Q9UBS0
PR
Gene name |
RPS6KB2 (STK14B) |
Protein name |
Ribosomal protein S6 kinase beta-2 |
Names |
S6K-beta-2, S6K2, 70 kDa ribosomal protein S6 kinase 2, P70S6K2, p70-S6K 2, S6 kinase-related kinase, SRK, Serine/threonine-protein kinase 14B, p70 ribosomal S6 kinase beta, S6K-beta, p70 S6 kinase beta, p70 S6K-beta, p70 S6KB, p70-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6199 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
(Annotation based on sequence homology with P23443)
Ribosomal protein S6 kinases are proteins playing a crucial role in regulating cellular growth and metabolism through its involvement in the mTOR signaling pathway. S6Ks are activated by a wide variety of growth factor receptors, including receptor tyrosine kinases, G-protein-coupled receptors, and the interleukin-2 receptor.
The activity of S6K protein is regulated by autoinhibitory domains. Phosphorylation of specific serine residues within the N-terminal autoinhibitory domain of S6K by cyclin-dependent kinase 5 (Cdk5) is required for dendritic spine morphogenesis in the neuron. In S6K, the N-terminal region also contains an autoinhibitory domain and its deletion activates S6K.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
211-234 (Activation loop from InterPro)
Target domain |
67-328 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q9UBS0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBS0-F1 | Predicted | AlphaFoldDB |
511 variants for Q9UBS0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs371622957 CA224171423 |
2 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA381577379 rs1315522473 |
3 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1309541972 CA381577376 |
3 | A>P | No |
ClinGen gnomAD |
|
|
CA381577375 rs1309541972 |
3 | A>T | No |
ClinGen gnomAD |
|
|
CA381577378 rs1315522473 |
3 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381577394 rs1462251457 |
5 | F>L | No |
ClinGen gnomAD |
|
|
rs765975219 CA6138101 |
7 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1280392514 CA381577407 |
7 | L>W | No |
ClinGen TOPMed |
|
|
CA381577412 rs1480887766 |
8 | D>G | No |
ClinGen gnomAD |
|
|
CA6138102 rs753620593 |
8 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 9 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345243195 CA381577419 |
9 | L>S | No |
ClinGen TOPMed |
|
|
CA381577423 rs1247885335 |
10 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1405433188 CA381577427 |
10 | E>V | No |
ClinGen gnomAD |
|
|
rs1418351304 CA381577436 |
11 | T>M | No |
ClinGen gnomAD |
|
|
rs752676765 CA6138105 |
12 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA381577460 rs1334740541 |
14 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1334740541 CA381577462 |
14 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6138108 rs767587377 |
15 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1376164066 CA381577509 |
17 | G>D | No |
ClinGen TOPMed |
|
|
CA6138110 rs756293976 |
18 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756293976 CA381577513 |
18 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381577526 rs1228214271 |
19 | G>S | No |
ClinGen gnomAD |
|
|
CA224171446 rs886933958 |
20 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1325190517 CA381577552 |
21 | P>A | No |
ClinGen gnomAD |
|
|
CA381577613 rs1221327915 |
25 | P>L | No |
ClinGen gnomAD |
|
|
rs780270650 CA6138111 |
26 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA381577617 rs1261903911 |
26 | A>T | No |
ClinGen gnomAD |
|
| rs369666279 | 27 | D>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381577884 rs1453706106 |
29 | C>R | No |
ClinGen gnomAD |
|
|
CA381577902 rs1314670038 |
30 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6138147 rs373246105 |
30 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6138146 rs373246105 |
30 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6138148 rs765446490 |
31 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6138149 rs546014798 |
33 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546014798 CA224171630 |
33 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381577984 rs1251172584 |
36 | A>T | No |
ClinGen TOPMed |
|
|
CA381577999 rs1211609788 |
36 | A>V | No |
ClinGen TOPMed |
|
|
rs778267371 CA6138151 |
37 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778267371 CA381578006 |
37 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915034326 CA224171656 |
37 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381578018 rs1380434628 |
38 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1311442124 CA381578037 |
39 | L>V | No |
ClinGen TOPMed |
|
|
rs752857156 CA6138167 |
40 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6138152 rs751978487 |
40 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 40 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764343123 CA6138169 |
42 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 43 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381579076 rs1251570731 |
44 | H>P | No |
ClinGen gnomAD |
|
|
rs757772646 CA6138171 |
45 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375607820 CA6138173 |
46 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1398594750 CA381579276 |
50 | L>V | No |
ClinGen gnomAD |
|
|
CA224171725 rs1027266907 |
51 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6138176 rs779657734 |
53 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381579399 rs1405707464 |
