General Structure Information
| PDB ID | 3i8e |
| HGNC Gene Label(s) | DDB1 |
| Structure Name | crystal structure of ddb1 in complex with the h-box motif of wdr42a |
| Resolution | 3.4Å |
| Reference | AUTH T.LI,E.I.ROBERT,P.C.VAN BREUGEL,M.STRUBIN,N.ZHENGTITL A PROMISCUOUS ALPHA-HELICAL MOTIF ANCHORS VIRAL HIJACKERSTITL 2 AND SUBSTRATE RECEPTORS TO THE CUL4-DDB1 UBIQUITIN LIGASETITL 3 MACHINERY.REF NAT.STRUCT.MOL.BIOL. V. 17 105 2010REFN ISSN 1545-9993PMID 19966799DOI 10.1038/NSMB.1719 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 1114 |
| Number Of SNVs | 153 |
| Number Of Permutations | 76937 |
| Optimal Distance Threshold | 7.0 |
| K Statistic | 0.009 |
| p-value | 0.303 |
COSMIC
| Number Of Residues | 1114 |
| Number Of SNVs | 12 |
| Number Of Permutations | 15850 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.061 |
| p-value | 0.655 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 153 |
| Number Of COSMIC SNVs | 10 |
| Optimal Distance Threshold | 13.0 |
| K Statistic | 0.052 |
| p-value | 0.216 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:61099151 | rs35597036 | S>L | A:25 | (6.85, -6.09, 70.70) |
| 11:61099148 | A>V | A:26 | (4.66, -8.02, 73.59) | |
| 11:61099146 | rs141900083 | E>K | A:27 | (7.36, -10.08, 72.30) |
| 11:61099129 | L>F | A:32 | (10.01, 5.35, 75.20) | |
| 11:61099125 | A>T | A:34 | (11.82, 12.17, 75.69) | |
| 11:61099115 | T>M | A:37 | (10.51, 17.91, 70.35) | |
| 11:61099107 | rs371829600 | E>Q | A:40 | (15.16, 8.77, 71.15) |
| 11:61099100 | Y>C | A:42 | (16.33, 3.58, 71.96) | |
| 11:61099098 | rs536135424 | V>M | A:43 | (15.00, -2.33, 71.78) |
| 11:61099067 | rs200876024 | K>R | A:53 | (11.66, 5.45, 64.57) |
| 11:61099052 | rs371977932 | Y>C | A:58 | (4.76, 19.65, 64.85) |
| 11:61099046 | K>T | A:60 | (7.62, 21.42, 74.75) | |
| 11:61099033 | M>I | A:64 | (5.85, 10.00, 78.11) | |
| 11:61099024 | F>L | A:67 | (-1.95, 3.06, 77.46) | |
| 11:61099023 | R>G | A:68 | (-1.08, -3.66, 77.48) | |
| 11:61099016 | K>R | A:70 | (-8.69, -4.74, 79.52) | |
| 11:61097546 | G>R | A:71 | (-8.12, -5.76, 74.09) | |
| 11:61097519 | L>V | A:80 | (0.16, 16.28, 76.88) | |
| 11:61097512 | rs370677190 | A>V | A:82 | (2.58, 22.17, 76.47) |
| 11:61097500 | A>V | A:86 | (-3.69, 15.11, 73.30) | |
| 11:61097498 | C>S | A:87 | (-2.03, 11.93, 71.75) | |
| 11:61097495 | rs142240695 | I>V | A:88 | (-3.49, 7.77, 71.81) |
| 11:61097487 | E>D | A:90 | (-0.12, 1.94, 67.49) | |
| 11:61097479 | Q>R | A:93 | (6.70, -3.09, 61.43) | |
| 11:61097465 | COSM300045 | I>V | A:98 | (8.97, 1.80, 60.42) |
| 11:61097459 | I>V | A:100 | (4.48, 6.14, 64.82) | |
| 11:61097452 | T>M | A:102 | (-2.76, 8.81, 65.49) | |
| 11:61097446 | A>V | A:104 | (-6.18, 9.49, 69.38) | |
| 11:61097052 | COSM296905 | R>H | A:111 | (-11.06, 29.45, 76.38) |
| 11:61097013 | I>S | A:124 | (-3.20, 6.25, 83.21) | |
| 11:61097014 | I>V | A:124 | (-3.20, 6.25, 83.21) | |
| 11:61096999 | R>W | A:129 | (-12.84, 2.58, 83.78) | |
