Q09161
Gene name |
NCBP1 (CBP80, NCBP) |
Protein name |
Nuclear cap-binding protein subunit 1 |
Names |
80 kDa nuclear cap-binding protein, CBP80, NCBP 80 kDa subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4686 |
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
16 structures for Q09161
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1H2T | X-ray | 210 A | PDB | ||
| 1H2U | X-ray | 240 A | PDB | ||
| 1H2V | X-ray | 200 A | C | 20-790 | PDB |
| 1H6K | X-ray | 200 A | A/B/C | 20-790 | PDB |
| 1N52 | X-ray | 211 A | A | 1-790 | PDB |
| 1N54 | X-ray | 272 A | A | 1-790 | PDB |
| 3FEX | X-ray | 355 A | A | 1-790 | PDB |
| 3FEY | X-ray | 220 A | A | 1-790 | PDB |
| 5OO6 | X-ray | 280 A | A/D/G/J/M/P/S/V | 20-790 | PDB |
| 5OOB | X-ray | 279 A | A/C/F/I | 20-790 | PDB |
| 6D0Y | X-ray | 268 A | C | 24-790 | PDB |
| 7ABG | EM | 780 A | A5 | 1-790 | PDB |
| 8BY6 | EM | 319 A | A | 20-790 | PDB |
| 8PMP | EM | 343 A | A | 20-790 | PDB |
| 8PNT | EM | 346 A | A | 20-790 | PDB |
| AF-Q09161-F1 | Predicted | AlphaFoldDB |
399 variants for Q09161
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5147980 rs759611269 |
2 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs752897059 CA5147982 |
4 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5147983 rs549300474 |
6 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374182422 rs1183515028 |
8 | D>G | No |
ClinGen TOPMed |
|
|
rs1221182942 CA374182418 |
8 | D>Y | No |
ClinGen gnomAD |
|
|
rs764204341 CA5148005 |
12 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs902054154 CA196749129 |
15 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1188435196 CA374183833 |
15 | P>S | No |
ClinGen TOPMed |
|
|
rs1170652461 CA374183918 |
22 | S>F | No |
ClinGen gnomAD |
|
|
rs1254118270 CA374183912 |
22 | S>T | No |
ClinGen TOPMed |
|
|
CA374183939 rs1446941455 |
25 | N>D | No |
ClinGen Ensembl |
|
|
CA374183942 rs1184462536 |
25 | N>S | No |
ClinGen TOPMed |
|
|
rs757529989 CA5148007 |
26 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5148006 rs754155815 |
26 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs111406212 CA196749142 |
29 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 31 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5148008 rs765743935 |
38 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs776693991 CA5148024 |
45 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA374184227 rs1313574427 |
47 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 61 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 62 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199768033 CA374184426 |
62 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199768033 CA5148028 |
62 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750751156 CA5148027 |
62 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766979856 CA5148029 |
63 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752179444 CA5148030 |
64 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA196749463 rs923722759 |
65 | K>R | No |
ClinGen Ensembl |
|
|
CA5148032 rs749990957 |
70 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013344069 CA196749479 |
74 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA374184583 rs1186113285 |
74 | T>I | No |
ClinGen gnomAD |
|
|
rs760042997 CA5148049 |
76 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016432056 CA196715084 |
77 | R>C | No |
ClinGen TOPMed |
|
|
rs368904475 CA5148050 |
77 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1297754470 CA374164571 |
80 | P>S | No |
ClinGen TOPMed |
|
|
CA5148053 rs561132889 |
88 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200044823 CA5148054 |
90 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA374164748 rs1232001888 |
92 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757022224 CA5148055 |
97 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs757022224 CA5148056 |
97 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA5148057 rs375702222 |
99 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771979745 CA5148058 |
100 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587997993 CA374164815 |
103 | E>K | No |
ClinGen Ensembl |
|
|
rs770066641 CA5148061 |
106 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs78263197 CA5148060 |
106 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA374164844 rs1564018751 |
107 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA374164859 rs1198382403 |
108 | M>I | No |
ClinGen gnomAD |
|
|
CA374164851 rs1450091347 |
108 | M>V | No |
ClinGen gnomAD |
|
|
rs773541128 CA5148062 |
110 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763319595 CA5148063 |
