General Structure Information
| PDB ID | 3nvq |
| HGNC Gene Label(s) | SEMA7A |
| Structure Name | molecular mechanism of guidance cue recognition |
| Resolution | 2.4Å |
| Reference | AUTH H.LIU,Z.S.JUO,A.H.SHIM,P.J.FOCIA,X.CHEN,K.C.GARCIA,X.HETITL STRUCTURAL BASIS OF SEMAPHORIN-PLEXIN RECOGNITION AND VIRALTITL 2 MIMICRY FROM SEMA7A AND A39R COMPLEXES WITH PLEXINC1.REF CELL(CAMBRIDGE,MASS.) V. 142 749 2010REFN ISSN 0092-8674PMID 20727575DOI 10.1016/J.CELL.2010.07.040 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 588 |
| Number Of SNVs | 137 |
| Number Of Permutations | 78654 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.043 |
| p-value | 0.289 |
ClinVar
| Number Of Residues | 588 |
| Number Of SNVs | 4 |
| Number Of Permutations | 1586 |
| Optimal Distance Threshold | 6.0 |
| K Statistic | 0.167 |
| p-value | 0.83 |
COSMIC
| Number Of Residues | 588 |
| Number Of SNVs | 8 |
| Number Of Permutations | 2635 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.071 |
| p-value | 0.929 |
Ripley’s K Analysis Plots
ExACClinVarCOSMIC



Variant Set Comparisons
ClinVar vs. ExAC
| Number Of ExAC SNVs | 137 |
| Number Of ClinVar SNVs | 4 |
| Optimal Distance Threshold | 5.0 |
| K Statistic | 0.165 |
| p-value | 0.648 |
Cosmic vs. ExAC
| Number Of ExAC SNVs | 137 |
| Number Of COSMIC SNVs | 10 |
| Optimal Distance Threshold | 49.0 |
| K Statistic | -0.154 |
| p-value | 0.597 |
Pathogenic Proximity Analysis
ClinVar PathProx Analysis


COSMIC PathProx Analysis


Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 15:74726120 | H>P | E:47 | (3.70, -23.37, -107.48) | |
| 15:74726091 | V>I | E:57 | (-4.64, -16.85, -131.41) | |
| 15:74711275 | R>Q | E:66 | (-15.56, -10.28, -133.58) | |
| 15:74711276 | rs144593673 | R>W | E:66 | (-15.56, -10.28, -133.58) |
| 15:74711251 | COSM964838 | P>L | E:74 | (-19.36, 5.85, -124.74) |
| 15:74711245 | rs150967406 | T>M | E:76 | (-22.97, 0.75, -122.57) |
| 15:74711239 | rs150689794 | L>P | E:78 | (-25.32, -6.25, -122.10) |
| 15:74711218 | S>F | E:85 | (-29.93, -15.26, -130.04) | |
| 15:74711213 | V>L | E:87 | (-27.62, -9.22, -127.47) | |
| 15:74711197 | R>H | E:92 | (-25.23, 8.43, -128.88) | |
| 15:74711198 | rs374250059 | R>C | E:92 | (-25.23, 8.43, -128.88) |
| 15:74711189 | V>F | E:95 | (-31.63, -0.30, -128.58) | |
| 15:74711182 | rs148553967 | L>H | E:97 | (-31.15, -6.40, -131.67) |
| 15:74711168 | rs144512279 | E>K | E:102 | (-25.03, -21.66, -132.59) |
| 15:74711161 | K>R | E:104 | (-25.78, -18.84, -139.37) | |
| 15:74711162 | K>E | E:104 | (-25.78, -18.84, -139.37) | |
| 15:74711156 | rs371341054 | A>T | E:106 | (-24.09, -12.36, -136.92) |
| 15:74711147 | rs141653612 | R>C | E:109 | (-32.53, -3.76, -135.70) |
| 15:74711143 | rs200106474 | T>M | E:110 | (-30.77, 0.01, -134.93) |
| 15:74710638 | rs16968733 | S>T | E:115 | (-34.07, 12.90, -127.35) |
| 15:74710635 | rs578217064 | T>A | E:116 | (-37.80, 12.78, -129.33) |
| 15:74710625 | S>F | E:119 | (-34.78, 19.30, -128.04) | |
| 15:74710614 | rs200795887 | K>E | E:123 | (-26.80, 20.51, -129.55) |
| 15:74710610 | COSM3370255 | R>Q | E:124 | (-24.32, 22.34, -124.08) |
