O75794
Gene name |
CDC123 (C10orf7, D123) |
Protein name |
Cell division cycle protein 123 homolog |
Names |
Protein D123, HT-1080, PZ32 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8872 |
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
3 structures for O75794
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8PHD | X-ray | 208 A | A/C | 1-336 | PDB |
| 8PHV | X-ray | 197 A | A/C | 1-336 | PDB |
| AF-O75794-F1 | Predicted | AlphaFoldDB |
238 variants for O75794
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5409269 rs778175088 |
2 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5409271 rs764952080 |
5 | H>QSLHWN* | No |
ClinGen ExAC |
|
|
CA376018988 rs1422079302 |
5 | H>R | No |
ClinGen gnomAD |
|
|
CA202599367 rs780672584 |
6 | V>L | No |
ClinGen Ensembl |
|
|
CA5409273 rs138564420 |
7 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5409274 rs138564420 |
7 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5409275 rs769978738 |
8 | H>P | No |
ClinGen ExAC TOPMed |
|
|
rs1564430178 CA376019001 |
8 | H>Y | No |
ClinGen Ensembl |
|
|
rs375416169 CA5409276 |
9 | C>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1219379123 CA376019012 |
9 | C>S | No |
ClinGen TOPMed |
|
|
rs1374978565 CA376019016 |
10 | Q>E | No |
ClinGen gnomAD |
|
|
rs1415346823 CA376019020 |
10 | Q>R | No |
ClinGen gnomAD |
|
|
rs762685799 CA5409277 |
11 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5409278 rs768428123 |
12 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202599483 rs768428123 |
12 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376019039 rs1232065787 |
13 | A>V | No |
ClinGen gnomAD |
|
|
CA376019053 rs1277822590 |
15 | Y>C | No |
ClinGen gnomAD |
|
|
rs1312610274 CA376019061 |
16 | P>L | No |
ClinGen gnomAD |
|
|
rs1312610274 CA376019062 |
16 | P>R | No |
ClinGen gnomAD |
|
|
CA376019087 rs767206968 |
20 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767206968 CA5409283 |
20 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457112370 CA376019089 |
21 | V>L | No |
ClinGen TOPMed |
|
|
rs1350484365 CA376019645 |
26 | V>F | No |
ClinGen gnomAD |
|
|
CA376019651 rs1296267715 |
27 | I>F | No |
ClinGen gnomAD |
|
|
rs760295026 CA5409309 |
28 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5409310 rs765850399 |
29 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA376019674 rs1353855260 |
31 | P>S | No |
ClinGen gnomAD |
|
|
rs1227314142 CA376019694 |
34 | V>L | No |
ClinGen gnomAD |
|
|
rs1261613976 CA376019737 |
40 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5409314 rs751899083 |
41 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300721430 CA376019768 |
44 | L>V | No |
ClinGen TOPMed |
|
|
rs1265710997 CA376019831 |
49 | R>K | No |
ClinGen gnomAD |
|
|
rs762166828 CA5409336 |
50 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs767809354 CA5409337 |
52 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA376020975 rs767809354 |
52 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5409338 rs368224444 |
53 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1234489864 CA376021037 |
55 | H>R | No |
ClinGen gnomAD |
|
|
rs1341927716 CA376021097 |
58 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5409340 rs766413197 |
58 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754964626 CA376021107 |
59 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754964626 CA5409342 |
59 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753936146 CA5409341 |
59 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376978351 CA376021122 |
60 | S>G | No |
ClinGen gnomAD |
|
|
rs150662961 CA5409343 |
63 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376021271 rs1196969500 |
67 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1219597252 CA376021295 |
68 | Q>H | No |
ClinGen TOPMed |
|
|
rs935509051 CA202618213 |
70 | S>P | No |
ClinGen gnomAD |
|
|
CA376021358 rs1291175036 |
73 | E>K | No |
ClinGen TOPMed |
|
|
rs1588671850 CA376021375 |
75 | T>P | No |
ClinGen Ensembl |
|
|
rs1199476947 CA376021404 |
77 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs576857381 CA5409369 |
78 | L>P | No |
ClinGen ExAC gnomAD |
|
| rs758301266 | 79 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138912400 CA5409370 |
79 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA202622901 rs149270225 |
80 | A>V | No |
ClinGen ESP |
|
|
CA376022082 rs1564435594 |
82 | E>A | No |
ClinGen Ensembl |
|
|
rs938691051 CA202622910 |
84 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA376022154 rs1286541186 |
87 | A>T | No |
ClinGen gnomAD |
|
|
rs778633088 CA5409395 |
89 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA376022207 rs1179793011 |
90 | V>I | No |
ClinGen gnomAD |
|
|
rs747698461 CA5409396 |
91 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs559601502 CA5409397 |
91 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1580671 CA5409398 rs192960310 |
92 | E>D | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5409399 rs376245493 |
