Q9UK32
SS
Gene name |
RPS6KA6 (RSK4) |
Protein name |
Ribosomal protein S6 kinase alpha-6 |
Names |
S6K-alpha-6 , EC 2.7.11.1 , 90 kDa ribosomal protein S6 kinase 6 , p90-RSK 6 , p90RSK6 , Ribosomal S6 kinase 4 , RSK-4 , pp90RSK4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27330 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
RSK1 plays an important role in many cellular processes. RSK1 is expressed ubiquitously in almost all human tissues, predominantly in kidney, lung and pancreas.The crystal structure of human RSK1 C-terminal kinase domain (CTKD) has been reported. The structure indicates that the autoinhibition of the CTKD is caused by an α-helix occupying the substrate-binding groove.The structure shows autoinhibition of RSK1 CTKD by its αL helix, suggesting that ERK1/2 may activate RSK1 by phosphorylating RSK1 followed by the displacement of αL from its inhibitory position. A similar regulatory mechanism has been observed previously in MAPKAP kinase 2 and murine RSK2 CTKD. The atomic structure of human RSK1 CTKD is of great interest in order to understand the mechanism of RSK activation and for structure-based anticancer-drug development.
Autoinhibitory domains (AIDs)
Target domain |
424-715 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
215-238 (Activation loop from InterPro)
Target domain |
73-391 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
564-587 (Activation loop from InterPro)
Target domain |
426-683 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Li D et al. (2012) "Structural basis for the autoinhibition of the C-terminal kinase domain of human RSK1", Acta crystallographica. Section D, Biological crystallography, 68, 680-5
- Li D et al. (2013) "The prometastatic ribosomal S6 kinase 2-cAMP response element-binding protein (RSK2-CREB) signaling pathway up-regulates the actin-binding protein fascin-1 to promote tumor metastasis", The Journal of biological chemistry, 288, 32528-32538
- Malakhova M et al. (2008) "Structural basis for activation of the autoinhibitory C-terminal kinase domain of p90 RSK2", Nature structural & molecular biology, 15, 112-3
- Poteet-Smith CE et al. (1999) "Generation of constitutively active p90 ribosomal S6 kinase in vivo. Implications for the mitogen-activated protein kinase-activated protein kinase family", The Journal of biological chemistry, 274, 22135-8
Autoinhibited structure
Activated structure
4 structures for Q9UK32
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6G76 | X-ray | 300 A | A/B | 48-349 | PDB |
| 6G77 | X-ray | 250 A | A/B | 48-349 | PDB |
| 6G78 | X-ray | 250 A | A/B | 48-349 | PDB |
| AF-Q9UK32-F1 | Predicted | AlphaFoldDB |
529 variants for Q9UK32
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs2035949062 | 3 | P>A | No | Ensembl | |
| rs762798710 | 3 | P>Q | No |
ExAC gnomAD |
|
| rs1429254656 | 5 | A>P | No |
TOPMed gnomAD |
|
| rs1429254656 | 5 | A>T | No |
TOPMed gnomAD |
|
| TCGA novel | 6 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759515878 | 9 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs765315066 | 9 | E>Q | No |
ExAC gnomAD |
|
| rs776071473 | 10 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs746652503 | 11 | W>* | No |
ExAC TOPMed gnomAD |
|
| rs746652503 | 11 | W>C | No |
ExAC TOPMed gnomAD |
|
| rs139134408 | 13 | R>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3723429 rs139134408 |
13 | R>G | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs1184140686 | 13 | R>Q | No |
TOPMed gnomAD |
|
| rs150753598 | 14 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs780370645 | 14 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1602499429 | 15 | M>I | No | Ensembl | |
| rs756650484 | 16 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1466781874 | 20 | G>D | No |
TOPMed gnomAD |
|
| rs781150184 | 20 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1365285471 | 21 | G>D | No | TOPMed | |
| rs1162253294 | 21 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2035947925 | 22 | G>V | No | gnomAD | |
| rs1204851154 | 23 | A>P | No |
TOPMed gnomAD |
|
| rs1272749629 | 24 | S>N | No | gnomAD | |
| rs1272749629 | 24 | S>T | No | gnomAD | |
| rs950520650 | 26 | G>C | No | Ensembl | |
| rs777970241 | 28 | V>I | No |
ExAC gnomAD |
|
| rs758761378 | 29 | N>D | No | ExAC | |
| rs752953085 | 30 | G>R | No |
ExAC TOPMed |
|
| rs2035565584 | 30 | G>V | No | gnomAD | |
| rs2035565523 | 31 | L>H | No |
TOPMed gnomAD |
|
| TCGA novel | 31 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1322814646 | 33 | M>I | No | Ensembl | |
| rs1291212038 | 33 | M>V | No | gnomAD | |
| rs1216218133 | 34 | V>A | No | TOPMed | |
| rs1013714117 | 35 | D>E | No | TOPMed | |
