O75469
Gene name |
NR1I2 (PXR) |
Protein name |
Nuclear receptor subfamily 1 group I member 2 |
Names |
Orphan nuclear receptor PAR1, Orphan nuclear receptor PXR, Pregnane X receptor, Steroid and xenobiotic receptor, SXR |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8856 |
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

58 structures for O75469
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1ILG | X-ray | 252 A | A | 130-434 | PDB |
1ILH | X-ray | 276 A | A | 130-434 | PDB |
1M13 | X-ray | 215 A | A | 130-434 | PDB |
1NRL | X-ray | 200 A | A/B | 130-434 | PDB |
1SKX | X-ray | 280 A | A | 130-431 | PDB |
2O9I | X-ray | 280 A | A/B | 142-434 | PDB |
2QNV | X-ray | 280 A | A | 130-434 | PDB |
3CTB | X-ray | 200 A | A/B | 130-434 | PDB |
3HVL | X-ray | 210 A | A/B | 130-434 | PDB |
3R8D | X-ray | 280 A | A | 130-434 | PDB |
4J5W | X-ray | 280 A | A/B | 130-434 | PDB |
4J5X | X-ray | 280 A | A/B | 130-434 | PDB |
4NY9 | X-ray | 280 A | A | 142-431 | PDB |
4S0S | X-ray | 280 A | A/B | 130-434 | PDB |
4S0T | X-ray | 314 A | A/B | 130-434 | PDB |
4X1F | X-ray | 200 A | A | 130-434 | PDB |
4X1G | X-ray | 225 A | A | 130-434 | PDB |
4XAO | X-ray | 258 A | A | 130-434 | PDB |
4XHD | X-ray | 240 A | A | 130-434 | PDB |
5A86 | X-ray | 225 A | A/B | 130-432 | PDB |
5X0R | X-ray | 267 A | A/B | 130-434 | PDB |
6BNS | X-ray | 256 A | A/B | 130-434 | PDB |
6DUP | X-ray | 230 A | A/B | 130-426 | PDB |
6HJ2 | X-ray | 228 A | A | 130-434 | PDB |
6HTY | X-ray | 222 A | A/B | 129-434 | PDB |
6NX1 | X-ray | 227 A | A/B | 130-434 | PDB |
6P2B | X-ray | 230 A | A/B | 130-434 | PDB |
6S41 | X-ray | 270 A | A/B | 138-434 | PDB |
6TFI | X-ray | 185 A | A/B | 129-434 | PDB |
6XP9 | X-ray | 227 A | A/B | 130-434 | PDB |
7AX8 | X-ray | 215 A | A | 130-434 | PDB |
7AX9 | X-ray | 225 A | A | 130-434 | PDB |
7AXA | X-ray | 226 A | A | 130-434 | PDB |
7AXB | X-ray | 255 A | A | 130-434 | PDB |
7AXC | X-ray | 205 A | A | 130-434 | PDB |
7AXD | X-ray | 265 A | A | 130-434 | PDB |
7AXE | X-ray | 190 A | A | 130-434 | PDB |
7AXF | X-ray | 245 A | A | 130-434 | PDB |
7AXG | X-ray | 270 A | A | 130-434 | PDB |
7AXH | X-ray | 255 A | A | 130-434 | PDB |
7AXI | X-ray | 215 A | A | 130-434 | PDB |
7AXJ | X-ray | 230 A | A | 130-434 | PDB |
7AXK | X-ray | 200 A | A | 130-434 | PDB |
7AXL | X-ray | 250 A | A | 130-434 | PDB |
7N2A | X-ray | 226 A | A | 137-434 | PDB |
7RIO | X-ray | 248 A | A | 137-434 | PDB |
7RIU | X-ray | 205 A | A | 137-434 | PDB |
7RIV | X-ray | 220 A | A | 137-434 | PDB |
7YFK | X-ray | 210 A | A/B | 130-434 | PDB |
8CCT | X-ray | 290 A | A | 130-434 | PDB |
8CF9 | X-ray | 200 A | A | 130-434 | PDB |
8CH8 | X-ray | 215 A | A | 130-434 | PDB |
8E3N | X-ray | 225 A | A | 130-434 | PDB |
8EQZ | X-ray | 237 A | A/B | 130-434 | PDB |
8F5Y | X-ray | 215 A | A/B | 130-434 | PDB |
8FPE | X-ray | 230 A | A | 130-434 | PDB |
8SZV | X-ray | 220 A | A | 130-434 | PDB |
AF-O75469-F1 | Predicted | AlphaFoldDB |
409 variants for O75469
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1269667069 CA354055420 |
2 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA2557713 rs768372778 |
3 | V>L | No |
ClinGen ExAC gnomAD |
|
rs1428433468 CA354055463 |
6 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs143921735 CA2557714 |
8 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139729585 CA2557716 |
11 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2557715 rs761442741 |
11 | H>Y | No |
ClinGen ExAC gnomAD |
|
VAR_050581 CA2557717 rs1063955 |
12 | A>T | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA81750753 rs374088662 |
15 | V>L | No |
ClinGen Ensembl |
|
CA81750757 rs781531379 |
16 | H>L | No |
ClinGen gnomAD |
|
rs781531379 CA354055589 |
16 | H>P | No |
ClinGen gnomAD |
|
CA2557718 rs201648270 |
17 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557719 rs766155450 |
17 | C>W | No |
ClinGen ExAC gnomAD |
|
CA2557720 VAR_033237 rs59371185 |
18 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA354055627 rs1237061529 |
19 | D>E | No |
ClinGen gnomAD |
|
rs1224749184 CA354055630 COSM4005233 |
20 | T>A | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA2557721 rs758491224 |
20 | T>K | No |
ClinGen ExAC gnomAD |
|
rs1219117720 CA354055649 COSM1036793 |
21 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs1315404276 CA354055653 |
22 | S>P | No |
ClinGen gnomAD |
|
CA354055671 rs1216188922 |
24 | P>A | No |
ClinGen gnomAD |
|
rs1366147754 CA354055678 |
24 | P>L | No |
ClinGen TOPMed |
|
VAR_012228 CA2557723 rs12721613 |