110 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 111 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374165006 rs1419983512 |
120 | N>D | No |
ClinGen TOPMed |
|
|
CA5148065 rs201055450 |
121 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs960465959 CA196715197 |
123 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 124 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158887405 CA374165072 |
124 | A>V | No |
ClinGen gnomAD |
|
|
CA5148069 rs143745791 |
125 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1241100167 CA374165094 |
126 | Y>C | No |
ClinGen TOPMed |
|
|
CA5148082 rs749413155 |
129 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771120940 CA5148083 |
129 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196716399 rs1006182196 |
131 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113188050 CA196716400 |
132 | S>P | No |
ClinGen Ensembl |
|
|
rs1447096287 CA869004899 |
137 | C>Y | No |
ClinGen TOPMed |
|
|
CA196716410 rs143244138 |
138 | H>R | No |
ClinGen ESP |
|
|
rs1315415591 CA374165394 |
138 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374165437 rs1244513780 |
141 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA196716413 rs1047126908 COSM1103039 |
142 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs764615349 CA5148089 COSM403880 |
143 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5148088 rs761121798 |
143 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761328077 CA5148091 |
145 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5148090 rs776051965 |
145 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA374165490 rs1322644123 |
146 | V>G | No |
ClinGen TOPMed |
|
|
rs570584263 CA5148093 |
148 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764931826 CA5148092 |
148 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381870282 CA374165517 |
149 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5148094 rs148430361 |
154 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA196716454 rs954834241 |
154 | S>T | No |
ClinGen TOPMed |
|
|
rs199742053 CA5148095 |
155 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 157 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1377606459 CA374165660 |
158 | E>G | No |
ClinGen gnomAD |
|
|
rs367832805 CA5148097 |
159 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1564019572 CA374165690 |
159 | E>G | No |
ClinGen Ensembl |
|
|
rs1379524559 CA374165722 |
160 | D>V | No |
ClinGen gnomAD |
|
|
CA5148100 rs749362324 |
162 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781283188 CA5148099 |
162 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA374165771 rs1157885895 |
163 | Q>L | No |
ClinGen gnomAD |
|
|
rs766090854 CA5148116 |
165 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5148117 rs751335902 |
166 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1259880389 CA374166110 |
169 | Y>F | No |
ClinGen gnomAD |
|
|
CA5148118 rs754837272 |
170 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM199352 CA374166147 rs1247010633 |
171 | Y>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA374166175 rs1564019760 |
173 | F>L | No |
ClinGen Ensembl |
|
|
rs752719793 CA5148120 |
174 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs369507099 CA5148123 |
189 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196716745 rs979828315 |
192 | M>V | No |
ClinGen TOPMed |
|
|
rs144152800 CA5148124 |
194 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780266538 CA5148125 COSM307501 |
194 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 197 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196716760 rs1047607607 |
198 | N>S | No |
ClinGen gnomAD |
|
|
rs781641948 CA5148128 |
199 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5148129 rs748653256 |
201 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5148130 rs770358840 |
204 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA374168210 rs1430038305 |
205 | R>S | No |
ClinGen TOPMed |
|
|
CA374168225 rs1429967001 |
207 | Q>E | No |
ClinGen gnomAD |
|
|
rs1588001107 CA374168231 |
207 | Q>R | No |
ClinGen Ensembl |
|
|
rs924437552 CA196717770 |
208 | K>N | No |
ClinGen Ensembl |
|
|
rs755313839 CA196717778 |
210 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196717783 rs774893629 |
210 | H>Q | No |
ClinGen Ensembl |
|
|
CA5148149 rs755313839 |
210 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5148150 rs781488285 |
211 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs946708135 CA196717785 |
211 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 212 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943983017 CA196717792 |
212 | P>S | No |
