General Structure Information
| PDB ID | 2wft |
| HGNC Gene Label(s) | HHIP |
| Structure Name | crystal structure of the human hip ectodomain |
| Resolution | 2.8Å |
| Reference | AUTH B.BISHOP,A.R.ARICESCU,K.HARLOS,C.A.OCALLAGHAN,AUTH 2 E.Y.JONES,C.SIEBOLDTITL STRUCTURAL INSIGHTS INTO HEDGEHOG LIGANDTITL 2 SEQUESTRATION BY THE HUMAN HEDGEHOG-INTERACTINGTITL 3 PROTEIN HIPREF NAT.STRUCT.MOL.BIOL. V. 16 698 2009REFN ISSN 1545-9993PMID 19561611DOI 10.1038/NSMB.1607 |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 438 |
| Number Of SNVs | 106 |
| Number Of Permutations | 45354 |
| Optimal Distance Threshold | 12.0 |
| K Statistic | 0.06 |
| p-value | 0.543 |
COSMIC
| Number Of Residues | 438 |
| Number Of SNVs | 16 |
| Number Of Permutations | 9011 |
| Optimal Distance Threshold | 18.0 |
| K Statistic | 0.317 |
| p-value | 0.06 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 106 |
| Number Of COSMIC SNVs | 16 |
| Optimal Distance Threshold | 30.0 |
| K Statistic | 0.325 |
| p-value | 0.006 |
Pathogenic Proximity Analysis
COSMIC PathProx Analysis
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:145580811 | C>R | A:218 | (78.60, 14.06, 119.52) | |
| 4:145580823 | rs201311123 | V>L | A:222 | (83.24, 25.88, 119.72) |
| 4:145580826 | V>M | A:223 | (81.82, 29.63, 119.09) | |
| 4:145580830 | rs151269514 | S>N | A:224 | (78.99, 31.97, 120.58) |
| 4:145580838 | COSM3783781 COSM3783782 |
R>W | A:227 | (77.77, 38.97, 112.72) |
| 4:145580860 | H>R | A:234 | (91.34, 25.24, 106.03) | |
| 4:145580862 | S>G | A:235 | (94.23, 28.47, 104.95) | |
| 4:145580866 | rs61730970 | G>E | A:236 | (96.52, 25.76, 104.42) |
| 4:145580872 | G>D | A:238 | (99.33, 25.57, 109.25) | |
| 4:145580875 | rs200798148 | S>L | A:239 | (97.57, 28.14, 111.18) |
| 4:145580878 | rs144053849 | Q>R | A:240 | (95.51, 24.74, 113.20) |
| 4:145580879 | Q>H | A:240 | (95.51, 24.74, 113.20) | |
| 4:145580881 | COSM1427336 COSM3126571 |
R>H | A:241 | (94.31, 30.84, 110.70) |
| 4:145580891 | rs536855031 | I>M | A:244 | (83.80, 31.96, 110.81) |
| 4:145580896 | E>A | A:246 | (79.51, 36.59, 109.65) | |
| 4:145580897 | E>D | A:246 | (79.51, 36.59, 109.65) | |
| 4:145580917 | COSM1618440 COSM1618441 |
I>T | A:253 | (90.04, 34.59, 112.75) |
| 4:145580926 | rs202074993 COSM4005684 COSM4005685 |
P>H | A:256 | (93.77, 27.07, 117.61) |
| 4:145580947 | E>A | A:263 | (89.52, 43.57, 113.89) | |
| 4:145580948 | E>D | A:263 | (89.52, 43.57, 113.89) | |
| 4:145580949 | P>A | A:264 | (87.45, 41.54, 111.08) | |
| 4:145580973 | V>F | A:272 | (77.34, 42.88, 100.95) | |
| 4:145580977 | Q>P | A:273 | (72.37, 43.65, 99.79) | |
| 4:145627698 | G>R | A:283 | (75.27, 37.61, 100.51) | |
| 4:145627713 | rs146905204 | A>T | A:288 | (88.42, 30.35, 98.71) |
| 4:145627717 | F>Y | A:289 | (91.65, 30.53, 101.51) | |
| 4:145627735 | rs138979585 | K>R | A:295 | (103.90, 31.93, 97.87) |
| 4:145627796 | H>Q | A:315 | (68.45, 43.11, 86.18) | |
| 4:145627827 | rs201873715 | V>I | A:326 | (96.56, 39.06, 102.65) |
| 4:145628256 | V>G | A:334 | (92.17, 41.29, 103.97) | |
| 4:145628259 | D>G | A:335 | (94.48, 44.85, 101.35) | |
| 4:145628282 | L>V | A:343 | (82.73, 36.31, 87.57) | |
| 4:145628330 | rs200430719 | F>L | A:359 | (90.67, 25.85, 94.53) |
| 4:145628331 | rs201690271 | F>S | A:359 | (90.67, 25.85, 94.53) |