27 | P>S | allele PXR*2 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA2557725 rs781646686 |
29 | V>D | No |
ClinGen ExAC |
|
CA2557724 rs770086423 |
29 | V>I | No |
ClinGen ExAC gnomAD |
|
rs756493951 CA2557727 |
31 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs561984009 CA2557729 |
32 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs561984009 CA354055765 |
32 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2557728 rs780228223 |
32 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA2557730 rs377248798 |
33 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs747640055 CA2557732 |
34 | E>D | No |
ClinGen ExAC gnomAD |
|
rs774172261 CA2557731 |
34 | E>K | No |
ClinGen ExAC gnomAD |
|
rs375785850 CA354055813 |
36 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375785850 CA2557735 |
36 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_012229 rs12721607 CA2557734 |
36 | G>R | allele PXR*3 [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1047883186 CA81750853 |
37 | G>S | No |
ClinGen gnomAD |
|
rs533429053 CA2557736 |
40 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1427230711 CA354055851 |
40 | I>T | No |
ClinGen TOPMed |
|
rs776219511 CA2557737 COSM1418050 |
42 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs151248272 CA2557738 |
42 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs151248272 CA354055875 |
42 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs974968906 CA354055886 |
44 | C>F | No |
ClinGen TOPMed |
|
CA81750872 rs974968906 |
44 | C>Y | No |
ClinGen TOPMed |
|
rs751825488 CA2557740 |
45 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757293919 CA2557742 |
46 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557741 rs757293919 |
46 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557744 rs756514899 |
50 | G>C | No |
ClinGen ExAC gnomAD |
|
rs890659419 CA81750892 |
50 | G>V | No |
ClinGen gnomAD |
|
CA354055996 rs1469447639 |
54 | N>S | No |
ClinGen gnomAD |
|
CA81750907 rs1009134763 |
55 | V>A | No |
ClinGen TOPMed |
|
rs780646192 CA2557745 |
56 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1376552093 CA354056027 |
57 | T>A | No |
ClinGen TOPMed |
|
rs749570207 CA2557746 |
58 | C>R | No |
ClinGen ExAC gnomAD |
|
rs922087091 CA81750921 |
58 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA2557749 rs747878625 |
59 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557748 rs778678548 |
59 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs377629240 CA2557747 |
59 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
CA81750930 rs984502020 |
60 | G>A | No |
ClinGen TOPMed |
|
CA2557750 rs199999304 |
60 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1353209173 CA354056089 |
61 | C>* | No |
ClinGen TOPMed gnomAD |
|
rs772537982 CA354056117 |
62 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1577281533 CA354056135 |
63 | G>D | No |
ClinGen Ensembl |
|
rs1559788699 CA354056141 |
64 | F>S | No |
ClinGen Ensembl |
|
CA2557752 rs370890377 |
65 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1316167492 CA354056147 |
65 | F>L | No |
ClinGen gnomAD |
|
rs1559789550 CA354056561 |
68 | A>T | No |
ClinGen Ensembl |
|
CA354056572 rs1480451898 |
69 | M>I | No |
ClinGen gnomAD |
|
rs1559789554 CA354056568 |
69 | M>L | No |
ClinGen Ensembl |
|
CA2557778 rs773536011 |
72 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1169152470 CA354056600 |
73 | A>S | No |
ClinGen gnomAD |
|
CA81751988 rs979295561 |
73 | A>V | No |
ClinGen Ensembl |
|
rs1407382756 CA354056610 |
74 | R>Q | No |
ClinGen TOPMed |
|
CA2557780 rs754289162 |
76 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354056696 rs1316429046 |
80 | R>Q | No |
ClinGen gnomAD |
|
rs1384110705 CA354056689 |
80 | R>W | No |
ClinGen gnomAD |
|
CA2557782 rs765842027 |
82 | G>R | No |
ClinGen ExAC gnomAD |
|
COSM479262 rs1343552901 CA354056766 |
84 | C>* | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1462533648 CA354056772 |
85 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA2557785 rs777268672 |
86 | I>N | No |
ClinGen ExAC gnomAD |
|
CA354056800 rs1577283480 |
87 | T>P | No |
ClinGen Ensembl |
|
CA81752008 rs956098723 |
88 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs545818462 CA2557786 |
88 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA354056818 rs956098723 |
88 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs756712963 CA354056838 CA2557787 |
89 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1284820806 CA354056834 |
89 | K>R | No |
ClinGen gnomAD |
|
rs1577283496 CA354056842 |
90 | T>P | No |
