O60563
Gene name |
CCNT1 |
Protein name |
Cyclin-T1 |
Names |
CycT1, Cyclin-T |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:904 |
EC number |
|
Protein Class |
CYCLIN (PTHR10026) |

Descriptions
Cyclin-T1 (CycT1) combines with cyclin-dependent kinase (Cdk9) and this complex is called positive transcription elongation factor B (P-TEFb). An intramolecular interaction between the N- and C-terminal regions of cyclin T1 sterically masks the TAR-binding surface, thereby blocking the P-TEFb?TAR interaction. Binding of Tat-SF1 to the CycT1 C-terminal region disrupts the intramolecular interaction in CycT1, stabilizes the P-TEFb-Tat-TAR complex, and stimulates HIV-1 transcription. The efficient interaction between P-TEFb and TAR RNA requires suppression of the autoinhibitory activity of the CycT1 C-terminal region.
Autoinhibitory domains (AIDs)
Target domain |
1-333 (N-terminal cyclin box) |
Relief mechanism |
PTM, Partner binding |
Assay |
Deletion assay, Split protein assay |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

30 structures for O60563
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2PK2 | X-ray | 267 A | A/B/C/D | 1-281 | PDB |
3BLH | X-ray | 248 A | B | 2-259 | PDB |
3BLQ | X-ray | 290 A | B | 2-259 | PDB |
3BLR | X-ray | 280 A | B | 2-259 | PDB |
3LQ5 | X-ray | 300 A | B | 2-259 | PDB |
3MI9 | X-ray | 210 A | B | 1-266 | PDB |
3MIA | X-ray | 300 A | B | 1-266 | PDB |
3MY1 | X-ray | 280 A | B | 2-259 | PDB |
3TN8 | X-ray | 295 A | B | 2-259 | PDB |
3TNH | X-ray | 320 A | B | 1-259 | PDB |
3TNI | X-ray | 323 A | B | 1-259 | PDB |
4BCF | X-ray | 301 A | B | 2-259 | PDB |
4BCG | X-ray | 308 A | B | 2-259 | PDB |
4BCH | X-ray | 296 A | B | 2-259 | PDB |
4BCI | X-ray | 310 A | B | 2-259 | PDB |
4BCJ | X-ray | 316 A | B | 2-259 | PDB |
4EC8 | X-ray | 360 A | B | 2-259 | PDB |
4EC9 | X-ray | 321 A | B | 2-259 | PDB |
4IMY | X-ray | 294 A | B/D/F | 1-264 | PDB |
4OGR | X-ray | 300 A | B/F/K | 1-264 | PDB |
4OR5 | X-ray | 290 A | B/G | 1-266 | PDB |
5L1Z | X-ray | 590 A | B | 1-264 | PDB |
6CYT | X-ray | 350 A | B | 1-264 | PDB |
6GZH | X-ray | 317 A | B | 1-726 | PDB |
6W9E | X-ray | 310 A | B | 1-259 | PDB |
6Z45 | X-ray | 337 A | B | 2-259 | PDB |
7NWK | X-ray | 281 A | B | 2-259 | PDB |
8I0L | X-ray | 360 A | B | 2-259 | PDB |
8K5R | X-ray | 375 A | B | 1-259 | PDB |
AF-O60563-F1 | Predicted | AlphaFoldDB |
501 variants for O60563
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1333067678 CA384561063 |
2 | E>Q | No |
ClinGen TOPMed |
|
rs140731025 CA6540555 |
3 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA236551043 rs1034105324 |
8 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA6540554 rs752408077 |
9 | N>D | No |
ClinGen ExAC gnomAD |
|
CA6540553 rs759127329 |
9 | N>K | No |
ClinGen ExAC gnomAD |
|
CA384560986 rs1258385672 |
10 | K>R | No |
ClinGen gnomAD |
|
rs1366647254 CA384560982 |
11 | R>W | No |
ClinGen gnomAD |
|
rs1317413593 CA384560961 |
13 | Y>* | No |
ClinGen gnomAD |
|
rs1309144383 CA384560948 |
15 | T>I | No |
ClinGen gnomAD |
|
rs888184488 CA236550997 COSM939852 |
16 | R>G | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs775983716 CA6540550 |
16 | R>L | No |
ClinGen ExAC gnomAD |
|
CA384560942 rs1592129164 |
17 | E>Q | No |
ClinGen Ensembl |
|
rs367772894 CA236550996 |
20 | E>K | No |
ClinGen ESP TOPMed |
|
CA6540548 rs761203758 |
21 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772443903 CA6540546 |
22 | S>C | No |
ClinGen ExAC gnomAD |
|
CA384560900 rs1347446179 |
23 | P>A | No |
ClinGen gnomAD |
|
CA6540545 rs748495328 |
23 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384560891 rs1454228200 |
24 | S>F | No |
ClinGen gnomAD |
|
rs1396032569 CA384560889 |
25 | R>G | No |
ClinGen gnomAD |
|
CA6540544 rs748920111 |
26 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1434524438 CA384560874 |
27 | F>C | No |
ClinGen gnomAD |
|
rs749432480 CA6540542 |
28 | G>D | No |
ClinGen ExAC gnomAD |
|
CA6540540 rs756221706 |
33 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1050544434 CA236550947 |
36 | S>F | No |
ClinGen TOPMed |
|
rs201190553 CA6540539 |
36 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1050544434 CA384560815 |
36 | S>Y | No |
ClinGen TOPMed |
|
CA384560788 rs1461235766 |
40 | Q>R | No |
ClinGen gnomAD |
|
CA384560783 rs1352557305 |
41 | A>T | No |
ClinGen gnomAD |
|
CA6540536 rs752403698 |
41 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384560773 rs1565623307 |
42 | A>V | No |
ClinGen Ensembl |
|
CA6540535 rs377260056 |
44 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA384560757 rs1311176749 |
45 | L>H | No |
ClinGen gnomAD |
|
CA384560745 rs1414513730 |
47 | D>N | No |
ClinGen TOPMed |
|
rs1285350063 CA384560710 |
51 | R>L | No |
ClinGen TOPMed |
|
CA6540507 rs752068684 |
59 | I>N | No |
ClinGen ExAC gnomAD |
|
rs1449551198 CA384560624 |
62 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA6540505 rs763320555 |
65 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA384560582 rs1460597404 |
68 | R>* | No |
ClinGen gnomAD |
|
CA384560560 rs1592128183 |
71 | M>L | No |
ClinGen Ensembl |
|
rs147254693 CA6540503 |
71 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1468518208 CA384560546 |
73 | Q>E | No |
ClinGen gnomAD |
|
rs759737668 CA6540502 |
76 | T>K | No |
ClinGen ExAC gnomAD |
|
CA384560518 rs1458970792 |
77 | Q>* | No |
ClinGen gnomAD |
|
rs372888067 CA6540499 |
