Q9NWT1
Gene name |
PAK1IP1 (PIP1, WDR84) |
Protein name |
p21-activated protein kinase-interacting protein 1 |
Names |
PAK/PLC-interacting protein 1, hPIP1, PAK1-interacting protein 1, WD repeat-containing protein 84 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55003 |
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
1 structures for Q9NWT1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NWT1-F1 | Predicted | AlphaFoldDB |
321 variants for Q9NWT1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1189481622 CA362712472 |
3 | L>V | No |
ClinGen TOPMed |
|
|
rs763848894 CA3632570 |
4 | V>F | No |
ExAC gnomAD ClinGen |
|
|
rs757088413 CA362712481 |
5 | A>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs757088413 CA3632572 |
5 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200871118 CA3632573 |
6 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361731562 CA362712505 CA362712506 |
8 | Y>* | No |
gnomAD ClinGen |
|
|
CA362712513 rs1182004409 |
9 | E>D | No |
ClinGen gnomAD |
|
|
rs371781516 CA3632574 |
9 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs371781516 CA362712507 |
9 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756176747 CA3632575 |
10 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376060945 CA134112960 |
10 | Q>H | No |
ESP TOPMed ClinGen |
|
|
CA362712521 rs1299991263 |
11 | V>I | No |
ClinGen TOPMed |
|
|
rs915535382 CA134112969 |
13 | F>C | No |
TOPMed gnomAD ClinGen |
|
|
rs915535382 CA362712534 |
13 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3632576 rs780256684 |
13 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA134112965 rs915535382 |
13 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1467643460 CA362712542 |
14 | G>V | No |
gnomAD ClinGen |
|
|
CA362712558 rs1171955323 |
17 | V>L | No |
gnomAD ClinGen |
|
|
CA3632577 rs749417108 |
18 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA362712581 rs1331835439 |
20 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1341888426 CA362712582 |
20 | E>D | No |
ClinGen gnomAD |
|
|
rs774651899 CA3632579 |
21 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1448195071 CA362712585 |
21 | P>S | No |
ClinGen gnomAD |
|
|
rs772493979 CA3632582 |
22 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3632583 rs761160420 |
24 | C>F | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 24 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362712618 rs1339009310 |
26 | D>G | No |
ClinGen TOPMed |
|
|
rs1198486289 CA362712615 |
26 | D>N | No |
gnomAD ClinGen |
|
|
TCGA novel rs1008791325 CA134114205 |
30 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed NCI-TCGA ClinGen |
|
CA3632604 rs777145719 |
31 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362712725 rs777145719 |
31 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362712737 rs1381378465 |
33 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 33 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362712748 rs1385034760 |
35 | D>G | No |
gnomAD ClinGen |
|
|
CA362712752 rs1325385485 |
36 | F>I | No |
gnomAD ClinGen |
|
|
CA3632605 rs369987329 |
36 | F>L | No |
ESP ExAC gnomAD ClinGen |
|
| TCGA novel | 36 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3632606 rs768207218 |
38 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1027730861 COSM1672234 CA134114235 |
43 | A>T | prostate [Cosmic] | No |
Ensembl ClinGen cosmic curated |
|
CA3632610 rs370701797 |
48 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946134331 CA362712835 |
49 | A>P | No |
TOPMed gnomAD ClinGen |
|
|
rs946134331 CA134114257 |
49 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1437657134 CA362712842 |
50 | V>I | No |
ClinGen gnomAD |
|
|
CA362712857 rs1177158343 |
52 | S>N | No |
ClinGen gnomAD |
|
|
rs1581580007 CA362712862 |
53 | R>C | No |
Ensembl ClinGen |
|
|
CA134114259 rs1041702774 |
53 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
CA362712865 rs1041702774 |
53 | R>P | No |
TOPMed gnomAD ClinGen |
|
|
rs1158757669 CA362712877 |
55 | V>L | No |
ClinGen TOPMed |
|
|
rs1158809032 CA362712882 |
56 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA362712913 rs1183140580 |
60 | K>N | No |
TOPMed ClinGen |
|
|
CA3632613 rs139672454 |
60 | K>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs980796839 CA134114286 |
