Evidence Details for SV2A
Basic Information Top
Gene Symbol: | SV2A ( KIAA0736,SV2 ) |
---|---|
Gene Full Name: | synaptic vesicle glycoprotein 2A |
Band: | 1q21.2 |
Quick Links | Entrez 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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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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MEEGFRDRAAFIRGAKDIAKEVKKHAAKKVVKGLDRVQDEYSRRSYSRFEEEDDDDDFPAPSDGYYRGEGTQDEEEGGASSDATEGHDEDDEIYEGEYQGIPRAE
SGGKGERMADGAPLAGVRGGLSDGEGPPGGRGEAQRRKEREELAQQYEAILRECGHGRFQWTLYFVLGLALMADGVEVFVVGFVLPSAEKDMCLSDSNKGMLGLI
VYLGMMVGAFLWGGLADRLGRRQCLLISLSVNSVFAFFSSFVQGYGTFLFCRLLSGVGIGGSIPIVFSYFSEFLAQEKRGEHLSWLCMFWMIGGVYAAAMAWAII
PHYGWSFQMGSAYQFHSWRVFVLVCAFPSVFAIGALTTQPESPRFFLENGKHDEAWMVLKQVHDTNMRAKGHPERVFSVTHIKTIHQEDELIEIQSDTGTWYQRW
GVRALSLGGQVWGNFLSCFGPEYRRITLMMMGVWFTMSFSYYGLTVWFPDMIRHLQAVDYASRTKVFPGERVEHVTFNFTLENQIHRGGQYFNDKFIGLRLKSVS
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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 |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | aCGH | ASD | - | - | - | - | 119 | 54 | 173 |
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 |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
Reference | Case Number | Family Number | Mosaic Number | Title |
---|---|---|---|---|
Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
Lim ET, 2017 | - | 5947 | 376 | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
NGS Other Studies Top
Low Scale Gene Studies Top
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