79 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6540498 rs778849849 |
80 | G>R | No |
ClinGen ExAC gnomAD |
|
rs747920750 CA384574966 |
82 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747920750 CA6540478 |
82 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384574961 rs1373600090 |
83 | V>L | No |
ClinGen gnomAD |
|
CA384574962 rs1373600090 |
83 | V>M | No |
ClinGen gnomAD |
|
rs768603622 CA6540477 |
85 | P>S | No |
ClinGen ExAC gnomAD |
|
rs749134252 CA384574944 |
86 | A>S | No |
ClinGen ExAC gnomAD |
|
rs749134252 CA6540476 |
86 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1565619651 CA384574940 |
87 | A>T | No |
ClinGen Ensembl |
|
CA384574914 rs1475224352 |
91 | A>T | No |
ClinGen gnomAD |
|
rs1592123873 CA384574885 |
95 | E>G | No |
ClinGen Ensembl |
|
CA236595907 rs537062191 |
99 | K>Q | No |
ClinGen 1000Genomes |
|
rs1242723825 CA384574856 |
99 | K>R | No |
ClinGen gnomAD |
|
CA384574815 rs1592123847 |
104 | V>G | No |
ClinGen Ensembl |
|
rs1257517961 CA384574783 |
109 | H>R | No |
ClinGen gnomAD |
|
rs1212031552 CA384574722 |
118 | L>V | No |
ClinGen gnomAD |
|
CA384574711 rs1363927399 |
120 | D>N | No |
ClinGen TOPMed |
|
CA6540473 rs745526148 |
123 | S>R | No |
ClinGen ExAC gnomAD |
|
rs573583934 CA6540449 |
125 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA384574658 rs1393778383 |
125 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs371771671 CA236593775 |
129 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
CA384574625 rs1406478404 |
130 | V>A | No |
ClinGen gnomAD |
|
rs748676352 CA6540447 |
130 | V>I | No |
ClinGen ExAC gnomAD |
|
CA6540448 rs748676352 |
130 | V>L | No |
ClinGen ExAC gnomAD |
|
CA384574606 rs1315523766 |
133 | L>V | No |
ClinGen TOPMed |
|
rs1026391591 CA236593761 |
134 | V>G | No |
ClinGen TOPMed |
|
rs1440638816 CA384574565 |
139 | I>L | No |
ClinGen gnomAD |
|
rs1207102312 CA384574561 |
139 | I>M | No |
ClinGen TOPMed |
|
CA384574559 rs1245312853 |
140 | I>V | No |
ClinGen TOPMed |
|
CA384574548 rs1240416698 |
141 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1192268807 CA384574544 |
142 | Q>* | No |
ClinGen TOPMed |
|
rs754220349 CA6540444 |
144 | L>V | No |
ClinGen ExAC gnomAD |
|
rs766554729 CA6540443 |
145 | G>C | No |
ClinGen ExAC gnomAD |
|
rs1401117279 CA384574480 |
150 | I>F | No |
ClinGen TOPMed gnomAD |
|
CA384574469 rs1363046022 |
151 | D>G | No |
ClinGen gnomAD |
|
CA6540426 rs769259126 |
161 | T>S | No |
ClinGen ExAC gnomAD |
|
CA384574375 rs1176255458 |
165 | R>* | No |
ClinGen gnomAD |
|
rs751739888 CA6540380 |
166 | A>E | No |
ClinGen ExAC gnomAD |
|
CA6540381 rs751739888 |
166 | A>V | No |
ClinGen ExAC gnomAD |
|
rs753870569 CA6540377 |
167 | S>I | No |
ClinGen ExAC gnomAD |
|
rs753870569 CA6540378 |
167 | S>N | No |
ClinGen ExAC gnomAD |
|
rs760556084 CA6540375 |
167 | S>R | No |
ClinGen ExAC |
|
CA6540376 rs760556084 |
167 | S>R | No |
ClinGen ExAC |
|
rs753870569 CA6540379 |
167 | S>T | No |
ClinGen ExAC gnomAD |
|
CA6540373 rs767368303 |
168 | K>N | No |
ClinGen ExAC |
|
CA384574344 rs1390096152 |
169 | D>A | No |
ClinGen gnomAD |
|
CA384574345 rs1204577561 |
169 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs761593293 CA6540372 |
171 | A>E | No |
ClinGen ExAC |
|
rs762359429 CA6540369 |
172 | Q>E | No |
ClinGen ExAC |
|
CA6540368 rs776132474 |
172 | Q>H | No |
ClinGen ExAC |
|
rs762359429 CA6540370 |
172 | Q>K | No |
ClinGen ExAC |
|
rs890612422 CA236590354 |
185 | T>S | No |
ClinGen Ensembl |
|
CA236590336 rs971432244 |
187 | F>L | No |
ClinGen TOPMed |
|
rs1378703148 CA384574177 |
192 | T>P | No |
ClinGen gnomAD |
|
rs1404305116 CA384574169 |
193 | P>S | No |
ClinGen gnomAD |
|
CA384574164 rs1390840609 |
194 | P>A | No |
ClinGen gnomAD |
|
rs1164859991 CA384574159 |
195 | V>L | No |
ClinGen gnomAD |
|
CA6540349 rs762566800 |
198 | C>G | No |
ClinGen ExAC gnomAD |
|
CA384574109 rs1379404126 |
202 | H>R | No |
ClinGen gnomAD |
|
CA384574105 rs991474879 |
203 | L>M | No |
ClinGen TOPMed |
|
rs1331561433 CA384574058 |
209 | N>I | No |
ClinGen TOPMed gnomAD |
|
rs1331561433 CA384574059 |
209 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA384574025 rs1294811954 |
214 | V>I | No |
ClinGen gnomAD |
|
CA6540348 rs774840664 |
215 | S>A | No |
ClinGen ExAC gnomAD |
|
rs1441748192 CA384574008 |
217 | D>N | No |
ClinGen gnomAD |
|
rs201367358 CA6540346 |
218 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540343 rs747368605 |
222 | W>R | No |
ClinGen ExAC gnomAD |
|
CA236590201 rs35965578 |
227 | A>P | No |
ClinGen Ensembl |
|
CA236590200 rs945602816 |
231 | L>V | No |
ClinGen Ensembl |
|
CA6540342 rs773460739 |
232 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs11834413 CA236590166 |
235 | D>N | No |
ClinGen Ensembl |
|
CA384573876 rs1355388992 |
236 | E>K | No |
ClinGen gnomAD |
|
rs147384648 CA6540326 |
241 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1488989697 CA384573751 |
250 | N>K | No |
ClinGen TOPMed |
|
CA384573750 rs1218228262 |
251 | R>G | No |
ClinGen gnomAD |
|
rs1211312549 CA384573663 |
261 | C>G | No |
ClinGen gnomAD |
|
CA6540310 rs758153792 |
262 | E>K | No |
ClinGen ExAC gnomAD |
|
CA6540308 rs778621038 |
263 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1220364569 CA384573636 |
265 | K>R | No |
ClinGen gnomAD |
|
CA6540306 rs753320814 |
266 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs111231208 CA236588756 |
266 | K>R | No |
ClinGen Ensembl |
|
