Q14995
PR
Gene name |
NR1D2 |
Protein name |
Nuclear receptor subfamily 1 group D member 2 |
Names |
Orphan nuclear hormone receptor BD73, Rev-erb alpha-related receptor, RVR, Rev-erb-beta, V-erbA-related protein 1-related, EAR-1R |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9975 |
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
7 structures for Q14995
461 variants for Q14995
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1358487339 RCV000851272 CA351883075 |
175 | R>W | Variant assessed as Somatic; 0.0 impact. Atrioventricular septal defect [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA351884568 rs1291370373 |
2 | E>* | No |
ClinGen gnomAD |
|
|
CA351884586 rs1290625770 |
3 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 3 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351884579 rs1403505682 |
3 | V>M | No |
ClinGen TOPMed |
|
|
rs1404675521 CA351884603 |
5 | A>S | No |
ClinGen gnomAD |
|
|
CA351884612 rs1326251626 |
6 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 7 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2286618 rs761796957 |
8 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs765229699 CA2286619 |
10 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750368358 CA2286620 |
11 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1164683528 CA351880380 |
12 | I>M | No |
ClinGen gnomAD |
|
|
CA351880381 rs1400819432 |
13 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1367866633 CA351880384 |
13 | S>N | No |
ClinGen gnomAD |
|
|
rs1400819432 CA351880383 |
13 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1362563719 CA351880390 |
14 | S>P | No |
ClinGen TOPMed |
|
|
CA351880399 rs1290579087 |
15 | S>F | No |
ClinGen TOPMed |
|
|
rs1346281504 CA351880420 |
18 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754632595 CA2286625 |
19 | S>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 20 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_047377 rs17854365 CA71578239 |
21 | P>H | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA351880450 rs1165869777 |
23 | S>F | No |
ClinGen TOPMed |
|
|
rs781604032 CA351880463 |
25 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286626 rs781604032 |
25 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351880461 rs1382376175 |
25 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs753065853 CA2286627 |
28 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351880491 rs1204276093 |
29 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 30 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559331022 CA351880521 |
33 | F>C | No |
ClinGen Ensembl |
|
|
rs563905774 CA2286628 |
33 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs976099541 CA71578249 |
33 | F>L | No |
ClinGen Ensembl |
|
|
rs923283545 CA71578263 |
36 | S>C | No |
ClinGen Ensembl |
|
|
rs1484583579 CA351880546 |
37 | S>C | No |
ClinGen TOPMed |
|
|
rs1440274415 CA351880553 |
38 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA71578289 rs931994383 |
42 | S>P | No |
ClinGen Ensembl |
|
|
rs776481412 CA2286636 |
44 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs528383367 CA351880588 |
45 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 45 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528383367 CA2286637 |
45 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769593623 CA2286638 |
46 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2286639 rs773086538 |
50 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286640 rs762916242 |
51 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286641 rs765849666 |
52 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA351880648 rs1374109468 |
54 | N>D | No |
ClinGen gnomAD |
|
|
rs1453416969 CA351880651 |
54 | N>S | No |
ClinGen gnomAD |
|
|
rs986826852 CA71578308 |
55 | P>S | No |
ClinGen gnomAD |
|
|
CA351880665 rs1261763360 |
56 | K>N | No |
ClinGen gnomAD |
|
|
CA2286642 rs751084374 |
56 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs143811972 CA2286643 |
58 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767011386 CA2286644 |
59 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs201515529 CA351880687 |
60 | L>I | No |
ClinGen 1000Genomes |
|
|
rs201515529 CA71578320 |
60 | L>V | No |
ClinGen 1000Genomes |
|
|
CA351880692 COSM1259418 rs1204638551 |
61 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2286647 rs568010643 |
62 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1265407184 CA351880700 |
62 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA71578339 rs1036545367 |
65 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs757278641 CA71578336 |