54 | S>N | No |
ClinGen gnomAD |
|
|
CA381579401 rs1388320204 |
54 | S>R | No |
ClinGen TOPMed |
|
|
rs1285507462 CA381579405 |
55 | V>L | No |
ClinGen gnomAD |
|
|
rs1232691901 CA381579450 |
56 | N>K | No |
ClinGen gnomAD |
|
|
rs1329408759 CA381579418 |
56 | N>Y | No |
ClinGen gnomAD |
|
|
rs1342021737 CA381579504 |
58 | G>D | No |
ClinGen gnomAD |
|
|
CA381579532 rs1203648555 |
59 | P>L | No |
ClinGen gnomAD |
|
|
CA381579518 rs1166355396 |
59 | P>T | No |
ClinGen TOPMed |
|
|
rs768381085 CA381579571 |
61 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768381085 CA6138178 |
61 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138180 rs550099148 |
65 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224171731 rs529680841 |
65 | H>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
rs370223731 CA6138181 |
66 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381579802 rs1463411225 |
71 | R>C | No |
ClinGen TOPMed |
|
|
CA6138183 rs773118951 |
71 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381579869 rs1374131473 |
73 | L>P | No |
ClinGen gnomAD |
|
|
CA6138184 rs760670106 |
74 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA381579922 rs1167888064 |
75 | K>N | No |
ClinGen gnomAD |
|
|
rs769729806 CA6138185 |
75 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775686892 CA6138186 |
76 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 77 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305169081 CA381580022 |
78 | Y>C | No |
ClinGen gnomAD |
|
|
rs1296312712 CA381580118 |
80 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA381580093 rs1386457776 |
80 | K>R | No |
ClinGen gnomAD |
|
|
rs768677871 CA6138205 |
81 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs774712330 CA6138206 |
84 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6138208 rs374406780 |
85 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6138209 rs773737464 |
85 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6138210 rs761051136 |
86 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA381580422 rs1378885834 |
87 | V>M | No |
ClinGen gnomAD |
|
|
rs201994522 CA6138211 |
90 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6138212 rs753225398 |
91 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA381580541 rs1263141252 |
92 | L>F | No |
ClinGen gnomAD |
|
|
rs1325146358 CA381580545 |
93 | G>S | No |
ClinGen gnomAD |
|
|
rs764793251 CA6138214 |
95 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138213 rs754495017 |
95 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA381580626 rs1179921969 |
96 | Y>C | No |
ClinGen TOPMed |
|
|
CA6138215 rs752314615 |
96 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004877931 CA224171925 |
97 | A>T | No |
ClinGen Ensembl |
|
|
rs200530529 CA6138238 |
104 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224173584 rs992985475 |
107 | V>E | No |
ClinGen TOPMed |
|
|
CA381581900 rs1262920521 |
107 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6138240 rs373631670 |
108 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs185889430 CA6138241 |
108 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185889430 CA6138242 |
108 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381581908 rs1219667965 |
109 | N>D | No |
ClinGen gnomAD |
|
|
rs201805471 CA6138244 |
109 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6138243 COSM1317268 rs201805471 COSM1317269 |
109 | N>S | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1379895537 CA381581919 |
111 | K>E | No |
ClinGen gnomAD |
|
|
CA381581935 rs1191028472 |
113 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1014965757 CA224173603 |
113 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1014965757 CA381581938 |
113 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1565145485 CA381581941 |
114 | A>S | No |
ClinGen Ensembl |
|
|
rs771292935 CA6138248 |
114 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776907309 CA6138249 |
115 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543512293 CA6138252 |
117 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs753540467 CA6138251 |
117 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA381581969 rs1436709094 |
119 | E>G | No |
ClinGen gnomAD |
|
|
rs762438378 CA6138253 |
119 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224173624 rs113335412 |
120 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751194292 CA6138255 |
120 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113335412 CA6138254 |
120 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224173632 rs1030108669 |
122 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs567236165 CA224173637 |
126 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs767297157 CA381582024 |
128 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6138258 rs750220460 |
128 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767297157 COSM1317266 CA6138257 COSM1317267 |
128 | H>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756053104 CA6138259 |
130 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381582070 rs1229263509 |
132 | V>M | No |
ClinGen TOPMed |
|
|
rs753881672 CA6138261 |
133 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138262 rs758543976 |
135 | A>D | No |
ClinGen ExAC gnomAD |
|
|
COSM98814 rs747230226 CA6138264 |
136 | Y>C | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771079656 CA6138265 |