| 15:74710611 | rs372161007 | R>W | E:124 | (-24.32, 22.34, -124.08) |
| 15:74710304 | rs371343346 | E>K | E:127 | (-27.67, 12.70, -126.27) |
| 15:74710300 | N>S | E:128 | (-31.80, 8.89, -124.58) | |
| 15:74710276 | R>Q | E:136 | (-40.83, -6.75, -116.24) | |
| 15:74710277 | R>W | E:136 | (-40.83, -6.75, -116.24) | |
| 15:74710250 | T>A | E:145 | (-31.06, 10.17, -119.70) | |
| 15:74710240 | R>Q | E:148 | (-30.14, 16.25, -117.01) | |
| 15:74710241 | rs200895370 | R>W | E:148 | (-30.14, 16.25, -117.01) |
| 15:74710001 | rs373950889 | V>L | E:161 | (-44.58, 2.27, -125.63) |
| 15:74709989 | rs138109375 | E>K | E:165 | (-40.68, 11.92, -116.50) |
| 15:74709981 | R>S | E:167 | (-39.17, 10.63, -109.84) | |
| 15:74709961 | rs140327601 | P>L | E:174 | (-24.30, 8.64, -118.23) |
| 15:74709956 | E>K | E:176 | (-24.28, 9.12, -112.54) | |
| 15:74709952 | N>S | E:177 | (-22.77, 4.90, -109.00) | |
| 15:74709783 | D>G | E:185 | (-44.51, -5.76, -108.25) | |
| 15:74709781 | rs572867366 | E>K | E:186 | (-40.55, -5.26, -105.21) |
| 15:74709765 | I>N | E:191 | (-30.82, 6.55, -109.27) | |
| 15:74709762 | R>Q | E:192 | (-30.00, 11.77, -108.19) | |
| 15:74709756 | Q>L | E:194 | (-34.24, 15.54, -107.04) | |
| 15:74709733 | R>W | E:202 | (-29.92, 8.32, -99.56) | |
| 15:74709723 | R>H | E:205 | (-38.88, -0.01, -100.90) | |
| 15:74709724 | rs143114662 | R>C | E:205 | (-38.88, -0.01, -100.90) |
| 15:74709718 | rs56367230 | R>W | E:207 | (-43.16, -0.50, -107.80) |
| 15:74709714 | G>V | E:208 | (-44.04, -0.39, -103.20) | |
| 15:74709712 | COSM1938527 | E>K | E:209 | (-45.71, -2.06, -99.13) |
| 15:74709687 | T>S | E:217 | (-25.70, 7.48, -90.28) | |
| 15:74709050 | Q>E | E:223 | (-18.43, 3.87, -104.76) | |
| 15:74709034 | T>I | E:228 | (-28.99, -9.57, -104.29) | |
| 15:74709028 | V>E | E:230 | (-31.57, -13.32, -99.73) | |
| 15:74709029 | V>M | E:230 | (-31.57, -13.32, -99.73) | |
| 15:74709015 | Q>H | E:234 | (-39.23, -17.96, -92.17) | |
| 15:74709008 | rs140707085 | D>N | E:237 | (-36.29, -13.70, -92.42) |
| 15:74708989 | F>Y | E:243 | (-22.19, -6.44, -102.21) | |
| 15:74708978 | rs150057109 | D>N | E:247 | (-15.18, 6.74, -96.99) |
| 15:74708969 | D>N | E:250 | (-9.49, 4.53, -89.61) | |
| 15:74708966 | K>E | E:251 | (-10.15, 8.96, -90.66) | |
| 15:74708953 | A>V | E:255 | (-5.39, 3.97, -93.24) | |
| 15:74708942 | V>M | E:259 | (-13.77, -0.04, -97.07) | |
| 15:74708935 | COSM1225196 | R>H | E:261 | (-18.47, -2.16, -95.79) |
| 15:74708936 | rs368853845 COSM3370254 |
R>C | E:261 | (-18.47, -2.16, -95.79) |
| 15:74708326 | G>R | E:268 | (-40.26, -6.27, -95.07) | |
| 15:74708284 | N>Y | E:282 | (-35.75, 0.69, -89.47) | |
| 15:74708268 | A>V | E:287 | (-19.94, -5.50, -93.18) | |
| 15:74708222 | R>S | E:302 | (-9.68, -1.32, -105.27) | |
| 15:74708212 | rs563651407 | V>I | E:306 | (-19.78, -9.28, -107.27) |
| 15:74708191 | S>G | E:313 | (-28.14, -27.54, -102.94) | |
| 15:74708146 | P>S | E:328 | (-2.89, 0.51, -103.88) | |
| 15:74707284 | N>K | E:330 | (-3.87, -1.79, -109.73) | |
| 15:74707274 | rs200229481 | V>I | E:334 | (-10.45, -13.83, -106.09) |
| 15:74707268 | V>M | E:336 | (-15.20, -17.06, -102.06) | |
