AutismKB 2.0

Evidence Details for SV2B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SV2B ( FLJ30413,FLJ42732,HsT19680,KIAA0735 )
Gene Full Name: synaptic vesicle glycoprotein 2B
Band: 15q26.1
Quick LinksEntrez ID:9899; OMIM: 185861; Uniprot ID:SV2B_HUMAN; ENSEMBL ID: ENSG00000185518; HGNC ID: 16874
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SV2B|9899|nucleotide
ATGATAGTCTACTTGGGAATGATGGCGGGCGCCTTCATCCTGGGAGGCCTGGCTGATAAGCTGGGAAGGAAGCGAGTCCTCAGCATGTCTCTGGCCGTCAATGCC
TCCTTCGCCTCCCTCTCTTCCTTCGTGCAGGGATATGGAGCCTTCCTCTTCTGCCGACTCATCTCAGGCATCGGTATTGGGGGTGCTCTACCGATTGTTTTTGCC
TATTTTTCTGAATTCTTGTCTCGGGAGAAGCGAGGAGAACACCTCAGTTGGCTGGGCATCTTCTGGATGACTGGGGGCCTGTACGCATCTGCCATGGCCTGGAGC
ATCATCCCACACTATGGCTGGGGCTTCAGCATGGGGACCAATTACCACTTCCATAGCTGGAGAGTGTTTGTCATCGTCTGTGCTCTGCCCTGCACCGTGTCCATG
GTGGCCCTGAAGTTCATGCCAGAGAGCCCAAGGTTTCTGCTAGAGATGGGCAAACATGATGAAGCCTGGATGATTCTCAAGCAAGTCCATGACACCAACATGAGA
GCTAAGGGGACCCCAGAGAAAGTGTTCACGGTTTCCAACATCAAAACTCCCAAGCAAATGGATGAATTCATTGAGATCCAAAGTTCAACAGGAACCTGGTACCAG
CGCTGGCTGGTCAGATTCAAGACCATTTTCAAGCAGGTCTGGGATAATGCCCTGTACTGTGTGATGGGGCCCTACAGAATGAATACACTGATTCTGGCCGTGGTT
TGGTTTGCCATGGCATTCAGTTACTATGGACTGACAGTTTGGTTTCCTGATATGATCCGCTATTTTCAAGATGAAGAATACAAGTCTAAAATGAAGGTGTTTTTT
GGTGAGCATGTGTACGGCGCCACAATCAACTTCACGATGGAAAATCAGATCCACCAACATGGGAAACTTGTGAATGATAAGTTCACAAGAATGTACTTTAAACAT
GTACTCTTTGAGGACACATTCTTTGACGAGTGCTATTTTGAAGACGTAACATCAACAGATACCTACTTCAAAAATTGTACCATTGAATCAACCATCTTTTACAAC
ACAGACCTCTACGAGCACAAGTTCATCAACTGTCGGTTTATCAACTCCACCTTCCTGGAGCAGAAGGAGGGCTGCCACATGGACTTGGAGCAAGATAATGACTTC
Show »

>SV2B|9899|protein
MIVYLGMMAGAFILGGLADKLGRKRVLSMSLAVNASFASLSSFVQGYGAFLFCRLISGIGIGGALPIVFAYFSEFLSREKRGEHLSWLGIFWMTGGLYASAMAWS
IIPHYGWGFSMGTNYHFHSWRVFVIVCALPCTVSMVALKFMPESPRFLLEMGKHDEAWMILKQVHDTNMRAKGTPEKVFTVSNIKTPKQMDEFIEIQSSTGTWYQ
RWLVRFKTIFKQVWDNALYCVMGPYRMNTLILAVVWFAMAFSYYGLTVWFPDMIRYFQDEEYKSKMKVFFGEHVYGATINFTMENQIHQHGKLVNDKFTRMYFKH
VLFEDTFFDECYFEDVTSTDTYFKNCTIESTIFYNTDLYEHKFINCRFINSTFLEQKEGCHMDLEQDNDFLIYLVSFLGSLSVLPGNIISALLMDRIGRLKMIGG
SMLISAVCCFFLFFGNSESAMIGWQCLFCGTSIAAWNALDVITVELYPTNQRATAFGILNGLCKFGAILGNTIFASFVGITKVVPILLAAASLVGGGLIALRLPE
Show »

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
Score (No. of Studies) No 0 (0) 1 (2) 1 (1) 0 (0) 2 (2) 1 (1) 0 (0) 0 (1) 0 (0) 16 (7)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top