AutismKB 2.0

Evidence Details for SLC16A2


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Basic Information Top
Gene Symbol:SLC16A2 ( AHDS,DXS128,DXS128E,MCT 7,MCT 8,MCT7,MCT8,MRX22,XPCT )
Gene Full Name: solute carrier family 16, member 2 (monocarboxylic acid transporter 8)
Band: Xq13.2
Quick LinksEntrez ID:6567; OMIM: 300095; Uniprot ID:MOT8_HUMAN; ENSEMBL ID: ENSG00000147100; HGNC ID: 10923
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC16A2|6567|nucleotide
ATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGA
GGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGT
CCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCG
GAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAG
CTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGG
GTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAAT
CGCCAAGTGGAGTTCCAAGCAGCATGGGTCGGAGCCCTCGCGATGGGTATGATCTTCTTCTGTTCTCCCATTGTGAGTATATTCACTGACCGTTTGGGCTGCCGA
ATCACAGCAACCGCGGGGGCTGCCGTTGCTTTCATTGGCCTCCATACCAGCTCCTTCACCAGCTCCCTAAGCCTGCGCTACTTCACCTACGGGATTCTCTTTGGT
TGTGGCTGTTCCTTCGCCTTTCAGCCATCCCTCGTCATCCTGGGCCACTACTTTCAACGCCGCCTGGGTCTGGCCAATGGTGTGGTGTCTGCTGGGAGTAGCATT
TTCTCCATGTCCTTCCCCTTCCTCATCAGAATGCTGGGGGATAAGATCAAGCTGGCCCAAACCTTCCAGGTGCTGAGTACCTTCATGTTTGTTCTTATGCTGCTT
TCACTCACCTACCGGCCCCTCCTGCCCAGCTCCCAGGACACCCCAAGCAAGAGAGGTGTCCGCACCCTGCACCAGCGCTTTCTGGCTCAGCTCAGGAAGTACTTC
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>SLC16A2|6567|protein
MGRGGGGLDVGGGGEGSRDRLSRDGLASWGAEPGGGGSGSGSSSPPSSSSCSSRNKYQPQSGSSGPSSHSPPAAMALQSQASEEAKGPWQEADQEQQEPVGSPEP
ESEPEPEPEPEPVPVPPPEPQPEPQPLPDPAPLPELEFESERVHEPEPTPTVETRGTARGFQPPEGGFGWVVVFAATWCNGSIFGIHNSVGILYSMLLEEEKEKN
RQVEFQAAWVGALAMGMIFFCSPIVSIFTDRLGCRITATAGAAVAFIGLHTSSFTSSLSLRYFTYGILFGCGCSFAFQPSLVILGHYFQRRLGLANGVVSAGSSI
FSMSFPFLIRMLGDKIKLAQTFQVLSTFMFVLMLLSLTYRPLLPSSQDTPSKRGVRTLHQRFLAQLRKYFNMRVFRQRTYRIWAFGIAAAALGYFVPYVHLMKYV
EEEFSEIKETWVLLVCIGATSGLGRLVSGHISDSIPGLKKIYLQVLSFLLLGLMSMMIPLCRDFGGLIVVCLFLGLCDGFFITIMAPIAFELVGPMQASQAIGYL
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Wentz E, 2014 - ---Autistic disorder 1 - 1 - 2 - 2
Linkage Studies Top