137 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs986004046 CA224173651 |
137 | A>V | No |
ClinGen Ensembl |
|
|
rs746223041 CA6138267 |
140 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs770202266 CA6138268 |
140 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs911400177 CA224173658 |
141 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs911400177 CA381582201 |
141 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6138269 rs775972619 |
144 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs749835914 CA6138270 |
145 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749835914 CA381582267 |
145 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529074150 CA6138272 |
146 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1426607026 CA381582289 |
147 | I>V | No |
ClinGen TOPMed |
|
|
CA381582304 rs1279953170 |
148 | L>V | No |
ClinGen gnomAD |
|
|
CA381582315 rs936208933 |
149 | E>K | No |
ClinGen Ensembl |
|
|
rs936208933 CA224173666 |
149 | E>Q | No |
ClinGen Ensembl |
|
|
rs1330030520 CA381582349 |
151 | L>F | No |
ClinGen gnomAD |
|
|
CA381582365 rs1230476831 |
152 | S>N | No |
ClinGen gnomAD |
|
|
rs761490087 CA6138273 |
152 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6138322 rs760817238 |
155 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1208765540 CA381582502 |
155 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1481622399 CA381582509 |
156 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766598947 CA6138323 |
156 | L>P | No |
ClinGen ExAC |
|
| TCGA novel | 156 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377609182 CA381582526 |
158 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377609182 CA6138325 |
158 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381582525 rs377609182 |
158 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6138327 rs779378437 |
159 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753125285 CA6138328 |
162 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758969856 CA6138329 |
162 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777380250 CA6138330 |
164 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA381582564 rs1390927059 |
165 | I>V | No |
ClinGen gnomAD |
|
|
rs1320538766 CA381582590 |
168 | E>D | No |
ClinGen gnomAD |
|
|
rs780978333 CA6138334 |
170 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA381582609 rs1311069264 |
171 | A>V | No |
ClinGen gnomAD |
|
|
rs770866339 CA6138338 |
172 | C>F | No |
ClinGen ExAC TOPMed |
|
|
CA6138337 rs200955587 |
172 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6138336 rs200955587 |
172 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770866339 CA224174276 |
172 | C>Y | No |
ClinGen ExAC TOPMed |
|
|
rs371735596 CA6138356 |
173 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280306964 CA381582639 |
174 | Y>* | No |
ClinGen TOPMed |
|
|
CA381582636 rs1348066753 |
174 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA381582657 rs1301382987 |
177 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA224174336 rs1013160848 |
178 | I>V | No |
ClinGen TOPMed |
|
|
rs770979132 CA6138360 |
179 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138362 rs759639417 |
182 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 183 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381582685 rs1206101683 |
183 | G>S | No |
ClinGen gnomAD |
|
|
CA224174343 rs1026332487 |
184 | H>R | No |
ClinGen gnomAD |
|
|
rs765502688 CA6138363 |
185 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA381582705 rs1590974549 |
186 | H>P | No |
ClinGen Ensembl |
|
|
rs763363607 CA6138365 |
186 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6138366 rs764620098 |
187 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138367 rs200521938 |
188 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224174347 rs200521938 |
188 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767094407 CA6138369 |
189 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6138370 rs749952266 |
190 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1309442509 CA381582741 |
190 | I>V | No |
ClinGen gnomAD |
|
|
rs755661916 CA6138371 |
191 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138375 rs201348433 |
193 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6138374 rs201348433 |
193 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373824364 CA6138373 |
193 | R>W | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA224174365 rs1017434741 |
194 | D>N | No |
ClinGen gnomAD |
|
|
rs778734222 CA6138376 |
195 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6138377 rs2286622 |
196 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1272248751 CA381582848 |
197 | P>T | No |
ClinGen gnomAD |
|
|
CA6138379 rs187592167 |
198 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs187592167 CA381582859 |
198 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745976270 CA6138380 |
200 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA381582905 rs1489543631 |
201 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381582927 rs1177862736 |
202 | L>F | No |
ClinGen TOPMed |
|
|
CA6138383 rs374245219 |
203 | S>C | No |
ClinGen ExAC |
|
|
rs374245219 CA224174382 |
203 | S>G | No |
ClinGen ExAC |
|
|
rs1565146708 CA381582954 |
204 | S>N | No |
ClinGen Ensembl |
|
|
rs1395060052 CA381582967 |
204 | S>R | No |
ClinGen gnomAD |
|
|
rs1007508504 CA224174387 |
205 | Q>* | No |
ClinGen TOPMed |
