O75530
Gene name |
EED |
Protein name |
Polycomb protein EED |
Names |
hEED, Embryonic ectoderm development protein, WD protein associating with integrin cytoplasmic tails 1, WAIT-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8726 |
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
69 structures for O75530
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3IIW | X-ray | 180 A | A | 77-441 | PDB |
| 3IIY | X-ray | 265 A | A | 77-441 | PDB |
| 3IJ0 | X-ray | 245 A | A | 77-441 | PDB |
| 3IJ1 | X-ray | 210 A | A | 77-441 | PDB |
| 3IJC | X-ray | 195 A | A | 77-441 | PDB |
| 3JPX | X-ray | 205 A | A | 40-441 | PDB |
| 3JZG | X-ray | 210 A | A | 40-441 | PDB |
| 3JZH | X-ray | 205 A | A | 40-441 | PDB |
| 3JZN | X-ray | 260 A | A | 76-441 | PDB |
| 3K26 | X-ray | 158 A | A | 76-441 | PDB |
| 3K27 | X-ray | 176 A | A | 76-441 | PDB |
| 4W2R | X-ray | 281 A | E/F | 81-441 | PDB |
| 4X3E | X-ray | 230 A | A | 77-441 | PDB |
| 5GSA | X-ray | 249 A | A/B | 76-441 | PDB |
| 5H13 | X-ray | 190 A | A | 76-441 | PDB |
| 5H14 | X-ray | 190 A | A/B | 76-441 | PDB |
| 5H15 | X-ray | 227 A | A/B | 76-441 | PDB |
| 5H17 | X-ray | 230 A | A | 76-441 | PDB |
| 5H19 | X-ray | 190 A | A | 76-441 | PDB |
| 5H24 | X-ray | 250 A | A/B | 76-441 | PDB |
| 5H25 | X-ray | 288 A | A/B | 76-441 | PDB |
| 5HYN | X-ray | 295 A | B/G/L/R | 77-441 | PDB |
| 5IJ7 | X-ray | 262 A | E/F | 81-441 | PDB |
| 5IJ8 | X-ray | 299 A | E/F | 81-441 | PDB |
| 5K0M | X-ray | 183 A | A | 77-441 | PDB |
| 5LS6 | X-ray | 347 A | B/E/H/K | 77-441 | PDB |
| 5TTW | X-ray | 174 A | A/C | 76-441 | PDB |
| 5U5H | X-ray | 180 A | A | 76-441 | PDB |
| 5U5K | X-ray | 233 A | A | 76-441 | PDB |
| 5U5T | X-ray | 160 A | A/B | 76-441 | PDB |
| 5U62 | X-ray | 190 A | A/B | 76-441 | PDB |
| 5U69 | X-ray | 128 A | A | 77-441 | PDB |
| 5U6D | X-ray | 164 A | A | 77-441 | PDB |
| 5U8A | X-ray | 145 A | A | 77-441 | PDB |
| 5U8F | X-ray | 134 A | A | 77-441 | PDB |
| 5WG6 | X-ray | 390 A | B/D | 2-441 | PDB |
| 5WP3 | X-ray | 255 A | A | 75-441 | PDB |
| 5WUK | X-ray | 203 A | A | 76-441 | PDB |
| 6B3W | X-ray | 305 A | E/F | 81-441 | PDB |
| 6C23 | EM | 390 A | L | 1-441 | PDB |
| 6C24 | EM | 350 A | L | 1-441 | PDB |
| 6LO2 | X-ray | 221 A | A/B | 76-441 | PDB |
| 6SFB | X-ray | 152 A | A/B | 76-441 | PDB |
| 6SFC | X-ray | 200 A | A/B | 76-441 | PDB |
| 6U4Y | X-ray | 291 A | D/E/F | 78-441 | PDB |
| 6V3X | X-ray | 170 A | A | 75-441 | PDB |
| 6V3Y | X-ray | 163 A | A | 81-439 | PDB |
| 6W7F | X-ray | 220 A | A | 77-441 | PDB |
| 6W7G | X-ray | 185 A | A | 77-441 | PDB |
| 6WKR | EM | 350 A | L | 1-441 | PDB |
| 6YVI | X-ray | 226 A | A/B | 76-441 | PDB |
| 6YVJ | X-ray | 184 A | A/B | 76-441 | PDB |
| 7KSO | EM | 390 A | B | 1-441 | PDB |
| 7KSR | EM | 410 A | B | 1-441 | PDB |
| 7KTP | EM | 480 A | B | 1-441 | PDB |
| 7KXT | X-ray | 215 A | A/B | 40-441 | PDB |
| 7MSB | X-ray | 190 A | A | 77-441 | PDB |
| 7MSD | X-ray | 220 A | A | 77-441 | PDB |
| 7P3C | X-ray | 161 A | A/B | 76-441 | PDB |
| 7P3G | X-ray | 239 A | A/B | 76-441 | PDB |
| 7P3J | X-ray | 193 A | A/B | 76-441 | PDB |
| 7QJG | X-ray | 180 A | A/B | 77-441 | PDB |
| 7QJU | X-ray | 180 A | A/B | 77-441 | PDB |
| 7QK4 | X-ray | 160 A | A | 77-441 | PDB |
| 7SI4 | X-ray | 190 A | A | 40-441 | PDB |
| 7SI5 | X-ray | 175 A | A | 40-441 | PDB |
| 7TD5 | X-ray | 299 A | B/G | 77-441 | PDB |
| 8FYH | EM | 340 A | C/I | 1-441 | PDB |
| AF-O75530-F1 | Predicted | AlphaFoldDB |
168 variants for O75530
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001049094 rs773510026 |
3 | E>D | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001309293 rs766472086 |
4 | R>K | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001258333 rs1945363239 |
17 | A>V | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1459981515 RCV001197531 |
25 | S>G | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000981790 rs149126431 CA6216345 |
50 | T>P | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1565692818 RCV000699978 CA382003896 |
146 | N>K | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs147440081 RCV001247531 CA6216434 |
178 | I>V | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_079255 | 194 | N>S | COGIS [UniProt] | Yes | UniProt |
| VAR_079256 | 236 | R>G | COGIS [UniProt] | Yes | UniProt |
|
rs1131692176 VAR_078316 RCV000495685 CA382004532 |
236 | R>T | Cohen-Gibson syndrome COGIS; decreased trimethylation of 'Lys-27' of histone H3; no effect on interaction with EZH2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_079257 CA382004703 RCV000494950 rs1131692174 |