ClinGen Ensembl |
|
|
CA5148151 rs748580819 |
213 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs748737361 CA5148154 |
217 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA5148155 rs146305083 |
219 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5148156 rs774123015 |
222 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs774123015 CA196717809 |
222 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA374168692 rs1200521524 |
232 | L>V | No |
ClinGen gnomAD |
|
|
rs1444644035 CA374168944 |
243 | R>H | No |
ClinGen gnomAD |
|
|
rs547285420 CA5148169 |
245 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374169022 rs1242946926 |
246 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196717979 rs752763469 |
247 | R>W | No |
ClinGen gnomAD |
|
|
rs1454896839 CA374169156 |
253 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 253 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374169213 rs1469739919 |
257 | D>N | No |
ClinGen gnomAD |
|
|
rs1445045378 CA374169241 |
258 | S>G | No |
ClinGen Ensembl |
|
|
rs1400817980 CA374169457 |
267 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1403016979 CA374169510 |
270 | P>S | No |
ClinGen gnomAD |
|
|
CA5148175 rs757856712 |
272 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA196718046 rs992187406 |
275 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 280 | S>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374169699 rs367848815 |
281 | V>L | No |
ClinGen gnomAD |
|
|
CA196718050 rs367848815 |
281 | V>M | No |
ClinGen gnomAD |
|
|
CA374169733 rs1276142130 |
283 | P>T | No |
ClinGen gnomAD |
|
|
CA5148176 rs377142866 |
284 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374170010 rs1588001587 |
297 | D>E | No |
ClinGen Ensembl |
|
|
rs1363313647 CA374170781 |
312 | F>C | No |
ClinGen gnomAD |
|
|
rs746724831 CA5148198 |
312 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5148199 rs768217966 |
314 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776448255 CA5148200 |
315 | E>D | No |
ClinGen ExAC |
|
|
CA196719401 rs866735277 |
316 | E>G | No |
ClinGen gnomAD |
|
|
rs145175516 CA196719405 |
317 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA374170929 rs145175516 |
317 | N>T | No |
ClinGen ESP gnomAD |
|
|
CA5148201 rs747943842 |
319 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA374171008 rs1338363433 |
320 | C>S | No |
ClinGen Ensembl |
|
|
rs773042637 CA5148203 |
322 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587709986 CA374171096 |
324 | S>C | No |
ClinGen Ensembl |
|
|
CA5148204 rs762718765 |
325 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267546890 CA374171143 |
326 | W>C | No |
ClinGen gnomAD |
|
|
rs767681467 CA5148205 |
327 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA196719879 rs77021424 |
338 | S>N | No |
ClinGen Ensembl |
|
|
rs895821156 CA196719912 |
344 | K>R | No |
ClinGen Ensembl |
|
|
CA5148224 rs760681588 |
345 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1334655231 CA374172901 |
351 | I>V | No |
ClinGen TOPMed |
|
|
CA5148226 rs146487190 |
352 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440314764 CA374173311 |
357 | A>E | No |
ClinGen gnomAD |
|
|
rs1297799166 CA374173348 |
361 | Q>H | No |
ClinGen gnomAD |
|
|
CA196721636 rs201033807 |
364 | A>V | No |
ClinGen Ensembl |
|
|
rs774789588 CA5148250 |
365 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759059842 CA5148251 |
368 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 369 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 370 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 372 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5148253 rs752232675 |
374 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA374173546 rs1564023347 |
376 | L>F | No |
ClinGen Ensembl |
|
|
CA374173571 rs1266547389 |
377 | I>T | No |
ClinGen TOPMed |
|
|
rs1564023359 CA374173598 |
379 | L>Q | No |
ClinGen Ensembl |
|
|
CA5148256 rs753651073 |
381 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1309666909 CA374173687 |
384 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 385 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940481465 CA196721681 |
386 | S>C | No |
ClinGen Ensembl |
|
|
rs1217182356 COSM3779464 CA374174008 |
392 | A>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5148272 rs201715578 |
400 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763729923 CA5148273 |
401 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs191669699 CA5148274 |
401 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374174204 rs1365080891 |
402 | L>S | No |
ClinGen gnomAD |
|
|
rs1320278041 CA374174227 |
403 | D>E | No |
ClinGen gnomAD |
