P49116
PR
Gene name |
NR2C2 (TAK1, TR4) |
Protein name |
Nuclear receptor subfamily 2 group C member 2 |
Names |
Orphan nuclear receptor TAK1, Orphan nuclear receptor TR4, Testicular receptor 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7182 |
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
308 variants for P49116
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA351563443 rs1574989925 |
2 | T>P | No |
ClinGen Ensembl |
|
|
CA2272493 rs769305398 |
3 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2272495 rs762363329 |
5 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1451581106 CA351563531 |
7 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2272496 rs146761800 |
7 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1364743163 CA351563545 |
8 | I>V | No |
ClinGen gnomAD |
|
|
CA351563639 rs1559557946 |
14 | D>E | No |
ClinGen Ensembl |
|
|
CA2272497 rs774442457 |
14 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 15 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2272498 rs759479104 |
15 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs767451790 CA2272499 |
16 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA70557225 rs144140973 |
17 | V>I | No |
ClinGen ESP gnomAD |
|
|
CA2272500 rs752387125 |
18 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1000829368 CA351563704 |
19 | S>A | No |
ClinGen gnomAD |
|
|
rs1000829368 CA70557232 |
19 | S>T | No |
ClinGen gnomAD |
|
|
rs959100499 CA70557238 COSM1617056 |
20 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs764193834 CA2272502 |
22 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199933863 CA2272503 |
22 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779553060 CA2272556 |
26 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA351566921 rs1182622355 |
31 | T>A | No |
ClinGen TOPMed |
|
|
rs1421390368 CA351566931 |
32 | G>R | No |
ClinGen TOPMed |
|
|
COSM3427205 rs768593648 CA2272558 |
40 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 41 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70561086 rs763702015 |
43 | A>T | No |
ClinGen gnomAD |
|
|
rs1436001214 CA351567112 |
44 | S>P | No |
ClinGen gnomAD |
|
|
rs145012695 CA2272561 |
45 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2272562 rs773434225 |
47 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70561101 rs973869457 |
48 | K>R | No |
ClinGen Ensembl |
|
|
CA2272563 rs560056358 |
49 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA70561111 rs922060740 |
54 | T>S | No |
ClinGen gnomAD |
|
|
rs1240648968 CA351567308 |
55 | S>G | No |
ClinGen TOPMed |
|
|
CA351567333 rs1229416135 |
56 | P>S | No |
ClinGen gnomAD |
|
|
CA351567353 rs1329263212 |
57 | D>E | No |
ClinGen TOPMed |
|
|
CA70561123 rs201268512 |
59 | A>G | No |
ClinGen 1000Genomes |
|
|
CA351567496 rs1575005272 |
64 | V>A | No |
ClinGen Ensembl |
|
|
CA351567540 rs1302643208 |
67 | A>G | No |
ClinGen TOPMed |
|
|
rs1489442162 CA351567662 |
73 | S>G | No |
ClinGen gnomAD |
|
|
CA2272566 rs760009312 |
74 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367547001 CA2272568 |
77 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA70561134 rs985320397 |
78 | I>V | No |
ClinGen Ensembl |
|
|
rs764497516 CA2272570 |
80 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748535345 CA2272571 |
80 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758033048 CA2272572 |
83 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2272573 rs779457286 |
85 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351567907 rs779457286 |
85 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2272574 rs746510341 |
86 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323376471 CA351568071 |
91 | Q>R | No |
ClinGen gnomAD |
|
|
rs1032997661 CA70562463 |
92 | I>V | No |
ClinGen gnomAD |
|
|
CA351568835 rs1473217829 |
93 | V>F | No |
ClinGen gnomAD |
|
|
rs1473217829 CA351568831 |
93 | V>L | No |
ClinGen gnomAD |
|
|
CA2272599 rs141157692 |
94 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2272598 rs141157692 |
94 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 95 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2272601 rs139070917 |
98 | S>F | No |
ClinGen ESP ExAC |
|
|
rs1480191835 CA351568950 |
99 | V>L | No |
ClinGen gnomAD |
|
|
rs779183935 CA2272602 |
100 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs746020823 CA2272603 |
101 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2272604 rs146514188 COSM1419824 |
101 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA351568977 rs1559294196 |
102 | L>I | No |
