Q8WTT2
PR
Gene name |
NOC3L (AD24, C10orf117, FAD24) |
Protein name |
Nucleolar complex protein 3 homolog |
Names |
Blood dendritic cell antigen 2, BDCA-2, C-type lectin superfamily member 7, Dendritic lectin, NOC3 protein homolog, Factor for adipocyte differentiation 24, NOC3-like protein, Nucleolar complex-associated protein 3-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64318 |
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
5 structures for Q8WTT2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8FKV | EM | 247 A | SU | 1-800 | PDB |
| 8FKW | EM | 250 A | SU | 1-800 | PDB |
| 8FKX | EM | 259 A | SU | 1-800 | PDB |
| 8FKY | EM | 267 A | SU | 1-800 | PDB |
| AF-Q8WTT2-F1 | Predicted | AlphaFoldDB |
616 variants for Q8WTT2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5614535 rs746618841 |
2 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1206479512 CA377656065 |
2 | K>N | No |
ClinGen TOPMed |
|
|
rs374022270 CA5614534 |
3 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1390183487 CA377655574 |
5 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1162409867 CA377655567 |
6 | N>D | No |
ClinGen gnomAD |
|
|
CA377655515 rs1382494108 |
9 | Q>L | No |
ClinGen Ensembl |
|
| TCGA novel | 9 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5614510 rs777752753 |
12 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs753022530 CA5614508 COSM428173 |
14 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5614507 rs781574865 |
14 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs781574865 CA377655444 |
14 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA377655445 rs781574865 |
14 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1033077659 CA211608284 |
17 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1033077659 CA377655414 |
17 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5614506 rs545895087 |
18 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377655393 rs1165854743 |
19 | T>A | No |
ClinGen TOPMed |
|
|
rs766720742 CA5614504 |
20 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238401554 CA377655344 |
22 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA377655322 rs1326608214 |
24 | L>F | No |
ClinGen gnomAD |
|
|
CA211608275 rs967362345 |
25 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763421415 CA5614503 |
30 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5614502 rs750913416 |
31 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs200635284 CA5614500 |
32 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5614499 rs774923558 |
33 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1430590227 CA377655111 |
34 | K>R | No |
ClinGen TOPMed |
|
|
rs1440880799 CA377655014 |
39 | L>F | No |
ClinGen gnomAD |
|
|
rs770726367 CA5614494 |
42 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA377654924 rs77771649 |
43 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5614493 rs77771649 |
43 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377654920 rs1453385822 COSM3808053 |
44 | K>E | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs140289143 CA5614492 |
45 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1290695412 CA377654903 |
45 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5614491 rs147842178 |
46 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377654845 rs1229978825 |
48 | K>E | No |
ClinGen gnomAD |
|
|
CA5614487 rs201461353 |
52 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377654776 rs1161686953 |
53 | V>M | No |
ClinGen TOPMed |
|
|
CA377654758 rs1400598550 |
55 | D>G | No |
ClinGen gnomAD |
|
|
rs1323652584 CA377654762 |
55 | D>N | No |
ClinGen gnomAD |
|
|
rs747236183 CA5614486 |
56 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5614485 rs187762184 |
58 | S>C | No |
ClinGen 1000Genomes ExAC |
|
|
rs1162065225 CA377654700 |
59 | K>E | No |
ClinGen gnomAD |
|
|
CA377654689 rs1429093744 |
59 | K>N | No |
ClinGen gnomAD |
|
|
rs1473107379 CA377654696 |
59 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377654657 rs750949535 |
61 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750949535 CA5614483 |
61 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377654584 rs1235056232 |
65 | E>D | No |
ClinGen gnomAD |
|
|
rs1415986594 CA377654571 |
66 | N>I | No |
ClinGen TOPMed |
|
|
CA5614481 rs144517184 |
67 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5614480 rs752226656 |
69 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs970981043 CA211608162 |
71 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759225017 CA5614478 |
71 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349266461 CA377654452 |
72 | P>L | No |
ClinGen TOPMed |
|
|
CA5614453 rs766056046 |
73 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766056046 CA5614452 |
73 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5614451 rs201609399 |
76 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs992713034 CA211605427 |
78 | R>K | No |
ClinGen Ensembl |
|
|
rs1384610313 CA377653720 |
79 | E>Q | No |
ClinGen TOPMed |
|
|
rs1180090625 CA377653610 |
82 | E>K | No |
ClinGen gnomAD |
|
|
CA5614447 rs140253386 |
84 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs959825076 CA211605418 |
84 | E>G | No |
ClinGen Ensembl |
|
|
CA211605400 rs780294140 |
85 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200464023 CA211605398 |
87 | L>H | No |
ClinGen Ensembl |
|
|
rs1259745719 CA377653421 |
88 | P>L | No |
ClinGen TOPMed |
|
|
CA5614445 rs201542910 |
89 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1481885287 CA377653398 |
90 | D>H | No |
ClinGen gnomAD |
|
|
CA5614442 rs535959943 |
91 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA377653379 rs1256281483 |
91 | M>L | No |
ClinGen TOPMed |
|
|
rs775366384 CA5614443 |
91 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1181690598 CA377653239 |
98 | Q>* | No |
ClinGen TOPMed |
|
|
rs890686974 CA211605368 |
101 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5614439 rs746055344 |