| 4:145628334 | rs143895092 | G>D | A:360 | (90.97, 21.25, 93.12) |
| 4:145628342 | rs141216253 | G>S | A:363 | (93.93, 23.91, 90.75) |
| 4:145628346 | F>C | A:364 | (91.97, 24.04, 87.76) | |
| 4:145628379 | T>I | A:375 | (62.94, 31.23, 82.94) | |
| 4:145628400 | M>T | A:382 | (66.29, 39.79, 79.78) | |
| 4:145629325 | F>C | A:388 | (78.19, 31.93, 83.50) | |
| 4:145629336 | rs371342149 | V>M | A:392 | (79.86, 23.84, 87.29) |
| 4:145629342 | R>W | A:394 | (87.26, 23.88, 85.30) | |
| 4:145629343 | R>Q | A:394 | (87.26, 23.88, 85.30) | |
| 4:145629364 | rs146233465 | M>R | A:401 | (98.00, 36.71, 80.42) |
| 4:145629372 | rs34033277 | V>M | A:404 | (92.07, 38.18, 81.26) |
| 4:145629375 | rs139650153 | P>T | A:405 | (90.95, 37.99, 84.96) |
| 4:145629382 | rs202180617 COSM3783783 |
S>C | A:407 | (92.77, 31.20, 82.34) |
| 4:145629391 | R>K | A:410 | (95.13, 23.36, 78.02) | |
| 4:145629409 | N>S | A:416 | (88.50, 28.46, 71.52) | |
| 4:145629419 | N>K | A:419 | (77.96, 28.54, 70.98) | |
| 4:145629423 | P>A | A:421 | (79.96, 29.11, 77.70) | |
| 4:145629427 | P>L | A:422 | (84.24, 29.13, 77.99) | |
| 4:145629441 | H>Y | A:427 | (74.16, 22.39, 82.31) | |
| 4:145629453 | rs369873424 COSM1695044 |
D>N | A:431 | (68.51, 24.83, 94.85) |
| 4:145629456 | P>S | A:432 | (72.38, 24.07, 94.77) | |
| 4:145629460 | G>A | A:433 | (74.01, 23.01, 98.11) | |
| 4:145633113 | rs199613180 | D>A | A:438 | (86.26, 13.11, 97.25) |
| 4:145633124 | T>P | A:442 | (94.33, 7.10, 98.10) | |
| 4:145633131 | rs149765303 | I>T | A:444 | (95.55, 6.81, 91.36) |
| 4:145633146 | rs114688020 | T>M | A:449 | (83.77, 13.58, 93.39) |
| 4:145633167 | rs200048905 | N>S | A:456 | (62.74, 22.30, 91.95) |
| 4:145633194 | rs369241661 | I>T | A:465 | (77.74, 13.02, 90.47) |
| 4:145633206 | rs202162458 | I>T | A:469 | (89.41, 10.61, 84.99) |
| 4:145635412 | S>G | A:487 | (63.65, 9.30, 101.37) | |
| 4:145635419 | G>D | A:489 | (63.77, 16.10, 102.56) | |
| 4:145635445 | R>W | A:498 | (88.92, 12.43, 104.03) | |
| 4:145635446 | rs199560660 | R>Q | A:498 | (88.92, 12.43, 104.03) |
| 4:145635452 | rs200641725 | C>S | A:500 | (91.90, 11.90, 112.64) |
| 4:145635469 | Y>H | A:506 | (88.84, 8.69, 106.25) | |
| 4:145635472 | G>R | A:507 | (85.15, 8.84, 103.63) | |
| 4:145635481 | rs201301761 | V>M | A:510 | (77.87, 13.55, 105.68) |
| 4:145635493 | COSM1051691 | R>G | A:514 | (66.63, 24.28, 108.76) |
| 4:145635494 | R>H | A:514 | (66.63, 24.28, 108.76) | |
| 4:145635499 | rs555696124 | G>W | A:516 | (69.76, 17.35, 112.15) |
| 4:145636477 | P>S | A:525 | (82.03, -1.23, 95.25) | |
| 4:145636480 | V>L | A:526 | (79.94, -4.09, 93.18) | |
| 4:145636481 | rs200051968 | V>A | A:526 | (79.94, -4.09, 93.18) |
| 4:145636490 | Q>L | A:529 | (74.05, 2.04, 92.58) | |
| 4:145636499 | rs372297550 | E>G | A:532 | (69.81, 6.64, 102.60) |
| 4:145636514 | L>P | A:537 | (73.23, 12.70, 117.08) | |
| 4:145636516 | COSM1209646 | G>S | A:538 | (74.39, 11.50, 121.18) |
| 4:145636523 | S>N | A:540 | (78.30, 11.46, 125.41) | |
| 4:145636524 | rs201303626 | S>R | A:540 | (78.30, 11.46, 125.41) |
| 4:145636526 | rs199900341 COSM4122525 COSM3974750 |
G>E | A:541 | (78.31, 13.79, 128.38) |
| 4:145636531 | rs200411510 | C>R | A:543 | (78.88, 15.59, 124.02) |
| 4:145636532 | C>Y | A:543 | (78.88, 15.59, 124.02) | |
| 4:145636534 | rs201251893 | R>G | A:544 | (75.37, 17.32, 125.42) |