| 15:74707256 | rs200278425 | G>S | E:340 | (-24.18, -17.85, -94.48) |
| 15:74707246 | D>G | E:343 | (-26.79, -14.43, -92.03) | |
| 15:74707241 | V>I | E:345 | (-21.95, -11.93, -89.21) | |
| 15:74707235 | rs190892291 | R>C | E:347 | (-27.47, -14.70, -87.08) |
| 15:74707220 | K>Q | E:352 | (-17.70, -0.74, -84.32) | |
| 15:74707205 | rs200924335 | S>G | E:357 | (-27.20, -5.29, -74.00) |
| 15:74707195 | N>S | E:360 | (-35.48, -8.31, -77.76) | |
| 15:74707192 | P>L | E:361 | (-35.83, -6.46, -80.98) | |
| 15:74707189 | rs143621767 | R>Q | E:362 | (-29.71, -8.74, -82.74) |
| 15:74707077 | D>H | E:369 | (-47.07, -10.55, -88.30) | |
| 15:74707073 | Q>R | E:370 | (-46.99, -6.39, -91.76) | |
| 15:74707067 | P>R | E:372 | (-43.15, -1.95, -86.79) | |
| 15:74707041 | A>S | E:381 | (-28.91, 0.80, -85.63) | |
| 15:74707019 | COSM964830 | A>V | E:388 | (-17.50, -5.94, -85.55) |
| 15:74707011 | V>M | E:391 | (-16.86, -11.01, -93.82) | |
| 15:74707004 | P>L | E:393 | (-12.90, -15.82, -96.68) | |
| 15:74707001 | M>T | E:394 | (-15.60, -20.02, -98.04) | |
| 15:74706995 | P>L | E:396 | (-10.49, -23.53, -93.90) | |
| 15:74706986 | T>M | E:399 | (-7.23, -17.34, -98.28) | |
| 15:74706979 | L>F | E:401 | (-9.25, -18.51, -104.76) | |
| 15:74706945 | rs373206524 | V>I | E:413 | (-18.17, -18.23, -112.23) |
| 15:74706939 | rs376610413 | R>C | E:415 | (-21.01, -24.99, -111.01) |
| 15:74706936 | M>L | E:416 | (-17.47, -27.49, -115.36) | |
| 15:74706930 | A>S | E:418 | (-15.57, -33.07, -116.99) | |
| 15:74706921 | rs373060262 | G>R | E:421 | (-17.41, -35.66, -114.01) |
| 15:74706907 | H>Q | E:425 | (-15.81, -24.04, -109.75) | |
| 15:74706908 | H>L | E:425 | (-15.81, -24.04, -109.75) | |
| 15:74706897 | L>V | E:429 | (-11.04, -12.55, -114.74) | |
| 15:74706891 | T>S | E:431 | (-7.77, -6.99, -117.78) | |
| 15:74704347 | G>D | E:434 | (-8.93, -5.93, -122.60) | |
| 15:74704344 | rs201219342 | T>S | E:435 | (-7.80, -8.95, -121.66) |
| 15:74704323 | rs145966521 | P>L | E:442 | (-8.63, -23.99, -106.30) |
| 15:74704324 | P>S | E:442 | (-8.63, -23.99, -106.30) | |
| 15:74704311 | E>G | E:446 | (-0.70, -28.50, -100.04) | |
| 15:74704306 | rs370212850 | S>G | E:448 | (-4.33, -27.18, -105.10) |
| 15:74704300 | A>T | E:450 | (-4.74, -21.54, -109.42) | |
| 15:74704284 | E>A | E:455 | (-4.58, -13.56, -122.28) | |
| 15:74704269 | rs56204206 | R>H | E:460 | (-12.09, -5.40, -135.60) |
| 15:74704267 | rs56001514 | R>C | E:461 | (-11.86, -1.99, -133.34) |
| 15:74704263 | A>V | E:462 | (-8.32, -3.41, -129.12) | |
| 15:74704264 | rs372805316 | A>T | E:462 | (-8.32, -3.41, -129.12) |
| 15:74704242 | S>L | E:469 | (-22.09, -11.65, -119.84) | |
| 15:74704236 | D>A | E:471 | (-24.80, -18.20, -121.42) | |
| 15:74704237 | rs139187648 | D>N | E:471 | (-24.80, -18.20, -121.42) |
| 15:74704230 | E>G | E:473 | (-28.18, -22.53, -121.38) | |
| 15:74704227 | rs56100085 | R>Q | E:474 | (-25.47, -20.08, -126.32) |
| 15:74704006 | L>V | E:490 | (-16.77, -21.07, -122.39) | |
| 15:74703991 | V>F | E:495 | (-5.94, -22.05, -128.94) | |
| 15:74703982 | rs200100538 | G>R | E:498 | (0.63, -29.66, -129.78) |
| 15:74703970 | rs151040149 | G>S | E:502 | (-1.08, -29.84, -125.68) |
