O96013
EV
Gene name |
PAK4 (KIAA1142) |
Protein name |
Serine/threonine-protein kinase PAK 4 |
Names |
p21-activated kinase 4, PAK-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10298 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
SERINE/THREONINE-PROTEIN KINASE TAO (PTHR48015) |
Descriptions
PAK4 encodes for Serine/threonine-protein kinase PAK 4, and control many cellular functions, including actin cytoskeleton regulation, cell growth, migration and survival, cytokine signaling. Group II PAKs (PAK4, 5, and 6) harbor well-conserved pseudosubstrate sequences. The N-terminal inhibitory segment of PAK4 contains two pseudopeptide sequences (FTGLPR at 32th and RPKPLV at 49th) that binds to the active site of the kinase domain as a pseudosubstrate. PAKs are activated by the binding of GTP-loaded Cdc42 (or Rac) to the CRIB domain, which disrupts the dimer and unfolds autoinhibitory region. After releasing the autoinhibitory region, the kinase domain is then autophosphorylated for full activation.
Autoinhibitory domains (AIDs)
Target domain |
321-572 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
Structural analysis, Deletion assay |
Accessory elements
457-480 (Activation loop from InterPro)
Target domain |
321-572 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Ha BH et al. (2012) "Type II p21-activated kinases (PAKs) are regulated by an autoinhibitory pseudosubstrate", Proceedings of the National Academy of Sciences of the United States of America, 109, 16107-12
- Bautista L et al. (2020) "p21-Activated Kinases in Thyroid Cancer", Endocrinology, 161,
- Chong C et al. (2001) "The mechanism of PAK activation. Autophosphorylation events in both regulatory and kinase domains control activity", The Journal of biological chemistry, 276, 17347-53
- Wang J et al. (2011) "Structural insights into the autoactivation mechanism of p21-activated protein kinase", Structure (London, England : 1993), 19, 1752-61
- Lei M et al. (2000) "Structure of PAK1 in an autoinhibited conformation reveals a multistage activation switch", Cell, 102, 387-97
- Totaro A et al. (2007) "Identification of an intramolecular interaction important for the regulation of GIT1 functions", Molecular biology of the cell, 18, 5124-38
- Rousseau V et al. (2003) "A new constitutively active brain PAK3 isoform displays modified specificities toward Rac and Cdc42 GTPases", The Journal of biological chemistry, 278, 3912-20
Autoinhibited structure
Activated structure
47 structures for O96013
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2BVA | X-ray | 230 A | A/B | 300-591 | PDB |
| 2CDZ | X-ray | 230 A | A | 291-591 | PDB |
| 2J0I | X-ray | 160 A | A | 291-591 | PDB |
| 2OV2 | X-ray | 210 A | I/J/K/L/M/N/O/P | 10-44 | PDB |
| 2Q0N | X-ray | 175 A | A | 291-591 | PDB |
| 2X4Z | X-ray | 210 A | A | 297-591 | PDB |
| 4APP | X-ray | 220 A | A | 300-591 | PDB |
| 4FIE | X-ray | 311 A | A/B | 5-591 | PDB |
| 4FIF | X-ray | 260 A | PDB | ||
| 4FIG | X-ray | 301 A | A/B | 286-591 | PDB |
| 4FIH | X-ray | 197 A | A | 286-591 | PDB |
| 4FII | X-ray | 200 A | PDB | ||
| 4FIJ | X-ray | 230 A | A | 286-591 | PDB |
| 4JDH | X-ray | 200 A | A | 286-591 | PDB |
| 4JDI | X-ray | 185 A | A | 286-591 | PDB |
| 4JDJ | X-ray | 230 A | A | 286-591 | PDB |
| 4JDK | X-ray | 240 A | A | 286-591 | PDB |
| 4L67 | X-ray | 280 A | PDB | ||
| 4NJD | X-ray | 250 A | A | 300-591 | PDB |
| 4O0V | X-ray | 280 A | A | 300-591 | PDB |
| 4O0X | X-ray | 248 A | A | 300-591 | PDB |
| 4O0Y | X-ray | 220 A | A | 300-591 | PDB |
| 4XBR | X-ray | 294 A | A | 278-591 | PDB |
| 4XBU | X-ray | 206 A | A | 286-591 | PDB |
| 5BMS | X-ray | 290 A | A | 300-591 | PDB |
| 5I0B | X-ray | 309 A | A | 300-591 | PDB |
| 5UPK | X-ray | 240 A | PDB | ||
| 5UPL | X-ray | 300 A | A | 2-591 | PDB |
| 5VED | X-ray | 230 A | A | 286-591 | PDB |
| 5VEE | X-ray | 250 A | A | 286-591 | PDB |
| 5VEF | X-ray | 175 A | A | 286-591 | PDB |
| 5XVA | X-ray | 185 A | A | 300-591 | PDB |
| 5XVF | X-ray | 265 A | A | 300-588 | PDB |
| 5XVG | X-ray | 210 A | A | 300-591 | PDB |
| 5ZJW | X-ray | 180 A | A | 300-591 | PDB |
| 6WLX | X-ray | 220 A | A | 286-591 | PDB |
| 6WLY | X-ray | 190 A | A | 286-591 | PDB |
| 7CMB | X-ray | 259 A | A | 300-591 | PDB |
| 7CP3 | X-ray | 290 A | A | 300-591 | PDB |
| 7CP4 | X-ray | 250 A | A | 300-591 | PDB |
| 7S46 | X-ray | 210 A | A | 286-591 | PDB |
| 7S47 | X-ray | 200 A | A | 286-591 | PDB |
| 7S48 | X-ray | 190 A | A | 286-591 | PDB |
| 8AHG | X-ray | 189 A | A | 300-591 | PDB |
| 8AHH | X-ray | 204 A | A | 300-591 | PDB |
| 8AHI | X-ray | 269 A | A | 300-591 | PDB |
| AF-O96013-F1 | Predicted | AlphaFoldDB |
587 variants for O96013
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs193920877 COSM1179939 RCV000149028 CA174136 |
502 | G>R | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1458237744 CA405745637 |
5 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1177227980 CA405745660 |
8 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1177227980 CA405745658 |
8 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9424771 rs767251919 |
8 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424772 rs749987185 |
9 | V>A | No |
ClinGen ExAC |
|
|
CA9424775 rs753086242 |
13 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308205229 rs753086242 |
13 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146498509 CA9424776 |
13 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9424778 rs751802953 |
14 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405745698 rs1439968045 |
15 | S>Y | No |
ClinGen gnomAD |
|
|
rs746029459 CA9424781 |
16 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1225560068 CA405745705 |
16 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1225560068 CA405745703 |
16 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs535952525 CA405745715 |
17 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749175521 CA9424784 |
18 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308205240 rs950791889 |
19 | H>D | No |
ClinGen Ensembl |
|
|
CA9424785 rs768590496 |
20 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424787 rs146583353 |
21 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs899778410 CA308205242 |
25 | F>L | No |
ClinGen TOPMed |
|
|
rs970037999 CA308205246 |
26 | D>E | No |
ClinGen Ensembl |
|
|
rs1422390090 CA405745767 |
26 | D>N | No |
ClinGen gnomAD |
|
|
CA9424791 rs765738875 |
27 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9424792 rs753278807 |
27 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs75096376 CA405745785 |
28 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1392257161 CA405745783 |
28 | H>R | No |
ClinGen gnomAD |
|
|
CA308205248 rs1054214848 |
