Evidence Details for SLC35A1
Basic Information Top
| Gene Symbol: | SLC35A1 ( CDG2F,CMPST,CST,FLJ76955,hCST ) |
|---|---|
| Gene Full Name: | solute carrier family 35 (CMP-sialic acid transporter), member A1 |
| Band: | 6q15 |
| Quick Links | Entrez ID:10559; OMIM: 605634; Uniprot ID:S35A1_HUMAN; ENSEMBL ID: ENSG00000164414; HGNC ID: 11021 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC35A1|10559|nucleotide
ATGGCTGCCCCGAGAGACAATGTCACTTTATTATTCAAGTTATACTGCTTGGCAGTGATGACCCTGATGGCTGCAGTCTATACCATAGCTTTAAGATACACAAGG
ACATCAGACAAAGAACTCTACTTTTCAACCACAGCCGTGTGTATCACAGAAGTTATAAAGTTATTGCTAAGTGTGGGAATTTTAGCTAAAGAAACTGGTAGTCTG
GGTAGATTCAAAGCATCTTTAAGAGAAAATGTCTTGGGGAGCCCCAAGGAACTGTTGAAGTTAAGTGTGCCATCGTTAGTGTATGCTGTTCAGAACAACATGGCT
TTCCTAGCTCTTAGCAATCTGGATGCAGCAGTGTACCAGGTGACCTACCAGTTGAAGATTCCGTGTACTGCTTTATGCACTGTTTTAATGTTAAACCGGACACTC
AGCAAATTACAGTGGGTTTCAGTTTTTATGCTGTGTGCTGGAGTTACGCTTGTACAGTGGAAACCAGCCCAAGCTACAAAAGTGGTGGTGGAACAAAATCCATTA
TTAGGGTTTGGCGCTATAGCTATTGCTGTATTGTGCTCAGGATTTGCAGTTCTTGCAAGTGTTGGTGGCCTCTACACTTCTGTTGTGGTTAAGTACACAGACAAC
ATCATGAAAGGCTTTTCTGCAGCAGCGGCCATTGTCCTTTCCACCATTGCTTCAGTAATGCTGTTTGGATTACAGATAACACTCACCTTTGCCCTGGGTACTCTT
CTTGTATGTGTTTCCATATATCTCTATGGATTACCCAGACAAGACACTACATCCATCCAACAAGGAGAAACAGCTTCAAAGGAGAGAGTTATTGGTGTGTGA
Show »
ATGGCTGCCCCGAGAGACAATGTCACTTTATTATTCAAGTTATACTGCTTGGCAGTGATGACCCTGATGGCTGCAGTCTATACCATAGCTTTAAGATACACAAGG
ACATCAGACAAAGAACTCTACTTTTCAACCACAGCCGTGTGTATCACAGAAGTTATAAAGTTATTGCTAAGTGTGGGAATTTTAGCTAAAGAAACTGGTAGTCTG
GGTAGATTCAAAGCATCTTTAAGAGAAAATGTCTTGGGGAGCCCCAAGGAACTGTTGAAGTTAAGTGTGCCATCGTTAGTGTATGCTGTTCAGAACAACATGGCT
TTCCTAGCTCTTAGCAATCTGGATGCAGCAGTGTACCAGGTGACCTACCAGTTGAAGATTCCGTGTACTGCTTTATGCACTGTTTTAATGTTAAACCGGACACTC
AGCAAATTACAGTGGGTTTCAGTTTTTATGCTGTGTGCTGGAGTTACGCTTGTACAGTGGAAACCAGCCCAAGCTACAAAAGTGGTGGTGGAACAAAATCCATTA
TTAGGGTTTGGCGCTATAGCTATTGCTGTATTGTGCTCAGGATTTGCAGTTCTTGCAAGTGTTGGTGGCCTCTACACTTCTGTTGTGGTTAAGTACACAGACAAC
ATCATGAAAGGCTTTTCTGCAGCAGCGGCCATTGTCCTTTCCACCATTGCTTCAGTAATGCTGTTTGGATTACAGATAACACTCACCTTTGCCCTGGGTACTCTT
CTTGTATGTGTTTCCATATATCTCTATGGATTACCCAGACAAGACACTACATCCATCCAACAAGGAGAAACAGCTTCAAAGGAGAGAGTTATTGGTGTGTGA
Show »
>SLC35A1|10559|protein
MAAPRDNVTLLFKLYCLAVMTLMAAVYTIALRYTRTSDKELYFSTTAVCITEVIKLLLSVGILAKETGSLGRFKASLRENVLGSPKELLKLSVPSLVYAVQNNMA
FLALSNLDAAVYQVTYQLKIPCTALCTVLMLNRTLSKLQWVSVFMLCAGVTLVQWKPAQATKVVVEQNPLLGFGAIAIAVLCSGFAVLASVGGLYTSVVVKYTDN
IMKGFSAAAAIVLSTIASVMLFGLQITLTFALGTLLVCVSIYLYGLPRQDTTSIQQGETASKERVIGV
Show »
MAAPRDNVTLLFKLYCLAVMTLMAAVYTIALRYTRTSDKELYFSTTAVCITEVIKLLLSVGILAKETGSLGRFKASLRENVLGSPKELLKLSVPSLVYAVQNNMA
FLALSNLDAAVYQVTYQLKIPCTALCTVLMLNRTLSKLQWVSVFMLCAGVTLVQWKPAQATKVVVEQNPLLGFGAIAIAVLCSGFAVLASVGGLYTSVVVKYTDN
IMKGFSAAAAIVLSTIASVMLFGLQITLTFALGTLLVCVSIYLYGLPRQDTTSIQQGETASKERVIGV
Show »
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) | 1 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 14 (4) |
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 | ||||||
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
| Quintela I, 2015 | - | - | - | - | autistic disorder | - | - | - | - | 1 | - | 1 |
Linkage Studies Top