| rs758472902 | 35 | D>G | No | Ensembl | |
| rs2035565267 | 35 | D>H | No | TOPMed | |
| rs1263060274 | 37 | P>L | No | gnomAD | |
| TCGA novel | 38 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3563777 | 39 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs372376382 | 40 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs368124048 | 41 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 41 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1305128818 | 42 | E>V | No | gnomAD | |
| rs1269185387 | 44 | D>G | No | TOPMed | |
| rs753749917 | 44 | D>H | No |
ExAC gnomAD |
|
| COSM1126030 | 44 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2035564691 | 45 | S>Y | No | gnomAD | |
| rs2035564625 | 46 | C>* | No | Ensembl | |
| rs1481100615 | 47 | H>R | No | Ensembl | |
| rs1473162186 | 48 | D>E | No | TOPMed | |
| TCGA novel | 48 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1485546834 | 52 | V>I | No | gnomAD | |
| rs2147584258 | 54 | E>* | No | 1000Genomes | |
| rs2035413557 | 56 | P>A | No | Ensembl | |
| rs367763728 | 57 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2035413387 | 58 | T>I | No | gnomAD | |
| COSM1469708 | 60 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 61 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2035413307 | 63 | E>Q | No |
TOPMed gnomAD |
|
| rs772219282 | 64 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs772219282 | 64 | G>V | No |
ExAC TOPMed gnomAD |
|
| COSM6187988 | 65 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM458139 | 66 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4111348 | 68 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1335765459 | 68 | A>V | No | gnomAD | |
| rs1324238698 | 72 | Q>* | No | TOPMed | |
| rs1324238698 | 72 | Q>K | No | TOPMed | |
| rs1328036883 | 73 | F>L | No | gnomAD | |
| rs1293553532 | 74 | E>D | No | gnomAD | |
| TCGA novel | 75 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1296197879 | 75 | L>F | No | gnomAD | |
| rs2035411947 | 79 | L>I | No | TOPMed | |
| COSM233280 | 85 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 87 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1234938393 | 95 | G>D | No |
TOPMed gnomAD |
|
| rs781063407 | 95 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1234938393 | 95 | G>V | No |
TOPMed gnomAD |
|
| rs2147553155 | 96 | P>S | No | Ensembl | |
| COSM6187989 | 100 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1463346264 | 101 | L>F | No | Ensembl | |
| rs78275925 | 106 | V>L | No | gnomAD | |
| rs1443874429 | 107 | L>F | No |
TOPMed gnomAD |
|
| rs1327824494 | 108 | K>I | No | gnomAD | |
| rs757167389 | 108 | K>Q | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 108 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6187990 | 109 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771243958 | 109 | K>Q | No | 1000Genomes | |
| TCGA novel | 109 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM197281 rs756096568 |
110 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs756096568 COSM1469707 |
110 | A>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs2035230171 | 111 | S>C | No | TOPMed | |
| COSM327882 | 111 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2035230171 | 111 | S>Y | No | TOPMed | |
|
rs768602159 COSM5898688 |
115 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2035211712 | 115 | R>Q | No | Ensembl | |
| rs1324862701 | 116 | D>N | No | gnomAD | |
| rs2035211561 | 117 | R>G | No | Ensembl | |
| rs1233581608 | 118 | V>I | No | TOPMed | |
|
rs1569233608 COSM1126029 |
119 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM3845483 rs1278582213 |
119 | R>W | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2035211255 | 120 | T>K | No | Ensembl | |
| rs1569233600 | 121 | K>R | No | Ensembl | |
| TCGA novel | 124 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2035211012 | 129 | E>A | No | TOPMed | |
| rs1315208363 | 130 | V>L | No | gnomAD | |
| rs775537926 | 131 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1415829838 | 131 | N>S | No | gnomAD | |
| rs4275364 | 132 | H>P | No | Ensembl | |
| COSM3563775 | 132 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1332838159 | 135 | I>V | No | gnomAD | |
|
VAR_040637 COSM12962 |
140 | Y>C | Variant assessed as Somatic; MODERATE impact. a lung large cell carcinoma sample; somatic mutation [NCI-TCGA, UniProt] | No |
NCI-TCGA Cosmic UniProt |
| TCGA novel | 142 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2035184152 | 144 | T>S | No | TOPMed | |
| rs2035183771 | 152 | L>M | No |
TOPMed gnomAD |
|
| rs1189487594 | 153 | D>N | No |
TOPMed gnomAD |
|
| COSM1126028 | 157 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs369211354 | 159 | D>N | No |