rs765823227 CA6540305 |
267 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384573621 rs765823227 |
267 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1360695604 CA384573616 |
268 | K>R | No |
ClinGen gnomAD |
|
CA384573606 rs1211207675 |
270 | D>N | No |
ClinGen TOPMed |
|
rs575488596 CA384573588 |
272 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs575488596 CA6540304 COSM189930 |
272 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA384573583 rs1465328348 |
273 | G>E | No |
ClinGen gnomAD |
|
rs558154621 CA6540303 |
274 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs201440153 CA384573525 |
281 | Q>H | No |
ClinGen 1000Genomes TOPMed |
|
CA6540302 rs767790293 |
282 | T>A | No |
ClinGen ExAC gnomAD |
|
rs960729876 CA236588683 |
283 | I>V | No |
ClinGen gnomAD |
|
CA6540301 rs566116309 |
285 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA384573498 rs1182795541 |
286 | M>V | No |
ClinGen gnomAD |
|
rs1196326092 CA384573474 |
289 | Q>P | No |
ClinGen gnomAD |
|
CA384573442 rs1243663377 |
293 | D>E | No |
ClinGen Ensembl |
|
rs866673208 CA236588666 |
295 | T>A | No |
ClinGen Ensembl |
|
rs768972559 CA6540299 |
295 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1170942631 CA384573430 |
296 | I>V | No |
ClinGen TOPMed |
|
rs1258106185 CA384573404 |
300 | M>V | No |
ClinGen gnomAD |
|
rs1200052315 CA384573387 |
302 | M>V | No |
ClinGen gnomAD |
|
CA384573373 rs1319836719 |
304 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA6540298 rs140020979 |
305 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA384573359 rs1249980231 |
306 | T>I | No |
ClinGen gnomAD |
|
rs775736756 CA6540297 |
307 | T>I | No |
ClinGen ExAC gnomAD |
|
rs763463430 CA6540296 |
308 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540295 rs538696433 |
308 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs771829615 CA6540293 |
309 | A>T | No |
ClinGen ExAC gnomAD |
|
CA6540292 rs747942854 |
309 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384573338 rs1456508143 |
310 | V>A | No |
ClinGen gnomAD |
|
rs1349388255 CA384573333 |
311 | P>S | No |
ClinGen gnomAD |
|
rs754644478 CA6540291 |
312 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540289 rs748896346 |
312 | S>F | No |
ClinGen ExAC gnomAD |
|
rs754644478 CA6540290 |
312 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540287 rs755560513 |
316 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540285 rs768066318 |
317 | E>K | No |
ClinGen ExAC gnomAD |
|
CA6540284 rs757605829 |
324 | T>S | No |
ClinGen ExAC gnomAD |
|
rs369135021 CA236588488 |
325 | S>R | No |
ClinGen ESP TOPMed |
|
rs1592117644 CA384573241 |
326 | V>M | No |
ClinGen Ensembl |
|
CA6540281 rs763301494 |
328 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540282 rs775724017 |
328 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775724017 CA384573227 |
328 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs923760801 CA236588461 |
330 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA384573210 rs1196798343 |
330 | P>L | No |
ClinGen TOPMed |
|
rs775789988 CA6540280 |
331 | G>V | No |
ClinGen ExAC gnomAD |
|
rs770192921 CA236588455 |
332 | K>E | No |
ClinGen gnomAD |
|
CA384573198 rs1311669376 |
332 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs199856816 CA6540279 |
333 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA6540277 rs374791846 |
333 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374791846 CA6540278 |
333 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1451341729 CA384573176 |
336 | S>F | No |
ClinGen gnomAD |
|
CA384573168 rs1439180408 |
338 | Q>K | No |
ClinGen gnomAD |
|
rs1382557666 CA384573124 |
344 | E>A | No |
ClinGen gnomAD |
|
rs774159319 CA6540274 |
346 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1431115457 CA384573110 |
346 | T>S | No |
ClinGen gnomAD |
|
CA236588407 rs866825070 |
347 | Q>* | No |
ClinGen Ensembl |
|
CA384573096 rs1398081444 |
348 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA6540272 rs748949390 |
349 | H>R | No |
ClinGen ExAC gnomAD |
|
rs969621755 CA236588395 |
349 | H>Y | No |
ClinGen Ensembl |
|
CA6540270 rs755691198 |
350 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs113480935 CA6540271 |
350 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745356084 CA6540269 |
352 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA236588388 rs745574547 |
354 | N>S | No |
ClinGen Ensembl |
|
CA384573048 rs1460893856 |
356 | A>E | No |
ClinGen TOPMed gnomAD |
|
rs781602950 CA6540268 |
356 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1262307161 CA384573044 |
357 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA6540267 rs757806331 |
357 | L>R | No |
ClinGen ExAC gnomAD |
|
rs1452253832 CA384573030 |
359 | G>E | No |
ClinGen TOPMed |
|
CA6540266 rs751970461 |
360 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764560553 CA6540265 |
362 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs17123261 CA384573013 |
362 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_053054 rs17123261 CA6540264 |
362 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA384573016 rs764560553 |
362 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753034435 CA6540263 |
364 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540260 rs776793211 |
367 | D>E | No |
ClinGen ExAC gnomAD |
|
rs759583949 CA6540261 |
367 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384572977 rs1162276567 |
