Q96T49
PR
Gene name |
PPP1R16B (ANKRD4, KIAA0823) |
Protein name |
Protein phosphatase 1 regulatory inhibitor subunit 16B |
Names |
Ankyrin repeat domain-containing protein 4, CAAX box protein TIMAP, TGF-beta-inhibited membrane-associated protein, hTIMAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26051 |
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 Q96T49
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96T49-F1 | Predicted | AlphaFoldDB |
379 variants for Q96T49
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs915233002 CA314446072 |
5 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA314446068 rs988402355 COSM1221753 |
5 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1198330170 CA408898303 |
6 | D>E | No |
ClinGen gnomAD |
|
|
rs1447638747 CA408898300 |
6 | D>V | No |
ClinGen gnomAD |
|
|
CA408898326 rs1194530537 |
9 | T>A | No |
ClinGen gnomAD |
|
|
rs1380033417 CA408898332 |
9 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1380033417 CA408898330 |
9 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408898338 rs1333305780 |
10 | E>Q | No |
ClinGen TOPMed |
|
|
CA408898372 rs1466021966 |
13 | L>V | No |
ClinGen TOPMed |
|
|
rs983356409 CA314446082 |
15 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 16 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601245098 CA408898430 |
17 | V>G | No |
ClinGen Ensembl |
|
|
CA408898420 rs1160777327 |
17 | V>M | No |
ClinGen gnomAD |
|
|
rs1320943562 CA408898490 |
23 | L>M | No |
ClinGen gnomAD |
|
|
rs781701776 CA9856018 |
24 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 24 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781701776 CA314446091 |
24 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408898517 rs1441128640 |
25 | A>V | No |
ClinGen gnomAD |
|
|
rs1374352581 CA408898573 |
29 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1240988278 CA408898580 |
30 | R>Q | No |
ClinGen gnomAD |
|
|
CA314446096 rs1050958078 |
31 | A>P | No |
ClinGen TOPMed |
|
|
rs1280060316 CA408898596 |
31 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1355471156 CA408898694 |
36 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764690195 CA9856022 |
41 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1358091920 CA408898832 |
43 | D>Y | No |
ClinGen TOPMed |
|
|
rs1237856943 CA408898873 |
45 | Q>K | No |
ClinGen gnomAD |
|
|
rs1243545807 CA408898896 |
46 | H>N | No |
ClinGen TOPMed |
|
|
rs909247136 CA314446121 |
47 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM3423641 CA408898926 rs1270812580 |
47 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs867665866 CA314446123 |
49 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1379956482 CA408898984 |
50 | K>R | No |
ClinGen TOPMed |
|
|
rs1364744272 CA408899006 |
51 | H>Q | No |
ClinGen gnomAD |
|
|
rs375915012 CA9856025 |
53 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9856026 rs375915012 |
53 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408899030 rs1395989149 |
54 | K>E | No |
ClinGen gnomAD |
|
|
rs1461549690 CA408899049 |
55 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 56 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754843485 CA408899126 |
57 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754843485 CA9856027 |
57 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408899156 rs1329227044 |
59 | G>C | No |
ClinGen gnomAD |
|
|
CA9856030 rs756077958 |
59 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408899152 rs1329227044 |
59 | G>S | No |
ClinGen gnomAD |
|
|
CA9856031 rs559211120 |
60 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408899177 rs1295098231 |
60 | R>L | No |
ClinGen gnomAD |
|
|
CA314446156 rs916682056 |
61 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA408899193 rs1234041875 |
61 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1234041875 CA408899192 |
61 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408899216 rs756437510 CA9856033 |
62 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408899209 rs1379089678 |
62 | K>T | No |
ClinGen gnomAD |
|
|
CA9856035 rs144779599 |
63 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408899261 rs1348542615 |
65 | S>Y | No |
ClinGen gnomAD |
|
|
CA408899287 rs1251633174 |
67 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9856037 rs775798506 |
68 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747535279 CA9856038 |
69 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1453704131 CA408899342 |
70 | V>L | No |
ClinGen TOPMed |
|
|
CA9856040 rs776945736 |
71 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA408899372 rs1463154891 |
72 | L>V | No |
ClinGen gnomAD |
|
|
rs765939503 CA9856042 |
77 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1394123512 CA408899495 |
79 | N>K | No |
ClinGen gnomAD |
|
|
CA9856043 COSM723725 rs774196620 |
81 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1356087768 CA408899559 |
81 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1356816150 CA408899562 COSM1165833 |
82 | E>K | pancreas large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs776263972 CA9856063 |
85 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9856064 rs774942877 |
85 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015519964 CA314443711 |
