Evidence Details for SLC25A1
Basic Information Top
| Gene Symbol: | SLC25A1 ( CTP,SLC20A3 ) |
|---|---|
| Gene Full Name: | solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 |
| Band: | 22q11.21 |
| Quick Links | Entrez ID:6576; OMIM: 190315; Uniprot ID:TXTP_HUMAN; ENSEMBL ID: ENSG00000100075; HGNC ID: 10979 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC25A1|6576|nucleotide
ATGCCCGCGCCCCGCGCCCCGCGCGCTCTGGCGGCCGCCGCGCCCGCGTCCGGGAAGGCCAAGCTGACGCACCCGGGGAAGGCGATCCTGGCAGGCGGCCTGGCG
GGTGGCATCGAGATCTGCATCACCTTCCCCACCGAGTACGTGAAGACGCAGCTGCAGCTGGACGAGCGCTCGCACCCGCCGCGGTACCGGGGCATCGGGGACTGC
GTGCGGCAGACGGTTCGCAGCCATGGCGTCCTGGGCCTGTACCGCGGCCTTAGCTCCCTGCTCTACGGTTCCATCCCCAAGGCGGCCGTCAGGTTTGGAATGTTC
GAGTTCCTCAGCAACCACATGCGGGATGCCCAGGGACGGCTGGACAGCACGCGTGGGCTGCTGTGCGGCCTGGGCGCTGGCGTGGCCGAGGCCGTGGTGGTCGTG
TGCCCCATGGAGACCATCAAGGTGAAGTTCATCCACGACCAGACCTCCCCAAACCCCAAGTACAGAGGATTCTTCCACGGGGTTAGGGAGATTGTGCGGGAACAA
GGGCTGAAGGGGACGTACCAGGGCCTCACAGCCACTGTCCTGAAGCAGGGCTCGAACCAGGCCATCCGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCGA
GGGGACAACCCCAACAAGCCCATGAACCCTCTGATCACTGGGGTCTTCGGAGCTATTGCAGGCGCAGCCAGTGTCTTTGGAAACACTCCTCTGGATGTGATTAAG
ACCCGGATGCAGGGCCTGGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGCATTCTACAAGGGCACTGTC
CCCCGCCTGGGCCGGGTCTGCCTGGATGTGGCCATAGTGTTTGTCATCTATGATGAAGTGGTGAAGCTGCTCAACAAAGTGTGGAAGACGGACTAA
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ATGCCCGCGCCCCGCGCCCCGCGCGCTCTGGCGGCCGCCGCGCCCGCGTCCGGGAAGGCCAAGCTGACGCACCCGGGGAAGGCGATCCTGGCAGGCGGCCTGGCG
GGTGGCATCGAGATCTGCATCACCTTCCCCACCGAGTACGTGAAGACGCAGCTGCAGCTGGACGAGCGCTCGCACCCGCCGCGGTACCGGGGCATCGGGGACTGC
GTGCGGCAGACGGTTCGCAGCCATGGCGTCCTGGGCCTGTACCGCGGCCTTAGCTCCCTGCTCTACGGTTCCATCCCCAAGGCGGCCGTCAGGTTTGGAATGTTC
GAGTTCCTCAGCAACCACATGCGGGATGCCCAGGGACGGCTGGACAGCACGCGTGGGCTGCTGTGCGGCCTGGGCGCTGGCGTGGCCGAGGCCGTGGTGGTCGTG
TGCCCCATGGAGACCATCAAGGTGAAGTTCATCCACGACCAGACCTCCCCAAACCCCAAGTACAGAGGATTCTTCCACGGGGTTAGGGAGATTGTGCGGGAACAA
GGGCTGAAGGGGACGTACCAGGGCCTCACAGCCACTGTCCTGAAGCAGGGCTCGAACCAGGCCATCCGCTTCTTCGTCATGACCTCCCTGCGCAACTGGTACCGA
GGGGACAACCCCAACAAGCCCATGAACCCTCTGATCACTGGGGTCTTCGGAGCTATTGCAGGCGCAGCCAGTGTCTTTGGAAACACTCCTCTGGATGTGATTAAG
ACCCGGATGCAGGGCCTGGAGGCGCACAAATACCGGAACACGTGGGACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGCATTCTACAAGGGCACTGTC
CCCCGCCTGGGCCGGGTCTGCCTGGATGTGGCCATAGTGTTTGTCATCTATGATGAAGTGGTGAAGCTGCTCAACAAAGTGTGGAAGACGGACTAA
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>SLC25A1|6576|protein
MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQTVRSHGVLGLYRGLSSLLYGSIPKAAVRFGMF
EFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPKYRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYR
GDNPNKPMNPLITGVFGAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD
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MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQTVRSHGVLGLYRGLSSLLYGSIPKAAVRFGMF
EFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPKYRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYR
GDNPNKPMNPLITGVFGAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD
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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) | 2 (11) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (12) |
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 | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Christian, 2008 | USA | aCGH | | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen | | | PDD | 99 | - | 99 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top 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.