ClinGen Ensembl |
|
CA354056857 rs150019952 |
91 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs150019952 CA2557788 |
91 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA354056873 rs1022524999 |
92 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1022524999 CA81752025 |
92 | R>P | No |
ClinGen TOPMed gnomAD |
|
CA2557791 rs779991929 |
94 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354056910 rs1455632506 |
95 | Q>K | No |
ClinGen gnomAD |
|
rs1157083954 CA354056933 |
96 | A>T | No |
ClinGen gnomAD |
|
CA81752040 VAR_018340 rs72551371 |
98 | R>C | No |
ClinGen UniProt Ensembl dbSNP |
|
CA354056990 rs1305029551 |
99 | L>P | No |
ClinGen gnomAD |
|
rs917173740 CA81752042 |
100 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA354056998 rs1386123286 |
100 | R>H | No |
ClinGen gnomAD |
|
rs768540361 CA2557793 |
101 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1236534380 CA354057021 |
101 | K>N | No |
ClinGen gnomAD |
|
CA2557794 rs773302670 |
101 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354057027 rs761016051 |
102 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761016051 CA2557795 |
102 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749979628 CA354057114 |
106 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs749979628 CA354057113 |
106 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA2557800 rs569524145 |
106 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs569524145 CA81752079 |
106 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs749979628 CA81752086 |
106 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs200198969 CA354057130 |
107 | M>K | No |
ClinGen 1000Genomes TOPMed |
|
rs200198969 CA2557801 |
107 | M>R | No |
ClinGen 1000Genomes TOPMed |
|
rs1172565762 CA354057601 |
112 | I>N | No |
ClinGen TOPMed gnomAD |
|
rs1413944791 CA354057591 |
112 | I>V | No |
ClinGen TOPMed |
|
rs1438668845 CA354057640 |
113 | M>I | No |
ClinGen TOPMed |
|
rs1463977583 CA354057629 |
113 | M>T | No |
ClinGen gnomAD |
|
rs1454314508 CA354057708 |
115 | D>A | No |
ClinGen gnomAD |
|
rs373686292 CA354057719 |
115 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762110065 CA2557823 |
115 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762110065 CA2557824 |
115 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755621657 CA2557826 |
116 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354057792 rs1309835132 |
117 | A>G | No |
ClinGen gnomAD |
|
CA2557828 rs765931820 |
117 | A>S | No |
ClinGen ExAC gnomAD |
|
rs542581336 CA2557830 |
118 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1239295516 CA354057811 |
119 | E>K | No |
ClinGen TOPMed |
|
rs1205910367 CA354057866 |
121 | R>K | No |
ClinGen gnomAD |
|
CA2557833 rs533749078 |
122 | R>G | No |
ClinGen ExAC gnomAD |
|
rs12721608 CA2557835 |
122 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557834 VAR_012230 rs12721608 |
122 | R>Q | allele PXR*4 [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
CA2557832 rs533749078 |
122 | R>W | No |
ClinGen ExAC gnomAD |
|
CA354057914 rs1577284506 |
123 | A>G | No |
ClinGen Ensembl |
|
CA2557837 rs201081582 |
124 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs796992519 CA81752684 |
124 | L>V | No |
ClinGen gnomAD |
|
rs555441030 CA2557840 |
127 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA354057968 rs371659081 |
127 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2557841 rs371659081 |
127 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs555441030 CA2557838 |
127 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs998779933 CA81752697 |
130 | S>N | No |
ClinGen TOPMed |
|
rs772496647 CA2557842 |
130 | S>R | No |
ClinGen ExAC gnomAD |
|
CA2557845 rs375233676 |
132 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2557844 rs375233676 |
132 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2557843 rs772838074 |
132 | R>W | No |
ClinGen ExAC gnomAD |
|
CA2557846 rs753350624 |
134 | G>E | No |
ClinGen ExAC gnomAD |
|
CA354058101 rs1208628681 |
135 | T>I | No |
ClinGen TOPMed |
|
rs1577284562 CA354058084 |
135 | T>P | No |
ClinGen Ensembl |
|
rs201940433 CA2557847 |
136 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765197913 CA2557848 |
137 | P>T | No |
ClinGen ExAC gnomAD |
|
CA354058156 rs1206018744 |
139 | G>* | No |
ClinGen TOPMed |
|
CA2557853 rs758263277 |
140 | V>G | No |
ClinGen ExAC gnomAD |
|
CA2557851 rs72551372 |
140 | V>M | No |
ClinGen ESP |
|
CA2557854 rs573567813 |
141 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2557855 rs751409859 |