ClinGen Ensembl |
|
|
CA2272605 rs775673691 |
105 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473738836 CA351569021 |
105 | K>T | No |
ClinGen TOPMed |
|
|
CA70562482 rs1041717945 |
106 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs769267226 CA2272608 |
107 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149712183 CA70562485 |
107 | D>V | No |
ClinGen ESP TOPMed |
|
|
rs762221262 CA2272609 COSM1419825 |
108 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2272610 rs149174256 |
109 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219354222 CA351569076 |
109 | Q>R | No |
ClinGen gnomAD |
|
|
CA2272611 rs532775515 |
110 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351569087 rs1202809900 |
110 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA70562499 rs532775515 |
110 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2272612 rs759145453 |
111 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs767034518 CA2272613 |
113 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA351569134 rs1207919387 |
114 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2272614 rs752179690 |
116 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA70562517 rs1050484575 |
123 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 125 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351570156 rs1238670176 |
127 | R>C | No |
ClinGen gnomAD |
|
|
rs770223456 CA2272627 |
127 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1451062734 CA351570204 |
132 | V>I | No |
ClinGen gnomAD |
|
|
CA351570541 rs1575015978 |
150 | T>P | No |
ClinGen Ensembl |
|
|
rs1342922719 CA351570627 |
154 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA351570633 rs1429492805 |
155 | S>G | No |
ClinGen gnomAD |
|
|
rs1320790412 CA351570662 |
156 | N>D | No |
ClinGen gnomAD |
|
|
CA2272632 rs760165091 |
158 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1395947798 CA351570988 |
168 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 172 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351571113 rs1292710496 |
173 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 177 | C>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141054676 CA2272637 |
179 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780422495 CA2272639 |
184 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA351571576 rs1278259459 |
186 | S>F | No |
ClinGen gnomAD |
|
|
rs761862106 CA2272656 |
187 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA351571591 rs1231067881 |
188 | Q>R | No |
ClinGen gnomAD |
|
|
CA351571644 rs1252306797 |
193 | P>S | No |
ClinGen TOPMed |
|
|
CA2272659 rs113551154 |
195 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351571701 rs1269732492 |
196 | V>A | No |
ClinGen TOPMed |
|
|
CA351571718 rs1415360171 |
198 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 198 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351571725 rs1559299247 |
199 | E>G | No |
ClinGen Ensembl |
|
|
CA2272662 rs755118131 |
201 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1369184691 CA351571758 |
202 | S>C | No |
ClinGen gnomAD |
|
|
CA2272664 rs752699756 |
203 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286768885 CA351571817 |
206 | A>T | No |
ClinGen TOPMed |
|
|
CA351571935 rs1172057666 |
212 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70566561 rs906650554 |
226 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2272671 rs139146701 |
230 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351572469 rs1253947455 |
231 | K>E | No |
ClinGen gnomAD |
|
|
rs761212595 CA2272673 |
231 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2272674 rs141549777 |
233 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs946437682 CA70567098 |
239 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs145414944 CA70567107 |
241 | D>E | No |
ClinGen ESP TOPMed |
|
|
rs1449211349 CA351573088 |
242 | P>A | No |
ClinGen gnomAD |
|
|
rs1449211349 CA351573087 |
242 | P>T | No |
ClinGen gnomAD |
|
|
CA351573157 rs1169660991 |
244 | M>I | No |
ClinGen gnomAD |
|
|
CA2272689 rs768409674 |
246 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747764904 CA2272691 |
247 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1163396890 CA351573248 |
248 | I>T | No |
ClinGen TOPMed |
|
|
rs149255046 CA2272693 |
250 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA70567159 rs760341630 |
251 | P>T | No |
ClinGen gnomAD |
|
|
CA2272694 rs763027702 |
254 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2272696 rs770972367 |