65 | G>R | No |
ClinGen gnomAD |
|
|
rs757278641 CA351880720 |
65 | G>S | No |
ClinGen gnomAD |
|
|
rs906489074 CA351880725 |
66 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs906489074 CA71578345 |
66 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764920839 CA351880761 |
71 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA71578351 rs764920839 |
71 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs746002238 CA2286651 |
71 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351880770 rs1559331119 |
72 | I>M | No |
ClinGen Ensembl |
|
|
rs780084653 CA2286653 COSM1217768 |
73 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs747281208 CA2286654 |
74 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286655 rs769541377 |
75 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351880789 rs769541377 |
75 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773037418 CA2286656 |
76 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286657 rs762861304 |
77 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA71578373 rs956649146 |
78 | T>R | No |
ClinGen TOPMed |
|
|
rs774345944 CA2286659 |
79 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs758912664 CA351880829 |
81 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758912664 CA2286660 |
81 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278106046 CA351880833 |
82 | S>N | No |
ClinGen Ensembl |
|
|
CA351880843 rs1469250857 |
83 | A>V | No |
ClinGen gnomAD |
|
|
rs752250438 CA2286662 |
84 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286661 rs767076379 |
84 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1480810112 CA351880854 |
85 | G>V | No |
ClinGen TOPMed |
|
|
CA351880871 rs1252834948 |
88 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 89 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71578388 rs1022465161 |
94 | T>A | No |
ClinGen TOPMed |
|
|
rs1224886287 CA351880917 |
94 | T>R | No |
ClinGen gnomAD |
|
|
CA351880992 rs1297091195 |
96 | F>I | No |
ClinGen gnomAD |
|
|
rs912196247 CA71579032 |
98 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs776378040 CA2286704 |
99 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2286703 rs776378040 |
99 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA351881088 rs1575149226 |
102 | L>P | No |
ClinGen Ensembl |
|
|
rs1205849812 CA351881188 |
109 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA71579074 rs1033112737 |
113 | F>S | No |
ClinGen Ensembl |
|
|
CA2286711 rs767615071 |
115 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477875302 CA351881271 |
115 | Y>H | No |
ClinGen TOPMed |
|
|
rs930792529 CA71579088 |
118 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351881332 rs1431883490 |
119 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351881336 rs1431883490 |
119 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs61732085 CA2286714 |
120 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439582674 CA351881926 |
128 | R>Q | No |
ClinGen gnomAD |
|
|
rs771303861 CA2286728 |
131 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA71580765 rs75353302 |
132 | Q>K | No |
ClinGen Ensembl |
|
|
rs774798750 CA2286730 |
132 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs78361312 CA71580772 |
133 | Q>K | No |
ClinGen Ensembl |
|
|
rs1290803840 CA351882050 |
134 | N>S | No |
ClinGen gnomAD |
|
|
CA351882064 rs1287811989 |
135 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 136 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351882120 rs1223053918 |
137 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2286732 rs767560036 |
137 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA351882105 rs1237735455 |
137 | Y>N | No |
ClinGen TOPMed |
|
|
rs1230001922 CA351882127 |
138 | K>E | No |
ClinGen TOPMed |
|
|
CA351882134 rs1263817134 |
138 | K>R | No |
ClinGen gnomAD |
|
|
CA2286733 rs752831656 |
139 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2286734 rs760805297 |
141 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs148928938 CA2286735 |
148 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1035941370 CA71580785 |
149 | M>K | No |
ClinGen TOPMed |
|
|
CA2286737 rs758164166 |
156 | C>W | No |
ClinGen ExAC |
|
|
rs895414411 CA71580791 |
158 | Q>H | No |
ClinGen gnomAD |
|
|
rs536818716 CA2286739 |
162 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351882671 rs1430788250 |
164 | C>W | No |
ClinGen gnomAD |
|
|
CA351882704 rs1422642779 |
167 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 171 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351882816 rs1354727091 |
