P33176
EV
Gene name |
KIF5B (KNS, KNS1) |
Protein name |
Kinesin-1 heavy chain |
Names |
Conventional kinesin heavy chain, Ubiquitous kinesin heavy chain, UKHC |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3799 |
EC number |
|
Protein Class |
CENTROMERE PROTEIN E (PTHR47968) |
Descriptions
Autoinhibitory domains (AIDs)
Target domain |
6-333 (Kinesin motor domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Structural analysis |
Accessory elements
No accessory elements
References
- Chiba K et al. (2022) "Synergistic autoinhibition and activation mechanisms control kinesin-1 motor activity", Cell reports, 39, 110900
- Dietrich KA et al. (2008) "The kinesin-1 motor protein is regulated by a direct interaction of its head and tail", Proceedings of the National Academy of Sciences of the United States of America, 105, 8938-43
- Friedman DS et al. (1999) "Single-molecule analysis of kinesin motility reveals regulation by the cargo-binding tail domain", Nature cell biology, 1, 293-7
- Sindelar CV et al. (2002) "Two conformations in the human kinesin power stroke defined by X-ray crystallography and EPR spectroscopy", Nature structural biology, 9, 844-8
Autoinhibited structure
Activated structure
21 structures for P33176
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1BG2 | X-ray | 180 A | A | 1-325 | PDB |
| 1MKJ | X-ray | 270 A | A | 1-349 | PDB |
| 2P4N | EM | 900 A | K | 1-325 | PDB |
| 3J8X | EM | 500 A | K | 1-349 | PDB |
| 3J8Y | EM | 500 A | K | 1-349 | PDB |
| 4HNA | X-ray | 319 A | K | 1-349 | PDB |
| 4LNU | X-ray | 219 A | K | 1-325 | PDB |
| 5LT0 | X-ray | 200 A | A | 1-325 | PDB |
| 5LT1 | X-ray | 195 A | A/B | 1-325 | PDB |
| 5LT2 | X-ray | 260 A | A/B/C/D/E/K | 1-325 | PDB |
| 5LT3 | X-ray | 259 A | A/B/C/D/E/K | 1-325 | PDB |
| 5LT4 | X-ray | 288 A | A/B/C/D/E/K | 1-325 | PDB |
| 6OJQ | EM | 367 A | K | 8-324 | PDB |
| 7RIK | NMR | - | A | 1-349 | PDB |
| 8IXA | EM | 420 A | S/T/U/V/W/X/Y/Z/a | 1-349 | PDB |
| 8IXB | EM | 420 A | g/k/l/m | 1-349 | PDB |
| 8IXD | EM | 440 A | S/T/U/V/W/X/Y/Z/a | 1-349 | PDB |
| 8IXE | EM | 440 A | h/l/p/q | 1-349 | PDB |
| 8IXF | EM | 440 A | S/T/U/V/W/X/Y/Z/a | 1-349 | PDB |
| 8IXG | EM | 440 A | h/l/p/q | 1-349 | PDB |
| AF-P33176-F1 | Predicted | AlphaFoldDB |
560 variants for P33176
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002463581 rs1841455410 RCV001267722 |
255 | N>missing | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA376458127 RCV000492046 rs1114167297 |
751 | H>R | Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5463457 rs763866357 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376459007 rs1483722214 |
4 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM3807071 COSM3807070 |
6 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376458944 rs1307315239 |
8 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275712747 CA376458932 |
9 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372591346 CA205411410 |
10 | K>* | No |
ClinGen TOPMed |
|
|
CA376458919 rs372591346 |
10 | K>E | No |
ClinGen TOPMed |
|
|
rs759079759 CA5463453 |
12 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1313826614 CA376458868 |
14 | R>S | No |
ClinGen gnomAD |
|
|
CA376458833 rs1564472870 |
19 | N>S | No |
ClinGen Ensembl |
|
|
rs762016230 CA5463450 |
20 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777049052 CA5463449 |
21 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs768956013 CA5463448 |
24 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780461148 CA5463446 |
28 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 29 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144954832 CA205411400 |
30 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5463444 rs745961550 |
32 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778651300 CA5463443 |
35 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA205411397 rs912740674 |
35 | G>R | No |
ClinGen Ensembl |
|
|
CA376458574 rs1357981170 |
37 | D>E | No |
ClinGen gnomAD |
|
|
rs1203503504 CA376458580 |
37 | D>G | No |
ClinGen TOPMed |
|
|
CA376458587 rs1207733303 |
37 | D>H | No |
ClinGen gnomAD |
|
|
rs1172883168 CA376458567 |
38 | T>K | No |
ClinGen TOPMed |
|
|
rs765887271 CA5463416 |
49 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs754327698 CA5463415 |
50 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5463413 rs764716384 |
50 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5463414 rs754327698 |
50 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA376457934 rs1201399285 |
51 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | F>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275289889 CA376457919 |
53 | Q>H | No |
ClinGen gnomAD |
|
|
rs761057688 CA5463412 |
53 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5463411 COSM4819538 COSM4819537 rs775994666 |
55 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
COSM6065827 COSM6065826 |
56 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1203202833 CA376457871 |
60 | Q>L | No |
ClinGen gnomAD |
|
|
rs1346056848 CA376457865 |
61 | V>A | No |
ClinGen TOPMed |
|
|
rs141022113 CA5463409 |
61 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376457859 rs1457575376 |
62 | Y>C | No |
ClinGen TOPMed |
|
|
rs1435674989 CA376457849 |
63 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs558016228 CA205409498 |
70 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 73 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM75154 COSM4947378 |
75 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4875754 COSM917769 |
78 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4865027 COSM917768 |
79 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA5463394 rs147256984 |
81 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1416314400 CA376456983 |
81 | I>V | No |
ClinGen gnomAD |
|
|
COSM917767 COSM4872154 |
82 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs756677854 CA5463393 |
83 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM6129278 COSM6129277 |
85 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376456834 rs1284049266 |
94 | T>A | No |
ClinGen TOPMed |
|
|
rs753216425 CA5463373 |
98 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5463372 rs781770474 |
102 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376456682 rs1238875721 |
103 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs751876346 CA5463370 |
