Q9UJV9
Gene name |
DDX41 (ABS) |
Protein name |
Probable ATP-dependent RNA helicase DDX41 |
Names |
DEAD box protein 41, DEAD box protein abstrakt homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51428 |
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

426 variants for Q9UJV9
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
RCV001256171 rs141601766 RCV000519179 RCV001256169 RCV000210251 |
1 | M>I | DDX41-related hematologic malignancy predisposition syndrome Myelodysplasia [ClinVar] | Yes |
ClinVar dbSNP |
rs746278774 RCV000579037 RCV001764696 CA3585373 |
41 | Q>* | DDX41-related hematologic malignancy predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001819963 RCV001256176 rs377745714 CA3585315 |
48 | Q>* | Acute myeloid leukemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV003222279 rs766117035 RCV001256167 |
53 | R>missing | Myelodysplasia [ClinVar] | Yes |
ClinVar dbSNP |
RCV000503753 rs1554111683 |
78 | P>missing | DDX41-related hematologic malignancy predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
CA3585295 rs773991873 RCV001256174 |
85 | V>F | Aplastic anemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs1554111653 RCV000502578 |
108 | K>missing | DDX41-related hematologic malignancy predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
rs1297703150 RCV001256172 |
124 | R>* | Myelodysplasia [ClinVar] | Yes |
ClinVar dbSNP |
RCV000210272 RCV000193600 rs762890562 RCV001008139 CA280919 |
140 | D>G | DDX41-related hematologic malignancy predisposition syndrome Acute myeloid leukemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV001818508 RCV000210264 CA358665 VAR_076360 rs142143752 |
164 | R>W | DDX41-related hematologic malignancy predisposition syndrome MPLPF; unknown pathological significance; no effect on localization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
RCV001256173 CA3585177 rs746166328 RCV001760302 RCV002222688 |
173 | G>R | DDX41-related hematologic malignancy predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA3585049 rs780209663 RCV000465916 |
237 | L>F | Acute myeloid leukemia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
rs376093707 CA3585048 RCV000465916 |
238 | P>T | Acute myeloid leukemia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs1761157695 RCV001256168 |
240 | I>missing | Acute myeloid leukemia [ClinVar] | Yes |
ClinVar dbSNP |
RCV000504169 CA362374394 rs774698335 |
339 | R>L | DDX41-related hematologic malignancy predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000500690 rs1554111073 |
382 | I>missing | DDX41-related hematologic malignancy predisposition syndrome [ClinVar] | Yes |
ClinVar dbSNP |
rs747072227 RCV001553497 RCV000210262 VAR_076361 CA358663 |
396 | I>T | DDX41-related hematologic malignancy predisposition syndrome MPLPF; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
CA358659 rs869312828 RCV000210250 VAR_076362 RCV002288840 |
525 | R>H | DDX41-related hematologic malignancy predisposition syndrome MPLPF; no effect on localization; changed interaction with spliceosomal complexes [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
RCV001256170 rs866179648 RCV002462887 |
529 | T>missing | Acute myeloid leukemia [ClinVar] | Yes |
ClinVar dbSNP |
CA132889319 RCV001255164 RCV002570584 rs969403252 |
556 | K>N | DDX41-related hematologic malignancy predisposition syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
CA3585442 rs138435584 |
2 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA362378197 rs1399847240 |
2 | E>G | No |
ClinGen gnomAD |
|
rs950718925 CA132896526 |
2 | E>K | No |
ClinGen gnomAD |
|
CA362378189 rs994034775 |
3 | E>D | No |
ClinGen TOPMed |
|
CA3585441 rs779986873 |
3 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585439 rs745639610 |
4 | S>L | No |
ClinGen ExAC gnomAD |
|
CA3585440 rs771770596 |
4 | S>T | No |
ClinGen ExAC gnomAD |
|
CA362378182 rs779029308 |
5 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779029308 CA3585438 |
5 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757444745 CA3585437 |
6 | P>R | No |
ClinGen ExAC gnomAD |
|
CA362378171 rs749405703 |
7 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585436 rs749405703 |
7 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749405703 CA132896497 |
7 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777823752 CA3585435 |
8 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1261255726 CA362378161 |
9 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs1261255726 CA362378159 |
9 | K>Q | No |
