Q9UJX5
Gene name |
ANAPC4 (APC4) |
Protein name |
Anaphase-promoting complex subunit 4 |
Names |
APC4, Cyclosome subunit 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:29945 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
20 structures for Q9UJX5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4UI9 | EM | 360 A | I | 1-808 | PDB |
| 5A31 | EM | 430 A | I | 1-808 | PDB |
| 5BPW | X-ray | 340 A | A | 1-808 | PDB |
| 5G04 | EM | 400 A | I | 1-808 | PDB |
| 5G05 | EM | 340 A | I | 1-808 | PDB |
| 5KHR | EM | 610 A | I | 1-808 | PDB |
| 5KHU | EM | 480 A | I | 1-808 | PDB |
| 5L9T | EM | 640 A | I | 1-808 | PDB |
| 5L9U | EM | 640 A | I | 1-808 | PDB |
| 5LCW | EM | 400 A | I | 1-808 | PDB |
| 6Q6G | EM | 320 A | I | 1-808 | PDB |
| 6Q6H | EM | 320 A | I | 1-808 | PDB |
| 6TLJ | EM | 380 A | I | 1-808 | PDB |
| 6TM5 | EM | 390 A | I | 1-808 | PDB |
| 6TNT | EM | 378 A | I | 1-808 | PDB |
| 7QE7 | EM | 290 A | I | 1-808 | PDB |
| 8PKP | EM | 320 A | I | 1-808 | PDB |
| 8TAR | EM | 400 A | I | 1-808 | PDB |
| 8TAU | EM | 350 A | I | 1-808 | PDB |
| AF-Q9UJX5-F1 | Predicted | AlphaFoldDB |
483 variants for Q9UJX5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2878530 rs748685739 |
3 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577363842 CA356561757 |
5 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 5 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447136815 CA356561797 |
7 | C>W | No |
ClinGen gnomAD |
|
|
CA2878531 rs772072500 |
8 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA2878534 rs543616759 |
10 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2878533 rs747148002 |
10 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1454552042 CA356561841 |
12 | R>Q | No |
ClinGen gnomAD |
|
|
CA356561849 rs1577363877 |
13 | V>M | No |
ClinGen Ensembl |
|
|
rs1027340582 CA93646524 |
19 | L>F | No |
ClinGen Ensembl |
|
|
rs374595036 CA93646533 |
21 | Q>E | No |
ClinGen ESP |
|
|
CA356561952 rs1379844841 |
21 | Q>L | No |
ClinGen gnomAD |
|
|
CA356561954 rs1379844841 |
21 | Q>R | No |
ClinGen gnomAD |
|
|
rs774367060 CA2878538 |
22 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1051893863 CA93646540 |
23 | I>V | No |
ClinGen TOPMed |
|
|
rs761858918 CA2878539 |
24 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767625635 CA2878540 |
25 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1215981197 CA356562008 |
25 | F>L | No |
ClinGen gnomAD |
|
|
rs1463126778 CA356562093 |
32 | R>W | No |
ClinGen gnomAD |
|
|
rs1471332002 CA356562141 |
35 | I>T | No |
ClinGen TOPMed |
|
|
rs755691767 CA2878542 |
37 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2878543 rs563308193 |
38 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771587730 CA93646636 |
39 | N>S | No |
ClinGen TOPMed |
|
|
CA2878544 rs529390900 |
40 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1420051565 CA356562205 |
41 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2878545 rs755259219 |
43 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1348230950 CA356562430 |
46 | L>I | No |
ClinGen gnomAD |
|
|
CA2878568 rs754670587 |
47 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA356562444 rs1275075458 |
48 | R>* | No |
ClinGen gnomAD |
|
|
CA356562460 rs1216988496 |
51 | S>G | No |
ClinGen gnomAD |
|
|
CA2878570 rs753054846 |
51 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1020974687 CA93648756 |
54 | R>* | No |
ClinGen Ensembl |
|
|
CA356562485 rs1376848629 |
54 | R>Q | No |
ClinGen TOPMed |
|
|
CA356562519 rs1204859333 |
59 | P>S | No |
ClinGen gnomAD |
|
|
CA356562525 rs1273005048 |
60 | P>S | No |
ClinGen gnomAD |
|
|
rs540483057 CA2878573 COSM587051 |
61 | N>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA93648800 rs890009718 |
64 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781348727 CA2878575 |
66 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2878577 rs770140408 |
69 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs200503614 CA2878576 |
69 | T>P | No |
ClinGen 1000Genomes ExAC |
|
|
rs747934614 CA2878579 |
72 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356562601 rs747934614 |
72 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772985175 COSM3767830 CA2878581 |
75 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1180476805 CA356562651 |
79 | L>F | No |
ClinGen TOPMed |
|
|
CA356562678 rs1187299443 |
81 | A>V | No |
ClinGen gnomAD |
|
|
CA356562692 rs1416243950 |
83 | A>V | No |
ClinGen gnomAD |
|
|
CA356562693 COSM3428446 rs1354497748 |
84 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs374830999 CA93651417 |
85 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2878605 rs776473600 |
87 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201839196 CA93651424 |
88 | K>N | No |
ClinGen Ensembl |
|
|
rs769312617 CA2878607 |
90 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356562753 rs1560429099 |
93 | C>R | No |
ClinGen Ensembl |
|
|
rs575797971 CA2878610 |
