P17275
Gene name |
JUNB |
Protein name |
Transcription factor JunB |
Names |
Transcription factor AP-1 subunit JunB |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3726 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P17275
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P17275-F1 | Predicted | AlphaFoldDB |
279 variants for P17275
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA305483810 rs1057444264 |
8 | P>L | No |
ClinGen TOPMed |
|
|
CA9231315 rs373960755 |
9 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404247158 rs1568381700 |
11 | H>D | No |
ClinGen Ensembl |
|
|
CA404247164 rs1347227944 |
11 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 12 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9231317 rs766066573 |
12 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9231319 rs754548911 |
13 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs752094779 CA9231321 |
15 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA9231320 rs780779147 |
15 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA404247201 rs1232120106 |
17 | A>G | No |
ClinGen gnomAD |
|
|
CA404247198 rs1205150783 |
17 | A>P | No |
ClinGen gnomAD |
|
|
rs1205150783 CA404247197 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs377693229 CA9231322 |
18 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305483830 rs953847426 COSM40208 |
18 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1245715051 CA404247210 |
19 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1245715051 CA404247212 |
19 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1475565285 CA404247234 |
23 | A>S | No |
ClinGen gnomAD |
|
|
rs1475565285 CA404247232 |
23 | A>T | No |
ClinGen gnomAD |
|
|
CA9231323 rs566143821 |
24 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404247264 rs1164060447 |
27 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 28 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305483841 rs866222059 |
30 | H>L | No |
ClinGen Ensembl |
|
| TCGA novel | 30 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404247312 rs1367407948 |
31 | D>G | No |
ClinGen gnomAD |
|
|
CA305483849 rs536479159 |
32 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA305483844 rs1043310256 |
32 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 32 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404247339 rs1422464584 |
33 | K>Q | No |
ClinGen gnomAD |
|
|
rs747275291 CA9231327 |
34 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231328 rs768700647 |
35 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404247382 rs776776576 |
36 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231330 rs761795034 |
37 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs377194147 CA9231332 |
38 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs984257736 CA305483858 |
38 | S>I | No |
ClinGen Ensembl |
|
|
CA404247408 rs762774654 CA9231333 |
38 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 40 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766190076 CA9231334 |
40 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231336 rs759244188 |
41 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774085996 CA9231335 |
41 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767015453 CA9231337 |
42 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs765894648 CA9231340 CA404247520 |
45 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231339 rs755566344 |
45 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1259757621 CA404247556 |
47 | Y>S | No |
ClinGen TOPMed |
|
|
CA9231341 rs202243098 |
48 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758936159 CA9231342 |
49 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs780577573 CA9231343 |
50 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404247612 rs1313767820 |
50 | L>V | No |
ClinGen TOPMed |
|
|
rs1215954843 CA404247659 |
52 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA404247661 rs1215954843 |
52 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404247670 rs1404267178 |
53 | P>R | No |
ClinGen TOPMed |
|
|
rs570057440 CA9231345 |
53 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA404247679 rs1385480818 |
54 | G>E | No |
ClinGen gnomAD |
|
|
CA404247701 rs1402249326 |
56 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9231346 rs781257277 |
56 | R>P | No |
ClinGen ExAC |
|
|
CA404247707 rs1320462888 |
57 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748304885 CA9231347 |
57 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404247726 rs917127281 |
58 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA305483884 rs917127281 |
58 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1315876476 CA404247768 |
62 | G>S | No |
ClinGen gnomAD |
|
|
rs1243337013 CA404247799 |