|
|
CA5148275 rs757052791 |
403 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs377011060 CA5148276 |
404 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 405 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429863415 CA374174324 |
408 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA374174341 rs1384657092 |
409 | C>Y | No |
ClinGen gnomAD |
|
|
CA374174551 rs1223757775 |
412 | R>S | No |
ClinGen gnomAD |
|
|
CA5148298 rs562093927 |
414 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA196722943 rs1010959075 |
418 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 422 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 424 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196722953 rs1043767378 |
427 | R>C | No |
ClinGen Ensembl |
|
|
CA5148300 rs529407443 |
427 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1463500738 CA374175070 |
435 | D>Y | No |
ClinGen TOPMed |
|
|
rs751426033 CA5148322 |
436 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1463331210 CA374175263 |
440 | D>E | No |
ClinGen gnomAD |
|
|
CA5148323 rs759509804 |
440 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196723213 rs1043584863 |
441 | P>L | No |
ClinGen TOPMed |
|
|
CA5148324 rs767499468 |
443 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1395347765 CA374175353 |
443 | S>T | No |
ClinGen gnomAD |
|
|
CA5148326 rs77602722 |
446 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs77602722 CA374175435 |
446 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753846445 CA5148325 |
446 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs946680169 CA196723230 |
448 | F>L | No |
ClinGen Ensembl |
|
|
CA374175531 rs1587715087 |
450 | R>K | No |
ClinGen Ensembl |
|
|
rs750692037 CA5148328 |
452 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1241402370 CA374175626 |
454 | E>Q | No |
ClinGen TOPMed |
|
|
CA5148329 rs758640371 |
456 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs775535487 CA5148343 |
462 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761774774 CA5148344 |
463 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761774774 CA374176378 |
463 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929728395 CA196725491 |
464 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs765310353 CA5148345 COSM1103043 |
464 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs575725741 CA196725515 |
465 | I>V | No |
ClinGen TOPMed |
|
|
rs376131263 CA196725516 |
468 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5148346 rs750531525 |
470 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA374176479 rs1587718235 |
472 | T>N | No |
ClinGen Ensembl |
|
|
rs1461575346 CA374176536 |
477 | C>R | No |
ClinGen gnomAD |
|
|
CA374176565 rs1185118991 |
479 | A>T | No |
ClinGen gnomAD |
|
|
rs1382987877 CA374176586 |
480 | N>S | No |
ClinGen gnomAD |
|
|
CA5148348 rs543815167 |
482 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1364986043 CA374176639 |
483 | C>Y | No |
ClinGen gnomAD |
|
|
CA5148352 rs565223329 |
488 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374176758 rs1380865282 |
489 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs748815530 CA5148355 |
492 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196725571 rs893749132 |
493 | N>H | No |
ClinGen Ensembl |
|
|
rs1261046976 CA374177665 |
493 | N>K | No |
ClinGen gnomAD |
|
|
CA5148372 rs767878003 |
494 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA196729257 rs112377432 |
494 | S>P | No |
ClinGen Ensembl |
|
|
rs1457711237 CA374177698 |
495 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 499 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756581884 CA5148374 |
501 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5148375 rs778478202 |
502 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587720534 CA374177905 |
505 | A>T | No |
ClinGen Ensembl |
|
|
rs1420409527 CA374177943 |
507 | A>G | No |
ClinGen TOPMed |
|
|
CA374177975 rs1176131002 |
508 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 510 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374178089 rs1380325163 |
514 | N>S | No |
ClinGen TOPMed |
|
|
CA5148376 rs753371425 |
515 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 515 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437677053 CA374178161 |
519 | S>G | No |
ClinGen TOPMed |
|
|
rs1254673124 CA374178195 |
520 | I>M | No |
ClinGen TOPMed |
|
|
CA5148377 rs756898200 |
523 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA374178281 rs1210269842 |
524 | V>A | No |
ClinGen TOPMed |
|
|
rs1432958061 CA374178263 |
524 | V>I | No |
ClinGen gnomAD |
|
|
rs1306811071 CA374178294 |
525 | P>A | No |