|
|
rs761131153 CA6138410 |
212 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA381583237 rs1446954531 |
213 | F>L | No |
ClinGen gnomAD |
|
|
rs765867113 CA6138411 |
214 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753382012 CA6138412 |
215 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM931075 rs899385294 COSM931074 CA224174480 |
216 | C>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6138413 rs759124695 |
217 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA381583360 rs1360108684 |
218 | E>G | No |
ClinGen TOPMed |
|
|
CA6138414 rs561356524 |
220 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6138415 rs752406488 |
221 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA381583508 rs1590975048 |
223 | G>D | No |
ClinGen Ensembl |
|
|
rs1458218437 CA381583496 |
223 | G>S | No |
ClinGen TOPMed |
|
|
CA6138417 rs777468878 |
224 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381583554 rs1335859278 |
224 | A>V | No |
ClinGen gnomAD |
|
|
CA6138420 COSM194548 rs370932588 COSM194549 |
225 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6138419 rs370932588 |
225 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs183360785 CA6138422 |
228 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs183360785 CA381583651 |
228 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1292953913 CA381583667 |
229 | F>L | No |
ClinGen gnomAD |
|
|
CA381583709 rs748416853 |
231 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748416853 CA6138424 |
231 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6138425 rs377172723 |
232 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM72488 CA224174520 rs964559937 |
233 | I>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA381583768 rs1201545098 |
233 | I>V | No |
ClinGen gnomAD |
|
|
rs1209666056 CA381583794 |
234 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746416624 CA6138448 |
236 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs199705384 CA6138428 |
236 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1252149182 CA381583829 |
236 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1369371578 CA381583973 |
238 | P>L | No |
ClinGen gnomAD |
|
|
CA381584019 rs1284055798 |
240 | I>M | No |
ClinGen gnomAD |
|
|
rs1440820251 CA381584028 |
241 | L>Q | No |
ClinGen gnomAD |
|
|
CA224174579 rs971565955 |
242 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs971565955 CA381584041 |
242 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs201207505 CA6138449 |
243 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6138450 rs775004966 |
244 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA381584103 rs1211069545 |
245 | G>D | No |
ClinGen gnomAD |
|
|
rs1270734845 CA381584116 |
246 | H>Y | No |
ClinGen gnomAD |
|
|
CA381584145 rs1034596803 |
247 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6138451 rs762599500 |
247 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224174589 rs1034596803 |
247 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs920764817 CA224174598 |
248 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6138452 rs763667411 |
248 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774109450 CA6138453 |
249 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200216663 CA224174602 |
250 | V>A | No |
ClinGen TOPMed |
|
|
rs200216663 CA381584197 |
250 | V>E | No |
ClinGen TOPMed |
|
|
CA381584188 rs1458630556 |
250 | V>M | No |
ClinGen gnomAD |
|
|
rs767458143 CA6138455 |
251 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs767458143 CA381584217 |
251 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6138456 rs375271576 |
252 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756139829 CA6138457 |
253 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381584291 rs1367770435 |
254 | S>N | No |
ClinGen gnomAD |
|
|
CA381584302 rs1590975484 |
254 | S>R | No |
ClinGen Ensembl |
|
|
CA381584311 rs767022688 |
255 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246554828 CA381584327 |
256 | G>E | No |
ClinGen gnomAD |
|
|
rs536646745 CA6138459 |
256 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA224174605 rs929541829 |
257 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs929541829 CA381584338 |
257 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381584341 rs929541829 |
257 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA381584366 rs1269993773 |
258 | L>Q | No |
ClinGen gnomAD |
|
|
rs1424553335 CA381585399 |
259 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs371587478 CA224174616 |
259 | M>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1256596420 CA381585391 |
259 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6138463 CA381585438 rs760027023 |
260 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565147334 CA381585430 |
260 | Y>C | No |
ClinGen Ensembl |
|
|
CA381585433 rs1565147334 |
260 | Y>F | No |
ClinGen Ensembl |
|
|
CA381585506 rs1474951609 |
261 | D>G | No |
ClinGen gnomAD |
|
|
rs1415732150 CA381585469 |
261 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA381585566 rs1160033493 |
262 | M>I | No |
ClinGen gnomAD |
|
|
CA381585574 rs1347426384 |
263 | L>F | No |
ClinGen gnomAD |
|
|
rs555857765 CA224174622 |
263 | L>H | No |
ClinGen gnomAD |
|
|
rs781586162 CA6138465 |
264 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6138464 rs781586162 |
264 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6138466 rs566933669 |
