Q9H8V3
PR
Gene name |
ECT2 |
Protein name |
Protein ECT2 |
Names |
Epithelial cell-transforming sequence 2 oncogene |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1894 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q9H8V3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3L46 | X-ray | 148 A | A/B | 268-361 | PDB |
| 4N40 | X-ray | 311 A | A | 45-356 | PDB |
| 6L30 | X-ray | 280 A | A | 173-865 | PDB |
| AF-Q9H8V3-F1 | Predicted | AlphaFoldDB |
615 variants for Q9H8V3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2707195 rs777006332 |
4 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs141804704 CA2707196 |
5 | S>R | No |
ClinGen ESP ExAC |
|
|
CA2707197 rs765434390 |
5 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA355517207 rs1278318087 |
7 | L>S | No |
ClinGen TOPMed |
|
|
rs1218529663 CA355517218 |
8 | T>A | No |
ClinGen gnomAD |
|
|
CA355517232 rs1279451952 |
9 | S>P | No |
ClinGen gnomAD |
|
|
rs527340134 CA87777313 |
10 | T>A | No |
ClinGen TOPMed |
|
|
CA355517260 rs1309573825 |
11 | T>A | No |
ClinGen gnomAD |
|
|
rs763115622 CA2707200 |
12 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707199 rs763115622 |
12 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34703432 VAR_047064 CA2707202 |
15 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355517351 rs1487063191 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs1192843050 CA355517369 |
18 | D>Y | No |
ClinGen gnomAD |
|
|
CA355517409 rs1403384657 |
20 | S>F | No |
ClinGen TOPMed |
|
|
rs753599055 CA2707204 |
21 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs538212173 CA2707206 |
23 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs964051209 CA87777359 |
23 | D>V | No |
ClinGen TOPMed |
|
|
CA355517469 rs1560237259 |
24 | S>P | No |
ClinGen Ensembl |
|
|
CA355517483 rs1468470650 |
25 | K>E | No |
ClinGen TOPMed |
|
|
CA355517500 rs1428830901 |
26 | V>L | No |
ClinGen TOPMed |
|
|
CA2707207 rs142626979 |
27 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355517576 rs1399492276 |
31 | K>R | No |
ClinGen gnomAD |
|
|
CA2707210 rs746543430 |
33 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2707211 rs373132353 |
35 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355517641 rs150569451 |
35 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150569451 CA2707212 |
35 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748486976 CA2707213 |
36 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355517656 rs1313190961 |
38 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA355517671 rs1453037116 |
40 | S>* | No |
ClinGen gnomAD |
|
|
rs770114928 CA2707214 |
41 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs773482993 CA2707215 |
43 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1178034493 CA355517707 |
44 | E>G | No |
ClinGen gnomAD |
|
|
rs776600254 CA2707240 |
46 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs972402958 CA355517721 |
46 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs972402958 CA87778119 |
46 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373780438 CA87778120 |
47 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2707242 rs144346343 |
49 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355517749 rs1376693561 |
50 | E>A | No |
ClinGen gnomAD |
|
|
rs1445543085 CA355517755 |
51 | T>A | No |
ClinGen gnomAD |
|
|
CA355517764 rs1290502985 |
52 | R>I | No |
ClinGen TOPMed |
|
| rs755040037 | 52 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946610078 CA87778154 |
56 | V>I | No |
ClinGen TOPMed |
|
|
CA355517794 rs1314050964 |
57 | Q>E | No |
ClinGen TOPMed |
|
|
rs376845669 CA87778161 |
57 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754507414 CA2707248 |
60 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1296003701 CA355517852 |
65 | L>F | No |
ClinGen TOPMed |
|
|
rs1234824119 CA355517855 |
65 | L>P | No |
ClinGen gnomAD |
|
|
rs753227921 CA2707251 |
66 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA355517860 rs1440831355 |
66 | I>T | No |
ClinGen TOPMed |
|
|
CA355517876 rs1181390796 |
68 | A>V | No |
ClinGen gnomAD |
|
|
rs764683194 CA2707278 |
71 | T>A | No |
ClinGen ExAC |
|
|
CA87778448 rs767234043 |
72 | I>V | No |
ClinGen gnomAD |
|
|
rs1003580386 CA87778450 |
74 | I>V | No |
ClinGen Ensembl |
|
|
CA355518013 rs1364225947 |
75 | M>T | No |
ClinGen TOPMed |
|
|
CA87778456 rs1033496276 |
75 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355518039 rs1311959990 |
77 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2707279 rs75095301 |
79 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA87778468 rs1005314142 |
80 | I>T | No |
ClinGen TOPMed |
|
|
rs1416100388 CA355518076 |
80 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355518151 rs1339799562 |
85 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355518159 rs1431138481 |
85 | S>R | No |
ClinGen gnomAD |
|
|
CA355518212 rs1418675090 |
89 | K>N | No |
ClinGen TOPMed |
|
|
CA2707280 rs575500060 |
90 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA87778481 rs575500060 |
90 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs972820083 CA87778503 |
95 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
rs961281819 CA87778497 |
95 | I>V | No |
ClinGen gnomAD |
|
|
CA87778508 rs922287075 |
97 | S>N | No |
ClinGen Ensembl |
|
|
CA355518331 rs1214549767 |
98 | V>F | No |
ClinGen gnomAD |
|
|
CA355518340 rs1263038491 |
99 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs543028322 CA87778518 |
101 | M>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1448059196 CA355518371 |
101 | M>V | No |
ClinGen gnomAD |
|
|
rs1484306711 CA355518434 |
103 | I>V | No |
ClinGen TOPMed |
|
|
CA87779637 rs912345208 |
105 | V>M | No |
ClinGen TOPMed |
|
|
rs201578056 CA2707286 |
106 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201578056 CA2707287 |
106 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749265031 CA2707288 |
108 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707289 rs770694791 |
110 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774087962 CA2707290 |
113 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA87779665 rs942621484 |
116 | F>I | No |
ClinGen TOPMed |
|
|
CA2707291 rs759410139 |