104 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287987146 CA376456659 |
105 | M>T | No |
ClinGen gnomAD |
|
|
COSM3437323 COSM3437322 |
109 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA5463369 rs766831376 |
117 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175153573 CA376456266 |
132 | V>L | No |
ClinGen gnomAD |
|
|
rs765464590 CA5463349 |
137 | I>K | No |
ClinGen ExAC |
|
|
rs1426959954 CA376456226 |
137 | I>M | No |
ClinGen gnomAD |
|
|
CA376456231 rs1261325688 |
137 | I>V | No |
ClinGen TOPMed |
|
|
COSM4013841 COSM4013842 |
144 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 147 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758709788 CA5463334 |
152 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746241052 CA5463333 |
153 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs779037134 CA5463332 |
155 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1483691071 CA376455982 |
157 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 158 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs952041298 CA205406322 |
159 | K>E | No |
ClinGen Ensembl |
|
|
COSM4013840 COSM4013839 |
160 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA205406320 rs1026878615 |
160 | N>Y | No |
ClinGen Ensembl |
|
|
CA5463330 rs754110567 |
161 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 161 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764052480 CA5463329 |
164 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5463314 rs775799654 |
169 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA376455723 rs1264420363 |
171 | R>C | No |
ClinGen gnomAD |
|
|
CA205406044 rs551976993 |
171 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1427099660 CA376455695 |
173 | V>I | No |
ClinGen TOPMed |
|
|
rs1291585531 CA376455665 |
176 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 178 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376455647 rs1286098197 |
179 | V>I | No |
ClinGen gnomAD |
|
|
rs1227357340 CA376455638 |
180 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779229493 CA5463311 |
182 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5463308 rs778083274 |
183 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA205406030 rs989706395 |
187 | K>E | No |
ClinGen TOPMed |
|
|
rs1293063813 CA376455590 |
187 | K>R | No |
ClinGen gnomAD |
|
|
COSM3867126 COSM3867127 |
188 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376455585 rs1592449270 |
188 | S>T | No |
ClinGen Ensembl |
|
|
rs756090382 CA5463307 |
191 | H>R | No |
ClinGen ExAC TOPMed |
|
|
CA5463306 rs752827293 |
192 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM427499 COSM4813038 |
197 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1166259922 CA376455491 |
199 | E>D | No |
ClinGen TOPMed |
|
|
CA5463293 rs760007870 |
206 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs771240465 CA5463291 |
210 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376455416 rs771240465 |
210 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA205405989 rs771240465 |
210 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377389058 CA376455393 |
213 | K>R | No |
ClinGen gnomAD |
|
|
rs1449376198 CA376455376 |
215 | E>V | No |
ClinGen TOPMed |
|
|
COSM4818192 COSM4818193 |
217 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA5463289 rs375714954 |
219 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 228 | Y>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143795939 CA5463285 |
229 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376455221 rs1465105357 |
237 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592448414 CA376455200 |
239 | S>N | No |
ClinGen Ensembl |
|
|
rs1426343608 CA376455181 |
242 | G>R | No |
ClinGen gnomAD |
|
|
COSM4013838 COSM4013837 |
245 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA5463263 rs780070086 |
246 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 253 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 265 | I>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376455024 rs1368670934 |
265 | I>T | No |
ClinGen gnomAD |
|
|
rs969378841 CA205405512 |
270 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs745849519 CA5463261 |
271 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4948041 COSM1347618 |
273 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM917766 COSM4865954 |
275 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4865321 COSM917765 |
278 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 278 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs811044 CA205405419 |
291 | G>C | No |
ClinGen Ensembl |
|
|
rs553205253 CA5463234 |
295 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1253924674 CA376454631 |
298 | I>V | No |
ClinGen TOPMed |
|
|
CA5463232 rs750890838 |
304 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1179830901 CA376454570 |
306 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA205405406 rs138048146 |
307 | Y>H | No |
ClinGen ESP |
|
|
rs765671441 CA5463231 |
308 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA205405398 rs369265569 |
316 | L>F | No |
ClinGen TOPMed |
|
|
rs369265569 CA376454506 |
316 | L>V | No |
ClinGen TOPMed |
|
|
CA376454499 rs1373123178 |
317 | L>S | No |
ClinGen gnomAD |
|
| COSM275747 | 323 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1054993015 CA205405164 |
324 | T>S | No |
ClinGen Ensembl |
|
|
rs371030288 CA5463208 |
325 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM917764 COSM4870044 |
329 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1052822081 CA205405159 |
330 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 334 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376454000 rs1370081737 |
342 | K>N | No |
ClinGen gnomAD |
|
|
rs752907134 CA5463206 |
342 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376453982 rs1412862493 |
343 | K>N | No |
ClinGen TOPMed |
|
|
CA5463205 rs767638980 |
347 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 349 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759869340 CA5463204 |
349 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 351 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 351 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 351 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5463203 rs774285656 |
352 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259993549 CA376453834 |
353 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5463202 rs771050706 |