87 | F>L | No |
ClinGen TOPMed |
|
|
CA408896926 rs35388334 |
91 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763743444 CA9856066 |
92 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408896943 rs1568675860 |
94 | P>S | No |
ClinGen Ensembl |
|
|
CA9856067 rs753858488 |
97 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765364629 CA9856069 |
101 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312218631 CA408897335 |
111 | D>N | No |
ClinGen TOPMed |
|
|
CA9856096 rs778459886 |
113 | F>C | No |
ClinGen ExAC |
|
|
CA408897369 rs1480858382 |
115 | E>A | No |
ClinGen gnomAD |
|
|
CA408897381 rs1255388704 |
117 | V>L | No |
ClinGen gnomAD |
|
|
rs1474264511 CA408897394 |
119 | L>V | No |
ClinGen gnomAD |
|
|
CA9856098 rs771658390 |
120 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9856101 rs369792119 |
121 | L>I | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 122 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308477355 CA408897418 |
123 | H>R | No |
ClinGen TOPMed |
|
|
CA9856104 rs769537525 |
129 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408897461 rs1302767587 |
130 | K>Q | No |
ClinGen gnomAD |
|
|
CA408897465 rs1354037204 |
130 | K>R | No |
ClinGen gnomAD |
|
|
rs1164456931 CA408897481 |
132 | N>S | No |
ClinGen TOPMed |
|
|
CA408897519 rs1316786416 |
138 | L>V | No |
ClinGen gnomAD |
|
|
CA9856109 rs759604187 |
145 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209245807 CA408897572 |
146 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408897627 rs1258270176 |
154 | V>F | No |
ClinGen gnomAD |
|
|
rs1258270176 CA408897625 |
154 | V>I | No |
ClinGen gnomAD |
|
|
CA408897626 rs1258270176 |
154 | V>L | No |
ClinGen gnomAD |
|
|
COSM3799525 rs1475151169 CA408897632 |
155 | Q>* | urinary_tract Variant assessed as Somatic; 4.633e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA408898334 rs1243927356 |
158 | A>T | No |
ClinGen gnomAD |
|
|
CA314446574 rs866362326 |
159 | D>N | No |
ClinGen Ensembl |
|
|
rs770787524 CA9856126 |
162 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1174799505 CA408898423 |
164 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774280648 CA9856127 |
165 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs767589358 CA9856129 |
166 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345295466 CA408898493 |
169 | M>T | No |
ClinGen gnomAD |
|
|
rs969540252 CA314446584 |
170 | P>A | No |
ClinGen Ensembl |
|
|
CA314446585 rs867094991 |
172 | D>N | No |
ClinGen gnomAD |
|
|
CA408898625 rs1308445357 |
175 | E>A | No |
ClinGen gnomAD |
|
|
CA9856131 rs139690056 |
175 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1348377306 CA408898701 |
178 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9856132 rs764616172 |
179 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 179 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM322784 rs868784227 CA314446606 |
184 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA408898848 rs1213329170 |
185 | T>I | No |
ClinGen gnomAD |
|
|
rs571960163 CA9856134 |
187 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9856135 rs765665053 |
188 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 190 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856136 rs750901221 |
191 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9856156 rs750940928 |
191 | G>V | No |
ClinGen ExAC |
|
|
rs1419366652 CA408900032 |
193 | T>N | No |
ClinGen gnomAD |
|
|
CA408900058 rs1477838674 |
196 | K>N | No |
ClinGen TOPMed |
|
|
CA9856159 rs752218436 |
199 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755556432 CA9856160 |
200 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 201 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 201 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856161 rs777435988 |
201 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408900156 rs1267499880 |
202 | V>L | No |
ClinGen TOPMed |
|
|
CA9856162 rs753483544 |
203 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856164 rs576467222 |
204 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9856163 rs576467222 |
204 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408900201 rs1601305657 |
206 | Q>K | No |
ClinGen Ensembl |
|
|
rs745855682 CA408900234 |
210 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs745855682 CA9856165 |
210 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1411738 rs772118838 CA9856166 |
210 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9856169 rs769833387 |
217 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9856170 COSM1221748 rs776739020 |
218 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9856172 rs770094641 |
219 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs763246836 CA9856174 |
220 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9856173 rs773613554 |
220 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408900328 rs1320544856 |
224 | W>R | No |
ClinGen TOPMed |
|
|
CA314447608 rs918589174 |
230 | A>T | No |
ClinGen gnomAD |
|
|
rs1168341035 CA408900376 |
231 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1168341035 CA408900375 |
231 | T>P | No |
ClinGen gnomAD |
|
|
CA9856202 rs766252443 |
236 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408900847 rs766252443 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9856203 rs751586142 |
