O60884
Gene name |
DNAJA2 (CPR3, HIRIP4) |
Protein name |
DnaJ homolog subfamily A member 2 |
Names |
Cell cycle progression restoration gene 3 protein, Dnj3, Dj3, HIRA-interacting protein 4, Renal carcinoma antigen NY-REN-14 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10294 |
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
2 structures for O60884
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7ZHS | EM | 690 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X/Y/Z/a/b/c/d | 1-412 | PDB |
| AF-O60884-F1 | Predicted | AlphaFoldDB |
227 variants for O60884
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395801632 rs1172131747 |
3 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1012402589 CA280205503 |
4 | V>M | No |
ClinGen TOPMed |
|
|
CA395801614 rs1308939111 |
5 | A>T | No |
ClinGen TOPMed |
|
|
CA8039310 rs759599179 |
7 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457625363 CA395801478 |
14 | G>S | No |
ClinGen gnomAD |
|
|
CA8039309 rs776717376 |
16 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395801444 rs1460405490 |
17 | P>T | No |
ClinGen gnomAD |
|
|
CA395801424 rs1219368770 |
18 | G>S | No |
ClinGen gnomAD |
|
|
rs746914835 CA8039307 |
23 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1219927557 CA395800957 |
33 | K>R | No |
ClinGen gnomAD |
|
|
rs1257939668 CA395800927 |
37 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 38 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198196112 CA395800918 |
38 | D>V | No |
ClinGen gnomAD |
|
|
rs1276373730 CA395800904 |
40 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202243022 CA8039280 |
42 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1233470053 CA395800877 |
44 | G>E | No |
ClinGen TOPMed |
|
|
CA395800862 rs1456624777 |
46 | K>R | No |
ClinGen gnomAD |
|
|
rs1238328042 CA395800796 |
50 | I>K | No |
ClinGen gnomAD |
|
|
rs1238328042 CA395800794 |
50 | I>T | No |
ClinGen gnomAD |
|
|
rs1274515946 CA395800801 |
50 | I>V | No |
ClinGen TOPMed |
|
|
rs1403160739 CA395800785 |
51 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 52 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8039233 rs762799663 |
54 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775094018 CA8039232 |
56 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 59 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 60 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317285538 CA395800638 |
60 | P>R | No |
ClinGen TOPMed |
|
|
rs1002952512 CA280203801 |
60 | P>T | No |
ClinGen TOPMed |
|
|
rs759070854 CA8039230 |
61 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA395800582 rs1251966743 COSM1250434 |
63 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs776142209 CA395800547 |
65 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1379445095 CA395800503 |
68 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA395800495 rs1197667183 |
68 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA395800444 rs1479645246 |
72 | Q>R | No |
ClinGen TOPMed |
|
|
rs997644710 CA280203777 |
74 | L>V | No |
ClinGen gnomAD |
|
|
rs559641513 CA8039226 |
75 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8039227 rs748720169 |
75 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA622644142 rs1482979639 |
76 | E>K | No |
ClinGen gnomAD |
|
|
rs1347328345 CA395800389 |
78 | S>G | No |
ClinGen gnomAD |
|
|
CA8039225 COSM122648 rs768986577 |
79 | G>S | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395800376 rs1308973501 |
80 | G>R | No |
ClinGen gnomAD |
|
|
rs1398677162 CA395800348 |
84 | M>R | No |
ClinGen TOPMed |
|
|
CA395800352 rs1241347835 |
84 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780236961 CA8039223 |
85 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA395800328 rs1259175873 |
87 | I>V | No |
ClinGen gnomAD |
|
|
CA8039222 rs756377849 |
88 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8039221 rs750648975 |
89 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs781464689 CA8039220 |
90 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA395800302 rs1302433690 |
91 | I>V | No |
ClinGen gnomAD |
|
|
CA280203716 rs1065332 |
93 | G>C | No |
ClinGen Ensembl |
|
|
rs1359505968 CA395800286 |
93 | G>D | No |
ClinGen gnomAD |
|
|
CA395800260 rs1410625322 |
97 | F>S | No |
ClinGen TOPMed |
|
|
CA8039219 rs757412266 |
98 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA395800237 rs764110614 CA8039217 |
100 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395800215 TCGA novel rs1596659397 |
103 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