117 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs775267631 CA2707293 |
120 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1307754191 CA355518695 COSM359863 |
122 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2707294 rs760097132 |
122 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355518701 rs760097132 |
122 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355518722 rs1560242517 |
124 | F>L | No |
ClinGen Ensembl |
|
|
CA87779701 rs995844422 |
128 | F>L | No |
ClinGen TOPMed |
|
|
rs561466809 CA87779700 |
128 | F>V | No |
ClinGen Ensembl |
|
|
CA355518795 rs367564034 |
129 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2707296 rs367564034 |
129 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2707297 rs757788874 |
130 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2707298 rs765876174 |
130 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs572854836 CA2707300 |
131 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2707299 rs572854836 |
131 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2707302 rs747324409 |
134 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA355518869 rs1363921173 |
135 | D>N | No |
ClinGen TOPMed |
|
|
CA355518915 COSM3767302 rs1396966673 |
138 | F>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2707303 rs199606782 |
140 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336363129 CA355518962 |
141 | L>P | No |
ClinGen gnomAD |
|
|
CA2707305 rs748252196 |
142 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355518974 rs748252196 |
142 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355518971 rs748252196 |
142 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149840548 CA2707306 |
143 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368372326 CA87779752 |
143 | K>N | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 145 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355519048 rs1357253407 |
151 | P>S | No |
ClinGen gnomAD |
|
|
CA355519055 rs1214919137 |
152 | P>S | No |
ClinGen gnomAD |
|
|
rs1035516746 CA87779771 |
154 | V>L | No |
ClinGen TOPMed |
|
|
CA2707309 rs771965145 |
157 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774971622 CA2707310 |
158 | S>L | No |
ClinGen ExAC |
|
|
CA355519097 rs1183397855 |
159 | Q>K | No |
ClinGen gnomAD |
|
|
CA355519100 rs1366254832 |
159 | Q>P | No |
ClinGen gnomAD |
|
|
CA355519108 rs1355879105 |
160 | K>T | No |
ClinGen TOPMed |
|
|
CA355519152 rs1484793517 |
163 | P>H | No |
ClinGen TOPMed |
|
|
rs1259906749 CA355519163 |
164 | L>F | No |
ClinGen TOPMed |
|
|
CA87781559 rs779322985 |
164 | L>S | No |
ClinGen Ensembl |
|
|
CA2707331 rs200696233 |
166 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374915765 CA355519222 |
169 | R>C | No |
ClinGen gnomAD |
|
|
rs1374915765 CA355519224 |
169 | R>G | No |
ClinGen gnomAD |
|
|
CA355519226 rs1271413403 |
169 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2707334 rs755267624 |
170 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769496025 CA2707336 |
172 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1381962093 CA355519292 |
174 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA355519299 rs1296698017 |
174 | T>I | No |
ClinGen gnomAD |
|
|
rs1381962093 CA355519290 |
174 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1353128396 CA355519325 |
176 | M>T | No |
ClinGen TOPMed |
|
|
CA355519319 rs1229139200 |
176 | M>V | No |
ClinGen gnomAD |
|
|
CA355519344 rs1560247537 |
177 | M>I | No |
ClinGen Ensembl |
|
|
CA2707337 rs773563996 |
177 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA355519336 rs773563996 |
177 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA355519361 rs1314344897 |
178 | N>K | No |
ClinGen TOPMed |
|
|
rs763565919 CA2707338 |
178 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA355519366 rs1415097822 |
179 | L>V | No |
ClinGen TOPMed |
|
|
rs1260295158 CA355519400 |
182 | C>R | No |
ClinGen gnomAD |
|
|
rs1262166144 CA355519433 |
184 | T>A | No |
ClinGen gnomAD |
|
|
CA87781624 rs1028717071 |
185 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2707343 rs752980879 |
188 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA355519499 rs1560247791 |
189 | K>E | No |
ClinGen Ensembl |
|
|
CA2707345 rs756151763 |
189 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355519528 rs1290027069 |
191 | E>K | No |
ClinGen gnomAD |
|
|
CA87781668 rs762183763 |
191 | E>V | No |
ClinGen gnomAD |
|
|
CA355519563 rs1438713136 |
193 | V>G | No |
ClinGen TOPMed |
|
|
rs1215722202 CA355519558 |
193 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2707371 rs143756463 |
194 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1383980121 CA355519609 |
200 | H>Q | No |
ClinGen gnomAD |
|
|
rs1430241540 CA355519615 |
201 | H>P | No |
ClinGen TOPMed |
|
|
CA355519612 rs1410314961 |
201 | H>Y | No |
ClinGen gnomAD |
|
|
rs906637911 CA87782777 |
203 | G>S | No |
ClinGen TOPMed |
|
|
CA355519638 rs1474493300 |
205 | V>I | No |
ClinGen gnomAD |
|
|
rs747979598 CA2707373 |
206 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM208158 CA355519651 rs1419017177 |
207 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs148151130 CA2707374 |
207 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2707376 rs748778871 |
210 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs879233982 CA87782803 |
211 | N>S | No |
ClinGen Ensembl |
|
|
CA87782798 rs925203792 |
211 | N>Y | No |
ClinGen Ensembl |
|
|
rs774804913 CA2707378 |
213 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772586819 CA2707380 |
219 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs775788685 CA2707381 |
220 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1234939808 CA355519748 |
221 | C>Y | No |
ClinGen gnomAD |
|
|
CA355519752 rs1271083912 |
222 | T>A | No |
ClinGen gnomAD |
|
|
CA2707382 rs369628284 |
225 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355519809 rs1326055633 |
226 | K>R | No |
ClinGen gnomAD |
|
|
rs764317931 CA2707383 |
227 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA355519835 rs1234666440 |
228 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs776775800 CA2707385 |
228 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs776775800 CA2707384 |
