Q14137
PR
Gene name |
BOP1 |
Protein name |
Ribosome biogenesis protein BOP1 |
Names |
Block of proliferation 1 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23246 |
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
11 structures for Q14137
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8FKP | EM | 285 A | SS | 1-746 | PDB |
| 8FKQ | EM | 276 A | SS | 1-746 | PDB |
| 8FKR | EM | 289 A | SS | 1-746 | PDB |
| 8FKS | EM | 288 A | SS | 1-746 | PDB |
| 8FKT | EM | 281 A | SS | 1-746 | PDB |
| 8FKU | EM | 282 A | SS | 1-746 | PDB |
| 8FKV | EM | 247 A | SS | 1-746 | PDB |
| 8FKW | EM | 250 A | SS | 1-746 | PDB |
| 8FKX | EM | 259 A | SS | 1-746 | PDB |
| 8FKY | EM | 267 A | SS | 1-746 | PDB |
| AF-Q14137-F1 | Predicted | AlphaFoldDB |
529 variants for Q14137
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1588614524 CA372595515 |
2 | A>V | No |
ClinGen Ensembl |
|
|
CA372595465 rs1371904625 |
4 | S>L | No |
TOPMed ClinGen |
|
|
CA372595445 rs1554840205 |
5 | R>Q | No |
ClinGen gnomAD |
|
|
rs1299259118 CA372595431 |
6 | G>C | No |
TOPMed ClinGen |
|
|
CA372595415 rs1554840201 |
6 | G>D | No |
gnomAD ClinGen |
|
| TCGA novel | 6 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372595390 rs1390090858 |
7 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
CA372595387 rs1390090858 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1372062609 CA372595358 |
8 | G>A | No |
ClinGen TOPMed |
|
|
CA372595357 rs1372062609 |
8 | G>V | No |
ClinGen TOPMed |
|
|
rs1301473959 CA372595319 |
10 | T>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1301473959 CA372595317 |
10 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1588614444 CA372595299 |
11 | A>G | No |
ClinGen Ensembl |
|
|
CA372595289 rs1228160416 |
12 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
CA372595278 rs1564606470 |
12 | A>V | No |
Ensembl ClinGen |
|
|
CA372595245 rs1250757615 |
13 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs782340581 CA4935710 |
15 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA372595198 rs1554840187 |
16 | R>W | No |
gnomAD ClinGen |
|
|
rs1588614381 CA372595150 |
19 | K>E | No |
ClinGen Ensembl |
|
|
rs782228963 CA4935709 |
20 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1253365015 CA372595085 |
21 | R>P | No |
TOPMed ClinGen |
|
|
CA372595080 rs1467838000 |
22 | S>P | No |
TOPMed ClinGen |
|
|
CA372595065 rs1554840182 |
22 | S>Y | No |
ClinGen gnomAD |
|
|
rs1554840181 CA372595048 |
23 | E>G | No |
gnomAD ClinGen |
|
|
rs1554840180 CA372595036 |
24 | P>T | No |
gnomAD ClinGen |
|
|
rs1191390150 CA372595008 |
25 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs1391576146 CA372594986 |
27 | E>K | No |
ClinGen TOPMed |
|
|
rs782569588 CA4935708 |
28 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782537208 CA4935707 |
30 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4935706 rs782295654 |
32 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782348320 CA4935687 |
34 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4935686 rs782348320 |
34 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782348320 CA187640703 |
34 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs373886222 CA187640707 |
34 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4935685 rs782171258 |
35 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378126114 CA372594592 |
35 | P>L | No |
TOPMed ClinGen |
|
|
rs782467368 CA4935681 |
36 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782467368 CA4935683 |
36 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs782133829 | 36 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564605026 CA372594573 |
36 | L>P | No |
ClinGen Ensembl |
|
| rs782133829 | 36 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782467368 CA4935682 |
36 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4935677 rs781829651 |
38 | C>S | No |
ExAC gnomAD ClinGen |
|
|
CA4935675 rs571244747 |
39 | T>I | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs782763329 CA4935676 |
39 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4935673 rs782802953 |
41 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4935674 rs781804928 |
41 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372594468 rs11539692 |
42 | L>F | No |
TOPMed ClinGen |
|
|
rs782116294 CA4935672 |
43 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA372594433 rs782116294 |
43 | S>T | No |
ExAC gnomAD ClinGen |
|
|
rs782001952 CA4935671 |
44 | H>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372594378 rs1554839833 |
46 | T>I | No |
gnomAD ClinGen |
|
|
rs549552930 CA4935669 |
47 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA372594334 rs768626008 |
48 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA4935667 rs141420653 |
49 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782281672 CA4935666 |
50 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372594271 rs879954414 |
51 | G>D | No |
ClinGen gnomAD |
|
|
CA372594269 rs879954414 |
51 | G>V | No |
gnomAD ClinGen |
|
|
CA4935663 rs782267874 |
52 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4935660 rs782184080 |