64 | G>V | No |
ClinGen gnomAD |
|
|
rs144512497 CA9231349 |
67 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9231350 rs749248636 |
67 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231351 rs770800888 |
68 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9231352 rs774203546 |
70 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404247888 rs774203546 |
70 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404247926 rs1244520205 |
72 | Q>R | No |
ClinGen gnomAD |
|
|
rs367885167 CA9231353 |
73 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404247949 rs1186683105 |
73 | G>V | No |
ClinGen gnomAD |
|
|
CA404247980 rs1156709805 |
75 | D>A | No |
ClinGen gnomAD |
|
|
rs1187256679 CA404248008 |
77 | G>C | No |
ClinGen gnomAD |
|
|
CA404248060 rs1418867576 |
80 | L>F | No |
ClinGen gnomAD |
|
|
rs763730409 CA9231357 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404248164 rs1260381083 |
86 | E>K | No |
ClinGen TOPMed |
|
|
CA9231359 rs758977122 |
88 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA404248239 rs766988061 |
89 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766988061 CA9231360 |
89 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9231362 rs372072460 |
91 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781514054 CA9231363 |
93 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1251089961 CA404248346 |
95 | S>N | No |
ClinGen gnomAD |
|
|
rs748346774 CA9231364 |
96 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1250883191 CA404248410 |
99 | I>S | No |
ClinGen gnomAD |
|
|
CA305483933 rs980577138 |
102 | T>M | No |
ClinGen TOPMed |
|
|
rs927787776 CA305483941 |
104 | T>K | No |
ClinGen TOPMed |
|
|
CA404248474 rs1599523145 |
105 | P>H | No |
ClinGen Ensembl |
|
|
rs1464567544 CA404248465 |
105 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1393717100 CA404248493 |
107 | G>A | No |
ClinGen gnomAD |
|
|
CA9231367 rs749301986 |
107 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 108 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404248552 rs1336529156 |
110 | F>L | No |
ClinGen TOPMed |
|
|
rs1306549669 CA404248560 |
111 | Y>F | No |
ClinGen gnomAD |
|
|
CA404248554 rs1466447660 |
111 | Y>N | No |
ClinGen TOPMed |
|
|
rs770925811 CA9231368 |
112 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA404248582 rs774146698 |
113 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA404248590 rs1284764179 |
113 | R>L | No |
ClinGen gnomAD |
|
|
CA9231369 rs774146698 |
113 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1329014840 CA404248594 |
114 | G>R | No |
ClinGen gnomAD |
|
|
rs893825151 CA305483964 |
115 | G>D | No |
ClinGen Ensembl |
|
|
CA305483965 rs960436516 |
116 | G>D | No |
ClinGen TOPMed |
|
|
CA404248639 rs1251421252 |
117 | S>G | No |
ClinGen gnomAD |
|
|
rs1341377695 CA404248647 |
117 | S>I | No |
ClinGen gnomAD |
|
|
rs1203005432 CA404248657 |
117 | S>R | No |
ClinGen gnomAD |
|
|
CA305483970 rs746632492 |
118 | G>A | No |
ClinGen TOPMed |
|
|
CA404248662 rs1273846175 |
118 | G>S | No |
ClinGen gnomAD |
|
|
CA9231370 rs199665194 |
119 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1431703781 CA404248697 |
120 | G>S | No |
ClinGen gnomAD |
|
|
rs1198243931 CA404248706 |
120 | G>V | No |
ClinGen gnomAD |
|
|
rs1599523193 CA404248712 |
121 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 121 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431724001 CA404248739 |
122 | G>R | No |
ClinGen gnomAD |
|
|
rs1568381884 CA404248747 |
122 | G>V | No |
ClinGen Ensembl |
|
|
rs1167192798 CA404248762 |
123 | G>D | No |
ClinGen gnomAD |
|
|
CA404248755 rs1446148725 |
123 | G>S | No |
ClinGen TOPMed |
|
|
CA9231373 rs541000941 |
124 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404248769 rs541000941 |
124 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1295700988 CA404248790 |
125 | G>E | No |
ClinGen gnomAD |
|
| rs1425641451 | 126 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760427973 CA9231374 |
126 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA404248797 rs1385933363 |
126 | G>D | No |
ClinGen gnomAD |
|
|
CA404248795 rs760427973 |
126 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs761390844 CA9231377 |
129 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1360135665 CA404248868 |
130 | E>* | No |
ClinGen gnomAD |
|
|
rs901459201 CA305483993 |
133 | E>K | No |
ClinGen gnomAD |
|
|
CA404249010 rs1262706824 |
137 | D>E | No |
ClinGen gnomAD |
|
|
CA404249061 rs1186782662 |
140 | V>I | No |
ClinGen gnomAD |
|
|
rs1445806166 CA404249098 |
142 | A>V | No |
ClinGen gnomAD |
|
|
rs1338655988 CA404249137 |
146 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 147 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432201177 CA404249186 |