ClinGen TOPMed gnomAD |
|
CA362377990 rs1161708828 |
10 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs749014474 CA3585400 |
10 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA362377989 rs1161708828 |
10 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs144762739 CA3585399 |
11 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3585398 rs769954237 |
12 | R>C | No |
ClinGen ExAC gnomAD |
|
CA3585397 rs61736559 |
13 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362377976 rs1581811333 |
13 | T>P | No |
ClinGen Ensembl |
|
CA362377962 rs1182905371 |
15 | E>Q | No |
ClinGen gnomAD |
|
CA3585396 rs781328203 |
16 | V>L | No |
ClinGen ExAC gnomAD |
|
rs781328203 CA362377955 |
16 | V>M | No |
ClinGen ExAC gnomAD |
|
CA3585394 rs747566780 |
18 | A>T | No |
ClinGen ExAC gnomAD |
|
rs545124279 CA3585392 |
19 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs780643002 CA3585393 CA132896120 |
19 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585391 rs192558384 |
20 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA362377936 rs1374496908 |
20 | G>R | No |
ClinGen gnomAD |
|
CA362377918 rs1330322681 |
22 | R>H | No |
ClinGen gnomAD |
|
rs755765308 CA3585389 |
23 | S>C | No |
ClinGen ExAC gnomAD |
|
rs755765308 CA3585388 |
23 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1407262321 CA362377913 |
24 | E>K | No |
ClinGen gnomAD |
|
rs752211686 CA3585387 |
25 | A>G | No |
ClinGen ExAC gnomAD |
|
CA362377901 rs752211686 |
25 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1433636328 CA362377884 |
28 | E>K | No |
ClinGen TOPMed |
|
rs138939116 CA362377867 |
29 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs975031026 CA132896060 |
29 | D>N | No |
ClinGen Ensembl |
|
CA3585382 rs377090308 |
30 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA362377861 rs559527781 |
30 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs559527781 CA3585383 |
30 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
RCV000482372 CA16618188 rs1064794842 |
31 | E>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
rs772969629 CA3585381 |
32 | D>A | No |
ClinGen ExAC gnomAD |
|
CA362377833 rs1245318068 |
32 | D>H | No |
ClinGen gnomAD |
|
rs1245318068 CA362377835 |
32 | D>N | No |
ClinGen gnomAD |
|
rs762082953 CA3585379 |
33 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150205465 CA3585380 |
33 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA362377803 rs1453455783 |
34 | V>G | No |
ClinGen Ensembl |
|
CA132896011 rs984823447 |
35 | P>L | No |
ClinGen gnomAD |
|
CA362377792 rs984823447 |
35 | P>R | No |
ClinGen gnomAD |
|
CA3585377 rs768787901 |
36 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585376 rs11555633 |
38 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA132895998 rs11555633 |
38 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3585375 rs11555633 |
38 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1406601195 CA362377769 |
38 | P>S | No |
ClinGen gnomAD |
|
rs1362518112 CA362377746 |
40 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1398182183 CA362377750 |
40 | R>W | No |
ClinGen gnomAD |
|
CA362377738 rs1204442192 |
41 | Q>L | No |
ClinGen TOPMed |
|
CA362377733 rs1414400375 |
42 | R>G | No |
ClinGen gnomAD |
|
CA362377734 rs1414400375 |
42 | R>S | No |
ClinGen gnomAD |
|
CA362377711 rs1174618522 |
44 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs1316833419 CA362377550 |
47 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs771688240 CA3585314 |
51 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585313 rs745421135 |
53 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1364366603 CA362377471 |
54 | R>S | No |
ClinGen TOPMed gnomAD |
|
rs1175013945 CA362377465 |
55 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA362377461 rs1479333618 |
55 | R>L | No |
ClinGen gnomAD |
|
CA362377434 rs1431667147 |
58 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA362377432 rs1431667147 |
58 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs867483729 CA132895496 |
59 | A>S | No |
ClinGen Ensembl |
|
rs1261080038 CA362377399 |
61 | E>D | No |
ClinGen gnomAD |
|
CA132895489 rs368429550 |
62 | E>K | No |
ClinGen Ensembl |
|
rs749201065 CA3585310 |
63 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362377329 rs1231474960 |
66 | S>R | No |
ClinGen gnomAD |
|
CA362377324 rs970338234 |
67 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA132895475 rs970338234 |
67 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA362377315 rs1363890206 |
68 | S>G | No |
ClinGen gnomAD |
