Evidence Details for MRPS34
Basic Information Top
| Gene Symbol: | MRPS34 ( MGC2616,MRP-S12,MRP-S34,MRPS12 ) |
|---|---|
| Gene Full Name: | mitochondrial ribosomal protein S34 |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:65993; OMIM: 611994; Uniprot ID:RT34_HUMAN; ENSEMBL ID: ENSG00000074071; HGNC ID: 16618 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MRPS34|65993|nucleotide
ATGGCGCGGAAGAAGGTGCGTCCGCGGCTGATCGCGGAGCTGGCCCGCCGCGTGCGCGCCCTGCGGGAGCAACTGAACAGGCCGCGCGACTCCCAGCTCTACGCG
GTGGACTACGAGACCTTGACGCGGCCGTTCTCTGGACGCCGGCTGCCGGTCCGGGCCTGGGCCGACGTGCGCCGCGAGAGCCGCCTCTTGCAGCTGCTCGGCCGC
CTCCCGCTCTTCGGCCTGGGCCGCCTGGTCACGCGCAAGTCCTGGCTGTGGCAGCACGACGAGCCGTGCTACTGGCGCCTCACGCGGGTGCGGCCCGACTACACG
GCGCAGAACTTGGACCACGGGAAGGCCTGGGGCATCCTGACCTTCAAAGGGAAGACTGAGAGCGAGGCGCGGGAGATCGAACACGTCATGTACCATGACTGGCGG
CTGGTGCCCAAGCACGAGGAGGAGGCCTTCACCGCGTTCACGCCGGCGCCGGAAGACAGCCTGGCCTCCGTGCCGTACCCGCCTCTCCTCCGGGCCATGATTATC
GCAGAACGACAGAAAAATGGAGACACAAGCACCGAGGAGCCCATGCTGAATGTGCAGAGGATACGCATGGAACCCTGGGATTACCCTGCAAAACAGGAAGACAAA
GGAAGGGCCAAGGGCACCCCCGTCTAG
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ATGGCGCGGAAGAAGGTGCGTCCGCGGCTGATCGCGGAGCTGGCCCGCCGCGTGCGCGCCCTGCGGGAGCAACTGAACAGGCCGCGCGACTCCCAGCTCTACGCG
GTGGACTACGAGACCTTGACGCGGCCGTTCTCTGGACGCCGGCTGCCGGTCCGGGCCTGGGCCGACGTGCGCCGCGAGAGCCGCCTCTTGCAGCTGCTCGGCCGC
CTCCCGCTCTTCGGCCTGGGCCGCCTGGTCACGCGCAAGTCCTGGCTGTGGCAGCACGACGAGCCGTGCTACTGGCGCCTCACGCGGGTGCGGCCCGACTACACG
GCGCAGAACTTGGACCACGGGAAGGCCTGGGGCATCCTGACCTTCAAAGGGAAGACTGAGAGCGAGGCGCGGGAGATCGAACACGTCATGTACCATGACTGGCGG
CTGGTGCCCAAGCACGAGGAGGAGGCCTTCACCGCGTTCACGCCGGCGCCGGAAGACAGCCTGGCCTCCGTGCCGTACCCGCCTCTCCTCCGGGCCATGATTATC
GCAGAACGACAGAAAAATGGAGACACAAGCACCGAGGAGCCCATGCTGAATGTGCAGAGGATACGCATGGAACCCTGGGATTACCCTGCAAAACAGGAAGACAAA
GGAAGGGCCAAGGGCACCCCCGTCTAG
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>MRPS34|65993|protein
MARKKVRPRLIAELARRVRALREQLNRPRDSQLYAVDYETLTRPFSGRRLPVRAWADVRRESRLLQLLGRLPLFGLGRLVTRKSWLWQHDEPCYWRLTRVRPDYT
AQNLDHGKAWGILTFKGKTESEAREIEHVMYHDWRLVPKHEEEAFTAFTPAPEDSLASVPYPPLLRAMIIAERQKNGDTSTEEPMLNVQRIRMEPWDYPAKQEDK
GRAKGTPV
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MARKKVRPRLIAELARRVRALREQLNRPRDSQLYAVDYETLTRPFSGRRLPVRAWADVRRESRLLQLLGRLPLFGLGRLVTRKSWLWQHDEPCYWRLTRVRPDYT
AQNLDHGKAWGILTFKGKTESEAREIEHVMYHDWRLVPKHEEEAFTAFTPAPEDSLASVPYPPLLRAMIIAERQKNGDTSTEEPMLNVQRIRMEPWDYPAKQEDK
GRAKGTPV
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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) | 0 (2) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | |  | autism | 115 | - | 115 | - | - | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low 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.