| 11:61096983 | R>H | A:134 | (-2.61, 19.37, 88.11) | |
| 11:61096940 | D>E | A:148 | (-15.68, 5.55, 71.62) | |
| 11:61096897 | rs570670012 | H>Y | A:163 | (-1.09, 24.02, 95.96) |
| 11:61096870 | G>C | A:172 | (-7.29, -1.76, 94.88) | |
| 11:61094347 | COSM1509317 COSM1355218 |
V>I | A:190 | (-3.21, 13.00, 102.57) |
| 11:61094337 | Y>C | A:193 | (-11.31, 13.02, 96.23) | |
| 11:61094328 | S>C | A:196 | (-17.62, 8.36, 89.46) | |
| 11:61094307 | N>S | A:203 | (-17.64, 10.55, 95.56) | |
| 11:61094266 | S>T | A:217 | (7.20, 16.02, 96.73) | |
| 11:61094263 | M>V | A:218 | (6.85, 12.32, 95.16) | |
| 11:61093165 | G>V | A:227 | (-1.02, -1.10, 98.45) | |
| 11:61093166 | COSM94122 | G>W | A:227 | (-1.02, -1.10, 98.45) |
| 11:61093103 | I>V | A:248 | (11.58, 6.06, 107.75) | |
| 11:61091588 | N>H | A:262 | (11.45, 3.69, 88.92) | |
| 11:61091584 | COSM3450688 COSM193274 |
R>Q | A:263 | (7.75, -0.18, 89.74) |
| 11:61091500 | M>K | A:291 | (-0.06, -16.73, 105.31) | |
| 11:61091489 | V>I | A:295 | (1.09, -9.43, 101.76) | |
| 11:61091480 | K>E | A:298 | (7.70, -5.66, 109.65) | |
| 11:61090563 | rs138285473 | S>T | A:309 | (24.14, 11.85, 86.22) |
| 11:61090547 | rs200092392 | L>S | A:314 | (15.24, 6.99, 86.70) |
| 11:61090545 | T>A | A:315 | (14.42, 3.62, 83.79) | |
| 11:61090518 | V>I | A:324 | (20.28, 7.98, 83.92) | |
| 11:61090496 | rs373709587 | S>C | A:331 | (22.54, 10.84, 79.85) |
| 11:61090492 | Q>H | A:332 | (24.30, 7.59, 82.54) | |
| 11:61089844 | A>G | A:349 | (29.49, 2.86, 84.13) | |
| 11:61089815 | I>V | A:359 | (23.77, 26.08, 76.42) | |
| 11:61089098 | E>D | A:398 | (49.48, 16.17, 58.06) | |
| 11:61089100 | E>K | A:398 | (49.48, 16.17, 58.06) | |
| 11:61084024 | R>Q | A:414 | (51.80, -6.56, 51.29) | |
| 11:61084025 | R>W | A:414 | (51.80, -6.56, 51.29) | |
| 11:61084015 | COSM138822 | P>R | A:417 | (54.58, -12.06, 52.38) |
| 11:61083997 | D>V | A:423 | (56.38, -2.30, 52.69) | |
| 11:61083989 | rs146943545 | V>M | A:426 | (51.76, 1.75, 43.23) |
| 11:61083973 | G>V | A:431 | (50.95, 8.09, 31.81) | |
| 11:61083850 | N>K | A:439 | (63.36, 2.83, 54.63) | |
| 11:61083826 | E>D | A:447 | (63.54, -0.14, 38.93) | |
| 11:61083812 | V>A | A:452 | (55.35, -1.07, 33.19) | |
| 11:61083813 | rs373150519 | V>M | A:452 | (55.35, -1.07, 33.19) |
| 11:61083782 | N>S | A:462 | (46.96, -7.23, 47.56) | |
| 11:61083780 | V>M | A:463 | (46.86, -10.71, 44.13) | |
| 11:61083770 | Q>R | A:466 | (53.62, -15.79, 46.71) | |
| 11:61081939 | R>K | A:477 | (53.80, -7.03, 33.45) | |
| 11:61081936 | L>S | A:478 | (51.85, -11.03, 36.99) | |
| 11:61081930 | S>F | A:480 | (55.78, -13.07, 42.27) | |
| 11:61081927 | Q>R | A:481 | (56.49, -12.34, 46.46) | |
| 11:61081887 | rs375517104 | Q>H | A:494 | (42.73, -7.67, 18.08) |
| 11:61081883 | K>Q | A:496 | (41.65, -3.93, 21.15) | |
| 11:61081848 | rs200688468 | Q>H | A:507 | (37.48, -12.06, 40.99) |
| 11:61081819 | rs56006697 | Y>C | A:517 | (37.55, -10.31, 28.20) |
| 11:61081804 | rs185730554 | H>R | A:522 | (45.40, -19.58, 40.09) |