254 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2272695 rs770972367 |
254 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351573424 rs1338560616 |
257 | G>D | No |
ClinGen gnomAD |
|
|
CA351573419 rs1299560955 |
257 | G>S | No |
ClinGen gnomAD |
|
|
rs759247878 CA2272697 |
258 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1030263426 CA70567207 |
260 | L>P | No |
ClinGen gnomAD |
|
|
CA351573550 rs1206326699 |
262 | A>T | No |
ClinGen gnomAD |
|
|
CA2272698 rs145356913 |
263 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1472992921 CA351574864 |
267 | A>S | No |
ClinGen gnomAD |
|
|
CA351574937 rs1161619901 |
270 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 270 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249604826 CA351574992 |
272 | G>E | No |
ClinGen TOPMed |
|
|
rs1357686163 CA351575006 COSM1419846 |
273 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1465327605 CA351575117 |
275 | G>D | No |
ClinGen gnomAD |
|
|
rs376545211 CA70570089 |
276 | T>A | No |
ClinGen Ensembl |
|
|
rs760925605 CA2272718 |
278 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2272719 rs764276274 |
279 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351575892 rs1274890940 |
282 | T>I | No |
ClinGen TOPMed |
|
|
rs761874011 CA2272721 |
284 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1229736222 CA351575920 |
285 | A>T | No |
ClinGen gnomAD |
|
|
rs1311270775 CA351575967 |
286 | N>I | No |
ClinGen gnomAD |
|
|
rs376601970 CA70570152 |
290 | S>A | No |
ClinGen ESP |
|
|
rs142370279 CA2272722 |
292 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351576072 rs1278602633 |
293 | N>S | No |
ClinGen gnomAD |
|
|
CA70570167 rs539096447 |
294 | G>S | No |
ClinGen Ensembl |
|
|
rs766697831 CA2272725 |
296 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2272724 rs758903372 |
296 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483405793 CA351576120 |
297 | S>L | No |
ClinGen gnomAD |
|
|
rs1409782978 CA351576145 |
299 | I>M | No |
ClinGen TOPMed |
|
|
rs915549408 CA70570200 |
300 | Q>H | No |
ClinGen Ensembl |
|
|
rs981139541 CA70570210 |
302 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1331351791 CA351576196 |
304 | Q>H | No |
ClinGen TOPMed |
|
|
CA2272727 rs755891629 |
305 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2272726 rs751934355 |
305 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs777565688 CA2272728 |
306 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs748884723 CA2272729 |
307 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1167847382 CA351576258 |
311 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 313 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749925670 CA2272750 |
314 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs780033916 CA2272752 |
319 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433289118 CA351576449 |
320 | L>V | No |
ClinGen gnomAD |
|
|
CA70571585 rs138369729 |
322 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2272755 rs780912261 |
325 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780912261 CA70571604 |
325 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770039691 CA2272757 |
326 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs370861758 CA2272756 |
326 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs556406030 CA2272758 |
327 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144602409 CA2272760 |
328 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763086657 CA2272759 |
328 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1237869987 CA351576529 |
329 | P>S | No |
ClinGen TOPMed |
|
|
CA2272763 rs768026664 |
331 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 332 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2272764 rs753079599 |
332 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770216385 CA70571667 |
335 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs764927669 CA2272766 |
335 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351576643 rs201585610 |
337 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs201585610 CA70571672 |
337 | T>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2272767 rs749965858 |
340 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1003755380 CA70571678 |
341 | G>E | No |
ClinGen TOPMed |
|
|
rs377462232 CA2272769 |
342 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377462232 CA2272768 |
342 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1433394339 CA351576718 |
344 | H>R | No |
ClinGen gnomAD |
|
|
CA2272770 rs561716347 |
345 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1228902067 CA351576737 |