|
rs1038728566 CA132895457 |
69 | E>D | No |
ClinGen Ensembl |
|
CA3585308 rs756008087 |
70 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1007652200 CA132895437 |
71 | R>Q | No |
ClinGen TOPMed |
|
CA3585307 rs752494819 |
72 | G>R | No |
ClinGen ExAC gnomAD |
|
rs781615975 CA3585306 |
73 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585305 rs755126084 |
76 | D>E | No |
ClinGen ExAC gnomAD |
|
rs1359672157 CA362377214 |
77 | I>V | No |
ClinGen gnomAD |
|
CA362377203 rs1164510310 |
78 | P>A | No |
ClinGen TOPMed |
|
CA3585304 rs766355942 |
78 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585303 rs766355942 |
78 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750924167 CA3585301 |
79 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585300 rs765682063 |
81 | P>L | No |
ClinGen ExAC |
|
CA362377176 rs1178457155 |
81 | P>S | No |
ClinGen gnomAD |
|
rs771776006 CA3585297 |
83 | S>F | No |
ClinGen ExAC gnomAD |
|
CA3585296 rs759093303 |
84 | N>K | No |
ClinGen ExAC gnomAD |
|
rs773991873 CA362377152 |
85 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585293 rs199675507 |
90 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA362377074 rs1340906536 |
93 | H>Q | No |
ClinGen TOPMed |
|
rs1264141023 CA362377081 |
93 | H>Y | No |
ClinGen gnomAD |
|
rs1413731747 CA362377043 |
96 | E>Q | No |
ClinGen TOPMed |
|
rs746011638 CA3585261 |
105 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1338679836 CA362376860 |
107 | E>G | No |
ClinGen gnomAD |
|
rs1327804634 CA362376703 |
120 | V>L | No |
ClinGen TOPMed |
|
RCV002249532 CA132895108 RCV000822333 rs200567842 |
122 | E>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
rs772916947 CA3585252 |
122 | E>V | No |
ClinGen ExAC gnomAD |
|
CA3585251 rs764853110 |
123 | G>S | No |
ClinGen ExAC gnomAD |
|
rs771853983 CA3585224 |
130 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774582005 CA3585222 |
134 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1007976783 CA132894900 |
135 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1249860463 CA362376495 |
136 | I>V | No |
ClinGen gnomAD |
|
CA362376478 rs1407903590 |
137 | T>M | No |
ClinGen gnomAD |
|
rs748703307 CA3585217 |
139 | D>E | No |
ClinGen ExAC gnomAD |
|
CA3585218 rs770263914 |
139 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585219 rs375462407 |
139 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
rs1461623455 CA362376313 |
140 | D>E | No |
ClinGen gnomAD |
|
rs781486582 CA3585216 |
141 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1316889386 CA362376303 |
142 | I>T | No |
ClinGen gnomAD |
|
rs915284509 CA132893653 |
146 | W>* | No |
ClinGen Ensembl |
|
rs990049233 CA362376247 |
149 | P>A | No |
ClinGen gnomAD |
|
rs990049233 CA132893645 |
149 | P>S | No |
ClinGen gnomAD |
|
CA362376241 rs1420691936 |
150 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1420691936 CA362376242 |
150 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA132893620 rs763624515 |
150 | R>H | No |
ClinGen gnomAD |
|
CA3585196 rs747442017 |
151 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585194 rs758775538 |
152 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs151196255 CA3585193 |
154 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA362376217 rs1421882404 |
154 | S>T | No |
ClinGen TOPMed |
|
rs199697328 CA3585190 |
155 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3585191 rs755669218 |
155 | M>T | No |
ClinGen ExAC gnomAD |
|
rs767486464 CA3585189 |
158 | E>D | No |
ClinGen ExAC gnomAD |
|
CA3585188 rs754907965 |
159 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585187 rs751416476 |
159 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs879654141 CA132893532 |
160 | H>R | No |
ClinGen TOPMed |
|
COSM3410168 rs766175686 CA3585186 |
162 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA362376166 rs1284585050 |
162 | R>H | No |
ClinGen gnomAD |
|
rs1287073745 CA362376159 |
163 | V>A | No |
ClinGen gnomAD |
|
CA3585184 rs773515517 |
163 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585183 rs761993024 |
164 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1482033656 CA362376143 |
166 | K>R | No |
ClinGen TOPMed |
|
CA564900913 rs1199585468 |
167 | Y>* | No |
ClinGen gnomAD |
|
CA362376138 rs1431734476 |
167 | Y>H | No |
ClinGen gnomAD |
|
CA132893472 rs985879684 |
168 | H>Y | No |
ClinGen gnomAD |
|
CA362376123 rs1260196190 |
169 | I>V | No |
ClinGen gnomAD |
|
rs776070170 CA3585179 |
170 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585178 rs200005940 |
