O00148
PR
Gene name |
DDX39A (DDX39) |
Protein name |
ATP-dependent RNA helicase DDX39A |
Names |
Fz-9, hFz9, FzE6, DEAD box protein 39, Nuclear RNA helicase URH49 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10212 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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
2 structures for O00148
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8IJU | X-ray | 182 A | A | 42-427 | PDB |
| AF-O00148-F1 | Predicted | AlphaFoldDB |
238 variants for O00148
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs938759560 CA305655611 |
2 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs938759560 CA305655607 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 3 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404431738 rs1265579824 |
6 | V>M | No |
ClinGen gnomAD |
|
|
rs1599646740 CA404431703 |
9 | D>Y | No |
ClinGen Ensembl |
|
|
CA305655570 rs970335865 |
20 | Q>* | No |
ClinGen TOPMed |
|
|
CA9252628 rs749603588 |
21 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9252627 TCGA novel rs775866358 |
24 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA404431518 rs1451785712 |
25 | S>C | No |
ClinGen gnomAD |
|
|
CA9252626 rs373471233 |
27 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373471233 CA9252625 |
27 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9252624 rs11545011 |
28 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305655522 rs11545011 |
28 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1599646684 CA404431486 |
28 | A>V | No |
ClinGen Ensembl |
|
|
rs746914366 CA9252622 |
29 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757347251 CA9252623 |
29 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777907332 CA9252621 |
30 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1380967785 CA404431468 |
31 | K>E | No |
ClinGen gnomAD |
|
|
rs758439644 CA9252620 |
33 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252619 rs752472366 |
41 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 44 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9252616 rs753497125 COSM991879 |
47 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9252617 COSM3822110 rs754645617 COSM3822109 |
47 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs370898359 CA305655477 |
49 | F>L | No |
ClinGen ESP |
|
|
rs1286325102 CA404430821 |
53 | P>L | No |
ClinGen gnomAD |
|
|
rs1297393439 CA404430804 |
55 | L>F | No |
ClinGen TOPMed |
|
|
CA404430788 rs1379954937 |
57 | R>W | No |
ClinGen gnomAD |
|
|
rs186936828 CA9252613 |
60 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs139575916 CA9252612 |
62 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1387188692 CA404430429 |
75 | I>V | No |
ClinGen TOPMed |
|
|
CA9252576 rs753225974 |
79 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1435303170 CA404430370 |
81 | G>S | No |
ClinGen gnomAD |
|
|
CA404430355 rs1422782118 |
82 | M>T | No |
ClinGen TOPMed |
|
|
rs144854190 CA305655070 |
83 | D>V | No |
ClinGen ESP |
|
|
CA305655065 rs948792548 |
84 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs867910747 CA305655060 |
88 | A>T | No |
ClinGen gnomAD |
|
|
rs755542930 CA9252574 |
90 | S>A | No |
ClinGen ExAC |
|
| TCGA novel | 95 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374281705 COSM1680737 CA9252571 |
96 | A>V | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1302160980 CA404430193 COSM1203251 |
97 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1371254364 CA404430168 |
99 | V>L | No |
ClinGen gnomAD |
|
|
rs1371254364 CA404430171 |
99 | V>M | No |
ClinGen gnomAD |
|
|
CA9252566 rs199574894 |
105 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9252565 rs148793643 |
107 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1467844885 CA404430062 |
109 | V>G | No |
ClinGen gnomAD |
|
|
rs369555390 CA404430047 |
110 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404430053 rs1360181188 |
110 | N>S | No |
ClinGen gnomAD |
|
|
rs1399804195 CA404430044 CA404430045 |
111 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA305654978 rs939874926 |
112 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 113 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402161369 CA404429933 |
114 | T>M | No |
ClinGen gnomAD |
|
|
rs545574879 CA305654382 |
