O43189
PR
Gene name |
PHF1 (PCL1) |
Protein name |
PHD finger protein 1 |
Names |
Protein PHF1, hPHF1, Polycomb-like protein 1, hPCl1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5252 |
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
10 structures for O43189
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2E5P | NMR | - | A | 29-83 | PDB |
| 2M0O | NMR | - | A | 6-83 | PDB |
| 4HCZ | X-ray | 185 A | A/B | 28-85 | PDB |
| 5XFN | X-ray | 190 A | A | 25-340 | PDB |
| 5XFO | X-ray | 190 A | A | 25-340 | PDB |
| 5XFP | X-ray | 230 A | A/B/E | 25-360 | PDB |
| 6WAT | X-ray | 180 A | AA/AC/BA/BC/CA/CC/DA/DC/EA/EC/FA/FC/GA/GC/HA/HC/IA/IC/JA/JC/KA/KC/LA/LC/MA/MC/NA/NC/OA/OC | 28-87 | PDB |
| 6WAV | X-ray | 170 A | A/B/C/D | 28-87 | PDB |
| 7LKY | X-ray | 185 A | A/B/C/D/E/F/G/H | 28-87 | PDB |
| AF-O43189-F1 | Predicted | AlphaFoldDB |
431 variants for O43189
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM3394126 CA3757558 rs759214198 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs781403506 CA363663441 |
4 | P>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs781403506 CA3757563 |
4 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3757562 rs757475663 |
4 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1297260046 CA363663462 |
5 | P>L | No |
ClinGen gnomAD |
|
|
CA363663454 rs1167989942 |
5 | P>S | No |
ClinGen TOPMed |
|
|
CA137088257 rs572492088 |
6 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs770498402 | 6 | R>P | Variant assessed as Somatic; 0.0003704 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3757566 rs780098538 COSM1643030 |
6 | R>Q | stomach [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA3757565 rs572492088 |
6 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471981210 CA363663485 |
8 | S>N | No |
ClinGen gnomAD |
|
|
CA3757567 rs749684955 |
9 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363663496 rs749684955 |
9 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3757568 rs138236983 |
9 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368818327 CA3757569 |
11 | G>A | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1309775332 CA363663553 |
12 | A>T | No |
TOPMed ClinGen |
|
|
rs371490134 CA137088285 |
12 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs374352027 CA137088287 |
13 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs771629046 CA3757571 |
13 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs368297880 CA3757572 |
14 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs760038186 CA3757573 |
15 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs371672794 CA3757574 |
18 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3757575 TCGA novel rs776102099 |
20 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD NCI-TCGA ClinGen |
|
rs759428242 CA3757576 |
21 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1187220918 CA363663838 |
25 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1187220918 CA363663834 |
25 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
CA137088300 rs866890619 |
27 | P>A | No |
TOPMed ClinGen |
|
|
rs765098175 CA3757577 |
27 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs866890619 CA363663855 |
27 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
| TCGA novel | 28 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363663905 rs764053763 |
30 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs764053763 CA3757580 |
30 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1312083 rs762993282 CA3757579 |
30 | R>W | urinary_tract Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1481851089 CA363663909 |
31 | L>F | No |
ClinGen TOPMed |
|
|
CA3757581 rs750544202 |
35 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA363664107 rs1412713640 |
42 | T>I | No |
ClinGen gnomAD |
|
|
CA137088307 VAR_044500 rs6934613 |
42 | T>S | No |
Ensembl ClinGen UniProt dbSNP |
|
|
rs1359567687 CA363664166 |
46 | L>Q | No |
ClinGen gnomAD |
|
|
rs941777820 CA137088313 |
50 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
CA363664322 rs1343461066 |
53 | K>Q | No |
ClinGen gnomAD |
|
|
CA3757586 rs779235793 |
53 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3757608 rs747445516 |