266 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1229374921 | 267 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6138496 VAR_040643 rs55987642 |
267 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6138497 rs55987642 |
267 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA224174796 rs4930427 |
269 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761963997 CA6138500 |
270 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1203856091 CA381586025 |
270 | T>P | No |
ClinGen gnomAD |
|
|
rs750710697 CA224174813 |
271 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138502 rs750710697 |
271 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138504 rs780513149 |
272 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs565413086 CA6138506 |
274 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs199664699 CA6138505 |
274 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs778215913 CA6138507 |
278 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA381586415 rs1292184571 |
280 | K>R | No |
ClinGen TOPMed |
|
|
rs747678167 CA381586439 |
281 | I>F | No |
ClinGen ExAC TOPMed |
|
|
rs747678167 CA381586428 |
281 | I>L | No |
ClinGen ExAC TOPMed |
|
|
rs747678167 CA6138508 |
281 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs777567762 CA6138512 |
284 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1224114723 CA381586555 |
284 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381586597 rs1197709003 |
285 | K>N | No |
ClinGen Ensembl |
|
|
rs746702111 CA381586605 |
286 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6138514 rs770611310 |
287 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA6138515 rs770611310 |
287 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6138516 rs368630119 |
287 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381586656 rs1351277109 |
288 | L>P | No |
ClinGen gnomAD |
|
|
rs761874199 CA6138519 |
289 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775346029 CA6138518 |
289 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs370899912 CA6138521 |
290 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1490024725 CA381586743 |
291 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6138523 rs532575118 |
293 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs900537659 CA224174866 |
294 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 294 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381586817 rs1465772401 |
295 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs766610080 CA6138524 |
297 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755385727 CA6138526 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766610080 CA6138525 |
297 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182155013 CA381586882 |
298 | D>G | No |
ClinGen gnomAD |
|
|
rs757954567 CA6138529 |
301 | K>R | Variant assessed as Somatic; 9.29e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1251687445 CA381587255 |
303 | F>L | No |
ClinGen TOPMed |
|
|
CA6138569 rs201850616 |
306 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6138570 rs201850616 |
306 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776029111 CA6138568 |
306 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs752178018 CA6138571 |
308 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381587463 rs1478332060 |
310 | Q>P | No |
ClinGen gnomAD |
|
|
CA6138573 rs766984944 |
311 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138572 rs200667089 |
311 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs187977820 CA6138575 |
312 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750042369 CA381587545 |
312 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138574 rs750042369 |
312 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138576 rs779752969 |
313 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6138578 rs754822281 |
314 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753642062 CA6138577 |
314 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381587707 rs1565148263 |
318 | D>H | No |
ClinGen Ensembl |
|
|
CA6138581 rs771025035 |
321 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs948151169 CA224175274 |
325 | H>R | No |
ClinGen Ensembl |
|
|
rs1271143531 CA381588062 |
326 | P>A | No |
ClinGen gnomAD |
|
|
CA381588115 rs1205436797 |
328 | F>S | No |
ClinGen gnomAD |
|
|
rs536484524 CA6138600 COSM34768 |
329 | R>Q | salivary_gland [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6138599 COSM1356407 rs376762664 COSM1356408 |
329 | R>W | Variant assessed as Somatic; 4.644e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA224175277 rs868744066 |
330 | H>P | No |
ClinGen Ensembl |
|
|
rs1422970663 CA381588140 |
330 | H>Y | No |
ClinGen gnomAD |
|
|
rs1167215337 CA381589055 |
331 | M>T | No |
ClinGen gnomAD |
|
|
rs1170183599 CA381589042 |
331 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756322035 CA6138603 |
333 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs745949797 CA6138602 |
333 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs931217152 CA224175286 |
334 | D>N | No |
ClinGen Ensembl |
|
|
rs769093150 CA6138607 |
335 | D>E | No |
ClinGen ExAC |
|
|
CA6138605 rs373702089 |
335 | D>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1409471755 CA381589224 |
337 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6138609 rs376486190 |
339 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772467031 CA6138610 |