62 | E>K | No |
ClinGen Ensembl |
|
|
CA3632614 rs1035406624 |
66 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
CA3632617 rs149772832 |
67 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3632616 rs754942039 |
67 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
rs149772832 CA134114317 |
67 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs988335577 CA134114324 COSM3941438 |
68 | D>E | oesophagus [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
CA3632618 rs752771472 |
69 | M>I | No |
ExAC ClinGen |
|
|
rs758617036 CA3632619 |
70 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs1329060208 CA362712987 |
71 | K>R | No |
gnomAD ClinGen |
|
|
CA3632620 rs778004073 |
73 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1378751120 CA362713012 |
73 | I>T | No |
gnomAD ClinGen |
|
|
rs771299681 CA3632622 |
75 | H>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3632623 rs781604474 |
75 | H>P | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 77 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746373040 CA3632624 |
78 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs770251781 CA3632625 |
79 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs1339292795 CA362713095 |
79 | V>M | No |
ClinGen gnomAD |
|
|
rs773879151 CA3632626 |
80 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs773879151 CA3632627 |
80 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA362713122 rs1458453525 |
81 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs751776397 CA3632638 |
84 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA3632639 rs757532852 |
84 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1256283696 CA362707430 |
85 | I>V | No |
gnomAD ClinGen |
|
|
rs998869219 CA134083836 |
86 | T>I | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 89 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 90 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756602288 CA362707505 |
91 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3632641 rs746255966 |
91 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA134083848 rs576643867 |
91 | Y>H | No |
Ensembl ClinGen |
|
|
CA362707514 rs1486906066 |
92 | G>D | No |
ClinGen TOPMed |
|
|
rs1478065056 CA362707549 |
95 | H>L | No |
TOPMed gnomAD ClinGen |
|
|
CA362707550 rs1478065056 |
95 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1209913480 CA362707561 |
96 | L>F | No |
ClinGen gnomAD |
|
|
CA362707571 rs1487800692 |
97 | I>N | No |
TOPMed ClinGen |
|
|
CA134083863 rs200414486 |
98 | S>T | No |
Ensembl ClinGen |
|
|
rs543079611 CA3632643 |
100 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA134083872 rs989015642 |
101 | E>G | No |
Ensembl ClinGen |
|
|
rs576346939 CA3632645 |
104 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1456160523 CA362707651 |
104 | L>P | No |
ClinGen gnomAD |
|
|
rs1409725885 CA362707668 |
106 | C>R | No |
Ensembl ClinGen |
|
|
CA362707720 rs1398190019 |
109 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1360031821 CA362707717 |
109 | D>N | No |
gnomAD ClinGen |
|
|
CA362707724 rs1398190019 |
109 | D>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1280719286 CA362707738 |
110 | A>V | No |
ClinGen gnomAD |
|
|
CA362707759 rs1341663907 |
112 | K>Q | No |
ClinGen gnomAD |
|
|
CA362707801 rs1226070786 |
113 | W>L | No |
ClinGen TOPMed |
|
|
rs1306756683 CA362707783 |
113 | W>R | No |
Ensembl ClinGen |
|
|
CA134083883 rs954230160 |
114 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs770759731 CA3632648 |
115 | C>S | No |
ExAC gnomAD ClinGen |
|
|
rs759283569 CA3632650 |
116 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775304872 CA3632652 |
118 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305319312 CA362707938 |
120 | K>N | No |
TOPMed ClinGen |
|
|
rs1213806151 CA362707947 |
121 | A>V | No |
ClinGen gnomAD |
|
|
CA134083911 rs933583838 |
122 | H>P | No |
ClinGen TOPMed |
|
|
rs775412822 CA3632670 |
123 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs62621438 CA3632671 |
124 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs551247280 CA3632672 |
126 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3632675 rs200433932 |
129 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362708146 rs548226729 |