56 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs891608377 CA363664501 |
57 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3757610 rs780576229 |
57 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA137088376 rs891608377 |
57 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1156657875 CA363664523 |
59 | E>K | No |
gnomAD ClinGen |
|
|
CA363664639 rs1457959340 |
64 | Q>H | No |
gnomAD ClinGen |
|
|
CA363664748 rs1388861859 |
68 | D>G | No |
gnomAD ClinGen |
|
| TCGA novel | 69 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137088384 rs778609043 |
70 | Q>K | No |
ClinGen Ensembl |
|
|
rs749143205 CA3757614 |
75 | W>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768303839 CA3757615 |
79 | S>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768303839 CA363665540 |
79 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3757617 rs761642211 |
80 | P>H | No |
ExAC gnomAD ClinGen |
|
|
rs774413269 CA3757616 |
80 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767431959 CA3757618 |
81 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA137088435 rs879303785 |
83 | L>V | No |
TOPMed ClinGen |
|
|
rs976292527 CA137088441 |
85 | G>E | No |
ClinGen TOPMed |
|
|
CA363665658 rs1486313625 |
87 | E>K | No |
TOPMed ClinGen |
|
|
rs1273735250 CA363665676 |
88 | L>F | No |
ClinGen gnomAD |
|
|
rs367705535 CA3757632 |
91 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3757634 rs371271580 |
91 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367705535 CA3757631 |
91 | C>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs774030157 CA3757635 |
92 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA363665738 rs1321087177 |
92 | V>L | No |
TOPMed ClinGen |
|
|
rs1012798089 CA137088461 |
94 | R>C | No |
gnomAD ClinGen |
|
|
CA363665767 rs1012798089 |
94 | R>G | No |
ClinGen gnomAD |
|
|
rs1387150595 CA363665769 |
94 | R>H | No |
gnomAD ClinGen |
|
|
CA363665814 rs1219644053 |
97 | T>I | No |
ClinGen gnomAD |
|
|
CA363665841 rs1264801493 |
100 | P>S | No |
ClinGen TOPMed |
|
|
rs1447675638 CA363665859 |
102 | N>H | No |
ClinGen gnomAD |
|
|
rs369988459 CA3757638 |
103 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375821683 CA3757637 |
103 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759664324 CA3757639 |
105 | V>G | No |
ExAC gnomAD ClinGen |
|
|
rs201625667 CA137088479 |
106 | S>N | No |
ClinGen Ensembl |
|
|
COSM145776 CA363665963 rs1292809394 |
110 | C>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
rs775759898 COSM1078036 CA3757641 |
111 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763077280 CA3757642 |
111 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363666124 rs1191916525 |
117 | D>G | No |
ClinGen TOPMed |
|
|
rs763045540 CA3757663 |
117 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs763045540 CA363666120 |
117 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs768780021 CA3757664 |
123 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3757665 rs774607210 |
124 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs762136379 CA3757666 |
128 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs762136379 CA363666265 |
128 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761268636 CA3757669 |
131 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs114197798 CA3757668 |
131 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766934907 CA3757670 |
133 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481061519 CA363666379 |
137 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363666385 rs1179008230 |
137 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs754470379 CA137088634 CA3757672 |
138 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363666421 rs1455316898 |
142 | A>V | No |
ClinGen gnomAD |
|
|
CA3757677 rs571858795 |
144 | A>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363666431 rs571858795 |
144 | A>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363666561 rs1375769234 |
147 | R>K | No |
ClinGen gnomAD |
|
|
rs779056192 CA3757703 |
149 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA3757704 rs748119733 |
150 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA363666722 rs1273026977 |