228 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA355520455 rs1275403029 |
231 | V>M | No |
ClinGen gnomAD |
|
|
rs1345739350 CA355520462 |
232 | S>G | No |
ClinGen gnomAD |
|
|
rs1210300548 CA355520470 |
233 | L>V | No |
ClinGen gnomAD |
|
|
rs1486928102 CA355520477 |
234 | G>D | No |
ClinGen gnomAD |
|
|
rs1278799295 CA355520474 |
234 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2707401 rs768968250 |
236 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776881663 CA355520491 |
237 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA87783905 rs955446846 |
237 | I>M | No |
ClinGen TOPMed |
|
|
rs776881663 CA2707402 |
237 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391664232 CA355520503 |
238 | M>I | No |
ClinGen gnomAD |
|
|
CA355520500 rs1186675362 |
238 | M>R | No |
ClinGen gnomAD |
|
|
rs1003749282 CA87783906 |
238 | M>V | No |
ClinGen TOPMed |
|
|
rs770164810 CA2707404 |
240 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355520531 rs1397919520 |
242 | W>* | No |
ClinGen TOPMed |
|
|
rs763132118 CA2707407 |
244 | Y>* | No |
ClinGen ExAC |
|
|
rs773387843 CA2707406 |
244 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA355520564 rs1416094434 |
247 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1316202592 CA355520570 |
248 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM3781111 CA87783938 rs145057740 |
250 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs868848874 CA87783929 |
250 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2707408 rs531984277 |
251 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 252 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752638646 CA2707409 |
253 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055068487 CA87783961 |
253 | Q>R | No |
ClinGen Ensembl |
|
|
CA2707456 rs138791414 |
256 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748406009 CA2707458 |
258 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs748406009 CA2707457 |
258 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA355520659 rs1470453842 |
259 | V>A | No |
ClinGen gnomAD |
|
|
CA2707459 rs778140965 |
260 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2707460 rs749566349 |
261 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707462 rs774251103 |
263 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs745961920 CA2707463 |
266 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371089824 CA355520709 |
266 | F>V | No |
ClinGen TOPMed |
|
|
CA2707464 rs768418213 |
268 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1328233186 CA355520738 |
270 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 273 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372627044 CA2707465 |
275 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372627044 CA87784762 |
275 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761590100 CA2707466 |
275 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2707467 rs765056060 |
277 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA355520802 rs1334532398 |
279 | L>P | No |
ClinGen gnomAD |
|
|
rs1428992772 CA355520823 |
282 | S>L | No |
ClinGen TOPMed |
|
|
rs762544820 CA2707469 |
283 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355520828 rs762544820 |
283 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355520862 rs1319228548 |
288 | N>D | No |
ClinGen gnomAD |
|
|
rs1273376276 CA355520866 |
288 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA355520864 rs1273376276 |
288 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 291 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193756720 CA355520900 |
292 | M>I | No |
ClinGen gnomAD |
|
|
rs1462703912 CA355520895 |
292 | M>V | No |
ClinGen TOPMed |
|
|
rs1249205852 CA355520907 |
293 | T>S | No |
ClinGen gnomAD |
|
|
CA87784806 rs974124112 |
294 | E>K | No |
ClinGen TOPMed |
|
|
rs766088614 CA2707470 |
295 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355520953 rs1485286314 |
298 | G>D | No |
ClinGen gnomAD |
|
|
rs762742246 CA2707486 |
299 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs765891768 CA87784980 |
302 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM232232 CA2707488 rs774113446 |
302 | P>L | skin prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765891768 CA2707487 COSM232231 |
302 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2707491 rs753237241 |
305 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs753237241 CA87785042 |
305 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs375708654 CA2707490 |
305 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1252935347 CA355521003 |
306 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 307 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA87785084 rs932569715 |
308 | C>Y | No |
ClinGen TOPMed |
|
|
rs185535917 CA2707493 |
311 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1225316979 CA355521039 |
312 | V>L | No |
ClinGen TOPMed |
|
|
rs368163367 CA2707495 |
315 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2707494 rs754193804 |
315 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707496 rs778996603 |
317 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs371845005 CA87785104 |
317 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA87785100 rs1008089831 |
317 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2707497 rs141974807 |
319 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2707499 rs758384949 |
320 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355521100 rs1257692794 |
321 | L>R | No |
ClinGen gnomAD |
|
|
rs1420843429 CA355521098 |
321 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1484747243 CA355521108 |
322 | P>L | No |
ClinGen gnomAD |
|
|
rs780132969 CA2707500 |
323 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2707501 rs747123435 |
324 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015823294 CA355521124 |
325 | P>A | No |
ClinGen TOPMed |
|
|
CA355521127 rs1451526900 |
325 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1015823294 CA87785149 |
325 | P>S | No |
ClinGen TOPMed |
|
|
rs918533119 CA87785155 |
327 | K>E | No |
ClinGen Ensembl |
|
|
rs138074177 CA2707503 |