28 | H>Y | No |
ClinGen TOPMed |
|
|
CA9424794 rs764564188 |
29 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405745796 rs1568523022 |
30 | Q>* | No |
ClinGen Ensembl |
|
|
rs1568523044 CA405745809 |
31 | K>N | No |
ClinGen Ensembl |
|
|
rs1369491877 CA405745815 |
32 | F>S | No |
ClinGen gnomAD |
|
|
rs751962517 CA9424796 |
33 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220599317 CA405745853 |
36 | P>L | No |
ClinGen gnomAD |
|
|
rs781536944 CA9424798 |
37 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025059519 CA405745928 |
41 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA308205301 rs1025059519 |
41 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1267698343 CA405745930 |
41 | S>R | No |
ClinGen gnomAD |
|
|
rs1267698343 CA405745929 |
41 | S>R | No |
ClinGen gnomAD |
|
|
rs373656030 CA405745954 |
43 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308205307 rs200500244 |
44 | E>K | No |
ClinGen gnomAD |
|
|
CA308205309 rs906708547 |
46 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs548064368 CA405746017 |
48 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs548064368 CA9424801 |
48 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs749352070 CA9424802 |
48 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs778987184 CA9424804 |
49 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755002075 CA9424803 |
49 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748011995 CA9424805 |
52 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424808 rs148292608 |
54 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9424810 rs112229040 |
55 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308205381 rs112229040 |
55 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405746152 rs1568523248 |
55 | D>N | No |
ClinGen Ensembl |
|
|
CA308205395 rs112229040 |
55 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424811 rs759016455 |
56 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA405746180 rs759016455 |
56 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs774829221 CA9424814 |
57 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774829221 CA9424813 |
57 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs963991135 CA308205402 |
57 | A>V | No |
ClinGen TOPMed |
|
|
CA9424815 rs767710744 |
59 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs766589746 CA9424818 |
62 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA405746319 rs1403336982 |
63 | Q>H | No |
ClinGen TOPMed |
|
|
rs1254885922 CA405746325 |
64 | P>T | No |
ClinGen gnomAD |
|
|
rs779005730 CA405746347 |
65 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779005730 CA9424821 |
65 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424823 rs373324891 |
66 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405746359 rs373324891 |
66 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308205457 rs376845802 |
66 | A>V | No |
ClinGen Ensembl |
|
|
rs1380709091 CA405746376 |
67 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1232841762 CA405746392 |
68 | K>Q | No |
ClinGen gnomAD |
|
|
rs777383162 CA9424824 |
68 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777383162 CA405746395 |
68 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405747543 rs1398036913 |
70 | I>V | No |
ClinGen TOPMed |
|
|
rs765366293 CA9424839 |
71 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424840 rs372186735 |
72 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478203001 CA405747568 |
72 | R>W | No |
ClinGen gnomAD |
|
|
rs1465228337 CA405747606 |
75 | K>Q | No |
ClinGen gnomAD |
|
|
rs1171458355 CA405747616 |
75 | K>R | No |
ClinGen gnomAD |
|
|
CA405747613 rs1171458355 |
75 | K>T | No |
ClinGen gnomAD |
|
|
rs1425740844 CA405747625 |
76 | G>C | No |
ClinGen TOPMed |
|
|
CA405747628 rs1403145731 |
76 | G>D | No |
ClinGen gnomAD |
|
|
CA9424841 rs758316777 |
77 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA405747648 rs1171275362 |
78 | K>E | No |
ClinGen TOPMed |
|
|
rs1323423478 CA405747684 |
80 | G>A | No |
ClinGen gnomAD |
|
|
CA308207904 rs992815314 |
81 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA405747689 rs1332055378 |
81 | A>P | No |
ClinGen gnomAD |
|
|
rs1438969944 CA405747698 |
82 | L>F | No |
ClinGen gnomAD |
|
|
rs1438969944 CA405747701 |
82 | L>I | No |
ClinGen gnomAD |
|
|
COSM1219143 rs1276320243 CA405747717 |
83 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA405747720 rs1212864210 |
84 | L>M | No |
ClinGen gnomAD |
|
|
rs751378523 CA9424843 |
88 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757063787 CA9424844 |
89 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA405747784 rs1208007675 |
89 | F>L | No |
ClinGen gnomAD |
|
|
rs780838667 CA9424845 |
92 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA405747838 rs1223487286 |
93 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA405747858 rs1392295270 |
95 | T>I | No |
ClinGen gnomAD |
|
|
rs1477605417 CA405747865 |
96 | R>C | No |
ClinGen gnomAD |
|
|
CA308207973 rs1043867370 |
96 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1474235060 CA405747882 |
97 | S>F | No |
ClinGen gnomAD |
|
|
CA405747886 rs1163195390 |
98 | N>Y | No |
ClinGen gnomAD |
|
|
CA9424846 rs567579611 |
101 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs925258792 CA308207981 |
101 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9424847 rs144141109 |
103 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1341847714 CA405747961 |
104 | S>G | No |
ClinGen gnomAD |
|
|
rs779494733 CA9424848 |
105 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772517651 CA9424850 |
106 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424852 rs760958606 |
107 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114116556 CA9424854 |
108 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9424853 rs771352703 |
108 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200319983 CA405748022 |
109 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200319983 CA9424856 |
109 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752759434 CA9424857 |
110 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752759434 CA308208116 |
110 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424858 rs763084575 |
110 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405748036 rs763084575 |
110 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405748034 rs763084575 |
110 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538763261 CA308208124 |
112 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs763997184 CA9424859 |
112 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308208132 rs763997184 |
112 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405748062 rs1362056451 |