238 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1418477961 CA408900912 |
238 | A>T | No |
ClinGen gnomAD |
|
|
rs754961247 CA9856204 |
239 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA408900932 rs754961247 |
239 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs780933780 CA9856205 |
240 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA408901011 rs376912760 |
243 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9856207 rs376912760 |
243 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408901008 rs55658640 |
243 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749491667 CA9856209 |
244 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771328425 CA9856210 |
245 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA314449529 COSM1533334 rs887277295 |
247 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9856214 rs775797710 |
251 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs772651418 CA9856213 |
251 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764606541 CA9856216 |
254 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376987738 CA9856218 |
254 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376987738 CA9856217 |
254 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568683664 CA408901225 |
255 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 258 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs183468536 CA9856219 |
258 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408901415 rs1266314268 |
260 | W>C | No |
ClinGen TOPMed |
|
|
rs751387099 CA9856220 |
260 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA408901436 rs1252502884 |
261 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1319662693 CA408901471 |
262 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 263 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1034116206 CA314449554 |
264 | E>Q | No |
ClinGen TOPMed |
|
|
rs1472875900 CA408901622 |
265 | P>S | No |
ClinGen gnomAD |
|
|
CA408901652 rs1240706685 |
266 | L>V | No |
ClinGen TOPMed |
|
|
CA314449559 rs74482095 |
270 | A>G | No |
ClinGen Ensembl |
|
|
CA408901773 rs1160076700 |
271 | F>I | No |
ClinGen gnomAD |
|
|
CA408901842 rs1417224685 |
273 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408902198 rs760522412 CA9856242 |
276 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs555149000 CA9856243 |
277 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753923478 CA9856244 |
278 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 278 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360912156 CA408902319 |
283 | S>F | No |
ClinGen gnomAD |
|
|
rs779141498 CA9856246 |
287 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758849642 CA9856248 |
292 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs780252902 CA9856249 |
293 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314450319 rs944548872 |
294 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 296 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212415204 CA408902533 |
297 | M>L | No |
ClinGen gnomAD |
|
|
CA9856250 rs747620043 |
297 | M>R | No |
ClinGen ExAC |
|
|
rs1568684172 CA408902561 |
299 | I>V | No |
ClinGen Ensembl |
|
|
CA408903148 rs1601311381 |
300 | D>G | No |
ClinGen Ensembl |
|
|
CA408903195 rs1437139372 |
306 | E>D | No |
ClinGen gnomAD |
|
|
rs1332572122 CA408903191 |
306 | E>Q | No |
ClinGen gnomAD |
|
|
CA408903204 rs1367888697 |
307 | F>L | No |
ClinGen TOPMed |
|
|
CA408903209 rs1278829991 |
308 | K>R | No |
ClinGen gnomAD |
|
|
rs539737419 CA9856277 |
309 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1383448343 CA408903237 |
313 | E>V | No |
ClinGen TOPMed |
|
|
CA408903243 rs1213267778 |
314 | L>V | No |
ClinGen gnomAD |
|
|
CA408903274 rs1464464287 |
318 | H>D | No |
ClinGen Ensembl |
|
|
CA9856280 rs761710396 |
319 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1007737105 CA314451062 |
322 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419864503 CA408903357 |
329 | K>N | No |
ClinGen TOPMed |
|
|
CA408903375 rs1183786508 |
332 | L>W | No |
ClinGen gnomAD |
|
|
rs1438914042 CA408903379 |
333 | S>C | No |
ClinGen gnomAD |
|
|
rs1601311518 CA408903381 |
333 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 333 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856282 rs773154570 |
334 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408903392 rs1201021963 |
335 | R>K | No |
ClinGen gnomAD |
|
|
rs751756577 CA9856286 |
339 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751756577 CA9856285 COSM1533333 |
339 | A>T | lung Variant assessed as Somatic; 4.623e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408903421 rs1221631814 |
340 | G>S | No |
ClinGen TOPMed |
|
|
rs759276598 CA9856287 |
342 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA408903441 rs1261936943 |
343 | G>R | No |
ClinGen TOPMed |
|
|
CA408903470 rs1341896344 |
345 | V>A | No |
ClinGen gnomAD |
|
|
rs1340426568 CA408903476 |
346 | V>G | No |
ClinGen gnomAD |
|
|
rs768049487 CA9856305 |
347 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408903483 rs1242087219 |
348 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9856306 rs753122696 |