155 | P>L | No |
gnomAD ClinGen |
|
| TCGA novel | 156 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363666759 rs1205605270 |
157 | A>G | No |
ClinGen gnomAD |
|
|
CA3757707 rs773526973 |
157 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1470954881 CA363666768 |
158 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs747417262 CA3757708 |
158 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3757709 rs140101976 |
160 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777060378 CA3757710 |
162 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777060378 CA363666825 |
162 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444637780 CA363666837 |
163 | M>K | No |
ClinGen gnomAD |
|
|
rs1164962496 CA363666872 |
165 | L>F | No |
ClinGen gnomAD |
|
|
CA363667030 rs1329265483 |
173 | G>A | No |
gnomAD ClinGen |
|
| TCGA novel | 177 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 179 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363667224 rs1383806838 |
182 | S>N | No |
ClinGen gnomAD |
|
|
CA3757715 rs763779171 |
183 | N>S | No |
ExAC gnomAD ClinGen |
|
|
rs1461387097 CA363667288 |
184 | R>Q | No |
ClinGen gnomAD |
|
|
rs1383071876 CA363667303 |
185 | Q>* | No |
TOPMed ClinGen |
|
|
CA363667331 rs1295528897 |
186 | Q>K | No |
ClinGen gnomAD |
|
|
rs979869744 CA137088746 |
194 | P>S | No |
ClinGen Ensembl |
|
|
rs761460634 CA3757737 |
198 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1025779493 CA137088820 |
205 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3757738 rs372034637 |
205 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 214 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363668190 rs1562853603 |
220 | S>N | No |
ClinGen Ensembl |
|
|
rs1226961547 CA363668267 |
225 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs766379296 CA3757741 |
226 | G>W | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 230 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372535149 CA137088882 |
231 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs901263884 CA137088885 |
235 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs144032908 CA3757762 |
238 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3757764 rs759548466 |
239 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363668667 rs1444015327 |
241 | P>T | No |
gnomAD ClinGen |
|
|
CA363668725 rs751708549 |
243 | K>I | No |
ExAC gnomAD ClinGen |
|
|
CA3757766 rs751708549 |
243 | K>T | No |
ExAC gnomAD ClinGen |
|
|
rs757256695 CA3757767 |
245 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363668764 rs1367949862 |
245 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA137088896 rs778061123 |
249 | L>V | No |
ClinGen gnomAD |
|
|
rs767831440 CA3757768 COSM3349899 |
250 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA363668862 rs1330392673 |
250 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
CA363669022 rs1374660454 |
254 | V>M | No |
ClinGen gnomAD |
|
|
rs1411005426 CA363669164 |
263 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 272 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912953213 CA137088967 |
275 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3757790 rs767493691 |
275 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA137088970 rs202135073 |
277 | I>V | No |
1000Genomes ClinGen |
|
|
CA137088973 COSM483946 rs1032617124 |
279 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs777108891 CA3757792 |
281 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777108891 CA137088976 |
281 | T>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201399798 CA137088979 |
284 | N>D | No |
1000Genomes ClinGen |
|
|
rs200870071 CA3757793 |
287 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754232931 CA3757794 |
287 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA363669714 rs1452853171 |
287 | S>R | No |
TOPMed ClinGen |
|
|
rs1409520808 CA363669724 |
289 | L>F | No |
TOPMed ClinGen |
|
|
rs1472882144 CA363669734 |
291 | G>R | No |
TOPMed ClinGen |
|
|
rs755305585 CA3757795 |
292 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1386101174 CA363669859 |
296 | T>A | No |
TOPMed ClinGen |
|
|
CA363669865 rs1426775372 |
296 | T>I | No |
ClinGen gnomAD |