113 | Q>* | No |
ClinGen gnomAD |
|
|
CA405748070 rs1393848826 |
113 | Q>R | No |
ClinGen gnomAD |
|
|
CA405748113 rs1332904671 |
116 | G>E | No |
ClinGen gnomAD |
|
|
CA405748132 rs1341034670 |
117 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA405748135 rs1341034670 |
117 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA405748146 rs1450154461 |
119 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA405748152 rs1352724887 |
120 | E>K | No |
ClinGen gnomAD |
|
|
rs374813703 CA308208169 |
121 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374813703 CA405748168 |
121 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA308208213 rs935414479 |
123 | T>I | No |
ClinGen TOPMed |
|
|
CA308208221 rs1052399906 |
124 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1052399906 CA405748205 |
124 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405748215 rs1444151090 |
125 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9424862 rs542234211 |
126 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405748240 rs1568526706 |
127 | G>E | No |
ClinGen Ensembl |
|
|
rs1405493071 CA405748249 |
128 | G>C | No |
ClinGen TOPMed |
|
|
rs1238030452 CA405748252 |
128 | G>D | No |
ClinGen gnomAD |
|
|
rs1405493071 CA405748246 |
128 | G>S | No |
ClinGen TOPMed |
|
|
CA405748259 rs750102445 |
129 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1359370552 CA405748266 |
129 | P>L | No |
ClinGen TOPMed |
|
|
CA9424863 rs750102445 |
129 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA405748275 rs1160808587 |
130 | G>E | No |
ClinGen gnomAD |
|
|
CA405748309 rs755817911 |
132 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9424864 rs755817911 |
132 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1464204003 CA405748322 |
133 | G>D | No |
ClinGen gnomAD |
|
|
CA405748342 rs1156264264 |
135 | R>* | No |
ClinGen TOPMed |
|
|
VAR_040970 CA9424865 rs56099436 |
135 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1415618534 CA405748357 |
136 | G>D | No |
ClinGen gnomAD |
|
|
CA405748362 rs768151950 |
137 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424867 rs768151950 |
137 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200644444 CA9424866 |
137 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329101367 CA405748366 |
138 | F>I | No |
ClinGen gnomAD |
|
|
rs1232842505 CA405748378 |
138 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs35655056 CA405748383 |
139 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35655056 VAR_040971 CA9424869 |
139 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA405748387 rs1468813066 |
139 | A>V | No |
ClinGen gnomAD |
|
|
CA9424871 rs565180656 |
140 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759957708 CA9424872 |
140 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1458588314 CA405748405 |
141 | H>P | No |
ClinGen gnomAD |
|
|
rs770197891 CA9424873 |
142 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1432908413 CA405748425 |
142 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775774944 CA9424874 |
143 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377841195 CA405748444 |
144 | A>T | No |
ClinGen gnomAD |
|
|
CA9424875 rs762945816 |
144 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424877 rs751472331 |
145 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388321963 CA405748474 |
147 | G>D | No |
ClinGen gnomAD |
|
|
CA9424879 rs199622580 |
147 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405748482 rs1360814284 |
148 | S>C | No |
ClinGen TOPMed |
|
|
rs1385941059 CA405748493 |
148 | S>R | No |
ClinGen gnomAD |
|
|
CA308208375 rs1051832463 |
150 | D>H | No |
ClinGen TOPMed |
|
|
rs755902447 CA9424881 |
152 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765954953 CA9424882 |
152 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754471124 CA9424884 |
153 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554223370 CA9424883 |
153 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs968639491 CA308208407 |
154 | A>S | No |
ClinGen gnomAD |
|
|
rs968639491 CA405748568 |
154 | A>T | No |
ClinGen gnomAD |
|
|
CA405748578 rs1488397471 |
154 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778447389 CA9424885 |
155 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747580526 CA9424886 |
156 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs757888972 CA9424887 |
158 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405748663 rs1172447216 |
159 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs530175554 CA9424888 |
159 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405748670 rs1366638099 |
160 | P>S | No |
ClinGen gnomAD |
|
|
CA405748692 rs1457266820 |
161 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746301160 CA9424889 |
162 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs746301160 CA405748714 |
162 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA405748768 rs1398417524 |
165 | E>G | No |
ClinGen gnomAD |
|
|
CA9424890 rs770215974 |
165 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775587047 CA9424891 |
166 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA308208478 rs1014120513 |
167 | S>* | No |
ClinGen TOPMed |
|
|
CA9424892 rs749475555 |
167 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs988259802 CA308208479 |
168 | G>A | No |
ClinGen TOPMed |
|
|
rs1311281891 CA405748818 |
168 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774525556 CA9424894 |
169 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308208486 rs923254806 |
169 | G>S | No |
ClinGen TOPMed |
|
|
CA405748855 rs1487486802 |
170 | P>L | No |
ClinGen gnomAD |
|
|
CA308208491 rs770137810 |
170 | P>T | No |
ClinGen gnomAD |
|
|
CA405748877 rs1214025078 |
171 | Q>H | No |
ClinGen gnomAD |
|
|
rs761855355 CA9424895 |
172 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs986556945 CA405748883 |
172 | E>K | No |
ClinGen gnomAD |
|
|
rs986556945 CA308208509 |
172 | E>Q | No |
ClinGen gnomAD |
|
|
CA405748918 rs1187747321 |
174 | S>A | No |
ClinGen gnomAD |
|
|
rs1024683004 CA308208523 |
174 | S>F | No |
ClinGen TOPMed |
|
|
rs753466427 CA9424900 |
175 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424898 rs760479863 |
175 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754701074 CA9424901 |
176 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA308208580 rs764775854 |
178 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373168150 CA9424903 |
178 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764775854 CA9424902 |
178 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433042674 CA405749027 |
179 | P>L | No |
ClinGen gnomAD |
|
|
rs746317635 CA9424906 |