102 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148216421 CA5614438 |
105 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1435187760 CA377652980 |
106 | R>T | No |
ClinGen Ensembl |
|
|
rs771279495 CA5614436 |
107 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 107 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749849997 CA377652905 |
108 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749849997 CA5614435 |
108 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 114 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211605339 rs755724668 |
117 | S>G | No |
ClinGen Ensembl |
|
|
CA211605336 rs1021311982 |
117 | S>N | No |
ClinGen Ensembl |
|
|
CA211605345 rs755724668 |
117 | S>R | No |
ClinGen Ensembl |
|
|
CA377652239 rs1331651167 |
118 | E>* | No |
ClinGen gnomAD |
|
|
CA5614408 rs45484894 |
119 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5614407 rs560721126 |
121 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs116919128 CA5614406 |
122 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1329583183 CA377652215 |
122 | A>T | No |
ClinGen gnomAD |
|
|
CA5614405 rs116919128 |
122 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5614404 rs756116201 |
124 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs145521001 CA211604540 |
125 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5614402 rs113740928 |
125 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145521001 CA5614403 |
125 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5614401 rs759623300 |
126 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5614400 rs774345474 |
127 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA377652176 rs1177845099 |
128 | E>G | No |
ClinGen gnomAD |
|
|
CA5614399 rs746293694 |
129 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763109129 CA5614398 COSM198871 |
129 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763109129 CA377652169 |
129 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763109129 CA377652170 |
129 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377652171 rs746293694 |
129 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773620093 CA5614397 |
130 | I>S | No |
ClinGen ExAC |
|
|
rs1187168939 CA377652167 |
130 | I>V | No |
ClinGen gnomAD |
|
|
CA5614393 rs544357210 |
131 | I>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377652159 rs1203406403 |
131 | I>M | No |
ClinGen gnomAD |
|
|
rs544357210 CA5614394 |
131 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748758791 CA5614395 |
131 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5614392 rs745376679 |
132 | D>N | No |
ClinGen ExAC |
|
|
rs778527655 CA5614391 |
132 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377652148 rs1257977641 |
133 | K>R | No |
ClinGen gnomAD |
|
|
rs780678490 CA377652139 CA5614385 |
134 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
CA5614383 rs761635732 |
134 | Y>* | No |
ClinGen ExAC |
|
|
rs75781612 CA5614386 |
134 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61729390 CA377652132 |
135 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1295498970 CA377652127 |
136 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5614381 rs767356970 |
138 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5614380 rs767356970 |
138 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA377652094 rs1564918133 |
139 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 139 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751658073 CA5614378 |
140 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751658073 CA5614379 |
140 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs376443483 CA211604353 |
141 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376443483 CA5614377 |
141 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1395207798 CA377652033 |
142 | Q>R | No |
ClinGen gnomAD |
|
|
CA5614376 rs763205148 |
143 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1304214449 CA377651983 |
145 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388946691 CA377651923 |
147 | K>M | No |
ClinGen gnomAD |
|
|
CA377651883 rs1564918121 |
148 | E>A | No |
ClinGen Ensembl |
|
|
rs141507902 CA211604309 |
148 | E>K | No |
ClinGen ESP |
|
|
CA377651826 rs1325299312 |
151 | H>D | No |
ClinGen TOPMed |
|
|
CA5614373 rs762099652 |
155 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs895155342 CA211604265 |
157 | D>G | No |
ClinGen TOPMed |
|
|
CA377651641 rs1187540945 |
158 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA377651650 rs1405817951 |
158 | K>R | No |
ClinGen TOPMed |
|
|
CA5614372 rs776987827 |
159 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5614371 rs553109310 |
159 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs369586078 CA5614369 |
160 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5614368 rs76633367 |
161 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372206733 CA5614366 |
164 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs769417548 CA5614365 |
165 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747922964 CA5614364 |
165 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA377651390 rs1339374774 |
166 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5614362 rs146141166 |
168 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751471310 CA5614361 |
168 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA211604226 rs368982775 |
169 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5614360 rs368982775 |
169 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs992307530 CA211603518 |
171 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5614344 rs747811579 |
172 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs780892827 CA5614343 |
174 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs768437443 CA5614342 |
175 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759218090 CA5614340 |
176 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050794593 CA211603505 |