171 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362376113 rs200005940 |
171 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362376084 rs1233284218 |
175 | G>D | No |
ClinGen gnomAD |
|
CA132893409 rs377695856 |
175 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
rs377695856 CA362376087 |
175 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
CA3585176 rs551512601 |
176 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA3585174 rs747762811 |
177 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1365910639 CA362376069 |
178 | P>S | No |
ClinGen gnomAD |
|
CA3585172 rs376128262 |
180 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3585173 rs376128262 |
180 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751504268 CA132893386 |
181 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766263690 CA3585170 |
182 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758235844 CA3585169 |
183 | F>Y | No |
ClinGen ExAC gnomAD |
|
CA3585168 rs765561953 |
184 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585167 rs765561953 |
184 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1019261450 CA132893356 |
186 | M>I | No |
ClinGen TOPMed |
|
CA3585166 rs185950985 |
187 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1490572026 CA362375974 |
188 | F>I | No |
ClinGen TOPMed gnomAD |
|
CA3585165 rs776934246 |
189 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362375959 rs1450576850 |
189 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs764270729 CA3585164 |
190 | A>T | No |
ClinGen ExAC gnomAD |
|
rs760795625 CA3585163 |
190 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1004241531 CA132892798 |
193 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs771510721 CA3585098 |
195 | G>S | No |
ClinGen ExAC gnomAD |
|
CA3585097 rs745329544 |
195 | G>V | No |
ClinGen ExAC gnomAD |
|
rs149122003 CA362375718 |
197 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3585092 rs755920162 |
200 | G>D | No |
ClinGen ExAC gnomAD |
|
CA362375666 rs1474350454 |
202 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs905341773 CA132892764 |
203 | H>R | No |
ClinGen gnomAD |
|
rs1196477633 CA362375663 |
203 | H>Y | No |
ClinGen TOPMed |
|
CA362375639 rs1188918884 |
205 | T>K | No |
ClinGen gnomAD |
|
CA3585091 rs373575560 |
206 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA362375631 rs1480532080 |
206 | P>L | No |
ClinGen TOPMed |
|
rs1241092852 CA362375618 |
208 | Q>E | No |
ClinGen gnomAD |
|
CA362375604 rs1581807992 |
209 | I>S | No |
ClinGen Ensembl |
|
rs755036127 CA3585089 |
210 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1272360706 CA362375584 |
211 | G>D | No |
ClinGen gnomAD |
|
rs766913824 CA3585087 |
213 | P>H | No |
ClinGen ExAC gnomAD |
|
rs1466709476 CA362375554 |
214 | T>A | No |
ClinGen TOPMed |
|
CA362375549 rs1299024433 |
214 | T>I | No |
ClinGen gnomAD |
|
rs573545872 CA3585086 |
215 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs369566052 CA3585084 |
215 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs573545872 CA3585085 |
215 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs376867329 CA3585064 |
217 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
rs765680048 CA3585063 |
218 | G>C | No |
ClinGen ExAC gnomAD |
|
CA3585062 rs371460149 |
218 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA362375483 rs1162015461 |
219 | R>C | No |
ClinGen TOPMed |
|
CA3585061 rs754196793 |
219 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1166599072 CA362375458 |
221 | M>I | No |
ClinGen gnomAD |
|
rs773819724 CA3585058 |
225 | A>T | No |
ClinGen ExAC gnomAD |
|
CA3585056 rs762515434 |
230 | G>R | No |
ClinGen ExAC gnomAD |
|
CA3585054 rs769832683 |
232 | T>I | No |
ClinGen ExAC gnomAD |
|
rs747256985 CA3585050 |
236 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs890612475 CA132892330 |
237 | L>W | No |
ClinGen TOPMed |
|
rs376093707 CA3585047 |
238 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA362375300 rs1352012150 |
239 | V>I | No |
ClinGen gnomAD |
|
CA3585044 rs139112542 |
240 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA362375290 rs1433369826 |
240 | I>T | No |
ClinGen gnomAD |
|
CA3585045 rs139112542 |
240 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3585043 rs778216275 |
241 | M>T | No |
ClinGen ExAC TOPMed |
|
CA132892277 rs551630412 |
245 | E>K | No |
ClinGen Ensembl |
|
CA362375238 rs1365346524 |
245 | E>V | No |
ClinGen gnomAD |
|
CA3585041 rs751293126 |
246 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs146175373 CA3585040 |