368 | G>S | No |
ClinGen TOPMed |
|
CA384572971 rs1464202890 |
369 | S>P | No |
ClinGen gnomAD |
|
CA384572931 rs1176141227 |
375 | Q>K | No |
ClinGen gnomAD |
|
CA384572928 rs1406576570 |
375 | Q>R | No |
ClinGen TOPMed |
|
CA236588294 rs561375504 |
376 | K>E | No |
ClinGen Ensembl |
|
rs1481099310 CA384572913 |
377 | Q>R | No |
ClinGen gnomAD |
|
rs766325435 CA6540259 |
379 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1192807144 CA384572892 |
380 | K>E | No |
ClinGen gnomAD |
|
rs1249551372 CA384572889 |
380 | K>R | No |
ClinGen gnomAD |
|
CA6540258 rs761810871 |
381 | S>R | No |
ClinGen ExAC gnomAD |
|
rs994102048 CA236588286 |
383 | P>A | No |
ClinGen TOPMed |
|
CA384572861 rs1198582652 |
385 | A>T | No |
ClinGen gnomAD |
|
CA6540256 rs768494518 |
387 | V>M | No |
ClinGen ExAC gnomAD |
|
CA236588268 rs1017044113 |
389 | L>P | No |
ClinGen Ensembl |
|
rs1316101009 CA384572819 |
391 | E>V | No |
ClinGen gnomAD |
|
CA384572815 rs1277668932 |
392 | Y>H | No |
ClinGen gnomAD |
|
rs1592117500 CA384572813 |
392 | Y>S | No |
ClinGen Ensembl |
|
CA6540255 rs749080930 |
393 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540254 rs775166412 |
393 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144628875 CA6540252 |
394 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770280428 CA6540250 |
396 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA384572779 rs1487885855 |
397 | A>V | No |
ClinGen TOPMed |
|
CA6540247 rs61751604 |
399 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA384572692 rs1185341960 |
410 | M>V | No |
ClinGen TOPMed gnomAD |
|
CA6540244 rs755256066 |
416 | S>L | No |
ClinGen ExAC gnomAD |
|
rs201044557 CA6540241 |
418 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6540242 rs201044557 |
418 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1592117455 CA384572593 |
424 | N>D | No |
ClinGen Ensembl |
|
CA384572584 rs1328580715 |
425 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA6540240 rs751567115 |
426 | L>V | No |
ClinGen ExAC gnomAD |
|
CA6540238 rs762789240 |
428 | H>D | No |
ClinGen ExAC gnomAD |
|
CA384572558 rs1299341224 |
429 | H>R | No |
ClinGen TOPMed |
|
rs1419563073 CA384572560 |
429 | H>Y | No |
ClinGen TOPMed |
|
rs891688299 CA236588150 |
430 | D>G | No |
ClinGen gnomAD |
|
CA236588146 rs1053011061 |
431 | S>C | No |
ClinGen TOPMed gnomAD |
|
rs1341257558 CA384572520 |
435 | V>I | No |
ClinGen TOPMed |
|
rs1454229637 CA384572513 |
436 | I>V | No |
ClinGen gnomAD |
|
CA384572487 rs1330071784 |
439 | M>I | No |
ClinGen gnomAD |
|
rs769436332 CA6540236 |
439 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384572477 rs1398012327 |
441 | I>T | No |
ClinGen gnomAD |
|
CA6540235 rs759231919 |
441 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384572466 rs1161348111 |
443 | G>S | No |
ClinGen gnomAD |
|
CA236588115 rs866465000 |
443 | G>V | No |
ClinGen gnomAD |
|
CA384572451 rs1565615485 |
445 | E>G | No |
ClinGen Ensembl |
|
CA384572446 rs1368805215 |
446 | N>D | No |
ClinGen gnomAD |
|
rs776091944 CA6540234 |
447 | P>A | No |
ClinGen ExAC gnomAD |
|
CA384572435 rs1438058803 |
447 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA384572431 rs1482257777 |
448 | E>A | No |
ClinGen TOPMed |
|
rs1179513215 CA384572433 |
448 | E>K | No |
ClinGen gnomAD |
|
rs1179513215 CA384572434 |
448 | E>Q | No |
ClinGen gnomAD |
|
rs778472029 CA384572424 |
449 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540231 rs778472029 |
449 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384572425 rs1199624339 |
449 | R>W | No |
ClinGen TOPMed |
|
CA384572419 rs1265399177 |
450 | P>R | No |
ClinGen gnomAD |
|
CA236588064 rs925606156 |
452 | L>P | No |
ClinGen gnomAD |
|
CA384572400 rs1238517516 |
453 | E>G | No |
ClinGen gnomAD |
|
rs1176401365 CA384572393 |
454 | K>R | No |
ClinGen TOPMed |
|
rs754145543 CA6540226 |
456 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384572373 rs1336962902 |
457 | K>Q | No |
ClinGen gnomAD |
|
rs1159987955 CA384572371 |
457 | K>R | No |
ClinGen TOPMed |
|
CA384572324 rs1366188615 |
464 | I>V | No |
ClinGen gnomAD |
|
rs1304717550 CA384572304 |
467 | A>S | No |
ClinGen gnomAD |
|
rs1403356969 CA384572297 |
468 | G>D | No |
ClinGen TOPMed |
|
CA6540217 rs776385227 |
470 | D>E | No |
ClinGen ExAC gnomAD |
|
CA6540216 rs776385227 |
470 | D>E | No |
ClinGen ExAC gnomAD |
|
rs765093934 CA6540218 |
470 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752564300 CA6540221 |
470 | D>H | No |
ClinGen ExAC gnomAD |
|
CA6540220 rs752564300 |
470 | D>N | No |
ClinGen ExAC gnomAD |
|
CA6540219 rs752564300 |
470 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA6540212 rs771638484 |
472 | A>D | No |
ClinGen ExAC TOPMed |
|
CA6540214 rs772879712 |
472 | A>S | No |
ClinGen ExAC gnomAD |
|
CA6540213 rs772879712 |
472 | A>T | No |
ClinGen ExAC gnomAD |
|
CA236587944 rs771638484 |
472 | A>V | No |
ClinGen ExAC TOPMed |
|
CA6540211 rs201423333 |
473 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201423333 CA6540210 |
473 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756355960 CA6540206 |
478 | E>Q | No |
ClinGen ExAC |
|
rs1363488133 CA384572209 |
482 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA236587904 rs202226049 |
482 | M>K | No |
ClinGen 1000Genomes |
|
CA6540202 rs781254287 |
483 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA236587900 rs757269550 |
