AutismKB 2.0

Evidence Details for SLC19A1


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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 LinksEntrez 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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>SLC19A1|6573|protein
MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPGESFITPYLLGPDKNFTREQVTNEITPVLSYSYLAVLVPVFLLTDYLRYTPVLLLQGLSFVS
VWLLLLLGHSVAHMQLMELFYSVTMAARIAYSSYIFSLVRPARYQRVAGYSRAAVLLGVFTSSVLGQLLVTVGRVSFSTLNYISLAFLTFSVVLALFLKRPKRSL
FFNRDDRGRCETSASELERMNPGPGGKLGHALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVFNSAGYYLVVYYVHILWNEVDPTTNSARVYNGAADAASTL
LGAITSFAAGFVKIRWARWSKLLIAGVTATQAGLVFLLAHTRHPSSIWLCYAAFVLFRGSYQFLVPIATFQIASSLSKELCALVFGVNTFFATIVKTIITFIVSD
VRGLGLPVRKQFQLYSVYFLILSIIYFLGAMLDGLRHCQRGHHPRQPPAQGLRSAAEEKAAQALSVQDKGLGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYL
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Evidence summary Top

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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top