95 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5409400 rs376245493 |
95 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774688918 CA5409404 |
98 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs752899035 CA5409403 CA202622987 |
98 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376022414 rs1185659696 |
100 | S>N | No |
ClinGen gnomAD |
|
|
rs767388939 CA5409406 |
104 | K>N | No |
ClinGen ExAC |
|
|
CA202623019 rs975189042 |
107 | W>C | No |
ClinGen TOPMed |
|
|
rs1374741358 CA376022586 |
110 | P>L | No |
ClinGen gnomAD |
|
|
rs766339097 CA5409409 |
110 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs185376289 CA376022594 |
111 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs185376289 CA5409410 |
111 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376023034 rs752168458 |
113 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752168458 CA5409430 |
113 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202624461 rs772896759 |
115 | W>C | No |
ClinGen Ensembl |
|
|
rs777291390 CA5409433 |
117 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA202624490 rs949778008 |
120 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA376023143 rs949778008 |
120 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749636259 CA5409434 |
122 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5409435 rs756604050 |
126 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs769023452 CA5409438 |
127 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1345968916 CA376023223 |
129 | D>G | No |
ClinGen gnomAD |
|
|
CA5409440 rs748209580 |
129 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5409441 rs772124434 |
130 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5409443 rs760876745 |
135 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs770782654 CA5409444 |
136 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA376023280 rs1319396144 |
138 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759324048 CA5409447 |
142 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5409446 rs759324048 |
142 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752610319 CA5409448 COSM1474404 |
142 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762379641 CA5409449 |
143 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376023335 rs1287908897 |
146 | Q>* | No |
ClinGen TOPMed |
|
|
CA5409451 rs751322040 |
147 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs753215008 CA5409477 |
148 | F>C | No |
ClinGen ExAC |
|
|
CA5409478 rs754739630 |
148 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376024348 rs1206125040 |
149 | I>T | No |
ClinGen gnomAD |
|
|
rs1417388405 CA376024337 |
149 | I>V | No |
ClinGen TOPMed |
|
|
rs866260755 CA202639458 |
150 | H>D | No |
ClinGen Ensembl |
|
|
CA5409479 rs777882836 |
151 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA5409480 rs747119577 |
152 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376024407 rs1203259824 |
153 | D>G | No |
ClinGen gnomAD |
|
|
CA376024439 rs1242731959 |
155 | S>F | No |
ClinGen Ensembl |
|
|
CA376024443 rs1019484819 |
156 | P>A | No |
ClinGen TOPMed |
|
|
rs1019484819 CA202639469 |
156 | P>T | No |
ClinGen TOPMed |
|
|
CA376024481 rs1258633088 |
158 | P>L | No |
ClinGen gnomAD |
|
|
CA202639473 rs143995799 |
158 | P>T | No |
ClinGen ESP |
|
|
rs781402437 CA376024491 |
159 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781402437 CA5409482 |
159 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374042519 CA5409483 |
160 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176749719 CA376024499 |
160 | I>V | No |
ClinGen gnomAD |
|
|
CA202639504 rs367583669 |
161 | E>A | No |
ClinGen ESP |
|
|
CA5409485 rs76480057 |
163 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202594094 rs201194027 |
165 | V>A | No |
ClinGen 1000Genomes |
|
|
rs201946780 CA202594092 |
165 | V>F | No |
ClinGen 1000Genomes |
|
|
CA202594097 rs887320669 |
167 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA202594102 rs750545764 |
167 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376010251 rs1197526152 |
169 | W>* | No |
ClinGen gnomAD |
|
|
rs779308094 CA202594114 |
170 | C>R | No |
ClinGen Ensembl |
|
|
CA376010302 rs1490154536 |
172 | L>F | No |
ClinGen gnomAD |
|
|
CA202594117 rs139964730 |
179 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA376010442 rs1199885801 |
179 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA376010454 rs1416089174 |
180 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1192015835 CA376010483 |
182 | V>F | No |
ClinGen gnomAD |
|
|
CA5409508 COSM324958 rs544543131 |
185 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA5409509 rs771779565 |
187 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA202594141 rs868562052 |
188 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5409527 rs780329452 |
190 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279078908 CA376011364 |
