Evidence Details for SYT8
Basic Information Top
Gene Symbol: | SYT8 ( DKFZp434K0322 ) |
---|---|
Gene Full Name: | synaptotagmin VIII |
Band: | 11p15.5 |
Quick Links | Entrez ID:90019; OMIM: 607719; Uniprot ID:SYT8_HUMAN; ENSEMBL ID: ENSG00000149043; HGNC ID: 19264 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SYT8|90019|nucleotide
ATGCTCCACCTGCATGGCTGGCAAACCATGCAGGGTAGAAAGATGGGGCACCCACCAGTCTCTCCCAGTGCCCCGGCCCCAGCTGGCACCACAGCTATACCTGGG
CTTATTCCAGACCTTGTCGCCGGGACCCCCTGGCCCCGCTGGGCTCTCATTGCCGGCGCCCTTGCCGCGGGCGTCCTCCTCGTCTCCTGCCTCCTCTGTGCTGCC
TGCTGCTGCTGCCGCCGCCACAGGAAGAAGCCCAGGGACAAGGAGTCCGTGGGTCTGGGCAGTGCCCGCGGCACCACCACCACCCACCTGGTGCAACCTGATGTG
GATGGCCTGGAGTCCAGCCCGGGGGATGCTCAGCAATGGGGGCGCCTGCAGCTCTCCCTGGAGTTCGACTTTGGAAGCCAGGAGATCAGGGTGGGCCTGAGGCAG
GCAGCCGACCTGAGGCCTGGGGGCACCGTGGACCCCTATGCCCGGGTCAGCGTCTCCACCCAGGCCGGACACAGACATGAGACAAAAGTGCACCGAGGCACGCTC
TGCCCCGTGTTTGACGAGACCTGCTGCTTCCACATCCCGCAGGCGGAGCTGCCAGGGGCCACCCTGCAGGTGCAGCTTTTCAACTTCAAGCGCTTCTCGGGGCAT
GAGCCCCTGGGTGAGCTCCGTCTGCCACTGGGCACCGTGGATCTGCAGCATGTTCTGGAGCACTGGTACCTGCTGGGCCCGCCGGCTGCCACTCAGCCCGAGCAG
GTCGGGGAGCTGTGCTTCTCTCTCCGGTACGTGCCCAGCTCAGGCCGGCTGACCGTGGTGGTGCTGGAGGCTCGAGGCCTGCGTCCAGGACTTGCAGAGCCCTAC
GTGAAGGTCCAGCTCATGCTGAACCAGAGGAAGTGGAAGAAGAGAAAGACAGCCACCAAAAAGGGCACGGCGGCCCCCTACTTCAATGAGGCCTTCACCTTCCTG
GTGCCCTTCAGCCAGGTCCAGAATGTGGACCTGGTGCTGGCTGTCTGGGACCGCAGCCTGCCGCTCCGAACTGAGCCCGTAGGCAAGGTGCACCTGGGTGCCCGG
GCCTCGGGGCAGCCCCTGCAGCACTGGGCAGACATGCTGGCCCACGCCCGGCGGCCCATTGCCCAGCGGCACCCCCTGCGGCCAGCCAGGGAGGTGGACCGCATG
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ATGCTCCACCTGCATGGCTGGCAAACCATGCAGGGTAGAAAGATGGGGCACCCACCAGTCTCTCCCAGTGCCCCGGCCCCAGCTGGCACCACAGCTATACCTGGG
CTTATTCCAGACCTTGTCGCCGGGACCCCCTGGCCCCGCTGGGCTCTCATTGCCGGCGCCCTTGCCGCGGGCGTCCTCCTCGTCTCCTGCCTCCTCTGTGCTGCC
TGCTGCTGCTGCCGCCGCCACAGGAAGAAGCCCAGGGACAAGGAGTCCGTGGGTCTGGGCAGTGCCCGCGGCACCACCACCACCCACCTGGTGCAACCTGATGTG
GATGGCCTGGAGTCCAGCCCGGGGGATGCTCAGCAATGGGGGCGCCTGCAGCTCTCCCTGGAGTTCGACTTTGGAAGCCAGGAGATCAGGGTGGGCCTGAGGCAG
