General Structure Information
| PDB ID | 3kul |
| HGNC Gene Label(s) | EPHA8 |
| Structure Name | kinase domain of human ephrin type-a receptor 8 (epha8) |
| Resolution | 2.15Å |
| Reference | AUTH J.R.WALKER,L.YERMEKBAYEVA,J.KANIA,C.BOUNTRA,J.WEIGELT,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,A.BOCHKAREV,S.DHE-PAGANONTITL KINASE DOMAIN OF HUMAN EPHRIN TYPE-A RECEPTOR 8 (EPHA8)REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 271 |
| Number Of SNVs | 83 |
| Number Of Permutations | 39320 |
| Optimal Distance Threshold | 15.0 |
| K Statistic | 0.165 |
| p-value | 0.247 |
COSMIC
| Number Of Residues | 271 |
| Number Of SNVs | 6 |
| Number Of Permutations | 1993 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.067 |
| p-value | 0.343 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 83 |
| Number Of COSMIC SNVs | 7 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | -0.151 |
| p-value | 0.723 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:22923921 | R>G | B:628 | (-20.60, -6.50, 12.49) | |
| 1:22923922 | R>Q | B:628 | (-20.60, -6.50, 12.49) | |
| 1:22923930 | COSM679202 | E>K | B:631 | (-23.28, -10.82, 0.41) |
| 1:22923951 | rs567750244 | E>K | B:638 | (-6.51, -8.50, -5.79) |
| 1:22923960 | rs373638442 | I>V | B:641 | (-1.53, -16.16, 1.15) |
| 1:22923963 | rs536702821 | G>S | B:642 | (-1.13, -19.23, 3.33) |
| 1:22924186 | C>G | B:650 | (-6.98, -12.66, 1.43) | |
| 1:22924192 | G>R | B:652 | (-8.60, -6.56, -1.50) | |
| 1:22924201 | R>W | B:655 | (-17.97, -4.57, -3.95) | |
| 1:22924202 | rs200774719 | R>Q | B:655 | (-17.97, -4.57, -3.95) |
| 1:22924219 | D>H | B:661 | (-14.50, 0.24, -3.35) | |
| 1:22924220 | COSM3750977 | D>V | B:661 | (-14.50, 0.24, -3.35) |
| 1:22924222 | V>L | B:662 | (-12.85, -0.59, 1.26) | |
| 1:22924234 | rs368786183 | I>L | B:666 | (-9.58, -11.55, 4.07) |
| 1:22924236 | I>M | B:666 | (-9.58, -11.55, 4.07) | |
| 1:22924238 | K>T | B:667 | (-7.99, -14.57, 8.76) | |
| 1:22924263 | rs373953943 | E>D | B:675 | (-17.76, -28.73, 15.09) |
| 1:22924273 | rs557674245 COSM4029304 |
R>W | B:679 | (-16.78, -21.46, 19.78) |
| 1:22924274 | rs562829959 | R>Q | B:679 | (-16.78, -21.46, 19.78) |
| 1:22924288 | E>K | B:684 | (-10.38, -13.61, 16.24) | |
| 1:22924292 | rs201485535 COSM533321 |
A>V | B:685 | (-14.25, -11.30, 15.53) |
| 1:22924300 | M>L | B:688 | (-11.46, -7.57, 16.40) | |
| 1:22924303 | COSM905222 | G>R | B:689 | (-15.52, -5.36, 17.45) |
| 1:22924312 | D>N | B:692 | (-12.64, 2.42, 18.53) | |
| 1:22924318 | rs542047673 | P>S | B:694 | (-6.16, 4.65, 16.75) |
| 1:22924324 | I>V | B:696 | (-6.37, -1.38, 17.29) | |
| 1:22924330 | rs141165537 | R>C | B:698 | (-10.97, -0.51, 10.97) |
