AutismKB 2.0

Evidence Details for PLCB2


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Basic Information Top
Gene Symbol:PLCB2 ( FLJ38135 )
Gene Full Name: phospholipase C, beta 2
Band: 15q15.1
Quick LinksEntrez ID:5330; OMIM: 604114; Uniprot ID:PLCB2_HUMAN; ENSEMBL ID: ENSG00000137841; HGNC ID: 9055
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLCB2|5330|nucleotide
ATGTCTCTGCTCAACCCTGTCCTGCTGCCCCCCAAGGTGAAGGCCTATCTGAGCCAAGGGGAGCGCTTCATCAAATGGGATGATGAAACTACAGTTGCCTCTCCA
GTTATCCTCCGTGTGGATCCTAAGGGCTACTACTTATACTGGACGTATCAAAGTAAGGAGATGGAGTTTCTGGATATCACCAGCATCCGGGATACTCGCTTTGGG
AAGTTTGCCAAGATGCCCAAGAGCCAGAAGCTCCGGGACGTCTTCAACATGGACTTTCCTGATAACAGTTTCCTGCTGAAGACACTCACGGTGGTGTCCGGCCCG
GACATGGTGGACCTCACCTTCCACAACTTCGTCTCCTACAAGGAGAACGTGGGCAAGGCCTGGGCTGAGGACGTACTGGCCCTAGTCAAACATCCGCTGACGGCC
AACGCCTCCCGCAGCACCTTCCTGGACAAGATCCTTGTGAAGCTCAAGATGCAGCTCAACTCTGAAGGGAAGATTCCGGTGAAGAACTTTTTCCAGATGTTTCCT
GCTGACCGCAAGCGGGTGGAAGCTGCTCTCAGTGCCTGCCACCTCCCCAAAGGCAAAAATGACGCCATCAATCCTGAGGACTTCCCAGAACCTGTCTACAAGAGT
TTCCTCATGAGCCTCTGTCCTCGGCCAGAAATAGATGAGATCTTCACTTCTTACCATGCTAAGGCCAAACCCTACATGACGAAGGAGCACCTGACCAAATTCATC
AACCAGAAACAGCGGGACTCCCGGCTTAACTCCCTGCTGTTCCCGCCAGCACGGCCTGACCAGGTGCAGGGCCTCATCGACAAGTATGAGCCCAGTGGCATCAAT
GCACAGAGGGGCCAGCTGTCACCTGAAGGCATGGTCTGGTTTCTCTGTGGGCCAGAGAACAGCGTGCTGGCCCAGGACAAGCTGCTGCTCCACCACGACATGACG
CAGCCACTCAATCATTACTTCATCAACTCGTCCCACAACACCTACCTGACAGCCGGCCAGTTCTCAGGCCTCTCCTCGGCTGAGATGTACCGCCAGGTGCTGCTC
TCTGGCTGCCGTTGCGTGGAGCTAGACTGCTGGAAGGGGAAACCCCCTGACGAGGAGCCCATTATCACCCATGGCTTCACCATGACCACAGACATCTTCTTCAAA
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>PLCB2|5330|protein
MSLLNPVLLPPKVKAYLSQGERFIKWDDETTVASPVILRVDPKGYYLYWTYQSKEMEFLDITSIRDTRFGKFAKMPKSQKLRDVFNMDFPDNSFLLKTLTVVSGP
DMVDLTFHNFVSYKENVGKAWAEDVLALVKHPLTANASRSTFLDKILVKLKMQLNSEGKIPVKNFFQMFPADRKRVEAALSACHLPKGKNDAINPEDFPEPVYKS
FLMSLCPRPEIDEIFTSYHAKAKPYMTKEHLTKFINQKQRDSRLNSLLFPPARPDQVQGLIDKYEPSGINAQRGQLSPEGMVWFLCGPENSVLAQDKLLLHHDMT
QPLNHYFINSSHNTYLTAGQFSGLSSAEMYRQVLLSGCRCVELDCWKGKPPDEEPIITHGFTMTTDIFFKEAIEAIAESAFKTSPYPIILSFENHVDSPRQQAKM
AEYCRTIFGDMLLTEPLEKFPLKPGVPLPSPEDLRGKILIKNKKNQFSGPTSSSKDTGGEAEGSSPPSAPAGEGTVWAGEEGTELEEEEVEEEEEEESGNLDEEE
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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 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top