Evidence Details for SLC16A7
Basic Information Top
| Gene Symbol: | SLC16A7 ( MCT2 ) |
|---|---|
| Gene Full Name: | solute carrier family 16, member 7 (monocarboxylic acid transporter 2) |
| Band: | 12q14.1 |
| Quick Links | Entrez ID:9194; OMIM: 603654; Uniprot ID:MOT2_HUMAN; ENSEMBL ID: ENSG00000118596; HGNC ID: 10928 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SLC16A7|9194|nucleotide
ATGCCACCAATGCCAAGTGCCCCACCTGTGCATCCACCTCCAGATGGAGGATGGGGTTGGATTGTGGTTGGAGCAGCTTTTATCTCCATTGGATTTTCCTATGCA
TTCCCCAAAGCTGTCACCGTATTCTTCAAAGAAATTCAGCAAATATTCCACACTACCTACAGTGAAATAGCATGGATTTCATCCATTATGCTGGCTGTTATGTAC
GCAGGAGGTCCTGTAAGTAGTGTTTTGGTGAATAAATACGGCAGCCGGCCGGTGGTGATAGCAGGAGGCTTATTATGCTGTCTTGGAATGGTGTTGGCCTCCTTT
AGTAGCAGCGTGGTACAGCTGTACCTCACTATGGGATTCATTACAGGTTTAGGTTTAGCCTTCAACCTGCAACCCGCCTTAACCATAATTGGCAAATACTTCTAT
AGGAAGCGACCCATGGCAAATGGATTGGCCATGGCAGGAAGTCCTGTTTTCTTAAGTTCATTGGCTCCTTTCAATCAGTACCTTTTTAATACTTTTGGCTGGAAA
GGAAGCTTCCTGATTTTGGGAAGTCTACTTTTGAATGCCTGTGTGGCTGGTTCCCTCATGAGACCCCTTGGACCCAATCAAACCACTTCTAAGTCTAAAAATAAG
ACTGGCAAAACAGAAGATGATTCAAGCCCAAAGAAAATCAAAACGAAGAAATCAACTTGGGAAAAAGTTAATAAGTATTTAGATTTCTCCCTTTTTAAGCATAGA
GGATTTCTGATATATCTGTCTGGAAATGTCATTATGTTCCTAGGTTTTTTTGCCCCCATTATATTCTTGGCTCCATATGCTAAAGACCAAGGAATTGATGAGTAC
TCGGCAGCTTTTCTGCTATCTGTTATGGCTTTCGTTGATATGTTTGCTAGGCCTTCTGTAGGATTAATTGCAAACTCCAAATATATTCGACCTCGAATTCAGTAC
TTCTTCAGTTTTGCAATCATGTTCAATGGAGTGTGTCACCTCTTGTGCCCACTGGCACAGGACTACACAAGCCTGGTATTATATGCTGTATTTTTTGGCCTTGGA
TTTGGGAGTGTTAGCAGTGTTCTCTTTGAAACTCTCATGGACCTCGTGGGTGCACCAAGATTTTCCAGTGCCGTCGGACTTGTCACAATTGTGGAGTGTGGCCCA
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ATGCCACCAATGCCAAGTGCCCCACCTGTGCATCCACCTCCAGATGGAGGATGGGGTTGGATTGTGGTTGGAGCAGCTTTTATCTCCATTGGATTTTCCTATGCA
TTCCCCAAAGCTGTCACCGTATTCTTCAAAGAAATTCAGCAAATATTCCACACTACCTACAGTGAAATAGCATGGATTTCATCCATTATGCTGGCTGTTATGTAC
GCAGGAGGTCCTGTAAGTAGTGTTTTGGTGAATAAATACGGCAGCCGGCCGGTGGTGATAGCAGGAGGCTTATTATGCTGTCTTGGAATGGTGTTGGCCTCCTTT
AGTAGCAGCGTGGTACAGCTGTACCTCACTATGGGATTCATTACAGGTTTAGGTTTAGCCTTCAACCTGCAACCCGCCTTAACCATAATTGGCAAATACTTCTAT
AGGAAGCGACCCATGGCAAATGGATTGGCCATGGCAGGAAGTCCTGTTTTCTTAAGTTCATTGGCTCCTTTCAATCAGTACCTTTTTAATACTTTTGGCTGGAAA
GGAAGCTTCCTGATTTTGGGAAGTCTACTTTTGAATGCCTGTGTGGCTGGTTCCCTCATGAGACCCCTTGGACCCAATCAAACCACTTCTAAGTCTAAAAATAAG
