Evidence Details for RPS27L
Basic Information Top
| Gene Symbol: | RPS27L ( - ) |
|---|---|
| Gene Full Name: | ribosomal protein S27-like |
| Band: | 15q22.2 |
| Quick Links | Entrez ID:51065; OMIM: 612055; Uniprot ID:RS27L_HUMAN; ENSEMBL ID: ENSG00000185088; HGNC ID: 18476 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RPS27L|51065|nucleotide
ATGCCTTTGGCTAGAGATTTACTACATCCGTCCTTGGAAGAGGAAAAGAAAAAACATAAAAAGAAACGCCTAGTACAAAGTCCAAATTCTTACTTTATGGATGTA
AAATGTCCAGGTTGCTACAAGATCACCACGGTTTTCAGCCATGCTCAGACAGTGGTTCTTTGTGTAGGTTGTTCAACAGTGTTGTGCCAGCCTACAGGAGGAAAG
GCCAGACTCACAGAAGGGTGTTCATTTAGAAGAAAGCAACACTAA
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ATGCCTTTGGCTAGAGATTTACTACATCCGTCCTTGGAAGAGGAAAAGAAAAAACATAAAAAGAAACGCCTAGTACAAAGTCCAAATTCTTACTTTATGGATGTA
AAATGTCCAGGTTGCTACAAGATCACCACGGTTTTCAGCCATGCTCAGACAGTGGTTCTTTGTGTAGGTTGTTCAACAGTGTTGTGCCAGCCTACAGGAGGAAAG
GCCAGACTCACAGAAGGGTGTTCATTTAGAAGAAAGCAACACTAA
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>RPS27L|51065|protein
MPLARDLLHPSLEEEKKKHKKKRLVQSPNSYFMDVKCPGCYKITTVFSHAQTVVLCVGCSTVLCQPTGGKARLTEGCSFRRKQH
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MPLARDLLHPSLEEEKKKHKKKRLVQSPNSYFMDVKCPGCYKITTVFSHAQTVVLCVGCSTVLCQPTGGKARLTEGCSFRRKQH
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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 (3) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 5 (5) |
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 | ||||||
| Smith, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Kuwano, 2011_2 | Japan | Mother with ASD children | 21 (100.00%) | - | - | - | - | 21 (100.00%) |
-2.17 | Down | 0.00201 | |
| ||||||||||||
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.