95 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA356562769 rs1412317501 |
95 | V>I | No |
ClinGen TOPMed |
|
|
rs13127336 CA93651456 |
100 | S>N | No |
ClinGen Ensembl |
|
|
CA356562819 rs1471695779 |
102 | H>P | No |
ClinGen gnomAD |
|
|
CA356562828 rs147243013 |
103 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2878611 rs147243013 |
103 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356562841 rs1456218604 |
105 | S>C | No |
ClinGen gnomAD |
|
|
CA2878613 rs371805695 |
106 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2878614 rs750916286 |
107 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356562856 rs1397187616 |
108 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356562868 rs1334084689 |
110 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2878615 rs756223606 |
113 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA356562921 rs1289180822 |
114 | H>L | No |
ClinGen gnomAD |
|
|
rs1560429172 CA356562919 |
114 | H>Y | No |
ClinGen Ensembl |
|
|
CA2878616 rs780287319 |
116 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs376010530 CA2878617 |
116 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356562965 rs1347032204 |
117 | E>G | No |
ClinGen gnomAD |
|
|
rs755236879 COSM1054666 CA2878618 |
117 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA356562980 rs1577370386 |
118 | V>G | No |
ClinGen Ensembl |
|
|
rs200778308 CA93627489 |
131 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1577375553 CA356552482 |
135 | S>* | No |
ClinGen Ensembl |
|
|
rs1195667849 CA356552498 |
136 | N>I | No |
ClinGen TOPMed |
|
|
rs767053276 CA2878638 |
138 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs574552618 CA2878639 |
138 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765475845 CA2878641 |
143 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765475845 CA356552566 |
143 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319973982 CA356552598 |
146 | P>L | No |
ClinGen TOPMed |
|
|
CA93627545 rs942648852 |
149 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2878654 rs142209344 |
153 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 155 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_035792 | 155 | I>V | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA2878667 rs779920658 |
159 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA356552945 rs1304521303 |
161 | S>C | No |
ClinGen gnomAD |
|
|
CA356552938 rs1314890906 COSM1054667 |
161 | S>P | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1379989257 CA356552988 |
163 | E>D | No |
ClinGen TOPMed |
|
|
rs1008728942 CA93627600 |
165 | I>S | No |
ClinGen Ensembl |
|
|
CA2878670 rs778301350 |
171 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356553936 rs1312175477 |
174 | N>S | No |
ClinGen gnomAD |
|
|
CA356553982 rs1208447595 |
176 | L>F | No |
ClinGen gnomAD |
|
|
rs752115448 COSM673928 CA2878688 |
177 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA93628199 rs988848095 |
181 | S>R | No |
ClinGen Ensembl |
|
|
CA2878689 rs535218219 |
185 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201642475 CA93628206 |
188 | Y>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA356554283 rs1432586361 |
192 | M>R | No |
ClinGen gnomAD |
|
|
CA356554332 rs1171686476 |
194 | K>N | No |
ClinGen gnomAD |
|
|
rs771350520 CA356554370 |
197 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs771350520 CA2878692 |
197 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2878694 rs377456652 |
197 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2878693 rs377456652 |
197 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs979290652 CA93628225 |
198 | V>L | No |
ClinGen TOPMed |
|
|
rs1359796485 CA356554407 |
200 | G>E | No |
ClinGen gnomAD |
|
|
CA2878696 rs776116087 |
200 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA356554538 rs1348735915 |
201 | I>T | No |
ClinGen gnomAD |
|
|
rs1438109540 CA356554555 |
202 | A>G | No |
ClinGen gnomAD |
|
|
CA356554558 rs1438109540 |
202 | A>V | No |
ClinGen gnomAD |
|
|
CA2878710 rs780962676 |
203 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs746184414 CA2878711 |
204 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2878713 rs780388156 |
209 | C>R | No |
ClinGen ExAC |
|
|
CA356554720 rs1489472145 |
212 | S>R | No |
ClinGen gnomAD |
|
|
CA2878714 rs749809902 |
213 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2878716 rs774402467 COSM1429258 |
220 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA93628502 rs148735249 |
224 | S>C | No |
ClinGen 1000Genomes |
|
|
rs972551396 CA93628505 |
225 | T>I | No |
ClinGen Ensembl |
|
|
rs377096625 CA2878717 |
226 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2878719 rs773529954 |
234 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163429815 CA356554947 |
235 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2878748 rs761368684 |
236 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767060078 CA2878749 |
