Evidence Details for SLC19A1
Basic Information Top
| Gene Symbol: | SLC19A1 ( CHMD,FOLT,IFC1,REFC,RFC1 ) |
|---|---|
| Gene Full Name: | solute carrier family 19 (folate transporter), member 1 |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:6573; OMIM: 600424; Uniprot ID:S19A1_HUMAN; ENSEMBL ID: ENSG00000173638; HGNC ID: 10937 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SLC19A1|6573|nucleotide
ATGGTGCCCTCCAGCCCAGCGGTGGAGAAGCAGGTGCCCGTGGAACCTGGGCCTGACCCCGAGCTCCGGTCCTGGCGGCACCTCGTGTGCTACCTTTGCTTCTAC
GGCTTCATGGCGCAGATACGGCCAGGGGAGAGCTTCATCACCCCCTACCTCCTGGGGCCCGACAAGAACTTCACGCGGGAGCAGGTCACGAACGAGATCACGCCG
GTGCTGTCGTACTCCTACCTGGCCGTGCTGGTGCCCGTGTTCCTGCTCACCGACTACCTGCGCTACACGCCGGTGCTGCTGCTGCAGGGGCTCAGCTTCGTGTCG
GTGTGGCTGCTGCTGCTGCTGGGCCACTCGGTGGCGCACATGCAGCTCATGGAGCTCTTCTACAGCGTCACCATGGCCGCGCGCATCGCCTATTCCTCCTACATC
TTCTCTCTCGTGCGGCCCGCGCGCTACCAGCGTGTGGCCGGCTACTCGCGCGCTGCGGTGCTGCTGGGCGTGTTCACCAGCTCCGTGCTGGGCCAGCTGCTGGTC
ACTGTGGGCCGAGTCTCCTTCTCCACGCTCAACTACATCTCGCTGGCCTTCCTCACCTTCAGCGTGGTCCTCGCCCTCTTCCTGAAGCGCCCCAAGCGCAGCCTC
TTCTTCAACCGCGACGACCGGGGGCGGTGCGAAACCTCGGCTTCGGAGCTGGAGCGCATGAATCCTGGCCCAGGCGGGAAGCTGGGACACGCCCTGCGGGTGGCC
TGTGGGGACTCAGTGCTGGCGCGGATGCTGCGGGAGCTGGGGGACAGCCTGCGGCGGCCGCAGCTGCGCCTGTGGTCCCTCTGGTGGGTCTTCAACTCGGCCGGC
TACTACCTGGTGGTCTACTACGTGCACATCCTGTGGAACGAGGTGGACCCCACCACCAACAGTGCGCGGGTCTACAACGGCGCGGCAGATGCTGCCTCCACGCTG
CTGGGCGCCATCACGTCCTTCGCCGCGGGCTTCGTGAAGATCCGCTGGGCGCGCTGGTCCAAGCTGCTCATCGCGGGCGTCACGGCCACGCAGGCGGGGCTGGTC
TTCCTTCTGGCGCACACGCGCCACCCGAGCAGCATCTGGCTGTGCTATGCGGCCTTCGTGCTGTTCCGCGGCTCCTACCAGTTCCTCGTGCCCATCGCCACCTTT
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ATGGTGCCCTCCAGCCCAGCGGTGGAGAAGCAGGTGCCCGTGGAACCTGGGCCTGACCCCGAGCTCCGGTCCTGGCGGCACCTCGTGTGCTACCTTTGCTTCTAC
GGCTTCATGGCGCAGATACGGCCAGGGGAGAGCTTCATCACCCCCTACCTCCTGGGGCCCGACAAGAACTTCACGCGGGAGCAGGTCACGAACGAGATCACGCCG
GTGCTGTCGTACTCCTACCTGGCCGTGCTGGTGCCCGTGTTCCTGCTCACCGACTACCTGCGCTACACGCCGGTGCTGCTGCTGCAGGGGCTCAGCTTCGTGTCG
GTGTGGCTGCTGCTGCTGCTGGGCCACTCGGTGGCGCACATGCAGCTCATGGAGCTCTTCTACAGCGTCACCATGGCCGCGCGCATCGCCTATTCCTCCTACATC
TTCTCTCTCGTGCGGCCCGCGCGCTACCAGCGTGTGGCCGGCTACTCGCGCGCTGCGGTGCTGCTGGGCGTGTTCACCAGCTCCGTGCTGGGCCAGCTGCTGGTC
ACTGTGGGCCGAGTCTCCTTCTCCACGCTCAACTACATCTCGCTGGCCTTCCTCACCTTCAGCGTGGTCCTCGCCCTCTTCCTGAAGCGCCCCAAGCGCAGCCTC
TTCTTCAACCGCGACGACCGGGGGCGGTGCGAAACCTCGGCTTCGGAGCTGGAGCGCATGAATCCTGGCCCAGGCGGGAAGCTGGGACACGCCCTGCGGGTGGCC
