Q16186
Gene name |
ADRM1 (GP110) |
Protein name |
Proteasomal ubiquitin receptor ADRM1 |
Names |
110 kDa cell membrane glycoprotein, Gp110, Adhesion-regulating molecule 1, ARM-1, Proteasome regulatory particle non-ATPase 13, hRpn13, Rpn13 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11047 |
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
19 structures for Q16186
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2KQZ | NMR | - | A | 253-407 | PDB |
| 2KR0 | NMR | - | A | 1-407 | PDB |
| 2L5V | NMR | - | A | 260-407 | PDB |
| 2MKZ | NMR | - | A | 270-407 | PDB |
| 2NBV | NMR | - | A | 1-150 | PDB |
| 4UEL | X-ray | 230 A | C | 266-388 | PDB |
| 4UEM | X-ray | 282 A | B | 266-388 | PDB |
| 4WLQ | X-ray | 285 A | B | 286-384 | PDB |
| 4WLR | X-ray | 200 A | B | 285-386 | PDB |
| 5IRS | X-ray | 180 A | A | 2-150 | PDB |
| 5V1Y | X-ray | 142 A | A/B | 19-132 | PDB |
| 5V1Z | X-ray | 200 A | A/B | 19-132 | PDB |
| 5YMY | NMR | - | C | 1-150 | PDB |
| 6CO4 | NMR | - | A | 1-150 | PDB |
| 6OI4 | X-ray | 176 A | A/B | 20-132 | PDB |
| 6UYI | NMR | - | A | 1-150 | PDB |
| 6UYJ | NMR | - | A | 1-150 | PDB |
| 7KXI | NMR | - | A | 1-150 | PDB |
| AF-Q16186-F1 | Predicted | AlphaFoldDB |
321 variants for Q16186
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM1179094 RCV000149189 CA174535 rs193921052 |
218 | P>Q | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1433148831 CA409526289 |
3 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9938889 rs748129088 |
7 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs779163179 CA9938891 |
9 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs745995688 CA409526330 |
10 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745995688 CA9938892 |
10 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9938894 rs775922708 |
12 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376432621 CA9938893 |
12 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9938895 rs760882891 |
13 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA317216881 rs760882891 |
13 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9938897 rs776958178 |
14 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA409526353 rs1396753568 |
15 | S>P | No |
ClinGen gnomAD |
|
|
CA317216901 rs989027684 |
16 | R>Q | No |
ClinGen gnomAD |
|
|
rs762417497 CA9938898 |
18 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373700307 CA9938899 |
20 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs11544169 CA9938900 |
20 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1568867112 CA409526392 |
22 | Y>N | No |
ClinGen Ensembl |
|
|
rs1306284727 CA409526405 |
23 | L>F | No |
ClinGen gnomAD |
|
|
rs1287233103 CA409526440 |
29 | G>R | No |
ClinGen gnomAD |
|
|
CA409526451 rs1189701918 |
30 | K>R | No |
ClinGen Ensembl |
|
|
CA9938903 rs751228802 |
32 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA317216930 rs754671282 |
33 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA409526480 rs1213835915 |
35 | G>R | No |
ClinGen gnomAD |
|
|
CA409526507 rs1437796350 |
39 | T>I | No |
ClinGen gnomAD |
|
|
CA9938908 rs777917151 |
40 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777917151 CA9938909 |
40 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA317216961 rs1045759176 |
47 | V>L | No |
ClinGen TOPMed |
|
|
rs780084719 CA9938911 |
49 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411180422 CA409526589 |
50 | Q>E | No |
ClinGen TOPMed |
|
|
CA9938913 rs369612978 |
52 | T>M | No |
ClinGen ESP ExAC |
|
|
RCV000896064 CA9938914 rs115562292 |
53 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1632387 CA9938916 rs770269675 |
56 | L>F | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs922386747 CA317217042 |
60 | C>Y | No |
ClinGen Ensembl |
|
|
CA409526743 rs1568867381 |
63 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1446754521 CA409526751 |
63 | D>V | No |
ClinGen gnomAD |
|
|
rs765886959 CA9938919 |
64 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA409526772 rs1475080316 |
65 | T>M | No |
ClinGen TOPMed |
|
|
CA9938921 rs759262763 |
68 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767113789 CA9938922 |
69 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9938960 rs760438229 |
72 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409527659 rs1187308173 |
77 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs998425225 CA317218236 |
84 | R>P | No |
ClinGen TOPMed |
|
|
CA409527810 rs998425225 |
84 | R>Q | No |
ClinGen TOPMed |
|
|
rs1431472743 CA409527802 |
84 | R>W | No |
ClinGen gnomAD |