340 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM931079 COSM931078 rs199570304 CA6138611 |
340 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA224175298 rs886753948 |
341 | V>M | No |
ClinGen gnomAD |
|
|
rs1590977997 CA381589320 |
342 | D>A | No |
ClinGen Ensembl |
|
|
CA381589337 rs1334000410 |
343 | P>S | No |
ClinGen gnomAD |
|
|
CA6138612 rs760171314 |
344 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200448294 CA6138613 |
344 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200448294 CA6138614 |
344 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760171314 CA381589359 |
344 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760171314 CA381589355 |
344 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138616 rs765046567 |
347 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201429751 CA6138615 |
347 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 349 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6138617 rs752440186 |
349 | L>R | No |
ClinGen ExAC TOPMed |
|
|
rs753976470 CA6138647 |
352 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs755139718 CA6138648 |
353 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138649 rs778996383 |
354 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311860400 CA381589890 |
355 | V>A | No |
ClinGen gnomAD |
|
|
rs758670436 CA6138651 |
355 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439260650 CA381589961 |
358 | F>S | No |
ClinGen TOPMed |
|
|
rs577172628 CA6138653 |
360 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6138654 rs146762475 |
361 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA381590047 rs1455889489 |
361 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs771436864 CA6138655 |
363 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs375350949 CA381590118 |
364 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199639577 CA6138658 |
364 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1224264 CA6138656 COSM1224265 rs375350949 |
364 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1444450868 CA381590169 |
365 | Q>H | No |
ClinGen TOPMed |
|
|
COSM1356411 COSM1356412 CA6138659 rs200633410 |
366 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375294282 CA6138662 |
367 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381590252 rs55642995 |
368 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_040644 rs55642995 CA6138664 |
368 | V>M | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1274037954 CA381590286 |
369 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394397866 CA381590336 |
371 | P>S | No |
ClinGen TOPMed |
|
|
CA381590321 rs1394397866 |
371 | P>T | No |
ClinGen TOPMed |
|
|
CA6138666 rs759500386 |
372 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA381590495 rs1275806945 |
375 | A>V | No |
ClinGen gnomAD |
|
|
rs1274296164 CA381590548 |
377 | S>N | No |
ClinGen gnomAD |
|
|
CA224175504 rs899536539 |
378 | E>D | No |
ClinGen Ensembl |
|
|
rs751934202 CA6138671 |
378 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751934202 CA381590592 |
378 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381590631 rs1325203087 |
379 | S>N | No |
ClinGen gnomAD |
|
|
rs1209173694 CA381590620 |
379 | S>R | No |
ClinGen TOPMed |
|
|
CA381590643 rs1325203087 |
379 | S>T | No |
ClinGen gnomAD |
|
|
rs1347870332 CA381590659 |
380 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1246501692 CA381590694 |
381 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6138672 rs201713248 |
383 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201713248 CA6138673 |
383 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369245928 CA224175507 |
383 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1419856910 CA381590795 |
384 | F>L | No |
ClinGen gnomAD |
|
|
CA381590786 rs1165053147 |
384 | F>S | No |
ClinGen gnomAD |
|
|
CA381590940 rs746856506 |
386 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138701 rs746856506 |
386 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781292639 CA224175613 |
387 | F>L | No |
ClinGen gnomAD |
|
|
CA381590959 rs781292639 |
387 | F>V | No |
ClinGen gnomAD |
|
|
rs1157807829 CA381591015 |
388 | T>I | No |
ClinGen TOPMed |
|
|
rs776495062 CA6138704 |
390 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs776495062 CA6138703 |
390 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs369567317 CA6138705 |
391 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6138706 rs774537038 |
392 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138707 rs372739497 |
392 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372739497 CA381591120 |
392 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6138710 rs756490332 |
393 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs750809424 CA6138709 |
393 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA381591178 rs1242030518 |
395 | L>P | No |
ClinGen TOPMed |
|
|
CA6138711 rs766904831 |
395 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA381591236 rs1273108996 |
397 | S>N | No |
ClinGen gnomAD |
|
|
CA6138713 rs754513487 |
399 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1237305807 CA381591373 |
401 | G>D | No |
ClinGen gnomAD |
|
|
rs1195301577 CA381591455 |
403 | S>F | No |
ClinGen gnomAD |
|
|
CA6138715 rs778586758 |
404 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381591478 rs1172055774 |
405 | Q>* | No |
ClinGen gnomAD |
|
|
CA381591521 rs1397391335 |
