Evidence Details for RPS6KA3
Basic Information Top
| Gene Symbol: | RPS6KA3 ( CLS,HU-3,ISPK-1,MAPKAPK1B,MRX19,RSK,RSK2,S6K-alpha3,p90-RSK2,pp90RSK2 ) |
|---|---|
| Gene Full Name: | ribosomal protein S6 kinase, 90kDa, polypeptide 3 |
| Band: | Xp22.12 |
| Quick Links | Entrez ID:6197; OMIM: 300075; Uniprot ID:KS6A3_HUMAN; ENSEMBL ID: ENSG00000177189; HGNC ID: 10432 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RPS6KA3|6197|nucleotide
ATGCCGCTGGCGCAGCTGGCGGACCCGTGGCAGAAGATGGCTGTGGAGAGCCCGTCCGACAGCGCTGAGAATGGACAGCAAATTATGGATGAACCTATGGGAGAG
GAGGAGATTAACCCACAAACTGAAGAAGTCAGTATCAAAGAAATTGCAATCACACATCATGTAAAGGAAGGACATGAAAAGGCAGATCCTTCCCAGTTTGAACTT
TTAAAAGTATTAGGGCAGGGATCATTTGGAAAGGTTTTCTTAGTTAAAAAAATCTCAGGCTCTGATGCTAGGCAGCTTTATGCCATGAAGGTATTGAAGAAGGCC
ACACTGAAAGTTCGAGACCGAGTTCGGACAAAAATGGAACGTGATATCTTGGTAGAGGTTAATCATCCTTTTATTGTCAAGTTGCATTATGCTTTTCAAACTGAA
GGGAAGTTGTATCTTATTTTGGATTTTCTCAGGGGAGGAGATTTGTTTACACGCTTATCCAAAGAGGTGATGTTCACAGAAGAAGATGTCAAATTCTACTTGGCT
GAACTTGCACTTGCTTTAGACCATCTACATAGCCTGGGAATAATTTATAGAGACTTAAAACCAGAAAATATACTTCTTGATGAAGAAGGTCACATCAAGTTAACA
GATTTCGGCCTAAGTAAAGAGTCTATTGACCATGAAAAGAAGGCATATTCTTTTTGTGGAACTGTGGAGTATATGGCTCCAGAAGTAGTTAATCGTCGAGGTCAT
ACTCAGAGTGCTGACTGGTGGTCTTTTGGTGTGTTAATGTTTGAAATGCTTACTGGTACACTCCCTTTCCAAGGAAAAGATCGAAAAGAAACAATGACTATGATT
CTTAAAGCCAAACTTGGAATGCCACAGTTTTTGAGTCCTGAAGCGCAGAGTCTTTTACGAATGCTTTTCAAGCGAAATCCTGCAAACAGATTAGGTGCAGGACCA
GATGGAGTTGAAGAAATTAAAAGACATTCATTTTTCTCAACGATAGACTGGAATAAACTGTATAGAAGAGAAATTCATCCGCCATTTAAACCTGCAACGGGCAGG
CCTGAAGATACATTCTATTTTGATCCTGAGTTTACTGCAAAAACTCCCAAAGATTCACCTGGCATTCCACCTAGTGCTAATGCACATCAGCTTTTTCGGGGGTTT
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ATGCCGCTGGCGCAGCTGGCGGACCCGTGGCAGAAGATGGCTGTGGAGAGCCCGTCCGACAGCGCTGAGAATGGACAGCAAATTATGGATGAACCTATGGGAGAG
GAGGAGATTAACCCACAAACTGAAGAAGTCAGTATCAAAGAAATTGCAATCACACATCATGTAAAGGAAGGACATGAAAAGGCAGATCCTTCCCAGTTTGAACTT
TTAAAAGTATTAGGGCAGGGATCATTTGGAAAGGTTTTCTTAGTTAAAAAAATCTCAGGCTCTGATGCTAGGCAGCTTTATGCCATGAAGGTATTGAAGAAGGCC
ACACTGAAAGTTCGAGACCGAGTTCGGACAAAAATGGAACGTGATATCTTGGTAGAGGTTAATCATCCTTTTATTGTCAAGTTGCATTATGCTTTTCAAACTGAA
GGGAAGTTGTATCTTATTTTGGATTTTCTCAGGGGAGGAGATTTGTTTACACGCTTATCCAAAGAGGTGATGTTCACAGAAGAAGATGTCAAATTCTACTTGGCT