| 1:22924331 | COSM3400446 | R>H | B:698 | (-10.97, -0.51, 10.97) |
| 1:22924336 | E>K | B:700 | (-14.35, -3.38, 7.85) | |
| 1:22924345 | V>I | B:703 | (-18.11, -14.03, 5.99) | |
| 1:22924646 | rs62642537 | R>C | B:707 | (-19.80, -24.24, 7.83) |
| 1:22924647 | COSM3400447 | R>H | B:707 | (-19.80, -24.24, 7.83) |
| 1:22924659 | rs541620093 | I>T | B:711 | (-12.01, -12.13, 9.90) |
| 1:22924661 | rs149392840 | V>M | B:712 | (-13.05, -8.50, 6.85) |
| 1:22924668 | COSM1667239 | E>G | B:714 | (-7.92, -1.90, 8.50) |
| 1:22924689 | L>P | B:721 | (6.87, -3.16, 11.57) | |
| 1:22925331 | T>A | B:727 | (12.29, -3.16, 3.00) | |
| 1:22925340 | G>R | B:730 | (17.58, 3.67, 7.57) | |
| 1:22925355 | rs200018942 | M>V | B:735 | (11.69, 10.89, 16.79) |
| 1:22925391 | rs200648943 | G>S | B:747 | (-2.86, -0.02, 21.96) |
| 1:22925397 | rs147240669 | R>C | B:749 | (-2.68, 3.09, 26.77) |
| 1:22925398 | rs201964877 | R>H | B:749 | (-2.68, 3.09, 26.77) |
| 1:22925411 | D>E | B:753 | (-7.00, -0.24, 30.04) | |
| 1:22925412 | L>M | B:754 | (-10.43, -3.23, 27.76) | |
| 1:22925419 | Y>C | B:756 | (-8.90, -8.15, 26.21) | |
| 1:22925428 | R>Q | B:759 | (-1.17, -15.29, 24.28) | |
| 1:22925439 | rs149930866 | A>T | B:763 | (6.55, -6.83, 14.50) |
| 1:22925442 | rs531451396 | R>C | B:764 | (5.42, -11.46, 13.89) |
| 1:22925443 | R>H | B:764 | (5.42, -11.46, 13.89) | |
| 1:22925446 | N>I | B:765 | (1.59, -9.38, 14.77) | |
| 1:22925448 | rs370473123 | V>I | B:766 | (2.68, -4.50, 13.99) |
| 1:22925454 | rs147123754 | V>I | B:768 | (2.28, -0.14, 8.63) |
| 1:22925455 | rs568027987 | V>A | B:768 | (2.28, -0.14, 8.63) |
| 1:22925490 | G>R | B:780 | (-6.41, -15.14, 18.53) | |
| 1:22925499 | rs202070589 | R>W | B:783 | (-7.43, -15.47, 25.26) |
| 1:22925500 | COSM1339981 | R>Q | B:783 | (-7.43, -15.47, 25.26) |
| 1:22925511 | D>Y | B:787 | (-10.97, -6.64, 37.33) | |
| 1:22925514 | D>N | B:788 | (-7.60, -8.46, 39.28) | |
| 1:22925518 | rs369475595 | P>L | B:789 | (-4.21, -5.75, 39.27) |
| 1:22925535 | T>A | B:795 | (-2.05, -21.91, 28.90) | |
| 1:22927154 | rs150954894 | G>S | B:797 | (-0.13, -25.21, 24.61) |
| 1:22927155 | rs537363813 | G>D | B:797 | (-0.13, -25.21, 24.61) |
| 1:22927157 | G>R | B:798 | (0.82, -23.23, 22.31) | |
| 1:22927160 | K>E | B:799 | (3.23, -22.73, 20.04) | |
| 1:22927172 | R>C | B:803 | (13.85, -15.90, 19.72) | |
| 1:22927173 | rs368283503 | R>H | B:803 | (13.85, -15.90, 19.72) |
| 1:22927179 | rs372280342 COSM1339982 |
T>M | B:805 | (7.80, -15.01, 25.41) |
| 1:22927196 | rs555665976 | A>T | B:811 | (7.72, -22.04, 32.14) |
| 1:22927202 | R>C | B:813 | (1.90, -21.65, 30.77) | |
| 1:22927203 | R>H | B:813 | (1.90, -21.65, 30.77) | |
| 1:22927214 | rs374741939 | S>P | B:817 | (-0.25, -7.32, 30.72) |