142 | G>W | No |
ClinGen ExAC gnomAD |
|
rs1193022204 CA354058254 |
146 | E>K | No |
ClinGen gnomAD |
|
CA2557858 rs72551373 VAR_018341 |
148 | R>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA2557857 rs780452746 |
148 | R>W | No |
ClinGen ExAC gnomAD |
|
rs145927431 CA2557859 |
149 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354058349 rs1419412608 |
151 | I>T | No |
ClinGen gnomAD |
|
rs1577284652 CA354058339 |
151 | I>V | No |
ClinGen Ensembl |
|
rs1318907001 CA354058356 |
152 | R>G | No |
ClinGen TOPMed |
|
rs375457171 CA2557860 |
153 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354058373 rs375457171 |
153 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA81752757 rs975415207 |
155 | M>T | No |
ClinGen TOPMed |
|
rs138795315 CA2557861 |
156 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138795315 CA354058424 |
156 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs773499666 CA2557863 |
157 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354058477 rs1188078946 |
159 | M>I | No |
ClinGen TOPMed |
|
CA2557864 rs761060380 |
160 | K>N | No |
ClinGen ExAC gnomAD |
|
rs1273540746 CA354058487 |
160 | K>Q | No |
ClinGen gnomAD |
|
rs1224625973 CA354058506 |
161 | T>A | No |
ClinGen gnomAD |
|
CA354058539 rs1216033567 |
162 | F>C | No |
ClinGen gnomAD |
|
CA354058537 rs1351775615 |
162 | F>V | No |
ClinGen TOPMed gnomAD |
|
rs72551374 CA2557866 |
163 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354058578 rs1451352725 |
164 | T>A | No |
ClinGen TOPMed |
|
rs1451352725 CA354058580 |
164 | T>S | No |
ClinGen TOPMed |
|
CA81752776 rs756102563 |
165 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA354058610 rs1245989103 |
165 | T>I | No |
ClinGen gnomAD |
|
CA2557868 rs764720561 |
168 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs553589290 CA2557869 |
170 | K>N | No |
ClinGen ExAC gnomAD |
|
rs373183819 CA81752801 |
171 | N>T | No |
ClinGen ESP TOPMed gnomAD |
|
CA81752802 rs763487661 |
172 | F>V | No |
ClinGen Ensembl |
|
CA2557871 rs373024967 |
173 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2557870 rs201775074 |
173 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354059285 rs1445960808 |
175 | P>L | No |
ClinGen gnomAD |
|
CA354059293 rs765529027 |
176 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557894 rs765529027 |
176 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557895 rs752727322 |
177 | V>L | No |
ClinGen ExAC gnomAD |
|
rs376112054 CA2557898 |
182 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373870063 CA2557899 |
183 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs906302130 CA81753169 |
184 | L>F | No |
ClinGen Ensembl |
|
rs746244461 CA2557901 |
185 | P>L | No |
ClinGen ExAC gnomAD |
|
rs781353779 CA2557900 |
185 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1478478283 CA354059426 |
187 | S>F | No |
ClinGen gnomAD |
|
CA2557903 rs769287200 |
190 | A>T | No |
ClinGen ExAC gnomAD |
|
rs775228283 CA2557904 |
190 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557905 rs748782694 |
192 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557906 rs748782694 |
192 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1404700759 CA354059477 |
193 | R>K | No |
ClinGen gnomAD |
|
CA354059539 rs1412966426 |
197 | A>D | No |
ClinGen gnomAD |
|
CA354059541 rs1412966426 |
197 | A>V | No |
ClinGen gnomAD |
|
rs1333683212 CA354059593 |
200 | S>R | No |
ClinGen gnomAD |
|
rs894661381 CA81753203 |
201 | Q>H | No |
ClinGen Ensembl |
|
rs201940328 CA354059635 |
203 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557910 rs199710321 |
203 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201940328 CA2557908 |
203 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1339723554 CA354059646 |
204 | K>E | No |
ClinGen gnomAD |
|
CA354059668 rs1223964209 |
205 | D>Y | No |
ClinGen gnomAD |
|
rs760541932 CA354059779 |
211 | V>F | No |
ClinGen ExAC gnomAD |
|
rs760541932 CA2557912 |
211 | V>I | No |
ClinGen ExAC gnomAD |
|
rs752954517 CA2557914 |
214 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA2557915 rs758467475 |
214 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA2557916 rs779954489 |
215 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557920 rs377500972 |
216 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2557921 rs377500972 |
216 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2557919 rs377500972 |
216 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2557918 rs757634172 |
216 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA81753243 CA2557923 rs749007639 |