247 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
rs749923024 CA3585038 |
249 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585036 rs200707924 |
250 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1479512527 CA362375180 |
251 | P>L | No |
ClinGen gnomAD |
|
rs747842313 CA132892244 |
251 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA3585034 rs768526031 |
254 | K>R | No |
ClinGen ExAC gnomAD |
|
CA3585033 rs760338178 |
255 | R>C | No |
ClinGen ExAC gnomAD |
|
rs775735135 CA3585032 |
255 | R>H | No |
ClinGen ExAC gnomAD |
|
rs746011550 CA3585030 |
256 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362375111 rs1289634533 |
258 | P>L | No |
ClinGen TOPMed |
|
CA3585029 rs778947112 |
258 | P>T | No |
ClinGen ExAC |
|
CA3585027 rs139780256 |
259 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA362375088 rs1302857325 |
261 | L>F | No |
ClinGen gnomAD |
|
CA3585023 rs181004515 |
262 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA362375057 rs1318216671 |
264 | C>S | No |
ClinGen gnomAD |
|
rs758121960 CA3585022 |
266 | S>L | No |
ClinGen ExAC gnomAD |
|
rs1000039111 CA132892067 |
267 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs748590587 CA3585007 |
267 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA132892060 rs901158764 |
268 | E>* | No |
ClinGen gnomAD |
|
CA362375003 rs901158764 |
268 | E>Q | No |
ClinGen gnomAD |
|
CA3585003 rs745544108 |
270 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3585002 rs778379292 |
271 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1581807260 CA362374957 |
273 | T>P | No |
ClinGen Ensembl |
|
CA362374942 rs200122668 |
274 | H>P | No |
ClinGen TOPMed gnomAD |
|
CA132892016 rs200122668 |
274 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs1271915654 CA362374933 |
275 | G>D | No |
ClinGen gnomAD |
|
CA3585001 rs756840368 |
275 | G>S | No |
ClinGen ExAC gnomAD |
|
CA132892012 rs568464531 |
277 | L>V | No |
ClinGen 1000Genomes TOPMed |
|
CA3585000 rs753251952 |
281 | C>Y | No |
ClinGen ExAC gnomAD |
|
COSM1066414 CA3584999 rs764156386 |
282 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs756029240 CA3584998 |
282 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362374856 rs1313680693 |
283 | L>P | No |
ClinGen gnomAD |
|
rs1581807179 CA362374849 |
284 | L>P | No |
ClinGen Ensembl |
|
rs1263166065 CA362374831 |
286 | E>Q | No |
ClinGen TOPMed |
|
rs767306529 CA3584996 |
287 | D>V | No |
ClinGen ExAC gnomAD |
|
CA3584995 rs759290290 |
288 | S>G | No |
ClinGen ExAC gnomAD |
|
rs763133277 CA3584992 |
293 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3584991 rs773162771 |
293 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362374752 rs1187779694 |
294 | C>F | No |
ClinGen gnomAD |
|
rs748680511 CA3584989 |
295 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3584988 rs777236551 |
296 | L>F | No |
ClinGen ExAC gnomAD |
|
rs778667883 CA3584985 |
298 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3584986 rs778667883 |
298 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1561733539 CA362374731 |
298 | I>V | No |
ClinGen Ensembl |
|
rs1408427651 CA362374710 |
301 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs888992244 CA132891902 |
302 | S>F | No |
ClinGen Ensembl |
|
rs141982967 CA3584983 |
303 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3584982 rs141982967 |
303 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1238582918 CA362374673 |
306 | Q>H | No |
ClinGen gnomAD |
|
CA132891889 rs996454252 |
307 | M>R | No |
ClinGen TOPMed gnomAD |
|
rs777158421 CA3584981 |
308 | E>D | No |
ClinGen ExAC gnomAD |
|
CA132891862 rs371035635 |
309 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
rs1581807013 CA362374657 |
309 | T>P | No |
ClinGen Ensembl |
|
CA132891855 rs899399494 |
311 | R>* | No |
ClinGen TOPMed gnomAD |
|
COSM3429318 rs1050311907 CA132891846 |
311 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs377107791 CA362374611 |
312 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs755552331 CA3584980 |
312 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA3584940 rs768156226 |
313 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780667117 CA3584942 |
313 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3584941 rs780667117 |
313 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780003390 CA3584938 |
316 | M>V | No |
ClinGen ExAC |
|
rs758175653 CA362374575 |
318 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758175653 CA3584937 |