| 11:61081798 | COSM1580766 | Q>R | A:524 | (53.87, -18.70, 39.14) |
| 11:61081794 | COSM929431 | E>D | A:525 | (48.94, -19.19, 36.54) |
| 11:61081793 | L>F | A:526 | (47.11, -14.86, 33.93) | |
| 11:61081782 | I>M | A:529 | (37.54, -17.48, 32.11) | |
| 11:61081667 | COSM1355212 | E>D | A:535 | (23.52, -2.69, 24.73) |
| 11:61081645 | I>V | A:543 | (34.88, -7.12, 41.41) | |
| 11:61081639 | P>S | A:545 | (34.89, -10.62, 47.91) | |
| 11:61081628 | D>E | A:548 | (28.88, -14.56, 50.91) | |
| 11:61081629 | D>G | A:548 | (28.88, -14.56, 50.91) | |
| 11:61081627 | S>G | A:549 | (32.66, -15.20, 50.20) | |
| 11:61081623 | N>S | A:550 | (36.12, -17.03, 51.54) | |
| 11:61081624 | N>D | A:550 | (36.12, -17.03, 51.54) | |
| 11:61081621 | G>R | A:551 | (37.82, -14.32, 47.64) | |
| 11:61081617 | L>P | A:552 | (35.30, -15.94, 44.92) | |
| 11:61081578 | COSM1704114 | S>L | A:565 | (23.03, 2.80, 33.04) |
| 11:61081572 | R>H | A:567 | (23.23, -2.95, 32.91) | |
| 11:61081547 | rs570804153 | E>D | A:575 | (23.05, -13.85, 33.35) |
| 11:61081411 | T>I | A:595 | (29.33, -5.04, 53.90) | |
| 11:61081403 | S>R | A:598 | (22.92, -5.68, 58.60) | |
| 11:61081399 | S>N | A:599 | (22.89, -4.70, 54.72) | |
| 11:61081394 | Y>D | A:601 | (24.53, -1.12, 51.54) | |
| 11:61081366 | A>V | A:610 | (25.73, 13.18, 41.73) | |
| 11:61081338 | E>D | A:619 | (21.04, -13.98, 47.55) | |
| 11:61081163 | R>H | A:626 | (15.82, 6.79, 42.37) | |
| 11:61081130 | V>A | A:637 | (36.19, 8.54, 43.35) | |
| 11:61081115 | rs376616995 | R>H | A:642 | (41.66, 0.08, 58.42) |
| 11:61081116 | R>C | A:642 | (41.66, 0.08, 58.42) | |
| 11:61081109 | L>P | A:644 | (35.60, 1.42, 63.69) | |
| 11:61081049 | H>R | A:664 | (20.74, -0.61, 60.08) | |
| 11:61080986 | D>G | A:685 | (56.94, 0.65, 59.35) | |
| 11:61079536 | rs376923688 COSM929430 |
S>N | A:697 | (49.43, 18.61, 44.17) |
| 11:61079533 | T>I | A:698 | (50.06, 17.15, 47.57) | |
| 11:61079534 | T>A | A:698 | (50.06, 17.15, 47.57) | |
| 11:61079492 | I>L | A:712 | (31.37, 16.68, 70.79) | |
| 11:61079473 | Y>C | A:718 | (34.36, 17.73, 87.25) | |
| 11:61079465 | P>A | A:721 | (29.92, 27.27, 83.69) | |
| 11:61079347 | rs147859470 | V>A | A:729 | (46.31, 38.40, 72.12) |
| 11:61079317 | rs190054116 | R>H | A:739 | (33.64, 26.78, 94.30) |
| 11:61079314 | I>T | A:740 | (28.19, 24.74, 95.94) | |
| 11:61079315 | I>V | A:740 | (28.19, 24.74, 95.94) | |
| 11:61079309 | V>L | A:742 | (29.53, 23.30, 103.05) | |
| 11:61079302 | D>V | A:744 | (32.77, 24.78, 108.47) | |
| 11:61079299 | COSM929428 | T>M | A:745 | (32.60, 23.19, 112.53) |
| 11:61079295 | S>R | A:746 | (34.91, 26.69, 112.29) | |
| 11:61079291 | G>S | A:748 | (33.48, 28.09, 107.24) | |
| 11:61079273 | P>T | A:754 | (37.57, 17.79, 93.16) | |
| 11:61077800 | N>H | A:790 | (36.03, 31.52, 90.16) | |
| 11:61077790 | I>T | A:793 | (42.73, 31.65, 82.69) | |
| 11:61077791 | rs373866581 | I>V | A:793 | (42.73, 31.65, 82.69) |
| 11:61077416 | Q>H | A:806 | (38.41, 33.00, 95.01) | |