| TCGA novel | 105 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280203699 rs143994918 |
107 | R>Q | No |
ClinGen ESP TOPMed |
|
|
rs752569660 CA8039215 |
111 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA395800120 rs1567355353 |
113 | G>R | No |
ClinGen Ensembl |
|
|
CA8039212 rs776259550 |
117 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1596659377 CA395800018 |
119 | P>L | No |
ClinGen Ensembl |
|
|
CA8039193 rs754752738 |
127 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs370257555 CA8039192 |
129 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766023911 CA8039191 |
132 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8039190 rs760275799 |
133 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8039189 rs772796824 |
134 | K>E | No |
ClinGen ExAC |
|
| TCGA novel | 134 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395798349 rs1380326014 |
137 | L>R | No |
ClinGen gnomAD |
|
|
rs1045650 CA280200980 |
138 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1045650 CA8039186 |
138 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA395798194 COSM1377958 rs1370357490 |
144 | S>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs770342885 CA8039185 |
144 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395798100 rs1300460916 |
147 | S>G | No |
ClinGen TOPMed |
|
|
rs1329061310 CA395798088 |
147 | S>I | No |
ClinGen gnomAD |
|
| rs1329562193 | 148 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400288716 CA395797840 |
151 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1172183733 CA395797826 |
152 | K>E | No |
ClinGen gnomAD |
|
|
CA8039167 rs751026855 CA395797808 |
152 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1177232448 CA395797752 |
155 | A>V | No |
ClinGen gnomAD |
|
|
rs765847997 CA8039165 |
156 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs563442946 CA8039162 |
161 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA280200252 rs975623207 |
161 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8039159 rs772277874 |
164 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1377492187 CA395797534 |
165 | R>G | No |
ClinGen gnomAD |
|
|
CA395797526 rs1195784639 |
165 | R>Q | No |
ClinGen TOPMed |
|
|
rs745927844 CA280200162 |
167 | V>G | No |
ClinGen Ensembl |
|
|
CA280200150 rs140371161 |
168 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8039158 rs534125595 |
168 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8039157 rs779007173 |
169 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8039156 rs768603261 |
170 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1419501601 CA395797444 |
171 | I>V | No |
ClinGen gnomAD |
|
|
CA395797384 rs1472121887 |
175 | A>S | No |
ClinGen gnomAD |
|
|
rs1236367617 CA395797371 |
176 | P>A | No |
ClinGen gnomAD |
|
|
rs750150488 CA8039152 |
183 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA395797118 rs1354113089 |
187 | S>C | No |
ClinGen gnomAD |
|
|
rs1226522815 CA395797042 |
190 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8039150 rs756868978 |
193 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA395795680 rs1428676109 |
195 | V>G | No |
ClinGen gnomAD |
|
|
rs866713385 CA280197566 |
196 | I>V | No |
ClinGen Ensembl |
|
|
rs754457151 CA8039127 |
197 | N>D | No |
ClinGen ExAC |
|
|
rs200039226 CA280197548 |
199 | K>N | No |
ClinGen Ensembl |
|
|
CA8039126 rs372223991 |
201 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1189193637 CA395795625 |
201 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1253435557 CA395795607 |
204 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756600565 CA8039125 |
204 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA395795581 rs1456431922 |
205 | C>W | No |
ClinGen gnomAD |
|
|
rs1256226961 CA395795555 |
207 | G>E | No |
ClinGen gnomAD |
|
|
CA395795526 rs1198090542 |
209 | K>R | No |
ClinGen gnomAD |
|
|
rs750771069 CA8039124 |
212 | K>E | No |
ClinGen ExAC |
|
|
CA280197491 rs766635225 |
213 | E>D | No |
ClinGen Ensembl |
|
|
CA280197489 rs1017561265 |
217 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA395795316 rs1567353667 |
218 | E>K | No |
ClinGen Ensembl |
|
|
CA8039121 rs373625818 |
221 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395795228 rs1217734396 |
222 | D>H | No |
ClinGen gnomAD |
|
|
rs764214828 CA8039120 |
225 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA395795053 rs1304702821 |
228 | G>E | No |
ClinGen gnomAD |
|
|
CA395795038 rs1198303547 |
229 | Q>R | No |
ClinGen TOPMed |
|
|
CA395795011 rs1412531961 |
230 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 236 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8039118 rs775483729 |