ESP ExAC gnomAD |
|
| TCGA novel | 159 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774660554 | 166 | K>E | No |
ExAC gnomAD |
|
| rs774660554 | 166 | K>Q | No |
ExAC gnomAD |
|
| TCGA novel | 167 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM758270 rs1347850032 |
168 | V>F | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2034970987 | 169 | L>M | No | Ensembl | |
| rs1471750613 | 170 | F>C | No |
TOPMed gnomAD |
|
| rs770657822 | 170 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs2034970679 | 171 | T>R | No | Ensembl | |
| COSM1126026 | 173 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1418696344 | 174 | D>G | No | gnomAD | |
| rs1390560032 | 174 | D>N | No |
TOPMed gnomAD |
|
| rs1390560032 | 174 | D>Y | No |
TOPMed gnomAD |
|
| rs746952222 | 175 | V>A | No |
ExAC gnomAD |
|
| rs777529935 | 178 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs755377318 | 180 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs755377318 | 180 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs949995666 | 183 | A>T | No | TOPMed | |
| COSM5001057 | 184 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1207039844 | 185 | A>G | No | gnomAD | |
| rs1356980974 | 187 | D>H | No |
TOPMed gnomAD |
|
| rs1327775946 | 187 | D>V | No | gnomAD | |
| COSM5948799 | 188 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1126025 | 197 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4931911 | 199 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 212 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM289603 | 214 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4928000 | 216 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1126024 | 217 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3800784 | 221 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778199784 | 223 | S>P | No |
ExAC gnomAD |
|
| TCGA novel | 224 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1363706785 | 227 | E>D | No |
TOPMed gnomAD |
|
| rs1375969301 | 228 | K>E | No | gnomAD | |
| COSM1126023 | 228 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1371623260 | 228 | K>R | No |
TOPMed gnomAD |
|
| COSM3563770 | 230 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM488671 | 232 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 235 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 237 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758887149 | 237 | V>L | No |
ExAC gnomAD |
|
| TCGA novel | 239 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753190940 | 242 | P>H | No |
ExAC gnomAD |
|
| rs2147472875 | 246 | N>S | No | Ensembl | |
| COSM1126022 | 248 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs960023967 | 248 | R>K | No |
TOPMed gnomAD |
|
| TCGA novel | 249 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1418167462 | 251 | S>P | No | gnomAD | |
| rs865795437 | 254 | A>S | No | Ensembl | |
| rs895800970 | 256 | W>C | No | TOPMed | |
| TCGA novel | 256 | W>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_040638 | 258 | S>T | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
| rs765307193 | 259 | Y>C | No |
ExAC gnomAD |
|
| COSM3563769 | 260 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2034637279 | 260 | G>D | No | TOPMed | |
| rs759574377 | 262 | L>P | No |
ExAC gnomAD |
|
| rs1192729930 | 263 | M>L | No | gnomAD | |
| TCGA novel | 265 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6119669 | 266 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 267 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 268 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147466485 | 269 | G>D | No | Ensembl | |
| rs745521030 | 270 | T>I | No |
ExAC gnomAD |
|
| rs1187161027 | 270 | T>S | No | gnomAD | |
| rs2034589190 | 274 | Q>H | No | Ensembl | |
| rs1359891061 | 276 | K>N | No | TOPMed | |
| TCGA novel | 276 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1215790976 | 278 | R>G | No | gnomAD | |
| COSM1126021 | 278 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 280 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2034588977 | 281 | T>N | No | gnomAD | |
| rs372508965 | 283 | N>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2034588804 | 283 | N>S | No | TOPMed | |
| rs2034588724 | 285 | I>V | No | Ensembl | |
| rs2034588638 | 286 | L>F | No | TOPMed | |
| rs975267913 | 288 | A>E | No |
TOPMed gnomAD |
|
| rs2034584030 | 288 | A>T | No | Ensembl | |
| rs975267913 | 288 | A>V | No |
TOPMed gnomAD |
|
| rs1266664016 | 289 | K>E | No | TOPMed | |
| COSM1264579 | 290 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2147465570 | 290 | L>V | No | Ensembl | |
| rs1602423504 | 292 | M>I | No | Ensembl | |