|
|
CA3757814 rs754036775 |
297 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753037757 CA3757817 |
299 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA3757818 rs758840002 |
300 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs778291856 CA3757819 |
301 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3757820 rs3116713 VAR_034382 |
304 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs3116713 | 304 | R>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363669965 rs3116713 |
304 | R>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363670007 rs1478694644 |
307 | S>F | No |
ClinGen TOPMed |
|
|
rs756793916 CA3757822 |
310 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA3757821 rs756793916 |
310 | N>T | No |
ExAC gnomAD ClinGen |
|
|
rs779729918 CA3757825 |
312 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs769506496 CA3757824 |
312 | H>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3757826 rs749063381 |
314 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA363670107 rs1581946191 |
315 | R>C | No |
Ensembl ClinGen |
|
|
rs1291642306 CA363670109 |
315 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA363670113 rs1291642306 |
315 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 315 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 318 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363671114 rs1232857960 |
320 | R>S | No |
TOPMed ClinGen |
|
|
CA137089035 rs968400602 |
321 | E>Q | No |
ClinGen Ensembl |
|
|
rs1445150690 CA363671187 |
330 | G>A | No |
ClinGen gnomAD |
|
|
CA137089039 rs759560184 |
334 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3757849 rs759560184 |
334 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363671210 rs377134498 |
334 | R>W | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 338 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409112283 CA363671233 |
338 | P>T | No |
gnomAD ClinGen |
|
|
rs769938402 CA3757850 |
339 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201507218 CA3757851 |
342 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA137089044 rs751239683 |
342 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA363671277 rs1450777065 |
344 | G>R | No |
gnomAD ClinGen |
|
|
CA137089046 rs754694108 |
348 | L>F | No |
ClinGen Ensembl |
|
|
rs763272948 CA3757852 |
349 | T>S | No |
ExAC gnomAD ClinGen |
|
|
CA137089083 rs922499708 |
351 | F>L | No |
TOPMed gnomAD ClinGen |
|
| rs768704721 | 353 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs983183933 | 354 | G>G | No | Ensembl | |
|
rs1430189906 CA363671480 |
354 | G>V | No |
gnomAD ClinGen |
|
|
CA363671495 rs1479149945 |
355 | Q>R | No |
ClinGen gnomAD |
|
| rs762229233 | 355 | Q>R | No |
ExAC TOPMed gnomAD |
|
|
rs1156886998 CA363671502 |
356 | G>R | No |
gnomAD ClinGen |
|
|
rs774882082 CA3757872 |
357 | P>L | No |
ExAC gnomAD ClinGen |
|
|
rs768704721 CA3757871 |
357 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1404665579 | 357 | P>S | No | gnomAD | |
|
CA363671532 rs1581948624 |
358 | G>A | No |
ClinGen Ensembl |
|
| rs1209370428 | 359 | G>A | No | TOPMed | |
|
CA363671555 rs768179996 |
360 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs768179996 CA3757874 |
360 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs760162635 | 361 | V>L | No |
ExAC gnomAD |
|
| rs939481957 | 361 | V>S | No | Ensembl | |
|
CA137089094 rs909969183 |
362 | S>L | No |
ClinGen Ensembl |
|
| rs1277253229 | 362 | S>R | No | gnomAD | |
|
CA3757876 rs773835457 |
363 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA137089100 rs1045270321 |
363 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
|
CA137089102 rs905336327 |
364 | P>L | No |
ClinGen gnomAD |
|
| rs765907742 | 364 | P>V | No |
ExAC TOPMed gnomAD |
|
| rs375893284 | 365 | L>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs375893284 | 365 | L>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1056745650 CA137089107 |
366 | G>E | No |
ClinGen Ensembl |
|
|
COSM1621519 CA3757878 rs765907742 |
368 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3757879 rs753219003 |
368 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363671653 rs753219003 |