172 | D>G | No |
ClinGen gnomAD |
|
|
rs1575153513 CA351883084 |
176 | F>C | No |
ClinGen Ensembl |
|
|
CA2286763 rs755606244 |
178 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA351883095 rs1291984456 COSM240921 |
178 | R>H | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA351883121 rs1445203947 |
182 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2286764 rs777187217 |
182 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748948575 CA2286765 |
186 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1465806931 CA351883158 |
187 | M>T | No |
ClinGen gnomAD |
|
|
CA2286766 rs756958889 |
189 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA71581928 rs1026401912 |
193 | S>N | No |
ClinGen TOPMed |
|
|
rs1026401912 CA351883202 |
193 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 195 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351883213 rs200434367 |
195 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286767 rs200434367 |
195 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444460954 CA351883222 |
196 | K>E | No |
ClinGen gnomAD |
|
|
CA71581956 rs866258815 |
197 | T>N | No |
ClinGen Ensembl |
|
|
rs1416677796 CA351883233 |
198 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs74718912 CA71581973 |
200 | N>T | No |
ClinGen Ensembl |
|
|
CA351883263 rs1397599476 |
201 | S>I | No |
ClinGen TOPMed |
|
|
rs1399454442 CA351883280 |
203 | F>L | No |
ClinGen gnomAD |
|
|
rs776017694 CA2286770 |
204 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs776017694 CA351883286 |
204 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2286771 rs61732087 |
205 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768754844 CA2286772 |
206 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776628424 CA2286773 |
208 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776628424 CA2286774 |
208 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286775 rs765625240 |
211 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs773579776 CA2286776 |
212 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1328560955 CA351883336 |
212 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351883351 rs1312386528 |
214 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs61732090 CA2286777 |
214 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1218851186 CA351883356 |
215 | H>Y | No |
ClinGen TOPMed |
|
|
CA2286778 rs571069391 |
216 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351883366 rs1284817945 |
216 | H>L | No |
ClinGen gnomAD |
|
|
rs756054701 CA2286780 |
218 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351883384 rs1246019849 |
219 | T>P | No |
ClinGen gnomAD |
|
|
CA71582027 rs763645387 |
220 | A>P | No |
ClinGen ExAC |
|
|
CA2286781 rs763645387 |
220 | A>T | No |
ClinGen ExAC |
|
|
CA351883408 rs1242191391 |
223 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 224 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71582033 rs917930141 |
224 | Q>R | No |
ClinGen TOPMed |
|
|
rs1188756301 CA351883421 |
225 | E>Q | No |
ClinGen gnomAD |
|
|
CA351883435 rs1468868760 |
226 | Q>H | No |
ClinGen gnomAD |
|
|
CA351883428 rs1239598191 |
226 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2286783 rs776271878 |
230 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286785 rs139583758 |
232 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351883474 rs1453671221 |
233 | L>R | No |
ClinGen gnomAD |
|
|
CA2286787 rs568438389 |
233 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2286788 rs747530425 |
234 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71582060 rs910347769 |
236 | E>G | No |
ClinGen gnomAD |
|
|
CA2286790 rs535714091 |
237 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM308411 rs769105221 CA2286789 |
237 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs189537894 CA71582064 |
238 | I>N | No |
ClinGen 1000Genomes |
|
|
rs748177713 CA2286791 |
238 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770012545 CA2286793 |
241 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770012545 CA2286792 COSM1309008 |
241 | S>F | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA351883526 rs1261955716 |
241 | S>P | No |
ClinGen gnomAD |
|
|
CA2286795 rs761524333 |
242 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771877196 CA2286796 |
243 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286798 rs760656412 |
244 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763870401 CA2286799 |
245 | S>C | No |
ClinGen ExAC TOPMed |
|
|
rs929311772 CA71582095 |
245 | S>P | No |
ClinGen Ensembl |
|
|
rs929311772 CA351883544 |