258 | H>Y | Cohen-Gibson syndrome COGIS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000983832 rs367891435 CA6216508 |
274 | I>V | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000816549 CA6216520 rs781731485 |
294 | I>V | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000495365 rs1131692175 CA382005025 VAR_079258 COSM3720451 |
302 | R>G | Variant assessed as Somatic; impact. Cohen-Gibson syndrome haematopoietic_and_lymphoid_tissue COGIS [NCI-TCGA, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000495739 VAR_078317 rs1131692173 CA382005030 |
302 | R>S | Cohen-Gibson syndrome COGIS; decreased trimethylation of 'Lys-27' of histone H3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1565706229 CA382007711 RCV000708568 |
366 | M>T | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000988621 CA382007922 rs1593776227 |
378 | A>V | Cohen-Gibson syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| rs780894846 | 10 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1186239339 | 21 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 34 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6216340 COSM932707 rs138343311 |
41 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780620361 CA6216341 |
41 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158957036 CA382061303 |
44 | I>M | No |
ClinGen gnomAD |
|
|
CA382061301 rs1420554958 |
44 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749513327 CA6216342 |
44 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382061313 rs1325758414 |
46 | S>G | No |
ClinGen TOPMed |
|
|
rs769007751 CA6216343 |
47 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382061327 rs1593721068 |
48 | T>S | No |
ClinGen Ensembl |
|
|
rs772008343 CA6216346 |
50 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772993565 CA6216347 |
52 | R>C | Variant assessed as Somatic; 4.666e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1306469162 CA382061353 |
52 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 54 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240504562 CA382061373 |
55 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 55 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382061374 rs1240504562 |
55 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA225537281 rs890695718 |
58 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 58 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382061400 rs1343373792 |
59 | T>M | No |
ClinGen gnomAD |
|
|
rs753700468 CA6216350 |
60 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 61 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759130955 CA6216351 |
62 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6216353 rs752209808 |
64 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 66 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353115591 CA382061498 |
73 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | W>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464396199 CA382061491 |
73 | W>R | No |
ClinGen gnomAD |
|
|
CA6216357 rs756747245 |
75 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA382061539 rs1467825675 |
79 | K>T | No |
ClinGen gnomAD |
|
|
rs1402767573 CA382061577 |
84 | C>Y | No |
ClinGen gnomAD |
|
|
CA382061613 rs1401637097 |
89 | K>T | No |
ClinGen gnomAD |
|
|
rs1197226177 CA382061638 |
91 | D>N | No |
ClinGen TOPMed |
|
|
rs751115357 CA6216375 |
93 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 99 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263775594 CA382061720 |
102 | N>D | No |
ClinGen gnomAD |
|
|
rs1266388674 CA382061746 |
105 | S>G | No |
ClinGen TOPMed |
|
|
CA6216378 rs754218053 |
109 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1565689787 CA382061825 |
116 | V>A | No |
ClinGen Ensembl |
|
|
rs1221175263 CA382061842 |
119 | N>D | No |
ClinGen TOPMed |
|
|
rs1482435543 CA382003738 |
125 | E>V | No |
ClinGen TOPMed |
|
|
CA382003751 rs1417875292 |
127 | H>Y | No |
ClinGen gnomAD |
|
|
rs1225330920 CA382003769 |
129 | Q>H | No |
ClinGen TOPMed |
|
|
CA6216406 rs183646722 |
133 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745786094 COSM467511 CA6216405 |
133 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA225323962 rs367879986 |
136 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1042646641 CA225323986 |
137 | S>F | No |
ClinGen TOPMed |
|
|
rs776117763 CA6216410 |
139 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776117763 CA225324001 |
139 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382003906 rs1200013330 |
148 | Y>H | No |