349 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9856307 rs753122696 |
349 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9856308 rs764537147 |
352 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1257636867 CA408903511 |
353 | D>G | No |
ClinGen gnomAD |
|
|
rs925499759 CA314451320 |
353 | D>N | No |
ClinGen TOPMed |
|
|
CA408903523 rs1601311757 |
355 | T>P | No |
ClinGen Ensembl |
|
|
rs1191977592 CA408903561 |
360 | K>R | No |
ClinGen gnomAD |
|
|
rs754613604 CA9856313 |
362 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA408903574 rs1601311789 |
362 | Y>D | No |
ClinGen Ensembl |
|
| TCGA novel | 368 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856315 rs140211111 COSM97821 |
371 | R>Q | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA314451340 rs868199379 |
371 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA408903705 rs1601311840 |
372 | S>R | No |
ClinGen Ensembl |
|
|
CA408903714 rs1568684735 |
373 | A>V | No |
ClinGen Ensembl |
|
|
rs145363233 CA9856317 |
376 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774557229 COSM186787 CA9856320 |
378 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770981411 CA9856319 |
378 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856321 rs142387028 |
379 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA314451349 rs201292506 |
380 | S>Y | No |
ClinGen Ensembl |
|
|
rs772424757 CA9856322 |
382 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA314451368 rs944245406 |
383 | N>S | No |
ClinGen Ensembl |
|
|
CA408903898 COSM1262849 rs1298784572 |
384 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA408903924 rs1347856864 |
386 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 387 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856325 rs563328325 |
388 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1231674795 CA408903974 |
388 | E>K | No |
ClinGen gnomAD |
|
|
CA408904026 rs1256694105 |
391 | T>A | No |
ClinGen gnomAD |
|
|
CA314451376 rs901625179 |
391 | T>I | No |
ClinGen gnomAD |
|
|
rs901625179 CA408904034 |
391 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408904043 rs1601311953 |
392 | D>H | No |
ClinGen Ensembl |
|
|
CA9856326 rs764500209 |
395 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs894370197 CA314451378 |
396 | K>T | No |
ClinGen TOPMed |
|
|
CA314451395 rs1013899924 COSM3963560 |
397 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 398 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 399 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314459204 rs948850562 |
406 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1409813150 CA408907935 |
412 | P>L | No |
ClinGen gnomAD |
|
|
rs765739301 CA9856347 |
413 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM723714 rs759069655 CA9856349 |
417 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408908157 rs1421382642 |
421 | D>H | No |
ClinGen gnomAD |
|
|
CA408908185 rs1414400963 |
422 | M>L | No |
ClinGen TOPMed |
|
|
CA408908210 rs143754885 |
423 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs143754885 CA314459244 |
423 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs752412929 CA9856351 |
424 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9856352 rs755775824 |
427 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs763594050 CA9856353 |
429 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA314459299 rs892129660 |
429 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA408908383 rs1351755783 |
430 | A>D | No |
ClinGen gnomAD |
|
|
rs753669205 CA9856354 |
431 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408908445 rs1319703854 |
432 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs921298952 CA314459334 |
434 | A>S | No |
ClinGen TOPMed |
|
|
CA408908539 rs1202894634 |
435 | Y>C | No |
ClinGen gnomAD |
|
|
CA9856356 rs779011932 |
435 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 436 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413432102 CA408908712 |
441 | N>S | No |
ClinGen gnomAD |
|
|
rs780281154 CA9856359 |
442 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs192588185 CA9856361 |
443 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1350799658 CA408908756 |
443 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9856360 rs747255458 |
443 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9856363 rs748576878 |
444 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA408908855 rs773747231 |
447 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9856365 rs773747231 |
447 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA408908878 rs201078949 CA9856367 |
448 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9856366 rs763446243 |
448 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9856368 rs775077312 |
450 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs763836612 CA9856370 |
452 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753378652 CA9856371 |
454 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9856372 rs560349096 |
455 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1232847746 CA408909033 |
455 | M>V | No |
ClinGen TOPMed |
|
|
rs1289948449 CA408909112 |
457 | Y>C | No |
ClinGen TOPMed |
|
|
rs765096493 CA9856373 |
459 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856375 rs758398848 |