368 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs752516914 | 368 | R>R | No |
ExAC gnomAD |
|
|
rs553949897 CA137089119 |
369 | R>Q | No |
ClinGen gnomAD |
|
|
rs375893284 CA137089117 |
369 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764819983 CA137089121 |
371 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764819983 CA3757881 |
371 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs996557732 CA137089124 |
372 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA363671710 rs1389872180 |
373 | P>A | No |
TOPMed ClinGen |
|
|
CA137089126 rs1050687571 |
373 | P>L | No |
ClinGen TOPMed |
|
|
rs890813475 CA137089129 |
374 | E>Q | No |
TOPMed ClinGen |
|
| rs368520939 | 375 | P>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs758154389 | 375 | P>K | No |
ExAC gnomAD |
|
|
CA363671739 rs1179846787 |
375 | P>L | No |
ClinGen gnomAD |
|
| rs1383902370 | 376 | L>T | No |
TOPMed gnomAD |
|
| rs757078823 | 378 | R>E | No |
ExAC gnomAD |
|
| rs963877602 | 378 | R>R | No | TOPMed | |
|
rs78862138 CA3757885 |
379 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| rs1370451627 | 380 | Q>G | No |
TOPMed gnomAD |
|
|
rs963877602 CA137089146 |
381 | K>N | No |
ClinGen TOPMed |
|
| rs976981861 | 382 | G>R | No | gnomAD | |
|
CA3757886 rs757078823 |
382 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3757887 rs780198448 |
383 | K>R | No |
ClinGen ExAC gnomAD |
|
| rs749282964 | 383 | K>V | No |
ExAC TOPMed gnomAD |
|
|
rs1393406146 CA363671861 |
384 | V>A | No |
ClinGen gnomAD |
|
| rs774683950 | 384 | V>E | No |
ExAC gnomAD |
|
|
rs1390043573 CA363671868 |
385 | E>K | No |
ClinGen gnomAD |
|
| rs1310881804 | 385 | E>P | No | gnomAD | |
| rs772553079 | 387 | L>F | No |
ExAC gnomAD |
|
|
CA3757889 rs149902794 |
387 | L>Q | No |
ClinGen ESP ExAC |
|
| TCGA novel | 388 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3757890 rs774683950 |
388 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs771282153 | 389 | P>G | No |
ExAC gnomAD |
|
| rs1332065987 | 389 | P>R | No |
TOPMed gnomAD |
|
|
rs1245224372 CA363671944 |
390 | P>L | No |
ClinGen gnomAD |
|
|
CA3757891 rs748572233 |
390 | P>S | No |
ExAC gnomAD ClinGen |
|
| rs368222331 | 390 | P>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1241436512 | 391 | S>E | No | gnomAD | |
| rs764905868 | 391 | S>L | No |
ExAC TOPMed gnomAD |
|
|
CA3757894 rs761247075 |
391 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3757893 rs773923547 |
391 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1332065987 CA363671990 |
393 | V>E | No |
ClinGen TOPMed gnomAD |
|
| rs140266539 | 394 | R>* | No |
1000Genomes ExAC gnomAD |
|
|
rs368222331 CA3757896 |
394 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202000229 CA3757897 |
394 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202000229 CA363672001 |
394 | R>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs202000229 CA363672002 |
394 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs141157797 | 394 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3757899 rs752320698 |
395 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs757243741 | 395 | N>T | No |
ExAC gnomAD |
|
|
CA3757898 rs764905868 |
395 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs755087665 | 397 | P>E | No |
ExAC gnomAD |
|
|
rs141157797 CA3757901 |
398 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs141157797 CA3757902 |
398 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1487275522 | 398 | E>V | No | gnomAD | |
|
CA3757905 rs753990972 |
399 | P>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3757904 rs780956155 |
399 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs1379861956 | 400 | Q>R | No | gnomAD | |
|
CA137089178 rs76915106 |
401 | E>A | No |
ClinGen Ensembl |
|
|
rs755087665 CA3757906 |
401 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs779338684 | 401 | E>T | No |
ExAC gnomAD |
|
|
rs1487275522 CA363672108 |
402 | Q>* | No |
ClinGen gnomAD |
|
| rs1192588983 | 403 | R>L | No |
TOPMed gnomAD |
|
| rs1224935671 | 403 | R>P | No | gnomAD | |
|
rs772352148 CA363672164 |
405 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772352148 CA3757910 |
405 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3757909 rs200951067 |
