General Structure Information
| PDB ID | 4e3c |
| HGNC Gene Label(s) | IKBKB |
| Structure Name | x-ray crystal structure of human ikk2 in an active conformation |
| Resolution | 3.98Å |
| Reference | AUTH S.POLLEY,D.B.HUANG,A.V.HAUENSTEIN,A.J.FUSCO,X.ZHONG,D.VU,AUTH 2 A.HOFFMANN,I.V.VERMA,G.GHOSH,T.HUAFORDTITL X-RAY CRYSTAL STRUCTURE OF HUMAN IKK2 IN AN ACTIVETITL 2 CONFORMATIONREF PLOS.BIOL. 2013REFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 624 |
| Number Of SNVs | 110 |
| Number Of Permutations | 86306 |
| Optimal Distance Threshold | 43.0 |
| K Statistic | 0.547 |
| p-value | 0.71 |
COSMIC
| Number Of Residues | 624 |
| Number Of SNVs | 10 |
| Number Of Permutations | 12572 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.067 |
| p-value | 0.949 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 110 |
| Number Of COSMIC SNVs | 11 |
| Optimal Distance Threshold | 9.0 |
| K Statistic | 0.053 |
| p-value | 0.883 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 8:42129675 | E>D | E:19 | (-108.66, 22.03, -89.20) | |
| 8:42129677 | R>L | E:20 | (-112.60, 22.10, -92.01) | |
| 8:42146153 | E>G | E:36 | (-107.28, 18.85, -70.87) | |
| 8:42146158 | G>R | E:38 | (-107.06, 15.22, -75.83) | |
| 8:42146159 | G>D | E:38 | (-107.06, 15.22, -75.83) | |
| 8:42146162 | E>G | E:39 | (-110.98, 14.22, -76.46) | |
| 8:42146185 | R>W | E:47 | (-122.84, 25.06, -94.90) | |
| 8:42146194 | L>F | E:50 | (-132.23, 24.92, -95.34) | |
| 8:42146200 | P>A | E:52 | (-138.52, 21.63, -93.77) | |
| 8:42146204 | rs201288942 | R>Q | E:53 | (-136.16, 17.85, -97.51) |
| 8:42146216 | R>Q | E:57 | (-133.94, 14.37, -96.07) | |
| 8:42147688 | N>S | E:72 | (-112.62, 1.28, -93.20) | |
| 8:42147693 | V>M | E:74 | (-116.08, 7.60, -89.30) | |
| 8:42147707 | D>E | E:78 | (-121.60, 10.88, -78.00) | |
| 8:42147720 | rs200048037 | M>V | E:83 | (-121.45, 22.47, -75.90) |
| 8:42147739 | N>S | E:89 | (-127.81, 26.87, -86.50) | |
| 8:42147790 | K>R | E:106 | (-101.46, 14.54, -99.07) | |
| 8:42150994 | rs201303042 | R>W | E:118 | (-93.68, 2.28, -108.84) |
| 8:42150995 | rs139712776 | R>Q | E:118 | (-93.68, 2.28, -108.84) |
| 8:42150999 | E>D | E:119 | (-97.64, 0.65, -105.25) | |
| 8:42151010 | rs200759910 | L>P | E:123 | (-104.22, -4.06, -102.70) |
| 8:42162711 | A>V | E:132 | (-117.00, -0.03, -96.85) | |
| 8:42163882 | L>V | E:167 | (-121.64, 10.46, -95.64) | |
| 8:42163905 | D>E | E:174 | (-136.12, 2.67, -97.17) | |
| 8:42166464 | rs147591709 | Y>H | E:205 | (-120.63, -0.79, -107.88) |
| 8:42166497 | rs200416995 | I>L | E:216 | (-103.89, 1.99, -110.64) |
| 8:42166501 | rs201023733 | T>M | E:217 | (-103.38, 4.91, -113.71) |
| 8:42166509 | COSM1552649 | R>W | E:220 | (-109.63, 10.17, -114.20) |
| 8:42166525 | rs200288567 | N>S | E:225 | (-111.36, 17.67, -122.31) |
| 8:42171854 | rs200571498 | R>Q | E:236 | (-121.38, 7.68, -121.76) |
| 8:42171865 | rs201052871 | E>K | E:240 | (-119.50, -0.93, -123.11) |
| 8:42171877 | V>I | E:244 | (-108.43, 4.07, -121.88) | |
| 8:42171878 | V>A | E:244 | (-108.43, 4.07, -121.88) | |
| 8:42171904 | rs140074007 | V>L | E:253 | (-109.98, 10.60, -129.08) |
| 8:42171914 | S>L | E:256 | (-108.90, 1.33, -124.63) | |
| 8:42171916 | rs528587499 | S>G | E:257 | (-109.57, -2.29, -123.06) |
