Evidence Details for SLC18A1
Basic Information Top
| Gene Symbol: | SLC18A1 ( CGAT,VAT1,VMAT1 ) |
|---|---|
| Gene Full Name: | solute carrier family 18 (vesicular monoamine), member 1 |
| Band: | 8p21.3 |
| Quick Links | Entrez ID:6570; OMIM: 193002; Uniprot ID:VMAT1_HUMAN; ENSEMBL ID: ENSG00000036565; HGNC ID: 10934 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC18A1|6570|nucleotide
ATGCTCCGGACCATTCTGGATGCTCCCCAGCGGTTGCTGAAGGAGGGGAGAGCGTCCCGGCAGCTGGTGCTGGTGGTGGTATTCGTCGCTTTGCTCCTGGACAAC
ATGCTGTTTACTGTGGTGGTGCCAATTGTGCCCACCTTCCTATATGACATGGAGTTCAAAGAAGTCAACTCTTCTCTGCACCTCGGCCATGCCGGAAGTTCCCCA
CATGCCCTCGCCTCTCCTGCCTTTTCCACCATCTTCTCCTTCTTCAACAACAACACCGTGGCTGTTGAAGAAAGCGTACCTAGTGGAATAGCATGGATGAATGAC
ACTGCCAGCACCATCCCACCTCCAGCCACTGAAGCCATCTCAGCTCATAAAAACAACTGCTTGCAAGGCACAGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGG
GTTCTGTTTGCTTCAAAGGCTGTGATGCAACTTCTGGTCAACCCATTCGTGGGCCCTCTCACCAACAGGATTGGATATCATATCCCCATGTTTGCTGGCTTTGTT
ATCATGTTTCTCTCCACAGTTATGTTTGCTTTTTCTGGGACCTATACTCTACTCTTTGTGGCCCGAACCCTTCAAGGCATTGGATCTTCATTTTCATCTGTTGCA
GGTCTTGGAATGCTGGCCAGTGTCTACACTGATGACCATGAGAGAGGACGAGCCATGGGAACTGCTCTGGGGGGCCTGGCCTTGGGGTTGCTGGTGGGAGCTCCC
TTTGGAAGTGTAATGTACGAGTTTGTTGGGAAGTCTGCACCCTTCCTCATCCTGGCCTTCCTGGCACTACTGGATGGAGCACTCCAGCTTTGCATCCTACAGCCT
TCCAAAGTCTCTCCTGAGAGTGCCAAGGGGACTCCCCTCTTTATGCTTCTCAAAGACCCTTACATCCTGGTGGCTGCAGGGTCCATCTGCTTTGCCAACATGGGG
GTGGCCATCCTGGAGCCCACACTGCCCATCTGGATGATGCAGACCATGTGCTCCCCCAAGTGGCAGCTGGGTCTAGCTTTCTTGCCTGCCAGTGTGTCCTACCTC
ATTGGCACCAACCTCTTTGGTGTGTTGGCCAACAAGATGGGTCGGTGGCTGTGTTCCCTAATCGGGATGCTGGTAGTAGGTACCAGCTTGCTCTGTGTTCCTCTG
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ATGCTCCGGACCATTCTGGATGCTCCCCAGCGGTTGCTGAAGGAGGGGAGAGCGTCCCGGCAGCTGGTGCTGGTGGTGGTATTCGTCGCTTTGCTCCTGGACAAC
ATGCTGTTTACTGTGGTGGTGCCAATTGTGCCCACCTTCCTATATGACATGGAGTTCAAAGAAGTCAACTCTTCTCTGCACCTCGGCCATGCCGGAAGTTCCCCA
CATGCCCTCGCCTCTCCTGCCTTTTCCACCATCTTCTCCTTCTTCAACAACAACACCGTGGCTGTTGAAGAAAGCGTACCTAGTGGAATAGCATGGATGAATGAC
ACTGCCAGCACCATCCCACCTCCAGCCACTGAAGCCATCTCAGCTCATAAAAACAACTGCTTGCAAGGCACAGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGG
GTTCTGTTTGCTTCAAAGGCTGTGATGCAACTTCTGGTCAACCCATTCGTGGGCCCTCTCACCAACAGGATTGGATATCATATCCCCATGTTTGCTGGCTTTGTT
ATCATGTTTCTCTCCACAGTTATGTTTGCTTTTTCTGGGACCTATACTCTACTCTTTGTGGCCCGAACCCTTCAAGGCATTGGATCTTCATTTTCATCTGTTGCA