346 | I>V | No |
ClinGen gnomAD |
|
|
rs754883249 CA2272771 |
348 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2272773 rs747928070 |
349 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1208329952 CA351576771 COSM181527 |
349 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA351576784 rs1180752528 |
350 | Q>H | No |
ClinGen TOPMed |
|
|
CA70571691 rs990978250 |
351 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351576791 rs1362244980 |
352 | T>P | No |
ClinGen gnomAD |
|
|
rs778062884 CA2272775 |
354 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA351576816 rs749414934 |
355 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483545543 CA351576814 |
355 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1409109808 CA351576819 |
356 | E>K | No |
ClinGen gnomAD |
|
|
CA70571700 rs982874444 |
357 | V>I | No |
ClinGen Ensembl |
|
|
rs1159398349 CA351576870 |
360 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs973198666 CA70571717 |
363 | S>L | No |
ClinGen gnomAD |
|
|
rs772683895 CA2272780 |
365 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2272782 rs145430192 |
367 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1315444007 CA351576968 |
368 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 372 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323112733 CA351577084 |
373 | M>I | No |
ClinGen gnomAD |
|
|
CA2272808 rs766957017 |
373 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA351577098 rs1372023028 |
375 | S>G | No |
ClinGen gnomAD |
|
|
CA351577137 rs1442751407 |
377 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 381 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753553674 CA2272812 COSM1039905 |
383 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1208748445 CA351577233 |
384 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1559306570 CA351577231 |
384 | H>Y | No |
ClinGen Ensembl |
|
|
CA2272814 rs779271429 |
385 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA351577265 rs1327098642 |
387 | C>R | No |
ClinGen TOPMed |
|
|
rs746019967 CA2272815 |
388 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1215881987 CA351577323 |
391 | S>F | No |
ClinGen gnomAD |
|
|
CA351577326 rs1246558115 |
392 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2272820 rs777116338 |
398 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1162766578 CA351577391 |
398 | M>V | No |
ClinGen gnomAD |
|
|
rs1177831538 CA351577485 |
405 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 406 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351577537 rs1421977341 |
410 | L>V | No |
ClinGen TOPMed |
|
|
rs775122322 CA2272847 |
416 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA70574454 rs376324529 |
420 | R>Q | No |
ClinGen ESP gnomAD |
|
|
CA70574439 rs866000325 |
420 | R>W | No |
ClinGen Ensembl |
|
|
rs768143871 CA2272849 |
421 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs776445143 CA2272850 |
426 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA351578072 rs1295199902 |
428 | T>A | No |
ClinGen TOPMed |
|
|
CA70574461 rs943423768 |
428 | T>N | No |
ClinGen TOPMed |
|
|
CA351578070 rs1295199902 |
428 | T>P | No |
ClinGen TOPMed |
|
|
CA351578076 rs943423768 |
428 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 435 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70574473 rs76148824 |
441 | S>P | No |
ClinGen Ensembl |
|
|
CA351578206 rs1575037204 |
442 | T>P | No |
ClinGen Ensembl |
|
|
CA351578243 rs1575037235 |
446 | A>S | No |
ClinGen Ensembl |
|
|
rs1329692070 CA351578249 |
446 | A>V | No |
ClinGen gnomAD |
|
|
rs766509549 CA2272855 |
447 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1350688119 CA351578294 |
449 | N>S | No |
ClinGen gnomAD |
|
|
rs1426044892 CA351578299 |
450 | H>Y | No |
ClinGen TOPMed |
|
|
rs751740291 CA2272856 |
453 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755030252 CA2272857 |
455 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA351579023 rs1339838033 |
459 | K>E | No |
ClinGen TOPMed |
|
|
rs1185840033 CA351579045 |
461 | S>A | No |
ClinGen gnomAD |
|
|
CA2272867 rs768072815 |
462 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776163120 CA2272868 |
464 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70576453 rs960901725 |
464 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs769828939 CA2272870 |
465 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 469 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762848897 CA2272872 |
472 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA351579196 rs1288747314 |