406 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1329977977 CA381591623 |
409 | R>C | No |
ClinGen gnomAD |
|
|
CA6138717 rs569000234 |
409 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6138718 rs777373346 |
410 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA6138719 rs376033461 |
411 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs529912361 CA224175663 |
412 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776604371 CA6138721 |
413 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138722 rs745857359 |
413 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs745857359 CA381591824 |
413 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA381591873 rs1340911035 |
415 | N>D | No |
ClinGen gnomAD |
|
|
CA6138724 rs774416872 |
415 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs778754333 CA224175675 |
416 | S>G | No |
ClinGen gnomAD |
|
|
rs1042724078 CA224175679 |
416 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs761961969 CA6138725 |
416 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772264744 CA6138727 |
418 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761069220 CA6138729 |
419 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6138728 rs773369786 |
419 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381592060 rs13859 |
420 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754319576 CA381592054 |
420 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754319576 CA6138731 |
420 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_040645 CA6138732 rs13859 |
420 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1462434909 CA381592096 |
421 | P>L | No |
ClinGen gnomAD |
|
|
rs752270217 CA6138734 |
422 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201485693 CA6138755 |
423 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6138758 rs750202769 |
424 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780981071 CA6138757 |
424 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189713223 CA381592521 |
429 | P>L | No |
ClinGen Ensembl |
|
|
CA381592566 rs1182969216 |
430 | F>L | No |
ClinGen gnomAD |
|
|
CA381592562 rs1423760267 |
430 | F>S | No |
ClinGen gnomAD |
|
|
CA6138762 rs749273010 |
432 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138761 rs749273010 |
432 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381592628 rs1256430551 |
432 | G>R | No |
ClinGen Ensembl |
|
|
CA6138764 rs189269522 |
434 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6138763 rs375129435 |
434 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM931080 COSM931081 CA6138769 rs371345807 |
440 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs371345807 CA6138768 |
440 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1401335302 CA381593004 |
442 | P>L | No |
ClinGen gnomAD |
|
|
CA381592990 rs1293129343 |
442 | P>T | No |
ClinGen TOPMed |
|
|
CA6138772 rs374535834 |
443 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6138771 rs374535834 COSM20688 VAR_040646 |
443 | T>M | ovary an ovarian mucinous carcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1228602915 CA381593008 |
443 | T>S | No |
ClinGen TOPMed |
|
|
CA6138776 rs761441103 |
444 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6138774 rs773744198 |
444 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA224175809 rs562561012 |
446 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1348906716 CA381593225 |
450 | L>F | No |
ClinGen gnomAD |
|
|
CA6138780 rs753733330 |
452 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381593262 rs753733330 |
452 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6138779 rs766183542 |
452 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6138783 rs529774605 |
453 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224175820 rs529774605 |
453 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6138782 rs754873881 |
453 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1727647 rs373972783 COSM1727646 CA6138785 |
454 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201231114 CA6138787 |
455 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1010603846 CA224175828 |
456 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1052688 CA6138790 |
457 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590980624 CA381593452 |
457 | S>P | No |
ClinGen Ensembl |
|
|
CA381593474 rs1052688 |
457 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224175835 rs1046959200 |
458 | T>N | No |
ClinGen TOPMed |
|
|
rs369452492 CA381593523 |
460 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1475817 rs369452492 COSM1475818 CA6138794 |
460 | A>T | Variant assessed as Somatic; 5.481e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6138796 rs200313021 |
461 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6138797 rs200313021 |
461 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1565149734 CA381593559 |
461 | P>S | No |
ClinGen Ensembl |
|
|
CA6138798 rs766095200 |
463 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960927602 CA224175853 |
464 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767531294 CA6138799 |
465 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374915842 CA6138800 |
465 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381593730 rs1590980762 |
466 | P>L | No |
ClinGen Ensembl |
|
|
rs765083118 CA6138801 |
466 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138803 rs757262687 |
