AutismKB 2.0

Evidence Details for SLC16A7


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Basic Information Top
Gene Symbol:SLC16A7 ( MCT2 )
Gene Full Name: solute carrier family 16, member 7 (monocarboxylic acid transporter 2)
Band: 12q14.1
Quick LinksEntrez ID:9194; OMIM: 603654; Uniprot ID:MOT2_HUMAN; ENSEMBL ID: ENSG00000118596; HGNC ID: 10928
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC16A7|9194|nucleotide
ATGCCACCAATGCCAAGTGCCCCACCTGTGCATCCACCTCCAGATGGAGGATGGGGTTGGATTGTGGTTGGAGCAGCTTTTATCTCCATTGGATTTTCCTATGCA
TTCCCCAAAGCTGTCACCGTATTCTTCAAAGAAATTCAGCAAATATTCCACACTACCTACAGTGAAATAGCATGGATTTCATCCATTATGCTGGCTGTTATGTAC
GCAGGAGGTCCTGTAAGTAGTGTTTTGGTGAATAAATACGGCAGCCGGCCGGTGGTGATAGCAGGAGGCTTATTATGCTGTCTTGGAATGGTGTTGGCCTCCTTT
AGTAGCAGCGTGGTACAGCTGTACCTCACTATGGGATTCATTACAGGTTTAGGTTTAGCCTTCAACCTGCAACCCGCCTTAACCATAATTGGCAAATACTTCTAT
AGGAAGCGACCCATGGCAAATGGATTGGCCATGGCAGGAAGTCCTGTTTTCTTAAGTTCATTGGCTCCTTTCAATCAGTACCTTTTTAATACTTTTGGCTGGAAA
GGAAGCTTCCTGATTTTGGGAAGTCTACTTTTGAATGCCTGTGTGGCTGGTTCCCTCATGAGACCCCTTGGACCCAATCAAACCACTTCTAAGTCTAAAAATAAG
ACTGGCAAAACAGAAGATGATTCAAGCCCAAAGAAAATCAAAACGAAGAAATCAACTTGGGAAAAAGTTAATAAGTATTTAGATTTCTCCCTTTTTAAGCATAGA
GGATTTCTGATATATCTGTCTGGAAATGTCATTATGTTCCTAGGTTTTTTTGCCCCCATTATATTCTTGGCTCCATATGCTAAAGACCAAGGAATTGATGAGTAC
TCGGCAGCTTTTCTGCTATCTGTTATGGCTTTCGTTGATATGTTTGCTAGGCCTTCTGTAGGATTAATTGCAAACTCCAAATATATTCGACCTCGAATTCAGTAC
TTCTTCAGTTTTGCAATCATGTTCAATGGAGTGTGTCACCTCTTGTGCCCACTGGCACAGGACTACACAAGCCTGGTATTATATGCTGTATTTTTTGGCCTTGGA
TTTGGGAGTGTTAGCAGTGTTCTCTTTGAAACTCTCATGGACCTCGTGGGTGCACCAAGATTTTCCAGTGCCGTCGGACTTGTCACAATTGTGGAGTGTGGCCCA
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>SLC16A7|9194|protein
MPPMPSAPPVHPPPDGGWGWIVVGAAFISIGFSYAFPKAVTVFFKEIQQIFHTTYSEIAWISSIMLAVMYAGGPVSSVLVNKYGSRPVVIAGGLLCCLGMVLASF
SSSVVQLYLTMGFITGLGLAFNLQPALTIIGKYFYRKRPMANGLAMAGSPVFLSSLAPFNQYLFNTFGWKGSFLILGSLLLNACVAGSLMRPLGPNQTTSKSKNK
TGKTEDDSSPKKIKTKKSTWEKVNKYLDFSLFKHRGFLIYLSGNVIMFLGFFAPIIFLAPYAKDQGIDEYSAAFLLSVMAFVDMFARPSVGLIANSKYIRPRIQY
FFSFAIMFNGVCHLLCPLAQDYTSLVLYAVFFGLGFGSVSSVLFETLMDLVGAPRFSSAVGLVTIVECGPVLLGPPLAGKLVDLTGEYKYMYMSCGAIVVAASVW
LLIGNAINYRLLAKERKEENARQKTRESEPLSKSKHSEDVNVKVSNAQSVTSERETNI
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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 (1) 0 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top