AutismKB 2.0

Evidence Details for PLXNB2


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Basic Information Top
Gene Symbol:PLXNB2 ( KIAA0315,MM1,Nbla00445,PLEXB2,dJ402G11.3 )
Gene Full Name: plexin B2
Band: 22q13.33
Quick LinksEntrez ID:23654; OMIM: 604293; Uniprot ID:PLXB2_HUMAN; ENSEMBL ID: ENSG00000196576; HGNC ID: 9104
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLXNB2|23654|nucleotide
ATGGCACTGCAGCTCTGGGCCCTGACCCTGCTGGGCCTGCTGGGCGCAGGTGCCAGCCTGAGGCCCCGCAAGCTGGACTTCTTCCGCAGCGAGAAAGAGCTGAAC
CACCTGGCTGTGGATGAGGCCTCAGGCGTGGTGTACCTGGGGGCGGTGAATGCCCTCTACCAGCTGGATGCGAAGCTGCAGCTGGAGCAGCAGGTGGCCACGGGC
CCGGCCCTGGACAACAAGAAGTGCACGCCGCCCATCGAGGCCAGCCAGTGCCATGAGGCTGAGATGACTGACAATGTCAACCAGCTGCTGCTGCTCGACCCTCCC
AGGAAGCGCCTGGTGGAGTGCGGCAGCCTCTTCAAGGGCATCTGCGCTCTGCGCGCCCTGAGCAACATCTCCCTCCGCCTGTTCTACGAGGACGGCAGCGGGGAG
AAGTCTTTCGTGGCCAGCAATGATGAGGGCGTGGCCACAGTGGGGCTGGTGAGCTCCACGGGTCCTGGTGGTGACCGCGTGCTGTTTGTGGGCAAAGGCAATGGG
CCACACGACAACGGCATCATCGTGAGCACTCGGCTGTTGGACCGGACTGACAGCAGGGAGGCCTTTGAAGCCTACACGGACCACGCCACCTACAAGGCCGGCTAC
CTGTCCACCAACACACAGCAGTTCGTGGCGGCCTTCGAGGACGGCCCCTACGTCTTCTTTGTCTTCAACCAGCAGGACAAGCACCCGGCCCGGAACCGCACGCTG
CTGGCACGCATGTGCAGAGAAGACCCCAACTACTACTCCTACCTGGAGATGGACCTGCAGTGCCGGGACCCCGACATCCACGCCGCTGCCTTTGGCACCTGCCTG
GCCGCCTCCGTGGCTGCGCCTGGCTCTGGCAGGGTGCTATATGCTGTCTTCAGCAGAGACAGCCGGAGCAGTGGGGGGCCCGGTGCGGGCCTCTGCCTGTTCCCG
CTGGACAAGGTGCACGCCAAGATGGAGGCCAACCGCAACGCCTGTTACACAGGCACCCGGGAGGCCCGTGACATCTTCTACAAGCCCTTCCACGGCGATATCCAG
TGCGGCGGCCACGCGCCGGGCTCCAGCAAGAGCTTCCCATGTGGCTCGGAGCACCTGCCCTACCCGCTGGGCAGCCGCGACGGGCTCAGAGGCACAGCCGTGCTG
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>PLXNB2|23654|protein
MALQLWALTLLGLLGAGASLRPRKLDFFRSEKELNHLAVDEASGVVYLGAVNALYQLDAKLQLEQQVATGPALDNKKCTPPIEASQCHEAEMTDNVNQLLLLDPP
RKRLVECGSLFKGICALRALSNISLRLFYEDGSGEKSFVASNDEGVATVGLVSSTGPGGDRVLFVGKGNGPHDNGIIVSTRLLDRTDSREAFEAYTDHATYKAGY
LSTNTQQFVAAFEDGPYVFFVFNQQDKHPARNRTLLARMCREDPNYYSYLEMDLQCRDPDIHAAAFGTCLAASVAAPGSGRVLYAVFSRDSRSSGGPGAGLCLFP
LDKVHAKMEANRNACYTGTREARDIFYKPFHGDIQCGGHAPGSSKSFPCGSEHLPYPLGSRDGLRGTAVLQRGGLNLTAVTVAAENNHTVAFLGTSDGRILKVYL
TPDGTSSEYDSILVEINKRVKRDLVLSGDLGSLYAMTQDKVFRLPVQECLSYPTCTQCRDSQDPYCGWCVVEGRCTRKAECPRAEEASHWLWSRSKSCVAVTSAQ
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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) 2 (8) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (9)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top