54 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372594161 rs1554839829 |
55 | S>I | No |
gnomAD ClinGen |
|
|
CA187640614 rs781851211 |
56 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781851211 CA4935657 |
56 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372594120 rs1554839827 |
57 | E>K | No |
gnomAD ClinGen |
|
|
CA4935654 rs200978829 |
58 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs782695066 CA4935653 |
59 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA372594050 rs1458356803 |
60 | F>C | No |
ClinGen TOPMed |
|
|
CA372593945 rs1236461668 |
64 | E>G | No |
TOPMed gnomAD ClinGen |
|
|
CA372593943 rs1236461668 |
64 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4935650 rs782808665 |
66 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs148894796 CA4935648 |
67 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA372592900 rs1191711833 |
68 | S>N | No |
TOPMed ClinGen |
|
|
CA4935646 rs782233220 |
70 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4935645 rs781926014 |
70 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA372592843 rs1424374707 |
71 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
rs560509493 CA4935644 |
71 | S>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA187640558 rs952013469 |
72 | E>K | No |
Ensembl ClinGen |
|
|
rs201751027 CA187640557 |
73 | D>E | No |
ClinGen 1000Genomes |
|
|
CA4935643 rs782280925 |
73 | D>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4935640 rs782206625 |
76 | E>D | No |
ExAC gnomAD ClinGen |
|
|
rs782512248 CA4935641 |
76 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA372592624 rs781803290 |
78 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs376129693 CA4935638 |
78 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA372592616 rs371797893 |
79 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA4935636 rs371797893 |
79 | E>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA372592541 rs1367484145 |
81 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
CA187640541 rs11539690 |
82 | E>G | No |
Ensembl ClinGen |
|
|
rs781951059 CA4935633 |
84 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4935631 rs782086063 |
87 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1222387638 CA372592299 |
90 | G>D | No |
ClinGen TOPMed |
|
|
rs1246103552 CA372592257 |
92 | S>T | No |
TOPMed ClinGen |
|
|
rs782704530 CA4935629 |
93 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372592141 rs1554839795 |
96 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 97 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372592062 rs1424102509 |
99 | E>D | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 99 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372592032 rs1554839792 |
101 | Q>E | No |
gnomAD ClinGen |
|
|
CA372591956 rs1477333736 |
103 | Q>R | No |
ClinGen TOPMed |
|
|
rs1427930197 CA372596003 |
107 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA372595961 rs1480426000 |
108 | C>S | No |
ClinGen TOPMed |
|
|
rs908179759 CA187654877 |
109 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA187654874 rs1027174016 |
113 | M>V | No |
Ensembl ClinGen |
|
| TCGA novel | 114 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297908597 CA372595851 |
114 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs760786450 CA187654871 |
116 | A>T | No |
TOPMed ClinGen |
|
|
rs1344926317 CA372595808 |
117 | R>L | No |
ClinGen TOPMed |
|
|
rs1344926317 CA372595813 |
117 | R>Q | No |
TOPMed ClinGen |
|
| TCGA novel | 117 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964528739 CA187654870 |
118 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1019799117 CA372595680 |
123 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA187654855 rs1019799117 |
123 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1588599288 CA372595628 |
125 | D>E | No |
Ensembl ClinGen |
|
| TCGA novel | 127 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554838288 CA372595544 |
129 | E>D | No |
gnomAD ClinGen |
|
|
CA372595520 rs1588599284 |
130 | E>D | No |
Ensembl ClinGen |
|
|
rs1220835216 CA372589711 |
133 | R>Q | No |
TOPMed ClinGen |
|
|
CA187649255 rs984541957 |
133 | R>W | No |
TOPMed ClinGen |
|
| TCGA novel | 134 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347167920 CA372589688 |
135 | T>M | No |
TOPMed ClinGen |
|
|
CA372589677 rs1229215090 |
136 | V>A | No |
TOPMed ClinGen |
|
|
CA372589656 rs1436260140 |
139 | V>M | No |
TOPMed ClinGen |
|
|
CA372589640 rs1204148511 |
140 | P>L | No |
TOPMed ClinGen |
|
| TCGA novel | 142 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372589579 rs1192230617 |
145 | D>E | No |
ClinGen TOPMed |
|
|
CA372589590 rs1489687049 |
145 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs966289610 CA187649244 |
146 | D>N | No |
Ensembl ClinGen |
|
| TCGA novel | 147 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1019630688 CA187649233 |
149 | H>N | No |
ClinGen TOPMed |
|
| TCGA novel | 149 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372589532 rs1421087868 |
150 | V>M | No |
ClinGen TOPMed |
|
|
rs1169347452 CA372589500 |