483 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540201 rs757269550 |
483 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384572205 rs1304809160 |
484 | I>L | No |
ClinGen gnomAD |
|
CA384572204 rs1304809160 |
484 | I>V | No |
ClinGen gnomAD |
|
rs1398106349 CA384572196 |
485 | K>E | No |
ClinGen gnomAD |
|
rs151213150 CA6540199 |
489 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs558225201 CA236587858 |
490 | A>V | No |
ClinGen Ensembl |
|
CA6540197 rs753595809 |
492 | K>E | No |
ClinGen ExAC gnomAD |
|
CA384572142 rs1480764528 |
493 | H>P | No |
ClinGen gnomAD |
|
rs1431575272 CA384572138 |
493 | H>Q | No |
ClinGen gnomAD |
|
CA6540196 rs766158043 |
494 | N>D | No |
ClinGen ExAC gnomAD |
|
CA384572134 rs1477807046 |
494 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs1471146824 CA384572123 |
496 | V>E | No |
ClinGen TOPMed |
|
CA6540195 rs760407470 |
496 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA236587813 rs760407470 |
496 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1448357643 CA384572118 |
497 | E>* | No |
ClinGen TOPMed gnomAD |
|
CA384572119 rs1448357643 |
497 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA6540194 rs772937692 |
499 | S>G | No |
ClinGen ExAC gnomAD |
|
CA6540193 rs767190434 |
499 | S>I | No |
ClinGen ExAC gnomAD |
|
CA384572101 rs767190434 |
499 | S>N | No |
ClinGen ExAC gnomAD |
|
rs761399979 CA6540192 |
500 | V>F | No |
ClinGen ExAC gnomAD |
|
rs774960495 CA6540191 |
501 | T>I | No |
ClinGen ExAC gnomAD |
|
CA384572083 rs1339807819 |
502 | K>R | No |
ClinGen gnomAD |
|
rs1270552362 CA384572076 |
503 | S>N | No |
ClinGen gnomAD |
|
rs769023522 CA384572071 |
504 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769023522 CA6540190 |
504 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749756750 CA384572069 |
504 | R>L | No |
ClinGen ExAC gnomAD |
|
rs749756750 CA6540189 |
504 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs775752617 CA6540188 |
506 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1408358673 CA384572052 |
507 | K>E | No |
ClinGen gnomAD |
|
CA384572037 rs1386354143 |
509 | K>E | No |
ClinGen TOPMed |
|
rs746103551 CA6540186 |
509 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373807143 CA6540185 |
510 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs757395667 CA6540184 |
511 | K>R | No |
ClinGen ExAC gnomAD |
|
rs889822518 CA236587737 |
512 | T>A | No |
ClinGen TOPMed |
|
CA384572012 rs1237298955 |
512 | T>I | No |
ClinGen gnomAD |
|
rs747030494 CA236587724 |
513 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777859495 CA6540182 |
513 | H>P | No |
ClinGen ExAC gnomAD |
|
rs747030494 CA6540183 |
513 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753742785 CA6540180 |
515 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540178 rs142303037 |
519 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA384571960 rs1349447704 |
520 | H>L | No |
ClinGen gnomAD |
|
rs750164387 CA6540177 |
520 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767245574 CA6540176 |
521 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384571957 rs767245574 |
521 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384571950 rs1429272115 |
522 | N>H | No |
ClinGen TOPMed |
|
CA384571944 rs1283428539 |
522 | N>K | No |
ClinGen gnomAD |
|
CA384571881 rs1446054365 |
531 | S>T | No |
ClinGen gnomAD |
|
rs1173115408 CA384571869 |
532 | Q>H | No |
ClinGen gnomAD |
|
CA384571867 rs1348416388 |
533 | L>I | No |
ClinGen TOPMed |
|
CA384571861 rs1404120757 |
534 | P>A | No |
ClinGen gnomAD |
|
CA6540171 rs763378412 |
534 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759891367 CA6540168 |
535 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770202413 CA6540169 |
535 | V>F | No |
ClinGen ExAC gnomAD |
|
rs376022118 CA236587625 |
537 | T>A | No |
ClinGen ESP gnomAD |
|
CA384571847 rs376022118 |
537 | T>P | No |
ClinGen ESP gnomAD |
|
CA6540166 rs771162889 |
540 | K>R | No |
ClinGen ExAC gnomAD |
|
CA6540165 rs201951577 VAR_069400 |
541 | R>C | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs777718139 CA6540164 |
541 | R>H | No |
ClinGen ExAC gnomAD |
|
CA384571816 rs1246514234 |
542 | P>T | No |
ClinGen gnomAD |
|
rs1565615189 CA384571808 |
543 | G>D | No |
ClinGen Ensembl |
|
rs1361344927 CA384571809 |
543 | G>S | No |
ClinGen gnomAD |
|
CA384571795 rs1239735432 |
545 | P>S | No |
ClinGen gnomAD |
|
CA236587598 rs891616597 |
547 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA6540162 rs752671890 |
548 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1300020596 CA384571764 |
549 | S>I | No |
ClinGen gnomAD |
|
CA6540160 rs756010216 |
550 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756010216 CA6540161 |
550 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540158 rs781088360 |
551 | T>A | No |
ClinGen ExAC gnomAD |
|
rs572552049 CA6540157 |
552 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs751161192 CA6540156 |
552 | S>N | No |
ClinGen ExAC gnomAD |
|
rs763529662 CA6540155 |
553 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540154 rs762511698 |
556 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753271104 CA6540153 |
557 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1215092061 CA384571715 |
557 | K>T | No |
ClinGen TOPMed |
|
CA6540152 rs61751603 |
558 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6540151 rs759944560 |