330 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1159662153 CA355521157 |
330 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA355521184 rs1343982672 |
334 | Q>* | No |
ClinGen gnomAD |
|
|
rs1393304201 CA355521236 |
339 | G>R | No |
ClinGen gnomAD |
|
|
rs1294744883 CA355521245 |
340 | S>N | No |
ClinGen gnomAD |
|
|
CA87785354 rs1035981302 |
344 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355521283 rs1288929341 |
345 | A>S | No |
ClinGen gnomAD |
|
|
CA2707516 rs750766918 |
345 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1637973 CA2707517 rs777991375 |
346 | R>* | bone [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2707518 rs780284987 |
346 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2707519 rs374691305 |
351 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2707521 rs777654187 |
353 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2707520 rs755097248 |
353 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs749311125 CA2707522 |
354 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2707537 rs755043861 |
358 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755043861 CA355521376 |
358 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707538 rs767639409 |
359 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1415386906 CA355521386 |
359 | T>S | No |
ClinGen TOPMed |
|
|
CA2707539 rs752728790 |
360 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA355521390 rs1166636030 |
360 | P>S | No |
ClinGen TOPMed |
|
|
CA2707540 rs757147674 |
362 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs113731360 CA87786408 |
363 | K>R | No |
ClinGen Ensembl |
|
|
rs1229462948 CA355521432 COSM1420663 |
366 | V>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs369761944 CA2707541 |
368 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279960428 CA355521468 |
372 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1444452897 CA355521493 |
376 | S>G | No |
ClinGen gnomAD |
|
|
rs1214120857 CA355521502 |
377 | N>Y | No |
ClinGen gnomAD |
|
|
rs779851315 CA2707544 |
378 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs542101248 CA2707545 |
378 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2707546 rs542101248 |
378 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA87786477 rs887122995 |
380 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2707547 rs776140573 |
381 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs747643442 CA2707548 |
381 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707549 rs770285262 |
382 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554119918 CA2707550 |
382 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355521555 rs1315924523 |
386 | T>A | No |
ClinGen gnomAD |
|
|
rs1034294075 CA87786518 |
386 | T>I | No |
ClinGen TOPMed |
|
|
rs149545099 CA2707551 |
388 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766793430 CA2707552 |
389 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA87786545 rs1041152941 |
390 | L>P | No |
ClinGen TOPMed |
|
|
CA87786567 rs372971067 |
392 | R>G | No |
ClinGen ESP TOPMed |
|
|
CA87786574 rs993086516 |
393 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs774539308 CA2707553 |
393 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs572038937 CA2707554 |
394 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1275915782 CA355521608 |
395 | D>V | No |
ClinGen gnomAD |
|
|
rs752777954 CA2707556 |
396 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707558 rs765193724 |
399 | F>L | No |
ClinGen ExAC |
|
|
COSM1420665 rs754828041 CA2707560 |
402 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs148663230 CA2707561 |
402 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754828041 CA355521649 |
402 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA87786614 rs748159882 |
404 | R>C | No |
ClinGen gnomAD |
|
|
rs1163586262 CA355521671 |
405 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 407 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs977493938 CA87786635 |
409 | H>P | No |
ClinGen TOPMed |
|
|
CA2707564 rs780731184 |
409 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA87786651 rs1031511718 |
411 | L>V | No |
ClinGen Ensembl |
|
|
rs1410882023 CA355521718 |
413 | I>T | No |
ClinGen gnomAD |
|
|
CA2707566 rs769225953 |
413 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773763009 CA2707567 |
414 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs936037216 CA87786685 |
418 | D>G | No |
ClinGen TOPMed |
|
|
CA87786673 rs370288307 |
418 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2707569 rs370288307 |
418 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2707571 rs759921723 |
419 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs774628790 CA2707570 |
419 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs767708975 CA2707572 |
420 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355521773 rs1292159312 |
423 | P>A | No |
ClinGen TOPMed |
|
|
rs370094220 CA87786722 |
427 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs374930176 CA2707575 |
429 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2707590 rs772387701 |
432 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775770550 CA2707591 |
433 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 434 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355521870 rs1370437277 |
435 | S>Y | No |
ClinGen gnomAD |
|
|
rs1576885323 CA355521891 |
438 | K>R | No |
ClinGen Ensembl |
|
|
rs1371314771 CA355521925 |
443 | S>T | No |
ClinGen gnomAD |
|
|
rs890643064 CA87790213 |
444 | T>S | No |
ClinGen Ensembl |
|
|
rs762006464 CA2707595 |
445 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA355521947 rs1311609266 |
447 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2707597 rs751587812 |
449 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355521975 rs1438782082 |
451 | S>* | No |
ClinGen TOPMed |
|
|
CA2707600 TCGA novel rs752547114 |
454 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA355521993 rs1576885568 |
454 | W>G | No |
ClinGen Ensembl |
|
|
CA2707601 rs755653414 |
455 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2707602 rs777508139 |
456 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA87790237 rs891236711 |