118 | M>I | No |
ClinGen 1000Genomes |
|
|
CA9252515 rs778568165 |
118 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs770365031 CA9252514 |
121 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568327020 CA404429824 |
125 | A>T | No |
ClinGen Ensembl |
|
|
CA404429808 rs1439253971 |
126 | F>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 127 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404429768 rs201367742 |
129 | S>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1568326960 CA404429722 |
133 | E>G | No |
ClinGen Ensembl |
|
|
COSM403734 rs375885508 CA9252511 |
133 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA404429713 rs1203378271 |
134 | R>C | No |
ClinGen gnomAD |
|
|
rs1343328286 COSM218572 CA404429711 |
134 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 136 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307949821 CA404429652 |
139 | M>I | No |
ClinGen gnomAD |
|
|
CA9252510 rs751712404 |
139 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752709024 CA9252507 |
141 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs758580560 CA9252508 |
141 | S>R | No |
ClinGen ExAC gnomAD |
|
|
VAR_052166 CA9252505 rs36127505 |
142 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 143 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404429574 rs1599644192 |
144 | V>M | No |
ClinGen Ensembl |
|
|
CA9252481 rs767271393 |
145 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs763677065 CA9252478 |
148 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs774188639 CA9252479 |
148 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404429500 rs1318908369 |
151 | L>H | No |
ClinGen TOPMed |
|
|
rs1296570659 CA404429502 |
151 | L>V | No |
ClinGen gnomAD |
|
|
rs200805271 CA9252474 |
156 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 158 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376512444 CA305654083 |
158 | E>D | No |
ClinGen Ensembl |
|
|
rs773615718 CA9252473 |
158 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1018856925 CA305654079 |
159 | V>G | No |
ClinGen TOPMed |
|
|
CA9252472 rs772464213 |
159 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772464213 CA404429419 |
159 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252471 rs748344291 |
160 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs749323166 CA9252469 |
162 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs375109053 CA9252467 |
164 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9252465 rs750392393 |
166 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780927367 CA305654055 |
168 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1317050885 CA404429314 |
169 | V>L | No |
ClinGen gnomAD |
|
|
rs757167903 CA9252463 |
170 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1274503347 CA404429269 COSM117208 |
174 | R>H | ovary Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1434316411 CA404429244 |
177 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404429236 rs1324770179 |
178 | L>F | No |
ClinGen gnomAD |
|
|
CA404429228 rs773637851 |
179 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9252456 rs773637851 |
179 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs138882381 COSM1203252 CA9252455 |
180 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1173220438 CA404429220 |
180 | R>W | No |
ClinGen gnomAD |
|
|
rs762121715 CA9252454 |
185 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375284806 CA404428693 |
185 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9252453 rs375284806 |
185 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745797080 CA9252448 |
199 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 199 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781228064 CA404428438 |
200 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252446 rs757292248 |
200 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs781228064 CA9252447 |
200 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751337918 CA9252445 |
201 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777727425 CA9252444 |
202 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404428399 rs976772128 |
203 | Q>H | No |
ClinGen gnomAD |
|
|
CA404428305 rs1193234901 |
207 | R>Q | No |
ClinGen TOPMed |
|
|
rs747004457 CA9252427 |
