Evidence Details for SYT1
Basic Information Top
| Gene Symbol: | SYT1 ( DKFZp781D2042,P65,SVP65,SYT ) |
|---|---|
| Gene Full Name: | synaptotagmin I |
| Band: | 12q21.2 |
| Quick Links | Entrez ID:6857; OMIM: 185605; Uniprot ID:SYT1_HUMAN; ENSEMBL ID: ENSG00000067715; HGNC ID: 11509 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SYT1|6857|nucleotide
ATGGTGAGCGAGAGTCACCATGAGGCCCTGGCAGCCCCGCCTGTCACCACTGTCGCGACTGTTCTGCCAAGCAACGCCACAGAGCCAGCCAGTCCTGGAGAAGGA
AAGGAAGATGCATTTTCTAAGCTGAAGGAGAAGTTTATGAATGAGTTGCATAAAATTCCATTGCCACCGTGGGCCTTAATTGCAATAGCCATAGTCGCAGTCCTT
TTAGTCCTGACCTGCTGCTTTTGTATCTGTAAGAAATGTTTGTTCAAAAAGAAAAACAAGAAGAAGGGAAAGGAAAAAGGAGGGAAGAATGCCATTAACATGAAA
GATGTAAAAGACTTAGGGAAGACGATGAAAGATCAGGCCCTCAAGGATGATGATGCTGAAACTGGATTGACAGATGGAGAAGAAAAAGAAGAACCCAAAGAAGAG
GAGAAACTGGGAAAACTTCAGTATTCACTGGATTATGATTTCCAAAATAACCAGCTGCTGGTAGGGATCATTCAGGCTGCCGAACTGCCCGCCTTGGACATGGGG
GGCACATCTGATCCTTACGTGAAAGTGTTTCTGCTACCTGATAAGAAGAAGAAATTTGAGACAAAAGTCCACCGAAAAACCCTTAATCCTGTCTTCAATGAGCAA
TTTACTTTCAAGGTACCATACTCGGAATTGGGTGGCAAAACCCTAGTGATGGCTGTATATGATTTTGATCGTTTCTCTAAGCATGACATCATTGGAGAATTTAAA
GTCCCTATGAACACAGTGGATTTTGGCCATGTAACTGAGGAATGGCGTGACCTGCAAAGTGCTGAGAAGGAAGAGCAAGAGAAATTGGGTGATATCTGCTTCTCC
CTTCGCTACGTACCTACTGCTGGTAAGCTGACTGTTGTCATTCTGGAGGCAAAGAACCTGAAGAAGATGGATGTGGGTGGCTTATCCGATCCTTATGTGAAGATT
CATCTGATGCAGAATGGTAAGAGGCTGAAGAAGAAAAAGACAACAATTAAAAAGAACACACTTAACCCCTACTACAATGAGTCATTCAGCTTTGAAGTACCTTTT
GAACAAATCCAGAAAGTGCAGGTGGTGGTAACTGTTTTGGACTATGACAAGATTGGCAAGAACGATGCCATCGGCAAAGTCTTTGTGGGCTACAACAGCACCGGC
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ATGGTGAGCGAGAGTCACCATGAGGCCCTGGCAGCCCCGCCTGTCACCACTGTCGCGACTGTTCTGCCAAGCAACGCCACAGAGCCAGCCAGTCCTGGAGAAGGA
AAGGAAGATGCATTTTCTAAGCTGAAGGAGAAGTTTATGAATGAGTTGCATAAAATTCCATTGCCACCGTGGGCCTTAATTGCAATAGCCATAGTCGCAGTCCTT
TTAGTCCTGACCTGCTGCTTTTGTATCTGTAAGAAATGTTTGTTCAAAAAGAAAAACAAGAAGAAGGGAAAGGAAAAAGGAGGGAAGAATGCCATTAACATGAAA
GATGTAAAAGACTTAGGGAAGACGATGAAAGATCAGGCCCTCAAGGATGATGATGCTGAAACTGGATTGACAGATGGAGAAGAAAAAGAAGAACCCAAAGAAGAG
GAGAAACTGGGAAAACTTCAGTATTCACTGGATTATGATTTCCAAAATAACCAGCTGCTGGTAGGGATCATTCAGGCTGCCGAACTGCCCGCCTTGGACATGGGG
GGCACATCTGATCCTTACGTGAAAGTGTTTCTGCTACCTGATAAGAAGAAGAAATTTGAGACAAAAGTCCACCGAAAAACCCTTAATCCTGTCTTCAATGAGCAA
TTTACTTTCAAGGTACCATACTCGGAATTGGGTGGCAAAACCCTAGTGATGGCTGTATATGATTTTGATCGTTTCTCTAAGCATGACATCATTGGAGAATTTAAA
GTCCCTATGAACACAGTGGATTTTGGCCATGTAACTGAGGAATGGCGTGACCTGCAAAGTGCTGAGAAGGAAGAGCAAGAGAAATTGGGTGATATCTGCTTCTCC
CTTCGCTACGTACCTACTGCTGGTAAGCTGACTGTTGTCATTCTGGAGGCAAAGAACCTGAAGAAGATGGATGTGGGTGGCTTATCCGATCCTTATGTGAAGATT
CATCTGATGCAGAATGGTAAGAGGCTGAAGAAGAAAAAGACAACAATTAAAAAGAACACACTTAACCCCTACTACAATGAGTCATTCAGCTTTGAAGTACCTTTT
GAACAAATCCAGAAAGTGCAGGTGGTGGTAACTGTTTTGGACTATGACAAGATTGGCAAGAACGATGCCATCGGCAAAGTCTTTGTGGGCTACAACAGCACCGGC
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>SYT1|6857|protein
MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCICKKCLFKKKNKKKGKEKGGKNAINMK
DVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQ
FTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKMDVGGLSDPYVKI
HLMQNGKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIAQWHTLQVEEEVDAMLAV
KK
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MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVLLVLTCCFCICKKCLFKKKNKKKGKEKGGKNAINMK
DVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQ
FTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNLKKMDVGGLSDPYVKI
HLMQNGKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIAQWHTLQVEEEVDAMLAV
KK
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Evidence summary TopClick 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) | 0 (0) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 13 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 0
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | ||||||||||||
Proteomics Studies:1
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| Broek JA, 2014_1 | Unknown | brain | selected reaction monitoring mass spectrometry | 16 (18.75%) | |  | ASD | 18 (27.78%) |
|
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Doan RN, 2016 | - | - | - | - | ASD | - | - | - | - | - |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.