467 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138804 rs757262687 |
467 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6138805 rs757262687 |
467 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381593746 rs1590980776 |
467 | P>T | No |
ClinGen Ensembl |
|
|
CA224175865 rs1037048232 |
468 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 468 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266025593 CA381593796 |
469 | G>R | No |
ClinGen gnomAD |
|
|
rs779262747 CA6138811 |
470 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA381593926 rs1465093443 |
475 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1590980879 CA381593950 |
476 | G>D | No |
ClinGen Ensembl |
|
|
CA6138814 rs772711337 |
477 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271376042 CA381593970 |
477 | R>H | No |
ClinGen TOPMed |
|
|
CA6138815 rs760261337 |
478 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1204885990 CA381593986 |
478 | G>R | No |
ClinGen TOPMed |
|
|
rs372601315 CA6138816 |
479 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224175875 rs1028574404 |
479 | R>H | No |
ClinGen gnomAD |
|
|
rs1280192094 CA381594035 |
481 | G>R | No |
ClinGen gnomAD |
|
|
CA6138817 rs202063609 |
482 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759220531 CA6138819 |
482 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759220531 CA6138818 |
482 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759220531 CA381594063 |
482 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381594053 rs202063609 |
482 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752532248 CA6138820 |
483 | R>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9UBS0
5 regional properties for Q9UBS0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 67 - 328 | IPR000719 |
| domain | AGC-kinase, C-terminal | 329 - 399 | IPR000961 |
| active_site | Serine/threonine-protein kinase, active site | 190 - 202 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 73 - 99 | IPR017441 |
| domain | Protein kinase, C-terminal | 350 - 389 | IPR017892 |
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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| peptide binding | Binding to a peptide, an organic compound comprising two or more amino acids linked by peptide bonds. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| ribosomal protein S6 kinase activity | Catalysis of the reaction: ribosomal protein S6 + ATP = ribosomal protein S6 phosphate + ATP. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| positive regulation of translational initiation | Any process that activates or increases the frequency, rate or extent of translational initiation. |
| protein kinase B signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
| 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. |
| TOR signaling | The series of molecular signals mediated by TOR (Target of rapamycin) proteins, members of the phosphoinositide (PI) 3-kinase related kinase (PIKK) family that act as serine/threonine kinases in response to nutrient availability or growth factors. |
| translation | The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6TJY3 | RPS6KB1 | Ribosomal protein S6 kinase beta-1 | Bos taurus (Bovine) | SS |
| Q9HBY8 | SGK2 | Serine/threonine-protein kinase Sgk2 | Homo sapiens (Human) | SS |
| O00141 | SGK1 | Serine/threonine-protein kinase Sgk1 | Homo sapiens (Human) | PR |
| Q96BR1 | SGK3 | Serine/threonine-protein kinase Sgk3 | Homo sapiens (Human) | SS |
| Q15349 | RPS6KA2 | Ribosomal protein S6 kinase alpha-2 | Homo sapiens (Human) | SS |
| Q15418 | RPS6KA1 | Ribosomal protein S6 kinase alpha-1 | Homo sapiens (Human) | EV |
| Q9UK32 | RPS6KA6 | Ribosomal protein S6 kinase alpha-6 | Homo sapiens (Human) | SS |
| 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 |
| P23443 | RPS6KB1 | Ribosomal protein S6 kinase beta-1 | Homo sapiens (Human) | EV SS |
| Q8QZV4 | Stk32c | Serine/threonine-protein kinase 32C | Mus musculus (Mouse) | PR |
| Q8BSK8 | Rps6kb1 | Ribosomal protein S6 kinase beta-1 | Mus musculus (Mouse) | SS |
| Q9ERE3 | Sgk3 | Serine/threonine-protein kinase Sgk3 | Mus musculus (Mouse) | PR |
| Q9Z1M4 | Rps6kb2 | Ribosomal protein S6 kinase beta-2 | Mus musculus (Mouse) | SS |
| P67999 | Rps6kb1 | Ribosomal protein S6 kinase beta-1 | Rattus norvegicus (Rat) | EV SS |
| Q5BKK4 | sgk1 | Serine/threonine-protein kinase Sgk1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAVFDLDLE | TEEGSEGEGE | PELSPADACP | LAELRAAGLE | PVGHYEEVEL | TETSVNVGPE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RIGPHCFELL | RVLGKGGYGK | VFQVRKVQGT | NLGKIYAMKV | LRKAKIVRNA | KDTAHTRAER |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NILESVKHPF | IVELAYAFQT | GGKLYLILEC | LSGGELFTHL | EREGIFLEDT | ACFYLAEITL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALGHLHSQGI | IYRDLKPENI | MLSSQGHIKL | TDFGLCKESI | HEGAVTHTFC | GTIEYMAPEI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LVRSGHNRAV | DWWSLGALMY | DMLTGSPPFT | AENRKKTMDK | IIRGKLALPP | YLTPDARDLV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKFLKRNPSQ | RIGGGPGDAA | DVQRHPFFRH | MNWDDLLAWR | VDPPFRPCLQ | SEEDVSQFDT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RFTRQTPVDS | PDDTALSESA | NQAFLGFTYV | APSVLDSIKE | GFSFQPKLRS | PRRLNSSPRA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PVSPLKFSPF | EGFRPSPSLP | EPTELPLPPL | LPPPPPSTTA | PLPIRPPSGT | KKSKRGRGRP |
| GR |