208 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9252428 rs770939405 |
208 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418561453 CA404428290 |
209 | D>V | No |
ClinGen gnomAD |
|
|
rs145427640 CA9252426 |
213 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9252425 rs758169897 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252424 rs752557323 |
215 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9252422 rs754659946 |
217 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1348378351 CA404428195 |
218 | P>L | No |
ClinGen gnomAD |
|
|
rs918039652 CA404428191 |
219 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs918039652 CA305653595 |
219 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1021665679 CA305653587 |
220 | E>K | No |
ClinGen TOPMed |
|
|
rs786205516 CA236013 RCV000171279 |
226 | F>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA404428130 rs1232399660 |
227 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404428121 rs1487340653 |
228 | A>S | No |
ClinGen gnomAD |
|
|
rs765929999 CA9252420 |
231 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404428101 rs1388305643 |
231 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 233 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9252419 rs373303600 |
236 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373303600 CA404428063 |
236 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305653577 rs958199625 |
237 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752098269 CA9252418 |
239 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305653576 rs1007333966 |
242 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9252372 rs761623802 |
246 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1195989755 CA404427788 |
248 | V>M | No |
ClinGen gnomAD |
|
|
CA404427769 rs1253896919 |
251 | D>N | No |
ClinGen gnomAD |
|
|
COSM1717555 rs775269512 CA9252368 |
252 | D>N | ovary Variant assessed as Somatic; 0.0 impact. NS [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA404427722 rs1337280274 |
257 | T>R | No |
ClinGen gnomAD |
|
|
CA9252364 rs367978289 |
262 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs141278207 CA9252363 |
266 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | V>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9252362 rs779430327 |
267 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA404427632 rs1157358371 |
270 | D>E | No |
ClinGen gnomAD |
|
|
CA404427630 rs1442128363 |
271 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9252360 rs371219917 |
275 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9252359 rs148270304 |
275 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404427594 rs1252571359 |
276 | K>E | No |
ClinGen TOPMed |
|
|
rs1253638298 CA404427587 |
277 | L>I | No |
ClinGen gnomAD |
|
|
rs750697093 CA9252357 |
278 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA404427568 rs1445279166 |
279 | D>E | No |
ClinGen gnomAD |
|
|
rs1599641790 CA404427572 |
279 | D>Y | No |
ClinGen Ensembl |
|
|
CA9252327 rs765996110 |
291 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149114372 CA9252325 |
293 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749790285 CA9252324 |
294 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs749790285 CA9252323 |
294 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404427430 rs1449753991 |
298 | R>C | No |
ClinGen gnomAD |
|
|
rs776088660 CA9252322 |
298 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA305653120 rs201894828 |
299 | C>R | No |
ClinGen Ensembl |
|
|
CA404427414 rs1256384922 |
300 | M>I | No |
ClinGen gnomAD |
|
|
rs1317144511 CA404427416 |
300 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9252321 rs769817457 |
301 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404427407 rs1239683084 |
301 | A>V | No |
ClinGen TOPMed |
|
|
rs1274294537 CA404427388 CA404427389 |
304 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA305653113 rs376030027 |
306 | L>P | No |
ClinGen ESP TOPMed |
|
|
rs747261610 CA9252318 |
307 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747261610 CA9252317 |
307 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398627958 CA404427366 |
308 | E>D | No |
ClinGen gnomAD |
|
|
CA9252315 rs758526835 |
308 | E>V | No |
ClinGen ExAC TOPMed |
|
|