ClinGen gnomAD |
|
|
CA6216423 rs757539279 |
149 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6216425 rs750525883 |
151 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434243467 CA382003950 |
154 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141323002 CA6216428 |
158 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA225324663 rs141323002 |
158 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382003990 rs1565692901 |
160 | H>Y | No |
ClinGen Ensembl |
|
|
CA382003999 rs1377492603 |
161 | P>A | No |
ClinGen TOPMed |
|
|
CA382004020 rs1434590457 |
165 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346705627 CA382004065 |
172 | I>V | No |
ClinGen gnomAD |
|
|
rs771855344 CA6216432 |
174 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1369539791 CA382004082 |
174 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382004079 rs1451703523 |
174 | I>V | No |
ClinGen TOPMed |
|
|
CA382004090 rs1277436586 |
175 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6216457 rs374964622 |
193 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 201 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 201 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767913799 CA6216458 |
204 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA225325343 rs767913799 |
204 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382004305 rs1339838230 |
204 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6216460 rs974144 |
207 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 212 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324041105 CA382004436 |
221 | Q>R | No |
ClinGen gnomAD |
|
|
rs919112787 CA225328966 |
222 | T>M | No |
ClinGen Ensembl |
|
|
CA382004440 rs1196865201 |
222 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759722952 CA6216482 |
232 | V>I | No |
ClinGen ExAC |
|
|
rs1407096240 CA382004625 |
247 | L>F | No |
ClinGen gnomAD |
|
|
rs1388170340 CA382004622 |
247 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 251 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340382867 CA382004715 |
260 | L>V | No |
ClinGen gnomAD |
|
|
rs775716311 CA6216505 |
264 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6216506 rs374311051 |
266 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA225330029 rs905981541 |
270 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM932713 CA6216507 rs763956385 |
271 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 272 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs938759887 CA225330040 |
272 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382004808 rs1358750337 |
273 | A>T | No |
ClinGen gnomAD |
|
|
rs1292309172 CA382004826 |
275 | K>N | No |
ClinGen gnomAD |
|
|
rs1487912547 CA382004850 |
279 | D>N | No |
ClinGen gnomAD |
|
|
rs1199068566 CA382004866 |
281 | N>H | No |
ClinGen TOPMed |
|
|
rs1593754647 CA382004884 |
283 | N>S | No |
ClinGen Ensembl |
|
|
rs771185794 CA6216519 |
290 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA225331212 rs977513717 |
292 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 294 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6216521 rs746020326 |
295 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6216522 rs770152825 |
296 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1301151502 CA382005107 |
313 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1408450238 COSM87721 CA382005133 |
317 | D>N | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1343385276 CA382006907 |
326 | N>T | No |
ClinGen gnomAD |
|
|
rs970497140 CA225336766 |
327 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA225336772 rs947096920 |
328 | I>V | No |
ClinGen TOPMed |
|
|
rs1432214115 CA382006942 |
329 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382007051 rs1480171332 |
335 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 338 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1593774854 CA382007126 |
339 | D>Y | No |
ClinGen Ensembl |
|
|
CA382007150 rs747972868 |
340 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747972868 CA6216555 |
340 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6216554 rs774560012 |
340 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779621699 CA225336817 |
343 | I>M | No |
ClinGen Ensembl |
|
|
CA382007237 rs1216386093 |
345 | P>A | No |
ClinGen gnomAD |
|
|
CA382007244 rs1207890235 |
345 | P>R | No |
ClinGen TOPMed |
|
|
rs772015033 CA6216556 |
346 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA382007339 rs1165886207 |
350 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760494356 CA6216558 |