ClinGen gnomAD |
|
|
rs138518441 CA5148379 |
530 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150516377 CA5148378 |
530 | D>N | No |
ClinGen ESP ExAC |
|
|
CA374178600 rs368727721 |
533 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5148382 rs368727721 |
533 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA5148384 rs776589336 |
534 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5148396 rs778501080 |
538 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA374178992 rs1349230256 |
539 | F>L | No |
ClinGen gnomAD |
|
|
rs749934747 CA374179043 |
541 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758020951 CA5148398 |
541 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5148397 rs749934747 |
541 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196729831 rs1035915676 |
543 | K>R | No |
ClinGen Ensembl |
|
|
rs1315299106 CA374179102 |
544 | I>M | No |
ClinGen gnomAD |
|
|
CA5148400 rs141653335 |
544 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs978439391 CA196729834 |
544 | I>V | No |
ClinGen TOPMed |
|
|
rs1564027630 CA374179180 |
549 | Q>H | No |
ClinGen Ensembl |
|
|
CA374179207 rs1243162588 |
552 | L>I | No |
ClinGen gnomAD |
|
|
CA374179236 rs1451571445 |
553 | H>Q | No |
ClinGen gnomAD |
|
|
rs781092334 CA5148402 |
553 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769724189 CA374179308 |
557 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5148404 rs769724189 |
557 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587721836 CA374179398 |
563 | F>C | No |
ClinGen Ensembl |
|
|
CA374179471 rs1243990501 |
567 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5148428 rs745960045 |
569 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1333061085 CA374179646 |
571 | E>G | No |
ClinGen gnomAD |
|
|
rs772105621 CA5148429 |
572 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1405758678 CA374179693 |
574 | K>R | No |
ClinGen TOPMed |
|
|
CA374179717 rs1587722692 |
575 | T>I | No |
ClinGen Ensembl |
|
|
CA374179737 rs1349212050 |
577 | A>S | No |
ClinGen gnomAD |
|
|
rs900797208 CA196730537 |
579 | S>N | No |
ClinGen Ensembl |
|
|
CA5148431 rs576031865 |
579 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769033892 CA5148432 |
580 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 584 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 586 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5148437 rs762511481 |
590 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5148436 rs773658380 |
590 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 594 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374180101 rs1240332038 |
595 | R>K | No |
ClinGen TOPMed |
|
|
CA5148438 rs200307901 CA374180133 |
596 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA374180199 rs1463671483 |
599 | Q>P | No |
ClinGen Ensembl |
|
|
CA374181442 rs1455413094 |
600 | M>I | No |
ClinGen TOPMed |
|
|
rs1476216943 CA374181428 |
600 | M>K | No |
ClinGen gnomAD |
|
|
CA374181453 rs1166297551 |
601 | I>T | No |
ClinGen gnomAD |
|
|
rs1424724334 CA374181515 |
604 | L>V | No |
ClinGen gnomAD |
|
|
rs773638183 CA5148463 |
608 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5148464 rs763301023 |
609 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs766937640 CA5148465 |
610 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189780807 CA5148466 |
610 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA374181670 rs1295673921 |
613 | I>T | No |
ClinGen gnomAD |
|
|
rs759092106 CA5148467 |
614 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5148468 rs767122222 |
617 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 619 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760392584 CA5148470 |
621 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5148471 rs763732944 |
622 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5148474 rs199656608 |
630 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196731882 rs76139042 |
630 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs76139042 CA5148475 |
630 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1462896409 CA374181877 |
634 | R>K | No |
ClinGen TOPMed |
|
|
CA5148487 rs563025088 |
635 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1426352270 CA374181995 |
636 | F>L | No |
ClinGen TOPMed |
|
|
rs1459224114 CA374181990 |
636 | F>Y | No |
ClinGen gnomAD |
|
|
rs760207834 CA5148488 |
637 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA374182006 rs1388333402 |
638 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs530473497 CA5148490 |
644 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 646 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196733972 rs980313594 |