180 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs746317635 CA9424907 |
180 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs376102097 CA9424909 |
182 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1457137920 CA405749098 |
184 | D>N | No |
ClinGen TOPMed |
|
|
CA405749111 rs1255863875 |
184 | D>V | No |
ClinGen TOPMed |
|
|
rs772084871 CA9424913 |
186 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600402574 CA405749149 |
187 | T>P | No |
ClinGen Ensembl |
|
|
CA405749163 rs1182389406 |
188 | P>L | No |
ClinGen gnomAD |
|
|
rs1482615744 CA405749155 |
188 | P>T | No |
ClinGen gnomAD |
|
|
CA308208679 rs866028957 |
189 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA405749165 rs866028957 |
189 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9424915 rs760567854 |
189 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA405749188 rs1364975023 |
190 | P>H | No |
ClinGen gnomAD |
|
|
rs776539215 CA9424917 |
191 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9424916 rs766196742 |
191 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405749207 rs776539215 |
191 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1600402703 CA405749218 |
192 | G>V | No |
ClinGen Ensembl |
|
|
CA9424918 rs759238718 |
193 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA405749230 rs1174163765 |
194 | A>S | No |
ClinGen gnomAD |
|
|
rs868095598 CA308208706 |
194 | A>V | No |
ClinGen Ensembl |
|
|
CA405749235 rs1315269764 |
195 | S>G | No |
ClinGen TOPMed |
|
|
CA9424919 rs765006110 |
195 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405749248 rs1339345506 |
197 | A>T | No |
ClinGen gnomAD |
|
|
rs752329610 CA9424920 |
197 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA405749266 rs1355568157 |
200 | A>E | No |
ClinGen TOPMed |
|
|
CA9424922 rs763646682 |
200 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405749268 rs1355568157 |
200 | A>V | No |
ClinGen TOPMed |
|
|
CA9424923 rs750995473 |
201 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756680888 CA9424924 |
202 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754282739 CA9424926 |
203 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9424925 rs370979504 |
203 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9424928 rs779124840 |
206 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405749307 rs1180212400 |
207 | T>I | No |
ClinGen TOPMed |
|
|
rs748323857 CA9424929 |
208 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405749326 rs1189702999 |
209 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1189702999 CA405749322 |
209 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA405749324 rs1189702999 |
209 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9424930 rs772172835 |
209 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424932 rs747070446 |
210 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA405749348 rs1178645537 |
211 | A>V | No |
ClinGen gnomAD |
|
|
rs770959716 CA9424933 |
212 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1332572465 CA405749371 |
213 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1332572465 CA405749369 |
213 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1307552575 CA405749402 |
215 | H>Q | No |
ClinGen TOPMed |
|
|
rs1272786039 CA405749414 |
216 | P>L | No |
ClinGen gnomAD |
|
|
rs769417656 CA9424936 |
216 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223638493 CA405749424 |
217 | S>F | No |
ClinGen gnomAD |
|
|
CA9424937 rs538174548 |
218 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA308208826 rs1030392612 |
218 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9424938 rs200780929 |
219 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200780929 CA9424939 |
219 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9424940 rs751160538 |
220 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA405749465 rs1439416196 |
221 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs963375375 CA308209225 |
222 | G>E | No |
ClinGen TOPMed |
|
|
rs370852872 CA308209224 |
222 | G>R | No |
ClinGen gnomAD |
|
|
CA308209232 rs138516359 |
223 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371684690 CA9424964 |
223 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375872670 CA9424965 |
224 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454421051 CA405749883 |
225 | H>Q | No |
ClinGen TOPMed |
|
|
rs755850117 CA308209237 |
225 | H>Y | No |
ClinGen TOPMed |
|
|
rs200391013 CA405749892 |
227 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200391013 CA308209249 |
227 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9424967 rs200391013 |
227 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405749898 rs1284215008 |
228 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1205900408 CA405749909 |
229 | P>A | No |
ClinGen gnomAD |
|
|
CA405749919 rs1456937800 |
230 | N>D | No |
ClinGen TOPMed |
|
|
rs1440711974 CA405749933 |
231 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1244139155 CA405749966 |
233 | S>* | No |
ClinGen TOPMed |
|
|
CA9424970 rs757380530 |
233 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs992974470 CA308209260 |
234 | A>T | No |
ClinGen Ensembl |
|
|
CA9424971 rs781089350 |
234 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405749978 rs1275720243 |
235 | G>R | No |
ClinGen TOPMed |
|
|
rs756166501 CA405749989 |
236 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424974 rs368557621 |
236 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756166501 CA9424973 |
236 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424976 rs768517050 |
237 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371973365 CA9424977 |
238 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA308209282 rs925592519 |
240 | P>T | No |
ClinGen Ensembl |
|
|
CA9424983 rs747718559 |
242 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1333505501 CA405750082 |
243 | S>F | No |
ClinGen gnomAD |
|
|
rs771728038 CA405750093 |
244 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771728038 CA9424984 |
244 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405750087 rs1387983605 |
244 | S>P | No |
ClinGen TOPMed |
|
|
CA405750103 rs1375812031 |
245 | S>F | No |
ClinGen gnomAD |
|
|
rs772648428 CA9424985 |
245 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA405750096 rs772648428 |
245 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9424987 rs765800551 |
247 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199929260 COSM3692745 CA9424988 |
248 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA405750128 rs1343038532 |
248 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
COSM1681014 CA405750169 rs1264355342 |
252 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs559867551 CA9424989 COSM1219144 |