ACTGGCAAAACAGAAGATGATTCAAGCCCAAAGAAAATCAAAACGAAGAAATCAACTTGGGAAAAAGTTAATAAGTATTTAGATTTCTCCCTTTTTAAGCATAGA
GGATTTCTGATATATCTGTCTGGAAATGTCATTATGTTCCTAGGTTTTTTTGCCCCCATTATATTCTTGGCTCCATATGCTAAAGACCAAGGAATTGATGAGTAC
TCGGCAGCTTTTCTGCTATCTGTTATGGCTTTCGTTGATATGTTTGCTAGGCCTTCTGTAGGATTAATTGCAAACTCCAAATATATTCGACCTCGAATTCAGTAC
TTCTTCAGTTTTGCAATCATGTTCAATGGAGTGTGTCACCTCTTGTGCCCACTGGCACAGGACTACACAAGCCTGGTATTATATGCTGTATTTTTTGGCCTTGGA
TTTGGGAGTGTTAGCAGTGTTCTCTTTGAAACTCTCATGGACCTCGTGGGTGCACCAAGATTTTCCAGTGCCGTCGGACTTGTCACAATTGTGGAGTGTGGCCCA
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>SLC16A7|9194|protein
MPPMPSAPPVHPPPDGGWGWIVVGAAFISIGFSYAFPKAVTVFFKEIQQIFHTTYSEIAWISSIMLAVMYAGGPVSSVLVNKYGSRPVVIAGGLLCCLGMVLASF
SSSVVQLYLTMGFITGLGLAFNLQPALTIIGKYFYRKRPMANGLAMAGSPVFLSSLAPFNQYLFNTFGWKGSFLILGSLLLNACVAGSLMRPLGPNQTTSKSKNK
TGKTEDDSSPKKIKTKKSTWEKVNKYLDFSLFKHRGFLIYLSGNVIMFLGFFAPIIFLAPYAKDQGIDEYSAAFLLSVMAFVDMFARPSVGLIANSKYIRPRIQY
FFSFAIMFNGVCHLLCPLAQDYTSLVLYAVFFGLGFGSVSSVLFETLMDLVGAPRFSSAVGLVTIVECGPVLLGPPLAGKLVDLTGEYKYMYMSCGAIVVAASVW
LLIGNAINYRLLAKERKEENARQKTRESEPLSKSKHSEDVNVKVSNAQSVTSERETNI
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MPPMPSAPPVHPPPDGGWGWIVVGAAFISIGFSYAFPKAVTVFFKEIQQIFHTTYSEIAWISSIMLAVMYAGGPVSSVLVNKYGSRPVVIAGGLLCCLGMVLASF
SSSVVQLYLTMGFITGLGLAFNLQPALTIIGKYFYRKRPMANGLAMAGSPVFLSSLAPFNQYLFNTFGWKGSFLILGSLLLNACVAGSLMRPLGPNQTTSKSKNK
TGKTEDDSSPKKIKTKKSTWEKVNKYLDFSLFKHRGFLIYLSGNVIMFLGFFAPIIFLAPYAKDQGIDEYSAAFLLSVMAFVDMFARPSVGLIANSKYIRPRIQY
FFSFAIMFNGVCHLLCPLAQDYTSLVLYAVFFGLGFGSVSSVLFETLMDLVGAPRFSSAVGLVTIVECGPVLLGPPLAGKLVDLTGEYKYMYMSCGAIVVAASVW
LLIGNAINYRLLAKERKEENARQKTRESEPLSKSKHSEDVNVKVSNAQSVTSERETNI
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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 (1) | 0 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (5) |
Syndromic Autism Gene Top
Genome-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 Top
| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | ![]() | ![]() | ASD | 1491 | - | - | - | - | - | 0 |
| Pinto, 2010 | - | SNP microarray, qPCR | ![]() | ![]() | ASD | - | - | - | - | 996 | 1287 | 2283 |
| 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
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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