559 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA236587532 rs759944560 |
559 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs777008956 CA6540150 |
560 | S>N | No |
ClinGen ExAC gnomAD |
|
CA6540149 rs143862407 |
560 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs760819965 CA384571688 |
561 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760819965 CA6540148 |
561 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1475938919 CA384571690 |
561 | L>S | No |
ClinGen TOPMed |
|
CA384571680 rs1317135713 |
563 | S>G | No |
ClinGen Ensembl |
|
rs752700019 CA384571669 |
564 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540147 rs752700019 |
564 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384571670 rs752700019 |
564 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA236587506 rs939546736 |
565 | F>L | No |
ClinGen Ensembl |
|
rs1164245033 CA384571656 |
566 | S>F | No |
ClinGen TOPMed |
|
CA384571652 rs1216137507 |
567 | S>F | No |
ClinGen gnomAD |
|
rs1216137507 CA384571650 |
567 | S>Y | No |
ClinGen gnomAD |
|
CA384571644 rs1317788585 |
568 | S>F | No |
ClinGen gnomAD |
|
rs918754389 CA236587488 |
569 | S>G | No |
ClinGen Ensembl |
|
CA236587478 rs754742528 |
569 | S>N | No |
ClinGen Ensembl |
|
rs772107541 CA6540146 |
570 | S>C | No |
ClinGen ExAC gnomAD |
|
CA6540145 rs748225152 |
572 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs61751602 CA6540144 |
572 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA384571610 rs1284416847 |
574 | R>K | No |
ClinGen gnomAD |
|
CA236587456 rs909900930 |
575 | G>E | No |
ClinGen Ensembl |
|
rs745762876 CA6540142 |
576 | P>R | No |
ClinGen ExAC gnomAD |
|
CA6540143 rs61758364 |
576 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs139927295 CA384571592 |
577 | S>C | No |
ClinGen ESP gnomAD |
|
rs139927295 CA236587440 |
577 | S>F | No |
ClinGen ESP gnomAD |
|
rs1298010909 CA384571595 |
577 | S>P | No |
ClinGen gnomAD |
|
CA384571586 rs1565615071 |
578 | E>V | No |
ClinGen Ensembl |
|
rs1445921681 CA384571583 |
579 | E>Q | No |
ClinGen gnomAD |
|
CA236587430 rs965962764 |
581 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs757022710 CA6540140 |
582 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1428024640 CA384571557 |
583 | A>S | No |
ClinGen gnomAD |
|
CA384571551 rs1377926770 |
584 | V>M | No |
ClinGen TOPMed |
|
CA384571543 rs1481406209 |
585 | F>S | No |
ClinGen gnomAD |
|
CA384571535 rs1210197532 |
586 | D>G | No |
ClinGen gnomAD |
|
rs1204406116 CA384571531 |
587 | H>N | No |
ClinGen gnomAD |
|
CA6540137 rs757887677 |
589 | A>G | No |
ClinGen ExAC gnomAD |
|
rs752182045 CA6540136 |
590 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760038677 CA6540134 |
591 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764684605 CA6540135 |
591 | I>V | No |
ClinGen ExAC gnomAD |
|
CA6540133 rs754284307 |
592 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1225854070 CA384571494 |
593 | K>E | No |
ClinGen gnomAD |
|
rs1238869240 CA384571491 |
593 | K>R | No |
ClinGen TOPMed |
|
rs1285904276 CA384571484 |
594 | S>I | No |
ClinGen TOPMed |
|
rs766712057 CA6540132 |
596 | K>I | No |
ClinGen ExAC |
|
CA6540131 rs761091842 |
597 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1448123165 CA384571466 |
597 | S>P | No |
ClinGen TOPMed |
|
rs768792886 CA6540126 |
603 | S>F | No |
ClinGen ExAC gnomAD |
|
CA384571420 rs1404693991 |
604 | F>Y | No |
ClinGen gnomAD |
|
CA384571413 rs1236111564 |
605 | P>S | No |
ClinGen TOPMed |
|
CA384571392 rs1176574446 |
608 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs745817704 CA6540125 |
610 | M>K | No |
ClinGen ExAC gnomAD |
|
rs1184450292 CA384571384 |
610 | M>V | No |
ClinGen TOPMed |
|
rs571449247 CA6540124 |
611 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA236587223 rs751608033 |
612 | Q>E | No |
ClinGen Ensembl |
|
CA384571358 rs770699363 |
613 | M>I | No |
ClinGen ExAC gnomAD |
|
CA6540123 rs770699363 |
613 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1428830457 CA384571352 |
614 | P>L | No |
ClinGen gnomAD |
|
CA6540122 rs199971712 |
616 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6540119 rs747730511 |
618 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1316152397 CA384571313 |
620 | T>R | No |
ClinGen gnomAD |
|
rs1251189662 CA384571308 |
621 | S>N | No |
ClinGen gnomAD |
|
rs754404849 CA6540116 |
623 | L>F | No |
ClinGen ExAC gnomAD |
|
CA384571294 rs1565614946 |
623 | L>P | No |
ClinGen Ensembl |
|
rs766874197 CA6540115 |
624 | S>A | No |
ClinGen ExAC gnomAD |
|
CA384571279 rs1381660505 |
626 | S>T | No |
ClinGen gnomAD |
|
rs1173622086 CA384571254 |
629 | S>I | No |
ClinGen TOPMed |
|
CA6540113 rs750819468 |
630 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384571243 rs1318683935 |
631 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs1397516301 CA384571229 COSM224426 |
633 | R>C | oesophagus skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA6540112 rs767735381 |
633 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384571227 rs767735381 |
633 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540110 rs756415806 |
635 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762133213 CA6540111 |
635 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1444235204 CA384571215 |
636 | H>Y | No |
ClinGen gnomAD |
|
rs149815658 CA6540109 |
637 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149815658 CA6540108 |
