General Structure Information
| PDB ID | 4g1t |
| HGNC Gene Label(s) | IFIT2 |
| Structure Name | crystal structure of interferon-stimulated gene 54 |
| Resolution | 2.8Å |
| Reference | AUTH Z.YANG,H.LIANG,Q.ZHOU,Y.LI,H.CHEN,W.YE,D.CHEN,J.FLEMING,AUTH 2 H.SHU,Y.LIUTITL CRYSTAL STRUCTURE OF ISG54 REVEALS A NOVEL RNA BINDINGTITL 2 STRUCTURE AND POTENTIAL FUNCTIONAL MECHANISMS.REF CELL RES. 2012REFN ISSN 1001-0602PMID 22825553DOI 10.1038/CR.2012.111 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 429 |
| Number Of SNVs | 108 |
| Number Of Permutations | 32318 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.052 |
| p-value | 0.588 |
COSMIC
| Number Of Residues | 429 |
| Number Of SNVs | 6 |
| Number Of Permutations | 2236 |
| Optimal Distance Threshold | 19.0 |
| K Statistic | 0.067 |
| p-value | 0.632 |
Ripley’s K Analysis Plots
ExACCOSMIC


Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 108 |
| Number Of COSMIC SNVs | 6 |
| Optimal Distance Threshold | 37.0 |
| K Statistic | -0.201 |
| p-value | 0.592 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:91065743 | E>D | B:10 | (4.18, 18.13, -17.18) | |
| 10:91065746 | S>R | B:11 | (8.44, 16.14, -16.64) | |
| 10:91065747 | S>R | B:12 | (7.30, 13.60, -14.14) | |
| 10:91065750 | L>V | B:13 | (3.29, 13.67, -14.60) | |
| 10:91065754 | R>Q | B:14 | (4.28, 13.15, -20.31) | |
| 10:91065775 | rs369117025 | T>S | B:21 | (0.53, 9.36, -21.49) |
| 10:91065788 | M>I | B:25 | (-7.44, 13.25, -29.02) | |
| 10:91065805 | L>W | B:31 | (-14.10, 16.95, -27.77) | |
| 10:91065819 | D>N | B:36 | (-20.58, 11.56, -29.33) | |
| 10:91065829 | F>Y | B:39 | (-22.51, 8.51, -24.85) | |
| 10:91065834 | rs543713702 COSM3441380 |
R>W | B:41 | (-18.10, 3.00, -29.40) |
| 10:91065835 | rs376108562 | R>Q | B:41 | (-18.10, 3.00, -29.40) |
| 10:91065841 | E>G | B:43 | (-25.60, 3.33, -24.88) | |
| 10:91065843 | F>L | B:44 | (-22.77, -0.63, -26.86) | |
| 10:91065870 | M>V | B:53 | (-15.67, 2.70, -19.26) | |
| 10:91065885 | A>T | B:58 | (-12.38, 10.62, -16.60) | |
| 10:91065891 | L>V | B:60 | (-14.02, 12.70, -21.81) | |
| 10:91065915 | rs532385968 | E>K | B:68 | (-14.40, 17.99, -8.95) |
| 10:91065922 | A>G | B:70 | (-13.25, 13.22, -13.19) | |
| 10:91065936 | R>C | B:75 | (-15.13, 7.55, -5.91) | |
| 10:91065940 | K>I | B:76 | (-16.98, 5.65, -9.60) | |
| 10:91065945 | rs540819967 | E>K | B:78 | (-10.09, 3.09, -6.68) |
| 10:91065963 | E>K | B:84 | (-13.18, -6.50, -10.61) | |
| 10:91065965 | E>D | B:84 | (-13.18, -6.50, -10.61) | |
| 10:91065966 | H>Y | B:85 | (-8.87, -7.56, -9.83) | |
| 10:91065968 | H>Q | B:85 | (-8.87, -7.56, -9.83) | |
| 10:91065974 | D>E | B:87 | (-4.79, -9.88, -4.76) | |
| 10:91065990 | S>C | B:93 | (-4.58, 0.73, -9.39) | |
| 10:91065996 | rs375168880 | V>I | B:95 | (-3.94, 3.64, -14.88) |
| 10:91066006 | G>E | B:98 | (-2.33, 8.79, -12.99) | |
| 10:91066039 | R>Q | B:109 | (-6.05, 19.26, -5.99) | |
| 10:91066050 | COSM4016499 COSM1627664 |
V>I | B:113 | (-0.24, 15.30, -7.32) |