| COSM4854600 | 299 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs145726789 | 300 | A>T | No |
ESP TOPMed gnomAD |
|
| rs967871245 | 301 | Q>E | No |
TOPMed gnomAD |
|
| rs2034583200 | 301 | Q>R | No | TOPMed | |
| COSM1126020 | 303 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 305 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2034582933 | 306 | M>K | No | TOPMed | |
| rs867973125 | 310 | R>K | No | Ensembl | |
| COSM1558784 | 310 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745512290 | 312 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1234440070 | 313 | A>T | No | gnomAD | |
| rs1330128335 | 314 | N>S | No | gnomAD | |
| COSM1469703 | 315 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3563767 | 317 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs865939680 | 317 | G>V | No | Ensembl | |
| rs757392631 | 319 | E>K | No |
ExAC gnomAD |
|
| rs757392631 | 319 | E>Q | No |
ExAC gnomAD |
|
| rs763972101 | 320 | G>A | No |
ExAC gnomAD |
|
| rs752615684 | 326 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs752615684 | 326 | R>K | No |
ExAC gnomAD |
|
| COSM6187991 | 327 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764686009 | 328 | L>P | No |
ExAC gnomAD |
|
| TCGA novel | 330 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM273203 | 331 | A>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1315427120 | 331 | A>S | No |
TOPMed gnomAD |
|
| rs1315427120 | 331 | A>T | No |
TOPMed gnomAD |
|
| rs922785036 | 332 | N>D | No |
TOPMed gnomAD |
|
| rs922785036 | 332 | N>H | No |
TOPMed gnomAD |
|
| rs1399027967 | 332 | N>T | No | TOPMed | |
| COSM3563766 | 335 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM758271 | 335 | W>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 336 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs975961621 | 336 | D>N | No | Ensembl | |
| rs765271370 | 339 | Y>C | No |
ExAC gnomAD |
|
| rs1158794270 | 339 | Y>H | No | gnomAD | |
| rs2034387896 | 343 | V>I | No | TOPMed | |
| rs753454494 | 344 | Q>H | No |
ExAC gnomAD |
|
| rs112718501 | 344 | Q>L | No | gnomAD | |
| rs112718501 | 344 | Q>R | No | gnomAD | |
| TCGA novel | 345 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765793647 | 346 | P>S | No |
ExAC gnomAD |
|
| TCGA novel | 348 | K>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 349 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1475628930 | 350 | A>D | No | gnomAD | |
| rs1170222280 | 350 | A>T | No |
TOPMed gnomAD |
|
| rs769036722 | 353 | K>N | No |
ExAC gnomAD |
|
| TCGA novel | 353 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 357 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1434705543 | 358 | F>S | No |
TOPMed gnomAD |
|
| COSM3914278 | 362 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763251269 | 363 | E>V | No |
ExAC gnomAD |
|
| COSM1716516 | 366 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1292510554 | 367 | K>E | No |
TOPMed gnomAD |
|
| COSM1469702 | 368 | T>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs932951232 | 369 | P>L | No | Ensembl | |
| COSM284700 | 372 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1288271564 | 374 | G>C | No | gnomAD | |
|
COSM1126019 rs1288271564 |
374 | G>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs765464040 | 375 | L>F | No |
ExAC gnomAD |
|
| COSM4111346 | 376 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 377 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760093916 | 378 | S>N | No |
ExAC gnomAD |
|
| rs2034373156 | 379 | A>T | No | TOPMed | |
| rs868599016 | 381 | A>S | No | Ensembl | |
| rs2034372952 | 382 | H>R | No | Ensembl | |
| TCGA novel | 382 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2034372860 | 383 | Q>R | No | Ensembl | |
| rs1196180585 | 386 | K>E | No |
TOPMed gnomAD |
|
| rs2147435261 | 389 | S>T | No | Ensembl | |
| rs1226323901 | 392 | A>G | No | gnomAD | |
| COSM257920 | 394 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1126018 | 394 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs771160466 COSM458138 |
395 | I>V | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs377048131 | 396 | A>T | No | Ensembl | |
| rs1435486302 | 397 | E>D | No | gnomAD | |
| COSM4900661 | 398 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs370830847 | 399 | Y>C | No | ESP | |
| rs2034371901 | 399 | Y>D | No | TOPMed | |
| rs1360950825 | 400 | K>E | No |
TOPMed gnomAD |
|
| rs1464538835 | 401 | I>V | No | TOPMed | |
| rs1194905372 | 402 | T>N | No | gnomAD | |
| rs1330739814 | 403 | P>S | No |
TOPMed gnomAD |
|
| rs2034371389 | 405 | T>R | No | TOPMed | |
| rs1430354007 | 406 | S>G | No | gnomAD | |
|
rs1335002566 COSM1626162 |