252 | R>Q | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA405750176 rs1197263264 |
253 | A>T | No |
ClinGen gnomAD |
|
|
CA405750191 rs1237980433 |
254 | R>* | No |
ClinGen gnomAD |
|
|
rs764392821 CA9424993 |
254 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424992 rs764392821 |
254 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405750207 rs1182089317 |
255 | G>V | No |
ClinGen gnomAD |
|
|
CA405750216 rs1476789435 |
256 | A>V | No |
ClinGen gnomAD |
|
|
rs767754882 CA9424995 |
257 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1470928180 CA405750239 |
258 | S>N | No |
ClinGen gnomAD |
|
|
rs1329151787 CA405750256 |
260 | G>R | No |
ClinGen gnomAD |
|
|
rs1391754167 CA405750293 |
263 | G>* | No |
ClinGen gnomAD |
|
|
CA405750298 rs1331193086 |
263 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs754855816 CA405750334 |
266 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA405750329 rs749192033 |
266 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9424999 rs749192033 |
266 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754855816 CA9425000 |
266 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9425002 rs747955491 |
269 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425001 rs778616179 |
269 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405750386 rs1600404739 |
272 | A>V | No |
ClinGen Ensembl |
|
|
CA308209494 rs912960566 |
273 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA405750390 rs912960566 |
273 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9425004 rs771680726 |
273 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA9425005 rs200534045 |
274 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198179975 CA405750395 |
274 | P>L | No |
ClinGen gnomAD |
|
|
rs746527008 CA9425006 |
275 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168527608 CA405750399 |
275 | A>V | No |
ClinGen gnomAD |
|
|
CA405750406 rs1462346595 |
276 | C>F | No |
ClinGen gnomAD |
|
|
CA308209534 rs770370097 |
278 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425007 rs770370097 |
278 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405750424 rs1388264624 |
278 | P>S | No |
ClinGen gnomAD |
|
|
rs369318453 CA9425009 |
279 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769173911 CA405750447 |
280 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs769173911 CA9425012 |
280 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA405750454 rs1478020460 |
280 | A>V | No |
ClinGen TOPMed |
|
|
rs774626054 CA9425013 |
281 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1308578980 CA405750477 |
283 | V>F | No |
ClinGen gnomAD |
|
|
CA308209577 rs1038274034 |
284 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs762221482 CA9425014 |
285 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750587242 CA9425016 |
286 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405750518 rs750587242 |
286 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425019 rs766531156 |
287 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9425018 rs766531156 |
287 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9425020 rs530921873 |
288 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs778898769 CA9425021 |
289 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425022 rs778898769 |
289 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375957288 CA9425023 |
290 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746614959 CA9425025 |
290 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425024 rs375957288 |
290 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405750562 rs1164526311 |
291 | S>L | No |
ClinGen gnomAD |
|
|
rs935744898 CA308209620 |
293 | Q>P | No |
ClinGen Ensembl |
|
|
rs912928720 CA308209641 |
294 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs745358857 CA9425029 |
294 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769098772 CA9425030 |
295 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA405750637 rs1384433742 |
298 | R>G | No |
ClinGen gnomAD |
|
|
CA9425031 rs774915460 |
298 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1414231617 CA405750690 |
303 | Q>P | No |
ClinGen TOPMed |
|
|
CA405750719 rs773602585 |
305 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs773602585 CA9425034 |
305 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772419141 CA9425033 |
305 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761023026 CA9425036 |
306 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425035 rs761023026 |
306 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259656573 CA405750758 |
309 | Q>* | No |
ClinGen gnomAD |
|
|
rs1485878278 CA405750764 |
309 | Q>H | No |
ClinGen gnomAD |
|
|
CA405750834 rs1443841955 |
315 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs143998317 CA9425039 |
316 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752622915 CA9425041 |
318 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752622915 CA405750868 |
318 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425042 rs147291859 |
318 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147291859 CA9425043 |
318 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9425046 rs780808053 |
321 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA405750956 rs1204259885 |
324 | F>L | No |
ClinGen TOPMed |
|
|
rs1226392075 CA405750979 |
326 | K>R | No |
ClinGen gnomAD |
|
|
CA9425048 rs755582082 |
328 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748636101 CA9425050 |
329 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1009820145 CA308209776 COSM1494278 |
332 | T>M | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA405751074 rs1408964284 |
338 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776928227 CA9425055 |
338 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9425057 rs140420249 |
340 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9425058 rs775319564 |
341 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425059 rs762988217 |
341 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425060 rs149267288 |
343 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1225010846 CA405751118 |
345 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9425062 rs757038413 |
345 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA405751127 rs1322153184 |
347 | V>L | No |
ClinGen gnomAD |
|
|
rs547307282 CA9425065 |
349 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769009235 CA308209853 |
350 | K>E | No |
ClinGen Ensembl |
|
|
rs1187909327 CA405751156 |
351 | K>N | No |
ClinGen gnomAD |
|
|
CA9425067 rs748729158 |
355 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759004671 CA9425068 |
