Evidence Details for SLC6A13
Basic Information Top
| Gene Symbol: | SLC6A13 ( GAT-2,GAT2 ) |
|---|---|
| Gene Full Name: | solute carrier family 6 (neurotransmitter transporter, GABA), member 13 |
| Band: | 12p13.33 |
| Quick Links | Entrez ID:6540; OMIM: NA; Uniprot ID:S6A13_HUMAN; ENSEMBL ID: ENSG00000010379; HGNC ID: 11046 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC6A13|6540|nucleotide
ATGGATAGCAGGGTCTCAGGCACAACCAGTAATGGAGAGACAAAACCAGTGTATCCAGTCATGGAAAAGAAGGAGGAAGATGGCACCCTGGAGCGGGGGCACTGG
AACAACAAGATGGAGTTTGTGCTGTCAGTGGCTGGGGAGATCATTGGCTTAGGCAACGTCTGGAGGTTTCCCTATCTCTGCTACAAAAATGGGGGAGAACACTGT
ATGGAGTTCCAGAAGACCAACGGCTCCCTGAATGGTACCTCTGAGAATGCCACCTCTCCTGTCATCGAGTTCTGGGAGCGGCGGGTCTTGAAGATCTCTGATGGG
ATCCAGCACCTGGGGGCCCTGCGCTGGGAGCTGGCTCTGTGCCTCCTGCTGGCCTGGGTCATCTGCTACTTCTGCATCTGGAAGGGGGTGAAGTCCACAGGCAAG
GTGGTGTACTTCACGGCCACATTTCCTTACCTCATGCTGGTGGTCCTGTTAATTCGAGGGGTGACGTTGCCTGGGGCAGCCCAAGGAATTCAGTTTTACCTGTAC
CCAAACCTCACGCGTCTGTGGGATCCCCAGGTGTGGATGGATGCAGGCACCCAGATATTCTTCTCCTTCGCCATCTGTCTTGGGTGCCTGACAGCCCTGGGCAGC
TACAACAAGTACCACAACAACTGCTACAGGGACTGCATCGCCCTCTGCTTCCTCAACAGCGGCACCAGCTTTGTGGCCGGCTTTGCCATCTTCTCCATCCTGGGC
TTCATGTCTCAGGAGCAGGGGGTGCCCATTTCTGAGGTGGCCGAGTCAGGCCCTGGCCTGGCTTTCATCGCTTACCCGCGGGCTGTGGTGATGCTGCCCTTCTCT
CCTCTCTGGGCCTGCTGTTTCTTCTTCATGGTCGTTCTCCTGGGACTGGATAGCCAGTTTGTGTGTGTAGAAAGCCTGGTGACAGCGCTGGTGGACATGTACCCT
CACGTGTTCCGCAAGAAGAACCGGAGGGAAGTCCTCATCCTTGGAGTATCTGTCGTCTCCTTCCTTGTGGGGCTGATCATGCTCACAGAGGGCGGAATGTACGTG
TTCCAGCTCTTTGACTACTATGCGGCCAGTGGCATGTGCCTCCTGTTCGTGGCCATCTTCGAGTCCCTCTGTGTGGCTTGGGTTTACGGAGCCAAGCGCTTCTAC
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ATGGATAGCAGGGTCTCAGGCACAACCAGTAATGGAGAGACAAAACCAGTGTATCCAGTCATGGAAAAGAAGGAGGAAGATGGCACCCTGGAGCGGGGGCACTGG
AACAACAAGATGGAGTTTGTGCTGTCAGTGGCTGGGGAGATCATTGGCTTAGGCAACGTCTGGAGGTTTCCCTATCTCTGCTACAAAAATGGGGGAGAACACTGT
ATGGAGTTCCAGAAGACCAACGGCTCCCTGAATGGTACCTCTGAGAATGCCACCTCTCCTGTCATCGAGTTCTGGGAGCGGCGGGTCTTGAAGATCTCTGATGGG
ATCCAGCACCTGGGGGCCCTGCGCTGGGAGCTGGCTCTGTGCCTCCTGCTGGCCTGGGTCATCTGCTACTTCTGCATCTGGAAGGGGGTGAAGTCCACAGGCAAG
GTGGTGTACTTCACGGCCACATTTCCTTACCTCATGCTGGTGGTCCTGTTAATTCGAGGGGTGACGTTGCCTGGGGCAGCCCAAGGAATTCAGTTTTACCTGTAC