192 | Q>E | No |
ClinGen TOPMed |
|
|
CA376011454 rs754878568 |
195 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5409529 rs754878568 |
195 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376011491 rs1564257408 |
196 | T>R | No |
ClinGen Ensembl |
|
|
rs372144142 CA202595148 |
197 | Q>H | No |
ClinGen Ensembl |
|
|
CA5409530 rs778848148 |
199 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310740426 CA376011697 |
204 | K>* | No |
ClinGen gnomAD |
|
|
rs1382116509 CA376011791 |
208 | E>Q | No |
ClinGen gnomAD |
|
|
rs199685440 CA5409531 |
209 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs772028466 CA5409532 |
210 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199948914 CA5409534 |
210 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs199948914 CA5409533 |
210 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376011831 rs1279366353 |
211 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA376011839 rs1238105092 |
212 | C>R | No |
ClinGen gnomAD |
|
|
CA5409536 rs113251077 |
213 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376011868 rs1486652350 |
213 | I>M | No |
ClinGen gnomAD |
|
|
rs113251077 CA5409535 |
213 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1198360091 CA376011875 |
214 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759181793 CA5409537 |
214 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5409539 COSM683057 rs774676048 |
217 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA376011989 rs1477719781 |
218 | K>R | No |
ClinGen Ensembl |
|
|
rs762115529 CA5409540 |
219 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA202595169 rs781357891 |
219 | K>R | No |
ClinGen gnomAD |
|
|
CA5409541 rs543330915 |
220 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376983285 CA5409543 |
221 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA202595175 rs375231033 |
222 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 224 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405499137 CA376012418 |
226 | L>V | No |
ClinGen gnomAD |
|
|
rs766356092 CA5409544 |
229 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs886378710 CA202595757 |
232 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs751551758 CA5409570 |
233 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1268557743 CA376013022 |
233 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA376013019 rs1268557743 |
233 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA202595777 rs781059221 |
234 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373454189 CA5409571 |
234 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs997489109 CA202595764 |
234 | I>V | No |
ClinGen TOPMed |
|
|
rs745412087 CA5409573 |
236 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1171169100 CA376013074 |
236 | R>I | No |
ClinGen gnomAD |
|
|
rs779695804 CA5409575 |
238 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202198297 CA5409600 |
241 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1234640762 CA376014763 |
241 | K>R | No |
ClinGen TOPMed |
|
|
CA376014781 rs778582325 CA5409601 |
242 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1460018394 CA376014889 |
246 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1183010764 CA376014946 |
249 | P>T | No |
ClinGen gnomAD |
|
|
rs1482986586 CA376015015 |
254 | T>A | No |
ClinGen TOPMed |
|
|
rs1272970345 CA376015041 |
255 | D>E | No |
ClinGen TOPMed |
|
|
CA5409604 rs781768756 |
258 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA376015099 rs1406968068 |
260 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1160806519 CA376015140 |
262 | E>G | No |
ClinGen gnomAD |
|
|
CA376015171 rs1403332098 |
264 | L>Q | No |
ClinGen gnomAD |
|
|
CA376015179 rs1451310147 |
265 | I>L | No |
ClinGen gnomAD |
|
|
CA376015183 rs1336771797 |
265 | I>M | No |
ClinGen gnomAD |
|
|
CA376015194 rs1450741266 |
267 | E>G | No |
ClinGen gnomAD |
|
|
CA5409606 rs200396218 |
269 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1350371114 CA376015217 |
270 | L>* | No |
ClinGen gnomAD |
|
|
CA5409609 rs142243159 |
272 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
CA5409608 rs533667025 |
272 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376015239 rs1203116629 |
273 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1203116629 CA376015238 |
273 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1203116629 CA376015241 |
273 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5409611 rs761608292 |
274 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1444118429 CA376015267 |
275 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1232133309 CA376015305 |
277 | V>A | No |
ClinGen gnomAD |
|
|
rs576722777 CA5409612 |
277 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5409614 rs546090484 |
279 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765923556 CA5409615 |
279 | A>V | No |
ClinGen ExAC |
|
|
CA376015336 rs1175670475 |