GGTCTTGGAATGCTGGCCAGTGTCTACACTGATGACCATGAGAGAGGACGAGCCATGGGAACTGCTCTGGGGGGCCTGGCCTTGGGGTTGCTGGTGGGAGCTCCC
TTTGGAAGTGTAATGTACGAGTTTGTTGGGAAGTCTGCACCCTTCCTCATCCTGGCCTTCCTGGCACTACTGGATGGAGCACTCCAGCTTTGCATCCTACAGCCT
TCCAAAGTCTCTCCTGAGAGTGCCAAGGGGACTCCCCTCTTTATGCTTCTCAAAGACCCTTACATCCTGGTGGCTGCAGGGTCCATCTGCTTTGCCAACATGGGG
GTGGCCATCCTGGAGCCCACACTGCCCATCTGGATGATGCAGACCATGTGCTCCCCCAAGTGGCAGCTGGGTCTAGCTTTCTTGCCTGCCAGTGTGTCCTACCTC
ATTGGCACCAACCTCTTTGGTGTGTTGGCCAACAAGATGGGTCGGTGGCTGTGTTCCCTAATCGGGATGCTGGTAGTAGGTACCAGCTTGCTCTGTGTTCCTCTG
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>SLC18A1|6570|protein
MLRTILDAPQRLLKEGRASRQLVLVVVFVALLLDNMLFTVVVPIVPTFLYDMEFKEVNSSLHLGHAGSSPHALASPAFSTIFSFFNNNTVAVEESVPSGIAWMND
TASTIPPPATEAISAHKNNCLQGTGFLEEEITRVGVLFASKAVMQLLVNPFVGPLTNRIGYHIPMFAGFVIMFLSTVMFAFSGTYTLLFVARTLQGIGSSFSSVA
GLGMLASVYTDDHERGRAMGTALGGLALGLLVGAPFGSVMYEFVGKSAPFLILAFLALLDGALQLCILQPSKVSPESAKGTPLFMLLKDPYILVAAGSICFANMG
VAILEPTLPIWMMQTMCSPKWQLGLAFLPASVSYLIGTNLFGVLANKMGRWLCSLIGMLVVGTSLLCVPLAHNIFGLIGPNAGLGLAIGMVDSSMMPIMGHLVDL
RHTSVYGSVYAIADVAFCMGFAIGPSTGGAIVKAIGFPWLMVITGVINIVYAPLCYYLRSPPAKEEKLAILSQDCPMETRMYATQKPTKEFPLGEDSDEEPDHEE
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MLRTILDAPQRLLKEGRASRQLVLVVVFVALLLDNMLFTVVVPIVPTFLYDMEFKEVNSSLHLGHAGSSPHALASPAFSTIFSFFNNNTVAVEESVPSGIAWMND
TASTIPPPATEAISAHKNNCLQGTGFLEEEITRVGVLFASKAVMQLLVNPFVGPLTNRIGYHIPMFAGFVIMFLSTVMFAFSGTYTLLFVARTLQGIGSSFSSVA
GLGMLASVYTDDHERGRAMGTALGGLALGLLVGAPFGSVMYEFVGKSAPFLILAFLALLDGALQLCILQPSKVSPESAKGTPLFMLLKDPYILVAAGSICFANMG
VAILEPTLPIWMMQTMCSPKWQLGLAFLPASVSYLIGTNLFGVLANKMGRWLCSLIGMLVVGTSLLCVPLAHNIFGLIGPNAGLGLAIGMVDSSMMPIMGHLVDL
RHTSVYGSVYAIADVAFCMGFAIGPSTGGAIVKAIGFPWLMVITGVINIVYAPLCYYLRSPPAKEEKLAILSQDCPMETRMYATQKPTKEFPLGEDSDEEPDHEE
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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 (6) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (7) |
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 | ||||||
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Bucan, 2009 | USA | SNP microarray | |  | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Gregory, 2009 | USA | aCGH | | | ASD | - | - | - | - | 119 | 54 | 173 |
| Ozgen, 2009 | - | aCGH, SNP microarray | | | ASD | 55 | - | - | - | - | - | - |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top