407 | A>T | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| TCGA novel | 409 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs143409966 | 412 | I>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143409966 | 412 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1166151887 | 413 | V>F | No |
TOPMed gnomAD |
|
| rs2147434935 | 414 | Q>* | No | Ensembl | |
| rs756021150 | 415 | I>V | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs2034360670 |
416 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1290016021 | 419 | A>S | No | gnomAD | |
| rs1290016021 | 419 | A>T | No | gnomAD | |
| TCGA novel | 420 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750004076 | 420 | A>T | No |
ExAC gnomAD |
|
| rs1369864819 | 421 | Q>K | No | gnomAD | |
| rs1306181780 | 421 | Q>R | No |
TOPMed gnomAD |
|
| rs2147433552 | 426 | Y>H | No | Ensembl | |
|
TCGA novel rs2034360098 |
427 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2034360098 | 427 | E>K | No |
TOPMed gnomAD |
|
| rs767002061 | 428 | L>V | No |
ExAC gnomAD |
|
| COSM3563765 | 434 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2034359589 | 437 | Y>S | No | Ensembl | |
| TCGA novel | 440 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4722752 | 442 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3800783 rs1412435395 |
442 | R>Q | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| COSM1126017 | 443 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2034359410 | 444 | I>V | No | TOPMed | |
| rs751106659 | 445 | H>L | No | ExAC | |
| TCGA novel | 446 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1409758796 | 446 | A>T | No | gnomAD | |
|
COSM1224261 rs1184754815 |
447 | T>A | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
| rs2034359074 | 449 | N>H | No | Ensembl | |
| rs1473156181 | 450 | M>V | No |
TOPMed gnomAD |
|
| TCGA novel | 451 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2034358828 | 455 | K>T | No | Ensembl | |
|
COSM3563763 rs780685503 COSM1469700 |
456 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs756682210 | 459 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1434493536 | 461 | K>E | No | Ensembl | |
| rs751251313 | 461 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs946652865 | 461 | K>T | No |
TOPMed gnomAD |
|
|
TCGA novel rs2034349874 |
462 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| COSM4903832 | 462 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1387588302 | 463 | D>E | No |
TOPMed gnomAD |
|
| rs1331773864 | 468 | I>T | No | TOPMed | |
| rs368950910 | 468 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| COSM5910083 | 469 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1412776161 | 470 | I>T | No | gnomAD | |
| rs2034349724 | 470 | I>V | No | gnomAD | |
| rs1443138295 | 472 | M>I | No | TOPMed | |
|
COSM197278 rs758041363 |
473 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1250063029 | 473 | R>H | No | gnomAD | |
| rs759741199 | 474 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs761274559 | 476 | Q>E | No |
ExAC gnomAD |
|
| rs761274559 | 476 | Q>K | No |
ExAC gnomAD |
|
| rs1311989748 | 480 | I>V | No |
TOPMed gnomAD |
|
| rs2034348586 | 483 | L>* | No | Ensembl | |
| rs761750067 | 485 | D>N | No |
ExAC gnomAD |
|
| rs1204237391 | 485 | D>V | No |
TOPMed gnomAD |
|
| rs2034321789 | 488 | D>G | No | Ensembl | |
| COSM4933272 | 489 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1362550536 | 489 | D>N | No | gnomAD | |
| rs999297438 | 491 | R>I | No | TOPMed | |
| rs1325196587 | 491 | R>S | No | gnomAD | |
| rs1569386393 | 492 | Y>H | No | Ensembl | |
| rs1008048635 | 493 | V>I | No | Ensembl | |
| rs1388823489 | 495 | L>I | No | gnomAD | |
| rs2034321151 | 496 | V>G | No | TOPMed | |
| rs756502034 | 497 | T>M | No |
ExAC TOPMed gnomAD |
|
| COSM1126016 | 502 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2034320903 | 502 | G>R | No | Ensembl | |
| TCGA novel | 504 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1423333421 | 506 | L>F | No |
TOPMed gnomAD |
|
| rs1423333421 | 506 | L>V | No |
TOPMed gnomAD |
|
| rs1372992676 | 507 | D>E | No | gnomAD | |
| rs2034320563 | 508 | R>C | No | gnomAD | |
| rs750832618 | 508 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs889728793 | 514 | C>R | No | Ensembl | |
| rs762348425 | 515 | F>Y | No |
ExAC gnomAD |
|
| rs1371549024 | 516 | S>A | No | gnomAD | |
| rs1201282133 | 516 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs764179038 | 518 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs200685475 COSM4111344 |
518 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1483976660 | 519 | E>V | No | gnomAD | |
| rs775651382 | 521 | S>T | No |
ExAC gnomAD |
|
| rs148389332 | 523 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs776460295 | 525 | Y>C | No |