245 | S>T | No |
ClinGen Ensembl |
|
|
CA351883549 rs1473849495 |
246 | S>P | No |
ClinGen gnomAD |
|
|
CA71582099 rs201106205 |
247 | D>H | No |
ClinGen 1000Genomes |
|
|
CA351883558 rs1197821021 |
247 | D>V | No |
ClinGen gnomAD |
|
|
rs1428688115 CA351883566 |
248 | F>C | No |
ClinGen gnomAD |
|
|
CA2286800 rs753788188 |
249 | A>V | No |
ClinGen ExAC |
|
|
rs1477430054 CA351883575 |
250 | K>E | No |
ClinGen TOPMed |
|
|
rs150181107 CA2286801 |
250 | K>M | No |
ClinGen ESP ExAC TOPMed |
|
|
CA351883588 rs1575153745 |
251 | E>D | No |
ClinGen Ensembl |
|
|
CA351883586 rs1394576380 |
251 | E>V | No |
ClinGen gnomAD |
|
|
CA2286803 rs750047098 |
254 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2286805 rs780455850 |
256 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA71582135 rs896090852 |
261 | H>D | No |
ClinGen Ensembl |
|
|
rs1282488847 CA351883659 |
262 | K>R | No |
ClinGen gnomAD |
|
|
rs1273670143 CA351883672 |
264 | T>S | No |
ClinGen TOPMed |
|
|
CA2286808 rs372692303 |
267 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338334792 COSM22036 CA351883717 |
270 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1167235828 CA351883726 |
271 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1275814319 CA351883732 |
271 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 272 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148998610 CA2286809 |
273 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290437122 CA351883777 |
278 | S>G | No |
ClinGen TOPMed |
|
|
CA2286810 rs369397783 |
278 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs906035078 CA71582158 |
279 | M>L | No |
ClinGen Ensembl |
|
|
CA351883800 rs778047123 |
281 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286811 rs778047123 |
281 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351883805 rs17857305 |
282 | Q>E | No |
ClinGen TOPMed |
|
|
rs573027949 CA2286814 |
282 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA71582174 VAR_047378 rs17857305 |
282 | Q>K | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA2286813 rs771124740 |
282 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138439779 CA2286815 |
285 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776512747 CA351883830 |
286 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286817 rs776512747 |
286 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768518229 CA2286816 |
286 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71582190 rs17857306 VAR_047379 |
288 | P>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA351883845 rs1302502011 |
289 | K>E | No |
ClinGen gnomAD |
|
|
COSM173081 TCGA novel CA351883849 rs1388074523 |
289 | K>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated gnomAD NCI-TCGA |
|
CA2286818 rs761780144 |
289 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs145982303 CA71582198 |
290 | N>S | No |
ClinGen ESP |
|
|
rs1471421176 CA351883859 |
291 | M>V | No |
ClinGen TOPMed |
|
|
CA351883879 rs1325291864 |
293 | Q>R | No |
ClinGen gnomAD |
|
|
CA2286819 rs373097979 |
295 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375264865 CA2286820 |
295 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369187169 CA2286821 |
297 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141150782 CA2286822 |
298 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150707682 CA71582270 |
299 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1489091444 CA351883920 |
299 | D>H | No |
ClinGen gnomAD |
|
|
rs150707682 CA351883922 |
299 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA351883928 rs1226747043 |
300 | H>R | No |
ClinGen TOPMed |
|
|
rs952227582 CA71582295 |
300 | H>Y | No |
ClinGen TOPMed |
|
|
rs373795100 CA351883937 |
301 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2286825 rs149949793 |
301 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2286828 rs777993119 |
302 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286827 rs756741057 |
302 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140541857 CA351883947 |
303 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140541857 COSM26605 CA2286830 |
303 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1575153915 CA351883968 |
306 | S>R | No |
ClinGen Ensembl |
|
|
CA351883976 rs1383656999 |
307 | S>R | No |
ClinGen gnomAD |
|
|
CA2286831 rs778955450 |
308 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322192978 CA351883995 |
310 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312440932 CA351884021 |
313 | E>D | No |
ClinGen gnomAD |
|
|
rs1322640098 CA351884041 |
