AutismKB 2.0

Evidence Details for SLC16A5


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Basic Information Top
Gene Symbol:SLC16A5 ( MCT5,MCT6 )
Gene Full Name: solute carrier family 16, member 5 (monocarboxylic acid transporter 6)
Band: 17q25.1
Quick LinksEntrez ID:9121; OMIM: 603879; Uniprot ID:MOT6_HUMAN; ENSEMBL ID: ENSG00000170190; HGNC ID: 10926
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC16A5|9121|nucleotide
ATGCCCCAGGCCCTGGAGCGTGCAGATGGCAGCTGGGCCTGGGTGGTGCTGCTGGCCACCATGGTGACCCAGGGCCTCACCCTGGGCTTCCCCACGTGTATCGGC
ATCTTCTTCACTGAACTGCAATGGGAGTTCCAGGCCAGCAACAGCGAGACCTCTTGGTTCCCCTCCATCCTCACGGCTGTGCTCCACATGGCAGGGCCCCTGTGC
AGCATCCTGGTGGGACGCTTCGGCTGCCGAGTGACCGTGATGCTGGGGGGCGTGCTGGCCAGCCTGGGCATGGTGGCCAGCTCCTTCTCTCACAACCTCAGCCAG
CTCTACTTCACAGCAGGATTCATCACAGGCCTGGGCATGTGCTTCAGCTTCCAGTCAAGCATCACGGTGCTGGGCTTCTACTTTGTCCGCCGGCGGGTGCTGGCC
AACGCGCTGGCCTCGATGGGCGTCTCCCTGGGCATCACCCTCTGGCCGCTGCTCTCCCGCTACCTTCTGGAGAACCTGGGCTGGAGGGGTACCTTCCTTGTCTTC
GGCGGGATCTTTCTCCACTGCTGCATCTGCGGGGCCATCATAAGGCCTGTGGCCACCAGTGTGGCCCCTGAGACCAAAGAATGTCCCCCGCCACCTCCCGAGACA
CCTGCACTTGGCTGCCTGGCTGCATGCGGCCGGACCATCCAGCGCCACCTGGCCTTCGACATCCTGCGGCACAACACAGGCTACTGCGTGTACATACTGGGTGTG
ATGTGGTCCGTCCTGGGCTTCCCACTGCCACAAGTCTTCCTGGTGCCATATGCCATGTGGCACAGCGTGGACGAGCAGCAGGCAGCCCTCCTCATCTCCATCATC
GGCTTCAGCAACATCTTCCTGAGGCCCCTAGCCGGGCTGATGGCAGGACGGCCGGCCTTTGCTAGCCACCGCAAGTACCTGTTCAGCCTGGCACTCCTGCTCAAT
GGGCTCACTAACCTGGTGTGTGCGGCATCAGGTGACTTCTGGGTGCTCGTGGGCTACTGCCTGGCGTACAGCGTGTCCATGAGTGGCATCGGCGCCCTCATCTTC
CAGGTTCTCATGGACATCGTCCCCATGGATCAGTTCCCCAGAGCCCTGGGACTCTTCACTGTCCTGGACGGCCTTGCTTTCCTCATCTCCCCACCACTGGCCGGG
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>SLC16A5|9121|protein
MPQALERADGSWAWVVLLATMVTQGLTLGFPTCIGIFFTELQWEFQASNSETSWFPSILTAVLHMAGPLCSILVGRFGCRVTVMLGGVLASLGMVASSFSHNLSQ
LYFTAGFITGLGMCFSFQSSITVLGFYFVRRRVLANALASMGVSLGITLWPLLSRYLLENLGWRGTFLVFGGIFLHCCICGAIIRPVATSVAPETKECPPPPPET
PALGCLAACGRTIQRHLAFDILRHNTGYCVYILGVMWSVLGFPLPQVFLVPYAMWHSVDEQQAALLISIIGFSNIFLRPLAGLMAGRPAFASHRKYLFSLALLLN
GLTNLVCAASGDFWVLVGYCLAYSVSMSGIGALIFQVLMDIVPMDQFPRALGLFTVLDGLAFLISPPLAGLLLDATNNFSYVFYMSSFFLISAALFMGGSFYALQ
KKEQGKQAVAADALERDLFLEAKDGPGKQRSPEIMCQSSRQPRPAGVNKHLWGCPASSRTSHEWLLWPKAVLQAKQTALGWNSPT
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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