| 1:22927215 | S>L | B:817 | (-0.25, -7.32, 30.72) | |
| 1:22927223 | D>N | B:820 | (1.93, -8.35, 26.59) | |
| 1:22927224 | D>V | B:820 | (1.93, -8.35, 26.59) | |
| 1:22927238 | rs369148933 | G>S | B:825 | (10.68, -4.74, 24.18) |
| 1:22927241 | rs72651352 | V>M | B:826 | (11.26, -7.51, 21.86) |
| 1:22927274 | rs201817606 | R>W | B:837 | (15.43, -13.90, 14.46) |
| 1:22927275 | rs144705335 | R>Q | B:837 | (15.43, -13.90, 14.46) |
| 1:22927285 | W>C | B:840 | (22.79, -13.02, 15.51) | |
| 1:22927298 | rs569320402 COSM905225 |
R>W | B:845 | (17.75, -23.63, 24.53) |
| 1:22927299 | R>Q | B:845 | (17.75, -23.63, 24.53) | |
| 1:22927418 | rs146743212 | R>C | B:856 | (18.11, -9.44, 29.55) |
| 1:22927419 | rs149877319 | R>H | B:856 | (18.11, -9.44, 29.55) |
| 1:22927424 | P>S | B:858 | (21.98, -5.97, 22.93) | |
| 1:22927427 | rs200796590 | A>T | B:859 | (21.75, -1.87, 22.21) |
| 1:22927433 | M>V | B:861 | (24.05, 0.91, 16.48) | |
| 1:22927434 | rs567663699 | M>T | B:861 | (24.05, 0.91, 16.48) |
| 1:22927435 | rs35887233 | M>I | B:861 | (24.05, 0.91, 16.48) |
| 1:22927448 | A>T | B:866 | (16.24, 5.95, 27.42) | |
| 1:22927454 | COSM1501231 | H>Y | B:868 | (18.91, -0.25, 26.68) |
| 1:22927464 | M>R | B:871 | (14.34, -2.41, 26.17) | |
| 1:22927469 | D>N | B:873 | (12.54, -1.34, 32.70) | |
| 1:22927473 | C>S | B:874 | (10.12, -4.21, 29.80) | |
| 1:22927485 | D>G | B:878 | (9.14, -9.44, 38.96) | |
| 1:22927487 | rs147803148 | R>W | B:879 | (4.29, -11.13, 36.55) |
| 1:22927490 | A>T | B:880 | (5.47, -6.77, 39.05) | |
| 1:22927491 | COSM1743271 | A>V | B:880 | (5.47, -6.77, 39.05) |
| 1:22927497 | R>Q | B:882 | (7.69, -6.78, 33.96) | |
| 1:22927502 | R>C | B:884 | (1.10, -1.14, 34.84) | |
| 1:22927503 | rs62618734 | R>H | B:884 | (1.10, -1.14, 34.84) |
| 1:22927529 | rs544797559 | D>N | B:893 | (5.12, 10.74, 24.97) |
| 1:22927533 | rs138872731 | A>V | B:894 | (9.13, 12.36, 26.76) |
| 1:22927538 | rs375664082 | I>L | B:896 | (8.36, 12.71, 21.35) |
| 1:22927541 | rs146256137 | R>C | B:897 | (8.49, 16.31, 24.01) |
| 1:22927542 | R>H | B:897 | (8.49, 16.31, 24.01) | |
| 1:22927545 | S>N | B:898 | (11.75, 16.18, 25.69) | |
| 1:22927547 | P>S | B:899 | (13.76, 15.44, 22.45) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 1:22923963 | COSM1997357 | G>S | B:642 | (-1.13, -19.23, 3.33) |
| 1:22924177 | COSM1997359 | G>R | B:647 | (-5.26, -21.06, 6.44) |
| 1:22924668 | COSM1667239 | E>A | B:714 | (-7.92, -1.90, 8.50) |
| 1:22927253 | COSM1756864 | E>K | B:830 | (12.00, -6.10, 16.29) |
| 1:22927298 | COSM905225 | R>W | B:845 | (17.75, -23.63, 24.53) |
| 1:22927415 | COSM1559285 | Y>D | B:855 | (21.40, -12.08, 27.24) |
| 1:22927491 | COSM1743271 | A>V | B:880 | (5.47, -6.77, 39.05) |