General Structure Information
| PDB ID | 3smt |
| HGNC Gene Label(s) | SETD3 |
| Structure Name | crystal structure of human set domain-containing protein3 |
| Resolution | 2.04Å |
| Reference | AUTH H.ZENG,A.DONG,J.R.WALKER,P.LOPPNAU,C.BOUNTRA,J.WEIGELT,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,J.MIN,H.WUTITL CRYSTAL STRUCTURE OF HUMAN SET DOMAIN-CONTAINING PROTEIN3REF TO BE PUBLISHEDREFN |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 455 |
| Number Of SNVs | 104 |
| Number Of Permutations | 52471 |
| Optimal Distance Threshold | 24.0 |
| K Statistic | 0.262 |
| p-value | 0.147 |
COSMIC
| Number Of Residues | 455 |
| Number Of SNVs | 5 |
| Number Of Permutations | 1160 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.1 |
| p-value | 0.54 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 104 |
| Number Of COSMIC SNVs | 4 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | -0.086 |
| p-value | 0.863 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:99932076 | K>E | A:22 | (7.70, -18.72, -1.71) | |
| 14:99929913 | C>R | A:35 | (24.25, -19.38, 9.18) | |
| 14:99929903 | P>L | A:38 | (28.60, -23.83, 14.93) | |
| 14:99929885 | rs529858722 | K>R | A:44 | (36.58, -27.58, 8.00) |
| 14:99929868 | V>M | A:50 | (31.68, -23.37, -0.34) | |
| 14:99929864 | Q>R | A:51 | (28.20, -25.53, 2.37) | |
| 14:99929859 | R>W | A:53 | (30.14, -18.21, -2.24) | |
| 14:99929845 | COSM959479 | E>D | A:57 | (25.82, -16.91, -5.69) |
| 14:99929837 | R>Q | A:60 | (23.44, -13.10, -6.69) | |
| 14:99929838 | R>W | A:60 | (23.44, -13.10, -6.69) | |
| 14:99927669 | rs139334041 | V>I | A:68 | (17.34, 1.13, -6.51) |
| 14:99927665 | T>S | A:69 | (19.31, 1.58, -10.14) | |
| 14:99927666 | rs144606253 | T>S | A:69 | (19.31, 1.58, -10.14) |
| 14:99927618 | COSM2199999 COSM3499656 |
A>T | A:85 | (26.21, 20.61, 0.77) |
| 14:99927608 | N>S | A:88 | (22.61, 22.06, 3.87) | |
| 14:99927603 | A>P | A:90 | (29.11, 22.85, 3.51) | |
| 14:99927594 | E>K | A:93 | (36.54, 26.51, -1.89) | |
| 14:99927567 | COSM170119 | E>Q | A:102 | (45.67, 3.70, -6.82) |
| 14:99927533 | I>T | A:113 | (45.65, 23.92, 1.09) | |
| 14:99927530 | rs138646137 | K>R | A:114 | (48.33, 27.21, 3.19) |
| 14:99925509 | rs376749542 | F>C | A:119 | (39.71, 22.35, 3.06) |
| 14:99925510 | F>L | A:119 | (39.71, 22.35, 3.06) | |
| 14:99925494 | COSM215595 | R>Q | A:124 | (24.96, 16.27, 13.79) |
| 14:99924858 | rs190286423 | Q>E | A:144 | (10.77, -3.85, 17.56) |
| 14:99924853 | D>E | A:145 | (14.50, -5.48, 15.82) | |
| 14:99924855 | D>Y | A:145 | (14.50, -5.48, 15.82) | |
| 14:99924851 | R>Q | A:146 | (16.80, -6.35, 18.90) | |
| 14:99924849 | rs545572179 | I>V | A:147 | (19.34, -7.49, 15.96) |
| 14:99924828 | rs142426737 | I>L | A:154 | (22.99, -3.39, 10.93) |
| 14:99924825 | A>T | A:155 | (20.62, 0.42, 11.41) | |
| 14:99924819 | rs368539604 | A>T | A:157 | (22.23, -0.17, 6.55) |