179 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 180 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184527885 CA377650718 |
181 | E>K | No |
ClinGen gnomAD |
|
|
rs758266604 CA5614337 |
183 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs1246148030 CA377650648 |
183 | E>V | No |
ClinGen gnomAD |
|
|
rs750500111 CA5614334 |
184 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1305114647 CA377650616 |
184 | R>T | No |
ClinGen gnomAD |
|
|
rs1291924714 CA377650604 |
185 | E>K | No |
ClinGen gnomAD |
|
|
rs757470392 CA5614331 |
188 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs779003344 CA5614332 |
188 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778900666 CA5614311 |
189 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5614309 rs749266758 |
191 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5614307 VAR_023549 rs12572897 |
194 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs12572897 CA377649326 |
194 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs906176449 CA211602159 |
196 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753130881 CA5614306 |
199 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA377649182 rs1207512651 |
200 | I>T | No |
ClinGen gnomAD |
|
|
rs372269619 CA5614305 |
200 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377649142 rs1443805215 |
202 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1280363453 CA377649123 |
203 | H>Y | No |
ClinGen gnomAD |
|
|
CA377649079 rs1339533112 |
205 | I>T | No |
ClinGen gnomAD |
|
|
rs868376822 CA211602103 |
207 | R>K | No |
ClinGen Ensembl |
|
|
CA5614302 rs764714535 |
208 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 209 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211602086 rs761404205 |
211 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211602085 rs368362912 |
212 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs1483979992 CA377648886 |
214 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1252401559 CA377648875 |
215 | K>M | No |
ClinGen gnomAD |
|
|
CA5614299 rs776056173 |
218 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377648776 rs1473134505 |
226 | L>V | No |
ClinGen TOPMed |
|
|
CA377648768 rs1162747109 |
227 | S>P | No |
ClinGen TOPMed |
|
|
CA377648763 rs1412215904 |
228 | D>N | No |
ClinGen TOPMed |
|
|
rs138770211 CA5614297 |
229 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753369678 CA5614281 |
233 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA377647880 rs1441145398 |
233 | I>M | No |
ClinGen TOPMed |
|
|
rs1487901535 CA377647882 |
233 | I>T | No |
ClinGen gnomAD |
|
|
rs753369678 CA377647885 |
233 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5614280 rs763573169 |
235 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370897064 CA5614279 |
237 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5614278 rs150224263 |
238 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5614277 rs140247215 |
240 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM921699 CA211600480 rs989221465 |
240 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs989221465 CA377647833 |
240 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs370275584 CA5614276 |
241 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370275584 CA377647828 |
241 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1031350079 CA211600457 |
242 | M>I | No |
ClinGen Ensembl |
|
|
rs773976870 CA5614275 |
242 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770922800 CA5614274 |
243 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs762956958 CA5614273 |
244 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1443036844 CA377647801 |
245 | E>A | No |
ClinGen gnomAD |
|
|
rs1291650074 CA377647806 |
245 | E>K | No |
ClinGen gnomAD |
|
|
CA211600446 rs952120825 |
246 | Q>K | No |
ClinGen TOPMed |
|
|
rs773461571 CA5614272 |
246 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5614271 rs769986236 |
247 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5614269 rs552464960 |
250 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA211600421 rs968353618 |
251 | A>T | No |
ClinGen Ensembl |
|
|
rs761111082 CA211600420 |
252 | V>F | No |
ClinGen Ensembl |
|
|
CA5614268 rs781493791 |
252 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA377646674 rs1159456428 |
255 | R>* | No |
ClinGen gnomAD |
|
|
COSM1168711 rs768698240 CA5614267 |
255 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1193368290 CA377646572 |
258 | V>A | No |
ClinGen gnomAD |
|
|
rs1193368290 CA377646569 |
258 | V>G | No |
ClinGen gnomAD |
|
|
CA5614266 rs191146617 |
258 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377646560 rs1247750521 |
259 | I>V | No |
ClinGen gnomAD |
|
|
CA377646528 rs1257996266 |
261 | S>F | No |
ClinGen gnomAD |
|
|
rs1564915887 CA377646518 |
262 | L>V | No |
ClinGen Ensembl |
|
|
CA5614264 rs758954884 |
264 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA211600354 rs376369982 |
269 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA211600360 rs993341190 |
269 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5614262 rs777333728 |
270 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM921698 rs1368371608 CA377646293 |
276 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM198867 rs755632259 CA5614261 |
276 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1432619866 CA377646277 |
279 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 282 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211600315 rs1004967406 |
285 | T>A | No |
ClinGen gnomAD |
|
|
CA5614243 rs746433275 |
287 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5614241 rs147826125 |
288 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147826125 CA5614242 |
288 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5614240 rs752273305 |
288 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5614238 rs754695047 |
292 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1189003032 CA377646160 |
