Evidence Details for SLC16A12
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 Links | Entrez 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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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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MPSGSHWTANSSKIITWLLEQPGKEEKRKTMAKVNRARSTSPPDGGWGWMIVAGCFLVTICTRAVTRCISIFFVEFQTYFTQDYAQTAWIHSIVDCVTMLCAPLG
SVVSNHLSCQVGIMLGGLLASTGLILSSFATSLKHLYLTLGVLTGLGFALCYSPAIAMVGKYFSRRKALAYGIAMSGSGIGTFILAPVVQLLIEQFSWRGALLIL
GGFVLNLCVCGALMRPITLKEDHTTPEQNHVCRTQKEDIKRVSPYSSLTKEWAQTCLCCCLQQEYSFLLMSDFVVLAVSVLFMAYGCSPLFVYLVPYALSVGVSH
QQAAFLMSILGVIDIIGNITFGWLTDRRCLKNYQYVCYLFAVGMDGLCYLCLPMLQSLPLLVPFSCTFGYFDGAYVTLIPVVTTEIVGTTSLSSALGVVYFLHAV
PYLVSPPIAGRLVDTTGSYTAAFLLCGFSMIFSSVLLGFARLIKRMRKTQLQFIAKESDPKLQLWTNGSVAYSVARELDQKHGEPVATAVPGYSLT
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Evidence summary TopClick 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 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-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 TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | | | autism | 115 | - | 115 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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 TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.