|
|
CA409527850 rs1396149314 |
86 | P>L | No |
ClinGen gnomAD |
|
|
CA9938962 rs761574396 |
88 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA409527902 rs1360250730 |
89 | P>R | No |
ClinGen gnomAD |
|
|
rs765212539 CA9938963 |
89 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750328793 CA9938964 |
94 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543759050 CA409528043 |
99 | K>E | No |
ClinGen gnomAD |
|
|
rs543759050 CA317218284 |
99 | K>Q | No |
ClinGen gnomAD |
|
|
CA409528120 rs1306870770 |
106 | F>L | No |
ClinGen gnomAD |
|
|
rs750843932 CA9938992 |
112 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9938993 rs758813628 |
113 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780767547 CA9938994 |
114 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs202092326 CA9938995 |
115 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1202099270 CA409529179 |
119 | E>D | No |
ClinGen gnomAD |
|
|
CA409529163 rs1462499483 |
119 | E>Q | No |
ClinGen gnomAD |
|
|
rs539577971 CA9938996 |
120 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9938997 rs780931363 |
122 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA317220525 rs373713350 |
122 | R>W | No |
ClinGen ESP gnomAD |
|
|
rs769591009 CA9938999 |
123 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs201000756 CA317220553 |
124 | V>I | No |
ClinGen 1000Genomes |
|
|
rs1179427338 CA409529307 |
126 | E>D | No |
ClinGen TOPMed |
|
|
rs1216810393 CA409529366 |
130 | N>D | No |
ClinGen gnomAD |
|
|
CA9939003 rs774277993 |
131 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9939004 rs774277993 |
131 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs145275540 CA9939005 |
132 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM478368 rs145275540 CA9939006 |
132 | P>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA317220606 rs1057259916 |
133 | M>I | No |
ClinGen TOPMed |
|
|
rs200439129 CA317220600 |
133 | M>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1483106467 CA409529433 |
134 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1483106467 CA409529435 |
134 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1245018179 CA409529466 |
135 | G>A | No |
ClinGen TOPMed |
|
|
CA409529495 rs1475975195 |
137 | L>P | No |
ClinGen gnomAD |
|
|
rs1311018782 CA409529528 |
139 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 141 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409529570 rs1410512783 |
141 | G>R | No |
ClinGen gnomAD |
|
|
rs1568871313 CA409529586 |
142 | S>N | No |
ClinGen Ensembl |
|
|
CA409529618 rs1413865761 |
144 | G>D | No |
ClinGen gnomAD |
|
|
CA9939012 rs752123074 |
144 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357677542 CA409529646 |
146 | E>G | No |
ClinGen gnomAD |
|
|
CA409529658 rs1269730034 |
147 | L>F | No |
ClinGen gnomAD |
|
|
CA9939016 rs369505590 |
149 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369505590 CA9939017 |
149 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA317220699 rs1018968857 |
150 | L>P | No |
ClinGen Ensembl |
|
|
CA409529969 rs1364854465 |
152 | G>D | No |
ClinGen TOPMed |
|
|
rs1418758071 CA409529756 |
152 | G>S | No |
ClinGen TOPMed |
|
|
rs1568872209 CA409529991 |
153 | E>D | No |
ClinGen Ensembl |
|
|
rs1371372995 CA409530003 |
154 | G>S | No |
ClinGen gnomAD |
|
|
CA409530026 rs1461942314 |
155 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA409530023 rs1461942314 |
155 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1568872257 CA409530087 |
158 | S>G | No |
ClinGen Ensembl |
|
|
rs775820410 CA9939073 |
158 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs887887586 CA317221325 |
158 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9939074 rs140415181 |
163 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA317221339 rs1041429242 |
166 | S>R | No |
ClinGen TOPMed |
|
|
CA409530262 rs1312643241 |
166 | S>T | No |
ClinGen gnomAD |
|
|
rs1414989583 CA409530326 |
169 | M>I | No |
ClinGen gnomAD |
|
|
rs1354505250 CA409530324 |
169 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 169 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9939076 rs753336958 |
172 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA317221372 rs867737023 |
173 | G>E | No |
ClinGen Ensembl |
|
|
rs764807664 CA9939078 |
173 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9939080 rs758075935 |
174 | P>R | No |
ClinGen ExAC |
|
|
CA409530389 rs1208533507 |
174 | P>T | No |
ClinGen gnomAD |
|
|
CA9939082 rs751349690 |
176 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409530416 rs1259782524 |