GAACTTGCACTTGCTTTAGACCATCTACATAGCCTGGGAATAATTTATAGAGACTTAAAACCAGAAAATATACTTCTTGATGAAGAAGGTCACATCAAGTTAACA
GATTTCGGCCTAAGTAAAGAGTCTATTGACCATGAAAAGAAGGCATATTCTTTTTGTGGAACTGTGGAGTATATGGCTCCAGAAGTAGTTAATCGTCGAGGTCAT
ACTCAGAGTGCTGACTGGTGGTCTTTTGGTGTGTTAATGTTTGAAATGCTTACTGGTACACTCCCTTTCCAAGGAAAAGATCGAAAAGAAACAATGACTATGATT
CTTAAAGCCAAACTTGGAATGCCACAGTTTTTGAGTCCTGAAGCGCAGAGTCTTTTACGAATGCTTTTCAAGCGAAATCCTGCAAACAGATTAGGTGCAGGACCA
GATGGAGTTGAAGAAATTAAAAGACATTCATTTTTCTCAACGATAGACTGGAATAAACTGTATAGAAGAGAAATTCATCCGCCATTTAAACCTGCAACGGGCAGG
CCTGAAGATACATTCTATTTTGATCCTGAGTTTACTGCAAAAACTCCCAAAGATTCACCTGGCATTCCACCTAGTGCTAATGCACATCAGCTTTTTCGGGGGTTT
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>RPS6KA3|6197|protein
MPLAQLADPWQKMAVESPSDSAENGQQIMDEPMGEEEINPQTEEVSIKEIAITHHVKEGHEKADPSQFELLKVLGQGSFGKVFLVKKISGSDARQLYAMKVLKKA
TLKVRDRVRTKMERDILVEVNHPFIVKLHYAFQTEGKLYLILDFLRGGDLFTRLSKEVMFTEEDVKFYLAELALALDHLHSLGIIYRDLKPENILLDEEGHIKLT
DFGLSKESIDHEKKAYSFCGTVEYMAPEVVNRRGHTQSADWWSFGVLMFEMLTGTLPFQGKDRKETMTMILKAKLGMPQFLSPEAQSLLRMLFKRNPANRLGAGP
DGVEEIKRHSFFSTIDWNKLYRREIHPPFKPATGRPEDTFYFDPEFTAKTPKDSPGIPPSANAHQLFRGFSFVAITSDDESQAMQTVGVHSIVQQLHRNSIQFTD
GYEVKEDIGVGSYSVCKRCIHKATNMEFAVKIIDKSKRDPTEEIEILLRYGQHPNIITLKDVYDDGKYVYVVTELMKGGELLDKILRQKFFSEREASAVLFTITK
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MPLAQLADPWQKMAVESPSDSAENGQQIMDEPMGEEEINPQTEEVSIKEIAITHHVKEGHEKADPSQFELLKVLGQGSFGKVFLVKKISGSDARQLYAMKVLKKA
TLKVRDRVRTKMERDILVEVNHPFIVKLHYAFQTEGKLYLILDFLRGGDLFTRLSKEVMFTEEDVKFYLAELALALDHLHSLGIIYRDLKPENILLDEEGHIKLT
DFGLSKESIDHEKKAYSFCGTVEYMAPEVVNRRGHTQSADWWSFGVLMFEMLTGTLPFQGKDRKETMTMILKAKLGMPQFLSPEAQSLLRMLFKRNPANRLGAGP
DGVEEIKRHSFFSTIDWNKLYRREIHPPFKPATGRPEDTFYFDPEFTAKTPKDSPGIPPSANAHQLFRGFSFVAITSDDESQAMQTVGVHSIVQQLHRNSIQFTD
GYEVKEDIGVGSYSVCKRCIHKATNMEFAVKIIDKSKRDPTEEIEILLRYGQHPNIITLKDVYDDGKYVYVVTELMKGGELLDKILRQKFFSEREASAVLFTITK
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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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 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 | ||||||
| Vazna, 2010 | Czech | aCGH |  |  | ASD | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top