470 | I>M | No |
ClinGen TOPMed |
|
|
CA355522124 rs1254206806 |
472 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 472 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230431391 CA355522120 |
472 | A>S | No |
ClinGen gnomAD |
|
|
rs779392868 CA2707605 |
474 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2707604 rs142726045 |
474 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355522638 rs1339725524 |
477 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs780633843 CA2707627 |
478 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA355522656 rs1348351826 |
480 | V>L | No |
ClinGen gnomAD |
|
|
rs541472301 CA87793632 |
485 | E>G | No |
ClinGen 1000Genomes |
|
|
CA2707631 rs748437185 COSM208161 |
488 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA2707632 rs770152655 |
488 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1386686389 CA355522720 |
489 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 491 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780034929 CA87793662 |
491 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 493 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs910494942 CA87793677 |
493 | L>V | No |
ClinGen Ensembl |
|
| rs1389234362 | 497 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355522776 rs1291250391 |
498 | I>T | No |
ClinGen TOPMed |
|
|
CA2707636 rs775543560 |
499 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs760385662 CA2707637 |
500 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355522815 rs1458475002 |
504 | S>I | No |
ClinGen gnomAD |
|
|
CA355522829 rs1457998117 |
506 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355522834 rs1208066079 |
507 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA87793700 rs199727715 |
511 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 518 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355522948 rs1576933099 |
520 | E>D | No |
ClinGen Ensembl |
|
|
CA2707661 rs761620510 |
521 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896180667 CA355522958 |
522 | L>F | No |
ClinGen TOPMed |
|
|
rs896180667 CA87798333 |
522 | L>V | No |
ClinGen TOPMed |
|
|
rs1229703071 CA355522966 |
523 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2707663 rs150074077 |
523 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139406177 CA2707662 |
523 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA87798345 rs1044829456 |
525 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 527 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182472799 CA2707666 |
527 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182472799 CA2707665 |
527 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1309367097 CA355523001 |
528 | E>D | No |
ClinGen TOPMed |
|
|
CA355522995 rs1483371275 |
528 | E>K | No |
ClinGen gnomAD |
|
|
CA2707667 rs760051921 |
529 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA355523011 rs1387727278 |
530 | K>E | No |
ClinGen gnomAD |
|
|
rs146593737 CA2707668 |
531 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753059444 CA2707669 |
533 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA355523041 rs1367229595 |
534 | D>G | No |
ClinGen TOPMed |
|
|
CA2707670 rs756591795 |
538 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA87799108 rs953948888 |
540 | S>A | No |
ClinGen TOPMed |
|
|
rs761111078 CA2707693 |
542 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA355523112 rs1198032098 |
543 | L>V | No |
ClinGen gnomAD |
|
|
CA2707694 rs764465351 |
545 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA355523140 rs1411047305 |
547 | Y>C | No |
ClinGen gnomAD |
|
|
CA2707695 rs754160435 |
547 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2707696 rs757464407 |
548 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2707697 rs779027185 |
549 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1388590005 CA355523178 |
553 | F>L | No |
ClinGen gnomAD |
|
|
rs370269909 CA2707698 |
554 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1367982822 CA355523213 |
557 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA355523228 rs1288096296 |
559 | E>G | No |
ClinGen gnomAD |
|
|
rs978509057 CA87799118 |
560 | T>A | No |
ClinGen Ensembl |
|
|
CA355523238 rs748139962 |
561 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707703 rs748139962 |
561 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707705 rs777557124 |
567 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs764543607 CA2707719 |
582 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA355523409 rs762134506 |
583 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs762134506 CA2707721 |
583 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765467054 CA2707722 |
585 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2707723 rs750712714 |
586 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226000442 CA355523456 |
590 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs758461325 CA355523455 |
590 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2707724 rs758461325 |
590 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 591 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766386227 CA2707725 |
591 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767189308 CA87799598 |
592 | L>H | No |
ClinGen Ensembl |
|
|
rs1483234378 CA355523471 |
593 | L>F | No |
ClinGen gnomAD |
|
|
rs751641551 CA2707726 |
593 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs141355749 CA2707727 |
595 | R>* | No |
ClinGen ESP ExAC TOPMed |
|
|
CA355523484 rs1253871843 |
595 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1037107699 CA87799624 |
599 | R>M | No |
ClinGen Ensembl |
|
|
CA355523536 rs1447764477 |
603 | V>L | No |
ClinGen gnomAD |
|
|
CA2707730 rs757039975 |
604 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA87799635 rs199828524 |
605 | L>F | No |
ClinGen Ensembl |
|
|
rs1464014083 CA355523569 |
608 | N>I | No |
ClinGen gnomAD |
|
|
CA355510190 rs1334123872 |
612 | K>M | No |
ClinGen TOPMed |
|
|
CA2707745 rs751588624 |
615 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755058615 CA2707746 |
616 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA355510212 rs1326356837 |
616 | D>N | No |
ClinGen gnomAD |