132 | H>Q | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs569689711 CA3632678 |
133 | P>A | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3632679 rs754307959 |
133 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs569689711 CA3632677 |
133 | P>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1444149658 CA362708185 |
134 | S>C | No |
ClinGen gnomAD |
|
|
CA362708189 rs1310941584 |
135 | G>S | No |
gnomAD ClinGen |
|
|
CA3632680 rs755512237 |
137 | L>V | No |
ExAC ClinGen |
|
|
rs1048882804 CA134084051 |
138 | A>T | No |
TOPMed ClinGen |
|
|
CA362708260 rs1463974352 |
138 | A>V | No |
TOPMed ClinGen |
|
|
rs1277010938 CA362708276 |
139 | L>P | No |
ClinGen gnomAD |
|
|
CA362708289 rs1350809622 |
140 | S>L | No |
gnomAD ClinGen |
|
|
CA134084069 rs141357694 |
141 | V>A | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs751066241 CA3632682 |
141 | V>I | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 142 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3632684 rs780830226 |
143 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037020277 CA134084074 |
144 | D>G | No |
TOPMed ClinGen |
|
|
rs1258335016 CA362708376 |
146 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA134084086 rs1035617206 |
147 | L>S | No |
ClinGen Ensembl |
|
|
rs753133647 CA3632697 |
149 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226158270 CA362708606 |
152 | L>P | No |
ClinGen TOPMed |
|
|
rs972279400 CA134084628 |
153 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs972279400 CA362708621 |
153 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3632703 rs765782849 |
156 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA362708664 rs753261456 |
156 | R>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3632704 rs753261456 |
156 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401875316 CA362708713 |
160 | I>V | No |
gnomAD ClinGen |
|
|
CA362708727 rs1581583992 |
161 | K>E | No |
ClinGen Ensembl |
|
|
rs559977553 CA3632706 |
161 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 162 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3632707 rs530364577 |
162 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362708738 rs1338913716 |
162 | N>Y | No |
ClinGen TOPMed |
|
|
rs1305414182 CA362708756 |
164 | K>E | No |
TOPMed ClinGen |
|
|
rs1360431859 CA362708766 |
164 | K>N | No |
ClinGen gnomAD |
|
|
CA362708770 rs1414843182 |
165 | Q>E | No |
gnomAD ClinGen |
|
|
rs764693083 CA3632723 |
167 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA362709225 rs1318841475 |
168 | H>R | No |
ClinGen gnomAD |
|
|
rs1230758231 CA362709239 |
169 | I>M | No |
gnomAD ClinGen |
|
|
rs749851403 CA3632724 |
169 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA362709232 rs1406046644 |
169 | I>V | No |
ClinGen TOPMed |
|
|
CA134085303 rs938084538 |
170 | V>E | No |
gnomAD ClinGen |
|
|
rs1239627967 CA362709265 |
172 | W>* | No |
ClinGen gnomAD |
|
|
CA3632725 rs201862329 |
172 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA362709261 rs1348879251 |
172 | W>R | No |
gnomAD ClinGen |
|
|
CA3632726 rs765946190 |
173 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3632727 rs753482373 |
174 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 174 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 175 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3632729 rs778660768 |
176 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3632728 rs754679174 CA362709308 |
176 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748018921 CA3632730 |
177 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362709336 rs1454457308 |
179 | Y>H | No |
gnomAD ClinGen |
|
| TCGA novel | 180 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375444258 CA3632731 |
180 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA362709356 rs1581584807 |
181 | V>I | No |
ClinGen Ensembl |
|
|
CA134085341 rs770529700 |
182 | I>T | No |
gnomAD ClinGen |
|
|
CA134085344 rs916074390 |
183 | I>M | No |
ClinGen TOPMed |
|
|
rs771049452 CA3632735 |
184 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3632739 rs775957449 |
189 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3632738 rs141123017 |
189 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201625393 CA3632737 |
189 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3632743 rs762291816 |
