General Structure Information
| PDB ID | 4h6y |
| HGNC Gene Label(s) | FARP1 |
| Structure Name | crystal strucure of the dh-ph-ph domain of farp1 |
| Resolution | 4.09Å |
| Reference | AUTH X.HE,Y.C.KUO,T.J.ROSCHE,X.ZHANGTITL STRUCTURAL BASIS FOR AUTOINHIBITION OF THE GUANINETITL 2 NUCLEOTIDE EXCHANGE FACTOR FARP2.REF STRUCTURE V. 21 355 2013REFN ISSN 0969-2126PMID 23375260DOI 10.1016/J.STR.2013.01.001 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 400 |
| Number Of SNVs | 116 |
| Number Of Permutations | 51359 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.065 |
| p-value | 0.517 |
COSMIC
| Number Of Residues | 400 |
| Number Of SNVs | 5 |
| Number Of Permutations | 724 |
| Optimal Distance Threshold | 4.0 |
| K Statistic | 0.1 |
| p-value | 0.008 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 116 |
| Number Of COSMIC SNVs | 5 |
| Optimal Distance Threshold | 4.0 |
| K Statistic | 0.098 |
| p-value | 0.032 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 13:99063001 | D>A | A:539 | (-29.39, 40.33, 58.66) | |
| 13:99063003 | rs559534005 | K>E | A:540 | (-31.38, 39.99, 55.01) |
| 13:99063006 | A>T | A:541 | (-29.82, 36.79, 55.45) | |
| 13:99063016 | rs200956062 | I>T | A:544 | (-34.04, 34.28, 53.39) |
| 13:99063027 | V>L | A:548 | (-37.14, 28.60, 53.62) | |
| 13:99063036 | T>P | A:551 | (-42.36, 27.84, 52.64) | |
| 13:99063043 | rs377653936 COSM469634 COSM469635 |
R>Q | A:553 | (-44.16, 24.04, 56.61) |
| 13:99063049 | rs542050439 | Y>C | A:555 | (-43.40, 20.64, 50.36) |
| 13:99063070 | I>T | A:562 | (-50.98, 12.61, 49.46) | |
| 13:99063076 | rs149379616 | S>L | A:564 | (-51.47, 11.42, 55.46) |
| 13:99064168 | rs373690693 | T>R | A:569 | (-59.34, 8.23, 52.18) |
| 13:99064192 | COSM3376603 COSM3376604 |
P>L | A:577 | (-55.98, 0.03, 42.03) |
| 13:99064196 | E>D | A:578 | (-52.10, -2.59, 44.82) | |
| 13:99064203 | rs368153237 | K>E | A:581 | (-51.20, 2.43, 44.91) |
| 13:99064219 | rs547823910 | P>L | A:586 | (-44.38, 4.78, 46.24) |
| 13:99064222 | N>S | A:587 | (-43.07, 7.98, 43.96) | |
| 13:99064226 | F>L | A:588 | (-45.54, 11.53, 46.53) | |
| 13:99064237 | H>P | A:592 | (-43.00, 13.67, 54.95) | |
| 13:99064238 | H>Q | A:592 | (-43.00, 13.67, 54.95) | |
| 13:99064249 | T>S | A:596 | (-39.38, 16.29, 57.89) | |
| 13:99064267 | rs148145329 | I>T | A:602 | (-33.66, 24.73, 58.49) |
| 13:99064278 | rs561765791 | L>V | A:606 | (-32.97, 29.19, 62.47) |
| 13:99076869 | G>S | A:624 | (-26.03, 27.28, 53.53) | |