| 10:91066062 | V>I | B:117 | (3.32, 10.05, -7.41) | |
| 10:91066065 | rs370489231 | D>N | B:118 | (4.18, 9.15, -3.24) |
| 10:91066075 | rs2070845 | K>R | B:121 | (7.21, 6.71, -6.71) |
| 10:91066077 | H>N | B:122 | (5.63, 1.41, -2.66) | |
| 10:91066078 | H>R | B:122 | (5.63, 1.41, -2.66) | |
| 10:91066086 | rs536483989 | E>K | B:125 | (10.05, 0.90, -5.62) |
| 10:91066107 | COSM3441381 | R>G | B:132 | (12.04, -5.82, -19.11) |
| 10:91066110 | I>V | B:133 | (14.42, -0.69, -18.52) | |
| 10:91066113 | E>K | B:134 | (9.70, 0.72, -19.96) | |
| 10:91066114 | E>G | B:134 | (9.70, 0.72, -19.96) | |
| 10:91066126 | L>R | B:138 | (15.26, 0.52, -25.13) | |
| 10:91066140 | G>W | B:143 | (12.48, 0.14, -34.47) | |
| 10:91066146 | rs140575157 | T>S | B:145 | (15.56, -3.47, -35.81) |
| 10:91066149 | rs368254015 | R>W | B:146 | (10.65, -4.58, -35.01) |
| 10:91066181 | rs187537532 | R>S | B:156 | (5.63, -4.39, -33.14) |
| 10:91066183 | COSM921250 | A>V | B:157 | (7.96, 0.10, -35.89) |
| 10:91066198 | E>G | B:162 | (3.99, 5.96, -31.82) | |
| 10:91066243 | rs372337866 | G>A | B:177 | (11.04, 6.98, -37.63) |
| 10:91066248 | A>P | B:179 | (8.17, 8.99, -40.67) | |
| 10:91066252 | rs539260313 | I>T | B:180 | (10.44, 6.16, -42.34) |
| 10:91066285 | S>C | B:191 | (-1.13, -8.35, -43.73) | |
| 10:91066293 | rs144300435 | A>T | B:194 | (-8.56, -12.54, -38.11) |
| 10:91066297 | rs200869366 | I>S | B:195 | (-9.83, -16.25, -39.42) |
| 10:91066301 | D>E | B:196 | (-6.40, -17.72, -36.93) | |
| 10:91066321 | R>Q | B:203 | (-11.99, -23.30, -27.87) | |
| 10:91066324 | L>P | B:204 | (-9.57, -19.37, -24.97) | |
| 10:91066327 | N>S | B:205 | (-13.39, -16.74, -24.52) | |
| 10:91066329 | P>T | B:206 | (-16.71, -20.08, -23.98) | |
| 10:91066339 | Q>L | B:209 | (-21.56, -15.47, -27.39) | |
| 10:91066347 | K>Q | B:212 | (-19.39, -16.99, -31.44) | |
| 10:91066348 | rs375598427 | K>R | B:212 | (-19.39, -16.99, -31.44) |
| 10:91066378 | M>R | B:222 | (-13.84, -14.76, -47.07) | |
| 10:91066380 | rs370009481 | R>C | B:223 | (-19.60, -17.65, -47.89) |
| 10:91066381 | R>H | B:223 | (-19.60, -17.65, -47.89) | |
| 10:91066402 | G>D | B:230 | (-23.19, -22.51, -43.04) | |
| 10:91066407 | G>R | B:232 | (-22.31, -18.91, -39.97) | |
| 10:91066411 | E>G | B:233 | (-26.43, -19.53, -40.79) | |
| 10:91066412 | E>D | B:233 | (-26.43, -19.53, -40.79) | |
| 10:91066420 | V>A | B:236 | (-25.14, -16.10, -35.49) | |
| 10:91066446 | rs41284134 | G>R | B:245 | (-29.17, -8.78, -24.55) |
| 10:91066464 | rs537050168 COSM1349699 |
R>C | B:251 | (-23.95, -3.95, -33.29) |
| 10:91066474 | A>V | B:254 | (-27.79, -7.43, -38.06) | |
| 10:91066505 | D>E | B:264 | (-36.77, -8.29, -42.47) | |
| 10:91066506 | rs377588926 | K>E | B:265 | (-33.81, -11.89, -39.66) |
| 10:91066510 | rs370750247 COSM921252 |
A>V | B:266 | (-31.93, -7.11, -38.93) |
| 10:91066513 | rs140944939 | I>T | B:267 | (-35.10, -4.53, -38.83) |
| 10:91066515 | E>K | B:268 | (-37.00, -7.58, -35.61) | |
| 10:91066530 | A>T | B:273 | (-31.37, -3.07, -28.98) | |