237 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA93628994 rs367748788 |
241 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1298024035 CA356555033 |
246 | P>S | No |
ClinGen TOPMed |
|
|
CA356555058 rs371711389 |
250 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371711389 CA2878753 COSM1540101 |
250 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1054668 CA2878752 rs766016624 |
250 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1049504668 CA93629007 |
252 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA356555105 rs1322310720 |
257 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2878772 rs765587767 |
266 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2878773 rs753140651 |
268 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2878776 rs377127273 |
271 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356555254 rs1460720264 |
276 | W>* | No |
ClinGen gnomAD |
|
|
rs267600133 CA93629614 |
278 | E>K | No |
ClinGen Ensembl |
|
|
CA2878777 rs757328988 |
283 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA356555313 TCGA novel rs1325119738 |
284 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs1265674693 CA356555320 |
285 | S>C | No |
ClinGen TOPMed |
|
|
rs369536329 CA93629625 |
286 | R>H | No |
ClinGen ESP gnomAD |
|
|
rs1247847863 CA356555330 |
287 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356555327 rs1560435855 |
287 | L>V | No |
ClinGen Ensembl |
|
|
rs781513756 CA2878778 |
289 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325102164 CA356555351 |
290 | F>L | No |
ClinGen gnomAD |
|
|
COSM481184 rs867835372 CA93629634 |
292 | Q>* | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA356555382 rs1217489442 |
293 | E>G | No |
ClinGen TOPMed |
|
|
rs775827422 CA2878794 |
294 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 294 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs920870053 CA93629832 |
295 | N>K | No |
ClinGen gnomAD |
|
|
CA356555409 rs1340750478 |
297 | T>N | No |
ClinGen gnomAD |
|
|
rs371912148 CA2878796 |
300 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777104091 CA93629848 |
301 | Q>* | No |
ClinGen Ensembl |
|
|
CA93629852 rs180856282 |
302 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1485079315 CA356555443 |
303 | E>K | No |
ClinGen gnomAD |
|
|
rs1257103121 CA356555470 |
306 | H>Y | No |
ClinGen gnomAD |
|
|
CA356555481 rs1186076673 |
307 | L>F | No |
ClinGen gnomAD |
|
|
rs965368473 CA93629861 |
309 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1451335119 CA356555499 |
310 | W>* | No |
ClinGen gnomAD |
|
|
CA2878801 rs756401452 |
310 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA356555505 rs1297384175 |
311 | G>E | No |
ClinGen TOPMed |
|
|
rs1304431943 CA356555526 |
314 | S>I | No |
ClinGen gnomAD |
|
|
rs79451053 CA93629981 |
316 | E>K | No |
ClinGen Ensembl |
|
|
rs966049485 CA93629982 |
317 | L>F | No |
ClinGen TOPMed |
|
|
CA356555610 rs1206002425 |
324 | Q>H | No |
ClinGen TOPMed |
|
|
CA356555607 rs1277014882 |
324 | Q>R | No |
ClinGen gnomAD |
|
|
rs374531860 CA2878827 |
327 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356555653 rs1191670003 |
329 | G>V | No |
ClinGen gnomAD |
|
|
CA356555661 rs1338668672 |
331 | K>Q | No |
ClinGen TOPMed |
|
|
rs1475629937 CA356555665 |
331 | K>R | No |
ClinGen gnomAD |
|
|
rs751278190 CA2878850 |
332 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1406580859 CA356555690 |
335 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs757091654 CA2878851 |
339 | S>L | No |
ClinGen ExAC |
|
|
rs773986195 CA93630102 |
342 | S>A | No |
ClinGen TOPMed |
|
|
CA356555738 rs781057647 |
342 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781057647 CA2878852 |
342 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323155650 CA356555749 |
344 | I>L | No |
ClinGen gnomAD |
|
|
rs1323155650 CA356555750 |
344 | I>V | No |
ClinGen gnomAD |
|
|
rs1230888096 CA356555759 |
345 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356555764 rs1327343512 |
346 | K>Q | No |
ClinGen gnomAD |
|
|
CA93630111 rs1046045943 |
346 | K>R | No |
ClinGen TOPMed |
|
|
rs779418488 CA2878855 |
347 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs144625033 CA2878856 |
348 | V>I | No |
ClinGen ESP ExAC |
|
|
rs144625033 CA356555777 |
348 | V>L | No |
ClinGen ESP ExAC |
|
|
CA356555782 rs1233968211 |
349 | I>V | No |
ClinGen gnomAD |
|
|
CA356555800 rs1272551903 |
351 | H>R | No |
ClinGen gnomAD |
|
|
CA356555823 rs1332783729 |
354 | S>I | No |
ClinGen gnomAD |
|
|
CA2878871 rs370638458 |
356 | S>L | Variant assessed as Somatic; 4.673e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754543457 CA356556409 |
357 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2878875 rs754543457 |
357 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs539027600 CA2878874 |
357 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2878876 rs754543457 |