217 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM78194 rs749007639 CA2557924 |
217 | G>W | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA354059873 rs147984184 |
218 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2557925 rs147984184 |
218 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354059870 rs147984184 |
218 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354059894 rs1385921021 |
219 | D>G | No |
ClinGen gnomAD |
|
rs538208001 CA354059888 |
219 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs538208001 CA2557926 |
219 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA354059913 rs1421642994 |
220 | G>D | No |
ClinGen gnomAD |
|
rs1404116609 CA354059924 |
221 | S>G | No |
ClinGen TOPMed |
|
CA81753248 rs200618563 |
223 | W>C | No |
ClinGen Ensembl |
|
CA2557928 rs773253505 |
224 | N>S | No |
ClinGen ExAC gnomAD |
|
CA354059988 rs1405498377 |
224 | N>Y | No |
ClinGen gnomAD |
|
rs760358828 CA2557929 |
226 | K>N | No |
ClinGen ExAC |
|
CA354060048 rs1329166731 |
227 | P>S | No |
ClinGen gnomAD |
|
CA81753255 rs993502856 |
228 | P>S | No |
ClinGen Ensembl |
|
rs370995407 CA2557933 |
230 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
CA354060116 rs1284665228 |
232 | G>D | No |
ClinGen gnomAD |
|
rs191312162 CA2557937 |
233 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs77816628 CA2557938 |
234 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354060154 rs756423102 |
236 | I>F | No |
ClinGen ExAC |
|
CA2557940 rs756423102 |
236 | I>V | No |
ClinGen ExAC |
|
CA354060170 rs1450296477 |
237 | F>V | No |
ClinGen gnomAD |
|
rs754260839 CA354060248 |
242 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA81753280 rs754260839 |
242 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754260839 CA2557943 |
242 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754641379 CA354060258 |
243 | M>L | No |
ClinGen ExAC gnomAD |
|
rs1490291991 CA354060263 |
243 | M>R | No |
ClinGen TOPMed |
|
rs754641379 CA2557944 |
243 | M>V | No |
ClinGen ExAC gnomAD |
|
rs778733994 CA2557945 |
244 | A>G | No |
ClinGen ExAC gnomAD |
|
CA2557946 rs747592553 |
245 | D>A | No |
ClinGen ExAC gnomAD |
|
rs574094737 CA2557947 |
246 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2557948 rs777564852 |
246 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs574094737 COSM1632745 CA354060300 |
246 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
rs141599641 CA2557950 |
247 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs141599641 CA2557949 |
247 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354060330 rs1271748693 |
248 | T>A | No |
ClinGen TOPMed |
|
rs776337288 CA2557951 |
249 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs759357800 CA2557952 |
250 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1237522486 CA354060414 |
252 | K>N | No |
ClinGen gnomAD |
|
rs768816150 CA2557953 |
253 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768816150 CA354060430 |
253 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354060448 rs1222625969 |
254 | I>M | No |
ClinGen TOPMed |
|
rs964915799 CA81753301 |
256 | S>G | No |
ClinGen Ensembl |
|
rs774604402 CA2557954 |
258 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761766539 CA354060553 |
260 | V>A | No |
ClinGen ExAC gnomAD |
|
rs761766539 CA2557955 |
260 | V>G | No |
ClinGen ExAC gnomAD |
|
CA2557957 rs750483931 |
261 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2557959 rs146128653 |
263 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2557958 rs761179278 |
263 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354060592 rs761179278 |
263 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs146128653 CA354060602 |
263 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354061119 rs1559791515 |
266 | D>V | No |
ClinGen Ensembl |
|
rs777320630 CA2557977 |
269 | I>F | No |
ClinGen ExAC gnomAD |
|
CA354061156 rs759977935 |
269 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1323369621 CA354061151 |
269 | I>N | No |
ClinGen gnomAD |
|
CA354061150 rs777320630 |
269 | I>V | No |
ClinGen ExAC gnomAD |
|
CA2557979 rs765752068 |
270 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354061157 rs765752068 |
270 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs541839505 CA2557982 |
271 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2557981 rs144833620 |
271 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1477398226 CA354061180 |
272 | Q>K | No |
ClinGen TOPMed |
|
rs1375485214 CA354061184 |