| 11:61077405 | N>S | A:810 | (28.69, 36.38, 99.82) | |
| 11:61077370 | rs372773947 | G>S | A:822 | (41.23, 52.98, 74.38) |
| 11:61077345 | rs367819676 | I>T | A:830 | (36.31, 43.42, 82.24) |
| 11:61077346 | I>V | A:830 | (36.31, 43.42, 82.24) | |
| 11:61077331 | rs201599936 | M>V | A:835 | (27.73, 41.60, 96.96) |
| 11:61077295 | R>C | A:847 | (34.04, 44.20, 92.54) | |
| 11:61077291 | I>T | A:848 | (33.74, 46.94, 87.60) | |
| 11:61077288 | V>A | A:849 | (37.48, 43.83, 88.13) | |
| 11:61077289 | V>L | A:849 | (37.48, 43.83, 88.13) | |
| 11:61076538 | T>S | A:860 | (44.28, 43.16, 89.87) | |
| 11:61076508 | V>M | A:870 | (27.22, 44.20, 86.84) | |
| 11:61076484 | COSM386431 | G>R | A:878 | (36.84, 52.23, 74.21) |
| 11:61076462 | N>S | A:885 | (20.26, 47.19, 89.19) | |
| 11:61076456 | rs187902800 | T>M | A:887 | (21.67, 52.38, 85.78) |
| 11:61071486 | T>A | A:895 | (45.83, 57.78, 80.67) | |
| 11:61071445 | N>K | A:908 | (15.78, 50.78, 82.69) | |
| 11:61071428 | L>P | A:914 | (23.69, 45.07, 76.77) | |
| 11:61071360 | P>A | A:937 | (29.21, 62.29, 69.59) | |
| 11:61070222 | A>T | A:982 | (6.73, 56.89, 59.47) | |
| 11:61070156 | V>I | A:1004 | (16.95, 31.35, 74.26) | |
| 11:61070086 | rs535718507 | S>L | A:1027 | (24.73, 34.03, 60.94) |
| 11:61070071 | T>M | A:1032 | (19.18, 26.16, 74.31) | |
| 11:61070065 | rs144788672 | N>S | A:1034 | (16.82, 21.47, 76.24) |
| 11:61070058 | M>I | A:1036 | (18.82, 23.51, 70.41) | |
| 11:61069822 | T>S | A:1041 | (19.35, 33.51, 58.77) | |
| 11:61069798 | rs182128993 | N>S | A:1049 | (6.98, 35.22, 49.47) |
| 11:61069784 | M>L | A:1054 | (7.70, 25.45, 50.14) | |
| 11:61069772 | L>I | A:1058 | (5.33, 20.78, 53.23) | |
| 11:61069756 | K>R | A:1063 | (2.66, 12.51, 57.75) | |
| 11:61068385 | E>K | A:1079 | (-1.32, 32.89, 80.25) | |
| 11:61068330 | F>S | A:1097 | (10.94, 18.73, 49.74) | |
| 11:61068316 | R>C | A:1102 | (10.04, 12.32, 42.69) | |
| 11:61067641 | I>M | A:1130 | (15.40, 18.61, 45.17) | |
| 11:61067639 | K>R | A:1131 | (19.34, 21.75, 43.40) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 11:61097501 | COSM3376013 | A>T | A:86 | (-3.69, 15.11, 73.30) |
| 11:61094352 | COSM929436 | R>Q | A:188 | (2.30, 20.10, 102.29) |
| 11:61090509 | COSM1704115 | R>C | A:327 | (17.77, 19.04, 83.36) |
| 11:61083828 | COSM929433 | E>K | A:447 | (63.54, -0.14, 38.93) |
| 11:61081798 | COSM1580766 | Q>R | A:524 | (53.87, -18.70, 39.14) |
| 11:61081668 | COSM1355213 | E>G | A:535 | (23.52, -2.69, 24.73) |
| 11:61081077 | COSM3710366 | R>C | A:655 | (31.42, 19.40, 48.83) |
| 11:61079499 | COSM2152473 | K>N | A:709 | (27.90, 17.55, 60.35) |
| 11:61079464 | COSM1355211 | P>Q | A:721 | (29.92, 27.27, 83.69) |
| 11:61079340 | COSM3355832 | Q>H | A:731 | (46.42, 32.02, 72.31) |
| 11:61077397 | COSM1746373 | A>T | A:813 | (30.52, 36.72, 88.71) |
| 11:61070162 | COSM169713 | E>K | A:1002 | (13.71, 25.61, 72.91) |
| 11:61067618 | COSM689333 | R>Q | A:1138 | (25.01, 23.36, 51.26) |