405 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3757911 rs200528141 |
407 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1192588983 CA363672203 |
407 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| rs776968589 | 408 | L>I | No |
ExAC gnomAD |
|
|
CA3757913 rs371767533 |
408 | L>Q | No |
ESP ExAC gnomAD ClinGen |
|
|
rs139787773 CA3757912 |
408 | L>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| rs1197691448 | 411 | A>S | No | gnomAD | |
|
TCGA novel rs140386895 |
411 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ESP TOPMed gnomAD NCI-TCGA |
|
CA3757934 rs746367583 |
414 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs142630097 | 415 | S>* | No |
ESP ExAC gnomAD |
|
|
rs932378183 CA137089202 |
418 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
rs770216568 CA3757935 |
419 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426742684 CA363672454 |
420 | S>C | No |
ClinGen gnomAD |
|
|
rs1426742684 CA363672451 |
420 | S>F | No |
ClinGen gnomAD |
|
| rs1183372329 | 420 | S>I | No | gnomAD | |
|
CA363672482 rs1581950319 |
423 | P>T | No |
ClinGen Ensembl |
|
| rs770833118 | 424 | N>T | No |
ExAC gnomAD |
|
|
rs868572231 CA137089203 |
425 | Q>* | No |
ClinGen Ensembl |
|
| rs530537499 | 425 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs769711852 | 428 | Q>T | No |
ExAC TOPMed gnomAD |
|
| rs141011458 | 430 | S>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs141011458 | 430 | S>E | No |
ESP ExAC TOPMed gnomAD |
|
|
CA3757940 rs761725434 |
431 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA363672590 rs146745688 |
431 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1281201605 CA363672596 |
432 | G>D | No |
gnomAD ClinGen |
|
|
CA3757942 rs369954221 |
432 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1581950497 CA363672611 |
433 | Y>C | No |
Ensembl ClinGen |
|
|
CA363672605 rs1345090478 |
433 | Y>D | No |
gnomAD ClinGen |
|
| rs767685893 | 434 | N>S | No |
ExAC TOPMed gnomAD |
|
|
rs760700226 CA363672644 CA3757943 |
435 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs1315130896 CA363672651 |
436 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766368568 CA363672649 |
436 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs745625082 | 437 | P>D | No |
ExAC TOPMed gnomAD |
|
|
CA3757945 rs752854917 |
437 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs752854917 CA363672662 |
437 | P>L | No |
ClinGen ExAC gnomAD |
|
| rs1581953084 | 438 | T>P | No | Ensembl | |
|
CA3757946 rs758521068 |
440 | A>G | No |
ExAC gnomAD ClinGen |
|
|
CA3757947 COSM3394127 rs764422208 |
441 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764422208 CA363672707 |
441 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs373333588 CA3757948 |
441 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| rs775478494 | 442 | C>L | No |
ExAC TOPMed gnomAD |
|
| rs761860568 | 442 | C>L | No |
ExAC TOPMed gnomAD |
|
| rs1306491723 | 443 | L>I | No |
TOPMed gnomAD |
|
|
rs781411234 CA3757950 |
444 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA363672757 rs1157554846 |
445 | S>G | No |
ClinGen TOPMed gnomAD |
|
| rs371426764 | 445 | S>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs371426764 | 445 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1156947507 | 446 | S>F | No |
TOPMed gnomAD |
|
|
CA363672847 rs1197691448 |
446 | S>I | No |
ClinGen gnomAD |
|
| rs967317692 | 448 | I>K | No |
TOPMed gnomAD |
|
| rs1160808423 | 448 | I>R | No | gnomAD | |
|
CA363672872 rs1258324662 |
448 | I>V | No |
ClinGen gnomAD |
|
|
CA363672892 rs1181235530 |
449 | R>Q | No |
ClinGen gnomAD |
|
|
rs1458681920 CA363672889 |
449 | R>W | No |
ClinGen gnomAD |
|
| rs912730078 | 450 | M>F | No | TOPMed | |
|
CA3757977 rs142630097 |
451 | F>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3757978 rs150982256 |
454 | F>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs150982256 CA3757979 |
454 | F>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| rs374329100 | 454 | F>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs754183129 | 454 | F>S | No |
ExAC gnomAD |
|
| rs138734488 | 457 | S>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs780033853 | 458 | A>del | No |
