AutismKB 2.0

Evidence Details for SLC16A1


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Basic Information Top
Gene Symbol:SLC16A1 ( FLJ36745,HHF7,MCT,MCT1,MGC44475 )
Gene Full Name: solute carrier family 16, member 1 (monocarboxylic acid transporter 1)
Band: 1p13.2
Quick LinksEntrez ID:6566; OMIM: 600682; Uniprot ID:MOT1_HUMAN; ENSEMBL ID: ENSG00000155380; HGNC ID: 10922
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC16A1|6566|nucleotide
ATGCCACCAGCAGTTGGAGGTCCAGTTGGATACACCCCCCCAGATGGAGGCTGGGGCTGGGCAGTGGTAATTGGAGCTTTCATTTCCATCGGCTTCTCTTATGCA
TTTCCCAAATCAATTACTGTCTTCTTCAAAGAGATTGAAGGTATATTCCATGCCACCACCAGCGAAGTGTCATGGATATCCTCCATAATGTTGGCTGTCATGTAT
GGTGGAGGTCCTATCAGCAGTATCCTGGTGAATAAATATGGAAGTCGTATAGTCATGATTGTTGGTGGCTGCTTGTCAGGCTGTGGCTTGATTGCAGCTTCTTTC
TGTAACACCGTACAGCAACTATACGTCTGTATTGGAGTCATTGGAGGTCTTGGGCTTGCCTTCAACTTGAATCCAGCTCTGACCATGATTGGCAAGTATTTCTAC
AAGAGGCGACCATTGGCCAACGGACTGGCCATGGCAGGCAGCCCTGTGTTCCTCTGTACTCTGGCCCCCCTCAATCAGGTTTTCTTCGGTATCTTTGGATGGAGA
GGAAGCTTTCTAATTCTTGGGGGCTTGCTACTAAACTGCTGTGTTGCTGGAGCCCTCATGCGACCAATCGGGCCCAAGCCAACCAAGGCAGGGAAAGATAAGTCT
AAAGCATCCCTTGAGAAAGCTGGAAAATCTGGTGTGAAAAAAGATCTGCATGATGCAAATACAGATCTTATTGGAAGACACCCTAAACAAGAGAAACGATCAGTC
TTCCAAACAATTAATCAGTTCCTGGACTTAACCCTATTCACCCACAGAGGCTTTTTGCTATACCTCTCTGGAAATGTGATCATGTTTTTTGGACTCTTTGCACCT
TTGGTGTTTCTTAGTAGTTATGGGAAGAGTCAGCATTATTCTAGTGAGAAGTCTGCCTTCCTTCTTTCCATTCTGGCTTTTGTTGACATGGTAGCCCGACCATCT
ATGGGACTTGTAGCCAACACAAAGCCAATAAGACCTCGAATTCAGTATTTCTTTGCGGCTTCCGTTGTTGCAAATGGAGTGTGTCATATGCTAGCACCTTTATCC
ACTACCTATGTTGGATTCTGTGTCTATGCGGGATTCTTTGGATTTGCCTTCGGGTGGCTCAGCTCCGTATTGTTTGAAACATTGATGGACCTTGTTGGACCCCAG
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>SLC16A1|6566|protein
MPPAVGGPVGYTPPDGGWGWAVVIGAFISIGFSYAFPKSITVFFKEIEGIFHATTSEVSWISSIMLAVMYGGGPISSILVNKYGSRIVMIVGGCLSGCGLIAASF
CNTVQQLYVCIGVIGGLGLAFNLNPALTMIGKYFYKRRPLANGLAMAGSPVFLCTLAPLNQVFFGIFGWRGSFLILGGLLLNCCVAGALMRPIGPKPTKAGKDKS
KASLEKAGKSGVKKDLHDANTDLIGRHPKQEKRSVFQTINQFLDLTLFTHRGFLLYLSGNVIMFFGLFAPLVFLSSYGKSQHYSSEKSAFLLSILAFVDMVARPS
MGLVANTKPIRPRIQYFFAASVVANGVCHMLAPLSTTYVGFCVYAGFFGFAFGWLSSVLFETLMDLVGPQRFSSAVGLVTIVECCPVLLGPPLLGRLNDMYGDYK
YTYWACGVVLIISGIYLFIGMGINYRLLAKEQKANEQKKESKEEETSIDVAGKPNEVTKAAESPDQKDTDGGPKEEESPV
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top