| 15:74703954 | rs368753457 | R>Q | E:507 | (-3.14, -28.28, -117.28) |
| 15:74703933 | D>G | E:514 | (-11.20, -37.00, -130.74) | |
| 15:74703930 | Q>R | E:515 | (-11.71, -37.24, -134.84) | |
| 15:74703927 | rs530718355 | G>V | E:516 | (-6.93, -35.38, -134.34) |
| 15:74703924 | rs200894892 | R>L | E:517 | (-9.29, -31.83, -134.45) |
| 15:74703925 | rs563160253 | R>C | E:517 | (-9.29, -31.83, -134.45) |
| 15:74703919 | I>L | E:519 | (-12.65, -30.57, -129.60) | |
| 15:74703901 | E>K | E:525 | (-17.82, -38.63, -129.95) | |
| 15:74703898 | R>W | E:526 | (-21.87, -38.06, -124.85) | |
| 15:74703657 | E>K | E:540 | (-4.59, -40.69, -120.90) | |
| 15:74703647 | N>S | E:543 | (2.34, -41.05, -128.81) | |
| 15:74703648 | rs369613060 | N>D | E:543 | (2.34, -41.05, -128.81) |
| 15:74703294 | P>A | E:558 | (32.64, -18.07, -142.02) | |
| 15:74703272 | S>N | E:565 | (13.70, -17.96, -132.93) | |
| 15:74703262 | M>I | E:568 | (8.19, -18.65, -125.69) | |
| 15:74703249 | rs371438755 COSM1562805 |
A>T | E:573 | (8.02, -22.82, -119.69) |
| 15:74703233 | R>L | E:578 | (20.80, -27.93, -124.97) | |
| 15:74703234 | R>C | E:578 | (20.80, -27.93, -124.97) | |
| 15:74703219 | rs183138976 | V>M | E:583 | (23.19, -24.25, -122.00) |
| 15:74703215 | E>A | E:584 | (24.72, -21.74, -125.49) | |
| 15:74703216 | E>Q | E:584 | (24.72, -21.74, -125.49) | |
| 15:74703204 | E>K | E:588 | (13.58, -17.95, -117.12) | |
| 15:74703191 | rs201279645 | Q>P | E:592 | (9.64, -8.94, -121.10) |
| 15:74703182 | N>S | E:595 | (10.55, -15.02, -129.01) | |
| 15:74703152 | A>V | E:605 | (33.84, -23.65, -136.28) | |
| 15:74703129 | C>R | E:613 | (14.70, -25.34, -128.27) | |
| 15:74703123 | A>T | E:615 | (10.71, -27.20, -123.21) | |
| 15:74703119 | Q>R | E:616 | (11.48, -27.98, -118.24) | |
| 15:74703101 | rs140128092 | R>H | E:622 | (8.19, -29.56, -126.71) |
| 15:74703102 | rs143841629 | R>C | E:622 | (8.19, -29.56, -126.71) |
| 15:74703093 | Q>E | E:625 | (12.97, -25.31, -132.71) |
[+] ClinVar Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 15:74709717 | rs55637216 | R>Q | E:207 | (-43.16, -0.50, -107.80) |
| 15:74709718 | rs56367230 | R>W | E:207 | (-43.16, -0.50, -107.80) |
| 15:74707234 | rs387907241 | R>L | E:347 | (-27.47, -14.70, -87.08) |
| 15:74704269 | rs56204206 | R>H | E:460 | (-12.09, -5.40, -135.60) |
| 15:74704267 | rs56001514 | R>C | E:461 | (-11.86, -1.99, -133.34) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 15:74711147 | COSM3711749 | R>S | E:109 | (-32.53, -3.76, -135.70) |
| 15:74710289 | COSM4400777 | L>F | E:132 | (-32.25, 0.04, -117.66) |
| 15:74709961 | COSM3969271 | P>L | E:174 | (-24.30, 8.64, -118.23) |
| 15:74709727 | COSM964836 | R>C | E:204 | (-33.58, 5.68, -102.63) |
| 15:74709712 | COSM1938527 | E>K | E:209 | (-45.71, -2.06, -99.13) |
| 15:74708935 | COSM1225196 | R>H | E:261 | (-18.47, -2.16, -95.79) |
| 15:74708247 | COSM1640342 | A>V | E:294 | (-2.00, -15.52, -94.79) |
| 15:74707019 | COSM964830 | A>V | E:388 | (-17.50, -5.94, -85.55) |
| 15:74703166 | COSM1678584 | I>M | E:600 | (25.36, -16.51, -133.90) |
| 15:74703101 | COSM964825 | R>H | E:622 | (8.19, -29.56, -126.71) |