353 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA376453833 rs1259993549 |
353 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5463200 rs141896420 |
355 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376453808 rs1270491359 |
355 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5463199 rs769527238 |
356 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM4866723 COSM917763 |
357 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1205338615 CA376453764 |
358 | I>T | No |
ClinGen TOPMed |
|
|
CA376453727 rs747947632 |
360 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5463198 rs747947632 |
360 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5463197 rs74951410 |
362 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1233481536 CA376453699 |
362 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs746733075 CA5463195 |
363 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA376453687 rs1368980872 |
363 | N>S | No |
ClinGen Ensembl |
|
|
CA376453640 rs1286201624 |
366 | N>S | No |
ClinGen gnomAD |
|
|
rs1409175228 CA376453602 |
369 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5463193 rs758020230 |
369 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376453597 rs758020230 |
369 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5463194 rs758020230 |
369 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs199947826 | 370 | N>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA205405119 rs948545622 |
370 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs199947826 CA5463192 |
370 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs182324493 CA5463171 |
373 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5463172 rs778633663 |
373 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs190199916 CA5463169 |
376 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5463170 rs190199916 |
376 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755404986 CA5463168 |
381 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA376453306 rs1469579006 |
385 | A>G | No |
ClinGen gnomAD |
|
|
rs766599011 CA376453292 |
386 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766599011 CA5463166 |
386 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913091189 CA205404850 |
387 | L>F | No |
ClinGen gnomAD |
|
|
CA205404852 rs971221781 |
387 | L>W | No |
ClinGen gnomAD |
|
|
CA376453229 rs1437270341 |
390 | F>L | No |
ClinGen gnomAD |
|
|
CA5463164 rs758404116 |
391 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA205404841 rs968491198 |
392 | V>M | No |
ClinGen TOPMed |
|
|
CA376453170 rs1311532765 |
395 | D>N | No |
ClinGen gnomAD |
|
|
rs370876366 CA5463163 |
396 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 397 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218959742 CA376453125 |
398 | L>P | No |
ClinGen TOPMed |
|
|
CA5463162 rs565048734 |
399 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376453112 rs565048734 |
399 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5463161 rs761633688 |
400 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376453091 rs1373199489 |
401 | D>N | No |
ClinGen gnomAD |
|
|
rs377656602 CA5463159 |
406 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1347617 COSM4177509 CA5463158 rs377656602 |
406 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs954241457 CA205404817 |
406 | A>V | No |
ClinGen TOPMed |
|
|
CA5463157 rs775217268 |
407 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771847373 CA376453000 |
407 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA5463156 rs771847373 |
407 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA376453008 rs775217268 |
407 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5463154 rs773976647 |
410 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5463155 rs374297043 |
410 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455192949 CA376452949 |
411 | G>E | No |
ClinGen gnomAD |
|
|
rs1461216865 CA376452909 |
414 | T>P | No |
ClinGen TOPMed |
|
|
rs532228096 CA5463153 |
416 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA205404809 rs534927383 |
418 | R>I | No |
ClinGen Ensembl |
|
|
COSM4816176 COSM427498 |
422 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376452768 rs1187597409 |
423 | E>A | No |
ClinGen gnomAD |
|
|
rs1351815733 CA376452772 |
423 | E>K | No |
ClinGen TOPMed |
|
|
rs1592447271 CA376452726 |
426 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 426 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376452700 rs1482773533 |
428 | L>V | No |
ClinGen gnomAD |
|
|
rs370106572 CA205404802 |
430 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1195289054 CA376452298 |
439 | I>M | No |
ClinGen gnomAD |
|
|
rs1272655332 CA376452301 |
439 | I>S | No |
ClinGen gnomAD |
|
|
rs762540526 CA5463135 |
445 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs376014102 CA205404496 |
446 | V>I | No |
ClinGen ESP |
|
|
CA5463133 rs200492046 |
450 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202228136 CA5463132 |
451 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349165109 CA376452200 CA376452201 |
453 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1328708490 CA376452186 |
455 | D>A | No |
ClinGen gnomAD |
|
|
CA5463117 rs772763645 |
461 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769232041 CA5463116 |
462 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5463115 rs560751572 |
463 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA205403904 rs373626902 |
464 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
| COSM1492246 | 465 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 467 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376451601 rs1162378120 |
468 | D>G | No |
ClinGen TOPMed |
|
|
rs1406920861 CA376451564 |
469 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5463114 rs776007344 |
469 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746242956 CA5463112 |
472 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3867124 COSM3867125 |
474 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4784524 COSM1347616 |
475 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376451348 rs774369338 |
476 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1020666487 COSM4696180 COSM4696179 CA205403895 |
476 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
CA5463111 rs774369338 |