295 | R>G | No |
ClinGen gnomAD |
|
|
rs1482732113 CA377646157 |
295 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5614236 rs766250914 |
296 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5614235 rs762852859 |
300 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5614234 rs750178870 |
301 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377646088 rs1294736181 |
305 | Y>S | No |
ClinGen gnomAD |
|
|
CA377646082 rs1349287131 |
306 | K>E | No |
ClinGen gnomAD |
|
|
CA377646079 rs1305678340 |
306 | K>R | No |
ClinGen gnomAD |
|
|
CA377646053 rs1163250164 |
309 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 309 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456712473 CA377646046 |
310 | E>D | No |
ClinGen gnomAD |
|
|
rs1420481573 CA377646036 |
312 | L>M | No |
ClinGen gnomAD |
|
|
rs149765870 CA5614230 |
313 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377646020 rs1249662210 |
314 | Q>R | No |
ClinGen gnomAD |
|
|
CA377646012 rs1262134080 |
315 | M>T | No |
ClinGen TOPMed |
|
|
rs1589574554 CA377645993 |
318 | D>N | No |
ClinGen Ensembl |
|
|
rs1377142103 CA377660363 |
319 | W>* | No |
ClinGen gnomAD |
|
|
CA377660368 rs1370016984 |
319 | W>* | No |
ClinGen gnomAD |
|
|
rs765106551 CA5614214 |
320 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757259997 CA5614213 |
320 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5614211 rs753715490 |
326 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs764293679 CA5614210 |
327 | S>N | No |
ClinGen ExAC |
|
|
rs142305111 CA5614208 |
328 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200822762 CA211631082 |
333 | K>Q | No |
ClinGen 1000Genomes |
|
|
CA211631075 rs376327743 |
335 | Y>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs771277270 CA5614203 |
335 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA377660170 rs1253656517 |
336 | K>R | No |
ClinGen gnomAD |
|
|
rs749860528 CA5614202 |
337 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs770266739 CA5614200 |
341 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142493625 CA5614197 |
342 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM176188 rs142493625 CA5614198 |
342 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5614195 rs778919723 |
344 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA211631044 rs1033603526 |
345 | S>T | No |
ClinGen TOPMed |
|
|
CA5614194 rs756990751 CA377660099 |
346 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756027851 CA5614191 |
355 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA377659998 rs1240158599 |
356 | F>I | No |
ClinGen gnomAD |
|
|
CA5614190 rs372992260 |
361 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296332337 CA377659891 |
364 | V>A | No |
ClinGen TOPMed |
|
|
CA5614187 rs368849782 |
364 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1387325301 CA377659873 |
366 | I>T | No |
ClinGen TOPMed |
|
|
CA211631011 rs995795213 |
367 | V>A | No |
ClinGen TOPMed |
|
|
rs149695235 CA5614184 |
370 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377659747 rs1246006069 |
373 | M>L | No |
ClinGen gnomAD |
|
|
rs1246006069 CA377659752 |
373 | M>V | No |
ClinGen gnomAD |
|
|
CA377659717 rs1340077231 |
374 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1431986051 CA377659724 |
374 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377659708 rs1436661280 |
375 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5614183 rs773588916 |
376 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1412802760 CA377659282 |
377 | I>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1460937629 CA377659276 |
377 | I>M | No |
ClinGen TOPMed |
|
|
rs1412802760 CA377659284 |
377 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 377 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA211630647 rs999913318 |
378 | S>F | No |
ClinGen TOPMed |
|
|
rs766538492 CA5614166 |
378 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253320140 CA377659260 |
379 | E>G | No |
ClinGen TOPMed |
|
|
CA211630645 rs967068730 |
381 | C>S | No |
ClinGen TOPMed |
|
|
rs911141850 CA211630641 |
382 | C>Y | Variant assessed as Somatic; 4.789e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5614165 rs763188183 |
387 | K>E | No |
ClinGen ExAC |
|
|
CA211630633 rs985347956 |
390 | K>Q | No |
ClinGen Ensembl |
|
|
rs1479406814 CA377659136 |
391 | Q>E | No |
ClinGen gnomAD |
|
|
CA5614164 rs750803642 |
392 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750803642 CA377659120 |
392 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377659080 rs1205844661 |
396 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377659039 rs1235326354 |
400 | G>A | No |
ClinGen gnomAD |
|
|
CA5614162 rs762480681 |
403 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs777269159 CA5614161 |
405 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769230513 CA5614160 |
409 | V>L | No |
ClinGen ExAC |
|
|
CA377658940 rs1009852562 |
411 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA211630618 rs1009852562 |
411 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1449875367 CA377658923 |
413 | N>Y | No |
ClinGen TOPMed |
|
|
rs1246991600 CA377658916 |
414 | Y>H | No |
ClinGen gnomAD |
|
|
CA5614158 rs77146582 |
415 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5614157 rs77146582 |
415 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748936341 CA5614156 |
416 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1158053327 CA377658875 |
418 | P>S | No |
ClinGen gnomAD |
|
|
CA377658356 rs764732288 |
422 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs780830188 | 425 | L>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175709285 CA377658287 |
428 | R>G | No |
ClinGen TOPMed |
|
|
CA5614134 rs367908588 |
428 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770944651 CA211629716 |
428 | R>T | No |
ClinGen Ensembl |
|
|
CA5614133 rs773770602 |
429 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5614132 rs765905552 |
