Evidence Details for SLC13A1
Basic Information Top
| Gene Symbol: | SLC13A1 ( NAS1,NaSi-1 ) |
|---|---|
| Gene Full Name: | solute carrier family 13 (sodium/sulfate symporters), member 1 |
| Band: | 7q31.32 |
| Quick Links | Entrez ID:6561; OMIM: 606193; Uniprot ID:S13A1_HUMAN; ENSEMBL ID: ENSG00000081800; HGNC ID: 10916 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC13A1|6561|nucleotide
ATGAAATTCTTCAGTTACATTCTGGTTTATCGCCGATTTCTCTTCGTGGTTTTCACTGTGTTGGTTTTACTACCTCTGCCCATCGTCCTCCACACCAAGGAAGCA
GAATGTGCCTACACACTCTTTGTGGTCGCCACATTTTGGCTCACAGAAGCATTGCCTCTGTCGGTAACAGCTTTGCTACCTAGTTTAATGTTACCCATGTTTGGG
ATCATGCCTTCTAAGAAGGTGGCATCTGCTTATTTCAAGGATTTTCACTTACTGCTAATTGGAGTTATCTGTTTAGCAACATCCATAGAAAAATGGAATTTGCAC
AAGAGAATTGCTCTGAAAATGGTGATGATGGTTGGTGTAAATCCTGCATGGCTGACGCTGGGGTTCATGAGCAGCACTGCCTTTTTGTCTATGTGGCTCAGCAAC
ACCTCGACGGCTGCCATGGTGATGCCCATTGCGGAGGCTGTAGTGCAGCAGATCATCAATGCAGAAGCAGAGGTCGAGGCCACTCAGATGACTTACTTCAACGGA
TCAACCAACCACGGACTAGAAATTGATGAAAGTGTTAATGGACATGAAATAAATGAGAGGAAAGAGAAAACAAAACCAGTTCCAGGATACAATAATGATACAGGG
AAAATTTCAAGCAAGGTGGAGTTGGAAAAGAACTCAGGCATGAGAACCAAATATCGAACAAAGAAGGGCCACGTGACACGTAAACTTACGTGTTTGTGCATTGCC
TACTCTTCTACCATTGGTGGACTGACAACAATCACTGGTACCTCCACCAACTTGATCTTTGCAGAGTATTTCAATACACGCTATCCTGACTGTCGTTGCCTCAAC
TTTGGATCATGGTTTACGTTTTCCTTCCCAGCTGCCCTTATCATTCTACTCTTATCCTGGATCTGGCTTCAGTGGCTTTTCCTAGGATTCAATTTTAAGGAGATG
TTCAAATGTGGCAAAACCAAAACAGTCCAACAAAAAGCTTGTGCTGAGGTGATTAAGCAAGAATACCAAAAGCTTGGGCCAATAAGGTATCAAGAAATTGTGACC
TTGGTCCTCTTCATTATAATGGCTCTGCTATGGTTTAGTCGAGACCCCGGATTTGTTCCTGGTTGGTCTGCACTTTTTTCAGAGTACCCTGGTTTTGCTACAGAT
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ATGAAATTCTTCAGTTACATTCTGGTTTATCGCCGATTTCTCTTCGTGGTTTTCACTGTGTTGGTTTTACTACCTCTGCCCATCGTCCTCCACACCAAGGAAGCA
GAATGTGCCTACACACTCTTTGTGGTCGCCACATTTTGGCTCACAGAAGCATTGCCTCTGTCGGTAACAGCTTTGCTACCTAGTTTAATGTTACCCATGTTTGGG
ATCATGCCTTCTAAGAAGGTGGCATCTGCTTATTTCAAGGATTTTCACTTACTGCTAATTGGAGTTATCTGTTTAGCAACATCCATAGAAAAATGGAATTTGCAC
AAGAGAATTGCTCTGAAAATGGTGATGATGGTTGGTGTAAATCCTGCATGGCTGACGCTGGGGTTCATGAGCAGCACTGCCTTTTTGTCTATGTGGCTCAGCAAC
ACCTCGACGGCTGCCATGGTGATGCCCATTGCGGAGGCTGTAGTGCAGCAGATCATCAATGCAGAAGCAGAGGTCGAGGCCACTCAGATGACTTACTTCAACGGA
TCAACCAACCACGGACTAGAAATTGATGAAAGTGTTAATGGACATGAAATAAATGAGAGGAAAGAGAAAACAAAACCAGTTCCAGGATACAATAATGATACAGGG
AAAATTTCAAGCAAGGTGGAGTTGGAAAAGAACTCAGGCATGAGAACCAAATATCGAACAAAGAAGGGCCACGTGACACGTAAACTTACGTGTTTGTGCATTGCC
TACTCTTCTACCATTGGTGGACTGACAACAATCACTGGTACCTCCACCAACTTGATCTTTGCAGAGTATTTCAATACACGCTATCCTGACTGTCGTTGCCTCAAC
TTTGGATCATGGTTTACGTTTTCCTTCCCAGCTGCCCTTATCATTCTACTCTTATCCTGGATCTGGCTTCAGTGGCTTTTCCTAGGATTCAATTTTAAGGAGATG