ExAC gnomAD |
|
| rs746956132 | 526 | V>I | No |
ExAC gnomAD |
|
| rs746956132 | 526 | V>L | No |
ExAC gnomAD |
|
| rs772609371 | 527 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs2034318502 | 529 | K>E | No |
TOPMed gnomAD |
|
| rs771540272 | 530 | T>R | No |
ExAC gnomAD |
|
| rs2034318254 | 532 | D>V | No | Ensembl | |
| rs747831437 | 533 | Y>C | No |
ExAC gnomAD |
|
| rs747831437 | 533 | Y>S | No |
ExAC gnomAD |
|
| TCGA novel | 537 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139038048 COSM110310 |
542 | R>C | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 544 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1409766840 | 544 | L>V | No | gnomAD | |
| rs752756048 | 549 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1159483705 | 549 | I>V | No | gnomAD | |
| COSM1126015 | 551 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1174553110 | 552 | M>I | No | gnomAD | |
| rs765487558 | 552 | M>L | No |
ExAC gnomAD |
|
| rs765487558 | 552 | M>V | No |
ExAC gnomAD |
|
| rs2147418958 | 555 | S>P | No | Ensembl | |
| rs759752449 | 556 | A>S | No | ExAC | |
| rs368158027 | 559 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs368158027 | 559 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1468511537 | 561 | I>V | No | gnomAD | |
| rs2034270052 | 562 | R>S | No | Ensembl | |
| rs1239192210 | 563 | I>L | No | gnomAD | |
| rs1187627222 | 563 | I>M | No | gnomAD | |
| rs773157319 | 564 | C>* | No |
ExAC gnomAD |
|
| rs896574001 | 567 | G>A | No | TOPMed | |
| rs2147418717 | 568 | F>V | No | 1000Genomes | |
| rs1240807144 | 570 | K>* | No | gnomAD | |
| rs1240807144 | 570 | K>E | No | gnomAD | |
| rs2034269470 | 570 | K>HSYGII* | No | Ensembl | |
| rs771726589 | 572 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs2147418660 | 573 | R>* | No | Ensembl | |
| rs2034269282 | 573 | R>Q | No | TOPMed | |
| COSM1469697 | 574 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4851061 | 575 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 576 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147418614 | 577 | G>* | No | Ensembl | |
| COSM271511 | 580 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2034268915 | 581 | T>P | No | Ensembl | |
| COSM4111343 | 586 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768488637 | 586 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2034268571 | 589 | V>I | No | Ensembl | |
| rs1222185086 | 591 | P>H | No |
TOPMed gnomAD |
|
| TCGA novel | 592 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147406444 | 597 | Q>R | No | Ensembl | |
| TCGA novel | 598 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3563760 | 600 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2034186193 | 601 | A>D | No |
TOPMed gnomAD |
|
| rs1177840877 | 602 | A>S | No | TOPMed | |
| COSM4111342 | 606 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4111341 rs2147406356 |
609 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs772856945 | 609 | G>A | No |
ExAC gnomAD |
|
| rs772856945 | 609 | G>V | No |
ExAC gnomAD |
|
| COSM3563759 | 611 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM5046138 | 611 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 612 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 613 | Y>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1487930404 | 615 | M>T | No | gnomAD | |
| rs767601470 | 615 | M>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 618 | G>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2147402405 | 621 | P>A | No | Ensembl | |
| COSM3914277 | 621 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1222824516 | 623 | A>P | No | gnomAD | |
| rs748999333 | 625 | G>D | No |
1000Genomes ExAC gnomAD |
|
| rs755009018 | 627 | N>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 629 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754025479 | 630 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs754025479 | 630 | P>S | No |
ExAC TOPMed gnomAD |
|
| COSM4834522 | 631 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1239709706 | 633 | I>L | No | Ensembl | |
|
COSM164102 rs200841626 |
636 | R>C | NS [Cosmic] | No |
cosmic curated 1000Genomes ExAC gnomAD |
| rs750299675 | 636 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM1469696 | 636 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750299675 | 636 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs767405145 | 638 | G>D | No | ExAC | |
| rs1369407970 | 639 | N>D | No |
TOPMed gnomAD |
|
| rs1020493261 | 639 | N>K | No | Ensembl | |
| rs761853223 | 639 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs976900940 | 640 | G>R | No | Ensembl | |
|