rs1568324699 CA404427353 |
310 | N>S | No |
ClinGen Ensembl |
|
|
CA305653092 rs146936895 |
311 | F>V | No |
ClinGen ESP |
|
|
rs897653601 CA305653089 |
312 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9252313 rs754881959 |
314 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141207973 CA9252311 |
315 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1254740634 CA404427317 |
316 | I>T | No |
ClinGen gnomAD |
|
|
CA404427304 rs1457138047 |
318 | R>W | No |
ClinGen gnomAD |
|
|
CA404427300 rs1236179050 |
319 | G>S | No |
ClinGen gnomAD |
|
|
CA9252309 rs760339680 |
320 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1034232766 CA404427269 |
323 | E>A | No |
ClinGen TOPMed |
|
|
rs1034232766 CA305653069 |
323 | E>G | No |
ClinGen TOPMed |
|
|
CA9252308 rs773047847 |
324 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278206404 CA404427258 |
325 | R>C | No |
ClinGen gnomAD |
|
|
CA404427231 rs1599641046 |
327 | S>L | No |
ClinGen Ensembl |
|
|
rs771494825 CA9252282 |
328 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760992758 CA9252281 |
328 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404427230 rs771494825 |
328 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305652923 rs772264761 CA404427196 |
332 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188717433 CA9252277 |
337 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9252278 rs748432095 |
337 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404427158 rs1271802037 |
338 | R>Q | No |
ClinGen gnomAD |
|
|
CA404427155 rs1599640981 |
339 | I>V | No |
ClinGen Ensembl |
|
|
rs1599640975 CA404427138 |
341 | V>G | No |
ClinGen Ensembl |
|
|
rs1263013931 CA404427127 |
343 | T>I | No |
ClinGen gnomAD |
|
|
rs1451994491 CA404427125 |
344 | N>H | No |
ClinGen TOPMed |
|
|
CA9252276 rs768663773 |
344 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404427117 rs1321465882 |
345 | L>V | No |
ClinGen gnomAD |
|
|
CA305652899 rs984466720 |
350 | M>L | No |
ClinGen TOPMed |
|
|
CA404427087 rs984466720 |
350 | M>V | No |
ClinGen TOPMed |
|
|
rs1398847885 CA404427056 |
354 | R>* | No |
ClinGen gnomAD |
|
|
CA305652898 rs897628666 |
354 | R>Q | No |
ClinGen Ensembl |
|
|
CA9252271 rs144815403 |
356 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1308408001 CA404427035 |
357 | I>S | No |
ClinGen gnomAD |
|
|
CA404427031 rs1233597719 |
358 | V>A | No |
ClinGen TOPMed |
|
|
CA9252269 rs751299237 |
358 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252268 rs763639317 |
360 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1238608912 CA404426970 |
366 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 367 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404426956 rs1193300532 |
368 | D>G | No |
ClinGen gnomAD |
|
|
rs761187273 CA9252264 |
373 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236468962 CA404426907 |
374 | V>A | No |
ClinGen gnomAD |
|
|
rs1330369759 CA404426889 |
377 | A>V | No |
ClinGen gnomAD |
|
|
rs763293104 CA9252236 |
382 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1402777233 CA404426853 |
383 | K>R | No |
ClinGen TOPMed |
|
|
CA9252235 rs775429595 |
384 | G>R | No |
ClinGen ExAC |
|
|
rs770034979 CA9252234 |
384 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1455057414 CA404426833 |
387 | I>F | No |
ClinGen gnomAD |
|
|
rs746717783 CA9252230 |
390 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9252231 rs746717783 |
390 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777641117 CA9252229 |
391 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs578171038 CA404426798 |
392 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404426776 rs1196077334 |
395 | D>G | No |
ClinGen gnomAD |
|
|
rs747871100 CA9252227 |
397 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs142952517 CA9252226 |
397 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753374130 CA9252224 |
400 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404426728 rs1308918930 |
402 | V>A | No |
ClinGen TOPMed |
|
|
CA305652635 rs865850947 |
402 | V>F | No |
ClinGen Ensembl |
|
|
rs757794163 CA9252221 |
404 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA404426681 rs1281990632 |
409 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764587694 CA9252219 |