357 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2878878 rs758781711 |
358 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1183426749 CA356556421 |
358 | S>F | No |
ClinGen gnomAD |
|
|
rs778265945 CA2878879 |
359 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA93630976 rs34239612 |
362 | H>R | No |
ClinGen Ensembl |
|
|
CA93630981 rs750225132 |
365 | E>* | No |
ClinGen Ensembl |
|
|
rs777241058 CA2878882 |
366 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs745886178 CA2878883 |
367 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356556555 rs1312465353 |
369 | M>T | No |
ClinGen gnomAD |
|
|
rs769947767 CA2878884 |
371 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA356556588 rs1328433850 |
372 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356556619 rs1243396920 |
374 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 375 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148354654 CA2878887 |
382 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356556724 rs148354654 |
382 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2878888 rs772961792 |
384 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3428447 rs535292691 CA2878891 |
387 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1194790053 CA356556822 |
388 | E>G | No |
ClinGen gnomAD |
|
|
rs368949185 CA2878902 |
390 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368232198 CA93631077 |
391 | T>I | No |
ClinGen Ensembl |
|
|
CA356556965 rs1209113976 |
396 | F>L | No |
ClinGen TOPMed |
|
|
rs775545101 CA2878903 |
396 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA356556974 rs1488528534 |
397 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 399 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2878905 rs768844433 |
400 | A>T | No |
ClinGen ExAC |
|
|
rs1266625680 CA356557048 |
401 | N>D | No |
ClinGen TOPMed |
|
|
CA356557067 rs1469359787 |
401 | N>K | No |
ClinGen gnomAD |
|
|
CA356557654 rs1487038233 |
406 | V>I | No |
ClinGen gnomAD |
|
|
rs930612972 CA93634240 |
407 | I>T | No |
ClinGen TOPMed |
|
|
CA356557677 rs1261284181 |
409 | S>N | No |
ClinGen gnomAD |
|
|
rs371588814 CA2878925 |
410 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2878926 rs772244461 |
411 | M>V | No |
ClinGen ExAC |
|
|
CA356557708 rs1419938666 |
413 | N>T | No |
ClinGen TOPMed |
|
|
rs1190344827 CA356557717 |
414 | F>C | No |
ClinGen gnomAD |
|
|
rs1418599842 CA356557720 |
414 | F>L | No |
ClinGen gnomAD |
|
|
CA2878927 rs368929028 |
417 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759287571 CA2878928 |
418 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2878930 rs141506541 |
419 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201488708 COSM167017 CA2878929 |
419 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1335416675 CA356557772 |
420 | W>C | No |
ClinGen Ensembl |
|
|
rs762511291 CA2878931 |
422 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 424 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452542401 CA356558047 |
425 | M>T | No |
ClinGen TOPMed |
|
|
CA356558062 rs1362960440 |
427 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 428 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356558070 rs1577393127 |
428 | M>T | No |
ClinGen Ensembl |
|
|
rs747424967 CA93638091 |
430 | E>K | No |
ClinGen Ensembl |
|
|
CA93638097 rs1046757731 |
432 | H>R | No |
ClinGen gnomAD |
|
|
rs754997067 CA2878943 |
435 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA93638098 rs927879684 |
435 | P>S | No |
ClinGen Ensembl |
|
|
rs748246714 CA2878945 |
436 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA356558164 rs1217641870 COSM481185 |
440 | M>V | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA356558187 rs1577394249 |
443 | K>E | No |
ClinGen Ensembl |
|
|
CA93638876 rs766746362 |
445 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308122425 CA356558206 |
445 | I>T | No |
ClinGen gnomAD |
|
|
rs542616693 CA2878962 |
446 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2878963 rs755475334 |
446 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762557146 CA93638892 |
449 | A>D | No |
ClinGen Ensembl |
|
|
CA356558260 rs1216810411 |
454 | E>Q | No |
ClinGen TOPMed |
|
|
rs1421266508 CA356558271 |
455 | H>R | No |
ClinGen gnomAD |
|
|
CA93638900 rs570649808 |
457 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA93639216 rs377024564 |
463 | Y>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM1054670 CA93639222 rs866765051 |
465 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs34811474 CA356558351 |
465 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34811474 VAR_054044 CA2878992 |
465 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA93639223 rs989857847 |
468 | K>E | No |
ClinGen Ensembl |
|
|
rs781603844 CA2878994 |
472 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143912823 CA2878995 |
474 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754761160 CA2878996 |