476 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA376451314 rs1592445832 |
478 | Q>E | No |
ClinGen Ensembl |
|
|
rs1423323658 CA376451304 |
478 | Q>L | No |
ClinGen TOPMed |
|
|
CA5463110 rs771173918 |
479 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1463841873 CA376451276 |
480 | E>Q | No |
ClinGen gnomAD |
|
|
CA5463108 rs777879782 |
481 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376451215 rs1391956964 |
482 | D>E | No |
ClinGen TOPMed |
|
|
COSM917760 COSM4864838 |
482 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376451189 rs59681007 |
484 | S>C | No |
ClinGen TOPMed |
|
|
rs59681007 CA205403883 |
484 | S>F | No |
ClinGen TOPMed |
|
|
CA376451197 rs1327174149 |
484 | S>T | No |
ClinGen TOPMed |
|
|
CA376451185 rs1224868019 |
485 | K>E | No |
ClinGen gnomAD |
|
|
rs1272628481 CA376451161 |
486 | E>* | No |
ClinGen gnomAD |
|
|
COSM917759 COSM4872685 |
494 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs113397401 CA205403875 |
495 | L>Q | No |
ClinGen Ensembl |
|
|
rs1048229545 CA205403873 |
501 | N>S | No |
ClinGen Ensembl |
|
|
CA5463102 rs371721879 |
503 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5463101 rs758043331 |
505 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5463099 rs764762832 |
509 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376450959 rs1484998673 |
512 | K>R | No |
ClinGen gnomAD |
|
|
rs1241965396 CA376450954 |
513 | T>A | No |
ClinGen gnomAD |
|
|
rs199769132 CA5463097 |
513 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA205403850 rs973850430 |
518 | L>W | No |
ClinGen Ensembl |
|
|
rs1592445724 CA376450904 |
520 | S>R | No |
ClinGen Ensembl |
|
|
CA376450876 rs1316658574 |
523 | L>F | No |
ClinGen gnomAD |
|
|
CA5463095 rs760095514 |
524 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs749487701 | 527 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35441986 CA5463093 |
527 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 529 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376450216 rs1237212656 |
530 | L>* | No |
ClinGen TOPMed |
|
|
CA5463081 rs764881107 |
531 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs375091697 CA5463079 |
533 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376450178 rs1353525044 |
533 | I>T | No |
ClinGen TOPMed |
|
|
CA376450146 rs763644016 |
535 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763644016 CA5463078 |
535 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5463077 rs760007766 |
536 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1476500847 CA376450064 |
539 | K>N | No |
ClinGen gnomAD |
|
|
CA376450077 rs1357273242 |
539 | K>Q | No |
ClinGen gnomAD |
|
|
COSM684478 COSM4858455 |
539 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1024291972 CA205403151 |
540 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1460532296 CA376450034 |
541 | K>N | No |
ClinGen gnomAD |
|
|
COSM917758 COSM4784359 |
543 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs148844791 CA5463076 |
543 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171418777 CA376449977 |
544 | T>I | No |
ClinGen gnomAD |
|
|
CA376449964 rs766720739 |
545 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs766720739 CA5463075 |
545 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1416192002 CA376449954 |
546 | H>Y | No |
ClinGen gnomAD |
|
| rs745430029 | 550 | R>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370666912 CA205403132 |
552 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs370666912 CA205403137 |
552 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1025348861 CA205403128 |
561 | D>E | No |
ClinGen TOPMed |
|
|
CA376449697 rs1480040992 |
561 | D>Y | No |
ClinGen gnomAD |
|
|
CA376449680 rs1167053642 |
562 | L>F | No |
ClinGen Ensembl |
|
|
rs377645626 CA5463072 |
563 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206231500 CA376449649 |
564 | E>G | No |
ClinGen gnomAD |
|
|
rs1437688293 CA376449659 |
564 | E>K | No |
ClinGen TOPMed |
|
|
rs770140321 CA5463071 |
565 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1332214409 CA376449634 |
565 | I>V | No |
ClinGen gnomAD |
|
|
rs1233686353 CA376449551 |
571 | N>Y | No |
ClinGen gnomAD |
|
|
COSM4868710 COSM917757 |
573 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376459690 rs1259475939 CA376459689 |
576 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs761442393 CA205418082 |
580 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5463047 rs761442393 |
580 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs778648656 CA5463044 |
582 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5463046 rs201746852 |
582 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201746852 CA5463045 |
582 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5463043 rs770743974 |
583 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302729173 CA376459631 |
585 | E>D | No |
ClinGen gnomAD |
|
|
rs1235384570 CA376459630 |
586 | E>K | No |
ClinGen gnomAD |
|
|
rs372826143 CA5463042 |
587 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1300170658 CA376459605 |
589 | V>A | No |
ClinGen TOPMed |
|
|
rs567284448 CA5463040 |
594 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1386078823 CA376459570 |
595 | S>R | No |
ClinGen gnomAD |
|
|
rs1460303361 CA376459550 |
597 | M>T | No |
ClinGen gnomAD |
|
|
rs752148160 CA5463039 |
600 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376459518 rs1173708098 |
602 | K>Q | No |
ClinGen gnomAD |
|
|
rs1436261690 CA376459507 |
603 | T>I | No |
ClinGen gnomAD |
|
|
CA5463037 rs758805436 |
607 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1428925585 CA376459479 |
607 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs890600509 CA205418080 |
608 | C>W | No |
ClinGen TOPMed |
|
|
rs1265361885 CA376459457 |
610 | Q>R | No |
ClinGen TOPMed |
|
|
COSM4013830 COSM4013829 |
612 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376459445 rs1185770860 |
612 | E>Q | No |
ClinGen gnomAD |
|
|
rs765654068 CA5463034 |
618 | S>R | No |
ClinGen ExAC gnomAD |
|
| rs777526028 | 622 | M>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM917756 COSM4871381 |
622 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1347615 COSM4333643 |
622 | M>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA5463032 rs762288205 |
623 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564464131 CA376459351 |
624 | E>G | No |
ClinGen Ensembl |
|
|
CA376459355 rs1435193425 |
