Evidence Details for SFT2D1
Basic Information Top
| Gene Symbol: | SFT2D1 ( C6orf83,MGC19825,pRGR1 ) |
|---|---|
| Gene Full Name: | SFT2 domain containing 1 |
| Band: | 6q27 |
| Quick Links | Entrez ID:113402; OMIM: NA; Uniprot ID:SFT2A_HUMAN; ENSEMBL ID: ENSG00000198818; HGNC ID: 21102 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SFT2D1|113402|nucleotide
ATGGAGAAGCTGCGGCGAGTCCTGAGCGGCCAGGACGACGAGGAGCAGGGCCTGACTGCGCAGGTCCTGGATGCCTCATCCCTTAGTTTCAACACCAGATTGAAA
TGGTTTGCCATCTGCTTCGTATGTGGCGTTTTCTTTTCTATTCTTGGAACTGGATTGCTGTGGCTTCCGGGCGGCATAAAGCTTTTTGCAGTGTTTTATACCCTC
GGCAATCTTGCTGCGTTAGCCAGTACATGCTTTTTAATGGGACCTGTGAAGCAACTGAAGAAAATGTTTGAAGCAACAAGATTGCTTGCAACAATTGTTATGCTT
TTGTGTTTCATATTTACCCTGTGTGCTGCTCTTTGGTGGCATAAGAAGGGACTGGCTGTGTTATTCTGCATATTGCAGTTCTTGTCAATGACCTGGTATAGCCTG
TCATACATCCCATATGCAAGGGATGCAGTTATTAAATGCTGTTCTTCTCTCCTAAGTTGA
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ATGGAGAAGCTGCGGCGAGTCCTGAGCGGCCAGGACGACGAGGAGCAGGGCCTGACTGCGCAGGTCCTGGATGCCTCATCCCTTAGTTTCAACACCAGATTGAAA
TGGTTTGCCATCTGCTTCGTATGTGGCGTTTTCTTTTCTATTCTTGGAACTGGATTGCTGTGGCTTCCGGGCGGCATAAAGCTTTTTGCAGTGTTTTATACCCTC
GGCAATCTTGCTGCGTTAGCCAGTACATGCTTTTTAATGGGACCTGTGAAGCAACTGAAGAAAATGTTTGAAGCAACAAGATTGCTTGCAACAATTGTTATGCTT
TTGTGTTTCATATTTACCCTGTGTGCTGCTCTTTGGTGGCATAAGAAGGGACTGGCTGTGTTATTCTGCATATTGCAGTTCTTGTCAATGACCTGGTATAGCCTG
TCATACATCCCATATGCAAGGGATGCAGTTATTAAATGCTGTTCTTCTCTCCTAAGTTGA
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>SFT2D1|113402|protein
MEKLRRVLSGQDDEEQGLTAQVLDASSLSFNTRLKWFAICFVCGVFFSILGTGLLWLPGGIKLFAVFYTLGNLAALASTCFLMGPVKQLKKMFEATRLLATIVML
LCFIFTLCAALWWHKKGLAVLFCILQFLSMTWYSLSYIPYARDAVIKCCSSLLS
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MEKLRRVLSGQDDEEQGLTAQVLDASSLSFNTRLKWFAICFVCGVFFSILGTGLLWLPGGIKLFAVFYTLGNLAALASTCFLMGPVKQLKKMFEATRLLATIVML
LCFIFTLCAALWWHKKGLAVLFCILQFLSMTWYSLSYIPYARDAVIKCCSSLLS
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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 (0) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV 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 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
1.12508 | Up | 5.78915 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.