237 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1596656356 CA395794884 |
237 | A>T | No |
ClinGen Ensembl |
|
|
CA280197445 rs952164476 |
239 | Q>E | No |
ClinGen Ensembl |
|
|
rs551335479 CA8039116 |
240 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA280197423 rs1027691927 |
243 | V>M | No |
ClinGen gnomAD |
|
|
rs746728501 CA395794726 |
245 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746728501 CA8039113 |
245 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746728501 CA280197381 |
245 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs758054922 CA8039111 |
247 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA280197368 rs770291135 |
248 | I>V | No |
ClinGen TOPMed |
|
|
rs1567353633 CA395794599 |
253 | Q>R | No |
ClinGen Ensembl |
|
|
CA395794522 rs1429439687 |
257 | H>D | No |
ClinGen TOPMed |
|
|
rs1477284730 CA395794516 |
257 | H>R | No |
ClinGen TOPMed |
|
|
CA395793783 rs1258516207 |
259 | V>A | No |
ClinGen gnomAD |
|
|
CA8039095 rs759436802 |
259 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA280193426 rs1043138703 |
261 | Q>K | No |
ClinGen Ensembl |
|
|
rs746816378 CA8039092 |
269 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA395793705 rs1567352595 |
270 | T>A | No |
ClinGen Ensembl |
|
|
rs773099184 CA8039091 |
270 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8039089 rs747776623 |
271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs771871433 CA8039090 |
271 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1355657311 CA395793676 |
274 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs754505395 CA8039087 |
276 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8039088 rs199942539 |
276 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8039086 rs746419116 |
278 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1342837196 CA395793648 |
279 | L>P | No |
ClinGen gnomAD |
|
|
CA280193379 rs750109124 |
284 | F>L | No |
ClinGen Ensembl |
|
|
rs1366661580 CA395793585 |
286 | F>L | No |
ClinGen gnomAD |
|
|
CA395793562 rs1468476162 |
288 | H>Y | No |
ClinGen TOPMed |
|
|
rs1258365140 CA395793529 |
290 | D>G | No |
ClinGen gnomAD |
|
|
rs758668893 CA280193362 |
291 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8039081 rs758668893 |
291 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8039079 rs765303923 |
292 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8039078 rs759651150 |
294 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA280193331 rs776422953 |
295 | V>L | No |
ClinGen Ensembl |
|
|
CA8039075 rs760638193 COSM1686234 |
300 | P>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766369059 CA8039076 |
300 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA395793391 rs1406981810 |
301 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773186891 CA8039074 |
302 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1394258106 CA395793385 |
302 | K>Q | No |
ClinGen gnomAD |
|
|
rs1034831455 CA280193324 |
302 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8039073 rs771957552 |
306 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 307 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767478496 CA8039049 |
308 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1257117890 CA395793250 |
311 | V>I | No |
ClinGen TOPMed |
|
|
CA395793233 rs1436518027 |
312 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA395793216 rs1257961632 |
313 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1257961632 CA395793221 |
313 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8039048 rs377422570 |
317 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8039047 rs773950249 COSM3771949 |
318 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1320409451 CA395793137 |
318 | P>S | No |
ClinGen gnomAD |
|
|
rs1320409451 CA395793142 |
318 | P>T | No |
ClinGen gnomAD |
|
|
rs768387409 CA395793119 |
319 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768387409 CA8039046 |
319 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395793078 rs1455043292 |
321 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1366511695 CA622580805 |
322 | N>* | No |
ClinGen gnomAD |
|
|
rs1433229914 CA395793054 |
323 | P>T | No |
ClinGen TOPMed |
|
|
CA280193102 rs1049292742 |
326 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA280193097 rs369080423 |
330 | Y>H | No |
ClinGen ESP TOPMed |
|
|
CA8039045 rs762465852 |
331 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA395792836 rs1274857452 |
334 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA280193096 rs891852246 CA395792807 |