318 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3584935 rs779344903 |
322 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1487823188 CA362374546 |
323 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1248764875 CA362374545 |
323 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA362374508 rs1581805799 |
328 | L>R | No |
ClinGen Ensembl |
|
rs1335035111 CA362374505 |
329 | Q>* | No |
ClinGen gnomAD |
|
CA362374495 rs1267127828 |
330 | K>E | No |
ClinGen gnomAD |
|
rs1307172822 CA362374460 |
332 | M>I | No |
ClinGen gnomAD |
|
rs1226241789 CA362374471 |
332 | M>V | No |
ClinGen gnomAD |
|
RCV001008395 rs1581805747 |
336 | D>missing | No |
ClinVar dbSNP |
|
rs764270601 CA3584931 |
337 | I>T | No |
ClinGen ExAC gnomAD |
|
CA362374419 rs1218515094 |
337 | I>V | No |
ClinGen gnomAD |
|
rs148384288 CA362374404 |
338 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148384288 CA3584929 |
338 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148384288 CA3584930 |
338 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759862062 CA3584927 |
339 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV000501123 CA3584926 rs774698335 RCV002264947 |
339 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1184919983 CA362374388 |
340 | Y>F | No |
ClinGen TOPMed |
|
rs1459080623 CA362374366 |
342 | A>V | No |
ClinGen gnomAD |
|
rs370129260 CA3584921 |
345 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775327364 CA3584920 |
349 | M>K | No |
ClinGen ExAC gnomAD |
|
CA362374299 rs1383184862 |
350 | I>L | No |
ClinGen TOPMed |
|
rs1581805617 CA362374292 |
350 | I>T | No |
ClinGen Ensembl |
|
CA362374288 rs1246615905 |
351 | D>N | No |
ClinGen gnomAD |
|
CA3584917 rs778864620 |
355 | E>K | No |
ClinGen ExAC gnomAD |
|
CA132890981 rs778864620 |
355 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1260731752 CA362374234 |
356 | G>S | No |
ClinGen gnomAD |
|
CA362374192 rs1284223764 |
360 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA132890938 rs267600572 |
363 | S>Y | No |
ClinGen Ensembl |
|
CA3584913 rs756198515 |
366 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1490086789 CA362374075 |
368 | Q>* | No |
ClinGen TOPMed |
|
CA3584879 rs747672157 |
369 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
RCV000502075 RCV001770380 CA3584878 rs747672157 |
369 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773047033 CA132890623 |
370 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1264711183 CA362374045 |
371 | T>S | No |
ClinGen gnomAD |
|
CA3584876 rs769417886 |
371 | T>S | No |
ClinGen ExAC gnomAD |
|
rs200003905 CA132890614 |
373 | L>I | No |
ClinGen Ensembl |
|
rs144057590 CA3584874 |
381 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
rs1408564822 CA362373909 |
385 | F>S | No |
ClinGen TOPMed |
|
rs774143705 CA132890575 |
392 | K>N | No |
ClinGen Ensembl |
|
rs1371336249 CA362373834 |
393 | P>A | No |
ClinGen TOPMed |
|
CA362373828 rs1455997810 |
393 | P>L | No |
ClinGen gnomAD |
|
CA362373793 rs1321675449 |
398 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1561732025 CA362373778 |
400 | R>H | No |
ClinGen Ensembl |
|
CA3584867 rs758885853 |
401 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1337445434 CA362373767 |
402 | G>E | No |
ClinGen TOPMed |
|
rs781544959 CA132890543 |
404 | A>G | No |
ClinGen Ensembl |
|
CA362373713 rs1228057039 |
409 | I>T | No |
ClinGen gnomAD |
|
CA3584862 rs752416266 |
409 | I>V | No |
ClinGen ExAC gnomAD |
|
CA362373699 rs1290351850 |
410 | Q>H | No |
ClinGen gnomAD |
|
CA362373702 rs1275110923 |
410 | Q>L | No |
ClinGen TOPMed |
|
CA3584832 rs775645581 |
412 | V>A | No |
ClinGen ExAC |
|
CA362373641 rs775645581 |
412 | V>G | No |
ClinGen ExAC |
|
CA3584833 rs367653265 |
412 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA3584830 rs772162239 |
413 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749721635 CA3584826 |
422 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1581804278 CA362373540 |
423 | Y>S | No |
ClinGen Ensembl |
|
rs1323392935 CA362373522 |
425 | L>H | No |
ClinGen TOPMed |
|
RCV000627551 rs1554110980 |
426 | E>missing | No |
ClinVar dbSNP |
|
rs376656648 CA132890169 |
426 | E>K | No |
ClinGen ESP TOPMed |
|
CA362373497 rs945210248 |
427 | C>F | No |
ClinGen gnomAD |
|
CA132890164 rs945210248 |
427 | C>Y | No |
ClinGen gnomAD |
|
rs1187303932 CA362373476 |
430 | K>E | No |
ClinGen gnomAD |
|
CA3584822 rs757978164 |
433 | P>S | No |
ClinGen ExAC gnomAD |
|
CA3584820 rs765273800 |
434 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1458994357 CA362373406 |