474 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA356558416 rs1260646143 |
475 | V>I | No |
ClinGen gnomAD |
|
|
rs939008810 CA93641016 |
478 | Y>C | No |
ClinGen TOPMed |
|
|
rs762006568 CA2879011 |
483 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2879012 rs767807827 |
485 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA356558719 rs1440221923 |
485 | D>N | No |
ClinGen gnomAD |
|
|
CA93641060 rs910318665 |
486 | L>H | No |
ClinGen Ensembl |
|
|
rs750681301 CA2879013 |
488 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA93641063 rs944460543 |
489 | P>S | No |
ClinGen Ensembl |
|
|
CA356558767 rs944460543 |
489 | P>T | No |
ClinGen Ensembl |
|
|
rs372887745 CA2879015 |
490 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372887745 CA93641070 |
490 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA93641074 rs774328664 |
491 | N>T | No |
ClinGen Ensembl |
|
|
CA2879016 rs752606525 |
491 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758241289 CA2879018 |
492 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2879019 rs758241289 |
492 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA93641102 rs914072841 |
493 | E>G | No |
ClinGen Ensembl |
|
|
CA93641105 rs945614092 |
494 | G>V | No |
ClinGen Ensembl |
|
|
CA93641109 rs1043968057 |
496 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 500 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2879022 rs371172862 |
501 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2879023 rs745516525 |
503 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA356558990 rs1294365651 |
505 | S>R | No |
ClinGen TOPMed |
|
|
CA356558994 rs1269452535 |
506 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA356559008 rs1445772382 |
507 | L>R | No |
ClinGen gnomAD |
|
|
rs751498293 CA2879039 |
509 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs756697299 CA2879040 |
510 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1316775792 CA356559218 |
511 | P>S | No |
ClinGen gnomAD |
|
|
CA356559226 rs1175694524 |
512 | L>S | No |
ClinGen TOPMed |
|
|
CA356559233 rs1197259782 |
513 | L>P | No |
ClinGen gnomAD |
|
|
COSM109115 rs139520407 CA93644385 |
515 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA93644395 rs559716705 |
517 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2879041 rs780664822 |
518 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2879042 rs745448023 |
519 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2879043 rs769299350 |
519 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779804823 CA2879044 |
521 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs914854704 CA93644407 |
523 | H>D | No |
ClinGen Ensembl |
|
|
rs796307790 CA356559329 |
528 | R>L | No |
ClinGen gnomAD |
|
|
rs796307790 CA93644418 |
528 | R>Q | No |
ClinGen gnomAD |
|
|
rs780628587 CA2879045 |
528 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA356559330 rs1180057789 |
529 | M>L | No |
ClinGen TOPMed |
|
|
CA2879046 rs140699299 |
531 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1459413710 CA356559349 |
531 | N>Y | No |
ClinGen TOPMed |
|
|
rs774943244 CA2879047 |
533 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs980164466 CA93644441 |
534 | D>G | No |
ClinGen Ensembl |
|
|
rs762398520 CA2879048 |
535 | Q>H | No |
ClinGen ExAC |
|
|
rs1420004005 CA356559400 |
538 | Q>R | No |
ClinGen gnomAD |
|
|
rs1448502355 CA356559853 |
542 | D>N | No |
ClinGen gnomAD |
|
|
rs748983730 CA2879062 |
546 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs950879201 CA93645035 |
549 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2879064 rs779417519 |
549 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1379284529 CA356559966 |
550 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2879065 rs748565993 |
553 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA93645056 rs748565993 |
553 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356559994 rs1226997563 |
554 | I>T | No |
ClinGen TOPMed |
|
|
rs201363321 CA2879066 |
554 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 555 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356560009 rs1267082995 |
556 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2879069 rs771043324 |
557 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2879071 rs759738029 |
560 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs557083298 CA2879072 |
561 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772938316 CA2879093 |
564 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237290917 CA356560083 |
565 | S>F | No |
ClinGen gnomAD |
|
|
CA2879094 rs760658281 |
566 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2879095 rs149749991 |
567 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs573056698 CA2879097 |
567 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573056698 CA2879096 |
567 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA93645275 rs149749991 |