190 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3632742 rs764449402 |
190 | Y>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3632741 rs764449402 |
190 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261693949 CA362709510 |
194 | T>I | No |
gnomAD ClinGen |
|
|
CA134085369 rs929059408 |
195 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3632744 rs765857722 |
196 | S>P | No |
ExAC gnomAD ClinGen |
|
|
rs145305623 CA134085378 |
198 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145305623 CA3632745 |
198 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3632746 rs754597395 |
200 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362709594 rs1427729335 |
201 | I>M | No |
ClinGen TOPMed |
|
|
rs1177665734 CA362709586 |
201 | I>T | No |
ClinGen gnomAD |
|
|
rs17856340 CA134085402 |
201 | I>V | No |
Ensembl ClinGen |
|
| TCGA novel | 204 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 206 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268338228 CA362709675 |
207 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1235951252 CA362709667 |
207 | I>N | No |
gnomAD ClinGen |
|
|
CA3632748 rs374642668 |
208 | S>F | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1456355850 COSM1071797 CA362709733 |
213 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA134085409 rs1001055212 |
213 | L>P | No |
ClinGen Ensembl |
|
|
CA134085529 rs112971132 |
215 | E>D | No |
ClinGen TOPMed |
|
|
CA3632766 rs759073628 |
215 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs1462708228 CA362709779 |
215 | E>K | No |
gnomAD ClinGen |
|
|
rs1042628376 CA134085536 |
220 | V>M | No |
TOPMed ClinGen |
|
|
rs1340442424 CA362709851 |
223 | D>E | No |
ClinGen gnomAD |
|
|
CA3632769 rs762579782 |
223 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA134085539 rs903255182 |
225 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1581585109 CA362709871 |
226 | V>G | No |
ClinGen Ensembl |
|
|
rs1019064119 CA134085558 |
226 | V>I | No |
ClinGen Ensembl |
|
|
CA134085570 rs751362115 |
227 | I>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751362115 CA3632771 |
227 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362709886 rs1581585124 |
229 | F>V | No |
Ensembl ClinGen |
|
| TCGA novel | 230 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3429824 CA362709899 rs1248330092 |
230 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3632772 rs757218948 |
231 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA362709902 rs1227761972 |
231 | D>Y | No |
ClinGen gnomAD |
|
|
rs1482023186 CA362709908 |
232 | C>R | No |
TOPMed gnomAD ClinGen |
|
|
CA3632773 rs781299034 |
232 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
CA134085591 rs1035653928 |
233 | D>N | No |
TOPMed ClinGen |
|
|
CA3632775 rs756266685 |
235 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA134085606 rs960066635 |
235 | L>V | No |
TOPMed ClinGen |
|
|
rs780060997 CA3632776 |
236 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs1479490155 CA362709939 |
237 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1211316676 CA362709945 |
238 | L>F | No |
TOPMed ClinGen |
|
|
rs1175682038 COSM1439566 CA362709957 |
240 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3632778 rs768806860 |
242 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA362709985 rs1436731359 |
243 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA134085624 rs768386985 |
247 | R>K | No |
Ensembl ClinGen |
|
|
CA362710091 rs1389597755 |
248 | V>L | No |
TOPMed ClinGen |
|
|
rs970831289 CA134087229 |
255 | E>V | No |
TOPMed ClinGen |
|
|
CA3632796 rs780155614 |
257 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3632797 rs780155614 |
257 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774340999 CA3632798 |
259 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA362710266 rs1317445830 |
259 | H>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs926366590 CA134087240 |
260 | H>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA362710299 rs1469627432 |
261 | V>L | No |
gnomAD ClinGen |
|
|
CA3632799 rs779029025 |
265 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3632802 rs778178362 |
267 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs1179031663 CA362710417 |
272 | K>R | No |