| 14:99924813 | COSM1749060 COSM3932012 |
H>Y | A:159 | (18.70, 5.32, 7.30) |
| 14:99924791 | rs370065812 | S>I | A:166 | (13.15, 7.04, -0.93) |
| 14:99924779 | F>S | A:170 | (18.09, 15.61, 3.04) | |
| 14:99924738 | T>S | A:184 | (34.52, -6.08, 0.57) | |
| 14:99924707 | COSM470407 | R>Q | A:194 | (40.50, -21.44, -3.31) |
| 14:99924708 | rs372797302 COSM3749287 COSM3749288 |
R>W | A:194 | (40.50, -21.44, -3.31) |
| 14:99924704 | rs199911381 | Y>C | A:195 | (44.66, -16.69, -4.32) |
| 14:99924697 | Q>H | A:197 | (43.01, -21.69, 1.48) | |
| 14:99924696 | S>A | A:198 | (46.39, -21.38, 5.11) | |
| 14:99924684 | rs200956499 | I>V | A:202 | (40.49, -16.91, 6.12) |
| 14:99924672 | F>L | A:206 | (35.64, -18.14, 6.46) | |
| 14:99924647 | R>Q | A:214 | (23.59, -14.82, 10.78) | |
| 14:99924633 | F>L | A:219 | (16.68, -8.27, 9.15) | |
| 14:99924629 | Y>C | A:220 | (13.38, -11.69, 2.69) | |
| 14:99924620 | I>T | A:223 | (10.97, -7.15, 6.04) | |
| 14:99924621 | I>L | A:223 | (10.97, -7.15, 6.04) | |
| 14:99880258 | A>G | A:229 | (7.06, -2.83, 9.12) | |
| 14:99880255 | rs376178670 | N>S | A:230 | (5.13, -2.78, 5.57) |
| 14:99880256 | rs376909710 | N>D | A:230 | (5.13, -2.78, 5.57) |
| 14:99880247 | P>T | A:233 | (10.53, 0.60, 0.73) | |
| 14:99880238 | D>Y | A:236 | (8.76, -4.71, -2.50) | |
| 14:99880228 | T>S | A:239 | (17.99, -7.98, -2.70) | |
| 14:99879395 | V>L | A:247 | (26.78, -3.84, 5.09) | |
| 14:99879386 | V>L | A:250 | (28.40, 1.16, 6.67) | |
| 14:99879380 | T>S | A:252 | (33.75, 1.24, 3.65) | |
| 14:99879368 | Q>E | A:256 | (33.56, 7.51, 16.07) | |
| 14:99879362 | COSM3499652 COSM3499653 |
P>A | A:258 | (29.58, 13.02, 18.94) |
| 14:99879343 | COSM554392 | R>H | A:264 | (28.83, 9.35, 23.58) |
| 14:99879344 | R>C | A:264 | (28.83, 9.35, 23.58) | |
| 14:99879298 | rs200689165 | T>I | A:279 | (47.36, 8.84, 3.80) |
| 14:99872917 | G>A | A:286 | (36.80, 16.56, 14.17) | |
| 14:99872897 | rs143767093 | R>S | A:293 | (31.28, 22.45, 12.08) |
| 14:99872893 | C>Y | A:294 | (32.61, 17.34, 10.59) | |
| 14:99872878 | L>R | A:299 | (48.48, 19.71, 10.05) | |
| 14:99872866 | rs377382521 | R>Q | A:303 | (50.25, 21.90, -3.81) |
| 14:99872867 | R>W | A:303 | (50.25, 21.90, -3.81) | |
| 14:99872861 | G>R | A:305 | (46.32, 19.01, -7.63) | |
| 14:99871680 | rs202158741 | N>T | A:317 | (46.68, -4.18, 5.69) |
| 14:99871678 | rs145876062 | A>T | A:318 | (43.33, -7.04, 7.62) |
| 14:99871651 | F>L | A:327 | (47.21, -4.16, 1.05) | |
| 14:99871632 | H>R | A:333 | (50.30, 1.13, 11.73) | |
| 14:99871630 | rs143548749 | D>N | A:334 | (50.82, -4.57, 9.34) |
| 14:99871626 | COSM3794004 | R>K | A:335 | (48.33, -5.13, 13.32) |
| 14:99871582 | A>T | A:350 | (47.04, -20.35, 39.37) | |
| 14:99871557 | rs372227806 | R>H | A:358 | (47.21, -9.57, 41.36) |
| 14:99871558 | R>C | A:358 | (47.21, -9.57, 41.36) | |
| 14:99871552 | G>S | A:360 | (44.76, -6.99, 33.48) | |
