AutismKB 2.0

Evidence Details for SLC16A9


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC16A9 ( C10orf36,FLJ43803,MCT9 )
Gene Full Name: solute carrier family 16, member 9 (monocarboxylic acid transporter 9)
Band: 10q21.2
Quick LinksEntrez ID:220963; OMIM: NA; Uniprot ID:MOT9_HUMAN; ENSEMBL ID: ENSG00000165449; HGNC ID: 23520
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC16A9|220963|nucleotide
ATGGAACTTAAAAAGTCGCCTGACGGTGGATGGGGCTGGGTGATTGTGTTTGTCTCCTTCCTTACTCAGTTTTTGTGTTACGGATCCCCACTAGCTGTTGGAGTC
CTGTACATAGAATGGCTGGATGCCTTTGGTGAAGGAAAAGGAAAAACAGCCTGGGTTGGATCCCTGGCAAGTGGAGTTGGCTTGCTTGCAAGTCCTGTCTGCAGT
CTCTGTGTCTCATCTTTTGGAGCAAGACCTGTCACAATCTTCAGTGGCTTCATGGTGGCTGGAGGCCTGATGTTGAGCAGTTTTGCTCCCAATATCTACTTTCTG
TTTTTTTCCTATGGCATTGTTGTAGGTCTTGGATGTGGTTTATTATACACTGCAACAGTGACCATTACGTGCCAGTATTTTGACGATCGCCGAGGCCTAGCGCTT
GGCCTGATTTCAACAGGTTCAAGCGTTGGCCTTTTCATATATGCTGCTCTGCAGAGGATGCTGGTTGAGTTCTATGGACTGGATGGATGCTTGCTGATTGTGGGT
GCTTTAGCTTTAAATATATTAGCCTGTGGCAGTCTGATGAGACCCCTCCAATCTTCTGATTGTCCTTTGCCTAAAAAAATAGCTCCAGAAGATCTACCAGATAAA
TACTCCATTTACAATGAAAAAGGAAAGAATCTGGAAGAAAACATAAACATTCTTGACAAGAGCTACAGTAGTGAGGAAAAATGCAGGATCACGTTAGCCAATGGT
GACTGGAAACAAGACAGCCTACTTCATAAAAACCCCACAGTGACACACACAAAAGAGCCTGAAACGTACAAAAAGAAAGTTGCAGAACAGACATATTTTTGCAAA
CAGCTTGCCAAGAGGAAGTGGCAGTTATATAAAAACTACTGTGGTGAAACTGTGGCTCTTTTTAAAAACAAAGTATTTTCAGCCCTTTTCATTGCTATCTTACTC
TTTGACATCGGAGGGTTTCCACCTTCATTACTTATGGAAGATGTAGCAAGAAGTTCAAACGTGAAAGAAGAAGAGTTTATTATGCCACTTATTTCCATTATAGGC
ATTATGACAGCAGTTGGTAAACTGCTTTTAGGGATACTGGCTGACTTCAAGTGGATTAATACCTTGTATCTTTATGTTGCTACCTTAATCATCATGGGCCTAGCC
Show »

>SLC16A9|220963|protein
MELKKSPDGGWGWVIVFVSFLTQFLCYGSPLAVGVLYIEWLDAFGEGKGKTAWVGSLASGVGLLASPVCSLCVSSFGARPVTIFSGFMVAGGLMLSSFAPNIYFL
FFSYGIVVGLGCGLLYTATVTITCQYFDDRRGLALGLISTGSSVGLFIYAALQRMLVEFYGLDGCLLIVGALALNILACGSLMRPLQSSDCPLPKKIAPEDLPDK
YSIYNEKGKNLEENINILDKSYSSEEKCRITLANGDWKQDSLLHKNPTVTHTKEPETYKKKVAEQTYFCKQLAKRKWQLYKNYCGETVALFKNKVFSALFIAILL
FDIGGFPPSLLMEDVARSSNVKEEEFIMPLISIIGIMTAVGKLLLGILADFKWINTLYLYVATLIIMGLALCAIPFAKSYVTLALLSGILGFLTGNWSIFPYVTT
KTVGIEKLAHAYGILMFFAGLGNSLGPPIVGWFYDWTQTYDIAFYFSGFCVLLGGFILLLAALPSWDTCNKQLPKPAPTTFLYKVASNV
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 11 (4)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.38033 Up 1.50544
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1732410
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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