ClinGen gnomAD |
|
|
CA3632803 rs747502007 |
273 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs771392427 CA3632804 |
275 | K>T | No |
ExAC ClinGen |
|
|
rs777647099 CA134087270 |
276 | L>F | No |
Ensembl ClinGen |
|
|
CA134087274 rs17850695 |
277 | K>E | No |
Ensembl ClinGen |
|
|
CA3632807 rs748769773 |
279 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs748769773 CA362710512 |
279 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA134087288 rs956362330 |
279 | D>Y | No |
Ensembl ClinGen |
|
|
rs543748909 CA3632808 |
280 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1330440499 CA362710788 |
281 | K>Q | No |
ClinGen gnomAD |
|
|
CA3632828 rs774061851 |
281 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs150098092 CA3632829 |
282 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362710803 rs1446641274 |
282 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA134088352 rs988724197 |
284 | P>S | No |
ClinGen TOPMed |
|
|
rs1331616971 CA362710843 |
286 | L>I | No |
TOPMed ClinGen |
|
|
CA362710846 rs1301929326 |
286 | L>S | No |
TOPMed ClinGen |
|
|
CA3632830 rs771887841 |
287 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1422201546 CA362710852 |
287 | L>P | No |
TOPMed ClinGen |
|
|
rs1371940259 CA362710855 |
288 | C>S | No |
ClinGen TOPMed |
|
|
CA362710868 rs1233762706 |
289 | E>A | No |
ClinGen gnomAD |
|
|
CA362710877 rs1168805160 |
290 | I>M | No |
TOPMed ClinGen |
|
|
CA134088355 rs947557583 |
292 | T>I | No |
ClinGen Ensembl |
|
|
rs1409058274 CA362710888 |
292 | T>S | No |
ClinGen TOPMed |
|
|
rs866669053 CA134088356 |
293 | N>I | No |
Ensembl ClinGen |
|
|
CA362710903 rs1193312289 |
294 | A>V | No |
TOPMed ClinGen |
|
|
rs759587941 CA3632835 |
297 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs759587941 CA362710920 |
297 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs541330686 CA3632837 |
299 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1484061175 CA362710982 |
307 | A>T | No |
ClinGen TOPMed |
|
|
CA362710986 rs1193510970 |
307 | A>V | No |
ClinGen gnomAD |
|
|
rs764331618 CA3632840 |
309 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs971167647 CA134088433 |
311 | E>K | No |
TOPMed ClinGen |
|
|
CA134088446 rs11541087 |
313 | L>P | No |
Ensembl ClinGen |
|
| TCGA novel | 314 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751862442 CA3632841 |
314 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757564742 CA3632842 |
315 | P>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 320 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781668945 CA3632844 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762152013 CA3632860 |
325 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA3632862 rs750835827 |
327 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs370741204 CA3632861 |
327 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 329 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 332 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3632864 rs201629252 |
333 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362711196 rs1441369764 |
335 | G>S | No |
ClinGen gnomAD |
|
|
rs375199458 CA3632867 |
338 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757989245 CA3632866 |
338 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA3632869 rs770667105 |
340 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3632871 rs745708831 |
342 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs149331925 CA3632870 |
342 | E>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs190974202 CA3632873 |
344 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs190974202 CA3632874 |
344 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
COSM1071803 CA3632872 rs769673112 |
344 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3632876 rs774539405 |
345 | S>P | No |
ExAC gnomAD ClinGen |
|
|
rs1352705212 CA362711317 |
348 | N>H | No |
ClinGen Ensembl |
|
|
CA3632877 rs761905760 |
350 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1417396834 CA362711359 |
351 | K>E | No |
TOPMed ClinGen |
|
|
CA3632878 rs147437498 COSM1439573 |
352 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3632879 rs750701531 |
352 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs532654988 CA362711387 |