567 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1173255117 CA356560102 |
569 | L>* | No |
ClinGen gnomAD |
|
|
rs1432083276 CA356560099 |
569 | L>V | No |
ClinGen gnomAD |
|
|
rs764947097 CA2879098 |
571 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs752407065 CA2879099 |
572 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 573 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 573 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2879116 rs760438589 |
576 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA93645468 rs867834394 |
578 | N>D | No |
ClinGen Ensembl |
|
|
CA356560190 rs1218149779 |
580 | T>A | No |
ClinGen gnomAD |
|
|
CA356560203 rs1316402356 |
582 | N>T | No |
ClinGen TOPMed |
|
|
CA2879117 rs770855476 |
582 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356560217 rs1315911506 |
584 | H>R | No |
ClinGen gnomAD |
|
|
CA356560230 rs1450849952 |
586 | L>V | No |
ClinGen gnomAD |
|
|
rs759054546 CA2879120 |
587 | L>I | No |
ClinGen ExAC |
|
| TCGA novel | 588 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2879121 rs764848895 |
589 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 589 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs973863059 CA93645480 |
591 | L>P | No |
ClinGen Ensembl |
|
|
CA356560265 rs1258001693 |
592 | E>Q | No |
ClinGen TOPMed |
|
|
rs1328315594 CA356560276 |
593 | D>G | No |
ClinGen TOPMed |
|
|
CA2879123 rs762659013 |
594 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2879124 COSM733654 rs763691964 |
594 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356560289 rs1260415474 |
595 | L>R | No |
ClinGen gnomAD |
|
|
rs1476440537 CA550664363 |
596 | Y>* | No |
ClinGen gnomAD |
|
|
rs1164366275 CA356560302 |
597 | K>R | No |
ClinGen gnomAD |
|
|
rs1413476892 CA356560313 |
598 | M>I | No |
ClinGen gnomAD |
|
|
CA356560347 rs1161579146 |
603 | R>T | No |
ClinGen gnomAD |
|
|
rs751928386 CA2879125 |
604 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399479281 CA356560359 |
605 | T>S | No |
ClinGen gnomAD |
|
|
CA356560367 rs1577402815 |
606 | D>G | No |
ClinGen Ensembl |
|
|
CA356560365 rs1296491893 |
606 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs370276115 CA2879126 |
607 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2879142 rs533672504 |
609 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1278537389 CA356560447 |
616 | I>T | No |
ClinGen gnomAD |
|
|
CA2879145 rs575771639 |
618 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356560490 rs750853941 |
622 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 623 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA93646063 rs753556884 |
624 | T>A | No |
ClinGen gnomAD |
|
|
rs201954140 CA2879149 |
625 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2879150 rs753903477 |
626 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356560523 rs1333249594 |
628 | T>A | No |
ClinGen gnomAD |
|
|
CA356560527 rs1577403620 |
628 | T>I | No |
ClinGen Ensembl |
|
|
CA356560530 rs1441376048 |
629 | E>K | No |
ClinGen TOPMed |
|
|
rs1416408190 CA356560565 |
633 | R>K | No |
ClinGen gnomAD |
|
|
rs906712896 CA356560578 |
634 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA356560580 rs1170538986 |
634 | S>N | No |
ClinGen gnomAD |
|
|
rs906712896 CA93646117 |
634 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1194392220 CA356560905 |
635 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA356560904 rs1194392220 |
635 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2879171 rs758665567 |
644 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA2879170 rs752892651 |
644 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs758665567 CA356560973 |
644 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA2879172 rs778192398 |
646 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458179881 CA356560992 |
647 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA356560993 rs1458179881 |
647 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA356561023 rs1363258678 |
651 | V>A | No |
ClinGen gnomAD |
|
|
rs892433801 CA356561051 |
655 | D>E | No |
ClinGen TOPMed |
|
|
rs1401460027 CA356561054 |
656 | T>A | No |
ClinGen gnomAD |
|
|
CA356561059 rs1339250471 |
657 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2879175 rs779976609 |
659 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2879176 rs749197099 |
659 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356561071 rs779976609 |
659 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356561075 rs1263904236 |
660 | E>K | No |
ClinGen gnomAD |
|
|
rs778254664 CA2879178 |
662 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA356561108 rs1043795148 |
664 | R>S | No |
ClinGen gnomAD |
|
|
CA356561131 rs1577404730 |
668 | Q>* | No |
ClinGen Ensembl |
|
|
CA356561144 rs771661752 |
670 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2879180 rs771661752 |
670 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2879181 rs772880730 |