435 | V>I | No |
ClinGen TOPMed |
|
CA3584794 rs759692436 |
437 | I>T | No |
ClinGen ExAC gnomAD |
|
CA3584793 rs751738235 |
439 | A>V | No |
ClinGen ExAC gnomAD |
|
CA3584792 rs766401102 |
440 | E>D | No |
ClinGen ExAC gnomAD |
|
CA3584791 rs763081149 |
441 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1296093002 CA362373316 |
444 | D>V | No |
ClinGen TOPMed |
|
rs1234794202 CA362373321 |
444 | D>Y | No |
ClinGen gnomAD |
|
rs1287227574 CA362373311 |
445 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA362373282 rs1375453537 |
448 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA3584784 rs778575920 |
457 | V>I | No |
ClinGen ExAC gnomAD |
|
CA362373196 rs778575920 |
457 | V>L | No |
ClinGen ExAC gnomAD |
|
rs777752482 CA3584781 |
460 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362373003 rs1329727523 |
471 | R>W | No |
ClinGen TOPMed |
|
RCV001256175 RCV001751523 CA3584739 rs200307685 |
479 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3584740 rs768638631 |
479 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780011110 CA3584738 |
481 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1300267169 CA362372890 |
482 | K>N | No |
ClinGen gnomAD |
|
rs1394709760 CA362372894 |
482 | K>R | No |
ClinGen gnomAD |
|
CA3584735 rs746112739 |
487 | V>L | No |
ClinGen ExAC gnomAD |
|
CA3584733 rs757449267 |
491 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362372772 rs1172483916 |
495 | G>S | No |
ClinGen TOPMed |
|
CA132889675 rs774057488 |
501 | I>N | No |
ClinGen Ensembl |
|
CA3584728 rs753078023 |
504 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1481054471 CA362372672 |
505 | I>V | No |
ClinGen gnomAD |
|
rs1231734986 CA362372639 |
507 | Y>* | No |
ClinGen gnomAD |
|
CA362372647 rs1265067440 |
507 | Y>N | No |
ClinGen gnomAD |
|
rs199756165 CA3584727 |
510 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772902682 CA3584725 |
513 | I>T | No |
ClinGen ExAC gnomAD |
|
CA132889653 rs1014402897 |
516 | Y>C | No |
ClinGen TOPMed |
|
rs1191544621 CA362372485 |
519 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA3584697 rs774299454 |
526 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1405173089 CA362372417 |
527 | G>A | No |
ClinGen gnomAD |
|
rs1581802660 CA362372400 |
529 | T>A | No |
ClinGen Ensembl |
|
rs749555218 CA3584695 |
529 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362372397 rs749555218 |
529 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1275046805 CA362372372 |
532 | A>T | No |
ClinGen gnomAD |
|
rs1429676926 CA362372355 |
533 | T>I | No |
ClinGen gnomAD |
|
CA132889539 rs1031559373 |
534 | T>A | No |
ClinGen TOPMed |
|
rs1382668708 CA362372342 |
535 | F>I | No |
ClinGen gnomAD |
|
CA3584688 rs755467087 |
539 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1581802095 CA362372255 |
543 | S>* | No |
ClinGen Ensembl |
|
CA3584654 rs140371153 |
548 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
CA132889330 rs113077379 |
548 | L>P | No |
ClinGen Ensembl |
|
rs1167201781 CA362372142 |
561 | P>A | No |
ClinGen gnomAD |
|
CA132889311 rs998093581 |
561 | P>L | No |
ClinGen Ensembl |
|
rs746326361 CA3584649 |
562 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1176022439 CA362372133 |
563 | L>M | No |
ClinGen gnomAD |
|
CA362372127 rs1471357257 |
564 | Q>E | No |
ClinGen gnomAD |
|
CA362372121 rs1233873125 |
564 | Q>H | No |
ClinGen gnomAD |
|
rs781182074 CA3584648 |
565 | V>L | No |
ClinGen ExAC gnomAD |
|
CA3584647 rs781182074 |
565 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1467756814 CA362372107 |
567 | H>R | No |
ClinGen gnomAD |
|
rs747823734 CA3584646 |
568 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757180883 CA3584644 |
569 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA362372085 rs1222072296 |
570 | D>E | No |
ClinGen gnomAD |
|
rs367918756 CA3584642 |
575 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1195314927 CA362372007 |
580 | R>C | No |
ClinGen gnomAD |
|
rs778787490 CA3584618 |
580 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1312801443 CA362371995 |
582 | C>Y | No |
ClinGen gnomAD |
|
rs1413539474 CA362371983 |
584 | F>L | No |
ClinGen gnomAD |
|
CA362371935 rs1395944669 |
591 | R>Q | No |
ClinGen TOPMed |
|
rs763815974 CA3584615 |
594 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1167946851 CA362371898 |
597 | K>* | No |
ClinGen gnomAD |
|
rs1167946851 CA362371896 |
597 | K>Q | No |
ClinGen gnomAD |
|
rs1187062751 CA362371864 |
601 | M>I | No |
ClinGen gnomAD |
|
rs1257961807 CA362371832 |