| 8:42171917 | rs372527642 | S>N | E:257 | (-109.57, -2.29, -123.06) |
| 8:42171932 | P>L | E:262 | (-97.58, 4.19, -117.81) | |
| 8:42171935 | rs201211235 | N>S | E:263 | (-98.71, 1.81, -113.52) |
| 8:42171936 | N>K | E:263 | (-98.71, 1.81, -113.52) | |
| 8:42173733 | L>R | E:269 | (-102.54, -8.30, -110.26) | |
| 8:42173742 | rs200841053 | R>Q | E:272 | (-107.47, -10.85, -112.82) |
| 8:42173747 | rs200531993 | E>K | E:274 | (-107.52, -5.08, -117.14) |
| 8:42173781 | P>R | E:285 | (-125.26, -4.52, -114.03) | |
| 8:42173805 | rs200322650 COSM3900279 |
T>M | E:293 | (-118.29, -15.56, -111.68) |
| 8:42173808 | Y>C | E:294 | (-121.15, -13.26, -110.02) | |
| 8:42173814 | rs186203343 | P>L | E:296 | (-124.78, -10.39, -108.65) |
| 8:42173843 | rs140200494 | I>V | E:306 | (-108.51, -10.51, -107.23) |
| 8:42173851 | rs201429847 | N>K | E:308 | (-107.97, -13.66, -101.40) |
| 8:42173854 | L>F | E:309 | (-104.43, -14.35, -104.99) | |
| 8:42174237 | rs201912118 | I>V | E:314 | (-90.07, -16.47, -110.98) |
| 8:42174238 | rs200044839 | I>T | E:314 | (-90.07, -16.47, -110.98) |
| 8:42174253 | T>M | E:319 | (-83.39, -12.56, -120.07) | |
| 8:42174268 | T>I | E:324 | (-95.93, -13.52, -111.90) | |
| 8:42174273 | P>S | E:326 | (-100.84, -17.66, -110.11) | |
| 8:42174277 | V>G | E:327 | (-100.17, -20.19, -106.41) | |
| 8:42174325 | D>G | E:343 | (-93.72, -19.46, -120.16) | |
| 8:42174328 | rs201849681 | T>M | E:344 | (-88.89, -19.15, -120.14) |
| 8:42174342 | E>K | E:349 | (-84.23, -31.17, -115.89) | |
| 8:42174345 | D>N | E:350 | (-81.93, -26.83, -116.75) | |
| 8:42174376 | rs202120081 | A>V | E:360 | (-82.60, -23.94, -102.30) |
| 8:42174385 | COSM240212 | P>R | E:363 | (-88.85, -30.25, -102.72) |
| 8:42174387 | D>N | E:364 | (-91.17, -31.59, -99.63) | |
| 8:42174394 | P>L | E:366 | (-95.67, -26.81, -101.52) | |
| 8:42175209 | V>A | E:387 | (-83.77, -15.54, -107.94) | |
| 8:42175221 | rs372924645 | D>G | E:391 | (-77.79, -25.34, -116.39) |
| 8:42175222 | D>E | E:391 | (-77.79, -25.34, -116.39) | |
| 8:42175226 | S>C | E:393 | (-71.97, -20.79, -120.17) | |
| 8:42175231 | K>N | E:394 | (-73.83, -15.80, -120.04) | |
| 8:42175260 | rs200978518 COSM362615 |
R>Q | E:404 | (-82.76, -6.86, -123.05) |
| 8:42175272 | rs543940041 | E>A | E:408 | (-91.31, 1.87, -123.30) |
| 8:42175284 | rs368737022 | C>S | E:412 | (-92.13, 8.79, -124.44) |
| 8:42175289 | rs375520322 COSM3900280 |
L>F | E:414 | (-94.98, 9.29, -129.62) |
| 8:42176082 | K>R | E:418 | (-90.16, 15.21, -131.59) | |
| 8:42176093 | COSM3382256 | A>T | E:422 | (-94.53, 21.09, -125.71) |
| 8:42176096 | F>V | E:423 | (-96.71, 24.96, -125.00) | |
| 8:42176101 | F>L | E:424 | (-98.62, 21.48, -118.99) | |
| 8:42176120 | G>S | E:431 | (-92.31, 11.94, -115.30) | |
| 8:42176135 | rs574886589 | S>G | E:436 | (-88.25, 4.92, -116.79) |
| 8:42176136 | S>T | E:436 | (-88.25, 4.92, -116.79) | |
| 8:42176148 | L>P | E:440 | (-83.75, 1.15, -115.69) | |
| 8:42176165 | rs202136671 COSM1210456 |
R>W | E:446 | (-85.75, -6.65, -109.48) |
| 8:42176166 | rs200485393 | R>Q | E:446 | (-85.75, -6.65, -109.48) |
| 8:42176175 | Q>R | E:449 | (-81.14, -9.85, -105.39) | |
| 8:42176798 | L>F | E:459 | (-70.81, -19.57, -101.21) | |