624 | E>K | No |
ClinGen TOPMed |
|
|
CA5463031 rs754054534 |
625 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1420801636 CA376459296 |
632 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs775417688 CA5463028 |
632 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5463026 rs759351320 |
634 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA376459275 COSM168792 rs1355369363 |
635 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM3414986 COSM3414985 CA5463025 rs369345488 |
635 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA376459257 rs1415684622 |
638 | Q>E | No |
ClinGen gnomAD |
|
|
rs770656156 CA5463024 |
638 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1564463937 CA376459236 |
639 | H>R | No |
ClinGen Ensembl |
|
|
CA376459240 rs1380824559 |
639 | H>Y | No |
ClinGen TOPMed |
|
|
CA205418022 rs758104717 |
641 | A>G | No |
ClinGen Ensembl |
|
|
CA376459212 rs1198726770 |
642 | K>N | No |
ClinGen gnomAD |
|
|
rs1308953922 CA376459210 |
643 | I>V | No |
ClinGen gnomAD |
|
|
rs772864827 CA5463002 |
646 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA376459181 rs1592440710 |
647 | T>S | No |
ClinGen Ensembl |
|
|
CA5463001 rs769666829 |
648 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376459096 rs1274166802 |
659 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776366701 CA5462999 |
663 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs74782671 CA205418021 |
665 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs74782671 CA5462997 |
665 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA205418019 rs375129988 |
666 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs1394990825 CA376459024 |
667 | L>F | No |
ClinGen gnomAD |
|
|
rs1310526056 CA376459002 |
668 | S>R | No |
ClinGen TOPMed |
|
|
rs757825779 CA5462995 |
670 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA205418018 rs757825779 |
670 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 673 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4696173 CA205418017 COSM4696174 rs929450685 |
675 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
CA376458927 rs1159006746 |
675 | R>Q | No |
ClinGen gnomAD |
|
|
CA5462992 rs777961523 |
677 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1379718194 CA376458907 |
677 | Q>R | No |
ClinGen TOPMed |
|
|
CA5462975 rs771747195 |
679 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1233547679 CA376458763 |
681 | H>Q | No |
ClinGen TOPMed |
|
|
CA5462974 rs367556975 |
683 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376458743 rs367556975 |
683 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376458715 rs1277641340 |
685 | K>E | No |
ClinGen gnomAD |
|
|
rs1347887433 CA376458685 |
687 | H>R | No |
ClinGen gnomAD |
|
|
CA5462973 rs375027706 |
687 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5462972 rs769987690 |
689 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA5462971 rs748543891 |
690 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5462970 rs144815552 |
690 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755174683 CA5462969 |
692 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA376458611 rs1251139668 |
693 | T>A | No |
ClinGen TOPMed |
|
|
CA376458604 rs1312132919 |
693 | T>I | No |
ClinGen gnomAD |
|
|
CA5462968 rs751823775 |
694 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs187922025 CA5462966 |
696 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780065320 CA5462967 |
696 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA376458500 rs1479988527 |
699 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs550861207 CA205417862 |
702 | E>* | No |
ClinGen 1000Genomes |
|
| TCGA novel | 702 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA205417860 rs183385693 |
703 | Q>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA376458465 rs1467010566 |
704 | Q>H | No |
ClinGen gnomAD |
|
|
rs936601584 CA205417855 |
706 | Q>* | No |
ClinGen Ensembl |
|
|
rs1222298158 CA376458454 |
706 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 710 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 710 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753758298 CA376458416 |
711 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753758298 CA5462943 |
711 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568701642 CA5462940 |
713 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1310599866 CA376458377 |
716 | I>M | No |
ClinGen gnomAD |
|
|
CA376458371 rs1449247990 |
717 | S>N | No |
ClinGen gnomAD |
|
|
CA5462938 rs759170902 |
719 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1225574591 CA376458342 |
721 | D>V | No |
ClinGen gnomAD |
|
|
COSM3437317 COSM3437316 |
722 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1190238646 CA376458328 |
723 | V>A | No |
ClinGen TOPMed |
|
|
CA5462937 rs773891861 |
723 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM684479 COSM4863207 |
728 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1564463569 CA376458279 |
730 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA205417828 rs972811968 |
731 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1050253038 CA205417825 |
732 | D>H | No |
ClinGen gnomAD |
|
|
rs762346060 CA5462935 |
733 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762346060 CA376458265 |
733 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA376458258 rs1380357968 |
734 | Q>* | No |
ClinGen gnomAD |
|
|
CA376458248 rs1428181141 |
735 | D>G | No |
ClinGen TOPMed |
|
|
CA5462909 rs146000651 |
736 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5462908 rs770977832 |
738 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1393969374 CA376458201 |
740 | M>V | No |
ClinGen TOPMed |
|
|
CA205417473 rs950265557 |
741 | M>I | No |
ClinGen gnomAD |
|
|
CA376458189 rs1293879224 |
741 | M>R | No |
ClinGen gnomAD |
|
|
rs749376230 CA5462907 |
742 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5462906 rs763542551 |
745 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5462905 rs756101109 |
746 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202074899 CA5462904 |
746 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760635450 CA205417459 |
748 | R>T | No |
ClinGen Ensembl |
|
|
rs369654017 CA5462901 |
750 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5462902 rs369654017 |
750 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5462900 rs779573959 |