316 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559334525 CA351884062 |
319 | N>D | No |
ClinGen Ensembl |
|
|
CA2286834 rs776460895 |
319 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2286835 rs182611259 |
320 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351884077 rs1209417881 |
321 | Q>R | No |
ClinGen gnomAD |
|
|
CA71582337 rs200679135 |
322 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1460136777 CA351884091 |
323 | K>I | No |
ClinGen gnomAD |
|
| TCGA novel | 324 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773141753 CA2286838 |
325 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71582352 rs920703527 |
326 | N>T | No |
ClinGen Ensembl |
|
|
rs762316335 CA2286839 |
328 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1156877296 CA351884126 |
328 | M>T | No |
ClinGen gnomAD |
|
|
rs1457356204 CA351884137 |
329 | H>Q | No |
ClinGen gnomAD |
|
|
rs1559334553 CA351884134 |
329 | H>R | No |
ClinGen Ensembl |
|
|
CA351884148 rs1559334568 |
331 | P>S | No |
ClinGen Ensembl |
|
|
CA2286841 rs145096935 |
332 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2286842 rs773840081 |
333 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773840081 CA351884163 |
333 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71582369 rs751899508 |
334 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2286843 rs759279147 |
336 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2286844 rs150492655 |
337 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA71582395 rs539071549 |
338 | I>S | No |
ClinGen Ensembl |
|
|
rs753177677 CA2286845 |
338 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2286846 rs756551090 COSM162979 |
339 | A>T | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1350400668 CA351884200 |
340 | N>H | No |
ClinGen gnomAD |
|
|
CA71582416 rs950338950 |
340 | N>S | No |
ClinGen TOPMed |
|
|
rs545125675 CA2286847 |
342 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1266246441 CA351884214 |
342 | H>Y | No |
ClinGen TOPMed |
|
|
CA351884229 rs1270099529 |
344 | M>L | No |
ClinGen gnomAD |
|
|
CA351884257 rs754392809 |
347 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286848 rs754392809 |
347 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286849 rs757244330 |
348 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2286850 rs779091271 |
349 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs868736825 CA71582430 |
350 | Y>C | No |
ClinGen Ensembl |
|
|
CA71582452 rs1044627649 |
352 | Q>R | No |
ClinGen Ensembl |
|
|
rs1575154096 CA351884290 |
353 | R>G | No |
ClinGen Ensembl |
|
|
rs138475457 CA351884311 |
356 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2286852 rs138475457 |
356 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468785782 CA351884318 |
357 | R>G | No |
ClinGen gnomAD |
|
|
rs747875621 CA2286854 |
357 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769593735 CA2286855 |
358 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs559972702 CA2286856 |
359 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371437504 CA2286859 |
360 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770323164 CA2286858 |
360 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2286860 rs759105289 |
361 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2286861 rs527354526 |
362 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2286862 rs775295320 |
365 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1302304374 CA351884378 |
366 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 371 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351884425 rs1202265085 |
372 | Y>F | No |
ClinGen gnomAD |
|
|
rs1207234972 CA351884436 |
374 | C>Y | No |
ClinGen gnomAD |
|
|
rs757833189 CA2286866 |
375 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1479845447 CA351884449 |
376 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 378 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2286867 rs765220025 |
379 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2286868 rs750586856 |
381 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426919313 CA351884483 |
381 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1169242251 CA351884492 |
382 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM4149823 rs375583060 CA2286930 |
384 | C>F | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2286931 rs375583060 |
384 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219056431 CA351884523 |
385 | P>R | No |
ClinGen TOPMed |
|
|
rs4858097 CA351884524 VAR_047380 CA71584468 |
386 | M>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2286933 rs780611019 |