| 4:145636536 | R>S | A:544 | (75.37, 17.32, 125.42) | |
| 4:145636540 | rs199620075 | Y>H | A:546 | (71.16, 18.77, 122.47) |
| 4:145636549 | rs201603291 | G>S | A:549 | (68.52, 25.46, 115.83) |
| 4:145636570 | rs142534688 | E>K | A:556 | (87.04, 21.35, 106.68) |
| 4:145636573 | D>N | A:557 | (89.52, 21.78, 110.62) | |
| 4:145640033 | V>A | A:562 | (83.45, 18.51, 110.84) | |
| 4:145640050 | S>G | A:568 | (67.57, 31.10, 115.22) | |
| 4:145640089 | K>Q | A:581 | (83.71, 19.89, 116.83) | |
| 4:145640093 | COSM281695 | I>T | A:582 | (80.95, 16.59, 114.58) |
| 4:145655894 | rs201997512 | P>S | A:588 | (90.20, 9.57, 121.32) |
| 4:145655895 | P>L | A:588 | (90.20, 9.57, 121.32) | |
| 4:145655930 | rs201501756 COSM1730138 |
P>S | A:600 | (102.61, 30.34, 113.23) |
| 4:145655937 | rs375736858 | Q>R | A:602 | (104.29, 34.25, 108.98) |
| 4:145655943 | L>R | A:604 | (102.93, 37.86, 102.30) | |
| 4:145655962 | COSM732492 | R>S | A:610 | (109.57, 41.49, 98.49) |
| 4:145655964 | L>R | A:611 | (108.93, 44.34, 94.53) | |
| 4:145655969 | rs148372832 | R>G | A:613 | (103.47, 48.11, 95.30) |
| 4:145655975 | rs544633972 | G>S | A:615 | (99.71, 46.86, 90.51) |
| 4:145655987 | rs34017247 | P>S | A:619 | (98.46, 33.74, 91.47) |
| 4:145656011 | rs200625809 | P>T | A:627 | (98.01, 52.32, 83.77) |
| 4:145656014 | rs370099703 | G>S | A:628 | (102.21, 53.55, 82.76) |
| 4:145656021 | E>V | A:630 | (107.71, 49.65, 82.04) | |
| 4:145656024 | rs150080796 | G>A | A:631 | (108.70, 46.19, 84.27) |
| 4:145656027 | rs138391438 | D>V | A:632 | (110.19, 42.84, 85.74) |
| 4:145656037 | rs141923330 | R>S | A:635 | (110.39, 48.85, 90.33) |
| 4:145656038 | T>A | A:636 | (109.78, 51.78, 85.49) | |
| 4:145658936 | R>C | A:644 | (114.79, 65.54, 76.03) | |
| 4:145658937 | rs554131877 COSM379963 |
R>H | A:644 | (114.79, 65.54, 76.03) |
| 4:145658941 | H>Q | A:645 | (117.36, 68.96, 78.65) | |
| 4:145658943 | G>E | A:646 | (117.73, 65.40, 82.85) | |
| 4:145658960 | P>S | A:652 | (103.04, 58.28, 84.63) | |
| 4:145658961 | P>L | A:652 | (103.04, 58.28, 84.63) | |
| 4:145659012 | rs137971500 | V>G | A:669 | (115.55, 76.32, 77.43) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 4:145580801 | COSM1633476 | H>Q | A:214 | (75.96, 2.06, 122.30) |
| 4:145580839 | COSM1753558 | R>Q | A:227 | (77.77, 38.97, 112.72) |
| 4:145580881 | COSM3126571 | R>H | A:241 | (94.31, 30.84, 110.70) |
| 4:145580917 | COSM1618441 | I>R | A:253 | (90.04, 34.59, 112.75) |
| 4:145580925 | COSM1719057 | P>S | A:256 | (93.77, 27.07, 117.61) |
| 4:145580932 | COSM4558581 | G>E | A:258 | (89.51, 29.91, 120.87) |
| 4:145627713 | COSM1209647 | A>T | A:288 | (88.42, 30.35, 98.71) |
| 4:145628247 | COSM3600616 | P>L | A:331 | (98.65, 37.91, 108.83) |
| 4:145628327 | COSM4458120 | L>F | A:358 | (85.85, 24.38, 95.02) |
| 4:145629453 | COSM1695044 | D>N | A:431 | (68.51, 24.83, 94.85) |
| 4:145635443 | COSM1671346 | Y>S | A:497 | (85.56, 12.88, 108.37) |
| 4:145635490 | COSM145478 | D>N | A:513 | (68.28, 18.37, 107.87) |
| 4:145635493 | COSM1051691 | R>C | A:514 | (66.63, 24.28, 108.76) |
| 4:145636516 | COSM1209646 | G>S | A:538 | (74.39, 11.50, 121.18) |
| 4:145640032 | COSM1671347 | V>F | A:562 | (83.45, 18.51, 110.84) |
| 4:145640067 | COSM1618442 | Q>H | A:573 | (67.01, 39.12, 117.70) |
| 4:145640093 | COSM281695 | I>S | A:582 | (80.95, 16.59, 114.58) |