272 | Q>P | No |
ClinGen TOPMed |
|
CA354061194 rs1200911701 |
273 | I>V | No |
ClinGen TOPMed |
|
rs1456499728 CA354061224 |
276 | L>Q | No |
ClinGen gnomAD |
|
CA2557984 rs371067095 |
277 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751030739 CA2557983 |
277 | K>T | No |
ClinGen ExAC gnomAD |
|
rs200219497 CA354061241 |
278 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200219497 CA2557985 |
278 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs976156170 CA81753924 |
278 | G>R | No |
ClinGen TOPMed |
|
rs1344388711 CA354061253 |
279 | A>V | No |
ClinGen TOPMed |
|
rs779833449 CA2557988 |
280 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354061285 rs367648421 |
282 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354061292 rs1192782454 |
282 | E>A | No |
ClinGen gnomAD |
|
rs367648421 CA2557990 |
282 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1444991668 CA354061305 |
283 | L>P | No |
ClinGen TOPMed |
|
rs771205341 CA2557993 |
287 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354061347 rs1413623058 |
287 | R>S | No |
ClinGen TOPMed |
|
CA2557994 rs771205341 |
287 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs942238206 CA2557995 |
289 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs201179068 CA2558003 |
294 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201179068 CA354061422 |
294 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2558001 rs763780333 |
294 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201179068 CA2558002 |
294 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs756006781 CA2558006 |
295 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354061423 rs749942595 |
295 | E>K | No |
ClinGen ExAC gnomAD |
|
rs749942595 CA2558005 |
295 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA2558007 rs199860148 |
301 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2558010 rs778054838 |
303 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2558009 rs142454025 |
303 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
rs1489369518 CA354061531 |
305 | S>T | No |
ClinGen gnomAD |
|
rs1046989140 CA81753962 |
306 | Y>H | No |
ClinGen Ensembl |
|
rs771289157 CA354061569 |
308 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1421474484 CA354061582 |
309 | E>A | No |
ClinGen gnomAD |
|
CA2558013 rs781350413 |
311 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2558014 rs773503796 |
312 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774659689 CA2558036 |
314 | G>V | No |
ClinGen ExAC gnomAD |
|
rs375142772 CA2558037 |
316 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2558038 rs771690396 |
318 | L>F | No |
ClinGen ExAC gnomAD |
|
CA354061750 rs1275367503 |
322 | P>R | No |
ClinGen TOPMed |
|
rs1436851778 CA354061771 |
324 | L>R | No |
ClinGen gnomAD |
|
rs1187745331 CA354061799 |
327 | H>Y | No |
ClinGen gnomAD |
|
rs1316864493 CA354061811 |
328 | Y>C | No |
ClinGen TOPMed |
|
rs760231204 CA2558040 |
328 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA2558042 rs762908247 |
329 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA354061859 rs765294571 |
332 | K>M | No |
ClinGen ExAC gnomAD |
|
CA2558044 rs765294571 |
332 | K>T | No |
ClinGen ExAC gnomAD |
|
rs943929920 CA81754068 |
335 | L>Q | No |
ClinGen Ensembl |
|
CA354061898 rs1409620636 |
336 | H>P | No |
ClinGen gnomAD |
|
CA2558051 rs376659976 |
340 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs565595512 CA354061945 |
340 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2558050 rs565595512 |
340 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1338435034 CA354061982 |
343 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA2558057 rs772496539 |
349 | F>S | No |
ClinGen ExAC gnomAD |
|
rs1257515500 CA354062063 |
350 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA2558058 rs772842174 |
352 | D>N | No |
ClinGen ExAC gnomAD |
|
rs747428529 CA2558084 |
353 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747428529 CA354062148 |
353 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1737177 rs200382925 CA2558086 |
353 | R>H | kidney central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs200382925 CA81754175 |
353 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs747428529 CA81754170 |
353 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776391299 CA2558087 |
354 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs147825108 CA354062178 |
355 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147825108 CA2558088 |
355 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140256022 CA81754180 |