153 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
| TCGA novel | 155 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1010197764 CA187649226 |
156 | G>S | No |
TOPMed ClinGen |
|
|
CA187649221 rs891797581 |
158 | R>C | No |
ClinGen TOPMed |
|
|
rs1435772457 CA372589437 |
158 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA372589416 rs1337554918 |
159 | I>S | No |
ClinGen TOPMed |
|
|
rs1054538479 CA187649213 |
160 | Y>C | No |
ClinGen Ensembl |
|
|
CA187649209 rs1000321051 |
162 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 162 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372589333 rs1588589235 |
163 | L>V | No |
Ensembl ClinGen |
|
| TCGA novel | 164 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA187649198 rs1044892645 |
164 | R>Q | No |
TOPMed ClinGen |
|
|
CA187649199 rs903675515 |
164 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs947887943 CA187649195 |
165 | T>I | No |
ClinGen Ensembl |
|
|
CA187649191 rs917803803 |
166 | R>G | No |
TOPMed ClinGen |
|
|
rs1191082218 CA372589280 |
166 | R>Q | No |
TOPMed ClinGen |
|
|
rs917803803 CA187649190 |
166 | R>W | No |
ClinGen TOPMed |
|
|
rs1474143837 CA372589192 |
170 | D>V | No |
ClinGen TOPMed |
|
|
CA372589154 rs1162488417 |
171 | Q>H | No |
ClinGen TOPMed |
|
|
CA372589168 rs1414051722 |
171 | Q>R | No |
TOPMed ClinGen |
|
|
CA372589032 rs1393518170 |
176 | M>L | No |
TOPMed ClinGen |
|
| TCGA novel | 178 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 178 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372588930 rs1320240407 |
179 | P>A | No |
TOPMed ClinGen |
|
|
rs1430117383 CA372588859 |
181 | Y>* | No |
ClinGen TOPMed |
|
|
CA372588881 rs1324689466 |
181 | Y>N | No |
TOPMed ClinGen |
|
|
rs1256381303 CA372588757 |
183 | R>C | No |
ClinGen TOPMed |
|
|
rs966612161 CA187649133 |
183 | R>H | No |
TOPMed ClinGen |
|
|
rs1256381303 CA372588762 |
183 | R>S | No |
TOPMed ClinGen |
|
| TCGA novel | 184 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372588707 rs1361900160 |
185 | V>M | No |
TOPMed ClinGen |
|
|
CA187649113 rs956063214 |
188 | P>L | No |
ClinGen TOPMed |
|
|
rs1432958556 CA372588588 |
190 | T>I | No |
ClinGen TOPMed |
|
|
rs1312415060 CA372588572 |
191 | G>V | No |
TOPMed ClinGen |
|
|
CA187649106 rs1000211146 |
192 | R>Q | No |
ClinGen TOPMed |
|
|
CA187649108 rs1033039655 |
192 | R>W | No |
TOPMed ClinGen |
|
|
CA187649101 rs905925027 |
194 | L>P | No |
ClinGen TOPMed |
|
|
CA372588476 rs1234550116 |
197 | T>M | No |
ClinGen TOPMed |
|
|
rs1349340690 CA372588473 |
198 | D>Y | No |
ClinGen TOPMed |
|
|
rs1342409155 CA372588333 |
204 | V>M | No |
TOPMed ClinGen |
|
|
rs896346282 CA187649098 |
205 | R>W | No |
ClinGen TOPMed |
|
|
CA187649082 rs940630322 |
206 | R>Q | No |
ClinGen TOPMed |
|
|
CA187649092 rs1056384755 |
206 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1199415401 CA372588259 |
208 | Q>R | No |
TOPMed ClinGen |
|
|
rs1390917331 CA372588085 |
215 | V>G | No |
TOPMed ClinGen |
|
|
rs1173050957 CA372588094 |
215 | V>L | No |
TOPMed ClinGen |
|
| TCGA novel | 216 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166403186 CA372588056 |
218 | N>D | No |
TOPMed ClinGen |
|
|
CA372588046 rs1328408675 |
218 | N>K | No |
ClinGen TOPMed |
|
|
CA372588049 rs1396137305 |
218 | N>S | No |
ClinGen TOPMed |
|
| rs1261251013 | 222 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA187648990 rs1023049958 |
222 | P>L | No |
ClinGen TOPMed |
|
|
CA372585936 rs1424568274 |
225 | D>E | No |
TOPMed ClinGen |
|
|
rs1261173428 CA372585947 |
225 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1035296430 CA187648983 |
228 | S>R | No |
TOPMed ClinGen |
|
|
CA372585882 rs1160447382 |
229 | G>R | No |
ClinGen TOPMed |
|
|
CA372585868 rs1452309924 |
230 | D>N | No |
TOPMed ClinGen |
|
|
rs1383645232 CA372585847 |
231 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs886332425 CA187648980 |
232 | M>T | No |
TOPMed ClinGen |
|
|
rs1294750540 CA372585796 |
235 | P>L | No |
ClinGen TOPMed |
|
|
CA187648979 rs1048967179 |
239 | R>C | No |
ClinGen TOPMed |
|
|
CA372585741 rs1307525655 |
239 | R>H | No |
TOPMed ClinGen |
|
|
rs994427127 CA372585725 |
240 | P>L | No |
TOPMed ClinGen |
|
|
CA187648978 rs994427127 |
240 | P>R | No |
TOPMed ClinGen |
|
|
rs1213221407 CA372585697 |
242 | D>N | No |
ClinGen TOPMed |
|
|
CA187648966 rs1038755860 |
244 | R>C | No |
ClinGen TOPMed |
|
|
rs1485506535 CA372585654 |
244 | R>H | No |
ClinGen TOPMed |
|
|
rs1178112378 CA372585647 |
245 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 250 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 251 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372585568 rs1362644427 |
251 | V>M | No |
TOPMed ClinGen |
|
| TCGA novel | 252 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434812877 CA372585518 |
253 | K>T | No |
TOPMed ClinGen |
|
|
rs911658328 CA187648955 |
254 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA187648954 rs1053673659 |
255 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 256 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1027519016 CA187648924 |
258 | R>C | No |
TOPMed ClinGen |
|
|
CA187648917 rs994751078 |
