Evidence Details for SIT1
Basic Information Top
| Gene Symbol: | SIT1 ( MGC125908,MGC125909,MGC125910,RP11-331F9.5,SIT ) |
|---|---|
| Gene Full Name: | signaling threshold regulating transmembrane adaptor 1 |
| Band: | 9p13.3 |
| Quick Links | Entrez ID:27240; OMIM: 604964; Uniprot ID:SIT1_HUMAN; ENSEMBL ID: ENSG00000137078; HGNC ID: 17710 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SIT1|27240|nucleotide
ATGAACCAGGCTGACCCTCGGCTCAGAGCAGTGTGCTTGTGGACTCTCACATCTGCAGCCATGAGCAGAGGCGACAACTGCACGGATCTACTCGCACTGGGAATC
CCCTCCATAACCCAGGCCTGGGGACTGTGGGTCCTCTTAGGGGCTGTGACGCTGCTATTTCTCATCTCGCTGGCTGCACACTTGTCCCAGTGGACCAGGGGCCGG
AGCAGGAGCCATCCGGGGCAGGGACGCTCTGGAGAGTCTGTGGAAGAGGTCCCGCTGTATGGGAACCTGCATTATCTACAGACAGGACGGCTGTCTCAAGACCCA
GAGCCAGACCAGCAGGATCCAACTCTTGGAGGCCCTGCCAGGGCTGCAGAGGAGGTGATGTGCTATACCAGCCTGCAGCTGCGGCCTCCTCAGGGTCGGATCCCC
GGTCCTGGAACCCCCGTCAAGTACTCGGAGGTGGTGCTGGACTCTGAGCCAAAGTCCCAGGCCTCGGGCCCCGAGCCGGAGCTCTATGCCTCAGTATGTGCCCAG
ACCCGCAGGGCCCGGGCCTCCTTCCCGGATCAGGCCTATGCCAACAGCCAGCCTGCAGCCAGCTGA
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ATGAACCAGGCTGACCCTCGGCTCAGAGCAGTGTGCTTGTGGACTCTCACATCTGCAGCCATGAGCAGAGGCGACAACTGCACGGATCTACTCGCACTGGGAATC
CCCTCCATAACCCAGGCCTGGGGACTGTGGGTCCTCTTAGGGGCTGTGACGCTGCTATTTCTCATCTCGCTGGCTGCACACTTGTCCCAGTGGACCAGGGGCCGG
AGCAGGAGCCATCCGGGGCAGGGACGCTCTGGAGAGTCTGTGGAAGAGGTCCCGCTGTATGGGAACCTGCATTATCTACAGACAGGACGGCTGTCTCAAGACCCA
GAGCCAGACCAGCAGGATCCAACTCTTGGAGGCCCTGCCAGGGCTGCAGAGGAGGTGATGTGCTATACCAGCCTGCAGCTGCGGCCTCCTCAGGGTCGGATCCCC
GGTCCTGGAACCCCCGTCAAGTACTCGGAGGTGGTGCTGGACTCTGAGCCAAAGTCCCAGGCCTCGGGCCCCGAGCCGGAGCTCTATGCCTCAGTATGTGCCCAG
ACCCGCAGGGCCCGGGCCTCCTTCCCGGATCAGGCCTATGCCAACAGCCAGCCTGCAGCCAGCTGA
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>SIT1|27240|protein
MNQADPRLRAVCLWTLTSAAMSRGDNCTDLLALGIPSITQAWGLWVLLGAVTLLFLISLAAHLSQWTRGRSRSHPGQGRSGESVEEVPLYGNLHYLQTGRLSQDP
EPDQQDPTLGGPARAAEEVMCYTSLQLRPPQGRIPGPGTPVKYSEVVLDSEPKSQASGPEPELYASVCAQTRRARASFPDQAYANSQPAAS
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MNQADPRLRAVCLWTLTSAAMSRGDNCTDLLALGIPSITQAWGLWVLLGAVTLLFLISLAAHLSQWTRGRSRSHPGQGRSGESVEEVPLYGNLHYLQTGRLSQDP
EPDQQDPTLGGPARAAEEVMCYTSLQLRPPQGRIPGPGTPVKYSEVVLDSEPKSQASGPEPELYASVCAQTRRARASFPDQAYANSQPAAS
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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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (2) |
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 | ||||||
| Zwaag, 2009 | - | SNP microarray |  | | autism | - | - | - | - | 105 | 267 | 372 |
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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Baron, 2006_1 | America | human EBV-transformed lymphoblastoid cell lines | 3 (33.33%) | |  | - | autism | 3 (33.33%) |
1.33 | Up | 0.03 | |
| ||||||||||||
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.