPKQ
QAKMAEYCRLIFGDALLMEPLEKYPLESGVPLPSPMDLMYKILVKNKKKSHKSSEGSGKKKLSEQASNTYSDSSSMFEPSSPGAGEADTESDDDDDDDDCKKSSM
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (5)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top