| 10:91066531 | A>D | B:273 | (-31.37, -3.07, -28.98) | |
| 10:91066542 | I>L | B:277 | (-30.11, 1.53, -26.13) | |
| 10:91066546 | P>R | B:278 | (-33.50, 4.33, -26.26) | |
| 10:91066557 | Y>N | B:282 | (-23.21, 4.55, -33.84) | |
| 10:91066569 | Q>E | B:286 | (-27.36, -0.30, -38.46) | |
| 10:91066588 | R>K | B:292 | (-31.56, 2.78, -48.45) | |
| 10:91066606 | rs61729485 | V>A | B:298 | (-39.73, -3.75, -52.69) |
| 10:91066614 | L>I | B:301 | (-39.88, -7.50, -57.01) | |
| 10:91066621 | E>G | B:303 | (-44.28, -8.71, -59.82) | |
| 10:91066633 | rs3898075 | Y>C | B:307 | (-45.48, -4.25, -53.57) |
| 10:91066650 | L>M | B:313 | (-44.66, 5.36, -48.68) | |
| 10:91066660 | I>T | B:316 | (-39.66, 5.58, -47.30) | |
| 10:91066668 | COSM466059 | A>T | B:319 | (-35.91, 5.20, -42.66) |
| 10:91066684 | K>R | B:324 | (-34.57, 12.95, -38.65) | |
| 10:91066692 | COSM3791017 | D>N | B:327 | (-28.86, 14.38, -38.89) |
| 10:91066702 | rs182750115 | N>S | B:330 | (-24.14, 13.48, -34.88) |
| 10:91066716 | rs368019671 | R>C | B:335 | (-20.76, 12.39, -43.09) |
| 10:91066717 | R>H | B:335 | (-20.76, 12.39, -43.09) | |
| 10:91066764 | E>K | B:351 | (-40.60, 20.72, -49.04) | |
| 10:91066771 | A>G | B:353 | (-35.54, 16.71, -50.83) | |
| 10:91066775 | rs371414597 | E>D | B:354 | (-34.96, 20.68, -52.15) |
| 10:91066819 | A>V | B:369 | (-19.27, 12.91, -54.01) | |
| 10:91066830 | L>F | B:373 | (-24.71, 15.43, -55.18) | |
| 10:91066839 | rs367905315 | R>W | B:376 | (-28.35, 10.45, -57.50) |
| 10:91066840 | rs199839737 | R>P | B:376 | (-28.35, 10.45, -57.50) |
| 10:91066843 | rs371767716 | Y>C | B:377 | (-30.20, 18.33, -57.16) |
| 10:91066856 | Q>H | B:381 | (-34.07, 19.20, -60.71) | |
| 10:91066861 | Y>F | B:383 | (-36.03, 12.62, -64.60) | |
| 10:91066872 | C>G | B:387 | (-36.19, 21.93, -63.91) | |
| 10:91066885 | A>V | B:391 | (-29.72, 19.75, -64.52) | |
| 10:91066922 | Q>H | B:403 | (-12.71, 12.59, -60.80) | |
| 10:91066931 | R>S | B:406 | (-19.33, 6.32, -63.96) | |
| 10:91066978 | R>Q | B:422 | (-31.26, 22.58, -76.31) | |
| 10:91066986 | K>E | B:425 | (-36.26, 22.52, -81.17) | |
| 10:91067014 | H>P | B:434 | (-20.81, 23.81, -77.04) | |
| 10:91067047 | rs138979563 | K>R | B:445 | (-8.16, 12.69, -74.70) |
| 10:91067049 | rs148978582 | M>V | B:446 | (-9.80, 9.63, -73.62) |
| 10:91067050 | M>K | B:446 | (-9.80, 9.63, -73.62) | |
| 10:91067059 | rs186703110 | A>E | B:449 | (-5.82, 6.14, -72.80) |
| 10:91067062 | rs368741645 | D>G | B:450 | (-7.40, 3.18, -73.97) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 10:91066183 | COSM921250 | A>V | B:157 | (7.96, 0.10, -35.89) |
| 10:91066223 | COSM261386 | K>N | B:170 | (9.86, 18.14, -29.26) |
| 10:91066429 | COSM1719117 | A>V | B:239 | (-25.07, -16.16, -29.95) |
| 10:91066464 | COSM1349699 | R>C | B:251 | (-23.95, -3.95, -33.29) |
| 10:91066465 | COSM1210267 | R>H | B:251 | (-23.95, -3.95, -33.29) |
| 10:91066788 | COSM1603830 | K>E | B:359 | (-27.30, 19.65, -44.87) |
| 10:91066899 | COSM1603831 | I>V | B:396 | (-22.09, 21.47, -66.68) |