430 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5614131 rs747150583 |
432 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772930540 CA5614130 |
434 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5614129 rs769369618 |
438 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs747966286 CA5614128 |
442 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5614126 rs143037759 |
443 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377658099 rs545513630 |
444 | P>A | No |
ClinGen 1000Genomes |
|
|
rs11187895 CA377658097 |
444 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs11187895 CA5614125 VAR_048621 |
444 | P>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs545513630 CA211629688 |
444 | P>S | No |
ClinGen 1000Genomes |
|
| TCGA novel | 446 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377658077 rs1236428918 |
447 | F>C | No |
ClinGen gnomAD |
|
|
rs1564912957 CA377658080 |
447 | F>I | No |
ClinGen Ensembl |
|
|
rs1236428918 CA377658075 |
447 | F>Y | No |
ClinGen gnomAD |
|
|
CA5614123 rs780065168 |
448 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA377658067 rs1205663286 |
448 | M>T | No |
ClinGen TOPMed |
|
|
CA377658061 rs1589570583 |
449 | T>I | No |
ClinGen Ensembl |
|
|
CA377658053 CA5614121 rs374038313 |
450 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 450 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377658055 rs1437525745 |
450 | F>S | No |
ClinGen TOPMed |
|
|
CA5614122 rs758495783 |
450 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 454 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757516709 COSM1297522 CA5614118 |
456 | S>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5614119 rs779204281 |
456 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA211629664 rs966079595 |
457 | L>Q | No |
ClinGen Ensembl |
|
|
CA5614117 rs754301738 |
457 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 458 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1018586159 CA211629663 |
461 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs760527376 CA5614087 |
467 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1334668702 CA377657781 |
472 | E>* | No |
ClinGen gnomAD |
|
|
rs3758526 VAR_023550 CA5614086 |
472 | E>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5614085 rs141399172 |
473 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5614084 rs759357463 |
473 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211629152 rs890331582 |
474 | E>D | No |
ClinGen Ensembl |
|
|
CA377657769 rs1453302631 |
474 | E>G | No |
ClinGen Ensembl |
|
|
CA5614083 rs774636660 |
476 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771117489 CA5614082 |
476 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5614081 rs749318721 |
477 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs12253220 CA211629142 |
479 | E>K | No |
ClinGen Ensembl |
|
|
rs1179505512 CA377657727 |
481 | S>L | No |
ClinGen gnomAD |
|
|
CA5614079 rs769866914 |
481 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs781388297 CA5614077 |
482 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5614076 rs755551175 |
483 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752007218 CA5614075 |
483 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1347284504 CA377657712 |
484 | T>A | No |
ClinGen gnomAD |
|
|
CA211629122 rs993282280 |
485 | E>G | No |
ClinGen Ensembl |
|
|
rs778452495 CA377657699 |
486 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778452495 CA5614074 |
486 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377657688 rs1274589884 |
487 | K>I | No |
ClinGen gnomAD |
|
|
rs1349276835 CA377657683 |
488 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1430513691 CA377657641 |
492 | T>I | No |
ClinGen gnomAD |
|
|
rs947597612 CA211628946 |
493 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs748820723 CA5614053 |
494 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5614051 rs375922420 |
496 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377657611 rs1184881555 |
497 | I>S | No |
ClinGen gnomAD |
|
|
rs914754735 CA211628927 |
502 | Y>C | No |
ClinGen Ensembl |
|
|
CA211628926 rs544898391 |
503 | F>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs11187892 CA211628925 VAR_048622 |
504 | R>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1172883815 CA377657548 |
507 | K>E | No |
ClinGen gnomAD |
|
|
rs1307395008 CA377657544 |
507 | K>T | No |
ClinGen TOPMed |
|
|
rs148299165 CA5614049 |
508 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5614048 rs754730649 |
511 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA377657518 rs754730649 |
511 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1213446283 CA377657505 |
513 | P>R | No |
ClinGen TOPMed |
|
|
CA5614047 rs533523491 |
513 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766442087 CA5614046 |
514 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376056680 CA5614045 |
516 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209301934 CA377657475 |
519 | L>V | No |
ClinGen gnomAD |
|
|
CA5614043 rs765229962 |
521 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868563296 CA211628889 |
523 | A>V | No |
ClinGen Ensembl |
|
|
CA211628886 rs988063111 |
524 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1275590664 CA377657164 |
526 | A>S | No |
ClinGen gnomAD |
|
|
rs750374787 CA5614025 |
527 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5614023 rs761803586 |
532 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA377657121 rs1235215353 |
532 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 532 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402995786 CA377657124 |
532 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 534 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371775395 CA5614020 |
535 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5614022 rs776733777 |
535 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277526796 CA377657076 |