411 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404426666 rs1414432764 |
412 | E>K | No |
ClinGen gnomAD |
|
|
CA404426640 rs1314778890 |
415 | E>D | No |
ClinGen gnomAD |
|
|
CA404426624 rs148589157 |
417 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1360378048 CA404426623 |
418 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs574444721 CA305652618 |
420 | S>C | No |
ClinGen gnomAD |
|
|
rs759650855 CA9252215 |
421 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA305652612 rs373517700 |
423 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs1217352698 CA404426574 |
424 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1217352698 CA404426573 |
424 | E>Q | No |
ClinGen gnomAD |
|
|
CA9252198 rs758743399 |
425 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA404426549 rs1275271752 |
427 | R>Q | No |
ClinGen gnomAD |
No associated diseases with O00148
1 regional properties for O00148
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 32 - 199 | IPR005225 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| identical protein binding | Binding to an identical protein or proteins. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| RNA export from nucleus | The directed movement of RNA from the nucleus to the cytoplasm. |
24 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07478 | SUB2 | ATP-dependent RNA helicase SUB2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3T147 | DDX39B | Spliceosome RNA helicase DDX39B | Bos taurus (Bovine) | PR |
| P60024 | DDX39B | Spliceosome RNA helicase DDX39B | Pan troglodytes (Chimpanzee) | PR |
| P38919 | EIF4A3 | Eukaryotic initiation factor 4A-III | Homo sapiens (Human) | PR |
| Q9NQI0 | DDX4 | Probable ATP-dependent RNA helicase DDX4 | Homo sapiens (Human) | SS |
| O15523 | DDX3Y | ATP-dependent RNA helicase DDX3Y | Homo sapiens (Human) | SS |
| O00571 | DDX3X | ATP-dependent RNA helicase DDX3X | Homo sapiens (Human) | EV |
| Q9UHL0 | DDX25 | ATP-dependent RNA helicase DDX25 | Homo sapiens (Human) | PR |
| Q9UMR2 | DDX19B | ATP-dependent RNA helicase DDX19B | Homo sapiens (Human) | PR |
| Q9NUU7 | DDX19A | ATP-dependent RNA helicase DDX19A | Homo sapiens (Human) | PR |
| P17844 | DDX5 | Probable ATP-dependent RNA helicase DDX5 | Homo sapiens (Human) | PR |
| Q13838 | DDX39B | Spliceosome RNA helicase DDX39B | Homo sapiens (Human) | PR |
| Q9UJV9 | DDX41 | Probable ATP-dependent RNA helicase DDX41 | Homo sapiens (Human) | PR |
| Q9Z1N5 | Ddx39b | Spliceosome RNA helicase Ddx39b | Mus musculus (Mouse) | PR |
| Q8VDW0 | Ddx39a | ATP-dependent RNA helicase DDX39A | Mus musculus (Mouse) | PR |
| Q29024 | DDX39B | Spliceosome RNA helicase DDX39B | Sus scrofa (Pig) | PR |
| Q63413 | Ddx39b | Spliceosome RNA helicase Ddx39b | Rattus norvegicus (Rat) | PR |
| Q5U216 | Ddx39a | ATP-dependent RNA helicase DDX39A | Rattus norvegicus (Rat) | PR |
| Q5TM17 | DDX39B | Spliceosome RNA helicase DDX39B | Macaca mulatta (Rhesus macaque) | PR |
| Q5JK84 | AIP2 | DEAD-box ATP-dependent RNA helicase 15 | Oryza sativa subsp japonica (Rice) | PR |
| Q0JM17 | AIP1 | DEAD-box ATP-dependent RNA helicase 56 | Oryza sativa subsp japonica (Rice) | PR |
| Q18212 | hel-1 | Spliceosome RNA helicase DDX39B homolog | Caenorhabditis elegans | PR |
| Q56XG6 | RH15 | DEAD-box ATP-dependent RNA helicase 15 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LFN6 | RH56 | DEAD-box ATP-dependent RNA helicase 56 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEQDVENDL | LDYDEEEEPQ | APQESTPAPP | KKDIKGSYVS | IHSSGFRDFL | LKPELLRAIV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DCGFEHPSEV | QHECIPQAIL | GMDVLCQAKS | GMGKTAVFVL | ATLQQIEPVN | GQVTVLVMCH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TRELAFQISK | EYERFSKYMP | SVKVSVFFGG | LSIKKDEEVL | KKNCPHVVVG | TPGRILALVR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NRSFSLKNVK | HFVLDECDKM | LEQLDMRRDV | QEIFRLTPHE | KQCMMFSATL | SKDIRPVCRK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FMQDPMEVFV | DDETKLTLHG | LQQYYVKLKD | SEKNRKLFDL | LDVLEFNQVI | IFVKSVQRCM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ALAQLLVEQN | FPAIAIHRGM | AQEERLSRYQ | QFKDFQRRIL | VATNLFGRGM | DIERVNIVFN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YDMPEDSDTY | LHRVARAGRF | GTKGLAITFV | SDENDAKILN | DVQDRFEVNV | AELPEEIDIS |
| TYIEQSR |