Evidence Details for SLC16A5


Gene Symbol: | SLC16A5 ( MCT5,MCT6 ) |
---|---|
Gene Full Name: | solute carrier family 16, member 5 (monocarboxylic acid transporter 6) |
Band: | 17q25.1 |
Quick Links | Entrez ID:9121; OMIM: 603879; Uniprot ID:MOT6_HUMAN; ENSEMBL ID: ENSG00000170190; HGNC ID: 10926 |
Relate to Another Database: | SFARIGene; denovo-db |


>SLC16A5|9121|nucleotide
ATGCCCCAGGCCCTGGAGCGTGCAGATGGCAGCTGGGCCTGGGTGGTGCTGCTGGCCACCATGGTGACCCAGGGCCTCACCCTGGGCTTCCCCACGTGTATCGGC
ATCTTCTTCACTGAACTGCAATGGGAGTTCCAGGCCAGCAACAGCGAGACCTCTTGGTTCCCCTCCATCCTCACGGCTGTGCTCCACATGGCAGGGCCCCTGTGC
AGCATCCTGGTGGGACGCTTCGGCTGCCGAGTGACCGTGATGCTGGGGGGCGTGCTGGCCAGCCTGGGCATGGTGGCCAGCTCCTTCTCTCACAACCTCAGCCAG
CTCTACTTCACAGCAGGATTCATCACAGGCCTGGGCATGTGCTTCAGCTTCCAGTCAAGCATCACGGTGCTGGGCTTCTACTTTGTCCGCCGGCGGGTGCTGGCC
AACGCGCTGGCCTCGATGGGCGTCTCCCTGGGCATCACCCTCTGGCCGCTGCTCTCCCGCTACCTTCTGGAGAACCTGGGCTGGAGGGGTACCTTCCTTGTCTTC
GGCGGGATCTTTCTCCACTGCTGCATCTGCGGGGCCATCATAAGGCCTGTGGCCACCAGTGTGGCCCCTGAGACCAAAGAATGTCCCCCGCCACCTCCCGAGACA
CCTGCACTTGGCTGCCTGGCTGCATGCGGCCGGACCATCCAGCGCCACCTGGCCTTCGACATCCTGCGGCACAACACAGGCTACTGCGTGTACATACTGGGTGTG
ATGTGGTCCGTCCTGGGCTTCCCACTGCCACAAGTCTTCCTGGTGCCATATGCCATGTGGCACAGCGTGGACGAGCAGCAGGCAGCCCTCCTCATCTCCATCATC
GGCTTCAGCAACATCTTCCTGAGGCCCCTAGCCGGGCTGATGGCAGGACGGCCGGCCTTTGCTAGCCACCGCAAGTACCTGTTCAGCCTGGCACTCCTGCTCAAT
GGGCTCACTAACCTGGTGTGTGCGGCATCAGGTGACTTCTGGGTGCTCGTGGGCTACTGCCTGGCGTACAGCGTGTCCATGAGTGGCATCGGCGCCCTCATCTTC
CAGGTTCTCATGGACATCGTCCCCATGGATCAGTTCCCCAGAGCCCTGGGACTCTTCACTGTCCTGGACGGCCTTGCTTTCCTCATCTCCCCACCACTGGCCGGG
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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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MPQALERADGSWAWVVLLATMVTQGLTLGFPTCIGIFFTELQWEFQASNSETSWFPSILTAVLHMAGPLCSILVGRFGCRVTVMLGGVLASLGMVASSFSHNLSQ
LYFTAGFITGLGMCFSFQSSITVLGFYFVRRRVLANALASMGVSLGITLWPLLSRYLLENLGWRGTFLVFGGIFLHCCICGAIIRPVATSVAPETKECPPPPPET
PALGCLAACGRTIQRHLAFDILRHNTGYCVYILGVMWSVLGFPLPQVFLVPYAMWHSVDEQQAALLISIIGFSNIFLRPLAGLMAGRPAFASHRKYLFSLALLLN
GLTNLVCAASGDFWVLVGYCLAYSVSMSGIGALIFQVLMDIVPMDQFPRALGLFTVLDGLAFLISPPLAGLLLDATNNFSYVFYMSSFFLISAALFMGGSFYALQ
KKEQGKQAVAADALERDLFLEAKDGPGKQRSPEIMCQSSRQPRPAGVNKHLWGCPASSRTSHEWLLWPKAVLQAKQTALGWNSPT
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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) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bucan, 2009 | USA | SNP microarray | ![]() | ![]() | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | ![]() | ![]() | autism | - | - | - | - | 12 | 44 | 56 |






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. |






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