605 | Q>H | No |
ClinGen gnomAD |
|
CA3584611 rs759638837 |
609 | I>V | No |
ClinGen ExAC gnomAD |
|
rs763471166 CA3584608 |
610 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3584607 rs773727212 |
610 | G>V | No |
ClinGen ExAC gnomAD |
|
rs770220016 CA3584606 |
611 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA3584605 rs746674889 |
614 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs771535420 CA3584603 |
617 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745374460 CA3584602 |
620 | M>V | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9UJV9
[MIM: 616871]: Myeloproliferative/lymphoproliferative neoplasms, familial (MPLPF)
A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. {ECO:0000269|PubMed:25920683, ECO:0000269|PubMed:26712909}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A familial cancer predisposition syndrome with incomplete penetrance, characterized by increased susceptibility to myeloid neoplasms and rarely to lymphoid malignancies. MPLPF inheritance is autosomal dominant. {ECO:0000269|PubMed:25920683, ECO:0000269|PubMed:26712909}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
5 regional properties for Q9UJV9
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Helicase, C-terminal | 407 - 567 | IPR001650 |
domain | DEAD/DEAH box helicase domain | 205 - 384 | IPR011545 |
domain | Helicase superfamily 1/2, ATP-binding domain | 200 - 411 | IPR014001 |
domain | RNA helicase, DEAD-box type, Q motif | 181 - 209 | IPR014014 |
domain | DDX41, DEAD-box helicase domain | 192 - 397 | IPR044113 |
Functions
Description | ||
---|---|---|
EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
Subcellular Localization |
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PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
5 GO annotations of cellular component
Name | Definition |
---|---|
catalytic step 2 spliceosome | A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
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. |
spliceosomal complex | Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA. |
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. |
metal ion binding | Binding to a metal ion. |
RNA binding | Binding to an RNA molecule or a portion thereof. |
RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
4 GO annotations of biological process
Name | Definition |
---|---|
apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
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. |
16 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9V3C0 | abs | ATP-dependent RNA helicase abstrakt | Drosophila melanogaster (Fruit fly) | 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 |
O00148 | DDX39A | ATP-dependent RNA helicase DDX39A | Homo sapiens (Human) | PR |
Q13838 | DDX39B | Spliceosome RNA helicase DDX39B | Homo sapiens (Human) | PR |
Q91VN6 | Ddx41 | Probable ATP-dependent RNA helicase DDX41 | Mus musculus (Mouse) | PR |
Q5Z6G5 | Os06g0697200 | DEAD-box ATP-dependent RNA helicase 35B | Oryza sativa subsp japonica (Rice) | PR |
Q0E3X4 | Os02g0150100 | DEAD-box ATP-dependent RNA helicase 35A | Oryza sativa subsp japonica (Rice) | PR |
Q9LU46 | RH35 | DEAD-box ATP-dependent RNA helicase 35 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9SZB4 | RH43 | Putative DEAD-box ATP-dependent RNA helicase 43 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MEESEPERKR | ARTDEVPAGG | SRSEAEDEDD | EDYVPYVPLR | QRRQLLLQKL | LQRRRKGAAE |
70 | 80 | 90 | 100 | 110 | 120 |
EEQQDSGSEP | RGDEDDIPLG | PQSNVSLLDQ | HQHLKEKAEA | RKESAKEKQL | KEEEKILESV |
130 | 140 | 150 | 160 | 170 | 180 |
AEGRALMSVK | EMAKGITYDD | PIKTSWTPPR | YVLSMSEERH | ERVRKKYHIL | VEGDGIPPPI |
190 | 200 | 210 | 220 | 230 | 240 |
KSFKEMKFPA | AILRGLKKKG | IHHPTPIQIQ | GIPTILSGRD | MIGIAFTGSG | KTLVFTLPVI |
250 | 260 | 270 | 280 | 290 | 300 |
MFCLEQEKRL | PFSKREGPYG | LIICPSRELA | RQTHGILEYY | CRLLQEDSSP | LLRCALCIGG |
310 | 320 | 330 | 340 | 350 | 360 |
MSVKEQMETI | RHGVHMMVAT | PGRLMDLLQK | KMVSLDICRY | LALDEADRMI | DMGFEGDIRT |
370 | 380 | 390 | 400 | 410 | 420 |
IFSYFKGQRQ | TLLFSATMPK | KIQNFAKSAL | VKPVTINVGR | AGAASLDVIQ | EVEYVKEEAK |
430 | 440 | 450 | 460 | 470 | 480 |
MVYLLECLQK | TPPPVLIFAE | KKADVDAIHE | YLLLKGVEAV | AIHGGKDQEE | RTKAIEAFRE |
490 | 500 | 510 | 520 | 530 | 540 |
GKKDVLVATD | VASKGLDFPA | IQHVINYDMP | EEIENYVHRI | GRTGRSGNTG | IATTFINKAC |
550 | 560 | 570 | 580 | 590 | 600 |
DESVLMDLKA | LLLEAKQKVP | PVLQVLHCGD | ESMLDIGGER | GCAFCGGLGH | RITDCPKLEA |
610 | 620 | ||||
MQTKQVSNIG | RKDYLAHSSM | DF |