Evidence Details for PLCB1
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 Links | Entrez 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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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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MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDDSTIVTPIILRTDPQGFFFYWTDQNKETELLDLSLVKDARCGRHAKAPKDPKLRELLDVGNIGRLEQRMITV
VYGPDLVNISHLNLVAFQEEVAKEWTNEVFSLATNLLAQNMSRDAFLEKAYTKLKLQVTPEGRIPLKNIYRLFSADRKRVETALEACSLPSSRNDSIPQEDFTPE
VYRVFLNNLCPRPEIDNIFSEFGAKSKPYLTVDQMMDFINLKQRDPRLNEILYPPLKQEQVQVLIEKYEPNNSLARKGQISVDGFMRYLSGEENGVVSPEKLDLN
EDMSQPLSHYFINSSHNTYLTAGQLAGNSSVEMYRQVLLSGCRCVELDCWKGRTAEEEPVITHGFTMTTEISFKEVIEAIAECAFKTSPFPILLSFENHVDSPKQ
QAKMAEYCRLIFGDALLMEPLEKYPLESGVPLPSPMDLMYKILVKNKKKSHKSSEGSGKKKLSEQASNTYSDSSSMFEPSSPGAGEADTESDDDDDDDDCKKSSM
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
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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 | aCGH | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 | ||
Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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