646 | R>G | No |
ClinGen TOPMed |
|
|
CA5148491 rs372649867 |
646 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1307706380 CA374182123 |
648 | M>I | No |
ClinGen gnomAD |
|
|
CA374182135 rs1352284898 |
649 | N>S | No |
ClinGen gnomAD |
|
|
CA374182159 rs1287548291 |
651 | H>R | No |
ClinGen gnomAD |
|
|
CA5148495 rs781352322 |
655 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs35694910 CA5148497 |
657 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374182244 rs1473885500 |
659 | L>V | No |
ClinGen gnomAD |
|
|
CA374182248 rs1180610932 |
660 | E>K | No |
ClinGen gnomAD |
|
|
rs1411773079 CA374182279 |
662 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA196733993 rs1048483539 |
665 | K>R | No |
ClinGen TOPMed |
|
|
rs1587726786 CA374182360 |
667 | A>D | No |
ClinGen Ensembl |
|
|
rs1564029976 CA374182355 |
667 | A>P | No |
ClinGen Ensembl |
|
|
rs1310351646 CA374182436 |
670 | H>R | No |
ClinGen TOPMed |
|
|
rs1178608336 CA374182499 |
672 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA374182484 rs1480959894 |
672 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs563951596 CA5148518 |
673 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374183111 rs546371242 |
678 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5148522 rs546371242 |
678 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5148524 rs746257224 |
680 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA374183207 rs1245387917 |
686 | G>E | No |
ClinGen gnomAD |
|
|
rs372358511 CA196736167 |
687 | V>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372358511 CA374183213 |
687 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746497048 CA196736186 |
689 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375383269 CA196736177 |
689 | E>K | No |
ClinGen ESP |
|
|
CA5148529 rs564435323 |
692 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5148528 rs779166421 |
692 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 693 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374183294 rs1237723575 |
694 | R>G | No |
ClinGen TOPMed |
|
|
rs1213983150 CA374183298 |
694 | R>P | No |
ClinGen TOPMed |
|
|
rs1213983150 COSM172648 CA374183297 |
694 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs369608673 CA5148531 |
698 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196736229 rs373186546 |
698 | K>T | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 699 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240128715 CA374183358 |
700 | E>Q | No |
ClinGen TOPMed |
|
|
rs773091094 CA5148532 |
701 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs267602330 CA196736233 |
709 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA374183483 rs267602330 |
709 | L>I | No |
ClinGen gnomAD |
|
|
rs1362619283 CA374183509 |
710 | F>L | No |
ClinGen gnomAD |
|
|
rs1322221272 CA374183502 |
710 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 712 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374183524 COSM1464330 rs1315197808 |
712 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA374183542 rs1380665329 |
713 | I>V | No |
ClinGen gnomAD |
|
|
rs1426838162 CA374183701 |
716 | R>W | No |
ClinGen gnomAD |
|
|
rs765442451 CA374183762 |
720 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5148558 rs765442451 |
720 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749349979 CA196736872 |
721 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 726 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1310373726 CA374184380 |
726 | V>I | No |
ClinGen gnomAD |
|
|
CA374184383 rs1310373726 |
726 | V>L | No |
ClinGen gnomAD |
|
|
CA5148562 rs201932796 |
727 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374184404 rs1275769807 |
727 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA374184402 rs1275769807 |
727 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA374184416 rs1347420902 |
728 | C>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 729 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278052037 COSM1258794 CA374184430 |
729 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1286426586 CA374184501 |
734 | S>G | No |
ClinGen TOPMed |
|
|
CA5148566 rs755750031 |
738 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA374184565 rs1239779864 |
738 | P>L | No |
ClinGen TOPMed |
|
|
rs148698789 CA5148567 |
739 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 740 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5148568 rs748888761 |
741 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157431407 CA374184607 |
741 | K>T | No |
ClinGen gnomAD |
|
|
CA5148569 rs770525476 |