CCAAACCTCACGCGTCTGTGGGATCCCCAGGTGTGGATGGATGCAGGCACCCAGATATTCTTCTCCTTCGCCATCTGTCTTGGGTGCCTGACAGCCCTGGGCAGC
TACAACAAGTACCACAACAACTGCTACAGGGACTGCATCGCCCTCTGCTTCCTCAACAGCGGCACCAGCTTTGTGGCCGGCTTTGCCATCTTCTCCATCCTGGGC
TTCATGTCTCAGGAGCAGGGGGTGCCCATTTCTGAGGTGGCCGAGTCAGGCCCTGGCCTGGCTTTCATCGCTTACCCGCGGGCTGTGGTGATGCTGCCCTTCTCT
CCTCTCTGGGCCTGCTGTTTCTTCTTCATGGTCGTTCTCCTGGGACTGGATAGCCAGTTTGTGTGTGTAGAAAGCCTGGTGACAGCGCTGGTGGACATGTACCCT
CACGTGTTCCGCAAGAAGAACCGGAGGGAAGTCCTCATCCTTGGAGTATCTGTCGTCTCCTTCCTTGTGGGGCTGATCATGCTCACAGAGGGCGGAATGTACGTG
TTCCAGCTCTTTGACTACTATGCGGCCAGTGGCATGTGCCTCCTGTTCGTGGCCATCTTCGAGTCCCTCTGTGTGGCTTGGGTTTACGGAGCCAAGCGCTTCTAC
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>SLC6A13|6540|protein
MDSRVSGTTSNGETKPVYPVMEKKEEDGTLERGHWNNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGEHCMEFQKTNGSLNGTSENATSPVIEFWERRVLKISDG
IQHLGALRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVVLLIRGVTLPGAAQGIQFYLYPNLTRLWDPQVWMDAGTQIFFSFAICLGCLTALGS
YNKYHNNCYRDCIALCFLNSGTSFVAGFAIFSILGFMSQEQGVPISEVAESGPGLAFIAYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTALVDMYP
HVFRKKNRREVLILGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNIEDMIGYRPWPLIKYCWLFLTPAVCTATFLFSL
IKYTPLTYNKKYTYPWWGDALGWLLALSSMVCIPAWSLYRLGTLKGPFRERIRQLMCPAEDLPQRNPAGPSAPATPRTSLLRLTELESHC
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MDSRVSGTTSNGETKPVYPVMEKKEEDGTLERGHWNNKMEFVLSVAGEIIGLGNVWRFPYLCYKNGGEHCMEFQKTNGSLNGTSENATSPVIEFWERRVLKISDG
IQHLGALRWELALCLLLAWVICYFCIWKGVKSTGKVVYFTATFPYLMLVVLLIRGVTLPGAAQGIQFYLYPNLTRLWDPQVWMDAGTQIFFSFAICLGCLTALGS
YNKYHNNCYRDCIALCFLNSGTSFVAGFAIFSILGFMSQEQGVPISEVAESGPGLAFIAYPRAVVMLPFSPLWACCFFFMVVLLGLDSQFVCVESLVTALVDMYP
HVFRKKNRREVLILGVSVVSFLVGLIMLTEGGMYVFQLFDYYAASGMCLLFVAIFESLCVAWVYGAKRFYDNIEDMIGYRPWPLIKYCWLFLTPAVCTATFLFSL
IKYTPLTYNKKYTYPWWGDALGWLLALSSMVCIPAWSLYRLGTLKGPFRERIRQLMCPAEDLPQRNPAGPSAPATPRTSLLRLTELESHC
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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 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 3 (3) | 0 (0) | 0 (0) | 0 (0) | 32 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Silva IM, 2014 | - | aCGH;FISH | | | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS 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.