637 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs149815658 CA236587127 |
637 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6540106 rs770880033 |
640 | D>G | No |
ClinGen ExAC gnomAD |
|
CA6540105 rs746874868 |
641 | K>E | No |
ClinGen ExAC gnomAD |
|
rs773063080 CA6540104 |
642 | G>R | No |
ClinGen ExAC gnomAD |
|
rs139863721 CA6540103 |
643 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
CA384571159 rs1245785133 |
645 | G>R | No |
ClinGen gnomAD |
|
rs747855198 CA6540102 |
647 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA384571140 rs1565614887 |
648 | G>C | No |
ClinGen Ensembl |
|
rs778528112 CA6540101 |
648 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754521934 CA6540100 |
650 | N>S | No |
ClinGen ExAC gnomAD |
|
rs748773472 CA6540099 |
651 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1592116837 CA384571115 |
652 | T>P | No |
ClinGen Ensembl |
|
rs1398633639 CA384571092 |
655 | I>R | No |
ClinGen TOPMed gnomAD |
|
CA6540096 rs546928425 |
657 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs757684573 CA6540094 |
658 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540093 rs751897992 |
659 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA236587000 rs1013508291 |
660 | T>S | No |
ClinGen TOPMed |
|
CA6540090 rs752847584 |
661 | V>G | No |
ClinGen ExAC gnomAD |
|
rs763177246 CA6540091 |
661 | V>M | No |
ClinGen ExAC gnomAD |
|
rs765193521 CA6540088 |
662 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA236586903 rs895471410 |
663 | M>I | No |
ClinGen Ensembl |
|
rs760672546 CA6540087 |
665 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1592116801 CA384571029 |
665 | H>Y | No |
ClinGen Ensembl |
|
CA236586867 rs150673875 |
666 | S>F | No |
ClinGen ESP |
|
CA384571007 rs1348176415 |
669 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs771917240 CA6540085 |
670 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1054933462 CA236586859 |
671 | Q>* | No |
ClinGen TOPMed |
|
CA384570985 rs1433743728 |
672 | G>D | No |
ClinGen TOPMed |
|
rs561401967 CA6540084 |
672 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs774039295 CA6540083 |
674 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA384570974 rs1281248823 |
674 | Q>R | No |
ClinGen gnomAD |
|
CA6540082 rs768318667 |
677 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA384570948 rs1273555289 |
678 | P>R | No |
ClinGen TOPMed |
|
CA6540080 rs779622632 |
679 | T>A | No |
ClinGen ExAC gnomAD |
|
rs769129728 CA6540079 |
679 | T>S | No |
ClinGen ExAC gnomAD |
|
rs781546103 CA6540077 |
681 | F>S | No |
ClinGen ExAC gnomAD |
|
CA236586761 rs766303563 |
684 | V>A | No |
ClinGen gnomAD |
|
rs1199274008 CA384570905 |
685 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs374924592 CA6540076 |
685 | R>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
CA6540073 rs138497401 |
687 | Y>C | No |
ClinGen ESP ExAC TOPMed |
|
CA6540075 rs778237254 |
687 | Y>D | No |
ClinGen ExAC gnomAD |
|
rs778237254 CA6540074 |
687 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA6540072 rs571399920 |
688 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA6540071 rs145928871 |
690 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1048778191 CA236586705 |
692 | N>H | No |
ClinGen TOPMed gnomAD |
|
CA236586700 rs910151845 |
693 | P>R | No |
ClinGen Ensembl |
|
CA236586688 rs763437613 |
694 | R>P | No |
ClinGen ExAC gnomAD |
|
rs763437613 CA6540068 |
694 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA6540069 rs578225263 |
694 | R>W | No |
ClinGen ExAC gnomAD |
|
rs774161411 CA6540066 |
695 | S>C | No |
ClinGen ExAC gnomAD |
|
COSM3398751 rs374831967 CA6540064 |
700 | S>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs768371674 CA6540065 |
700 | S>P | No |
ClinGen ExAC gnomAD |
|
CA384570816 rs1319169519 |
701 | R>G | No |
ClinGen gnomAD |
|
rs745339049 CA6540061 |
703 | G>S | No |
ClinGen ExAC gnomAD |
|
CA6540060 rs781777925 |
704 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1592116692 CA384570772 |
707 | K>N | No |
ClinGen Ensembl |
|
rs771591632 CA6540059 |
707 | K>R | No |
ClinGen ExAC gnomAD |
|
rs758820620 CA6540056 |
709 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs776054514 CA6540057 |
709 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540055 rs753027417 |
712 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1477256318 CA384570743 |
713 | L>V | No |
ClinGen TOPMed |
|
rs755131101 CA6540053 |
717 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA6540052 rs372868253 |
718 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA384570712 rs1240712357 |
718 | P>S | No |
ClinGen gnomAD |
|
CA384570687 rs1322335040 |
722 | P>L | No |
ClinGen TOPMed |
|
CA6540051 rs368473561 |
722 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA384570683 rs1176610393 |
723 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA6540047 rs762651446 |
727 | K>K | No |
ClinGen ExAC gnomAD |
No associated diseases with O60563
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR10026 | CYCLIN |
PANTHER Subfamily | PTHR10026:SF42 | CYCLIN-T1 |
PANTHER Protein Class | kinase activator | |
PANTHER Pathway Category | No pathway information available |
5 GO annotations of cellular component
Name | Definition |
---|---|