539 | V>L | No |
ClinGen gnomAD |
|
|
rs760868470 CA5614019 |
542 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775876279 CA5614017 |
544 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5614016 rs568428937 |
548 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 549 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5613967 rs777625769 |
549 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367852175 CA377656637 |
551 | S>G | No |
ClinGen gnomAD |
|
|
rs142474809 CA5613966 |
551 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5613965 rs752729590 |
552 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767745666 CA5613964 |
553 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1183449458 CA377656593 |
554 | E>G | No |
ClinGen TOPMed |
|
|
CA377656600 rs1159731483 |
554 | E>K | No |
ClinGen gnomAD |
|
|
rs1434679697 CA377656586 |
555 | S>G | No |
ClinGen gnomAD |
|
|
CA377656571 rs1393845598 |
556 | L>F | No |
ClinGen gnomAD |
|
|
rs548119441 CA5613963 |
557 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377656554 rs548119441 |
557 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534325074 CA5613961 |
564 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA211626761 rs1013292428 |
565 | I>N | No |
ClinGen TOPMed |
|
|
CA5613960 rs763427392 |
569 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA377656395 rs770359023 |
570 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5613958 rs770359023 |
570 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268427791 CA377656308 |
574 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 575 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5613939 rs762388634 |
577 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377656246 rs1449995936 |
579 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 579 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377656214 rs1374498420 |
581 | Y>* | No |
ClinGen TOPMed |
|
|
rs953129678 CA211626644 |
581 | Y>S | No |
ClinGen TOPMed |
|
|
CA377656160 rs1232141910 |
585 | Y>C | No |
ClinGen gnomAD |
|
|
rs770446093 CA5613933 |
587 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774070379 CA5613934 |
587 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5613932 rs749127788 |
588 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377656115 rs772965885 |
592 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA5613931 rs772965885 |
592 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA211626616 rs201551022 |
592 | H>Y | No |
ClinGen Ensembl |
|
|
rs769762576 CA5613930 |
593 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1238584060 CA377656080 |
594 | G>D | No |
ClinGen gnomAD |
|
|
CA377656077 rs1192571139 |
595 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA377656075 rs1192571139 |
595 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs142186446 CA5613909 |
595 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5613908 rs747134373 |
597 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014249264 CA211626369 |
599 | G>S | No |
ClinGen Ensembl |
|
|
rs770471620 CA211626366 |
599 | G>V | No |
ClinGen Ensembl |
|
|
CA5613907 rs779977297 COSM2157032 |
600 | V>A | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs896426172 CA211626355 |
601 | E>A | No |
ClinGen Ensembl |
|
|
rs147634769 CA5613905 |
601 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs186954592 CA5613904 |
603 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs186954592 CA5613903 |
603 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377656005 rs1354818196 |
604 | L>P | No |
ClinGen gnomAD |
|
|
rs368862439 CA377655999 |
605 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368862439 CA5613902 |
605 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5613900 rs756553998 |
607 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA377655986 rs1488688250 |
607 | L>P | No |
ClinGen TOPMed |
|
|
CA5613899 rs751118302 |
608 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564909746 CA377655963 |
610 | M>I | No |
ClinGen Ensembl |
|
|
rs1589565751 CA377655969 |
610 | M>V | No |
ClinGen Ensembl |
|
|
rs762650110 CA5613897 |
611 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5613896 rs750090052 |
612 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1297809308 CA377655949 |
613 | K>R | No |
ClinGen gnomAD |
|
|
CA377655944 rs1172757634 |
614 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5613895 COSM71860 rs149958947 |
614 | R>H | ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA211626289 rs931711886 |
620 | Q>* | No |
ClinGen TOPMed |
|
|
rs893528427 CA377655890 |
621 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377655897 rs1445869493 |
621 | Q>K | No |
ClinGen gnomAD |
|
|
CA377655888 rs1218217629 |
622 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1218217629 CA377655889 |
622 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5613893 rs776241517 |
622 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA211626276 rs902351554 |
623 | A>T | No |
ClinGen Ensembl |
|
|
CA5613892 rs768689679 |
623 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA377655871 rs1275600069 |
625 | A>D | No |
ClinGen gnomAD |
|
|
CA211626254 rs1043911414 |
625 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 625 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775709222 CA5613890 |
627 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA377655861 rs1226991359 |
627 | I>V | No |
ClinGen gnomAD |
|
|
rs772268128 CA5613889 |
629 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5613888 rs140051950 |
629 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA377655827 rs1361074037 |
632 | T>N | No |
ClinGen gnomAD |
|
|
rs779285778 CA211626233 |
634 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5613886 rs779285778 |
634 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377655804 rs1287694264 |
636 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1297521 CA211626227 rs946507893 |