ESP ExAC TOPMed gnomAD |
|
|
rs770833118 CA3757980 |
459 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA137089297 rs1004036561 |
461 | A>T | No |
ClinGen gnomAD |
|
|
CA3757982 rs759393949 |
462 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3757983 rs769711852 |
463 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363673102 rs769711852 |
463 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581952410 CA363673112 |
464 | S>F | No |
Ensembl ClinGen |
|
|
rs1360222151 CA363673134 |
467 | S>G | No |
gnomAD ClinGen |
|
|
CA363673143 rs761925397 CA3757985 |
468 | G>R | No |
ExAC gnomAD ClinGen |
|
|
rs767685893 CA3757986 |
469 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3757987 rs750635400 |
470 | P>Q | No |
ExAC gnomAD ClinGen |
|
|
CA3758006 rs769661737 |
474 | P>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363673208 rs769661737 |
474 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3758007 rs775478494 |
477 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3758008 rs761860568 |
478 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3758010 rs773209180 |
479 | I>M | No |
ExAC gnomAD ClinGen |
|
|
rs150208032 CA3758009 |
479 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3758011 rs371426764 |
480 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3758012 rs371426764 |
480 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363673269 rs1380188309 |
482 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs967317692 CA363673280 |
483 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs967317692 CA137089389 |
483 | T>R | No |
TOPMed gnomAD ClinGen |
|
|
CA137089392 rs747186476 |
484 | D>G | No |
TOPMed ClinGen |
|
|
rs868735942 CA137089397 |
486 | P>S | No |
ClinGen Ensembl |
|
|
CA363673323 rs1483289271 |
488 | S>N | No |
gnomAD ClinGen |
|
| TCGA novel | 489 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754183129 COSM252715 CA3758013 |
489 | A>V | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3758015 rs377274632 |
491 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363673343 rs377274632 |
491 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 491 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363673344 rs377274632 |
491 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs943588232 CA137089407 |
493 | M>V | No |
ClinGen Ensembl |
|
|
CA363673374 rs1306516016 |
495 | A>P | No |
gnomAD ClinGen |
|
|
rs1306516016 CA363673373 |
495 | A>T | No |
ClinGen gnomAD |
|
|
CA137089412 COSM1078044 rs931001504 |
497 | S>F | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
TOPMed ClinGen cosmic curated NCI-TCGA |
|
rs751052204 CA3758020 |
501 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363673418 rs1209041717 |
502 | S>F | No |
gnomAD ClinGen |
|
|
CA3758022 rs563918425 |
506 | G>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA363673442 rs1218268270 |
507 | L>F | No |
ClinGen TOPMed |
|
|
CA3758023 rs745702287 |
508 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3758025 rs368864667 |
510 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA363673462 rs1306051275 |
510 | R>L | No |
TOPMed ClinGen |
|
|
rs749253646 CA363673466 |
511 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749253646 CA3758026 |
511 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562858772 CA363673475 |
512 | A>V | No |
Ensembl ClinGen |
|
|
rs1164238936 CA363673478 |
513 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1164238936 CA363673476 |
513 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3758029 rs757060044 |
514 | P>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3758027 rs757060044 |
514 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3758028 rs757060044 |
514 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3758030 rs373454319 |
518 | C>G | No |
ESP ExAC ClinGen |
|
|
rs575713052 CA3758031 |
519 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3758032 rs141510460 |
519 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1051317717 CA137089449 |
520 | S>I | No |
ClinGen Ensembl |
|
|
rs765629909 CA3758033 |
523 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363673544 rs1581953716 |