672 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 674 | V>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2879183 rs771295630 |
676 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs199902077 CA2879184 |
677 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356561207 rs1560450795 |
679 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 679 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA93647061 rs552682704 |
682 | E>G | No |
ClinGen Ensembl |
|
|
rs1421191636 CA356561235 |
683 | Y>C | No |
ClinGen gnomAD |
|
|
CA2879185 rs759960371 |
684 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1577404794 CA356561244 |
684 | Q>L | No |
ClinGen Ensembl |
|
|
rs368537806 CA2879186 |
686 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2879188 rs763150398 |
689 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2879189 rs764373002 |
690 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1395949687 CA356561278 |
690 | S>T | No |
ClinGen gnomAD |
|
|
CA93647095 rs1014089483 |
692 | R>G | No |
ClinGen Ensembl |
|
|
CA2879213 rs753525889 |
693 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA356561312 rs1170487023 |
694 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 695 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560451525 CA356561321 |
695 | E>Q | No |
ClinGen Ensembl |
|
|
rs1027953561 CA93648300 |
696 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 699 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766411258 CA2879216 COSM3661040 |
703 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2879217 rs202221095 |
703 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294299591 CA356561381 |
704 | T>A | No |
ClinGen gnomAD |
|
|
CA356561383 rs1367024976 |
704 | T>N | No |
ClinGen gnomAD |
|
|
rs1403119082 CA356561392 |
705 | M>I | No |
ClinGen gnomAD |
|
|
CA356561399 rs1281300426 |
706 | H>R | No |
ClinGen gnomAD |
|
|
rs9174 CA356561409 |
707 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756841584 CA93648371 |
709 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs746566068 CA2879219 |
709 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223352074 CA356561466 |
715 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 717 | M>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356561504 rs1196744690 |
720 | Q>R | No |
ClinGen gnomAD |
|
|
rs367659041 CA2879222 |
725 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM3775775 CA356561555 rs1170556411 |
728 | R>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA356561620 rs1303626129 |
736 | S>A | No |
ClinGen TOPMed |
|
|
CA356561642 rs1450004796 |
739 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 740 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343214608 CA356561650 |
740 | H>R | No |
ClinGen TOPMed |
|
|
rs755782244 CA2879241 |
741 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755782244 CA356561654 |
741 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376460606 CA2879242 |
747 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356561723 rs973214830 |
748 | I>M | No |
ClinGen gnomAD |
|
|
CA2879244 rs769236592 |
755 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA93648837 rs919120354 |
755 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs17855710 CA93648862 |
756 | E>G | No |
ClinGen gnomAD |
|
|
CA356561854 rs17855710 |
756 | E>V | No |
ClinGen gnomAD |
|
|
CA2879246 rs775029120 |
759 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA356561887 rs775029120 |
759 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1444691794 CA356561922 |
761 | E>A | No |
ClinGen gnomAD |
|
|
CA93648889 rs1019400309 |
762 | E>Q | No |
ClinGen TOPMed |
|
|
rs1560451984 CA356561935 |
762 | E>V | No |
ClinGen Ensembl |
|
|
CA2879247 rs748109493 |
763 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2879248 CA93648904 rs772204215 |
763 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748109493 CA356561950 |
763 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2879249 rs561331536 |
764 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1233968815 CA356561966 |
765 | S>G | No |
ClinGen gnomAD |
|
|
rs1381085831 CA356562011 |
767 | K>N | No |
ClinGen gnomAD |
|
|
CA356562006 rs1180767428 |
767 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 770 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156964264 CA356562057 |
771 | I>V | No |
ClinGen gnomAD |
|
|
rs1577406744 CA356562105 |
774 | E>A | No |
ClinGen Ensembl |
|
|
CA2879252 rs775248115 |
777 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751523068 CA2879255 |
779 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA356562169 rs1360056234 |
779 | S>P | No |
ClinGen TOPMed |
|
|
rs756665756 CA2879256 |
780 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs943226343 CA93648959 |
781 | A>G | No |
ClinGen Ensembl |
|
|
CA356562192 rs1484600842 |
781 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2879257 rs767043531 |