COSM3098132 rs2034154640 |
642 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1404160333 | 643 | S>P | No | gnomAD | |
| rs1343551829 | 646 | G>A | No | gnomAD | |
| rs1309847026 | 647 | G>E | No | gnomAD | |
| rs2034154307 | 648 | N>D | No | TOPMed | |
| rs751503710 | 651 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs372276099 | 651 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs751503710 | 651 | N>Y | No |
ExAC TOPMed gnomAD |
|
| COSM4855192 | 653 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs368515757 | 654 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs762573086 | 654 | D>H | No |
ExAC gnomAD |
|
| rs762573086 | 654 | D>N | No |
ExAC gnomAD |
|
| rs773583314 | 655 | G>* | No |
ExAC TOPMed gnomAD |
|
| rs773583314 | 655 | G>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 657 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs34603420 | 657 | K>E | No | Ensembl | |
| COSM3563757 | 658 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3563756 | 661 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762798474 | 661 | S>P | No |
ExAC TOPMed gnomAD |
|
|
COSM2151995 rs149201069 |
662 | H>R | central_nervous_system [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1297556713 | 663 | M>V | No | gnomAD | |
| COSM5538381 | 666 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2033370793 | 669 | H>P | No | TOPMed | |
| rs2033370898 | 669 | H>Y | No | Ensembl | |
| TCGA novel | 670 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373911895 | 672 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs1473184881 | 673 | T>A | No | gnomAD | |
| COSM4819301 | 681 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 682 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6187993 | 682 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM758276 | 682 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767887649 | 683 | I>L | No |
ExAC gnomAD |
|
| rs553883931 | 683 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs774663686 | 684 | T>A | No |
ExAC gnomAD |
|
| rs1257150789 | 684 | T>I | No |
TOPMed gnomAD |
|
| TCGA novel | 686 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2033369729 | 686 | R>K | No | Ensembl | |
| COSM3694732 | 688 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2033369640 | 688 | Q>R | No | Ensembl | |
|
rs1444301630 COSM1319410 |
690 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs2033369289 | 691 | N>S | No | Ensembl | |
| TCGA novel | 692 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs6616890 | 692 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_030670 rs6616890 RCV001709173 |
692 | D>N | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1269753821 | 693 | Q>L | No | gnomAD | |
| rs2033369006 | 695 | K>E | No |
TOPMed gnomAD |
|
| rs2033368910 | 697 | N>S | No | Ensembl | |
| TCGA novel | 698 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1228830660 | 702 | V>A | No |
TOPMed gnomAD |
|
| rs1228830660 | 702 | V>G | No |
TOPMed gnomAD |
|
| COSM6119671 | 704 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3563755 rs1223712762 |
705 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs866129585 | 705 | G>R | No | Ensembl | |
|
rs754433259 COSM3563754 |
707 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs145715341 | 707 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs753321069 | 708 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs182582525 | 711 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1424855693 | 712 | S>P | No |
TOPMed gnomAD |
|
| COSM3973969 | 714 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2033353312 | 715 | T>I | No | Ensembl | |
| rs774755557 | 716 | H>Q | No |
ExAC gnomAD |
|
| rs2033353200 | 716 | H>Y | No | TOPMed | |
| rs1384715374 | 717 | K>R | No |
TOPMed gnomAD |
|
| rs764308184 | 718 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs2147314612 | 723 | L>I | No | Ensembl | |
| rs770313816 | 725 | P>H | No | ExAC | |
| COSM458137 | 733 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771340297 | 733 | Q>R | No |
ExAC gnomAD |
|
| COSM1126010 | 734 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868806814 | 735 | R>Q | No | Ensembl | |
|
rs1194188000 COSM4111339 |
735 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| COSM3563753 | 737 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1569364153 | 737 | M>T | No | Ensembl | |
| rs376230365 | 737 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2033351080 | 739 | K>M | No | Ensembl | |
| rs140567374 | 740 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1126009 rs146789731 |
740 | R>Q | endometrium [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 741 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754877135 | 743 | T>A | No |