352 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1460129527 CA382007404 |
353 | L>V | No |
ClinGen gnomAD |
|
|
CA382007576 rs1444960146 |
360 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 364 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311812688 CA382007769 |
370 | M>T | No |
ClinGen gnomAD |
|
|
rs759299377 CA6216561 |
370 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382007825 rs1405614156 |
373 | W>C | No |
ClinGen gnomAD |
|
|
CA382007989 rs1593776239 |
383 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 388 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762517406 CA6216581 |
392 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6216582 rs763742808 |
395 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1263896263 CA382008191 |
397 | H>R | No |
ClinGen gnomAD |
|
|
CA6216583 rs750950743 |
399 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382008260 rs1289428544 |
405 | T>S | No |
ClinGen TOPMed |
|
|
rs760021454 CA6216625 |
405 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs199562674 CA6216628 |
410 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382008294 rs1485511920 |
410 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 413 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6216629 rs764331181 |
413 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA382008340 rs1447185281 |
417 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA225337745 rs951387529 |
426 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA382008407 rs1565707121 |
426 | I>V | No |
ClinGen Ensembl |
|
|
rs1326013174 CA382008450 |
432 | A>D | No |
ClinGen gnomAD |
|
|
CA225337750 rs1005649993 |
440 | L>R | No |
ClinGen Ensembl |
|
|
CA6216632 rs767548896 COSM932716 |
441 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA382008528 COSM932717 rs1363668348 |
441 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
No associated diseases with O75530
5 regional properties for O75530
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 27 - 249 | IPR003439 |
| domain | AAA+ ATPase domain | 55 - 226 | IPR003593 |
| domain | ABC transporter, teichoic acids export TagH-like | 8 - 231 | IPR015860 |
| conserved_site | ABC transporter-like, conserved site | 150 - 164 | IPR017871 |
| domain | LysM domain | 403 - 448 | IPR018392 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| ESC/E(Z) complex | A multimeric protein complex that can methylate lysine-27 and lysine-9 residues of histone H3. In Drosophila the core subunits of the complex include ESC, E(Z), CAF1 (NURF-55) and SU(Z)12. In mammals the core subunits of the complex include EED, EZH2, SUZ12 and RBBP4. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| enzyme activator activity | Binds to and increases the activity of an enzyme. |
| histone methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + histone = S-adenosyl-L-homocysteine + methyl-histone. Histone methylation generally occurs on either an arginine or lysine residue. |
| identical protein binding | Binding to an identical protein or proteins. |
| transcription corepressor binding | Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| spinal cord development | The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZ25 | EED | Polycomb protein EED | Bos taurus (Bovine) | PR |
| Q5ZKH3 | EED | Polycomb protein EED | Gallus gallus (Chicken) | PR |
| Q921E6 | Eed | Polycomb protein EED | Mus musculus (Mouse) | PR |
| Q28DT7 | eed | Polycomb protein eed | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q566T0 | eed | Polycomb protein eed | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSEREVSTAP | AGTDMPAAKK | QKLSSDENSN | PDLSGDENDD | AVSIESGTNT | ERPDTPTNTP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NAPGRKSWGK | GKWKSKKCKY | SFKCVNSLKE | DHNQPLFGVQ | FNWHSKEGDP | LVFATVGSNR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTLYECHSQG | EIRLLQSYVD | ADADENFYTC | AWTYDSNTSH | PLLAVAGSRG | IIRIINPITM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QCIKHYVGHG | NAINELKFHP | RDPNLLLSVS | KDHALRLWNI | QTDTLVAIFG | GVEGHRDEVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SADYDLLGEK | IMSCGMDHSL | KLWRINSKRM | MNAIKESYDY | NPNKTNRPFI | SQKIHFPDFS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TRDIHRNYVD | CVRWLGDLIL | SKSCENAIVC | WKPGKMEDDI | DKIKPSESNV | TILGRFDYSQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CDIWYMRFSM | DFWQKMLALG | NQVGKLYVWD | LEVEDPHKAK | CTTLTHHKCG | AAIRQTSFSR |
| 430 | 440 | ||||
| DSSILIAVCD | DASIWRWDRL | R |