177 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA409530427 rs1375349899 |
178 | G>E | No |
ClinGen gnomAD |
|
|
rs1194534286 CA409530423 |
178 | G>R | No |
ClinGen gnomAD |
|
|
CA409530548 rs1334583060 |
182 | G>A | No |
ClinGen gnomAD |
|
|
CA409530558 rs1159315719 |
184 | G>E | No |
ClinGen gnomAD |
|
|
rs1459364101 CA409530562 |
185 | A>P | No |
ClinGen gnomAD |
|
|
CA9939117 rs766049673 |
187 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA409530585 rs1395214693 |
189 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs867947871 CA317222364 |
190 | G>D | No |
ClinGen Ensembl |
|
|
CA409530597 rs1296291061 |
191 | L>P | No |
ClinGen gnomAD |
|
|
rs1455121781 CA409530603 |
192 | A>G | No |
ClinGen TOPMed |
|
|
CA409530600 rs1157808760 |
192 | A>S | No |
ClinGen TOPMed |
|
|
rs1240521993 CA409530613 |
194 | L>I | No |
ClinGen gnomAD |
|
|
CA409530625 rs1392217594 |
196 | G>R | No |
ClinGen gnomAD |
|
|
CA409530632 rs1200847177 |
197 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 199 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409530655 rs1232809136 |
200 | P>S | No |
ClinGen gnomAD |
|
|
CA9939121 rs372346185 |
201 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 201 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9939123 rs760667216 |
204 | S>T | No |
ClinGen ExAC |
|
|
CA317222429 rs916016683 |
205 | S>A | No |
ClinGen TOPMed |
|
|
CA409530687 rs764186844 |
205 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939124 rs764186844 |
205 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409530685 rs916016683 |
205 | S>T | No |
ClinGen TOPMed |
|
|
CA409530694 rs1251127224 |
206 | S>F | No |
ClinGen gnomAD |
|
|
CA9939127 rs780267914 |
207 | S>Y | No |
ClinGen ExAC |
|
|
rs757693325 CA9939169 |
209 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA409530723 rs1221693822 |
209 | S>F | No |
ClinGen gnomAD |
|
|
rs1329189722 CA409530728 |
210 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1568874765 CA409530725 |
210 | R>W | No |
ClinGen Ensembl |
|
|
rs1210517407 CA409530732 |
211 | S>N | No |
ClinGen gnomAD |
|
|
rs1467975337 CA409530749 |
213 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1248219132 CA409530761 |
215 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA409530762 rs1248219132 |
215 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 217 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9939174 rs193921052 |
218 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9939173 rs779806679 COSM3405252 |
218 | P>S | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1020715949 CA317222795 |
219 | S>P | No |
ClinGen Ensembl |
|
|
CA9939177 rs748030738 |
221 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1601245516 CA409530843 |
224 | S>Y | No |
ClinGen Ensembl |
|
|
rs773135558 CA9939179 |
225 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA409530849 rs1601245539 |
225 | T>P | No |
ClinGen Ensembl |
|
|
rs759552189 CA9939180 |
226 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939181 rs549209843 |
226 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1350583901 CA409530890 |
228 | T>I | No |
ClinGen gnomAD |
|
|
rs1278521592 CA409530879 |
228 | T>P | No |
ClinGen gnomAD |
|
|
CA9939183 rs760776842 |
229 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939184 rs750525006 |
229 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409530897 rs760776842 |
229 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754150150 CA9939186 |
230 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754150150 CA9939185 |
230 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435798905 CA409530920 |
231 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9939188 rs373938952 |
231 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435798905 CA409530921 |
231 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9939189 rs757944540 |
232 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9939190 rs779683817 |
233 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1417221683 CA409530981 |
235 | A>V | No |
ClinGen gnomAD |
|
|
CA9939192 rs754569348 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1394788418 CA409530992 |
236 | A>V | No |
ClinGen gnomAD |
|
|
CA409531023 rs1329962436 |
239 | A>E | No |
ClinGen gnomAD |
|
|
rs780960999 CA9939193 |
239 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs79836754 CA9939194 |
240 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79836754 CA9939195 |
240 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9939196 rs777637589 |