258 | R>H | No |
Ensembl ClinGen |
|
| TCGA novel | 259 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372585368 rs1370378589 |
259 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 260 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 261 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 261 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA187648911 rs1039138279 |
262 | A>T | No |
TOPMed ClinGen |
|
|
rs1008582267 CA187648907 |
265 | M>I | No |
ClinGen TOPMed |
|
|
rs1274237484 CA372585218 |
266 | G>D | No |
TOPMed ClinGen |
|
|
TCGA novel rs1192329301 CA372585204 |
267 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed ClinGen |
|
CA372585205 rs1192329301 |
267 | W>C | No |
TOPMed ClinGen |
|
|
rs1250527515 CA372585179 |
270 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 271 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA187648901 rs890162857 |
271 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1052882313 CA187648889 |
272 | R>G | No |
TOPMed ClinGen |
|
|
CA187648880 rs934809851 |
272 | R>Q | No |
ClinGen TOPMed |
|
|
rs1052882313 CA187648886 |
272 | R>W | No |
TOPMed ClinGen |
|
|
rs926150063 CA187648874 |
274 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372585108 rs1394973361 |
275 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 276 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323810547 CA372585054 |
278 | P>L | No |
ClinGen TOPMed |
|
|
CA187648869 rs1043313580 |
285 | A>T | No |
TOPMed ClinGen |
|
|
CA372584919 rs1214252340 |
286 | Q>E | No |
TOPMed ClinGen |
|
|
CA372584878 rs1337414713 |
288 | D>Y | No |
TOPMed ClinGen |
|
|
rs916181974 CA187648858 |
291 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs960068714 CA187648854 |
292 | V>M | No |
TOPMed ClinGen |
|
| TCGA novel | 293 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908585250 CA187648853 |
294 | G>R | No |
TOPMed ClinGen |
|
|
CA187648852 rs982920247 |
295 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs950550015 CA187648835 |
295 | R>H | No |
ClinGen TOPMed |
|
|
CA372584754 rs982920247 |
295 | R>S | No |
TOPMed ClinGen |
|
|
CA372584701 rs1401254717 |
298 | M>I | No |
TOPMed ClinGen |
|
|
CA187648806 rs1027468097 |
300 | V>I | No |
TOPMed ClinGen |
|
|
rs1343529152 CA372584654 |
301 | P>H | No |
TOPMed ClinGen |
|
|
CA372584620 rs1399586437 |
304 | K>Q | No |
ClinGen TOPMed |
|
|
CA372584576 rs1313731728 |
306 | A>V | No |
ClinGen TOPMed |
|
|
CA187648803 rs1017524593 |
311 | A>T | No |
TOPMed ClinGen |
|
|
rs1008946352 CA187648795 |
312 | E>K | No |
TOPMed ClinGen |
|
|
rs890163896 CA187648780 |
313 | S>L | No |
ClinGen Ensembl |
|
|
CA372584423 rs1444783635 |
315 | N>S | No |
TOPMed ClinGen |
|
|
rs1215364747 CA372584399 |
317 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 318 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs904680381 CA187648766 |
324 | E>K | No |
TOPMed ClinGen |
|
| TCGA novel | 325 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372584224 rs1396996173 |
327 | R>C | No |
ClinGen TOPMed |
|
|
rs908579444 CA187648734 |
327 | R>H | No |
TOPMed ClinGen |
|
|
rs908579444 CA372584218 |
327 | R>L | No |
ClinGen TOPMed |
|
|
rs982810937 CA187648730 |
329 | A>V | No |
TOPMed ClinGen |
|
|
CA372584176 rs1376766975 |
330 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs55858125 CA187648717 |
335 | P>L | No |
Ensembl ClinGen |
|
|
rs920024095 CA187648716 |
337 | E>K | No |
TOPMed ClinGen |
|
|
CA372584036 rs920024095 |
337 | E>Q | No |
ClinGen TOPMed |
|
|
CA372584021 rs1588588437 |
338 | R>G | No |
ClinGen Ensembl |
|
|
CA372583953 rs1197302069 |
340 | L>P | No |
ClinGen TOPMed |
|
|
rs1270683118 CA372583938 |
341 | S>N | No |
TOPMed ClinGen |
|
|
rs1254900040 CA372583854 |
344 | P>L | No |
ClinGen TOPMed |
|
|
rs1194223861 CA372583861 |
344 | P>S | No |
ClinGen TOPMed |
|
|
rs964522702 CA187648707 |
345 | R>C | No |
TOPMed ClinGen |
|
|
CA187648687 rs1017931750 |
345 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA372583843 rs1017931750 |
345 | R>L | No |
TOPMed ClinGen |
|
|
CA372583821 rs1166489961 |
347 | F>L | No |
ClinGen TOPMed |
|
|
rs1328520376 CA372583780 |
349 | S>N | No |
TOPMed ClinGen |
|
|
rs1564594910 CA372583772 |
349 | S>R | No |
Ensembl ClinGen |
|
|
rs1384564452 CA372583758 |
351 | R>Q | No |
TOPMed ClinGen |
|
|
rs1395959064 CA372583760 |
351 | R>W | No |
ClinGen TOPMed |
|
|
CA187648682 rs987446726 |
352 | A>T | No |
ClinGen Ensembl |
|
|
CA372583749 rs1326632060 |
353 | V>M | No |
ClinGen TOPMed |
|
|
CA372583737 rs1229183644 |
354 | P>S | No |
ClinGen TOPMed |
|
|
CA187648676 rs1031366994 |
357 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA187648669 rs998536889 |
358 | R>C | No |
TOPMed ClinGen |
|
|
CA372583688 rs1209280783 |
358 | R>H | No |
ClinGen TOPMed |
|
|
rs904252413 CA187648664 |
359 | F>L | No |
ClinGen Ensembl |
|
|
CA372583671 rs1262571805 |
359 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 359 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448907581 CA372583652 |
361 | Q>R | No |
ClinGen TOPMed |
|
|
rs1021385027 CA187648659 |
363 | R>H | No |
TOPMed ClinGen |
|
|