462 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1236955516 COSM443805 CA408909271 |
462 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 463 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856376 rs780085035 |
463 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9856378 rs754974944 |
464 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408909310 rs754974944 |
464 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856380 rs142971409 COSM1663642 |
465 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs770210301 CA9856381 |
465 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs567999418 CA9856382 |
466 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1601321407 CA408909342 |
466 | T>P | No |
ClinGen Ensembl |
|
|
rs771430890 CA9856384 |
467 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771430890 CA314459613 |
467 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749595463 CA9856383 |
467 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408909421 rs1361022239 |
468 | P>L | No |
ClinGen gnomAD |
|
|
rs199736651 CA9856388 |
469 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1419986485 CA408909492 |
472 | Y>C | No |
ClinGen TOPMed |
|
|
CA9856389 rs761556740 |
472 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
COSM28462 rs61752055 CA9856390 |
473 | K>Q | kidney urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA314459673 rs974048330 |
476 | S>G | No |
ClinGen TOPMed |
|
|
COSM300912 rs201345539 CA9856391 |
479 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs202247103 CA314459693 |
480 | L>F | No |
ClinGen 1000Genomes |
|
|
rs1213186286 CA408909584 |
482 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 483 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856393 rs139965092 |
483 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751403317 CA9856394 |
485 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408909601 rs1238196327 |
485 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA408909611 rs1568689236 |
486 | Q>H | No |
ClinGen Ensembl |
|
|
CA314459745 rs970297088 |
487 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs755135419 CA9856395 |
487 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856396 rs781126120 |
488 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856397 rs753021300 |
489 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1601321581 CA408909621 |
489 | A>P | No |
ClinGen Ensembl |
|
|
rs1415622812 CA408909630 |
490 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368283477 CA408909634 |
491 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 492 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856399 rs777903876 |
493 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199518382 CA9856400 |
494 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771232491 CA9856401 |
495 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA314459852 rs868566977 |
496 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 501 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314459854 rs966488405 |
503 | G>D | No |
ClinGen Ensembl |
|
|
CA408909723 rs1452642472 |
505 | S>G | No |
ClinGen TOPMed |
|
|
rs1435700402 CA408909735 |
506 | M>R | No |
ClinGen gnomAD |
|
|
rs746327206 CA9856403 |
507 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA408909744 rs1365587354 |
508 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 508 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM186795 CA9856404 rs368927917 |
509 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9856406 rs761354127 |
511 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 512 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408909788 rs1207021358 |
514 | S>N | No |
ClinGen gnomAD |
|
|
rs769578356 COSM1221750 CA9856407 |
518 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA314459926 rs749147340 |
518 | A>V | No |
ClinGen Ensembl |
|
|
rs866564102 CA314459946 |
519 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9856409 rs377150379 |
519 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9856412 rs759377582 |
520 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA314459970 rs957753019 |
522 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9856414 rs752778589 |
523 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA408909846 rs1389119723 |
524 | R>G | No |
ClinGen gnomAD |
|
|
rs756145703 CA9856415 CA408909851 |
524 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856416 rs777989802 |
525 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9856417 rs570477795 |
527 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA314459998 rs867176255 |
529 | S>R | No |
ClinGen gnomAD |
|
|
rs746448700 CA408909896 |
531 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779137976 CA9856419 |
531 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408909905 rs1302509352 |
533 | T>A | No |
ClinGen TOPMed |
|
|
CA408909915 rs1290376033 |
534 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9856423 rs369680647 |
538 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 539 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142224617 COSM1026716 CA9856425 |
539 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1471289374 CA408909953 |
540 | T>I | No |