241 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749253001 CA9939197 |
241 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA317222952 rs768360669 |
242 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs768360669 CA409531056 |
242 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs770895009 CA9939198 |
244 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200789814 CA409531096 |
245 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409531099 rs200789814 |
245 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409531092 rs780652179 |
245 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409531094 rs780652179 |
245 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939202 rs780652179 |
245 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939203 rs200789814 |
245 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409531136 rs1424400920 |
248 | S>C | No |
ClinGen gnomAD |
|
|
CA409531138 rs1424400920 |
248 | S>F | No |
ClinGen gnomAD |
|
|
rs1179998636 CA409531131 |
248 | S>P | No |
ClinGen TOPMed |
|
|
rs1278981993 CA409531148 |
249 | G>E | No |
ClinGen gnomAD |
|
|
rs767047144 CA9939207 |
249 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1267845800 CA409531182 |
252 | A>T | No |
ClinGen TOPMed |
|
|
CA409531214 rs553787199 |
254 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409531207 rs1568875551 |
254 | T>P | No |
ClinGen Ensembl |
|
|
CA9939208 rs553787199 |
254 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409531226 rs1372746753 |
255 | A>G | No |
ClinGen gnomAD |
|
|
rs1487315561 CA409531218 |
255 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA409531236 rs1310629147 |
256 | A>D | No |
ClinGen gnomAD |
|
|
CA409531230 rs1431286902 |
256 | A>T | No |
ClinGen gnomAD |
|
|
COSM1182114 CA409531239 rs1310629147 |
256 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1051852 CA317223011 |
257 | S>R | No |
ClinGen Ensembl |
|
|
rs780649427 CA9939210 |
258 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780649427 CA409531263 |
258 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568875657 CA409531259 |
258 | P>S | No |
ClinGen Ensembl |
|
|
rs1327929989 CA409531286 |
260 | Q>P | No |
ClinGen TOPMed |
|
|
CA409531325 rs1298087737 |
266 | D>H | No |
ClinGen gnomAD |
|
|
rs1298087737 CA409531324 |
266 | D>N | No |
ClinGen gnomAD |
|
|
CA409531359 rs1434986703 |
270 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1202290473 CA409531368 COSM1412913 |
272 | A>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs747004020 CA9939217 |
273 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9939218 rs554858154 |
273 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747004020 CA409531372 |
273 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs770193637 CA9939221 |
275 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939222 rs773702693 COSM1735020 |
276 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs773702693 CA9939223 |
276 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9939227 rs543223102 |
279 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9939226 rs758918944 |
279 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs752190888 CA9939228 |
280 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755742431 CA9939229 |
281 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA409531445 rs1434318551 |
282 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9939230 rs777460073 |
283 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs556646029 CA9939231 |
285 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1464135850 CA409531495 |
286 | V>M | No |
ClinGen TOPMed |
|
|
rs1017305743 CA317223561 |
287 | D>G | No |
ClinGen Ensembl |
|
|
CA409531549 rs1206986513 |
288 | L>P | No |
ClinGen TOPMed |
|
|
CA409531546 rs962389032 |
288 | L>V | No |
ClinGen gnomAD |
|
|
CA317223564 rs867251368 |
289 | A>T | No |
ClinGen gnomAD |
|
|
rs1482537395 CA409531556 |
290 | S>G | No |
ClinGen gnomAD |
|
|
rs775875114 CA9939265 |
291 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs760128444 CA9939266 |
293 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9939268 rs776156417 |
294 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939270 rs764851760 |
295 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409531596 rs1425458203 |
296 | I>M | No |
ClinGen gnomAD |
|
|
CA409531619 rs1601248738 |
300 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 300 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9939273 rs766285528 |