CA372583625 rs1423274166 |
364 | F>L | No |
ClinGen TOPMed |
|
|
rs1013054084 CA187648653 |
365 | E>K | No |
TOPMed ClinGen |
|
| TCGA novel | 366 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372583601 rs1588588335 |
366 | R>G | No |
Ensembl ClinGen |
|
|
CA187648640 rs894675637 |
366 | R>H | No |
TOPMed ClinGen |
|
|
rs1057504395 CA187648624 |
371 | Y>F | No |
TOPMed ClinGen |
|
|
rs1295980578 CA372583515 |
374 | P>S | No |
ClinGen TOPMed |
|
|
rs887095055 CA187648612 |
377 | R>C | No |
ClinGen TOPMed |
|
|
CA372583481 rs1233669669 |
377 | R>H | No |
TOPMed ClinGen |
|
| TCGA novel | 381 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359464243 CA372583373 |
385 | P>S | No |
ClinGen TOPMed |
|
|
rs1415068217 CA372583366 |
386 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 387 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021378596 CA187648521 |
394 | R>Q | No |
ClinGen TOPMed |
|
|
rs1376741082 CA372583286 |
394 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA372583274 rs1238017215 |
395 | P>L | No |
ClinGen TOPMed |
|
|
CA372583275 rs1238017215 |
395 | P>R | No |
ClinGen TOPMed |
|
|
rs959110291 CA187648506 |
402 | P>S | No |
ClinGen Ensembl |
|
|
rs1035892665 CA187648480 |
403 | T>M | No |
TOPMed ClinGen |
|
|
CA372583156 rs1178199633 |
406 | A>V | No |
TOPMed ClinGen |
|
| TCGA novel | 407 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438425186 CA372583149 |
407 | L>P | No |
TOPMed ClinGen |
|
|
rs968372605 CA187648361 |
410 | R>K | No |
ClinGen Ensembl |
|
|
CA372583069 rs1215401907 |
413 | S>G | No |
ClinGen TOPMed |
|
|
rs958454548 CA187648334 |
417 | R>Q | No |
TOPMed ClinGen |
|
|
rs991635176 CA187648338 |
417 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1274338910 CA372583012 |
418 | C>F | No |
ClinGen TOPMed |
|
|
CA372582993 rs1223084712 |
420 | S>N | No |
ClinGen TOPMed |
|
|
rs1487932765 CA372582966 |
423 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 425 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425431846 CA372582931 |
426 | Q>H | No |
TOPMed ClinGen |
|
|
rs1186747975 CA372582934 |
426 | Q>R | No |
ClinGen TOPMed |
|
|
CA372582845 rs1287048054 |
433 | D>E | No |
TOPMed ClinGen |
|
|
rs1215963713 CA372582835 |
434 | D>G | No |
TOPMed ClinGen |
|
|
rs1320607426 CA372582843 |
434 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 435 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs933163282 CA187648233 |
435 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs933163282 CA372582829 |
435 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1413085603 CA372582797 |
438 | R>Q | No |
ClinGen TOPMed |
|
|
CA187648226 rs924480306 |
438 | R>W | No |
TOPMed ClinGen |
|
|
rs1041640267 CA187648220 |
439 | L>F | No |
TOPMed ClinGen |
|
|
rs1588587712 CA372582740 |
442 | V>G | No |
Ensembl ClinGen |
|
|
rs1358820774 CA372582710 |
445 | A>V | No |
TOPMed ClinGen |
|
|
CA187648214 rs914506462 |
446 | R>C | No |
TOPMed ClinGen |
|
|
rs991147661 CA187648202 |
446 | R>H | No |
ClinGen TOPMed |
|
|
rs1342643489 CA372582657 |
449 | R>K | No |
ClinGen TOPMed |
|
|
CA372582648 rs1588587662 |
449 | R>S | No |
ClinGen Ensembl |
|
|
rs1446389974 CA372582618 |
452 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs928396741 CA187648193 |
454 | G>R | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 455 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588587612 CA372582577 |
455 | G>C | No |
Ensembl ClinGen |
|
|
CA187648178 rs981637586 |
456 | V>M | No |
TOPMed ClinGen |
|
| TCGA novel | 456 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215479908 CA372582534 |
458 | K>R | No |
ClinGen TOPMed |
|
|
rs1280691824 CA372582476 |
461 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1588587568 CA372582433 |
463 | N>T | No |
ClinGen Ensembl |
|
|
rs1554836836 CA372582416 |
464 | P>R | No |
ClinGen gnomAD |
|
|
rs951529682 CA187648174 |
464 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1470493682 CA372582413 |
465 | S>G | No |
TOPMed ClinGen |
|
|
rs1419258074 CA372582379 |
467 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1174513713 CA372582348 |
468 | V>A | No |
TOPMed ClinGen |
|
|
CA372582336 rs1404694973 |
469 | C>Y | No |
TOPMed ClinGen |
|
|
rs974224443 CA187648171 |
470 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 472 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372582272 rs1355607703 |
473 | A>V | No |
ClinGen TOPMed |
|
|
rs1018943014 CA187648145 |
475 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
rs1400283111 CA372582197 |
477 | D>V | No |
ClinGen TOPMed |
|
|
rs1445394111 CA372582178 |
478 | S>L | No |
TOPMed ClinGen |
|
|
rs893021110 CA187648101 |
479 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1457295840 CA372582078 |
484 | P>R | No |
ClinGen TOPMed |
|
|
CA372582086 rs1256076467 |
484 | P>S | No |
ClinGen TOPMed |
|
|
CA372582057 rs1269592251 |
485 | A>S | No |
TOPMed ClinGen |
|
|
CA372582049 rs1450047312 |
485 | A>V | No |
ClinGen TOPMed |
|
|
rs1373934041 CA372582041 |
486 | L>P | No |
ClinGen TOPMed |
|
|
rs1198425931 CA372582046 |
486 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372582036 rs1478998245 |