149 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1390419713 CA404249182 |
149 | M>T | No |
ClinGen gnomAD |
|
|
CA9231385 rs753977029 |
150 | N>K | No |
ClinGen ExAC |
|
|
rs757312121 CA9231386 |
152 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs552829543 CA305484015 |
153 | T>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9231389 rs771999822 |
153 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs779715555 CA9231390 |
154 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779715555 CA404249240 |
154 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310504842 CA404249234 |
154 | P>T | No |
ClinGen gnomAD |
|
|
CA404249247 rs1261486147 |
155 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404249249 rs1261486147 |
155 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404249261 rs574468971 |
156 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404249278 rs1206864789 |
158 | S>F | No |
ClinGen gnomAD |
|
|
rs868043822 CA305484027 |
159 | L>M | No |
ClinGen Ensembl |
|
|
rs983898357 CA305484029 |
161 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1184045320 CA404249310 |
162 | T>A | No |
ClinGen gnomAD |
|
|
rs563477406 CA9231393 |
162 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9231394 rs761448856 |
164 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs769217729 CA404249325 |
165 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA305484040 rs769217729 |
165 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9231395 rs769217729 |
165 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA404249341 rs1599523316 |
167 | A>V | No |
ClinGen Ensembl |
|
|
rs1599523322 CA404249350 |
168 | G>A | No |
ClinGen Ensembl |
|
|
CA404249362 rs1406106205 |
169 | P>L | No |
ClinGen gnomAD |
|
|
CA404249357 rs1175755412 |
169 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404249364 rs1449594379 CA404249365 |
170 | G>R | No |
ClinGen gnomAD |
|
|
CA404249376 rs1378385060 |
171 | G>D | No |
ClinGen gnomAD |
|
|
rs772728902 CA9231396 |
171 | G>S | No |
ClinGen ExAC |
|
|
rs1391742278 CA404249382 |
172 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 172 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530685477 CA9231397 |
174 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305484054 rs972415074 |
175 | G>V | No |
ClinGen Ensembl |
|
|
CA9231398 rs768002938 |
176 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1226853530 CA404249449 |
178 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1290476249 CA404249477 |
181 | V>I | No |
ClinGen TOPMed |
|
|
rs1236180660 CA404249538 |
186 | S>T | No |
ClinGen gnomAD |
|
|
rs1483236669 CA404249550 |
187 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1254489511 CA404249577 |
189 | S>F | No |
ClinGen gnomAD |
|
|
CA305484061 rs950028337 |
189 | S>P | No |
ClinGen Ensembl |
|
|
rs1471823839 CA404249584 |
190 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs12151069 CA305484064 |
191 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs12151069 CA404249586 |
191 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1429597994 CA404249591 |
191 | A>V | No |
ClinGen gnomAD |
|
|
CA404249612 rs1173408858 |
193 | A>V | No |
ClinGen gnomAD |
|
|
CA404249628 rs1241163103 |
195 | S>A | No |
ClinGen TOPMed |
|
|
rs980409552 CA305484072 |
196 | G>R | No |
ClinGen Ensembl |
|
|
rs757464520 CA9231403 |
197 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348329488 CA404249670 |
198 | A>G | No |
ClinGen gnomAD |
|
|
CA404249692 rs1287919541 |
200 | A>P | No |
ClinGen gnomAD |
|
|
CA404249690 rs1287919541 |
200 | A>T | No |
ClinGen gnomAD |
|
|
CA404249719 rs1368598215 |
202 | V>I | No |
ClinGen gnomAD |
|
|
CA305484085 rs867100888 |
203 | G>W | No |
ClinGen Ensembl |
|
|
CA9231406 CA305484096 rs758331384 |
205 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17881800 CA404249786 |
206 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404249807 rs1277405323 |
207 | S>L | No |
ClinGen gnomAD |
|
|
CA404249843 rs1181936871 |
210 | T>A | No |
ClinGen gnomAD |
|
|
rs1599523447 CA404249857 |
211 | T>A | No |
ClinGen Ensembl |
|
|
CA9231408 rs746846753 |
211 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs754784488 CA9231409 |
212 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1188943207 CA404249879 |
213 | I>V | No |
ClinGen gnomAD |
|
|
CA404249935 rs1428604281 |
216 | L>F | No |
ClinGen gnomAD |
|
|
rs1420005431 CA404249937 |
216 | L>H | No |
ClinGen TOPMed |
|
|
rs1170334932 CA404249952 |
217 | P>L | No |
ClinGen gnomAD |
|
|
CA9231412 rs769429431 |
218 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs747823735 CA9231411 |
218 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893934130 CA305484133 |
219 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA305484139 rs1002071250 |