| 13:99083297 | H>Y | A:636 | (-31.79, 10.63, 45.46) | |
| 13:99083298 | H>R | A:636 | (-31.79, 10.63, 45.46) | |
| 13:99083304 | rs61730891 | A>V | A:638 | (-35.27, 12.33, 40.80) |
| 13:99083306 | rs531287304 | A>T | A:639 | (-36.72, 9.15, 40.24) |
| 13:99083315 | W>R | A:642 | (-38.14, 12.53, 35.58) | |
| 13:99083327 | E>K | A:646 | (-46.38, 7.43, 35.22) | |
| 13:99083329 | rs139439471 | E>D | A:646 | (-46.38, 7.43, 35.22) |
| 13:99083330 | A>S | A:647 | (-49.44, 9.69, 37.93) | |
| 13:99083336 | rs372874569 | E>K | A:649 | (-52.06, 10.32, 33.79) |
| 13:99083339 | A>T | A:650 | (-53.03, 7.61, 35.93) | |
| 13:99083348 | N>D | A:653 | (-56.58, 7.08, 32.80) | |
| 13:99083359 | K>N | A:656 | (-62.29, 7.62, 33.14) | |
| 13:99083364 | S>C | A:658 | (-63.62, 3.95, 38.27) | |
| 13:99083366 | rs149698535 | R>W | A:659 | (-67.11, 5.39, 38.95) |
| 13:99083367 | R>L | A:659 | (-67.11, 5.39, 38.95) | |
| 13:99083369 | rs145494993 | R>W | A:660 | (-65.41, 2.71, 43.93) |
| 13:99083370 | R>Q | A:660 | (-65.41, 2.71, 43.93) | |
| 13:99083381 | rs561179020 | F>L | A:664 | (-62.91, 8.65, 46.53) |
| 13:99083383 | F>L | A:664 | (-62.91, 8.65, 46.53) | |
| 13:99083387 | R>G | A:666 | (-66.98, 14.38, 43.43) | |
| 13:99083388 | R>K | A:666 | (-66.98, 14.38, 43.43) | |
| 13:99083399 | L>V | A:670 | (-65.66, 18.13, 48.55) | |
| 13:99083408 | COSM469636 COSM469637 |
V>L | A:673 | (-57.61, 19.11, 53.99) |
| 13:99083436 | rs376189432 | L>H | A:682 | (-49.68, 15.31, 42.22) |
| 13:99083442 | rs181363933 | R>Q | A:684 | (-47.27, 22.16, 45.59) |
| 13:99083450 | H>Y | A:687 | (-44.44, 23.60, 41.99) | |
| 13:99083453 | R>W | A:688 | (-40.29, 23.90, 47.77) | |
| 13:99083454 | rs147653421 | R>Q | A:688 | (-40.29, 23.90, 47.77) |
| 13:99083460 | M>T | A:690 | (-39.04, 26.61, 40.78) | |
| 13:99083466 | Y>C | A:692 | (-35.88, 24.78, 47.40) | |
| 13:99083470 | K>N | A:693 | (-34.21, 28.78, 43.05) | |
| 13:99083483 | R>W | A:698 | (-34.02, 36.14, 46.81) | |
| 13:99083494 | K>N | A:701 | (-27.52, 38.81, 45.41) | |
| 13:99083501 | P>A | A:704 | (-20.30, 38.77, 48.30) | |
| 13:99083502 | P>L | A:704 | (-20.30, 38.77, 48.30) | |
| 13:99083525 | D>Y | A:712 | (-21.87, 27.84, 49.01) | |
| 13:99087841 | rs372326477 | E>Q | A:719 | (-26.91, 21.39, 41.86) |
| 13:99087871 | rs369055657 | G>S | A:729 | (-40.34, 18.45, 31.32) |
| 13:99087872 | G>A | A:729 | (-40.34, 18.45, 31.32) | |
| 13:99087875 | T>M | A:730 | (-42.40, 16.73, 33.71) | |
| 13:99087886 | rs150432830 | M>V | A:734 | (-47.55, 17.68, 34.82) |