| 14:99871542 | COSM1225368 | T>I | A:363 | (44.64, -16.48, 31.13) |
| 14:99870637 | F>L | A:367 | (47.83, -11.38, 22.35) | |
| 14:99870627 | H>P | A:370 | (53.00, -5.43, 15.74) | |
| 14:99870615 | rs200973957 | P>L | A:374 | (58.69, -3.77, 18.95) |
| 14:99870616 | P>S | A:374 | (58.69, -3.77, 18.95) | |
| 14:99870573 | rs371290639 | C>S | A:388 | (58.12, -18.01, 31.23) |
| 14:99870567 | T>I | A:390 | (59.88, -19.30, 38.05) | |
| 14:99870564 | E>G | A:391 | (57.06, -21.57, 42.14) | |
| 14:99866581 | H>R | A:397 | (55.79, -10.66, 40.65) | |
| 14:99866579 | L>M | A:398 | (51.70, -12.90, 44.09) | |
| 14:99866566 | S>N | A:402 | (59.97, -5.31, 45.25) | |
| 14:99866564 | COSM959477 | A>T | A:403 | (61.25, -1.79, 45.39) |
| 14:99866555 | R>G | A:406 | (58.81, -5.88, 39.46) | |
| 14:99866552 | I>L | A:407 | (52.24, -5.81, 38.70) | |
| 14:99866529 | E>D | A:414 | (63.63, -1.33, 31.29) | |
| 14:99866505 | E>D | A:422 | (63.59, -11.88, 28.87) | |
| 14:99866491 | COSM3401578 | T>I | A:427 | (62.94, -19.15, 23.03) |
| 14:99866443 | T>I | A:443 | (56.78, -19.41, -0.66) | |
| 14:99865453 | S>P | A:449 | (55.79, -14.86, -8.87) | |
| 14:99865450 | V>I | A:450 | (51.72, -14.82, -8.24) | |
| 14:99865439 | N>K | A:453 | (49.53, -11.95, -13.18) | |
| 14:99865435 | rs143398632 | D>N | A:455 | (45.91, -10.06, -16.04) |
| 14:99865426 | V>F | A:458 | (42.02, -5.70, -7.39) | |
| 14:99865422 | rs536592434 | R>H | A:459 | (38.02, -8.07, -5.71) |
| 14:99865423 | COSM1371930 | R>C | A:459 | (38.02, -8.07, -5.71) |
| 14:99865416 | K>T | A:461 | (46.72, -7.72, -6.57) | |
| 14:99865411 | A>S | A:463 | (44.75, -11.85, -0.95) | |
| 14:99865398 | rs377234619 | R>H | A:467 | (49.27, -15.58, 0.54) |
| 14:99865399 | rs113162506 | R>C | A:467 | (49.27, -15.58, 0.54) |
| 14:99865386 | K>R | A:471 | (54.47, -15.29, 5.09) | |
| 14:99865368 | A>V | A:477 | (59.55, -12.03, 14.63) | |
| 14:99865363 | K>E | A:479 | (65.02, -12.23, 11.99) | |
| 14:99865360 | S>G | A:480 | (63.33, -9.96, 16.58) | |
| 14:99865354 | A>P | A:482 | (66.90, -13.98, 18.08) | |
| 14:99865346 | rs548991448 | N>K | A:484 | (65.87, -10.07, 22.01) |
| 14:99865344 | COSM959474 | R>Q | A:485 | (67.94, -16.04, 21.62) |
| 14:99865341 | E>A | A:486 | (71.66, -13.72, 20.55) | |
| 14:99865335 | Y>C | A:488 | (68.09, -10.32, 27.35) | |
| 14:99865332 | COSM4053392 COSM1608123 |
R>H | A:489 | (72.50, -16.92, 26.11) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 14:99925494 | COSM215595 | R>Q | A:124 | (24.96, 16.27, 13.79) |
| 14:99924813 | COSM1749060 | H>Y | A:159 | (18.70, 5.32, 7.30) |
| 14:99879362 | COSM3499653 | P>S | A:258 | (29.58, 13.02, 18.94) |
| 14:99865423 | COSM1371930 | R>C | A:459 | (38.02, -8.07, -5.71) |
| 14:99865332 | COSM4053392 | R>H | A:489 | (72.50, -16.92, 26.11) |
| 14:99865333 | COSM1608124 | R>C | A:489 | (72.50, -16.92, 26.11) |