356 | V>G | No |
ClinGen ESP gnomAD |
|
CA354062185 rs1467387959 |
356 | V>M | No |
ClinGen gnomAD |
|
rs1441667815 CA354062204 |
357 | L>P | No |
ClinGen gnomAD |
|
CA2558091 rs762924091 |
358 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA2558092 rs768717426 |
358 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs773969078 CA2558093 |
359 | H>R | No |
ClinGen ExAC gnomAD |
|
CA2558094 rs751429694 |
360 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2558095 rs552135134 |
360 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2558096 rs780684359 |
361 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs933896594 CA81754201 |
362 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA354062281 rs1340484968 |
362 | V>L | No |
ClinGen gnomAD |
|
CA354062278 rs1340484968 |
362 | V>M | No |
ClinGen gnomAD |
|
CA354062299 rs1577287684 |
363 | D>A | No |
ClinGen Ensembl |
|
rs1049623483 CA81754205 |
363 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA81754207 rs949600566 |
364 | Q>K | No |
ClinGen TOPMed gnomAD |
|
CA354062316 rs1259023751 |
365 | L>Q | No |
ClinGen gnomAD |
|
CA81754209 rs889604951 |
366 | Q>P | No |
ClinGen TOPMed gnomAD |
|
CA354062361 rs1249914367 |
367 | E>G | No |
ClinGen gnomAD |
|
CA354062355 rs1194240746 |
367 | E>Q | No |
ClinGen gnomAD |
|
CA81754211 rs1046611926 |
368 | Q>K | No |
ClinGen Ensembl |
|
CA81754214 rs369188703 |
369 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
VAR_033238 CA2558099 rs35761343 |
370 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA354062442 rs1218063370 |
372 | T>S | No |
ClinGen TOPMed |
|
CA354062495 rs1559792041 |
375 | S>F | No |
ClinGen Ensembl |
|
CA2558100 rs758865308 |
377 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745423296 CA2558101 |
379 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2558102 rs546792969 COSM3669068 |
380 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA2558104 rs780700712 COSM1217779 |
381 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs72551375 CA2558103 VAR_018342 |
381 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1463370348 CA354062598 |
382 | P>L | No |
ClinGen TOPMed |
|
CA354062624 rs1297212066 |
383 | Q>H | No |
ClinGen gnomAD |
|
rs1402329533 CA354062640 |
385 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs745572717 CA2558105 |
385 | A>V | No |
ClinGen ExAC gnomAD |
|
rs769584263 CA2558106 |
386 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs144612379 CA2558131 |
388 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA354062918 rs1434559203 |
388 | F>L | No |
ClinGen gnomAD |
|
CA354062913 rs144612379 |
388 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2558134 rs772955551 |
390 | F>L | No |
ClinGen ExAC gnomAD |
|
CA81754542 rs1046005768 |
392 | K>R | No |
ClinGen Ensembl |
|
CA354062953 rs1222448541 |
394 | M>V | No |
ClinGen TOPMed |
|
rs1419720009 CA354062976 |
396 | M>I | No |
ClinGen gnomAD |
|
rs1393990160 CA354062968 |
396 | M>V | No |
ClinGen gnomAD |
|
CA354062979 rs1159835423 |
397 | L>F | No |
ClinGen gnomAD |
|
CA2558137 rs138909256 |
399 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2558138 rs201008680 |
401 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1443380230 CA354063004 |
401 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1443380230 CA354063006 |
401 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1347311088 CA354063011 |
402 | S>N | No |
ClinGen gnomAD |
|
rs764289441 CA2558139 |
402 | S>R | No |
ClinGen ExAC gnomAD |
|
CA2558140 VAR_018343 rs72551376 |
403 | I>V | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs1315047488 COSM3845928 CA354063036 |
406 | Q>* | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1315911114 CA354063038 |
406 | Q>R | No |
ClinGen TOPMed |
|
CA81754554 rs750065304 |
407 | H>D | No |
ClinGen TOPMed |
|
CA2558142 rs767940172 |
407 | H>R | No |
ClinGen ExAC gnomAD |
|
CA354063048 rs1577288702 |
408 | T>P | No |
ClinGen Ensembl |
|
rs138512680 CA2558144 |
410 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2558143 COSM479264 rs750767310 |
410 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1439814825 CA354063065 |
411 | L>M | No |
ClinGen gnomAD |
|
rs753604506 CA2558146 |
412 | L>V | No |
ClinGen ExAC gnomAD |
|
CA2558147 rs377445958 |
413 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2558148 rs778422709 |
413 | R>H | No |
ClinGen ExAC gnomAD |
|
rs747645727 CA2558149 |
414 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1350862529 CA354063104 |