| 13:99087890 | E>G | A:735 | (-47.81, 23.26, 33.98) | |
| 13:99087891 | E>D | A:735 | (-47.81, 23.26, 33.98) | |
| 13:99087899 | Q>R | A:738 | (-54.09, 20.11, 34.92) | |
| 13:99087910 | E>K | A:742 | (-59.62, 20.69, 36.98) | |
| 13:99087913 | rs146045655 | L>F | A:743 | (-61.05, 23.65, 32.46) |
| 13:99087921 | K>N | A:745 | (-64.76, 19.92, 35.70) | |
| 13:99087929 | I>T | A:748 | (-71.13, 21.12, 30.83) | |
| 13:99087930 | rs140045465 | I>M | A:748 | (-71.13, 21.12, 30.83) |
| 13:99087935 | I>T | A:750 | (-67.83, 18.76, 25.57) | |
| 13:99087953 | rs369190259 | P>L | A:756 | (-53.10, 14.95, 22.41) |
| 13:99091067 | COSM949132 COSM949133 |
R>C | A:762 | (-56.16, 34.05, 28.33) |
| 13:99091068 | R>H | A:762 | (-56.16, 34.05, 28.33) | |
| 13:99091076 | S>G | A:765 | (-65.17, 37.63, 31.26) | |
| 13:99091086 | K>R | A:768 | (-71.65, 37.63, 23.31) | |
| 13:99091092 | S>L | A:770 | (-76.49, 40.38, 21.19) | |
| 13:99091113 | rs573784729 | R>H | A:777 | (-71.94, 34.39, 26.89) |
| 13:99091365 | rs368369581 | N>S | A:783 | (-54.74, 26.07, 20.77) |
| 13:99091367 | rs200140369 | D>N | A:784 | (-57.33, 25.34, 18.34) |
| 13:99091370 | rs145105522 | V>I | A:785 | (-60.77, 25.87, 19.90) |
| 13:99091388 | rs142251812 | R>W | A:791 | (-74.67, 31.37, 31.46) |
| 13:99091389 | COSM1952207 COSM1952208 |
R>Q | A:791 | (-74.67, 31.37, 31.46) |
| 13:99091406 | N>H | A:797 | (-73.66, 23.48, 38.06) | |
| 13:99091422 | rs113277361 | H>R | A:802 | (-73.55, 28.08, 22.80) |
| 13:99091424 | G>R | A:803 | (-69.62, 27.16, 21.04) | |
| 13:99091434 | rs368768744 | P>L | A:806 | (-62.23, 26.93, 14.96) |
| 13:99091440 | Y>C | A:808 | (-57.27, 28.28, 11.88) | |
| 13:99091442 | G>S | A:809 | (-58.72, 30.88, 10.03) | |
| 13:99091448 | T>A | A:811 | (-60.17, 37.68, 11.04) | |
| 13:99091449 | rs192616500 | T>M | A:811 | (-60.17, 37.68, 11.04) |
| 13:99092216 | I>T | A:812 | (-59.09, 39.86, 15.40) | |
| 13:99092225 | COSM4048924 COSM4048925 |
S>T | A:815 | (-65.11, 47.55, 16.89) |
| 13:99092227 | rs377118186 | E>K | A:816 | (-66.45, 51.56, 16.23) |
| 13:99092250 | H>Q | A:823 | (-64.48, 48.88, 23.93) | |
| 13:99092263 | R>W | A:828 | (-63.96, 36.56, 11.84) | |
| 13:99092264 | rs577035758 | R>Q | A:828 | (-63.96, 36.56, 11.84) |
| 13:99092267 | rs541195426 | G>D | A:829 | (-64.53, 33.26, 10.92) |
| 13:99092272 | rs141142662 | R>W | A:831 | (-67.32, 29.81, 10.04) |
| 13:99092273 | rs150753036 | R>Q | A:831 | (-67.32, 29.81, 10.04) |
| 13:99092293 | A>T | A:838 | (-64.62, 44.29, 26.79) | |
