Evidence Details for RPS16
Basic Information Top
Gene Symbol: | RPS16 ( - ) |
---|---|
Gene Full Name: | ribosomal protein S16 |
Band: | 19q13.1 |
Quick Links | Entrez ID:6217; OMIM: 603675; Uniprot ID:RS16_HUMAN; ENSEMBL ID: ENSG00000105193; HGNC ID: 10396 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>RPS16|6217|nucleotide
ATGCCGTCCAAGGGCCCGCTGCAGTCTGTGCAGGTCTTCGGACGCAAGAAGACAGCGACAGCTGTGGCGCACTGCAAACGCGGCAATGGTCTCATCAAGGTGAAC
GGGCGGCCCCTGGAGATGATTGAGCCGCGCACGCTACAGTACAAGCTGCTGGAGCCAGTTCTGCTTCTCGGCAAGGAGCGATTTGCTGGTGTAGACATCCGTGTC
CGTGTAAAGGGTGGTGGTCACGTGGCCCAGATTTATGCTATCCGTCAGTCCATCTCCAAAGCCCTGGTGGCCTATTACCAGAAATATGTGGATGAGGCTTCCAAG
AAGGAGATCAAAGACATCCTCATCCAGTATGACCGGACCCTGCTGGTAGCTGACCCTCGTCGCTGCGAGTCCAAAAAGTTTGGAGGCCCTGGTGCCCGCGCTCGC
TACCAGAAATCCTACCGATAA
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ATGCCGTCCAAGGGCCCGCTGCAGTCTGTGCAGGTCTTCGGACGCAAGAAGACAGCGACAGCTGTGGCGCACTGCAAACGCGGCAATGGTCTCATCAAGGTGAAC
GGGCGGCCCCTGGAGATGATTGAGCCGCGCACGCTACAGTACAAGCTGCTGGAGCCAGTTCTGCTTCTCGGCAAGGAGCGATTTGCTGGTGTAGACATCCGTGTC
CGTGTAAAGGGTGGTGGTCACGTGGCCCAGATTTATGCTATCCGTCAGTCCATCTCCAAAGCCCTGGTGGCCTATTACCAGAAATATGTGGATGAGGCTTCCAAG
AAGGAGATCAAAGACATCCTCATCCAGTATGACCGGACCCTGCTGGTAGCTGACCCTCGTCGCTGCGAGTCCAAAAAGTTTGGAGGCCCTGGTGCCCGCGCTCGC
TACCAGAAATCCTACCGATAA
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>RPS16|6217|protein
MPSKGPLQSVQVFGRKKTATAVAHCKRGNGLIKVNGRPLEMIEPRTLQYKLLEPVLLLGKERFAGVDIRVRVKGGGHVAQIYAIRQSISKALVAYYQKYVDEASK
KEIKDILIQYDRTLLVADPRRCESKKFGGPGARARYQKSYR
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MPSKGPLQSVQVFGRKKTATAVAHCKRGNGLIKVNGRPLEMIEPRTLQYKLLEPVLLLGKERFAGVDIRVRVKGGGHVAQIYAIRQSISKALVAYYQKYVDEASK
KEIKDILIQYDRTLLVADPRRCESKKFGGPGARARYQKSYR
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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 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV 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 Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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