Evidence Details for MFSD6
Basic Information Top
| Gene Symbol: | MFSD6 ( FLJ20160,MMR2,hMMR2 ) |
|---|---|
| Gene Full Name: | major facilitator superfamily domain containing 6 |
| Band: | 2q32.2 |
| Quick Links | Entrez ID:54842; OMIM: 613476; Uniprot ID:MFSD6_HUMAN; ENSEMBL ID: ENSG00000151690; HGNC ID: 24711 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MFSD6|54842|nucleotide
ATGGCAGATGATAAAGTTGCTATCTTAACGGATGATGAAGAGGAACAGAAGAGAAAGTATGTGCTTGCAGATCCCTTTAATGGTATTTCCAGGGAACCAGAACCA
CCTTCGAATGAAACACCTTCCTCCACAGAAACATCTGCTATTCCTGAGGAGGAAATAGACTGGATAGAGAAACATTGTGTTAAGATAAACAACGATCTTCTAATT
TCCAAGGTCTTTTATTTTTTCTTTTACTCTGCCTATGGCTCTCTCTATCCCCTTTTGCCTGTGTATTACAAACAGCTGGGAATGTCTCCAAGCCAGAGTGGACTA
CTAGTAGGTATTCGTTACTTCATTGAATTCTGCAGTGCCCCCTTTTGGGGTGTAGTTGCAGACCGCTTTAAAAAAGGCAAAATTGTCCTCCTCTTTTCTCTTTTG
TGTTGGGTTTTATTCAACCTGGGCATTGGATTTGTCAAACCTGCTACCTTGAGATGTGTACCAAAGATTCGCCCAACAACTCACCCCACCAATGCAAGTCACCAG
TTAACTATCCTGCCAACAAATTCTTCCTTTACCTCTTTCCTCACCATATCACCAAAAATGCGTGAGAAAAGAAACCTTTTGGAAACAAGGCTCAATGTCTCAGAC
ACCGTTACTTTGCCAACAGCTCCAAACATGAACAGTGAACCCACTCTGCAGCCCCAGACAGGTGAAATTACTAACCGTATGATGGACTTGACTTTGAACTCAAGC
ACAGCAACCCCTGTCTCCCCAGGAAGCGTAACCAAGGAGACAACCACTGTTATTGTTACCACCACCAAATCTTTACCTTCTGACCAAGTCATGCTTGTTTATGAT
CAACAAGAAGTTGAAGCTATATTCTTGGTGATCTTGGTAGTTGTCATAATAGGAGAATTTTTCAGTGCCTCTTCTGTCACAATCGTAGACACGGTCACACTCCAG
TATCTGGGAAAACACAGAGATCGCTATGGGTTGCAGCGCATGTGGGGCTCCCTGGGCTGGGGCCTGGCGATGCTGTCTGTGGGCATCGGGATCGACTACACCCAC
ATCGAAGTGCTCATCGATGGAAAGGGGTGTAAGCCCCCCGAGTACAGGAATTACCAGATCGTCTTCATCGTCTTCGGCGTTCTCATGACCATGGCCTTGATCGTT
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ATGGCAGATGATAAAGTTGCTATCTTAACGGATGATGAAGAGGAACAGAAGAGAAAGTATGTGCTTGCAGATCCCTTTAATGGTATTTCCAGGGAACCAGAACCA
CCTTCGAATGAAACACCTTCCTCCACAGAAACATCTGCTATTCCTGAGGAGGAAATAGACTGGATAGAGAAACATTGTGTTAAGATAAACAACGATCTTCTAATT
TCCAAGGTCTTTTATTTTTTCTTTTACTCTGCCTATGGCTCTCTCTATCCCCTTTTGCCTGTGTATTACAAACAGCTGGGAATGTCTCCAAGCCAGAGTGGACTA
CTAGTAGGTATTCGTTACTTCATTGAATTCTGCAGTGCCCCCTTTTGGGGTGTAGTTGCAGACCGCTTTAAAAAAGGCAAAATTGTCCTCCTCTTTTCTCTTTTG
TGTTGGGTTTTATTCAACCTGGGCATTGGATTTGTCAAACCTGCTACCTTGAGATGTGTACCAAAGATTCGCCCAACAACTCACCCCACCAATGCAAGTCACCAG