386 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs4858097 CA351884525 |
386 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747819732 CA2286934 |
387 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA71584491 rs997544680 |
388 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs755786255 CA2286935 |
389 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755786255 CA351884550 |
389 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1377352582 CA351884584 |
392 | V>M | No |
ClinGen gnomAD |
|
|
rs749593798 CA2286937 |
393 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351884621 rs1388113640 |
394 | P>L | No |
ClinGen gnomAD |
|
|
CA2286938 rs771305840 |
395 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452958627 CA351884653 |
398 | G>E | No |
ClinGen TOPMed |
|
|
rs888641099 CA71584522 |
399 | H>L | No |
ClinGen TOPMed |
|
|
rs1407899924 CA351884658 |
399 | H>N | No |
ClinGen TOPMed |
|
|
CA351884660 rs888641099 |
399 | H>R | No |
ClinGen TOPMed |
|
|
rs1384626966 CA351884716 COSM276383 |
406 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM3823583 CA71584534 rs368873193 |
407 | M>I | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1237679075 CA351884721 |
407 | M>T | No |
ClinGen TOPMed |
|
|
rs1184331321 CA351884742 |
410 | T>A | No |
ClinGen TOPMed |
|
|
CA351884744 rs1559335637 |
410 | T>N | No |
ClinGen Ensembl |
|
|
CA351884769 rs1331108245 |
414 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 415 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351884793 rs1209847940 |
418 | E>K | No |
ClinGen TOPMed |
|
|
CA71584544 rs868005632 |
420 | A>E | No |
ClinGen Ensembl |
|
|
CA351884824 rs1489769695 |
422 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs746401135 CA2286940 |
422 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351884835 rs1185339229 |
424 | P>A | No |
ClinGen gnomAD |
|
|
CA351884854 rs1307862934 |
427 | R>G | No |
ClinGen TOPMed |
|
|
rs558606668 CA2286943 |
427 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1276050371 CA351884869 |
429 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351884881 rs1344932790 |
431 | Q>* | No |
ClinGen gnomAD |
|
|
rs370624336 CA2286944 |
432 | H>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351884890 rs1208506765 |
432 | H>Y | No |
ClinGen gnomAD |
|
|
rs777009620 CA2286945 |
433 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575155817 CA351884906 |
434 | Q>R | No |
ClinGen Ensembl |
|
|
rs578131251 CA2286946 |
436 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs578131251 CA351884919 |
436 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2286948 rs751515943 |
439 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1345580608 CA351884967 |
443 | F>L | No |
ClinGen TOPMed |
|
|
rs1559336713 CA351884991 |
445 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 446 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA71586736 rs1046103307 |
447 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351885004 rs1046103307 |
447 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1286536193 CA351885014 |
448 | V>L | No |
ClinGen gnomAD |
|
|
rs753511124 CA2286973 |
449 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539276046 CA351885019 |
449 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756845985 CA2286974 |
450 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78292562 CA2286975 COSM183601 |
451 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 452 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2286977 rs149806445 |
453 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2286978 rs780472010 |
455 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs61755049 CA2286980 |
457 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 458 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781368436 CA2286981 |
459 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2286982 rs748390280 |
459 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770211929 CA2286983 |
460 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351885091 rs1304511312 |
460 | T>I | No |
ClinGen TOPMed |
|
|
rs1369184906 CA351885117 |
464 | L>F | No |
ClinGen TOPMed |
|
|
CA351885115 rs1417174062 |
464 | L>S | No |
ClinGen gnomAD |
|
|
CA2286986 rs771871256 |
465 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141382184 CA351885139 |
467 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351885142 rs1559336776 |
468 | K>* | No |
ClinGen Ensembl |
|
|
rs1009408045 CA71586863 |
468 | K>I | No |
ClinGen Ensembl |
|
|
CA2286990 rs776052170 |