302 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447464785 CA409531640 |
303 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777970682 CA409531645 |
304 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939276 rs777970682 |
304 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939277 rs199629793 |
304 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746185311 CA9939280 |
309 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939281 rs373828612 |
309 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1276408682 CA409531690 |
311 | L>H | No |
ClinGen gnomAD |
|
|
CA409531695 rs1440336672 |
312 | P>S | No |
ClinGen gnomAD |
|
|
rs747481677 CA9939283 |
315 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9939285 rs202035396 |
317 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9939287 rs578081411 |
319 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766122680 CA9939290 |
321 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767621828 CA9939293 |
324 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000973054 CA9939294 rs45576934 |
324 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs77432560 CA9939299 |
327 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1342506230 CA409531854 |
328 | Q>E | No |
ClinGen gnomAD |
|
|
rs747428161 CA9939300 |
329 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA409531873 rs1313369968 |
329 | N>K | No |
ClinGen gnomAD |
|
|
rs769143088 CA9939301 |
329 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA409531876 rs1601249240 |
330 | T>P | No |
ClinGen Ensembl |
|
|
CA9939303 rs747640477 |
333 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409531935 rs1432175744 CA409531934 |
335 | Q>H | No |
ClinGen TOPMed |
|
|
CA317224125 rs887221021 |
339 | A>T | No |
ClinGen Ensembl |
|
|
CA409531979 rs1252628071 |
340 | L>V | No |
ClinGen gnomAD |
|
|
CA9939337 rs764148509 |
341 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA409531992 rs935122651 |
342 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs935122651 CA317224141 |
342 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1229615771 CA409532005 |
344 | S>G | No |
ClinGen TOPMed |
|
|
CA9939339 rs150640020 |
345 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9939340 rs766527585 |
348 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA409532040 rs1388658117 COSM1196110 |
349 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs767840220 CA9939343 |
351 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA409532051 rs1568878268 |
351 | Q>R | No |
ClinGen Ensembl |
|
|
CA409532063 rs1411195284 |
353 | G>A | No |
ClinGen gnomAD |
|
|
rs1331585347 CA409532067 |
354 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1339851200 CA409532073 |
355 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1339851200 CA409532071 |
355 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1339851200 CA409532072 |
355 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753158224 CA9939344 |
357 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765985268 CA9939346 |
360 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs867704098 CA317224196 |
363 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs11544168 CA317224212 |
365 | A>P | No |
ClinGen Ensembl |
|
|
rs1411056631 CA409532143 |
366 | V>M | No |
ClinGen TOPMed |
|
|
CA317224219 rs200235059 |
367 | E>G | No |
ClinGen Ensembl |
|
|
rs1601251463 CA409532160 |
368 | A>G | No |
ClinGen Ensembl |
|
|
CA409532167 rs1568878452 |
369 | A>V | No |
ClinGen Ensembl |
|
|
CA9939348 rs756841363 |
370 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409532172 rs1246580116 |
370 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1131931 CA317224274 |
370 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449303182 CA409532180 |
371 | K>N | No |
ClinGen gnomAD |
|
|
rs764430564 CA317224284 |
373 | D>N | No |
ClinGen TOPMed |
|
|
rs754055148 CA317224731 |
376 | A>V | No |
ClinGen Ensembl |
|
|
CA9939384 rs775795054 |
379 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 379 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391787046 CA409532250 |
380 | A>V | No |
ClinGen gnomAD |
|
|
CA9939385 rs200530119 |
382 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409532266 rs1306290701 |
382 | Q>H | No |
ClinGen gnomAD |
|
|
rs1201045538 CA409532269 |
383 | N>D | No |
ClinGen gnomAD |
|
|
CA317224738 rs1009512987 |
383 | N>K | No |
ClinGen Ensembl |
|
|
CA409532272 rs1349872922 |
383 | N>S | No |
ClinGen gnomAD |
|
|
rs764487645 CA9939386 |
384 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs762394622 CA9939388 |