487 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA187648088 rs937020500 |
489 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372582014 rs937020500 |
489 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA372582016 rs1169068213 |
489 | R>W | No |
ClinGen TOPMed |
|
|
CA372581977 rs1588587279 |
491 | V>G | No |
ClinGen Ensembl |
|
|
CA187648085 rs928312733 |
491 | V>M | No |
ClinGen Ensembl |
|
|
rs1462472072 CA372581966 |
492 | A>V | No |
ClinGen TOPMed |
|
|
CA372581964 rs1554836804 |
493 | G>S | No |
gnomAD ClinGen |
|
|
rs1392296590 CA372581936 |
494 | S>N | No |
TOPMed ClinGen |
|
|
rs1588587254 CA372581906 |
496 | D>A | No |
Ensembl ClinGen |
|
|
rs1588587249 CA372581899 |
496 | D>E | No |
Ensembl ClinGen |
|
|
rs1340819628 CA372581830 |
501 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs918351988 CA187648080 |
502 | F>Y | No |
ClinGen Ensembl |
|
|
CA372581797 rs962856713 |
503 | V>F | No |
TOPMed gnomAD ClinGen |
|
|
CA4935603 rs962856713 |
503 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA372581783 rs1245476638 |
504 | P>L | No |
TOPMed ClinGen |
|
|
CA372581779 rs1554836796 |
505 | P>S | No |
gnomAD ClinGen |
|
|
rs1354346460 CA372581773 |
506 | E>K | No |
ClinGen TOPMed |
|
|
rs1209373636 CA372581756 |
507 | E>K | No |
ClinGen TOPMed |
|
|
CA372581726 rs1489415111 |
508 | P>R | No |
TOPMed ClinGen |
|
|
CA187648050 rs1018522560 |
508 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 510 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4935555 rs782523473 |
511 | Q>L | No |
ExAC ClinGen |
|
|
CA187648038 rs955385249 |
512 | P>L | No |
Ensembl ClinGen |
|
|
CA4935554 rs782213286 |
512 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs1262947198 CA372581640 |
513 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1475797591 CA372581634 |
514 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA372581631 rs1167544992 |
514 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs999540863 CA187648037 |
519 | S>P | No |
Ensembl ClinGen |
|
|
rs902577539 CA187648034 |
520 | E>K | No |
Ensembl ClinGen |
|
|
rs1455931638 CA372581504 |
522 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
CA4935552 rs782447374 |
523 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421164627 CA372581481 |
523 | R>H | No |
TOPMed ClinGen |
|
|
CA4935551 rs781815329 |
525 | V>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4935601 rs1338696892 |
528 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA372581417 rs1314750383 |
528 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA4935550 rs782795492 |
530 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA372581385 rs1214761245 |
530 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA372581345 rs1554836771 |
532 | C>W | No |
gnomAD ClinGen |
|
|
rs1285672653 CA372581340 |
533 | H>Y | No |
TOPMed ClinGen |
|
|
CA372581327 rs1184030561 |
534 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4935587 rs1330823380 |
537 | V>A | No |
TOPMed ClinGen |
|
|
CA4935535 rs547157741 |
538 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372581213 rs1554836732 |
539 | Q>* | No |
gnomAD ClinGen |
|
|
CA4935534 rs782409110 |
540 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554836730 CA372581138 |
542 | W>* | No |
gnomAD ClinGen |
|
|
CA372581110 rs564720149 |
543 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782523177 CA4935531 |
544 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022381055 CA187647935 |
545 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs781834744 CA4935530 |
545 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA187647931 rs1011018903 |
546 | G>E | No |
Ensembl ClinGen |
|
|
rs1196181982 CA372581056 |
547 | D>A | No |
ClinGen TOPMed |
|
|
rs957213891 CA372580989 |
551 | V>L | No |
ClinGen TOPMed |
|
|
CA187647928 rs957213891 |
551 | V>M | No |
TOPMed ClinGen |
|
|
rs1034567181 CA187647916 |
552 | V>L | No |
ClinGen TOPMed |
|
|
CA372580889 rs1588586644 |
556 | Q>L | No |
ClinGen Ensembl |
|
|
rs11539689 CA187647899 |
557 | G>D | No |
Ensembl ClinGen |
|
|
CA372580861 rs11539689 |
557 | G>V | No |
ClinGen Ensembl |
|
|
CA372580845 rs1464020951 |
558 | H>Q | No |
TOPMed ClinGen |
|
|
CA372580814 rs1350547950 |
560 | Q>P | No |
ClinGen TOPMed |
|
|
CA4935583 rs1554836704 |
561 | V>L | No |
ClinGen gnomAD |
|
|
CA4935529 rs782576118 |
565 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588586595 CA372580713 |
565 | Q>R | No |
ClinGen Ensembl |
|
|
rs907074058 CA4935582 |
568 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA372580664 rs1280541456 |
568 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA372580655 rs1316540693 |
569 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA4935581 rs1045629687 |
569 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA372580645 rs1218596271 |
570 | R>C | No |
ClinGen TOPMed |
|
|
CA372580642 rs1271596884 |
570 | R>H | No |
ClinGen TOPMed |
|
|
rs993784537 CA4935580 |
572 | Q>E | No |
TOPMed ClinGen |
|
|
rs1223205448 CA372580565 |
574 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs896868551 CA187647869 |
574 | P>S | No |