470 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351885158 rs761307666 |
470 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs761307666 CA2286991 |
470 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1256380844 CA351885165 |
471 | V>A | No |
ClinGen gnomAD |
|
|
CA2286993 rs145116056 |
475 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2286994 rs758727574 |
477 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs766722837 CA351885215 |
478 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 478 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766722837 CA2286995 |
478 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 484 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2286997 rs150332369 |
484 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781764499 CA2286998 |
485 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA351885257 rs781764499 |
485 | S>F | No |
ClinGen ExAC gnomAD |
|
|
COSM3720433 rs748300174 CA2286999 |
486 | M>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2287001 rs777900202 |
490 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2287002 rs749487940 |
491 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2287003 rs771786856 |
492 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs775298376 CA2287005 |
493 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351885328 rs1202502164 |
495 | A>V | No |
ClinGen TOPMed |
|
|
rs1365509235 CA351885337 |
497 | Q>* | No |
ClinGen gnomAD |
|
|
rs768646319 CA2287006 |
499 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA351885362 rs1386445500 |
500 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA351885375 rs1236711509 |
502 | E>V | No |
ClinGen TOPMed |
|
|
CA2287009 rs369583351 |
503 | M>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2287008 rs761360711 |
503 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA2287010 rs772768776 |
504 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2287011 rs373223481 |
504 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2287012 rs766662901 |
504 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2287013 rs752041335 |
507 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1244486652 CA351885418 |
509 | V>I | No |
ClinGen gnomAD |
|
|
rs149470066 CA71587104 |
510 | V>I | No |
ClinGen ESP TOPMed |
|
|
rs1191440665 CA351885436 |
512 | V>L | No |
ClinGen gnomAD |
|
|
rs1247822160 CA351885468 |
515 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 515 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452152831 CA351885473 |
516 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1475923306 COSM1422166 CA351885474 |
516 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA351885479 rs1188844593 |
517 | S>T | No |
ClinGen gnomAD |
|
|
CA71594428 rs925779875 |
521 | N>T | No |
ClinGen Ensembl |
|
|
CA2287029 rs769207208 |
522 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA351885517 rs1404896585 |
523 | N>D | No |
ClinGen gnomAD |
|
|
CA2287030 rs772716952 |
523 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1404896585 CA351885518 |
523 | N>Y | No |
ClinGen gnomAD |
|
|
rs762512892 CA2287031 |
525 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs770679428 CA2287032 |
526 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351885553 rs1559339795 |
528 | L>F | No |
ClinGen Ensembl |
|
|
CA2287033 rs774129129 |
529 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 530 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377444226 CA71594470 |
534 | R>C | No |
ClinGen ESP TOPMed |
|
|
rs753281759 CA2287036 |
534 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs377444226 CA71594459 |
534 | R>S | No |
ClinGen ESP TOPMed |
|
|
rs1392255987 CA351885592 |
535 | A>T | No |
ClinGen TOPMed |
|
|
CA351885604 rs1378346885 |
537 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 537 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142863637 CA2287040 |
538 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2287039 rs142863637 |
538 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371207296 CA2287038 |
538 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779153930 CA2287042 |
540 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1268338050 CA351885626 |
541 | M>V | No |
ClinGen gnomAD |
|
|
CA2287044 rs750610973 |
544 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs750610973 CA2287045 |
544 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351885667 rs1288911241 |
546 | N>I | No |
ClinGen TOPMed |
|
|
rs780912474 CA2287046 |
547 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA71594552 rs1050176285 |
547 | E>G | No |