751 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA376458108 rs1185648139 |
753 | K>N | No |
ClinGen gnomAD |
|
|
COSM4834233 COSM4834232 |
754 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA5462899 rs749918352 |
754 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255524480 CA376458089 |
756 | A>G | No |
ClinGen gnomAD |
|
|
rs375558906 CA5462895 |
758 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761138140 CA5462897 |
758 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761138140 CA5462896 |
758 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5462894 rs767874076 |
759 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5462893 rs774844387 |
762 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5462891 rs199670106 |
766 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1280672687 CA376458009 |
768 | L>F | No |
ClinGen gnomAD |
|
|
CA5462890 rs200339436 |
769 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1404491644 CA376457774 |
770 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 772 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376457749 rs1164881802 |
773 | D>G | No |
ClinGen gnomAD |
|
|
CA5462864 rs761993870 |
773 | D>N | No |
ClinGen ExAC gnomAD |
|
| COSM917755 | 775 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376457738 rs1378525340 |
775 | R>G | No |
ClinGen gnomAD |
|
|
CA5462862 COSM3414983 rs201506716 COSM3414984 |
775 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA205417008 rs111928521 |
777 | Q>R | No |
ClinGen Ensembl |
|
|
rs1221497048 CA376457715 |
778 | A>G | No |
ClinGen TOPMed |
|
|
COSM4867049 COSM917754 |
778 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1192160119 CA376457689 |
782 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1451354336 CA376457679 |
783 | K>R | No |
ClinGen gnomAD |
|
|
CA5462861 rs746975506 |
786 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1488519369 CA376457649 |
787 | E>D | No |
ClinGen TOPMed |
|
|
COSM4949128 COSM177805 |
792 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs762188020 CA5462843 |
793 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA376457584 rs1277770389 |
795 | T>S | No |
ClinGen gnomAD |
|
|
CA5462842 rs776554791 |
797 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA376457575 rs776554791 |
797 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs764277126 CA5462841 |
798 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1955258 COSM4177478 |
800 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs775521250 CA5462839 |
800 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5462838 rs771796806 |
806 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 808 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376457496 rs1298661629 |
809 | T>A | No |
ClinGen gnomAD |
|
|
CA205416941 rs753445583 |
810 | R>G | No |
ClinGen gnomAD |
|
|
rs1045121158 CA205416939 |
811 | V>G | No |
ClinGen Ensembl |
|
|
rs1362515799 CA376457484 |
811 | V>L | No |
ClinGen gnomAD |
|
|
rs745667212 CA5462837 |
812 | K>R | No |
ClinGen ExAC gnomAD |
|
| COSM1492247 | 813 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA205416865 rs867358456 |
815 | A>V | No |
ClinGen Ensembl |
|
|
CA5462815 rs774100037 |
816 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs770741818 CA5462814 |
816 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5462812 rs772928299 |
817 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA5462813 rs772928299 |
817 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs145360044 CA376457417 |
819 | S>C | No |
ClinGen ESP TOPMed |
|
|
CA205416852 rs145360044 |
819 | S>F | No |
ClinGen ESP TOPMed |
|
|
rs1200515668 CA376457396 |
822 | T>S | No |
ClinGen gnomAD |
|
|
rs1364971107 CA376457391 |
823 | G>E | No |
ClinGen TOPMed |
|
|
rs1311840826 CA376457394 |
823 | G>R | No |
ClinGen gnomAD |
|
|
rs1218292480 CA376457388 |
824 | G>S | No |
ClinGen TOPMed |
|
|
rs780910966 CA5462809 |
825 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376709851 CA376457375 |
826 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 828 | Q>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376457335 rs1373280854 |
831 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA376457320 rs1465308382 |
833 | S>F | No |
ClinGen TOPMed |
|
|
rs746419991 CA5462807 |
833 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376457285 rs1348649183 |
838 | N>S | No |
ClinGen gnomAD |
|
|
rs755519238 CA205416835 |
840 | E>Q | No |
ClinGen Ensembl |
|
|
CA376457267 rs1405495680 |
841 | Q>E | No |
ClinGen gnomAD |
|
|
CA5462805 rs757665274 |
841 | Q>R | No |
ClinGen ExAC |
|
| TCGA novel | 851 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4013828 rs200746362 COSM4013827 CA5462790 |
851 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs1407012512 CA376457179 |
852 | D>Y | No |
ClinGen TOPMed |
|
|
CA5462789 rs746329885 COSM161991 |
855 | D>N | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5462788 rs779577244 |
857 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1213138447 CA376457138 |
858 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs749660381 CA5462786 |
860 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA5462783 rs150818260 |
866 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM917753 COSM4871208 |
866 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1212486 COSM4439761 |
868 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA376457030 rs1410872384 |
868 | R>Q | No |
ClinGen TOPMed |
|
|
CA5462782 rs377196810 |
871 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM4013825 COSM4013826 |
875 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA5462779 rs766332268 |
876 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376456884 rs1241937931 |
878 | E>Q | No |
ClinGen TOPMed |
|
|
CA5462777 rs750214006 |
880 | A>T | No |
ClinGen ExAC |
|
|
rs1564462279 CA376456835 |
881 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 883 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5462776 rs764985083 |
884 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761519908 CA5462775 |
885 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM917752 COSM4875647 |
886 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs964545969 CA205416595 |
886 | E>A | No |
ClinGen TOPMed |
|
|
CA5462774 rs776449498 |
889 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5462772 rs760268366 COSM185613 |