| 8:42176813 | rs141839189 | C>R | E:464 | (-70.50, -27.20, -97.17) |
| 8:42176814 | C>Y | E:464 | (-70.50, -27.20, -97.17) | |
| 8:42176837 | M>V | E:472 | (-62.82, -36.27, -94.62) | |
| 8:42176846 | rs150799158 | M>V | E:475 | (-58.48, -40.13, -94.63) |
| 8:42176850 | COSM169675 | S>F | E:476 | (-55.65, -40.72, -97.49) |
| 8:42176862 | K>R | E:480 | (-50.64, -45.46, -97.95) | |
| 8:42176895 | rs200661427 | Q>R | E:491 | (-41.13, -57.29, -93.60) |
| 8:42176918 | E>K | E:499 | (-34.43, -67.14, -88.99) | |
| 8:42176927 | rs115698972 | E>K | E:502 | (-32.47, -75.00, -88.69) |
| 8:42177162 | R>W | E:526 | (-55.41, -45.30, -103.36) | |
| 8:42177163 | rs2272736 | R>Q | E:526 | (-55.41, -45.30, -103.36) |
| 8:42178259 | rs147186110 | E>K | E:529 | (-54.75, -40.22, -107.40) |
| 8:42178274 | rs201840157 | V>I | E:534 | (-55.64, -31.79, -103.46) |
| 8:42178281 | rs111715123 | R>Q | E:536 | (-56.56, -29.88, -109.71) |
| 8:42178301 | D>N | E:543 | (-59.73, -19.85, -108.36) | |
| 8:42178310 | D>N | E:546 | (-59.45, -15.19, -105.99) | |
| 8:42178350 | T>M | E:559 | (-73.95, 5.76, -112.31) | |
| 8:42178355 | D>H | E:561 | (-77.90, 4.69, -108.61) | |
| 8:42178358 | rs201286348 | D>N | E:562 | (-76.98, 9.97, -109.90) |
| 8:42178362 | L>P | E:563 | (-79.05, 9.39, -113.56) | |
| 8:42179415 | E>K | E:564 | (-83.45, 8.13, -109.79) | |
| 8:42179591 | D>E | E:586 | (-88.46, 21.66, -123.65) | |
| 8:42179631 | S>G | E:600 | (-75.54, 3.23, -117.50) | |
| 8:42179642 | K>N | E:603 | (-71.70, -0.04, -118.38) | |
| 8:42179652 | V>M | E:607 | (-70.64, -5.93, -115.25) | |
| 8:42179655 | I>F | E:608 | (-73.92, -8.08, -113.41) | |
| 8:42179662 | rs200738579 | T>M | E:610 | (-69.17, -10.54, -116.57) |
| 8:42179896 | E>Q | E:624 | (-66.74, -31.29, -113.50) | |
| 8:42179910 | rs372663781 | K>N | E:628 | (-61.90, -36.70, -110.50) |
| 8:42179919 | E>D | E:631 | (-63.83, -42.24, -107.63) | |
| 8:42179921 | V>A | E:632 | (-60.32, -41.54, -105.61) | |
| 8:42179937 | N>K | E:637 | (-62.78, -46.85, -97.50) | |
| 8:42179941 | COSM71145 COSM1457158 |
D>N | E:639 | (-57.74, -50.95, -102.27) |
| 8:42179956 | V>I | E:644 | (-55.48, -54.49, -95.32) | |
| 8:42179959 | R>W | E:645 | (-60.62, -53.80, -92.29) | |
| 8:42179960 | rs146638252 | R>Q | E:645 | (-60.62, -53.80, -92.29) |
| 8:42183488 | S>G | E:663 | (-52.58, -82.45, -81.92) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 8:42162744 | COSM3382255 | H>R | E:143 | (-121.15, 8.16, -100.22) |
| 8:42163894 | COSM4944023 | K>E | E:171 | (-129.82, 7.17, -100.80) |
| 8:42163895 | COSM4944024 | K>T | E:171 | (-129.82, 7.17, -100.80) |
| 8:42171889 | COSM454582 | D>Y | E:248 | (-101.86, 10.40, -128.10) |
| 8:42174239 | COSM1755728 | I>M | E:314 | (-90.07, -16.47, -110.98) |
| 8:42174375 | COSM630 | A>S | E:360 | (-82.60, -23.94, -102.30) |
| 8:42174385 | COSM240212 | P>R | E:363 | (-88.85, -30.25, -102.72) |
| 8:42175289 | COSM3900280 | L>F | E:414 | (-94.98, 9.29, -129.62) |
| 8:42176093 | COSM3382256 | A>T | E:422 | (-94.53, 21.09, -125.71) |
| 8:42177163 | COSM150490 | R>Q | E:526 | (-55.41, -45.30, -103.36) |
| 8:42179632 | COSM1624028 | S>N | E:600 | (-75.54, 3.23, -117.50) |
| 8:42179941 | COSM71145 | D>N | E:639 | (-57.74, -50.95, -102.27) |