TTAACTATCCTGCCAACAAATTCTTCCTTTACCTCTTTCCTCACCATATCACCAAAAATGCGTGAGAAAAGAAACCTTTTGGAAACAAGGCTCAATGTCTCAGAC
ACCGTTACTTTGCCAACAGCTCCAAACATGAACAGTGAACCCACTCTGCAGCCCCAGACAGGTGAAATTACTAACCGTATGATGGACTTGACTTTGAACTCAAGC
ACAGCAACCCCTGTCTCCCCAGGAAGCGTAACCAAGGAGACAACCACTGTTATTGTTACCACCACCAAATCTTTACCTTCTGACCAAGTCATGCTTGTTTATGAT
CAACAAGAAGTTGAAGCTATATTCTTGGTGATCTTGGTAGTTGTCATAATAGGAGAATTTTTCAGTGCCTCTTCTGTCACAATCGTAGACACGGTCACACTCCAG
TATCTGGGAAAACACAGAGATCGCTATGGGTTGCAGCGCATGTGGGGCTCCCTGGGCTGGGGCCTGGCGATGCTGTCTGTGGGCATCGGGATCGACTACACCCAC
ATCGAAGTGCTCATCGATGGAAAGGGGTGTAAGCCCCCCGAGTACAGGAATTACCAGATCGTCTTCATCGTCTTCGGCGTTCTCATGACCATGGCCTTGATCGTT
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>MFSD6|54842|protein
MADDKVAILTDDEEEQKRKYVLADPFNGISREPEPPSNETPSSTETSAIPEEEIDWIEKHCVKINNDLLISKVFYFFFYSAYGSLYPLLPVYYKQLGMSPSQSGL
LVGIRYFIEFCSAPFWGVVADRFKKGKIVLLFSLLCWVLFNLGIGFVKPATLRCVPKIRPTTHPTNASHQLTILPTNSSFTSFLTISPKMREKRNLLETRLNVSD
TVTLPTAPNMNSEPTLQPQTGEITNRMMDLTLNSSTATPVSPGSVTKETTTVIVTTTKSLPSDQVMLVYDQQEVEAIFLVILVVVIIGEFFSASSVTIVDTVTLQ
YLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIEVLIDGKGCKPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFKNDDSKGKEVEIPQVERNNSTESS
EETPTTTSHSQAFNFWDLIKLLCSVQYGSVLFVAWFMGFGYGFVFTFLYWHLEDLNGTTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYI
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MADDKVAILTDDEEEQKRKYVLADPFNGISREPEPPSNETPSSTETSAIPEEEIDWIEKHCVKINNDLLISKVFYFFFYSAYGSLYPLLPVYYKQLGMSPSQSGL
LVGIRYFIEFCSAPFWGVVADRFKKGKIVLLFSLLCWVLFNLGIGFVKPATLRCVPKIRPTTHPTNASHQLTILPTNSSFTSFLTISPKMREKRNLLETRLNVSD
TVTLPTAPNMNSEPTLQPQTGEITNRMMDLTLNSSTATPVSPGSVTKETTTVIVTTTKSLPSDQVMLVYDQQEVEAIFLVILVVVIIGEFFSASSVTIVDTVTLQ
YLGKHRDRYGLQRMWGSLGWGLAMLSVGIGIDYTHIEVLIDGKGCKPPEYRNYQIVFIVFGVLMTMALIVATQFRFRYNHFKNDDSKGKEVEIPQVERNNSTESS
EETPTTTSHSQAFNFWDLIKLLCSVQYGSVLFVAWFMGFGYGFVFTFLYWHLEDLNGTTTLFGVCSVLSHVSELTAYFFSHKLIELIGHIRVLYIGLACNTARYI
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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 | 1 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | ASD | - - |
- - | ||
| 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 | ||||||
| Gallagher, 2003 | - | Chromosomal analysis of G-band | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.