385 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9939391 rs749882447 |
387 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs749882447 CA9939390 |
387 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs373954705 CA9939393 |
388 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9939394 rs373954705 |
388 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73916515 CA9939395 |
390 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769721912 CA9939397 |
391 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA9939396 rs747996969 |
391 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA317224867 rs561922905 |
392 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9939399 rs370417009 |
392 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9939404 rs775536014 |
393 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760928923 CA9939405 |
394 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409532359 rs1489453382 |
397 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs36107815 CA9939408 |
397 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs36107815 CA317224954 |
397 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1395910503 CA409532371 |
398 | K>N | No |
ClinGen gnomAD |
|
|
CA409532372 rs1271348918 |
399 | D>N | No |
ClinGen TOPMed |
|
|
CA409532383 rs1247738362 |
400 | E>G | No |
ClinGen gnomAD |
|
|
CA9939411 rs140787599 |
400 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9939413 rs368420066 |
401 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA409532390 rs368420066 |
401 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9939415 rs754647959 |
402 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9939416 rs199937384 |
404 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752423235 CA9939417 |
405 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA317225010 rs548214631 |
406 | L>V | No |
ClinGen 1000Genomes |
No associated diseases with Q16186
No regional properties for Q16186
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q16186 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| proteasome complex | A large multisubunit complex which catalyzes protein degradation, found in eukaryotes, archaea and some bacteria. In eukaryotes, this complex consists of the barrel shaped proteasome core complex and one or two associated proteins or complexes that act in regulating entry into or exit from the core. |
| proteasome regulatory particle, lid subcomplex | The subcomplex of the proteasome regulatory particle that forms the peripheral lid, which is added on top of the base subcomplex. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| endopeptidase activator activity | Binds to and increases the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. |
| molecular function inhibitor activity | A molecular function regulator that inhibits or decreases the activity of its target via non-covalent binding that does not result in covalent modification to the target. |
| protease binding | Binding to a protease or a peptidase. |
| proteasome binding | Binding to a proteasome, a large multisubunit protein complex that catalyzes protein degradation. |
| ubiquitin binding | Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| proteasome assembly | The aggregation, arrangement and bonding together of a mature, active proteasome complex. |
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| transcription elongation by RNA polymerase II promoter | The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II. |
| ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of a ubiquitin group, or multiple ubiquitin groups, to the protein. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTTSGALFPS | LVPGSRGASN | KYLVEFRAGK | MSLKGTTVTP | DKRKGLVYIQ | QTDDSLIHFC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WKDRTSGNVE | DDLIIFPDDC | EFKRVPQCPS | GRVYVLKFKA | GSKRLFFWMQ | EPKTDQDEEH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CRKVNEYLNN | PPMPGALGAS | GSSGHELSAL | GGEGGLQSLL | GNMSHSQLMQ | LIGPAGLGGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GGLGALTGPG | LASLLGSSGP | PGSSSSSSSR | SQSAAVTPSS | TTSSTRATPA | PSAPAAASAT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPSPAPSSGN | GASTAASPTQ | PIQLSDLQSI | LATMNVPAGP | AGGQQVDLAS | VLTPEIMAPI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LANADVQERL | LPYLPSGESL | PQTADEIQNT | LTSPQFQQAL | GMFSAALASG | QLGPLMCQFG |
| 370 | 380 | 390 | 400 | ||
| LPAEAVEAAN | KGDVEAFAKA | MQNNAKPEQK | EGDTKDKKDE | EEDMSLD |