219 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1366919180 CA404249987 |
220 | P>L | No |
ClinGen gnomAD |
|
|
rs373004953 CA9231413 |
220 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772513594 CA9231415 |
221 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748828172 CA9231414 |
221 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775954192 CA9231417 |
223 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs775954192 CA9231416 |
223 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9231419 rs776935129 |
224 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs111454909 CA305484185 |
226 | H>P | No |
ClinGen Ensembl |
|
|
rs765490204 CA9231421 |
227 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404250127 rs1217424977 |
227 | P>S | No |
ClinGen TOPMed |
|
|
CA404250150 rs1448833943 |
228 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs766454731 CA9231424 |
228 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448833943 CA404250155 |
228 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1346165904 CA404250188 |
230 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404250185 rs1346165904 |
230 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
VAR_021081 rs17880705 CA9231425 |
230 | L>V | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
CA404250221 rs1403399172 |
232 | L>S | No |
ClinGen gnomAD |
|
|
rs1285525204 CA404250250 |
234 | R>H | No |
ClinGen TOPMed |
|
|
rs747907900 CA9231428 |
235 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs113612911 CA9231427 |
235 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322696442 CA404250270 |
236 | A>S | No |
ClinGen gnomAD |
|
|
rs1322696442 CA404250272 |
236 | A>T | No |
ClinGen gnomAD |
|
|
rs1228380424 CA404250336 |
238 | T>S | No |
ClinGen gnomAD |
|
|
rs1358826438 CA404250346 |
239 | F>L | No |
ClinGen gnomAD |
|
|
rs1210022588 CA404250436 |
243 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs777470976 CA9231430 |
243 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404250463 rs1430795359 |
246 | V>A | No |
ClinGen TOPMed |
|
|
CA404250458 rs1245739918 |
246 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 247 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404250493 rs1464060530 |
249 | A>G | No |
ClinGen gnomAD |
|
|
rs1239168473 CA404250502 |
250 | R>C | No |
ClinGen gnomAD |
|
|
CA9231431 rs377604283 |
250 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404250508 COSM48457 rs377604283 |
250 | R>L | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 252 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404250580 rs1599523557 |
254 | A>T | No |
ClinGen Ensembl |
|
|
CA404250603 rs1161449953 |
255 | T>M | No |
ClinGen gnomAD |
|
|
CA404250639 rs1599523564 |
258 | V>A | No |
ClinGen Ensembl |
|
|
CA9231433 rs773814712 |
258 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404250678 rs1284014450 |
261 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404250680 rs1284014450 |
261 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404250727 rs1329420658 |
263 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1229911819 CA404250737 |
264 | E>K | No |
ClinGen gnomAD |
|
|
rs998464360 CA305484256 |
268 | R>L | No |
ClinGen Ensembl |
|
|
CA404250890 rs1327823383 |
272 | E>K | No |
ClinGen gnomAD |
|
|
rs1200560358 CA404250920 |
273 | R>C | No |
ClinGen gnomAD |
|
|
CA404250944 rs1258158000 |
275 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 277 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374496104 CA9231436 |
279 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404251017 rs1215354308 |
279 | R>P | No |
ClinGen TOPMed |
|
|
rs202032423 CA9231438 |
281 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs202032423 CA404251060 |
281 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404251074 rs1410069842 |
282 | A>G | No |
ClinGen gnomAD |
|
|
CA404251070 rs1599523608 |
282 | A>S | No |
ClinGen Ensembl |
|
|
CA404251141 rs1599523620 |
285 | C>G | No |
ClinGen Ensembl |
|
|
rs1173281612 CA404251162 |
286 | R>W | No |
ClinGen gnomAD |
|
|
CA404251276 rs1333908278 |
292 | R>H | No |
ClinGen gnomAD |
|
|
CA404251278 rs1333908278 |
292 | R>P | No |
ClinGen gnomAD |
|
|
CA404251347 rs1222033802 |
297 | E>D | No |
ClinGen TOPMed |
|
|
CA404251416 rs1286020998 |
302 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770362511 CA9231440 |
305 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404251480 rs1257318184 |
308 | A>T | No |
ClinGen gnomAD |
|
|
CA404251518 rs1199753940 |
311 | S>L | No |
ClinGen gnomAD |
|
|
CA404251526 rs1483889136 |
312 | S>N | No |
ClinGen gnomAD |
|
|
rs1599523656 CA404251532 |
313 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 314 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9231444 rs767556313 |