|
|
CA2707747 rs764057348 |
618 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs753783588 CA2707748 |
620 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs757057926 CA2707749 |
621 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs565477429 CA2707750 |
622 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs565477429 CA355510257 |
622 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA87765156 rs866090794 |
623 | T>I | No |
ClinGen TOPMed |
|
|
CA355510266 rs1559983337 |
624 | L>V | No |
ClinGen Ensembl |
|
|
CA355510298 rs1486897032 |
628 | I>T | No |
ClinGen gnomAD |
|
|
CA2707751 rs199586643 |
628 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2707752 rs758079284 |
629 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA87765174 rs1002661993 |
635 | M>I | No |
ClinGen Ensembl |
|
|
CA2707754 rs145038110 |
636 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355512066 rs1425149293 |
638 | I>V | No |
ClinGen gnomAD |
|
|
rs1298573669 CA355512211 |
642 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs149955855 CA2707768 |
645 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2707769 rs765292479 |
648 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA87774565 rs916890985 |
648 | Q>R | No |
ClinGen TOPMed |
|
|
rs758308452 CA2707771 |
650 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1356559135 CA355512369 |
651 | I>V | No |
ClinGen TOPMed |
|
|
rs779849187 CA2707772 |
653 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 660 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751229525 CA2707774 |
662 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs962137059 CA87774840 |
664 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1471113207 CA355512947 |
669 | H>Y | No |
ClinGen gnomAD |
|
|
rs1318618750 CA355512964 |
670 | R>* | No |
ClinGen gnomAD |
|
|
rs766221474 COSM1041355 CA2707792 |
670 | R>Q | endometrium Variant assessed as Somatic; 4.629e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751375982 CA2707793 |
672 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA355513038 rs1272452863 |
674 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs146823982 CA2707794 |
675 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1365878389 CA355513051 |
675 | R>W | No |
ClinGen gnomAD |
|
|
rs780918017 CA2707795 |
676 | V>D | No |
ClinGen ExAC |
|
|
CA355513068 rs1323784615 |
678 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs755660724 CA2707797 |
679 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707798 rs778243930 |
680 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs778243930 CA87774920 |
680 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767077580 COSM160634 CA2707799 |
681 | L>V | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs779109199 CA2707801 |
683 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370765148 CA87774932 |
685 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 686 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399426659 CA355513123 |
687 | D>H | No |
ClinGen TOPMed |
|
|
CA355513135 rs772166829 |
688 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1481504450 CA355513141 |
689 | G>A | No |
ClinGen gnomAD |
|
|
rs1343540334 CA355513151 |
691 | Q>* | No |
ClinGen TOPMed |
|
|
CA2707804 rs775825627 |
691 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1357376300 CA355513185 |
696 | L>F | No |
ClinGen gnomAD |
|
|
CA355513196 rs1481685813 |
697 | F>L | No |
ClinGen TOPMed |
|
|
rs776866520 CA2707807 |
698 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs762919759 CA2707808 |
698 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958709897 CA355513220 |
701 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA87776987 rs757550456 |
703 | I>K | No |
ClinGen Ensembl |
|
|
rs371264524 CA2707827 |
704 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355513263 rs1444104355 |
706 | K>E | No |
ClinGen gnomAD |
|
|
rs759246418 CA2707828 |
706 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387610515 CA355513284 |
707 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA355513334 rs1167698036 |
710 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1397663335 CA355513346 |
711 | I>V | No |
ClinGen gnomAD |
|
|
CA2707829 rs767399340 |
712 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 712 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355513403 rs1456247190 |
714 | F>S | No |
ClinGen gnomAD |
|
|
rs779447704 CA87777044 |
715 | R>S | No |
ClinGen gnomAD |
|
|
rs1011519231 CA87777054 |
716 | S>C | No |
ClinGen Ensembl |
|
|
rs1455638792 CA355513431 |
716 | S>N | No |
ClinGen TOPMed |
|
|
rs1039702294 CA87777064 |
718 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA355513467 rs1039702294 |
718 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1022455012 CA87777070 |
719 | G>V | No |
ClinGen Ensembl |
|
|
CA355513484 rs1451238526 |
720 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA355513486 rs1451238526 |
720 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA355513509 rs1315200099 |
722 | R>G | No |
ClinGen gnomAD |
|
|
rs775275237 CA2707830 |
722 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760251149 CA2707831 |
723 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 724 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 725 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339843799 CA355513654 |
731 | H>D | No |
ClinGen gnomAD |
|
|
CA355513668 rs1247863443 |
731 | H>Q | No |
ClinGen TOPMed |
|
|
rs201888408 CA2707833 |
731 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355513717 rs1461080424 |
734 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 737 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355513768 rs1269350272 |
737 | Q>E | No |
ClinGen TOPMed |
|
|
CA355513805 rs1245116262 |
738 | I>M | No |
ClinGen gnomAD |
|
|
CA2707834 rs756803524 |
741 | V>I | No |
ClinGen ExAC |
|
|
CA2707836 rs143320313 |
744 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2707837 rs368895882 |
745 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463881833 CA355513947 |
745 | R>T | No |
ClinGen gnomAD |
|
|
CA355513969 rs1403412717 |
746 | E>G | No |
ClinGen gnomAD |
|
|
CA355513962 rs1171233799 |