890 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs547388371 CA5462771 |
890 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5462770 rs547388371 |
890 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773585260 CA5462768 COSM185612 |
892 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1177616671 CA376456700 |
892 | R>H | No |
ClinGen TOPMed |
|
|
CA205416577 rs992235645 |
893 | K>E | No |
ClinGen Ensembl |
|
|
rs141491660 CA5462767 COSM1560803 COSM4946167 |
894 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA205416571 rs1031402203 |
894 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA376456619 rs1296531625 |
897 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA376456593 rs1234461772 |
898 | E>D | No |
ClinGen gnomAD |
|
|
rs755716349 CA5462765 |
901 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM4873096 rs1426703960 CA376456563 COSM917751 |
901 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
CA5462766 rs755716349 |
901 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903863790 CA205416564 |
902 | I>R | No |
ClinGen Ensembl |
|
|
rs1166918327 CA376456481 |
906 | V>G | No |
ClinGen TOPMed |
|
|
rs148741299 CA5462763 |
908 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1300302778 CA376456465 |
908 | S>T | No |
ClinGen TOPMed |
|
|
rs780042723 CA5462759 |
909 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA5462758 rs758329459 |
914 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1303024720 CA376456339 |
915 | G>W | No |
ClinGen gnomAD |
|
|
CA205416539 rs200775134 |
916 | H>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200775134 COSM3397093 COSM3397094 CA205416537 |
916 | H>R | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA376456311 rs1314133061 |
917 | S>T | No |
ClinGen TOPMed |
|
|
COSM3807067 COSM3807066 |
919 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 920 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5462740 rs144552798 |
924 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5462739 rs758433680 |
925 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367929999 CA376456111 |
925 | R>H | No |
ClinGen gnomAD |
|
|
CA5462736 rs757332683 |
927 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA205416060 rs757332683 |
927 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013381334 CA205416055 |
929 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764031233 CA5462734 |
930 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA376456025 rs1208557122 |
933 | S>A | No |
ClinGen gnomAD |
|
|
CA205416048 rs895903322 |
935 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5462733 rs755787052 |
936 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750217497 CA5462731 |
938 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222214301 CA376455952 |
939 | A>P | No |
ClinGen TOPMed |
|
|
rs1351058011 CA376455943 |
939 | A>V | No |
ClinGen gnomAD |
|
|
CA5462730 rs758972432 |
940 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138770073 CA5462728 |
941 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376455921 rs1194314131 |
941 | R>H | No |
ClinGen gnomAD |
|
|
CA5462729 rs138770073 |
941 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376455908 rs762352722 CA5462727 |
943 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA376455898 rs1321545237 |
944 | G>S | No |
ClinGen gnomAD |
|
|
CA5462726 rs533600588 |
944 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5462725 rs769044593 |
946 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1470275 COSM4876791 |
947 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA5462724 rs760906686 |
950 | S>N | No |
ClinGen ExAC |
|
|
CA376455830 rs1426559369 |
950 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA376455820 rs1263623575 |
951 | Q>P | No |
ClinGen TOPMed |
|
|
rs775591282 CA5462723 |
952 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA376455810 rs1478704040 |
953 | V>L | No |
ClinGen TOPMed |
|
|
rs1029111777 CA205416016 |
955 | V>G | No |
ClinGen Ensembl |
|
|
rs772124743 CA5462722 |
955 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4177468 CA5462721 COSM1955247 rs201380973 |
956 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1234929724 CA376455793 |
956 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779191916 CA5462720 |
959 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA376455757 rs779191916 |
959 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1268585839 CA376455728 |
961 | K>N | No |
ClinGen gnomAD |
|
|
COSM1347614 COSM4786673 |
962 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1224110109 CA376455726 |
962 | Q>K | No |
ClinGen gnomAD |
|
|
rs1486993455 CA376455719 |
962 | Q>R | No |
ClinGen gnomAD |
No associated diseases with P33176
No regional properties for P33176
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P33176 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR47968 | CENTROMERE PROTEIN E |
| PANTHER Subfamily | PTHR47968:SF57 | KINESIN FAMILY MEMBER 5C |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon cytoplasm | Any cytoplasm that is part of a axon. |
| centriolar satellite | A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome. |
| ciliary rootlet | A cytoskeleton-like structure, originating from the basal body at the proximal end of a cilium, and extending proximally toward the cell nucleus. Rootlets are typically 80-100 nm in diameter and contain cross striae distributed at regular intervals of approximately 55-70 nm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite cytoplasm | All of the contents of a dendrite, excluding the surrounding plasma membrane. |
| kinesin complex | Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| phagocytic vesicle | A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| identical protein binding | Binding to an identical protein or proteins. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| microtubule motor activity | A motor activity that generates movement along a microtubule, driven by ATP hydrolysis. |
| plus-end-directed microtubule motor activity | A motor activity that generates movement along a microtubule toward the plus end, driven by ATP hydrolysis. |
| protein-containing complex binding | Binding to a macromolecular complex. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| anterograde axonal protein transport | The directed movement of proteins along microtubules from the cell body toward the cell periphery in nerve cell axons. |