742 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778725072 CA5148570 |
744 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273533103 CA374184667 |
749 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 755 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196738361 rs969569711 COSM1553885 |
760 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1370709913 CA374184758 |
760 | Q>R | No |
ClinGen gnomAD |
|
|
rs775998628 CA374184765 |
761 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs775998628 CA5148601 |
761 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 762 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5148602 rs142212526 |
776 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196738388 rs958280135 |
777 | H>Q | No |
ClinGen TOPMed |
|
|
rs1469769776 CA374184873 |
777 | H>R | No |
ClinGen gnomAD |
|
|
rs1459058704 CA374184882 |
778 | I>T | No |
ClinGen gnomAD |
|
|
CA5148603 rs377264051 |
781 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 782 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA374184948 rs1314891821 |
785 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA374184959 rs1338650771 |
786 | C>R | No |
ClinGen gnomAD |
|
|
CA5148605 rs756788361 |
786 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs764929932 CA5148606 |
789 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764929932 CA374184992 |
789 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs749986117 CA5148607 |
790 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1279841584 CA374185006 |
790 | A>S | No |
ClinGen TOPMed |
No associated diseases with Q09161
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| mRNA cap binding complex | Any protein complex that binds to an mRNA cap at any time in the lifetime of the mRNA. |
| nuclear cap binding complex | A conserved heterodimeric protein complex that binds to the 5' terminal cap structure m7G(5')ppp(5')N of nascent eukaryotic RNA polymerase II transcripts such as pre-mRNA and U snRNA. The consists of proteins known as CBP20 and CBP80, binds to cap structures in the nucleus, and is involved in pre-mRNA splicing, 3'-end formation, and RNA nuclear export. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
| RNA cap binding complex | Any protein complex that binds to a specialized RNA cap structure at any time in the lifetime of the RNA. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| RNA 7-methylguanosine cap binding | Binding to a 7-methylguanosine group added cotranscriptionally to the 5' end of RNA molecules transcribed by polymerase II. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA cap binding | Binding to a 7-methylguanosine (m7G) group or derivative located at the 5' end of an RNA molecule. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| 7-methylguanosine mRNA capping | Addition of the 7-methylguanosine cap to the 5' end of a nascent messenger RNA transcript. |
| alternative mRNA splicing, via spliceosome | The process of generating multiple mRNA molecules from a given set of exons by differential use of exons from the primary transcript(s) to form multiple mature mRNAs that vary in their exon composition. |
| cap-dependent translational initiation | The process where the cap structure, composed of a 7- methylguanosine (m7G) group and associated cap-binding proteins, located at the 5' end of an mRNA molecule, which serves as a molecular tag that marks the spot where the 40S ribosomal subunit, is recruited and will then scan in a 5' to 3' direction until an AUG codon is encountered in an appropriate sequence context to initiate mRNA translation. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| histone mRNA metabolic process | The chemical reactions and pathways involving an mRNA encoding a histone. |
| miRNA-mediated gene silencing | A post-transcriptional gene silencing pathway in which regulatory microRNAs (miRNAs) elicit silencing of specific target genes. miRNAs are endogenous 21-24 nucleotide small RNAs processed from stem-loop RNA precursors (pre-miRNAs). Once incorporated into a RNA-induced silencing complex (RISC), miRNAs can downregulate gene expression by either of two posttranscriptional mechanisms: endonucleolytic cleavage of the RNA (often mRNA) or mRNA translational repression, usually accompanied by poly-A tail shortening and subsequent degradation of the mRNA. miRNAs are present in all the animals and in plants, whereas siRNAs are present in lower animals and in plants. |
| mRNA 3'-end processing | Any process involved in forming the mature 3' end of an mRNA molecule. |
| mRNA export from nucleus | The directed movement of mRNA from the nucleus to the cytoplasm. |