636 | H>Y | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1340860578 CA377655786 |
639 | P>Q | No |
ClinGen TOPMed |
|
|
CA5613884 rs771225645 |
642 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1172763958 CA377655769 |
642 | S>R | No |
ClinGen gnomAD |
|
|
CA5613883 rs749714813 |
643 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs777965990 CA5613882 |
644 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1226000126 CA377655754 |
644 | G>C | No |
ClinGen TOPMed |
|
|
rs777965990 CA377655753 |
644 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5613880 rs753129439 |
647 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1208654457 CA377655721 |
649 | T>I | No |
ClinGen gnomAD |
|
|
rs1208654457 CA377655723 |
649 | T>N | No |
ClinGen gnomAD |
|
|
CA5613879 rs546119867 |
650 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA377655704 rs1322085099 |
652 | L>S | No |
ClinGen TOPMed |
|
|
rs1279818820 CA377655692 |
653 | M>I | No |
ClinGen gnomAD |
|
|
rs756972913 CA5613856 |
655 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs12259382 VAR_048623 CA5613857 |
655 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5613855 rs753421687 |
656 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1324883926 CA377655242 |
656 | F>Y | No |
ClinGen TOPMed |
|
|
CA5613854 rs764263288 |
657 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211625684 rs764263288 |
657 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5613853 rs79286302 |
658 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377655188 COSM686029 rs1361142161 |
660 | D>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1298205445 CA377655196 |
660 | D>N | No |
ClinGen TOPMed |
|
|
CA377655186 rs1361142161 |
660 | D>V | No |
ClinGen TOPMed |
|
|
CA5613852 rs752502012 |
661 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767607558 CA5613851 |
662 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1162063088 CA377655161 |
662 | L>P | No |
ClinGen gnomAD |
|
|
CA377655119 rs1406657360 |
666 | E>K | No |
ClinGen gnomAD |
|
|
rs1057329224 CA211625666 |
669 | G>A | No |
ClinGen Ensembl |
|
|
CA5613850 rs759511726 |
671 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274993059 CA377655063 |
671 | G>R | No |
ClinGen gnomAD |
|
|
CA211625665 rs867015247 |
673 | F>V | No |
ClinGen Ensembl |
|
|
CA377655030 rs1438170449 |
674 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs766551564 CA5613848 |
675 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA5613846 rs773308859 |
679 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA5613845 rs770017207 |
681 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1468188647 CA377654964 |
681 | E>Q | No |
ClinGen gnomAD |
|
|
CA377654945 rs1272847744 |
682 | Y>* | No |
ClinGen TOPMed |
|
|
CA211625651 rs368548385 |
684 | N>S | No |
ClinGen Ensembl |
|
|
rs776957914 CA5613843 |
685 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1467174029 CA377654909 |
686 | Q>* | No |
ClinGen TOPMed |
|
|
CA377654910 rs1467174029 |
686 | Q>E | No |
ClinGen TOPMed |
|
|
CA5613841 rs139880950 |
686 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351179017 CA377654888 |
688 | T>A | No |
ClinGen gnomAD |
|
|
rs938866977 CA211625642 |
690 | L>M | No |
ClinGen TOPMed |
|
|
CA211625641 rs977871120 |
690 | L>P | No |
ClinGen TOPMed |
|
|
CA5613840 rs17517578 VAR_048624 |
695 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs748768796 CA5613838 |
697 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs529891636 CA5613839 COSM1195122 |
697 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA5613821 rs202076103 |
698 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377654737 rs1299350874 |
699 | H>N | No |
ClinGen gnomAD |
|
|
CA5613820 rs772596049 |
699 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA211625294 rs903425983 |
700 | Y>C | No |
ClinGen Ensembl |
|
|
CA5613819 rs748775836 |
700 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1204470160 CA377654697 |
702 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 702 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178451034 CA377654675 |
704 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA211625281 rs1020899228 |
704 | V>M | No |
ClinGen Ensembl |
|
|
rs1428530190 CA377654669 |
705 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA377654616 rs1423240819 |
710 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1423240819 CA377654615 |
710 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777302547 CA5613818 |
710 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191578361 CA377654590 |
712 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5613816 rs780931270 |
713 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5613815 rs780931270 |
713 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754823287 CA5613814 |
714 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs751358670 CA5613813 |
715 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758333858 CA377654554 |
716 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758333858 CA5613811 |
716 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5613810 rs779783373 |
720 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216183017 CA377654498 COSM1217544 |
722 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs992372720 CA211625223 |
722 | A>V | No |
ClinGen TOPMed |
|
|
CA5613809 rs765355529 |
723 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1395986976 CA377654483 |
724 | K>R | No |
ClinGen gnomAD |
|
|
rs1395986976 CA377654481 |
724 | K>T | No |
ClinGen gnomAD |
|
|
CA5613806 rs368421678 |
727 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377654457 rs1257346643 |
727 | L>V | No |
ClinGen gnomAD |
|
|
rs774606414 CA211625207 |
729 | R>G | No |
ClinGen Ensembl |
|
|
rs775786615 CA5613804 |
729 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201691751 CA5613786 |
