AutismKB 2.0

Evidence Details for SLC16A8


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Basic Information Top
Gene Symbol:SLC16A8 ( MCT3,REMP )
Gene Full Name: solute carrier family 16, member 8 (monocarboxylic acid transporter 3)
Band: 22q13.1
Quick LinksEntrez ID:23539; OMIM: 610409; Uniprot ID:MOT3_HUMAN; ENSEMBL ID: ENSG00000100156; HGNC ID: 16270
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC16A8|23539|nucleotide
ATGGGCGCTGGCGGCCCCCGGCGGGGCGAGGGCCCCCCAGACGGCGGCTGGGGCTGGGTGGTGCTGGGCGCCTGCTTTGTGGTCACCGGCTTCGCCTACGGCTTC
CCCAAAGCCGTGAGCGTCTTCTTCCGCGCGCTCATGCGCGACTTCGACGCCGGCTACAGCGACACGGCCTGGGTGTCCTCCATCATGCTAGCCATGCTCTACGGC
ACGGGCCCCGTGTCCAGCATCCTCGTGACCCGCTTTGGCTGTCGCCCGGTGATGCTGGCGGGTGGGCTGCTGGCTTCCGCGGGCATGATCCTAGCTTCCTTTGCC
ACGCGCCTCCTGGAGCTCTACCTGACCGCTGGGGTGCTCACAGGCCTGGGCCTGGCCCTCAACTTCCAGCCGTCGCTCATCATGCTGGGGCTGTACTTCGAGCGG
CGGCGGCCTCTGGCCAACGGGCTGGCGGCGGCGGGCAGCCCCGTGTTCCTGTCCGCGCTGTCGCCGCTCGGCCAGCAGCTGCTGGAGCGCTTCGGCTGGCGCGGC
GGCTTCCTGCTGCTCGGCGGGCTCCTGCTGCACTGCTGCGCCTGCGGGGCTGTCATGAGGCCGCCGCCCGGGCCGGGCCCGCGACCGCGCAGGGACAGCGCCGGC
GACCGCGCCGGGGACGCTCCGGGCGAGGCGGAGGCTGACGGTGCGGGGCTGCAGCTGCGCGAGGCATCCCCCAGGGTCCGGCCCCGCCGGCGCCTGCTGGACTTG
GCAGTGTGCACCGACCGCGCCTTCGCCGTGTACGCCGTCACCAAGTTCCTGATGGCGCTCGGGCTCTTCGTCCCCGCCATCCTGCTGGTGAACTACGCCAAGGAC
GCGGGCGTGCCCGACACCGACGCCGCCTTCCTGCTGTCCATCGTGGGCTTCGTGGACATCGTGGCGCGCCCGGCGTGCGGCGCCCTGGCGGGCCTGGCGCGTCTG
CGGCCGCACGTCCCGTATCTGTTCAGCCTGGCCCTGCTGGCCAATGGGCTCACAGACCTGAGCAGCGCACGCGCGCGCTCCTACGGCGCCCTCGTCGCCTTCTGC
GTCGCCTTCGGCCTCTCCTACGGCATGGTGGGCGCGCTGCAGTTCGAGGTGCTCATGGCGGCTGTGGGCGCGCCCCGCTTCCCCAGTGCGCTGGGCCTGGTGTTG
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>SLC16A8|23539|protein
MGAGGPRRGEGPPDGGWGWVVLGACFVVTGFAYGFPKAVSVFFRALMRDFDAGYSDTAWVSSIMLAMLYGTGPVSSILVTRFGCRPVMLAGGLLASAGMILASFA
TRLLELYLTAGVLTGLGLALNFQPSLIMLGLYFERRRPLANGLAAAGSPVFLSALSPLGQQLLERFGWRGGFLLLGGLLLHCCACGAVMRPPPGPGPRPRRDSAG
DRAGDAPGEAEADGAGLQLREASPRVRPRRRLLDLAVCTDRAFAVYAVTKFLMALGLFVPAILLVNYAKDAGVPDTDAAFLLSIVGFVDIVARPACGALAGLARL
RPHVPYLFSLALLANGLTDLSSARARSYGALVAFCVAFGLSYGMVGALQFEVLMAAVGAPRFPSALGLVLLVEAAAVLIGPPSAGRLVDVLKNYEIIFYLAGSEV
ALAGVFMAVATNCCLRCAKAAPSGPGTEGGASDTEDAEAEGDSEPLPVVAEEPGNLEALEVLSARGEPTEPEIEARPRLAAESV
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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 (3) 0 (0) 0 (0) 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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top