355 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243319570 CA405751187 |
356 | K>R | No |
ClinGen TOPMed |
|
|
rs778423246 CA9425069 |
358 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs747382740 CA9425070 |
359 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308209872 rs950809471 |
360 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777017835 CA9425072 |
360 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1373304040 CA405751216 |
361 | E>K | No |
ClinGen TOPMed |
|
|
CA308209885 rs1024956192 |
362 | L>M | No |
ClinGen TOPMed |
|
|
rs746064153 CA9425073 |
365 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171528629 CA405751249 |
366 | E>K | No |
ClinGen gnomAD |
|
|
CA405751272 rs1600408670 |
367 | V>L | No |
ClinGen Ensembl |
|
|
CA405751300 rs1277935204 |
371 | R>K | No |
ClinGen gnomAD |
|
|
rs760387391 CA9425103 |
372 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA308210912 rs958773706 |
374 | Q>* | No |
ClinGen TOPMed |
|
|
CA405751321 rs958773706 |
374 | Q>E | No |
ClinGen TOPMed |
|
|
CA9425104 rs766063962 |
374 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA405751333 rs759140387 |
375 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375220515 CA9425107 |
376 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs990267919 COSM3388969 CA308210945 |
379 | V>L | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9425109 rs757887007 |
382 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs781535597 CA9425110 |
383 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs146831773 CA9425112 |
383 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9425111 rs750866405 |
383 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158611940 CA405751392 |
384 | S>N | No |
ClinGen gnomAD |
|
|
rs142488595 CA308210988 |
385 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142488595 CA9425113 |
385 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405751410 rs1335937179 |
387 | V>L | No |
ClinGen gnomAD |
|
|
CA308211011 rs1040787494 |
388 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9425118 rs772066441 |
389 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772066441 CA9425119 |
389 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223439326 CA405751431 |
390 | E>D | No |
ClinGen gnomAD |
|
|
rs780200774 CA9425121 |
390 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9425122 rs776379222 |
391 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776379222 CA405751433 |
391 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425123 rs759303292 |
392 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996667654 CA308211078 |
393 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752311143 CA308211084 |
394 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752311143 CA9425125 |
394 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182024101 CA405751470 |
396 | E>D | No |
ClinGen gnomAD |
|
|
rs756518871 CA9425129 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA405751509 rs1282590172 |
403 | L>F | No |
ClinGen gnomAD |
|
|
CA308211100 rs946091588 |
404 | T>I | No |
ClinGen Ensembl |
|
|
rs146517848 CA9425131 |
406 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779104615 CA9425133 |
407 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405751549 rs1343788955 |
409 | H>R | No |
ClinGen gnomAD |
|
|
rs1284542433 CA405751556 |
410 | T>I | No |
ClinGen gnomAD |
|
|
CA9425136 rs777789997 |
411 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA405751576 rs1386287417 |
411 | R>S | No |
ClinGen gnomAD |
|
|
CA405751594 rs1313402397 |
414 | E>K | No |
ClinGen gnomAD |
|
|
CA9425162 rs748847669 |
417 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425161 rs775301295 |
417 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557625940 CA405751623 |
418 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs557625940 CA308211512 |
418 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1425103983 CA405751626 |
418 | A>V | No |
ClinGen gnomAD |
|
|
CA405751636 rs1486172958 |
420 | V>A | No |
ClinGen gnomAD |
|
|
rs370017586 CA405751635 |
420 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9425166 rs370017586 |
420 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374443098 CA9425168 |
426 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9425170 rs377696830 |
429 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158513218 CA405751693 |
430 | V>M | No |
ClinGen gnomAD |
|
|
rs1364406543 CA405751703 |
431 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1459295855 CA405751709 |
432 | H>R | No |
ClinGen gnomAD |
|
|
CA9425173 rs751655071 |
433 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453816270 CA405751726 |
433 | A>V | No |
ClinGen gnomAD |
|
|
CA405751740 rs1182917940 |
434 | Q>H | No |
ClinGen TOPMed |
|
|
rs1303115523 CA405751749 |
435 | G>D | No |
ClinGen gnomAD |
|
|
rs781291016 CA9425175 |
436 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs756000073 CA9425177 |
437 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9425178 rs780031319 |
438 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9425180 rs558235356 |
439 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375117492 CA9425179 |
439 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146720735 CA9425182 |
441 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760075494 CA9425185 |
444 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9425186 rs770265513 |
445 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770265513 CA405751885 |
445 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425190 rs751746391 |
448 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA308211656 rs965374784 |
450 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761821639 CA9425191 |
450 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9425225 rs556103177 |
454 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405752491 rs1343330204 |
457 | S>* | No |
ClinGen gnomAD |
|
|
CA9425226 rs772487274 |
459 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429887333 CA405752510 |
459 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA405752564 rs1244064390 COSM1219145 |
463 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1568531921 CA405752574 |
464 | Q>E | No |
ClinGen Ensembl |
|
|
rs1314628396 CA405752605 |
466 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA405752630 rs1357213223 |
468 | E>Q | No |
ClinGen gnomAD |
|
|
rs1486760526 CA405752659 |
470 | P>A | No |
ClinGen TOPMed |
|
|
CA308212516 COSM3692746 rs921822315 |
471 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs373414547 CA9425229 |
471 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209855787 CA405752687 |