cyclin/CDK positive transcription elongation factor complex | A transcription elongation factor complex that facilitates the transition from abortive to productive elongation by phosphorylating the CTD domain of the large subunit of DNA-directed RNA polymerase II, holoenzyme. Contains a cyclin and a cyclin-dependent protein kinase catalytic subunit. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
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. |
P-TEFb complex | A dimeric positive transcription elongation factor complex b that comprises a cyclin-dependent kinase containing the catalytic subunit, Cdk9, and a regulatory subunit, cyclin T. |
9 GO annotations of molecular function
Name | Definition |
---|---|
7SK snRNA binding | Binding to a 7SK small nuclear RNA (7SK snRNA). |
chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
cyclin-dependent protein serine/threonine kinase activator activity | Binds to and increases the activity of a cyclin-dependent protein serine/threonine kinase. |
cyclin-dependent protein serine/threonine kinase regulator activity | Modulates the activity of a cyclin-dependent protein serine/threonine kinase, enzymes of the protein kinase family that are regulated through association with cyclins and other proteins. |
DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
DNA-binding transcription factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
RNA polymerase binding | Binding to an RNA polymerase molecule or complex. |
transcription cis-regulatory region binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. |
13 GO annotations of biological process
Name | Definition |
---|---|
cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
negative regulation of mRNA polyadenylation | Any process that stops, prevents or reduces the frequency, rate or extent of mRNA polyadenylation. |
phosphorylation of RNA polymerase II C-terminal domain serine 2 residues involved in positive regulation of transcription elongation from RNA polymerase II promoter | Any phosphorylation of RNA polymerase II C-terminal domain serine 2 residues that is involved in positive regulation of transcription elongation from RNA polymerase II promoter. |
phosphorylation of RNA polymerase II C-terminal domain serine 5 residues involved in positive regulation of transcription elongation from RNA polymerase II promoter | Any phosphorylation of RNA polymerase II C-terminal domain serine 5 residues that is involved in positive regulation of transcription elongation from RNA polymerase II promoter. |
positive regulation by host of viral transcription | Any process in which a host organism activates or increases the frequency, rate or extent of viral transcription, the synthesis of either RNA on a template of DNA or DNA on a template of RNA. |
positive regulation of DNA-templated transcription, elongation | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase. |
positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
positive regulation of transcription elongation from RNA polymerase II promoter | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of cyclin-dependent protein serine/threonine kinase activity | Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity. |
regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
14 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q6T8E9 | CCNT1 | Cyclin-T1 | Bos taurus (Bovine) | SS |
Q8HXN7 | CCNT1 | Cyclin-T1 | Pan troglodytes (Chimpanzee) | SS |
Q9XT26 | CCNT1 | Cyclin-T1 | Equus caballus (Horse) | SS |
P24863 | CCNC | Cyclin-C | Homo sapiens (Human) | PR |
P51946 | CCNH | Cyclin-H | Homo sapiens (Human) | PR |
O75909 | CCNK | Cyclin-K | Homo sapiens (Human) | PR |
Q8N1B3 | CCNQ | Cyclin-Q | Homo sapiens (Human) | PR |
O88874 | Ccnk | Cyclin-K | Mus musculus (Mouse) | PR |
Q9QWV9 | Ccnt1 | Cyclin-T1 | Mus musculus (Mouse) | SS |
Q2QQS5 | CYCT1-1 | Cyclin-T1-4 | Oryza sativa subsp japonica (Rice) | PR |
Q6Z7H3 | CYCT1_2 | Cyclin-T1-2 | Oryza sativa subsp japonica (Rice) | PR |
Q2RAC5 | CYCT1-3 | Cyclin-T1-3 | Oryza sativa subsp japonica (Rice) | PR |
Q8GYM6 | CYCT1-4 | Cyclin-T1-4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q503D6 | ccnq | Cyclin-Q | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MEGERKNNNK | RWYFTREQLE | NSPSRRFGVD | PDKELSYRQQ | AANLLQDMGQ | RLNVSQLTIN |
70 | 80 | 90 | 100 | 110 | 120 |
TAIVYMHRFY | MIQSFTQFPG | NSVAPAALFL | AAKVEEQPKK | LEHVIKVAHT | CLHPQESLPD |
130 | 140 | 150 | 160 | 170 | 180 |
TRSEAYLQQV | QDLVILESII | LQTLGFELTI | DHPHTHVVKC | TQLVRASKDL | AQTSYFMATN |
190 | 200 | 210 | 220 | 230 | 240 |
SLHLTTFSLQ | YTPPVVACVC | IHLACKWSNW | EIPVSTDGKH | WWEYVDATVT | LELLDELTHE |
250 | 260 | 270 | 280 | 290 | 300 |
FLQILEKTPN | RLKRIWNWRA | CEAAKKTKAD | DRGTDEKTSE | QTILNMISQS | SSDTTIAGLM |
310 | 320 | 330 | 340 | 350 | 360 |
SMSTSTTSAV | PSLPVSEESS | SNLTSVEMLP | GKRWLSSQPS | FKLEPTQGHR | TSENLALTGV |
370 | 380 | 390 | 400 | 410 | 420 |
DHSLPQDGSN | AFISQKQNSK | SVPSAKVSLK | EYRAKHAEEL | AAQKRQLENM | EANVKSQYAY |
430 | 440 | 450 | 460 | 470 | 480 |
AAQNLLSHHD | SHSSVILKMP | IEGSENPERP | FLEKADKTAL | KMRIPVAGGD | KAASSKPEEI |
490 | 500 | 510 | 520 | 530 | 540 |
KMRIKVHAAA | DKHNSVEDSV | TKSREHKEKH | KTHPSNHHHH | HNHHSHKHSH | SQLPVGTGNK |
550 | 560 | 570 | 580 | 590 | 600 |
RPGDPKHSSQ | TSNLAHKTYS | LSSSFSSSSS | TRKRGPSEET | GGAVFDHPAK | IAKSTKSSSL |
610 | 620 | 630 | 640 | 650 | 660 |
NFSFPSLPTM | GQMPGHSSDT | SGLSFSQPSC | KTRVPHSKLD | KGPTGANGHN | TTQTIDYQDT |
670 | 680 | 690 | 700 | 710 | 720 |
VNMLHSLLSA | QGVQPTQPTA | FEFVRPYSDY | LNPRSGGISS | RSGNTDKPRP | PPLPSEPPPP |
LPPLPK |