280 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5409635 rs201298802 |
284 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764794619 CA5409637 |
285 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913696153 CA202603252 |
285 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752328200 CA5409638 |
288 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs542550865 CA5409639 |
288 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs763787783 CA5409640 |
289 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs750845234 CA5409641 |
291 | N>H | No |
ClinGen ExAC gnomAD |
|
|
COSM35500 rs538371163 CA5409643 |
293 | E>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1043788425 CA202603293 |
295 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 298 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376017289 rs1380687691 |
299 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 301 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5409648 rs772305529 |
301 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5409649 rs773387080 |
302 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA376017327 rs1312858426 |
305 | R>Q | No |
ClinGen gnomAD |
|
|
CA376017325 rs1230579204 |
305 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs545126704 CA376017357 |
307 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5409650 rs545126704 |
307 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1588687068 CA376017368 |
308 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 312 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770706077 COSM427154 CA5409651 |
314 | S>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs937991849 CA202603332 |
315 | T>A | No |
ClinGen Ensembl |
|
|
CA5409652 rs776493318 |
315 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181162781 CA376017576 |
316 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA376017588 rs1588687086 |
317 | E>G | No |
ClinGen Ensembl |
|
|
CA5409654 rs564944253 |
319 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775160022 CA5409655 |
320 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775160022 CA376017650 |
320 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013800906 CA202603374 |
321 | K>Q | No |
ClinGen Ensembl |
|
|
rs1389591197 CA376017703 |
323 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 324 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381961575 CA376017740 |
325 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1334704684 CA376017729 |
325 | F>L | No |
ClinGen gnomAD |
|
|
rs1334704684 CA376017731 |
325 | F>V | No |
ClinGen gnomAD |
|
|
rs1453264482 CA376017761 |
327 | K>E | No |
ClinGen gnomAD |
|
|
rs1314684622 CA376017774 |
327 | K>N | No |
ClinGen gnomAD |
|
|
rs766703762 CA5409678 |
331 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5409677 rs761496407 |
331 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5409680 rs759781696 |
336 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA376018005 rs1197493446 CA376018006 |
337 | D>R | No |
ClinGen gnomAD |
|
|
rs1428741429 CA376018012 |
337 | D>W | No |
ClinGen gnomAD |
No associated diseases with O75794
8 regional properties for O75794
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 11 - 49 | IPR001680-1 |
| repeat | WD40 repeat | 73 - 113 | IPR001680-2 |
| repeat | WD40 repeat | 156 - 195 | IPR001680-3 |
| repeat | WD40 repeat | 206 - 246 | IPR001680-4 |
| repeat | WD40 repeat | 265 - 303 | IPR001680-5 |
| repeat | WD40 repeat | 466 - 506 | IPR001680-6 |
| conserved_site | Protein phosphatase 2A regulatory subunit PR55, conserved site | 73 - 87 | IPR018067-1 |
| conserved_site | Protein phosphatase 2A regulatory subunit PR55, conserved site | 165 - 179 | IPR018067-2 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| eukaryotic translation initiation factor 2 complex assembly | The aggregation, arrangement and bonding together of a set of components to form an eukaryotic translation initiation factor 2 complex. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of translational initiation | Any process that activates or increases the frequency, rate or extent of translational initiation. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05791 | CDC123 | Cell division cycle protein 123 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKKEHVLHCQ | FSAWYPFFRG | VTIKSVILPL | PQNVKDYLLD | DGTLVVSGRD | DPPTHSQPDS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DDEAEEIQWS | DDENTATLTA | PEFPEFATKV | QEAINSLGGS | VFPKLNWSAP | RDAYWIAMNS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLKCKTLSDI | FLLFKSSDFI | TRDFTQPFIH | CTDDSPDPCI | EYELVLRKWC | ELIPGAEFRC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FVKENKLIGI | SQRDYTQYYD | HISKQKEEIR | RCIQDFFKKH | IQYKFLDEDF | VFDIYRDSRG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KVWLIDFNPF | GEVTDSLLFT | WEELISENNL | NGDFSEVDAQ | EQDSPAFRCT | NSEVTVQPSP |
| 310 | 320 | 330 | |||
| YLSYRLPKDF | VDLSTGEDAH | KLIDFLKLKR | NQQEDD |