GCAGCCGACCTGAGGCCTGGGGGCACCGTGGACCCCTATGCCCGGGTCAGCGTCTCCACCCAGGCCGGACACAGACATGAGACAAAAGTGCACCGAGGCACGCTC
TGCCCCGTGTTTGACGAGACCTGCTGCTTCCACATCCCGCAGGCGGAGCTGCCAGGGGCCACCCTGCAGGTGCAGCTTTTCAACTTCAAGCGCTTCTCGGGGCAT
GAGCCCCTGGGTGAGCTCCGTCTGCCACTGGGCACCGTGGATCTGCAGCATGTTCTGGAGCACTGGTACCTGCTGGGCCCGCCGGCTGCCACTCAGCCCGAGCAG
GTCGGGGAGCTGTGCTTCTCTCTCCGGTACGTGCCCAGCTCAGGCCGGCTGACCGTGGTGGTGCTGGAGGCTCGAGGCCTGCGTCCAGGACTTGCAGAGCCCTAC
GTGAAGGTCCAGCTCATGCTGAACCAGAGGAAGTGGAAGAAGAGAAAGACAGCCACCAAAAAGGGCACGGCGGCCCCCTACTTCAATGAGGCCTTCACCTTCCTG
GTGCCCTTCAGCCAGGTCCAGAATGTGGACCTGGTGCTGGCTGTCTGGGACCGCAGCCTGCCGCTCCGAACTGAGCCCGTAGGCAAGGTGCACCTGGGTGCCCGG
GCCTCGGGGCAGCCCCTGCAGCACTGGGCAGACATGCTGGCCCACGCCCGGCGGCCCATTGCCCAGCGGCACCCCCTGCGGCCAGCCAGGGAGGTGGACCGCATG
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>SYT8|90019|protein
MLHLHGWQTMQGRKMGHPPVSPSAPAPAGTTAIPGLIPDLVAGTPWPRWALIAGALAAGVLLVSCLLCAACCCCRRHRKKPRDKESVGLGSARGTTTTHLVQPDV
DGLESSPGDAQQWGRLQLSLEFDFGSQEIRVGLRQAADLRPGGTVDPYARVSVSTQAGHRHETKVHRGTLCPVFDETCCFHIPQAELPGATLQVQLFNFKRFSGH
EPLGELRLPLGTVDLQHVLEHWYLLGPPAATQPEQVGELCFSLRYVPSSGRLTVVVLEARGLRPGLAEPYVKVQLMLNQRKWKKRKTATKKGTAAPYFNEAFTFL
VPFSQVQNVDLVLAVWDRSLPLRTEPVGKVHLGARASGQPLQHWADMLAHARRPIAQRHPLRPAREVDRMLALQPRLRLRLPLPHS
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MLHLHGWQTMQGRKMGHPPVSPSAPAPAGTTAIPGLIPDLVAGTPWPRWALIAGALAAGVLLVSCLLCAACCCCRRHRKKPRDKESVGLGSARGTTTTHLVQPDV
DGLESSPGDAQQWGRLQLSLEFDFGSQEIRVGLRQAADLRPGGTVDPYARVSVSTQAGHRHETKVHRGTLCPVFDETCCFHIPQAELPGATLQVQLFNFKRFSGH
EPLGELRLPLGTVDLQHVLEHWYLLGPPAATQPEQVGELCFSLRYVPSSGRLTVVVLEARGLRPGLAEPYVKVQLMLNQRKWKKRKTATKKGTAAPYFNEAFTFL
VPFSQVQNVDLVLAVWDRSLPLRTEPVGKVHLGARASGQPLQHWADMLAHARRPIAQRHPLRPAREVDRMLALQPRLRLRLPLPHS
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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) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
NGS Other Studies Top
Low Scale Gene Studies Top
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