731 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211623795 rs371037526 |
732 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753878290 CA5613785 |
733 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753878290 CA5613784 |
733 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 734 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764325401 CA5613783 |
735 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA377654143 rs200196729 |
736 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200196729 CA5613782 |
736 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377654121 rs1267694922 |
738 | A>E | No |
ClinGen gnomAD |
|
|
CA377654116 rs1246195031 |
739 | Y>H | No |
ClinGen gnomAD |
|
|
CA5613780 rs377502876 |
740 | S>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs375381157 CA5613779 |
741 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377654009 rs1240394333 |
746 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs74708758 CA5613778 |
747 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs74708758 CA5613777 |
747 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776258542 CA5613775 |
748 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5613774 rs57550068 |
751 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA377653948 rs1392992389 |
751 | E>Q | No |
ClinGen gnomAD |
|
|
CA5613773 rs746655079 |
753 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA377653877 rs1467262250 |
755 | P>L | No |
ClinGen TOPMed |
|
|
rs1476824606 CA377653737 |
759 | G>V | No |
ClinGen gnomAD |
|
|
CA377653732 rs1379066515 |
760 | K>E | No |
ClinGen gnomAD |
|
|
rs1477211791 CA377653716 |
760 | K>N | No |
ClinGen gnomAD |
|
|
rs1199503467 CA377653722 |
760 | K>T | No |
ClinGen gnomAD |
|
|
CA5613753 rs771572483 |
762 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5613752 rs745704647 |
767 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 768 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278317455 CA377653510 |
769 | N>S | No |
ClinGen gnomAD |
|
|
CA377653471 rs1347386314 |
771 | D>N | No |
ClinGen gnomAD |
|
|
CA5613751 rs370227016 |
773 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749223981 CA5613749 |
773 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5613750 rs370227016 |
773 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777625287 CA377653430 |
774 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769879277 CA5613747 |
774 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs777625287 CA5613748 |
774 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5613746 rs149432582 |
775 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5613745 rs149432582 |
775 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376336354 CA5613744 |
778 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs984487255 CA211623610 |
779 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5613743 rs373890811 |
781 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377653349 rs1403816359 |
781 | S>R | No |
ClinGen gnomAD |
|
|
CA5613742 rs780553026 |
785 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1464603322 CA377653306 |
786 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5613741 rs759040493 |
787 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765780451 CA5613739 |
788 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 789 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5613738 rs142805936 |
791 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5613737 rs199966693 |
792 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5613736 rs767235942 |
796 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA211623583 rs954136768 |
798 | S>L | No |
ClinGen TOPMed |
|
|
CA5613734 rs774185927 |
799 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs150626689 CA5613732 |
800 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1445465058 CA377653029 |
800 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5613731 rs150626689 |
800 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q8WTT2
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA replication initiation | The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate. |
| fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8VI84 | Noc3l | Nucleolar complex protein 3 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKARRNKKQI | PSFRKLIKTS | KVKLENKLKN | KQFKQQSTLK | KYRKEQRKLR | QAVKDAVSKK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PIPLENPKEK | RPGKRIEREE | EEEEEALPLD | MMDEDDLQLM | KDLGQRVSFL | TRDLSSSEPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HAKKRKHERI | IDKYEKIPRT | LQTAPEKELI | HLLPIKDKSG | IIPQTREKPV | TDSNKDEEDQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEERELEEEI | IEDPIQELTI | EEHLIERKKK | LQEKKMHIAA | LASAILSDPE | NNIKKLKELR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SMLMEQDPDV | AVTVRKLVIV | SLMELFKDIT | PSYKIRPLTE | AEKSTKTRKE | TQKLREFEEG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LVSQYKFYLE | NLEQMVKDWK | QRKLKKSNVV | SLKAYKGLAE | VAVKSLCELL | VALPHFNFHN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NIIVLIVPLM | NDMSKLISEM | CCEAVKKLFK | QDKLGQASLG | VIKVISGFVK | GRNYEVRPEM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LKTFLCLRIK | EVEVKKDTED | INKPKKFMTF | KEKRKSLSRM | QRKWKKAEEK | LERELREAEA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SESTEKKLKL | HTETLNIVFV | TYFRILKKAQ | RSPLLPAVLE | GLAKFAHLIN | VEFFDDLLVV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LHTLIESGDL | SYQESLHCVQ | TAFHILSGQG | DVLNIDPLKF | YTHLYKTLFK | LHAGATNEGV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EIVLQCLDVM | LTKRRKQVSQ | QRALAFIKRL | CTLALHVLPN | SSIGILATTR | ILMHTFPKTD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LLLDSESQGS | GVFLPELDEP | EYCNAQNTAL | WELHALRRHY | HPIVQRFAAH | LIAGAPSEGS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GALKPELSRR | SATELFEAYS | MAEMTFNPPV | ESSNPKIKGK | FLQGDSFLNE | DLNQLIKRYS |
| 790 | |||||
| SEVATESPLD | FTKYLKTSLH |