746 | E>Q | No |
ClinGen gnomAD |
|
|
rs1336811997 CA355514000 |
748 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs533896795 CA87778595 |
749 | D>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 749 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301154000 CA355515337 |
750 | C>* | No |
ClinGen TOPMed |
|
|
rs79814541 CA87778600 |
750 | C>F | No |
ClinGen Ensembl |
|
|
rs148097293 CA2707860 |
750 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369446085 CA87778614 |
751 | H>L | No |
ClinGen ESP gnomAD |
|
|
rs369446085 CA87778609 |
751 | H>R | No |
ClinGen ESP gnomAD |
|
|
CA2707861 rs753026373 |
752 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355515441 rs1283086794 |
758 | V>M | No |
ClinGen gnomAD |
|
|
rs1430554841 CA355515515 |
761 | P>L | No |
ClinGen Ensembl |
|
|
rs1486391296 CA355515528 |
762 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2707863 rs777839079 |
762 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707864 rs749355627 |
764 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707866 rs780010313 |
767 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs376803300 CA2707865 |
767 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455234434 CA355515662 |
770 | S>R | No |
ClinGen gnomAD |
|
|
rs1364689301 CA355515713 |
773 | M>V | No |
ClinGen gnomAD |
|
|
rs768502473 CA2707868 |
778 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455047764 CA355515865 |
779 | P>L | No |
ClinGen TOPMed |
|
|
rs776424238 CA2707869 |
782 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185362298 CA355515995 |
784 | L>Q | No |
ClinGen TOPMed |
|
|
CA2707873 rs762416758 |
786 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs899954610 CA87778657 |
787 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1291724943 CA355516087 |
789 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1360839374 CA355516094 |
789 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA355516128 rs1354289158 |
790 | H>R | No |
ClinGen Ensembl |
|
|
rs1231596909 CA355516147 |
791 | V>A | No |
ClinGen gnomAD |
|
|
CA2707875 rs752178167 |
798 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759965844 CA2707876 |
800 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs1183539692 | 801 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355517930 rs1294383841 |
804 | I>T | No |
ClinGen TOPMed |
|
|
CA355517927 rs1417064606 |
804 | I>V | No |
ClinGen gnomAD |
|
|
rs1427733000 CA355517951 |
807 | A>T | No |
ClinGen gnomAD |
|
|
CA2707891 rs769468295 |
809 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA87783850 rs868098390 |
809 | P>L | No |
ClinGen Ensembl |
|
|
CA87783840 rs769468295 |
809 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468485643 CA355517985 |
810 | E>K | No |
ClinGen gnomAD |
|
|
CA355518009 rs1336091183 |
811 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA355518044 rs1349293673 |
814 | V>I | No |
ClinGen TOPMed |
|
|
CA2707894 rs770622780 |
818 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA355518119 rs774010962 |
819 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs760049743 CA2707896 |
819 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707895 rs774010962 |
819 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1384135433 CA355518150 |
821 | S>G | No |
ClinGen gnomAD |
|
|
rs1162418618 CA355518199 |
824 | S>N | No |
ClinGen TOPMed |
|
|
rs1201389784 CA355518244 |
828 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1365011764 CA355518284 |
830 | I>M | No |
ClinGen gnomAD |
|
|
COSM1204901 CA2707898 rs150167560 |
832 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| VAR_035975 | 833 | T>P | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1212098956 CA355518335 |
834 | S>* | No |
ClinGen gnomAD |
|
|
rs760987903 CA2707899 |
835 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1560030630 | 836 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2707922 rs148401966 |
837 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 840 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248252734 CA355518416 |
840 | A>T | No |
ClinGen gnomAD |
|
|
CA355518422 rs1560032107 |
840 | A>V | No |
ClinGen Ensembl |
|
|
CA355518447 rs1438248916 |
842 | S>A | No |
ClinGen gnomAD |
|
|
CA87784598 rs757233396 |
845 | K>R | No |
ClinGen Ensembl |
|
|
rs1349363025 CA355518500 |
846 | T>S | No |
ClinGen gnomAD |
|
|
rs200766864 CA2707924 |
850 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464304559 CA355518568 |
851 | L>F | No |
ClinGen gnomAD |
|
|
CA87784603 rs765019478 |
852 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM172368 rs1357254587 CA355518582 |
852 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM3945149 CA355518589 rs1292314444 |
853 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA355518586 rs1327400520 |
853 | R>T | No |
ClinGen TOPMed |
|
|
rs767483120 CA2707925 |
855 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767483120 CA87784618 |
855 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750584970 CA2707926 |
856 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1470571330 CA355518647 |
858 | S>C | No |
ClinGen gnomAD |
|
|
rs1470571330 CA355518646 |
858 | S>Y | No |
ClinGen gnomAD |
|
|
rs777360735 CA2707928 |
860 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424645543 CA355518686 |
861 | S>* | No |
ClinGen gnomAD |
|
|
CA355518711 rs1395412388 |
863 | E>D | No |
ClinGen TOPMed |
|
|
CA355518716 rs1164598126 |
864 | G>R | No |
ClinGen gnomAD |
|
|
rs889551266 CA355518734 |
865 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA355518736 rs1406693257 |
865 | R>S | No |
ClinGen gnomAD |
|
|
CA87784631 rs889551266 |
865 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA87784632 rs1007022602 |
866 | S>C | No |
ClinGen TOPMed |
|
|
CA355518747 rs1433728529 |
866 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753717689 CA2707930 |
870 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2707931 rs756920683 COSM729046 |
871 | D>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1310889394 CA355518817 |
871 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs756920683 CA87784668 |
871 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2707932 rs778756277 |