Ensembl ClinGen |
|
|
CA372580553 rs1588586505 |
575 | F>C | No |
ClinGen Ensembl |
|
|
rs1588586505 CA372580554 |
575 | F>S | No |
Ensembl ClinGen |
|
|
rs1194057097 CA372580550 |
576 | R>C | No |
TOPMed ClinGen |
|
|
CA4935579 rs1265107096 |
576 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA372580523 rs1476763702 |
577 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs782805509 CA4935526 |
577 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1554836680 CA372580490 |
579 | H>D | No |
gnomAD ClinGen |
|
|
CA372580474 rs1407153535 |
580 | G>R | No |
ClinGen TOPMed |
|
|
rs941144237 CA187647835 |
581 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA187647833 rs910989731 |
584 | R>Q | No |
ClinGen TOPMed |
|
|
CA187647823 rs1050327574 |
586 | A>T | No |
ClinGen TOPMed |
|
|
CA372580339 rs1338905052 |
589 | P>S | No |
ClinGen TOPMed |
|
|
CA4935577 rs1285287817 |
591 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs922811861 CA4935578 |
591 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4935523 rs782726657 |
594 | L>M | No |
ExAC gnomAD ClinGen |
|
|
rs1229516583 CA372580254 |
597 | A>V | No |
ClinGen TOPMed |
|
|
CA187647779 rs915274422 |
600 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1287824983 CA372580225 |
600 | R>H | No |
TOPMed ClinGen |
|
|
CA4935521 rs781924844 |
602 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1237949708 CA372580199 |
603 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA372580179 rs1588586345 |
605 | Y>S | No |
Ensembl ClinGen |
|
|
rs1554836656 CA372580162 |
606 | H>Q | No |
gnomAD ClinGen |
|
|
CA372580159 rs1554836655 |
607 | L>V | No |
gnomAD ClinGen |
|
|
CA372580143 rs1554836654 |
609 | R>C | No |
gnomAD ClinGen |
|
|
CA372580139 rs1180137340 |
609 | R>H | No |
TOPMed ClinGen |
|
|
CA372580110 rs1440479315 |
612 | L>V | No |
TOPMed ClinGen |
|
|
CA372580102 rs1358929175 |
613 | T>P | No |
TOPMed ClinGen |
|
|
CA372580089 rs1400485492 |
614 | K>R | No |
TOPMed ClinGen |
|
|
rs1554836653 CA372580042 |
619 | N>S | No |
ClinGen gnomAD |
|
|
CA372580030 rs1335332244 |
620 | C>Y | No |
TOPMed ClinGen |
|
|
CA187647754 rs971287344 |
622 | W>L | No |
ClinGen gnomAD |
|
|
CA372579943 rs1554836649 |
627 | A>V | No |
gnomAD ClinGen |
|
|
CA372579923 rs1351110219 |
629 | H>Q | No |
TOPMed ClinGen |
|
|
rs1311000250 CA372579930 |
629 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA372579907 rs1588586202 |
631 | A>S | No |
Ensembl ClinGen |
|
|
CA372579842 rs1308739869 |
634 | N>S | No |
ClinGen TOPMed |
|
| rs1564593509 | 634 | N>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250384349 CA372579833 |
635 | V>I | No |
TOPMed ClinGen |
|
|
CA372579822 rs1554836552 |
636 | I>F | No |
ClinGen gnomAD |
|
|
CA372579795 rs1201256236 |
638 | G>V | No |
ClinGen TOPMed |
|
|
CA372579767 rs1480031585 |
641 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA372579725 rs1421646416 |
644 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 648 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372579631 rs1554836546 |
652 | S>Y | No |
ClinGen gnomAD |
|
|
CA372579600 rs1301601269 |
655 | P>L | No |
ClinGen TOPMed |
|
|
rs1365361518 CA372579590 |
656 | Y>C | No |
ClinGen TOPMed |
|
|
rs1554836544 CA372579584 |
657 | R>G | No |
ClinGen gnomAD |
|
|
CA187647559 rs1024123821 |
658 | M>T | No |
ClinGen TOPMed |
|
|
rs1360542857 CA372579556 |
659 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 660 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 660 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372579510 rs1214995223 |
661 | H>Q | No |
TOPMed ClinGen |
|
|
CA372579515 rs1445141610 |
661 | H>R | No |
TOPMed ClinGen |
|
|
rs1554836526 CA372579507 |
662 | H>D | No |
gnomAD ClinGen |
|
|
rs1238035534 CA372579505 |
662 | H>P | No |
ClinGen TOPMed |
|
|
CA372579323 rs1160618575 |
673 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1160618575 CA372579326 |
673 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1242738246 CA372579337 |
673 | P>S | No |
TOPMed ClinGen |
|
|
rs1177420424 CA372579307 |
674 | R>Q | No |
TOPMed ClinGen |
|
|
rs1400576650 CA372579317 |
674 | R>W | No |
ClinGen TOPMed |
|
|
rs1588585201 CA372579299 |
675 | Y>D | No |
ClinGen Ensembl |
|
|
CA372579281 rs1408992976 |
676 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
CA372579236 rs1334146033 |
679 | A>V | No |
TOPMed ClinGen |
|
|
CA187647521 rs900936114 |
682 | S>L | No |
Ensembl ClinGen |
|
|
rs945529500 CA187647518 |
684 | D>E | No |
ClinGen TOPMed |
|
|
CA372579185 rs1223071954 |
684 | D>N | No |
TOPMed ClinGen |
|
|
CA372579169 rs1325650170 |
685 | G>S | No |
TOPMed ClinGen |
|
|
CA372579130 rs1242644803 |
688 | I>V | No |
TOPMed ClinGen |
|
|
CA372579123 rs1184269097 |
689 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs1469917957 CA372579085 |
693 | M>V | No |
TOPMed ClinGen |
|
|
CA372579000 rs1588584745 |
697 | D>A | No |
Ensembl ClinGen |
|
| TCGA novel | 697 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs972503093 CA187647454 |
698 | L>F | No |
Ensembl ClinGen |
|
|
rs1271495767 CA372578970 |
699 | L>P | No |
TOPMed ClinGen |
|
|
rs961203664 CA187647450 |