| anterograde dendritic transport of neurotransmitter receptor complex | The directed movement of a neurotransmitter receptor complex along microtubules in nerve cell dendrites towards the postsynapse. |
| anterograde neuronal dense core vesicle transport | The directed movement of substances in neuronal dense core vesicles along axonal microtubules towards the presynapse. |
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| cellular response to type II interferon | 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 an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| centrosome localization | Any process in which a centrosome is transported to, and/or maintained in, a specific location within the cell. |
| cytoplasm organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the cytoplasm. The cytoplasm is all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| lysosome localization | Any process in which a lysosome is transported to, and/or maintained in, a specific location. |
| microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
| mitochondrion transport along microtubule | The directed movement of a mitochondrion along a microtubule, mediated by motor proteins. |
| mitocytosis | A migrasome-mediated selective removal of damaged mitochondria process that maintains mitochondrion homeostasis in migrating cells. |
| natural killer cell mediated cytotoxicity | The directed killing of a target cell by a natural killer cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. |
| plus-end-directed vesicle transport along microtubule | The directed movement of a vesicle towards the plus end of a microtubule, mediated by motor proteins. This process begins with the attachment of a vesicle to a microtubule, and ends when the vesicle reaches its final destination. |
| positive regulation of potassium ion transport | Any process that activates or increases the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of protein localization to plasma membrane | Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane. |
| positive regulation of synaptic transmission, GABAergic | Any process that activates, maintains or increases the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| retrograde neuronal dense core vesicle transport | The directed movement of neuronal dense core vesicles along axonal microtubules towards the cell body. |
| stress granule disassembly | The disaggregation of a stress granule into its constituent protein and RNA parts. |
| synaptic vesicle transport | The directed movement of synaptic vesicles. |
| vesicle transport along microtubule | The directed movement of a vesicle along a microtubule, mediated by motor proteins. This process begins with the attachment of a vesicle to a microtubule, and ends when the vesicle reaches its final destination. |
19 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P17210 | Khc | Kinesin heavy chain | Drosophila melanogaster (Fruit fly) | EV |
| Q12840 | KIF5A | Kinesin heavy chain isoform 5A | Homo sapiens (Human) | EV |
| O43896 | KIF1C | Kinesin-like protein KIF1C | Homo sapiens (Human) | SS |
| Q2M1P5 | KIF7 | Kinesin-like protein KIF7 | Homo sapiens (Human) | EV |
| O60282 | KIF5C | Kinesin heavy chain isoform 5C | Homo sapiens (Human) | EV |
| Q86VH2 | KIF27 | Kinesin-like protein KIF27 | Homo sapiens (Human) | SS |
| Q7Z4S6 | KIF21A | Kinesin-like protein KIF21A | Homo sapiens (Human) | EV |
| O75037 | KIF21B | Kinesin-like protein KIF21B | Homo sapiens (Human) | EV |
| Q9P2E2 | KIF17 | Kinesin-like protein KIF17 | Homo sapiens (Human) | EV |
| O00139 | KIF2A | Kinesin-like protein KIF2A | Homo sapiens (Human) | PR |
| Q9NQT8 | KIF13B | Kinesin-like protein KIF13B | Homo sapiens (Human) | EV |
| Q9H1H9 | KIF13A | Kinesin-like protein KIF13A | Homo sapiens (Human) | SS |
| P33175 | Kif5a | Kinesin heavy chain isoform 5A | Mus musculus (Mouse) | SS |
| P28738 | Kif5c | Kinesin heavy chain isoform 5C | Mus musculus (Mouse) | SS |
| Q61768 | Kif5b | Kinesin-1 heavy chain | Mus musculus (Mouse) | EV |
| Q6QLM7 | Kif5a | Kinesin heavy chain isoform 5A | Rattus norvegicus (Rat) | SS |
| Q2PQA9 | Kif5b | Kinesin-1 heavy chain | Rattus norvegicus (Rat) | SS |
| P34540 | unc-116 | Kinesin heavy chain | Caenorhabditis elegans | SS |
| Q9SV36 | KINUC | Kinesin-like protein KIN-UC | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADLAECNIK | VMCRFRPLNE | SEVNRGDKYI | AKFQGEDTVV | IASKPYAFDR | VFQSSTSQEQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VYNDCAKKIV | KDVLEGYNGT | IFAYGQTSSG | KTHTMEGKLH | DPEGMGIIPR | IVQDIFNYIY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SMDENLEFHI | KVSYFEIYLD | KIRDLLDVSK | TNLSVHEDKN | RVPYVKGCTE | RFVCSPDEVM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DTIDEGKSNR | HVAVTNMNEH | SSRSHSIFLI | NVKQENTQTE | QKLSGKLYLV | DLAGSEKVSK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TGAEGAVLDE | AKNINKSLSA | LGNVISALAE | GSTYVPYRDS | KMTRILQDSL | GGNCRTTIVI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CCSPSSYNES | ETKSTLLFGQ | RAKTIKNTVC | VNVELTAEQW | KKKYEKEKEK | NKILRNTIQW |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LENELNRWRN | GETVPIDEQF | DKEKANLEAF | TVDKDITLTN | DKPATAIGVI | GNFTDAERRK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CEEEIAKLYK | QLDDKDEEIN | QQSQLVEKLK | TQMLDQEELL | ASTRRDQDNM | QAELNRLQAE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NDASKEEVKE | VLQALEELAV | NYDQKSQEVE | DKTKEYELLS | DELNQKSATL | ASIDAELQKL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KEMTNHQKKR | AAEMMASLLK | DLAEIGIAVG | NNDVKQPEGT | GMIDEEFTVA | RLYISKMKSE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VKTMVKRCKQ | LESTQTESNK | KMEENEKELA | ACQLRISQHE | AKIKSLTEYL | QNVEQKKRQL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EESVDALSEE | LVQLRAQEKV | HEMEKEHLNK | VQTANEVKQA | VEQQIQSHRE | THQKQISSLR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DEVEAKAKLI | TDLQDQNQKM | MLEQERLRVE | HEKLKATDQE | KSRKLHELTV | MQDRREQARQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DLKGLEETVA | KELQTLHNLR | KLFVQDLATR | VKKSAEIDSD | DTGGSAAQKQ | KISFLENNLE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QLTKVHKQLV | RDNADLRCEL | PKLEKRLRAT | AERVKALESA | LKEAKENASR | DRKRYQQEVD |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RIKEAVRSKN | MARRGHSAQI | AKPIRPGQHP | AASPTHPSAI | RGGGAFVQNS | QPVAVRGGGG |
| KQV |