AutismKB 2.0

Evidence Details for SLC16A12


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Basic Information Top
Gene Symbol:SLC16A12 ( CJMG,DKFZp686E188,MCT12 )
Gene Full Name: solute carrier family 16, member 12 (monocarboxylic acid transporter 12)
Band: 10q23.31
Quick LinksEntrez ID:387700; OMIM: 611910; Uniprot ID:MOT12_HUMAN; ENSEMBL ID: ENSG00000152779; HGNC ID: 23094
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC16A12|387700|nucleotide
ATGCCATCAGGAAGTCACTGGACAGCAAACTCTTCCAAGATCATAACTTGGCTGTTGGAGCAACCTGGAAAAGAAGAAAAAAGAAAAACCATGGCAAAAGTAAAT
AGAGCTCGGTCTACCTCCCCTCCAGATGGAGGCTGGGGCTGGATGATTGTGGCTGGCTGTTTCCTTGTTACCATCTGCACACGGGCAGTCACAAGATGTATCTCA
ATTTTTTTTGTGGAGTTCCAGACATACTTCACTCAGGATTACGCACAAACGGCATGGATCCATTCCATTGTAGATTGTGTGACCATGCTCTGTGCTCCACTTGGG
AGTGTTGTCAGTAACCATTTATCCTGTCAAGTGGGAATCATGCTGGGTGGCTTGCTTGCATCTACTGGACTCATCCTGAGCTCATTTGCCACGAGTCTGAAGCAT
CTCTACCTCACTCTGGGAGTTCTTACAGGTCTTGGATTTGCACTTTGTTACTCTCCAGCTATTGCCATGGTTGGCAAGTACTTCAGCAGACGGAAAGCCCTTGCT
TATGGTATCGCCATGTCAGGAAGTGGCATTGGCACCTTCATCCTGGCTCCTGTGGTTCAGCTCCTTATTGAACAGTTTTCCTGGCGGGGAGCCTTACTCATTCTT
GGGGGCTTTGTCTTGAATCTCTGTGTATGTGGTGCCTTGATGAGGCCAATTACTCTTAAAGAGGACCACACAACTCCAGAGCAGAACCATGTGTGTAGAACTCAG
AAAGAAGACATTAAGCGGGTGTCTCCCTATTCATCTTTGACCAAAGAATGGGCACAGACTTGCCTCTGTTGCTGTTTGCAGCAAGAGTACAGTTTTTTACTCATG
TCAGACTTTGTTGTGTTAGCCGTCTCCGTTCTGTTTATGGCTTATGGCTGCAGCCCTCTCTTTGTGTACTTGGTGCCTTATGCTTTGAGTGTTGGAGTGAGTCAT
CAGCAAGCTGCTTTTCTTATGTCCATACTTGGAGTGATTGACATTATTGGCAATATCACATTTGGATGGCTGACCGACAGAAGGTGTCTGAAGAATTACCAGTAT
GTTTGCTACCTCTTTGCCGTGGGAATGGATGGGCTCTGCTATCTCTGCCTCCCAATGCTTCAAAGTCTCCCTCTGCTCGTGCCTTTCTCTTGTACCTTTGGCTAC
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>SLC16A12|387700|protein
MPSGSHWTANSSKIITWLLEQPGKEEKRKTMAKVNRARSTSPPDGGWGWMIVAGCFLVTICTRAVTRCISIFFVEFQTYFTQDYAQTAWIHSIVDCVTMLCAPLG
SVVSNHLSCQVGIMLGGLLASTGLILSSFATSLKHLYLTLGVLTGLGFALCYSPAIAMVGKYFSRRKALAYGIAMSGSGIGTFILAPVVQLLIEQFSWRGALLIL
GGFVLNLCVCGALMRPITLKEDHTTPEQNHVCRTQKEDIKRVSPYSSLTKEWAQTCLCCCLQQEYSFLLMSDFVVLAVSVLFMAYGCSPLFVYLVPYALSVGVSH
QQAAFLMSILGVIDIIGNITFGWLTDRRCLKNYQYVCYLFAVGMDGLCYLCLPMLQSLPLLVPFSCTFGYFDGAYVTLIPVVTTEIVGTTSLSSALGVVYFLHAV
PYLVSPPIAGRLVDTTGSYTAAFLLCGFSMIFSSVLLGFARLIKRMRKTQLQFIAKESDPKLQLWTNGSVAYSVARELDQKHGEPVATAVPGYSLT
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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 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Takata A, 2018 262 262 322 Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018