314 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404251558 rs1199666124 |
315 | G>S | No |
ClinGen gnomAD |
|
|
CA404251592 rs1173518782 |
318 | R>W | No |
ClinGen gnomAD |
|
|
rs755915436 CA9231446 |
319 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1599523681 CA404251662 |
324 | L>F | No |
ClinGen Ensembl |
|
|
rs1568382132 CA404251695 |
326 | Q>H | No |
ClinGen Ensembl |
|
|
rs753562214 CA9231448 |
329 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9231449 rs756858322 |
330 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA404251773 rs1302978545 |
332 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1302978545 CA404251771 |
332 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 335 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305484334 rs201669552 |
337 | Q>H | No |
ClinGen Ensembl |
|
|
rs566081553 CA305484336 |
340 | L>F | No |
ClinGen 1000Genomes |
|
|
CA9231450 rs778411292 |
341 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1599523705 CA404251953 |
342 | V>G | No |
ClinGen Ensembl |
|
|
rs745319469 CA9231451 |
346 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with P17275
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
| transcription factor AP-1 complex | A heterodimeric transcription factor complex composed of proteins from the c-Fos, c-Jun, activating transcription factor (ATF) or JDP families. The subunits contain a basic leucine zipper (bZIP) domain that is essential for dimerization and DNA binding. Jun-Fos heterodimers bind preferentially to a heptamer consensus sequence (TPA responsive element (TRE)), whereas Jun-ATF dimers bind the cyclic AMP responsive element (CRE) to regulate transcription of target genes. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| decidualization | The cellular and vascular changes occurring in the endometrium of the pregnant uterus just after the onset of blastocyst implantation. This process involves the proliferation and differentiation of the fibroblast-like endometrial stromal cells into large, polyploid decidual cells that eventually form the maternal component of the placenta. |
| embryonic process involved in female pregnancy | A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother. |
| integrated stress response signaling | The series of molecular signals generated in response to diverse stress stimuli required to restore cellular homeostasis. The core event in this pathway is the phosphorylation of eIF2 alpha by one of four members of the eIF2a kinase family (EIF2AK1/HRI, EIF2AK2/PKR, EIF2AK3/PERK and EIF2AK4/GCN2), which leads to a decrease in global protein synthesis and the induction of selected genes, including the transcription factor ATF4, that together promote cellular recovery. |
| labyrinthine layer blood vessel development | The process whose specific outcome is the progression of a blood vessel of the labyrinthine layer of the placenta over time, from its formation to the mature structure. The embryonic vessels grow through the layer to come in close contact with the maternal blood supply. |
| osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
| osteoblast proliferation | The multiplication or reproduction of osteoblasts, resulting in the expansion of an osteoblast cell population. An osteoblast is a bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone. |
| osteoclast differentiation | The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. |
| osteoclast proliferation | The multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes. |
| positive regulation of cell differentiation | Any process that activates or increases the frequency, rate or extent of cell differentiation. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of T-helper 17 cell differentiation | Any process that modulates the frequency, rate or extent of T-helper 17 cell differentiation. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| trophectodermal cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a trophectoderm cell. |
| vasculogenesis | The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MCTKMEQPFY | HDDSYTATGY | GRAPGGLSLH | DYKLLKPSLA | VNLADPYRSL | KAPGARGPGP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EGGGGGSYFS | GQGSDTGASL | KLASSELERL | IVPNSNGVIT | TTPTPPGQYF | YPRGGGSGGG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AGGAGGGVTE | EQEGFADGFV | KALDDLHKMN | HVTPPNVSLG | ATGGPPAGPG | GVYAGPEPPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VYTNLSSYSP | ASASSGGAGA | AVGTGSSYPT | TTISYLPHAP | PFAGGHPAQL | GLGRGASTFK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEPQTVPEAR | SRDATPPVSP | INMEDQERIK | VERKRLRNRL | AATKCRKRKL | ERIARLEDKV |
| 310 | 320 | 330 | 340 | ||
| KTLKAENAGL | SSTAGLLREQ | VAQLKQKVMT | HVSNGCQLLL | GVKGHAF |