| 13:99092381 | rs369687276 | R>W | A:841 | (-58.71, 48.47, 27.48) |
| 13:99092424 | rs200890628 | I>T | A:855 | (-54.29, 32.59, 15.02) |
| 13:99092432 | A>T | A:858 | (-51.88, 27.89, 14.04) | |
| 13:99093022 | T>P | A:910 | (-62.50, 28.13, 40.64) | |
| 13:99093023 | T>I | A:910 | (-62.50, 28.13, 40.64) | |
| 13:99093025 | M>V | A:911 | (-59.67, 31.26, 39.16) | |
| 13:99093028 | V>L | A:912 | (-63.77, 29.77, 36.31) | |
| 13:99093058 | COSM1368153 COSM1368154 |
V>I | A:922 | (-56.53, 33.68, 33.76) |
| 13:99093062 | S>C | A:923 | (-53.20, 33.16, 31.69) | |
| 13:99093067 | V>M | A:925 | (-48.85, 33.68, 31.16) | |
| 13:99093082 | A>T | A:930 | (-48.69, 32.55, 41.01) | |
| 13:99098418 | rs371819014 | V>M | A:955 | (-51.27, 30.30, 52.73) |
| 13:99098441 | F>L | A:962 | (-55.58, 29.84, 51.41) | |
| 13:99098445 | Y>H | A:964 | (-54.32, 27.78, 57.80) | |
| 13:99098452 | S>L | A:966 | (-52.01, 27.89, 63.43) | |
| 13:99098457 | Q>K | A:968 | (-49.97, 23.12, 63.15) | |
| 13:99098924 | N>S | A:970 | (-55.04, 20.29, 59.37) | |
| 13:99098926 | H>Y | A:971 | (-59.43, 23.36, 58.59) | |
| 13:99098935 | A>T | A:974 | (-60.37, 31.25, 55.41) | |
| 13:99098950 | L>F | A:979 | (-58.79, 38.33, 41.01) | |
| 13:99098953 | rs200545303 | G>S | A:980 | (-58.97, 42.81, 41.78) |
| 13:99098962 | rs202086143 | L>F | A:983 | (-51.54, 46.39, 47.10) |
| 13:99099021 | rs144436647 | F>L | A:1002 | (-62.70, 44.46, 45.67) |
| 13:99099031 | rs199887537 | V>I | A:1006 | (-61.10, 46.61, 53.10) |
| 13:99099047 | rs371359681 COSM949146 COSM949147 |
A>V | A:1011 | (-45.75, 42.33, 58.69) |
| 13:99099055 | E>K | A:1014 | (-38.70, 44.44, 56.65) | |
| 13:99099062 | T>M | A:1016 | (-41.65, 39.83, 55.42) | |
| 13:99099067 | rs369179780 | E>K | A:1018 | (-39.69, 43.21, 50.38) |
| 13:99100495 | M>T | A:1021 | (-46.02, 43.90, 48.96) | |
| 13:99100496 | M>I | A:1021 | (-46.02, 43.90, 48.96) | |
| 13:99100506 | rs143527821 | R>C | A:1025 | (-48.55, 42.70, 43.42) |
| 13:99100507 | R>H | A:1025 | (-48.55, 42.70, 43.42) | |
| 13:99100509 | S>G | A:1026 | (-47.68, 39.97, 41.10) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 13:99063007 | COSM1206533 | A>V | A:541 | (-29.82, 36.79, 55.45) |
| 13:99064192 | COSM3376603 | P>L | A:577 | (-55.98, 0.03, 42.03) |
| 13:99083496 | COSM4590202 | H>P | A:702 | (-26.73, 39.34, 48.77) |
| 13:99083499 | COSM3793436 | H>P | A:703 | (-23.92, 37.55, 49.15) |
| 13:99083532 | COSM1368150 | R>Q | A:714 | (-23.00, 29.16, 44.30) |