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