782 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356562220 rs1577406825 |
783 | N>T | No |
ClinGen Ensembl |
|
|
rs749967876 CA2879258 |
784 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA356562244 rs146675413 |
785 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2879260 rs146675413 |
785 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356562259 rs1346462953 |
786 | A>G | No |
ClinGen gnomAD |
|
|
CA356562260 rs1346462953 |
786 | A>V | No |
ClinGen gnomAD |
|
|
rs1220343203 CA356562278 |
789 | A>V | No |
ClinGen gnomAD |
|
|
CA2879262 rs755396618 |
790 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1200993284 CA356562296 |
792 | A>V | No |
ClinGen gnomAD |
|
|
CA356562298 rs779503444 |
793 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs779503444 CA2879263 |
793 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs980364248 CA93649055 |
800 | E>D | No |
ClinGen TOPMed |
|
|
CA93649053 VAR_054045 rs11550697 |
800 | E>G | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 802 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2879264 CA93649057 rs748672674 |
803 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA356562371 rs1191466541 |
804 | P>A | No |
ClinGen gnomAD |
|
|
rs1418303797 CA356562390 |
807 | D>H | No |
ClinGen TOPMed |
|
|
CA356562402 rs1188355683 |
808 | S>F | No |
ClinGen TOPMed |
No associated diseases with Q9UJX5
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| anaphase-promoting complex | A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis. Substrate recognition by APC occurs through degradation signals, the most common of which is termed the Dbox degradation motif, originally discovered in cyclin B. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear periphery | The portion of the nuclear lumen proximal to the inner nuclear membrane. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein phosphatase binding | Binding to a protein phosphatase. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| anaphase-promoting complex-dependent catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by the anaphase-promoting complex, and mediated by the proteasome. |
| 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. |
| protein K11-linked ubiquitination | A protein ubiquitination process in which ubiquitin monomers are attached to a protein, and then ubiquitin polymers are formed by linkages between lysine residues at position 11 of the ubiquitin monomers. K11-linked polyubiquitination targets the substrate protein for degradation. The anaphase-promoting complex promotes the degradation of mitotic regulators by assembling K11-linked polyubiquitin chains. |
| regulation of meiotic cell cycle | Any process that modulates the rate or extent of progression through the meiotic cell cycle. |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| regulation of mitotic metaphase/anaphase transition | Any process that modulates the frequency, rate or extent of the cell cycle process in which a cell progresses from metaphase to anaphase during mitosis, triggered by the activation of the anaphase promoting complex by Cdc20/Sleepy homolog which results in the degradation of Securin. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRFPTCFPS | FRVVGEKQLP | QEIIFLVWSP | KRDLIALANT | AGEVLLHRLA | SFHRVWSFPP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NENTGKEVTC | LAWRPDGKLL | AFALADTKKI | VLCDVEKPES | LHSFSVEAPV | SCMHWMEVTV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ESSVLTSFYN | AEDESNLLLP | KLPTLPKNYS | NTSKIFSEEN | SDEIIKLLGD | VRLNILVLGG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SSGFIELYAY | GMFKIARVTG | IAGTCLALCL | SSDLKSLSVV | TEVSTNGASE | VSYFQLETNL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LYSFLPEVTR | MARKFTHISA | LLQYINLSLT | CMCEAWEEIL | MQMDSRLTKF | VQEKNTTTSV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QDEFMHLLLW | GKASAELQTL | LMNQLTVKGL | KKLGQSIESS | YSSIQKLVIS | HLQSGSESLL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YHLSELKGMA | SWKQKYEPLG | LDAAGIEEAI | TAVGSFILKA | NELLQVIDSS | MKNFKAFFRW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LYVAMLRMTE | DHVLPELNKM | TQKDITFVAE | FLTEHFNEAP | DLYNRKGKYF | NVERVGQYLK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DEDDDLVSPP | NTEGNQWYDF | LQNSSHLKES | PLLFPYYPRK | SLHFVKRRME | NIIDQCLQKP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ADVIGKSMNQ | AICIPLYRDT | RSEDSTRRLF | KFPFLWNNKT | SNLHYLLFTI | LEDSLYKMCI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LRRHTDISQS | VSNGLIAIKF | GSFTYATTEK | VRRSIYSCLD | AQFYDDETVT | VVLKDTVGRE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GRDRLLVQLP | LSLVYNSEDS | AEYQFTGTYS | TRLDEQCSAI | PTRTMHFEKH | WRLLESMKAQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YVAGNGFRKV | SCVLSSNLRH | VRVFEMDIDD | EWELDESSDE | EEEASNKPVK | IKEEVLSESE |
| 790 | 800 | ||||
| AENQQAGAAA | LAPEIVIKVE | KLDPELDS |