ClinGen gnomAD |
|
|
rs748881416 CA2287050 |
550 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2287049 rs148465035 |
550 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351885704 rs1402300953 |
552 | T>R | No |
ClinGen gnomAD |
|
|
rs770319291 CA2287051 |
554 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 557 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351885748 rs759217409 |
559 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2287053 rs759217409 |
559 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351885747 rs1348131048 |
559 | P>S | No |
ClinGen gnomAD |
|
|
CA351885755 rs1406639429 |
560 | D>V | No |
ClinGen TOPMed |
|
|
CA351885765 COSM446307 rs1352385412 |
562 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2287055 rs775931055 |
562 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777275165 CA71594590 |
565 | N>S | No |
ClinGen Ensembl |
|
|
rs1276963161 CA351885792 |
566 | N>S | No |
ClinGen gnomAD |
|
|
CA351885805 rs1473459372 |
568 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 570 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351885834 rs1442151473 |
571 | E>D | No |
ClinGen gnomAD |
|
|
rs1260189312 CA351885843 |
573 | L>* | No |
ClinGen gnomAD |
|
|
rs1407105444 CA351885847 |
573 | L>F | No |
ClinGen gnomAD |
|
|
rs1430496322 CA351885848 |
574 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200401146 CA71594625 |
577 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs200401146 CA2287058 |
577 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA71594640 rs1038599193 |
579 | P>S | No |
ClinGen Ensembl |
No associated diseases with Q14995
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases 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. |
| 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). |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| circadian behavior | The specific behavior of an organism that recurs with a regularity of approximately 24 hours. |
| energy homeostasis | Any process involved in the balance between food intake (energy input) and energy expenditure. |
| hormone-mediated signaling pathway | The series of molecular signals mediated by the detection of a hormone. |
| lipid homeostasis | Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. |
| 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 inflammatory response | Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. |
| 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. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| 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 circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of inflammatory response | Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. |
| regulation of lipid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. |
| regulation of skeletal muscle cell differentiation | Any process that modulates the frequency, rate or extent of skeletal muscle cell differentiation. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O75469 | NR1I2 | Nuclear receptor subfamily 1 group I member 2 | Homo sapiens (Human) | PR |
| P37231 | PPARG | Peroxisome proliferator-activated receptor gamma | Homo sapiens (Human) | PR |
| Q63504 | Nr1d2 | Nuclear receptor subfamily 1 group D member 2 | Rattus norvegicus (Rat) | PR |
| Q20765 | nhr-7 | Nuclear hormone receptor family member nhr-7 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVNAGGVIA | YISSSSSASS | PASCHSEGSE | NSFQSSSSSV | PSSPNSSNSD | TNGNPKNGDL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ANIEGILKND | RIDCSMKTSK | SSAPGMTKSH | SGVTKFSGMV | LLCKVCGDVA | SGFHYGVHAC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EGCKGFFRRS | IQQNIQYKKC | LKNENCSIMR | MNRNRCQQCR | FKKCLSVGMS | RDAVRFGRIP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KREKQRMLIE | MQSAMKTMMN | SQFSGHLQND | TLVEHHEQTA | LPAQEQLRPK | PQLEQENIKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSPPSSDFAK | EEVIGMVTRA | HKDTFMYNQE | QQENSAESMQ | PQRGERIPKN | MEQYNLNHDH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CGNGLSSHFP | CSESQQHLNG | QFKGRNIMHY | PNGHAICIAN | GHCMNFSNAY | TQRVCDRVPI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DGFSQNENKN | SYLCNTGGRM | HLVCPMSKSP | YVDPHKSGHE | IWEEFSMSFT | PAVKEVVEFA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KRIPGFRDLS | QHDQVNLLKA | GTFEVLMVRF | ASLFDAKERT | VTFLSGKKYS | VDDLHSMGAG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DLLNSMFEFS | EKLNALQLSD | EEMSLFTAVV | LVSADRSGIE | NVNSVEALQE | TLIRALRTLI |
| 550 | 560 | 570 | |||
| MKNHPNEASI | FTKLLLKLPD | LRSLNNMHSE | ELLAFKVHP |