417 | I>T | No |
ClinGen gnomAD |
|
rs1473385020 CA354063101 |
417 | I>V | No |
ClinGen TOPMed |
|
CA354063119 rs1463325700 |
419 | P>R | No |
ClinGen gnomAD |
|
rs537873676 CA2558150 |
422 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA81754570 rs200964018 |
423 | P>L | No |
ClinGen Ensembl |
|
CA354063142 rs1559792589 |
423 | P>S | No |
ClinGen Ensembl |
|
rs1030264620 CA81754573 |
425 | M>V | No |
ClinGen Ensembl |
|
CA2558153 rs56162473 |
426 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2558154 rs568300037 |
427 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2558156 rs370394566 |
430 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2558157 rs375281175 |
431 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
rs1211554084 CA354063208 |
433 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs547650613 CA2558161 |
434 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with O75469
9 regional properties for O75469
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | SH3 domain | 228 - 297 | IPR001452 |
domain | PDZ domain | 129 - 208 | IPR001478 |
domain | L27 domain | 1 - 110 | IPR004172 |
domain | Guanylate kinase-like domain | 351 - 538 | IPR008144 |
domain | Guanylate kinase/L-type calcium channel beta subunit | 350 - 541 | IPR008145 |
domain | L27 domain, C-terminal | 1 - 53 | IPR014775-1 |
domain | L27 domain, C-terminal | 58 - 108 | IPR014775-2 |
conserved_site | Guanylate kinase, conserved site | 386 - 403 | IPR020590 |
domain | MPP6, SH3 domain | 232 - 292 | IPR035603 |
5 GO annotations of cellular component
Name | Definition |
---|---|
chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
intermediate filament cytoskeleton | Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
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. |
8 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, 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. |
nuclear receptor binding | Binding to a nuclear receptor protein. Nuclear receptor proteins are DNA-binding transcription factors which are regulated by binding to a ligand. |
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 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). |
12 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. |
negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
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 gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
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. |
signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
steroid metabolic process | The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. |
xenobiotic catabolic process | The chemical reactions and pathways resulting in the breakdown of a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
xenobiotic transport | The directed movement of a xenobiotic into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
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 |
P10588 | NR2F6 | Nuclear receptor subfamily 2 group F member 6 | Homo sapiens (Human) | PR |
P06401 | PGR | Progesterone receptor | Homo sapiens (Human) | EV |
P10589 | NR2F1 | COUP transcription factor 1 | Homo sapiens (Human) | PR |
P24468 | NR2F2 | COUP transcription factor 2 | Homo sapiens (Human) | PR |
P49116 | NR2C2 | Nuclear receptor subfamily 2 group C member 2 | Homo sapiens (Human) | PR |
P37231 | PPARG | Peroxisome proliferator-activated receptor gamma | Homo sapiens (Human) | PR |
Q14995 | NR1D2 | Nuclear receptor subfamily 1 group D member 2 | 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 |
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 |
G5EFF5 | daf-12 | Nuclear hormone receptor family member daf-12 | 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 |
MEVRPKESWN | HADFVHCEDT | ESVPGKPSVN | ADEEVGGPQI | CRVCGDKATG | YHFNVMTCEG |
70 | 80 | 90 | 100 | 110 | 120 |
CKGFFRRAMK | RNARLRCPFR | KGACEITRKT | RRQCQACRLR | KCLESGMKKE | MIMSDEAVEE |
130 | 140 | 150 | 160 | 170 | 180 |
RRALIKRKKS | ERTGTQPLGV | QGLTEEQRMM | IRELMDAQMK | TFDTTFSHFK | NFRLPGVLSS |
190 | 200 | 210 | 220 | 230 | 240 |
GCELPESLQA | PSREEAAKWS | QVRKDLCSLK | VSLQLRGEDG | SVWNYKPPAD | SGGKEIFSLL |
250 | 260 | 270 | 280 | 290 | 300 |
PHMADMSTYM | FKGIISFAKV | ISYFRDLPIE | DQISLLKGAA | FELCQLRFNT | VFNAETGTWE |
310 | 320 | 330 | 340 | 350 | 360 |
CGRLSYCLED | TAGGFQQLLL | EPMLKFHYML | KKLQLHEEEY | VLMQAISLFS | PDRPGVLQHR |
370 | 380 | 390 | 400 | 410 | 420 |
VVDQLQEQFA | ITLKSYIECN | RPQPAHRFLF | LKIMAMLTEL | RSINAQHTQR | LLRIQDIHPF |
430 | |||||
ATPLMQELFG | ITGS |