474 | K>N | No |
ClinGen gnomAD |
|
|
CA351579226 rs1465311025 |
477 | E>* | No |
ClinGen TOPMed |
|
|
rs1334333168 CA351579264 |
480 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172945590 CA351579282 |
482 | M>L | No |
ClinGen TOPMed |
|
|
CA2272875 rs759765096 COSM1582563 |
483 | A>V | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1214850103 CA351579326 |
486 | D>H | No |
ClinGen gnomAD |
|
|
CA2272877 rs752754031 COSM3660258 |
487 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1486815827 CA351579386 |
491 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 502 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754275673 CA351579511 |
503 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754275673 CA2272880 |
503 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754275673 CA2272881 |
503 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2272946 rs747270848 |
505 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351579891 rs1271841632 |
506 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1436785919 CA351579928 |
509 | T>I | No |
ClinGen gnomAD |
|
|
rs1436785919 CA351579922 |
509 | T>S | No |
ClinGen gnomAD |
|
|
rs1281329706 CA351579961 |
512 | S>N | No |
ClinGen TOPMed |
|
|
rs776628569 CA2272949 |
512 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA351580016 rs1559311675 |
515 | E>D | No |
ClinGen Ensembl |
|
|
rs1434470569 CA351580111 |
522 | Q>H | No |
ClinGen TOPMed |
|
|
CA2272950 rs150377665 |
523 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs2230444 CA70577261 |
526 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455074653 CA351580167 |
527 | D>E | No |
ClinGen gnomAD |
|
|
rs1422880797 CA351580172 |
528 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA70577276 rs996045173 |
532 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1409504186 CA351580232 |
532 | T>I | No |
ClinGen gnomAD |
|
|
CA351580246 rs1575044579 |
533 | Y>* | No |
ClinGen Ensembl |
|
|
CA351580290 rs1438353072 |
537 | T>I | No |
ClinGen gnomAD |
|
|
rs1194587424 CA351568302 |
543 | I>T | No |
ClinGen gnomAD |
|
|
rs761331134 CA2272980 |
545 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA351568335 rs761331134 |
545 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2272981 rs764841922 |
546 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA351568416 rs1559314810 |
548 | P>L | No |
ClinGen Ensembl |
|
|
rs866520728 CA70554709 |
548 | P>S | No |
ClinGen gnomAD |
|
|
CA2272985 rs751428558 |
553 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351568521 rs1477134624 |
554 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs754779100 CA2272986 |
557 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774343392 | 563 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351568746 rs1293485622 |
564 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 565 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 567 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2272991 rs148719288 |
569 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749376188 CA351569397 |
579 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1173788324 CA351569413 |
582 | M>V | No |
ClinGen Ensembl |
|
|
CA351569447 rs1195243557 |
586 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 588 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2272996 rs772516610 |
589 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs775685374 CA2272997 |
590 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775685374 CA351569470 |
590 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180014233 CA351569483 |
591 | I>M | No |
ClinGen gnomAD |
|
|
CA351569482 rs1575052545 |
591 | I>T | No |
ClinGen Ensembl |
|
|
rs1575052562 CA351569484 |
592 | T>P | No |
ClinGen Ensembl |
|
|
rs112640832 CA70554767 |
593 | G>E | No |
ClinGen TOPMed |
|
|
rs1559315010 CA351569490 |
593 | G>R | No |
ClinGen Ensembl |
|
|
CA70554771 rs1042123 |
594 | A>V | No |
ClinGen Ensembl |
|
|
rs764779990 CA2272999 |
595 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 597 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P49116
2 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. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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 | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| 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. |
| nuclear receptor activity | A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. |