336 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8039042 rs200198931 |
340 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395792742 rs200198931 |
340 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780937485 CA280193085 |
342 | W>G | No |
ClinGen Ensembl |
|
|
rs1330588674 CA395792674 |
343 | I>T | No |
ClinGen gnomAD |
|
|
rs772512918 CA8039040 |
344 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1234760927 CA395792647 |
345 | P>T | No |
ClinGen gnomAD |
|
|
CA8039039 rs748554053 |
347 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA395792592 rs1307028879 |
348 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 349 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8039021 rs772601096 |
350 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs774815723 CA8039019 |
358 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8039018 rs768894461 |
359 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8039017 rs749578018 |
359 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395791515 rs749578018 |
359 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409372001 CA395791433 |
363 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs745975632 CA8039014 |
364 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA8039015 rs756336225 |
364 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1416574572 CA395791362 |
366 | G>R | No |
ClinGen gnomAD |
|
|
CA8039012 rs757270298 |
368 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214828452 CA395791224 |
371 | V>L | No |
ClinGen gnomAD |
|
|
CA395791170 rs908391216 |
372 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286297259 CA395791051 |
376 | F>L | No |
ClinGen gnomAD |
|
|
CA395790942 rs1179785284 |
380 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8039011 rs751421502 |
380 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 381 | G>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8039009 rs758118666 |
382 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs200288545 CA8039007 |
388 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287426031 CA395790782 |
389 | E>K | No |
ClinGen gnomAD |
|
|
CA8039005 rs376667429 |
390 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8039004 rs765773216 |
394 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA8039003 rs762444482 |
395 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA395790599 rs1293016816 |
400 | S>G | No |
ClinGen TOPMed |
|
|
rs769147675 CA8039001 |
400 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1488148044 CA395790581 |
402 | H>R | No |
ClinGen TOPMed |
|
|
rs1416979922 CA395790583 |
402 | H>Y | No |
ClinGen gnomAD |
|
|
rs991599545 CA280191775 |
403 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA280191776 rs915829591 |
403 | H>R | No |
ClinGen TOPMed |
|
|
rs1475601525 CA395790560 |
405 | P>R | No |
ClinGen gnomAD |
No associated diseases with O60884
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATPase activator activity | Binds to and increases the activity of an ATP hydrolysis activity. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| Hsp70 protein binding | Binding to a Hsp70 protein, heat shock proteins around 70kDa in size. |
| metal ion binding | Binding to a metal ion. |
| unfolded protein binding | Binding to an unfolded protein. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| protein refolding | The process carried out by a cell that restores the biological activity of an unfolded or misfolded protein, using helper proteins such as chaperones. |
| response to heat | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heat stimulus, a temperature stimulus above the optimal temperature for that organism. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANVADTKLY | DILGVPPGAS | ENELKKAYRK | LAKEYHPDKN | PNAGDKFKEI | SFAYEVLSNP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EKRELYDRYG | EQGLREGSGG | GGGMDDIFSH | IFGGGLFGFM | GNQSRSRNGR | RRGEDMMHPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KVSLEDLYNG | KTTKLQLSKN | VLCSACSGQG | GKSGAVQKCS | ACRGRGVRIM | IRQLAPGMVQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QMQSVCSDCN | GEGEVINEKD | RCKKCEGKKV | IKEVKILEVH | VDKGMKHGQR | ITFTGEADQA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGVEPGDIVL | LLQEKEHEVF | QRDGNDLHMT | YKIGLVEALC | GFQFTFKHLD | GRQIVVKYPP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GKVIEPGCVR | VVRGEGMPQY | RNPFEKGDLY | IKFDVQFPEN | NWINPDKLSE | LEDLLPSRPE |
| 370 | 380 | 390 | 400 | 410 | |
| VPNIIGETEE | VELQEFDSTR | GSGGGQRREA | YNDSSDEESS | SHHGPGVQCA | HQ |