706 | P>L | No |
TOPMed ClinGen |
|
|
rs1016799944 CA187647449 |
707 | V>I | No |
TOPMed ClinGen |
|
|
CA372578872 rs1169196999 |
708 | K>E | No |
TOPMed ClinGen |
|
|
CA372578869 rs1393813872 |
708 | K>R | No |
ClinGen TOPMed |
|
|
rs1303462776 CA372578834 |
711 | K>E | No |
ClinGen TOPMed |
|
|
CA187647448 rs984094886 |
714 | V>M | No |
TOPMed ClinGen |
|
| TCGA novel | 717 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953826050 CA187647445 |
717 | R>Q | No |
TOPMed ClinGen |
|
| TCGA novel | 718 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 722 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588584575 CA372578726 |
723 | D>A | No |
Ensembl ClinGen |
|
|
rs1027960484 CA187647434 |
724 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs998278508 CA187647430 |
725 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 726 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588584523 CA372578681 |
726 | F>S | No |
ClinGen Ensembl |
|
|
rs1588584509 CA372578667 |
727 | H>P | No |
Ensembl ClinGen |
|
| TCGA novel | 729 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372578644 rs1588584491 |
729 | T>P | No |
Ensembl ClinGen |
|
|
rs1294290278 CA372578597 |
731 | P>L | No |
TOPMed ClinGen |
|
| TCGA novel | 737 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1020723782 CA372578450 CA187647423 |
740 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA372578402 rs1163815972 |
743 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 743 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q14137
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| PeBoW complex | A protein complex that is involved in coordinating ribosome biogenesis with cell cycle progression. In human, it is composed of Pes1, Bop1, and WDR12; in Saccharomyces the proteins are known as Nop7p, Erb1 and Ytm1 respectively. |
| preribosome, large subunit precursor | A preribosomal complex consisting of 27SA, 27SB, and/or 7S pre-rRNA, 5S rRNA, ribosomal proteins including late-associating large subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic large ribosomal subunit. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ribonucleoprotein complex binding | Binding to a complex of RNA and protein. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Endonucleolytic cleavage within ITS2 between the 5.8S rRNA and the LSU-rRNA of an rRNA molecule originally produced as a tricistronic rRNA transcript that contained the Small SubUnit (SSU) rRNA, the 5.8S rRNA, and the Large SubUnit (LSU) rRNA, in that order, from 5' to 3' along the primary transcript. |
| maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and Large Subunit (LSU) in that order from 5' to 3' along the primary transcript. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator. |
| ribosomal large subunit assembly | The aggregation, arrangement and bonding together of constituent RNAs and proteins to form the large ribosomal subunit. |
| ribosome biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04660 | ERB1 | Ribosome biogenesis protein ERB1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q7K0Y1 | CG5033 | Ribosome biogenesis protein BOP1 homolog | Drosophila melanogaster (Fruit fly) | PR |
| P97452 | Bop1 | Ribosome biogenesis protein BOP1 | Mus musculus (Mouse) | PR |
| Q562C2 | Bop1 | Ribosome biogenesis protein BOP1 | Rattus norvegicus (Rat) | PR |
| Q9U2A9 | Y48B6A.1 | Ribosome biogenesis protein BOP1 homolog | Caenorhabditis elegans | PR |
| A0JMQ0 | bop1 | Ribosome biogenesis protein bop1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGSRGAGRT | AAPSVRPEKR | RSEPELEPEP | EPEPPLLCTS | PLSHSTGSDS | GVSDSEESVF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGLEDSGSDS | SEDDDEGDEE | GEDGALDDEG | HSGIKKTTEE | QVQASTPCPR | TEMASARIGD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EYAEDSSDEE | DIRNTVGNVP | LEWYDDFPHV | GYDLDGRRIY | KPLRTRDELD | QFLDKMDDPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YWRTVQDPMT | GRDLRLTDEQ | VALVRRLQSG | QFGDVGFNPY | EPAVDFFSGD | VMIHPVTNRP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ADKRSFIPSL | VEKEKVSRMV | HAIKMGWIQP | RRPRDPTPSF | YDLWAQEDPN | AVLGRHKMHV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PAPKLALPGH | AESYNPPPEY | LLSEEERLAW | EQQEPGERKL | SFLPRKFPSL | RAVPAYGRFI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QERFERCLDL | YLCPRQRKMR | VNVDPEDLIP | KLPRPRDLQP | FPTCQALVYR | GHSDLVRCLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VSPGGQWLVS | GSDDGSLRLW | EVATARCVRT | VPVGGVVKSV | AWNPSPAVCL | VAAAVEDSVL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LLNPALGDRL | VAGSTDQLLS | AFVPPEEPPL | QPARWLEASE | EERQVGLRLR | ICHGKPVTQV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TWHGRGDYLA | VVLATQGHTQ | VLIHQLSRRR | SQSPFRRSHG | QVQRVAFHPA | RPFLLVASQR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SVRLYHLLRQ | ELTKKLMPNC | KWVSSLAVHP | AGDNVICGSY | DSKLVWFDLD | LSTKPYRMLR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HHKKALRAVA | FHPRYPLFAS | GSDDGSVIVC | HGMVYNDLLQ | NPLLVPVKVL | KGHVLTRDLG |
| 730 | 740 | ||||
| VLDVIFHPTQ | PWVFSSGADG | TVRLFT |