ClinGen gnomAD |
|
|
CA9856427 rs535745355 |
542 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1038411557 CA314460041 |
543 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1415653841 CA408909979 |
544 | P>L | No |
ClinGen gnomAD |
|
|
rs1161293308 CA408909976 |
544 | P>T | No |
ClinGen gnomAD |
|
|
COSM3707754 rs774028131 CA9856428 |
545 | P>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs898350060 CA314460053 |
545 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1453152946 CA408909986 |
546 | L>F | No |
ClinGen TOPMed |
|
|
rs1568689482 CA408909995 |
547 | L>F | No |
ClinGen Ensembl |
|
|
CA9856429 rs759307896 |
550 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA408910017 rs1370034053 |
550 | K>R | No |
ClinGen gnomAD |
|
|
rs767385655 CA9856430 |
552 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408910035 rs1355932398 |
553 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9856431 rs775353338 |
553 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs754753355 CA314460096 |
553 | I>V | No |
ClinGen Ensembl |
|
|
rs760788732 CA9856432 |
554 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | M>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs937828854 CA314460113 |
556 | M>K | No |
ClinGen TOPMed |
|
|
rs764125118 CA9856433 |
556 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs76785667 CA314460116 |
563 | C>W | No |
ClinGen Ensembl |
|
|
rs1274461835 CA408910171 |
563 | C>Y | No |
ClinGen gnomAD |
|
|
CA408910205 rs1482355665 |
565 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9856434 rs754122824 |
565 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
No associated diseases with Q96T49
2 regional properties for Q96T49
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Ankyrin repeat | 67 - 165 | IPR002110-1 |
| repeat | Ankyrin repeat | 216 - 293 | IPR002110-2 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| myosin phosphatase regulator activity | Binds to and modulates of the activity of myosin phosphatase. |
| protein phosphatase 1 binding | Binding to a protein phosphatase 1. |
| protein phosphatase regulator activity | Binds to and modulates the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| establishment of endothelial barrier | The establishment of a barrier between endothelial cell layers, such as those in the brain, lung or intestine, to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition. |
| negative regulation of peptidyl-serine dephosphorylation | Any process that stops, prevents or reduces the frequency, rate or extent of peptidyl-serine dephosphorylation. |
| negative regulation of protein dephosphorylation | Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a protein. |
| positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis | Any process that activates or increases the frequency, rate or extent of blood vessel endothelial cell proliferation involved in sprouting angiogenesis. |
| positive regulation of endothelial cell proliferation | Any process that activates or increases the rate or extent of endothelial cell proliferation. |
| positive regulation of protein dephosphorylation | Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a protein. |
| regulation of filopodium assembly | Any process that modulates the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone. |
| regulation of phosphatidylinositol 3-kinase signaling | Any process that modulates the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
| regulation of protein dephosphorylation | Any process that modulates the frequency, rate or extent of removal of phosphate groups from a protein. |
| regulation of sprouting angiogenesis | Any process that modulates the frequency, rate or extent of sprouting angiogenesis. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BZL4 | PPP1R12C | Protein phosphatase 1 regulatory subunit 12C | Homo sapiens (Human) | PR |
| O60237 | PPP1R12B | Protein phosphatase 1 regulatory subunit 12B | Homo sapiens (Human) | PR |
| Q8BG95 | Ppp1r12b | Protein phosphatase 1 regulatory subunit 12B | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASHVDLLTE | LQLLEKVPTL | ERLRAAQKRR | AQQLKKWAQY | EQDLQHRKRK | HERKRSTGGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKKVSFEASV | ALLEASLRND | AEEVRYFLKN | KVSPDLCNED | GLTALHQCCI | DNFEEIVKLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSHGANVNAK | DNELWTPLHA | AATCGHINLV | KILVQYGADL | LAVNSDGNMP | YDLCEDEPTL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DVIETCMAYQ | GITQEKINEM | RVAPEQQMIA | DIHCMIAAGQ | DLDWIDAQGA | TLLHIAGANG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YLRAAELLLD | HGVRVDVKDW | DGWEPLHAAA | FWGQMQMAEL | LVSHGASLSA | RTSMDEMPID |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LCEEEEFKVL | LLELKHKHDV | IMKSQLRHKS | SLSRRTSSAG | SRGKVVRRAS | LSDRTNLYRK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EYEGEAILWQ | RSAAEDQRTS | TYNGDIRETR | TDQENKDPNP | RLEKPVLLSE | FPTKIPRGEL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DMPVENGLRA | PVSAYQYALA | NGDVWKVHEV | PDYSMAYGNP | GVADATPPWS | SYKEQSPQTL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LELKRQRAAA | KLLSHPFLST | HLGSSMARTG | ESSSEGKAPL | IGGRTSPYSS | NGTSVYYTVT |
| 550 | 560 | ||||
| SGDPPLLKFK | APIEEMEEKV | HGCCRIS |