TGTGGGGACTCAGTGCTGGCGCGGATGCTGCGGGAGCTGGGGGACAGCCTGCGGCGGCCGCAGCTGCGCCTGTGGTCCCTCTGGTGGGTCTTCAACTCGGCCGGC
TACTACCTGGTGGTCTACTACGTGCACATCCTGTGGAACGAGGTGGACCCCACCACCAACAGTGCGCGGGTCTACAACGGCGCGGCAGATGCTGCCTCCACGCTG
CTGGGCGCCATCACGTCCTTCGCCGCGGGCTTCGTGAAGATCCGCTGGGCGCGCTGGTCCAAGCTGCTCATCGCGGGCGTCACGGCCACGCAGGCGGGGCTGGTC
TTCCTTCTGGCGCACACGCGCCACCCGAGCAGCATCTGGCTGTGCTATGCGGCCTTCGTGCTGTTCCGCGGCTCCTACCAGTTCCTCGTGCCCATCGCCACCTTT
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>SLC19A1|6573|protein
MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPGESFITPYLLGPDKNFTREQVTNEITPVLSYSYLAVLVPVFLLTDYLRYTPVLLLQGLSFVS
VWLLLLLGHSVAHMQLMELFYSVTMAARIAYSSYIFSLVRPARYQRVAGYSRAAVLLGVFTSSVLGQLLVTVGRVSFSTLNYISLAFLTFSVVLALFLKRPKRSL
FFNRDDRGRCETSASELERMNPGPGGKLGHALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVFNSAGYYLVVYYVHILWNEVDPTTNSARVYNGAADAASTL
LGAITSFAAGFVKIRWARWSKLLIAGVTATQAGLVFLLAHTRHPSSIWLCYAAFVLFRGSYQFLVPIATFQIASSLSKELCALVFGVNTFFATIVKTIITFIVSD
VRGLGLPVRKQFQLYSVYFLILSIIYFLGAMLDGLRHCQRGHHPRQPPAQGLRSAAEEKAAQALSVQDKGLGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYL
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MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPGESFITPYLLGPDKNFTREQVTNEITPVLSYSYLAVLVPVFLLTDYLRYTPVLLLQGLSFVS
VWLLLLLGHSVAHMQLMELFYSVTMAARIAYSSYIFSLVRPARYQRVAGYSRAAVLLGVFTSSVLGQLLVTVGRVSFSTLNYISLAFLTFSVVLALFLKRPKRSL
FFNRDDRGRCETSASELERMNPGPGGKLGHALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVFNSAGYYLVVYYVHILWNEVDPTTNSARVYNGAADAASTL
LGAITSFAAGFVKIRWARWSKLLIAGVTATQAGLVFLLAHTRHPSSIWLCYAAFVLFRGSYQFLVPIATFQIASSLSKELCALVFGVNTFFATIVKTIITFIVSD
VRGLGLPVRKQFQLYSVYFLILSIIYFLGAMLDGLRHCQRGHHPRQPPAQGLRSAAEEKAAQALSVQDKGLGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYL
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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) | 0 (2) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 0
| Reference | Source | Platform | #Families | Affecteds | Result | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||||
| No Evidence. | |||||||||||||
Case Control Based Association Studies: 1
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| CAUCASIAN | |||||||||||
| James, 2006_1 | USA | ABI PRISM 7700 and 7900 Sequence Detection Systems | | | ASD | - - |
- | 205 (-) |
- - | ||
Large 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.