472 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9425230 rs776546703 |
474 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA405752734 rs1384193191 |
476 | V>L | No |
ClinGen gnomAD |
|
|
CA405752747 rs1405100317 |
477 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1013284694 CA308212549 |
477 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1338270086 CA405752758 |
478 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs751162870 CA9425236 |
481 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs756791014 CA9425237 |
482 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs745343323 CA9425239 |
483 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3378725 CA9425238 rs780795083 |
483 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA405752844 rs1568532098 |
484 | P>R | No |
ClinGen Ensembl |
|
|
rs1313927637 CA405752862 |
485 | E>D | No |
ClinGen TOPMed |
|
|
CA405752852 rs1355690413 |
485 | E>Q | No |
ClinGen TOPMed |
|
|
rs1277879268 CA405752898 |
489 | R>C | No |
ClinGen gnomAD |
|
|
CA9425241 rs147024501 |
489 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9425242 rs748525257 |
491 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425244 rs773602567 |
492 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9425246 rs771040788 |
493 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs776830066 CA9425247 |
494 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9425250 rs775346914 |
495 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9425249 rs769776243 |
495 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746034918 CA9425286 |
496 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA308213354 rs774651046 |
500 | S>L | No |
ClinGen gnomAD |
|
|
CA9425288 rs780152907 |
508 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs749356499 CA405753641 |
510 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405753634 rs1170645214 COSM474699 |
510 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs141267072 CA405753643 |
511 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141267072 CA9425290 |
511 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405753657 rs1294683115 |
513 | P>T | No |
ClinGen gnomAD |
|
|
CA9425293 rs368539931 |
514 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282615550 CA405753669 |
515 | Y>C | No |
ClinGen Ensembl |
|
|
CA405753680 rs1262833048 |
516 | F>L | No |
ClinGen TOPMed |
|
|
CA308213367 rs956898319 |
517 | N>H | No |
ClinGen Ensembl |
|
|
CA405753686 rs375810830 |
517 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308213374 rs988114626 |
517 | N>S | No |
ClinGen TOPMed |
|
|
CA9425297 rs372098486 |
518 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA405753702 rs1443199086 |
520 | P>A | No |
ClinGen TOPMed |
|
|
rs1568533312 CA405753709 |
521 | L>F | No |
ClinGen Ensembl |
|
|
rs759054540 CA9425299 |
521 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308213408 rs111768373 |
524 | M>I | No |
ClinGen Ensembl |
|
|
rs764714264 CA9425300 |
524 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs751964232 CA9425301 |
525 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA308213418 rs11559037 |
526 | M>I | No |
ClinGen Ensembl |
|
|
rs757669503 CA9425302 |
528 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1247186790 CA405753756 |
528 | R>W | No |
ClinGen gnomAD |
|
|
rs1241507210 CA405753761 |
529 | D>N | No |
ClinGen gnomAD |
|
|
rs762161485 CA308213423 |
530 | N>K | No |
ClinGen Ensembl |
|
|
CA9425304 rs750774461 |
532 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA405753788 rs1165613695 |
533 | P>L | No |
ClinGen gnomAD |
|
|
rs756382524 CA9425306 |
534 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756382524 CA9425305 |
534 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749373073 CA9425307 |
534 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159019340 CA405753793 |
535 | L>M | No |
ClinGen TOPMed |
|
|
CA9425308 rs754991042 |
537 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308213448 rs571670873 |
538 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1322180722 CA405753821 |
539 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1600417144 CA405753823 |
539 | H>Q | No |
ClinGen Ensembl |
|
|
CA405753820 rs1322180722 |
539 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9425309 rs778929736 |
540 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1340327454 CA405753847 |
541 | V>A | No |
ClinGen gnomAD |
|
|
CA308214026 rs1039856098 |
541 | V>L | No |
ClinGen TOPMed |
|
|
rs1600418998 CA405753854 |
542 | S>L | No |
ClinGen Ensembl |
|
|
rs1050890684 CA308214028 |
544 | S>F | No |
ClinGen gnomAD |
|
|
CA308214033 rs921468342 |
546 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM403381 rs758450773 CA9425348 |
546 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM403381 rs758450773 CA405753876 |
546 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs777597501 CA405753889 |
548 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1489035007 CA405753905 |
551 | R>C | No |
ClinGen gnomAD |
|
|
CA9425350 rs200026990 |
551 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs911935205 CA308214041 |
554 | V>A | No |
ClinGen gnomAD |
|
|
CA405753924 rs56084716 |
555 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9425352 rs56084716 |
555 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9425353 rs745642110 |
555 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470273258 CA405753927 |
556 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9425354 rs769395290 |
559 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA308214108 rs1010332682 |
560 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs571403056 CA9425355 |
560 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405753958 rs1388713513 |
561 | A>P | No |
ClinGen TOPMed |
|
|
rs1388713513 CA405753957 |
561 | A>T | No |
ClinGen TOPMed |
|
|
rs748759891 CA9425356 |
562 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405753977 rs1228028434 |
564 | A>D | No |
ClinGen gnomAD |
|
|
CA405753986 rs1453291094 |
565 | E>D | No |
ClinGen TOPMed |
|
|
CA9425359 rs150747591 |
565 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405753980 rs150747591 |
565 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405753995 rs1289191608 |
567 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs771416465 CA9425360 |
569 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308214129 rs1024518462 |
571 | F>Y | No |
ClinGen TOPMed |
|
|
rs149210444 CA9425362 |
573 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9425363 rs149210444 |
573 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1464727328 CA405754038 |