873 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs900860060 CA87784687 |
875 | M>V | No |
ClinGen TOPMed |
|
|
CA355518894 rs1221596751 |
877 | R>C | No |
ClinGen Ensembl |
|
|
COSM1420671 rs771541610 CA2707934 |
877 | R>H | Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA355518922 rs1248613891 |
879 | S>C | No |
ClinGen TOPMed |
|
|
rs373347484 CA2707935 |
879 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA87784702 rs758541650 |
880 | S>G | No |
ClinGen gnomAD |
|
|
rs1159408512 CA355518955 |
882 | S>L | No |
ClinGen gnomAD |
|
|
rs376069595 CA2707937 |
883 | S>L | No |
ClinGen ESP ExAC |
|
|
rs1438657126 CA355518990 |
885 | A>E | No |
ClinGen gnomAD |
|
|
CA2707961 rs774246757 |
886 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs759710204 CA2707962 |
887 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1019200837 CA87786936 |
888 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs377416096 CA2707963 COSM1693816 |
888 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA2707964 rs776774300 |
889 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs776774300 CA355519182 |
889 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA355519219 rs1322719801 |
892 | L>F | No |
ClinGen gnomAD |
|
|
rs761857205 CA2707965 |
894 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA87786991 rs899030594 |
898 | F>L | No |
ClinGen TOPMed |
|
|
CA355519367 rs1197455067 |
903 | S>N | No |
ClinGen gnomAD |
|
|
rs1423042839 CA355519384 |
904 | H>R | No |
ClinGen TOPMed |
|
|
rs757942930 CA355519397 |
905 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757942930 CA2707969 |
905 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355519424 rs1263409677 |
907 | S>I | No |
ClinGen gnomAD |
|
|
rs1181704879 CA355519436 |
908 | R>T | No |
ClinGen gnomAD |
|
|
CA355519464 rs1412755004 |
910 | T>R | No |
ClinGen gnomAD |
|
|
CA2707970 rs766107326 |
912 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9H8V3
4 regional properties for Q9H8V3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 452 - 641 | IPR000219 |
| conserved_site | Guanine-nucleotide dissociation stimulator, CDC24, conserved site | 589 - 614 | IPR001331 |
| domain | BRCT domain | 174 - 251 | IPR001357-1 |
| domain | BRCT domain | 266 - 354 | IPR001357-2 |
Functions
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| centralspindlin complex | A heterotetrameric protein complex playing a key role in the formation of the central spindle in mitosis. Made up of two molecules each of a mitotic kinesin (ZEN-4 in Caenorhabditis elegans or MKLP1 in mammals) and of two molecules each of a GTPase activating protein (GAP) factor (CYK-4 in Caenorhabditis elegans or MgcRacGAP in mammals). |
| cleavage furrow | The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| small GTPase binding | Binding to a small monomeric GTPase. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| activation of protein kinase activity | Any process that initiates the activity of an inactive protein kinase. |
| bicellular tight junction assembly | The aggregation, arrangement and bonding together of a set of components to form a tight junction, an occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| cellular response to hydrogen peroxide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus. |
| cellular response to ionizing radiation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of cytokinesis | Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| positive regulation of neuron differentiation | Any process that activates or increases the frequency, rate or extent of neuron differentiation. |
| positive regulation of protein import into nucleus | Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of attachment of spindle microtubules to kinetochore | Any process that modulates the frequency, rate or extent of the attachment of spindle microtubules to the kinetochore. |
| regulation of cytokinesis, actomyosin contractile ring assembly | Any process that modulates the frequency, rate or extent of cytokinesis, actomyosin contractile ring assembly. |
| regulation of protein kinase activity | Any process that modulates the frequency, rate or extent of protein kinase activity. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAENSVLTST | TGRTSLADSS | IFDSKVTEIS | KENLLIGSTS | YVEEEMPQIE | TRVILVQEAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KQEELIKALK | TIKIMEVPVI | KIKESCPGKS | DEKLIKSVIN | MDIKVGFVKM | ESVEEFEGLD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SPEFENVFVV | TDFQDSVFND | LYKADCRVIG | PPVVLNCSQK | GEPLPFSCRP | LYCTSMMNLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LCFTGFRKKE | ELVRLVTLVH | HMGGVIRKDF | NSKVTHLVAN | CTQGEKFRVA | VSLGTPIMKP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EWIYKAWERR | NEQDFYAAVD | DFRNEFKVPP | FQDCILSFLG | FSDEEKTNME | EMTEMQGGKY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LPLGDERCTH | LVVEENIVKD | LPFEPSKKLY | VVKQEWFWGS | IQMDARAGET | MYLYEKANTP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ELKKSVSMLS | LNTPNSNRKR | RRLKETLAQL | SRETDVSPFP | PRKRPSAEHS | LSIGSLLDIS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NTPESSINYG | DTPKSCTKSS | KSSTPVPSKQ | SARWQVAKEL | YQTESNYVNI | LATIIQLFQV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PLEEEGQRGG | PILAPEEIKT | IFGSIPDIFD | VHTKIKDDLE | DLIVNWDESK | SIGDIFLKYS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KDLVKTYPPF | VNFFEMSKET | IIKCEKQKPR | FHAFLKINQA | KPECGRQSLV | ELLIRPVQRL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PSVALLLNDL | KKHTADENPD | KSTLEKAIGS | LKEVMTHINE | DKRKTEAQKQ | IFDVVYEVDG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CPANLLSSHR | SLVQRVETIS | LGEHPCDRGE | QVTLFLFNDC | LEIARKRHKV | IGTFRSPHGQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TRPPASLKHI | HLMPLSQIKK | VLDIRETEDC | HNAFALLVRP | PTEQANVLLS | FQMTSDELPK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ENWLKMLCRH | VANTICKADA | ENLIYTADPE | SFEVNTKDMD | STLSRASRAI | KKTSKKVTRA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FSFSKTPKRA | LRRALMTSHG | SVEGRSPSSN | DKHVMSRLSS | TSSLAGIPSP | SLVSLPSFFE |
| 910 | |||||
| RRSHTLSRST | THLI |