ExAC gnomAD |
No associated diseases with Q9UK32
9 regional properties for Q9UK32
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 632 - 812 | IPR000219 |
| domain | CRAL-TRIO lipid binding domain | 52 - 224 | IPR001251 |
| conserved_site | Guanine-nucleotide dissociation stimulator, CDC24, conserved site | 761 - 786 | IPR001331 |
| domain | SH3 domain | 1055 - 1116 | IPR001452 |
| domain | Pleckstrin homology domain | 830 - 948 | IPR001849 |
| repeat | Spectrin repeat | 355 - 454 | IPR002017 |
| repeat | Spectrin/alpha-actinin | 352 - 554 | IPR018159 |
| domain | DBS, SH3 domain | 1059 - 1111 | IPR035532 |
| domain | DBS, PH domain | 817 - 948 | IPR035534 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction |
| protein serine kinase activity | Catalysis of the reactions |
| ribosomal protein S6 kinase activity | Catalysis of the reaction |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, resulting in the induction of the transcription of p21 (also known as WAF1, CIP1 and SDI1) or any equivalent protein, in response to the detection of DNA damage. |
| negative regulation of embryonic development | Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development. |
| negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| negative regulation of mesoderm development | Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
19 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P18652 | RPS6KA | Ribosomal protein S6 kinase 2 alpha | Gallus gallus (Chicken) | SS |
| Q5F3L1 | RPS6KA5 | Ribosomal protein S6 kinase alpha-5 | Gallus gallus (Chicken) | SS |
| Q96S38 | RPS6KC1 | Ribosomal protein S6 kinase delta-1 | Homo sapiens (Human) | PR |
| Q15349 | RPS6KA2 | Ribosomal protein S6 kinase alpha-2 | Homo sapiens (Human) | SS |
| Q15418 | RPS6KA1 | Ribosomal protein S6 kinase alpha-1 | Homo sapiens (Human) | EV |
| P51812 | RPS6KA3 | Ribosomal protein S6 kinase alpha-3 | Homo sapiens (Human) | EV |
| O75676 | RPS6KA4 | Ribosomal protein S6 kinase alpha-4 | Homo sapiens (Human) | SS |
| O75582 | RPS6KA5 | Ribosomal protein S6 kinase alpha-5 | Homo sapiens (Human) | SS |
| Q9UBS0 | RPS6KB2 | Ribosomal protein S6 kinase beta-2 | Homo sapiens (Human) | PR |
| P23443 | RPS6KB1 | Ribosomal protein S6 kinase beta-1 | Homo sapiens (Human) | EV SS |
| Q9WUT3 | Rps6ka2 | Ribosomal protein S6 kinase alpha-2 | Mus musculus (Mouse) | SS |
| Q9Z2B9 | Rps6ka4 | Ribosomal protein S6 kinase alpha-4 | Mus musculus (Mouse) | SS |
| P18654 | Rps6ka3 | Ribosomal protein S6 kinase alpha-3 | Mus musculus (Mouse) | SS |
| Q8C050 | Rps6ka5 | Ribosomal protein S6 kinase alpha-5 | Mus musculus (Mouse) | PR |
| Q8BLK9 | Rps6kc1 | Ribosomal protein S6 kinase delta-1 | Mus musculus (Mouse) | PR |
| P18653 | Rps6ka1 | Ribosomal protein S6 kinase alpha-1 | Mus musculus (Mouse) | SS |
| Q63531 | Rps6ka1 | Ribosomal protein S6 kinase alpha-1 | Rattus norvegicus (Rat) | SS |
| Q18846 | rskn-2 | Putative ribosomal protein S6 kinase alpha-2 | Caenorhabditis elegans | PR |
| Q21734 | rskn-1 | Putative ribosomal protein S6 kinase alpha-1 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLPFAPQDEP | WDREMEVFSG | GGASSGEVNG | LKMVDEPMEE | GEADSCHDEG | VVKEIPITHH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VKEGYEKADP | AQFELLKVLG | QGSFGKVFLV | RKKTGPDAGQ | LYAMKVLKKA | SLKVRDRVRT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KMERDILVEV | NHPFIVKLHY | AFQTEGKLYL | ILDFLRGGDV | FTRLSKEVLF | TEEDVKFYLA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELALALDHLH | QLGIVYRDLK | PENILLDEIG | HIKLTDFGLS | KESVDQEKKA | YSFCGTVEYM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| APEVVNRRGH | SQSADWWSYG | VLMFEMLTGT | LPFQGKDRNE | TMNMILKAKL | GMPQFLSAEA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QSLLRMLFKR | NPANRLGSEG | VEEIKRHLFF | ANIDWDKLYK | REVQPPFKPA | SGKPDDTFCF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DPEFTAKTPK | DSPGLPASAN | AHQLFKGFSF | VATSIAEEYK | ITPITSANVL | PIVQINGNAA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QFGEVYELKE | DIGVGSYSVC | KRCIHATTNM | EFAVKIIDKS | KRDPSEEIEI | LMRYGQHPNI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ITLKDVFDDG | RYVYLVTDLM | KGGELLDRIL | KQKCFSEREA | SDILYVISKT | VDYLHCQGVV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HRDLKPSNIL | YMDESASADS | IRICDFGFAK | QLRGENGLLL | TPCYTANFVA | PEVLMQQGYD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AACDIWSLGV | LFYTMLAGYT | PFANGPNDTP | EEILLRIGNG | KFSLSGGNWD | NISDGAKDLL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SHMLHMDPHQ | RYTAEQILKH | SWITHRDQLP | NDQPKRNDVS | HVVKGAMVAT | YSALTHKTFQ |
| 730 | 740 | ||||
| PVLEPVAASS | LAQRRSMKKR | TSTGL |