574 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405754047 rs1187605725 |
575 | A>V | No |
ClinGen gnomAD |
|
|
CA9425364 rs752919337 |
576 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs762977178 CA9425365 COSM241038 |
577 | P>L | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1450840428 CA405754055 |
577 | P>S | No |
ClinGen gnomAD |
|
|
rs780369572 CA405754061 |
578 | P>L | No |
ClinGen gnomAD |
|
|
CA308214140 rs780369572 |
578 | P>R | No |
ClinGen gnomAD |
|
|
rs751663915 CA9425367 |
578 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1273151995 CA405754063 |
579 | A>P | No |
ClinGen TOPMed |
|
|
CA9425368 rs757318639 |
581 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781266929 CA9425369 |
582 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781266929 CA9425370 |
582 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9425372 rs779594548 |
584 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266769169 CA405754102 |
585 | M>I | No |
ClinGen gnomAD |
|
|
CA9425374 rs754554761 |
585 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA9425375 rs778454309 |
586 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9425376 rs747655225 |
586 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747655225 CA9425377 |
586 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270356955 CA405754113 |
587 | Q>R | No |
ClinGen gnomAD |
|
|
CA9425378 rs777065908 |
589 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308214169 rs988897964 |
589 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9425379 rs746243695 |
590 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA405754132 rs746243695 |
590 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs770158547 CA9425380 |
591 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with O96013
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR48015 | SERINE/THREONINE-PROTEIN KINASE TAO |
| PANTHER Subfamily | PTHR48015:SF17 | SERINE_THREONINE-PROTEIN KINASE PAK 4 |
| PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
| PANTHER Pathway Category |
Inflammation mediated by chemokine and cytokine signaling pathway PAK Cytoskeletal regulation by Rho GTPase PAK |
|
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| 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. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cadherin binding involved in cell-cell adhesion | Any cadherin binding that occurs as part of the process of cell-cell adhesion. |
| 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. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cellular response to organic cyclic compound | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. |
| cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| dendritic spine development | The process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of endothelial cell apoptotic process | Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process. |
| positive regulation of angiogenesis | Any process that activates or increases angiogenesis. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
| regulation of MAPK cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade. |
| 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. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12469 | SKM1 | Serine/threonine-protein kinase SKM1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q08E52 | PAK1 | Serine/threonine-protein kinase PAK 1 | Bos taurus (Bovine) | SS |
| Q7YQL4 | PAK3 | Serine/threonine-protein kinase PAK 3 | Pan troglodytes (Chimpanzee) | SS |
| Q9VXE5 | mbt | Serine/threonine-protein kinase PAK mbt | Drosophila melanogaster (Fruit fly) | PR |
| Q13043 | STK4 | Serine/threonine-protein kinase 4 | Homo sapiens (Human) | EV |
| Q13188 | STK3 | Serine/threonine-protein kinase 3 | Homo sapiens (Human) | SS |
| Q9NQU5 | PAK6 | Serine/threonine-protein kinase PAK 6 | Homo sapiens (Human) | EV |
| Q9P286 | PAK5 | Serine/threonine-protein kinase PAK 5 | Homo sapiens (Human) | EV |
| Q13177 | PAK2 | Serine/threonine-protein kinase PAK 2 | Homo sapiens (Human) | EV |
| O75914 | PAK3 | Serine/threonine-protein kinase PAK 3 | Homo sapiens (Human) | SS |
| Q13153 | PAK1 | Serine/threonine-protein kinase PAK 1 | Homo sapiens (Human) | EV |
| O95819 | MAP4K4 | Mitogen-activated protein kinase kinase kinase kinase 4 | Homo sapiens (Human) | PR |
| Q8CIN4 | Pak2 | Serine/threonine-protein kinase PAK 2 | Mus musculus (Mouse) | SS |
| O88643 | Pak1 | Serine/threonine-protein kinase PAK 1 | Mus musculus (Mouse) | SS |
| Q61036 | Pak3 | Serine/threonine-protein kinase PAK 3 | Mus musculus (Mouse) | SS |
| Q3ULB5 | Pak6 | Serine/threonine-protein kinase PAK 6 | Mus musculus (Mouse) | PR |
| Q8C015 | Pak5 | Serine/threonine-protein kinase PAK 5 | Mus musculus (Mouse) | SS |
| Q8BTW9 | Pak4 | Serine/threonine-protein kinase PAK 4 | Mus musculus (Mouse) | PR |
| Q62829 | Pak3 | Serine/threonine-protein kinase PAK 3 | Rattus norvegicus (Rat) | SS |
| Q64303 | Pak2 | Serine/threonine-protein kinase PAK 2 | Rattus norvegicus (Rat) | SS |
| P35465 | Pak1 | Serine/threonine-protein kinase PAK 1 | Rattus norvegicus (Rat) | SS |
| D4A280 | Pak5 | Serine/threonine-protein kinase PAK 5 | Rattus norvegicus (Rat) | SS |
| Q17850 | pak-1 | Serine/threonine-protein kinase pak-1 | Caenorhabditis elegans | PR |
| G5EGQ3 | max-2 | Serine/threonine-protein kinase max-2 | Caenorhabditis elegans | SS |
| G5EFU0 | pak-2 | Serine/threonine-protein kinase pak-2 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFGKRKKRVE | ISAPSNFEHR | VHTGFDQHEQ | KFTGLPRQWQ | SLIEESARRP | KPLVDPACIT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SIQPGAPKTI | VRGSKGAKDG | ALTLLLDEFE | NMSVTRSNSL | RRDSPPPPAR | ARQENGMPEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PATTARGGPG | KAGSRGRFAG | HSEAGGGSGD | RRRAGPEKRP | KSSREGSGGP | QESSRDKRPL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SGPDVGTPQP | AGLASGAKLA | AGRPFNTYPR | ADTDHPSRGA | QGEPHDVAPN | GPSAGGLAIP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QSSSSSSRPP | TRARGAPSPG | VLGPHASEPQ | LAPPACTPAA | PAVPGPPGPR | SPQREPQRVS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HEQFRAALQL | VVDPGDPRSY | LDNFIKIGEG | STGIVCIATV | RSSGKLVAVK | KMDLRKQQRR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ELLFNEVVIM | RDYQHENVVE | MYNSYLVGDE | LWVVMEFLEG | GALTDIVTHT | RMNEEQIAAV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CLAVLQALSV | LHAQGVIHRD | IKSDSILLTH | DGRVKLSDFG | FCAQVSKEVP | RRKSLVGTPY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| WMAPELISRL | PYGPEVDIWS | LGIMVIEMVD | GEPPYFNEPP | LKAMKMIRDN | LPPRLKNLHK |
| 550 | 560 | 570 | 580 | 590 | |
| VSPSLKGFLD | RLLVRDPAQR | ATAAELLKHP | FLAKAGPPAS | IVPLMRQNRT | R |