AutismKB 2.0

Evidence Details for SV2A


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Basic Information Top
Gene Symbol:SV2A ( KIAA0736,SV2 )
Gene Full Name: synaptic vesicle glycoprotein 2A
Band: 1q21.2
Quick LinksEntrez ID:9900; OMIM: 185860; Uniprot ID:SV2A_HUMAN; ENSEMBL ID: ENSG00000159164; HGNC ID: 20566
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SV2A|9900|nucleotide
ATGGAAGAGGGCTTCCGAGACCGGGCAGCTTTCATCCGTGGGGCCAAAGACATTGCTAAGGAAGTCAAAAAGCATGCGGCCAAGAAGGTGGTGAAGGGCCTGGAC
AGAGTCCAGGACGAATATTCCCGAAGATCGTACTCCCGCTTTGAGGAGGAGGATGATGATGATGACTTCCCTGCTCCCAGTGATGGTTATTACCGAGGAGAAGGG
ACCCAGGATGAGGAGGAAGGTGGTGCATCCAGTGATGCTACTGAGGGCCATGACGAGGATGATGAGATCTATGAAGGGGAATATCAGGGCATTCCCCGGGCAGAG
TCTGGGGGCAAAGGCGAGCGGATGGCAGATGGGGCGCCCCTGGCTGGAGTAAGGGGGGGCTTGAGTGATGGGGAGGGTCCCCCTGGGGGCCGGGGGGAGGCACAA
CGACGGAAAGAACGAGAAGAACTGGCCCAACAGTATGAAGCCATCCTACGGGAGTGTGGCCACGGCCGCTTCCAGTGGACACTGTATTTTGTGCTTGGTCTGGCG
CTGATGGCTGACGGTGTGGAGGTCTTTGTGGTGGGCTTCGTGCTGCCCAGCGCTGAGAAAGACATGTGCCTGTCCGACTCCAACAAAGGCATGCTAGGCCTCATC
GTCTACCTGGGCATGATGGTGGGAGCCTTCCTCTGGGGAGGTCTGGCTGACCGGCTGGGTCGGAGGCAGTGTCTGCTCATCTCGCTCTCAGTCAACAGCGTCTTC
GCCTTCTTCTCATCTTTTGTCCAGGGTTACGGCACTTTCCTCTTCTGCCGCCTACTTTCTGGGGTTGGGATTGGAGGGTCCATCCCCATTGTCTTCTCCTATTTC
TCCGAGTTTCTGGCCCAGGAGAAACGAGGGGAGCATTTGAGCTGGCTCTGCATGTTTTGGATGATTGGTGGCGTGTACGCAGCTGCTATGGCCTGGGCCATCATC
CCCCACTATGGGTGGAGTTTTCAGATGGGTTCTGCCTACCAGTTCCACAGCTGGAGGGTCTTCGTCCTCGTCTGCGCCTTTCCTTCTGTGTTTGCCATTGGGGCT
CTGACCACGCAGCCTGAGAGCCCCCGTTTCTTCCTAGAGAATGGAAAGCATGATGAGGCCTGGATGGTGCTGAAGCAGGTCCATGATACCAACATGCGAGCCAAA
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>SV2A|9900|protein
MEEGFRDRAAFIRGAKDIAKEVKKHAAKKVVKGLDRVQDEYSRRSYSRFEEEDDDDDFPAPSDGYYRGEGTQDEEEGGASSDATEGHDEDDEIYEGEYQGIPRAE
SGGKGERMADGAPLAGVRGGLSDGEGPPGGRGEAQRRKEREELAQQYEAILRECGHGRFQWTLYFVLGLALMADGVEVFVVGFVLPSAEKDMCLSDSNKGMLGLI
VYLGMMVGAFLWGGLADRLGRRQCLLISLSVNSVFAFFSSFVQGYGTFLFCRLLSGVGIGGSIPIVFSYFSEFLAQEKRGEHLSWLCMFWMIGGVYAAAMAWAII
PHYGWSFQMGSAYQFHSWRVFVLVCAFPSVFAIGALTTQPESPRFFLENGKHDEAWMVLKQVHDTNMRAKGHPERVFSVTHIKTIHQEDELIEIQSDTGTWYQRW
GVRALSLGGQVWGNFLSCFGPEYRRITLMMMGVWFTMSFSYYGLTVWFPDMIRHLQAVDYASRTKVFPGERVEHVTFNFTLENQIHRGGQYFNDKFIGLRLKSVS
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (2) 0 (0) 0 (0) 0 (4)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top