TTCAAATGTGGCAAAACCAAAACAGTCCAACAAAAAGCTTGTGCTGAGGTGATTAAGCAAGAATACCAAAAGCTTGGGCCAATAAGGTATCAAGAAATTGTGACC
TTGGTCCTCTTCATTATAATGGCTCTGCTATGGTTTAGTCGAGACCCCGGATTTGTTCCTGGTTGGTCTGCACTTTTTTCAGAGTACCCTGGTTTTGCTACAGAT
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>SLC13A1|6561|protein
MKFFSYILVYRRFLFVVFTVLVLLPLPIVLHTKEAECAYTLFVVATFWLTEALPLSVTALLPSLMLPMFGIMPSKKVASAYFKDFHLLLIGVICLATSIEKWNLH
KRIALKMVMMVGVNPAWLTLGFMSSTAFLSMWLSNTSTAAMVMPIAEAVVQQIINAEAEVEATQMTYFNGSTNHGLEIDESVNGHEINERKEKTKPVPGYNNDTG
KISSKVELEKNSGMRTKYRTKKGHVTRKLTCLCIAYSSTIGGLTTITGTSTNLIFAEYFNTRYPDCRCLNFGSWFTFSFPAALIILLLSWIWLQWLFLGFNFKEM
FKCGKTKTVQQKACAEVIKQEYQKLGPIRYQEIVTLVLFIIMALLWFSRDPGFVPGWSALFSEYPGFATDSTVALLIGLLFFLIPAKTLTKTTPTGEIVAFDYSP
LITWKEFQSFMPWDIAILVGGGFALADGCEESGLSKWIGNKLSPLGSLPAWLIILISSLMVTSLTEVASNPATITLFLPILSPLAEAIHVNPLYILIPSTLCTSF
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MKFFSYILVYRRFLFVVFTVLVLLPLPIVLHTKEAECAYTLFVVATFWLTEALPLSVTALLPSLMLPMFGIMPSKKVASAYFKDFHLLLIGVICLATSIEKWNLH
KRIALKMVMMVGVNPAWLTLGFMSSTAFLSMWLSNTSTAAMVMPIAEAVVQQIINAEAEVEATQMTYFNGSTNHGLEIDESVNGHEINERKEKTKPVPGYNNDTG
KISSKVELEKNSGMRTKYRTKKGHVTRKLTCLCIAYSSTIGGLTTITGTSTNLIFAEYFNTRYPDCRCLNFGSWFTFSFPAALIILLLSWIWLQWLFLGFNFKEM
FKCGKTKTVQQKACAEVIKQEYQKLGPIRYQEIVTLVLFIIMALLWFSRDPGFVPGWSALFSEYPGFATDSTVALLIGLLFFLIPAKTLTKTTPTGEIVAFDYSP
LITWKEFQSFMPWDIAILVGGGFALADGCEESGLSKWIGNKLSPLGSLPAWLIILISSLMVTSLTEVASNPATITLFLPILSPLAEAIHVNPLYILIPSTLCTSF
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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 | 2 (4) | 0 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 10 (9) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Maestrini, 2009_2 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 | 127 (-) |  | | ASD | - - |
- - | ||
| ASIAN | |||||||||||
| Cho, 2011_1 | - | FUJIFLM DNA Whole Blood Kit S and QuickGene 810 | 42 | 42 (-) | | | ASD | 77.7±22.6 months (49-149) months |
46.2±12.2 (31-65) | ||
Case Control Based Association Studies: 2
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | ||||||||||||
| Maestrini, 2009_5 | Discovery | GoldenGate assay (Illumina, San Diego, CA, USA) | 127 (20.47%) | | | ASD | - - |
- | 188 (21.28%) |
- - | ||
| Maestrini, 2009_6 | Replication | the Mass Extend iPLEX Gold (Sequenom, San Diego, CA, USA) and TaqMan platforms | 294 (19.73%) | | | ASD | - - |
- | 180 (20.00%) |
- - | ||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Gregory, 2009 | USA | aCGH | |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Okamoto, 2011 | Japan | - | | | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top