| 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. |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
| sequence-specific DNA binding | Binding to 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. |
| 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. |
| zinc ion binding | Binding to a zinc ion (Zn). |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| anatomical structure development | The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| 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. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| positive regulation of embryonic development | Any process that activates or increases the frequency, rate or extent of embryonic development. |
| 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 DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9TTR7 | NR2F2 | COUP transcription factor 2 | Bos taurus (Bovine) | PR |
| O18971 | PPARG | Peroxisome proliferator-activated receptor gamma | Bos taurus (Bovine) | PR |
| Q90733 | NR2F2 | COUP transcription factor 2 | Gallus gallus (Chicken) | PR |
| P68306 | THRB | Thyroid hormone receptor beta | Gallus gallus (Chicken) | PR |
| A7X8B3 | PGR | Progesterone receptor | Pan troglodytes (Chimpanzee) | SS |
| P37231 | PPARG | Peroxisome proliferator-activated receptor gamma | Homo sapiens (Human) | PR |
| P06401 | PGR | Progesterone receptor | Homo sapiens (Human) | EV |
| O75469 | NR1I2 | Nuclear receptor subfamily 1 group I member 2 | Homo sapiens (Human) | PR |
| P24468 | NR2F2 | COUP transcription factor 2 | Homo sapiens (Human) | PR |
| P10588 | NR2F6 | Nuclear receptor subfamily 2 group F member 6 | Homo sapiens (Human) | PR |
| P10589 | NR2F1 | COUP transcription factor 1 | Homo sapiens (Human) | PR |
| P41235 | HNF4A | Hepatocyte nuclear factor 4-alpha | Homo sapiens (Human) | PR |
| P35396 | Ppard | Peroxisome proliferator-activated receptor delta | Mus musculus (Mouse) | PR |
| P43136 | Nr2f6 | Nuclear receptor subfamily 2 group F member 6 | Mus musculus (Mouse) | PR |
| P43135 | Nr2f2 | COUP transcription factor 2 | Mus musculus (Mouse) | PR |
| Q00175 | Pgr | Progesterone receptor | Mus musculus (Mouse) | SS |
| Q9Z0Y9 | Nr1h3 | Oxysterols receptor LXR-alpha | Mus musculus (Mouse) | PR |
| O62807 | PPARG | Peroxisome proliferator-activated receptor gamma | Sus scrofa (Pig) | PR |
| O09018 | Nr2f2 | COUP transcription factor 2 | Rattus norvegicus (Rat) | PR |
| Q63449 | Pgr | Progesterone receptor | Rattus norvegicus (Rat) | SS |
| Q8SQ01 | NR1I2 | Nuclear receptor subfamily 1 group I member 2 | Macaca mulatta (Rhesus macaque) | PR |
| G5EFF5 | daf-12 | Nuclear hormone receptor family member daf-12 | Caenorhabditis elegans | PR |
| O45460 | nhr-54 | Nuclear hormone receptor family member nhr-54 | Caenorhabditis elegans | PR |
| Q20765 | nhr-7 | Nuclear hormone receptor family member nhr-7 | Caenorhabditis elegans | PR |
| Q21006 | nhr-34 | Nuclear hormone receptor family member nhr-34 | Caenorhabditis elegans | PR |
| O17928 | nhr-52 | Nuclear hormone receptor family member nhr-52 | Caenorhabditis elegans | PR |
| Q21878 | nhr-1 | Nuclear hormone receptor family member nhr-1 | Caenorhabditis elegans | PR |
| O18141 | nhr-79 | Nuclear hormone receptor family member nhr-79 | Caenorhabditis elegans | PR |
| Q6PH18 | nr2f1b | Nuclear receptor subfamily 2 group F member 1-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSPSPRIQI | ISTDSAVASP | QRIQIVTDQQ | TGQKIQIVTA | VDASGSPKQQ | FILTSPDGAG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TGKVILASPE | TSSAKQLIFT | TSDNLVPGRI | QIVTDSASVE | RLLGKTDVQR | PQVVEYCVVC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GDKASGRHYG | AVSCEGCKGF | FKRSVRKNLT | YSCRSNQDCI | INKHHRNRCQ | FCRLKKCLEM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GMKMESVQSE | RKPFDVQREK | PSNCAASTEK | IYIRKDLRSP | LIATPTFVAD | KDGARQTGLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DPGMLVNIQQ | PLIREDGTVL | LATDSKAETS | QGALGTLANV | VTSLANLSES | LNNGDTSEIQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PEDQSASEIT | RAFDTLAKAL | NTTDSSSSPS | LADGIDTSGG | GSIHVISRDQ | STPIIEVEGP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLSDTHVTFK | LTMPSPMPEY | LNVHYICESA | SRLLFLSMHW | ARSIPAFQAL | GQDCNTSLVR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ACWNELFTLG | LAQCAQVMSL | STILAAIVNH | LQNSIQEDKL | SGDRIKQVME | HIWKLQEFCN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SMAKLDIDGY | EYAYLKAIVL | FSPDHPGLTS | TSQIEKFQEK | AQMELQDYVQ | KTYSEDTYRL |
| 550 | 560 | 570 | 580 | 590 | |
| ARILVRLPAL | RLMSSNITEE | LFFTGLIGNV | SIDSIIPYIL | KMETAEYNGQ | ITGASL |