Evidence Details for MRPS2
Basic Information Top
| Gene Symbol: | MRPS2 ( MRP-S2,S2mt ) |
|---|---|
| Gene Full Name: | mitochondrial ribosomal protein S2 |
| Band: | 9q34.3 |
| Quick Links | Entrez ID:51116; OMIM: 611971; Uniprot ID:RT02_HUMAN; ENSEMBL ID: ENSG00000122140; HGNC ID: 14495 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MRPS2|51116|nucleotide
ATGGCGACATCCTCGGCCGCGCTGCCCCGAATACTCGGCGCGGGTGCCCGGGCCCCGTCGCGCTGGTTGGGCTTTCTCGGGAAGGCGACCCCCCGGCCTGCTCGG
CCGAGCCGCAGGACGCTTGGAAGCGCGACGGCCCTTATGATCCGCGAGTCGGAGGACAGCACCGATTTCAACGACAAGATTTTGAATGAGCCCCTCAAGCACTCT
GACTTCTTCAATGTCAAGGAACTGTTTTCCGTGAGAAGCCTCTTCGATGCCCGAGTCCATCTGGGACACAAAGCTGGCTGTCGGCACAGGTTTATGGAGCCGTAC
ATCTTTGGGAGCCGCCTGGACCACGACATCATCGACCTGGAACAGACAGCCACGCACCTCCAGCTGGCCTTGAACTTCACCGCCCACATGGCCTACCGCAAGGGC
ATCATCTTGTTTATAAGCCGCAACCGGCAGTTCTCGTACCTGATTGAGAACATGGCCCGTGACTGTGGCGAGTACGCCCACACTCGCTACTTCAGGGGCGGCATG
CTGACCAACGCGCGCCTCCTCTTTGGCCCCACGGTCCGCCTGCCGGACCTCATCATCTTCCTGCACACGCTCAACAACATCTTTGAGCCACACGTGGCCGTGAGA
GACGCAGCCAAGATGAACATCCCCACAGTGGGCATCGTGGACACCAACTGCAACCCCTGCCTCATCACCTACCCTGTACCCGGCAATGACGACTCTCCGCTGGCT
GTGCACCTCTACTGCAGGCTCTTCCAGACGGCCATCACCCGGGCCAAGGAGAAGCGGCAGCAGGTTGAGGCTCTCTATCGCCTGCAGGGCCAGAAGGAGCCCGGG
GACCAGGGGCCAGCCCACCCTCCTGGGGCTGACATGAGCCATTCCCTGTGA
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ATGGCGACATCCTCGGCCGCGCTGCCCCGAATACTCGGCGCGGGTGCCCGGGCCCCGTCGCGCTGGTTGGGCTTTCTCGGGAAGGCGACCCCCCGGCCTGCTCGG
CCGAGCCGCAGGACGCTTGGAAGCGCGACGGCCCTTATGATCCGCGAGTCGGAGGACAGCACCGATTTCAACGACAAGATTTTGAATGAGCCCCTCAAGCACTCT
GACTTCTTCAATGTCAAGGAACTGTTTTCCGTGAGAAGCCTCTTCGATGCCCGAGTCCATCTGGGACACAAAGCTGGCTGTCGGCACAGGTTTATGGAGCCGTAC
ATCTTTGGGAGCCGCCTGGACCACGACATCATCGACCTGGAACAGACAGCCACGCACCTCCAGCTGGCCTTGAACTTCACCGCCCACATGGCCTACCGCAAGGGC
ATCATCTTGTTTATAAGCCGCAACCGGCAGTTCTCGTACCTGATTGAGAACATGGCCCGTGACTGTGGCGAGTACGCCCACACTCGCTACTTCAGGGGCGGCATG
CTGACCAACGCGCGCCTCCTCTTTGGCCCCACGGTCCGCCTGCCGGACCTCATCATCTTCCTGCACACGCTCAACAACATCTTTGAGCCACACGTGGCCGTGAGA
GACGCAGCCAAGATGAACATCCCCACAGTGGGCATCGTGGACACCAACTGCAACCCCTGCCTCATCACCTACCCTGTACCCGGCAATGACGACTCTCCGCTGGCT
GTGCACCTCTACTGCAGGCTCTTCCAGACGGCCATCACCCGGGCCAAGGAGAAGCGGCAGCAGGTTGAGGCTCTCTATCGCCTGCAGGGCCAGAAGGAGCCCGGG
GACCAGGGGCCAGCCCACCCTCCTGGGGCTGACATGAGCCATTCCCTGTGA
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>MRPS2|51116|protein
MATSSAALPRILGAGARAPSRWLGFLGKATPRPARPSRRTLGSATALMIRESEDSTDFNDKILNEPLKHSDFFNVKELFSVRSLFDARVHLGHKAGCRHRFMEPY
IFGSRLDHDIIDLEQTATHLQLALNFTAHMAYRKGIILFISRNRQFSYLIENMARDCGEYAHTRYFRGGMLTNARLLFGPTVRLPDLIIFLHTLNNIFEPHVAVR
DAAKMNIPTVGIVDTNCNPCLITYPVPGNDDSPLAVHLYCRLFQTAITRAKEKRQQVEALYRLQGQKEPGDQGPAHPPGADMSHSL
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MATSSAALPRILGAGARAPSRWLGFLGKATPRPARPSRRTLGSATALMIRESEDSTDFNDKILNEPLKHSDFFNVKELFSVRSLFDARVHLGHKAGCRHRFMEPY
IFGSRLDHDIIDLEQTATHLQLALNFTAHMAYRKGIILFISRNRQFSYLIENMARDCGEYAHTRYFRGGMLTNARLLFGPTVRLPDLIIFLHTLNNIFEPHVAVR
DAAKMNIPTVGIVDTNCNPCLITYPVPGNDDSPLAVHLYCRLFQTAITRAKEKRQQVEALYRLQGQKEPGDQGPAHPPGADMSHSL
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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 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (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 | ||||||
| Gregory, 2009 | USA | aCGH |  |  | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top