353 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3632880 rs532654988 |
353 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3632882 rs548071451 |
355 | T>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs138082481 CA3632881 |
355 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362711458 rs1468653869 |
357 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA362711454 rs1468653869 |
357 | D>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA3632884 rs763494608 |
358 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3632885 rs34857240 |
359 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3632887 rs147259600 |
362 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1381592765 CA362711597 |
362 | T>I | No |
TOPMed ClinGen |
|
| TCGA novel | 364 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1561895989 CA362711661 |
366 | G>S | No |
ClinGen Ensembl |
|
|
rs768619766 CA3632892 |
368 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1437708870 CA362711704 |
368 | I>T | No |
ClinGen TOPMed |
|
|
rs749199819 CA3632891 |
368 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs201265248 CA3632893 |
369 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA362711760 rs1296638087 |
372 | K>R | No |
ClinGen gnomAD |
|
|
rs72821574 CA3632894 |
376 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150834153 CA3632895 |
378 | M>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA134088835 rs747636201 |
384 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1383628115 CA362711927 |
384 | K>R | No |
TOPMed ClinGen |
|
| TCGA novel | 385 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3632897 rs139264536 |
386 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA134088874 rs995826338 |
388 | I>M | No |
TOPMed ClinGen |
|
|
rs537437372 CA3632898 |
388 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1340931492 CA362711996 |
389 | K>R | No |
ClinGen gnomAD |
|
|
CA362712006 rs1195879678 |
390 | T>A | No |
ClinGen gnomAD |
|
|
rs764243590 CA3632899 |
390 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764243590 CA3632900 |
390 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362712024 rs1484665335 |
391 | M>R | No |
ClinGen gnomAD |
|
|
rs1561896081 CA362712019 |
391 | M>V | No |
ClinGen Ensembl |
|
|
CA3632902 rs760088755 |
392 | Q>* | No |
ExAC gnomAD ClinGen |
|
|
CA3632903 rs765805578 |
392 | Q>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3632904 rs750985706 |
393 | Q>S | No |
ClinGen ExAC |
No associated diseases with Q9NWT1
8 regional properties for Q9NWT1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 29 - 70 | IPR001680-1 |
| repeat | WD40 repeat | 71 - 160 | IPR001680-2 |
| repeat | WD40 repeat | 194 - 231 | IPR001680-3 |
| repeat | WD40 repeat | 234 - 284 | IPR001680-4 |
| conserved_site | WD40 repeat, conserved site | 138 - 152 | IPR019775 |
| repeat | G-protein beta WD-40 repeat | 96 - 110 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 138 - 152 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 262 - 276 | IPR020472-3 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| negative regulation of signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. |
| regulation of signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator. |
| ribosomal large subunit biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a large ribosomal subunit; includes transport to the sites of protein synthesis. |
| roof of mouth development | The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELVAGCYEQ | VLFGFAVHPE | PEACGDHEQW | TLVADFTHHA | HTASLSAVAV | NSRFVVTGSK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DETIHIYDMK | KKIEHGALVH | HSGTITCLKF | YGNRHLISGA | EDGLICIWDA | KKWECLKSIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AHKGQVTFLS | IHPSGKLALS | VGTDKTLRTW | NLVEGRSAFI | KNIKQNAHIV | EWSPRGEQYV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VIIQNKIDIY | QLDTASISGT | ITNEKRISSV | KFLSESVLAV | AGDEEVIRFF | DCDSLVCLCE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FKAHENRVKD | MFSFEIPEHH | VIVSASSDGF | IKMWKLKQDK | KVPPSLLCEI | NTNARLTCLG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VWLDKVADMK | ESLPPAAEPS | PVSKEQSKIG | KKEPGDTVHK | EEKRSKPNTK | KRGLTGDSKK |
| 370 | 380 | 390 | |||
| ATKESGLIST | KKRKMVEMLE | KKRKKKKIKT | MQ |