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| mRNA transcription by RNA polymerase II | The cellular synthesis of messenger RNA (mRNA) from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. |
| nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | The nonsense-mediated decay pathway for nuclear-transcribed mRNAs degrades mRNAs in which an amino-acid codon has changed to a nonsense codon; this prevents the translation of such mRNAs into truncated, and potentially harmful, proteins. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| positive regulation of mRNA 3'-end processing | Any process that activates or increases the frequency, rate or extent of mRNA 3'-end processing. |
| positive regulation of mRNA splicing, via spliceosome | Any process that activates or increases the rate or extent of mRNA splicing via a spliceosomal mechanism. |
| positive regulation of phosphorylation of RNA polymerase II C-terminal domain | Any process that activates or increases the frequency, rate or extent of phosphorylation of RNA polymerase II C-terminal domain. |
| positive regulation of RNA binding | Any process that activates or increases the frequency, rate or extent of RNA binding. |
| positive regulation of transcription elongation by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| pre-mRNA cleavage required for polyadenylation | The targeted, endonucleolytic cleavage of a pre-mRNA, required for polyadenylation of the 3' end. This cleavage is directed by binding sites near the 3' end of the mRNA and leaves a 3' hydoxyl end which then becomes a target for adenylation. |
| primary miRNA processing | A process involved in the conversion of a primary microRNA transcript into a pre-microRNA molecule. |
| regulation of mRNA processing | Any process that modulates the frequency, rate or extent of mRNA processing, those processes involved in the conversion of a primary mRNA transcript into a mature mRNA prior to its translation into polypeptide. |
| regulation of translational initiation | Any process that modulates the frequency, rate or extent of translational initiation. |
| RNA catabolic process | The chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. |
| RNA splicing | The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| snRNA export from nucleus | The directed movement of snRNA from the nucleus to the cytoplasm. |
| spliceosomal complex assembly | The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZJZ6 | NCBP1 | Nuclear cap-binding protein subunit 1 | Gallus gallus (Chicken) | PR |
| Q7K4N3 | Cbp80 | Nuclear cap-binding protein subunit 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q3UYV9 | Ncbp1 | Nuclear cap-binding protein subunit 1 | Mus musculus (Mouse) | PR |
| Q56A27 | Ncbp1 | Nuclear cap-binding protein subunit 1 | Rattus norvegicus (Rat) | PR |
| Q9SIU2 | ABH1 | Nuclear cap-binding protein subunit 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6DIE2 | ncbp1 | Nuclear cap-binding protein subunit 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRRRHSDEN | DGGQPHKRRK | TSDANETEDH | LESLICKVGE | KSACSLESNL | EGLAGVLEAD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LPNYKSKILR | LLCTVARLLP | EKLTIYTTLV | GLLNARNYNF | GGEFVEAMIR | QLKESLKANN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YNEAVYLVRF | LSDLVNCHVI | AAPSMVAMFE | NFVSVTQEED | VPQVRRDWYV | YAFLSSLPWV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GKELYEKKDA | EMDRIFANTE | SYLKRRQKTH | VPMLQVWTAD | KPHPQEEYLD | CLWAQIQKLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KDRWQERHIL | RPYLAFDSIL | CEALQHNLPP | FTPPPHTEDS | VYPMPRVIFR | MFDYTDDPEG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVMPGSHSVE | RFVIEENLHC | IIKSHWKERK | TCAAQLVSYP | GKNKIPLNYH | IVEVIFAELF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QLPAPPHIDV | MYTTLLIELC | KLQPGSLPQV | LAQATEMLYM | RLDTMNTTCV | DRFINWFSHH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSNFQFRWSW | EDWSDCLSQD | PESPKPKFVR | EVLEKCMRLS | YHQRILDIVP | PTFSALCPAN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PTCIYKYGDE | SSNSLPGHSV | ALCLAVAFKS | KATNDEIFSI | LKDVPNPNQD | DDDDEGFSFN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PLKIEVFVQT | LLHLAAKSFS | HSFSALAKFH | EVFKTLAESD | EGKLHVLRVM | FEVWRNHPQM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IAVLVDKMIR | TQIVDCAAVA | NWIFSSELSR | DFTRLFVWEI | LHSTIRKMNK | HVLKIQKELE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EAKEKLARQH | KRRSDDDDRS | SDRKDGVLEE | QIERLQEKVE | SAQSEQKNLF | LVIFQRFIMI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LTEHLVRCET | DGTSVLTPWY | KNCIERLQQI | FLQHHQIIQQ | YMVTLENLLF | TAELDPHILA |
| VFQQFCALQA |