525 | T>P | No |
ClinGen Ensembl |
|
|
rs1562858873 CA363673548 |
525 | T>S | No |
ClinGen Ensembl |
|
|
CA363673552 CA363673551 rs1338656795 |
526 | G>R | No |
gnomAD ClinGen |
|
|
CA363673550 rs1338656795 |
526 | G>W | No |
ClinGen gnomAD |
|
|
CA363673559 rs1265872257 |
527 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 527 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196912966 CA363673569 |
529 | V>L | No |
ClinGen gnomAD |
|
|
CA363673575 rs1257682531 |
530 | R>* | No |
ClinGen gnomAD |
|
|
rs764644569 CA3758036 |
533 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3758037 rs201620118 |
534 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1254650683 CA363673620 |
538 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1254650683 CA363673621 |
538 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3758038 rs376639282 |
538 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3758041 rs750089367 |
539 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3758040 rs750089367 |
539 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3758039 rs369871473 |
539 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168019564 CA363673627 |
540 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
CA3758043 rs147032936 COSM168224 |
543 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 546 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399968299 CA363673670 |
547 | R>Q | No |
gnomAD ClinGen |
|
|
rs754941553 CA3758045 |
547 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3758046 rs373763326 |
550 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA363673687 rs1302877303 |
550 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1216593758 CA363673692 |
551 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1216593758 CA363673690 |
551 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1277762831 CA363673710 |
554 | S>T | No |
ClinGen gnomAD |
|
|
CA363673749 rs1432417390 |
560 | E>K | No |
gnomAD ClinGen |
|
|
rs1562859134 CA363673776 |
563 | G>A | No |
Ensembl ClinGen |
|
|
rs1004492886 CA137089485 |
564 | G>E | No |
ClinGen TOPMed |
|
|
CA363673785 rs1254398019 |
565 | G>D | No |
gnomAD ClinGen |
|
|
CA137089488 rs376699088 |
565 | G>S | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA3758049 rs369341035 |
566 | I>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3758048 rs776784098 |
566 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA363673800 rs1258886199 |
567 | F>L | No |
gnomAD ClinGen |
1 associated diseases with O43189
Without disease ID
10 regional properties for O43189
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, PHD-type | 89 - 140 | IPR001965-1 |
| domain | Zinc finger, PHD-type | 188 - 238 | IPR001965-2 |
| domain | Tudor domain | 29 - 86 | IPR002999 |
| conserved_site | Zinc finger, PHD-type, conserved site | 90 - 139 | IPR019786 |
| domain | Zinc finger, PHD-finger | 87 - 142 | IPR019787 |
| domain | Polycomb-like MTF2 factor 2, C-terminal domain | 531 - 564 | IPR025894 |
| domain | PHD finger protein 1, PHD finger 1 | 89 - 139 | IPR031202 |
| domain | Lysine-specific demethylase 4-like, Tudor domain | 34 - 69 | IPR040477 |
| domain | PHD finger protein 1, PHD finger 2 | 188 - 239 | IPR047010 |
| domain | PHD finger protein 1, Tudor domain | 30 - 82 | IPR047399 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| 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. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| histone methyltransferase binding | Binding to a histone methyltransferase enzyme. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
| transcription corepressor binding | Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| negative regulation of histone H3-K27 methylation | Any process that decreases the rate, frequency, or extent of histone H3-K27 methylation. Histone H3-K27 methylation is the modification of histone H3 by addition of a methyl group to lysine at position 27 of the histone. |
| positive regulation of histone H3-K27 methylation | Any process that increases the rate, frequency, or extent of histone H3-K27 methylation. Histone H3-K27 methylation is the modification of histone H3 by addition of a methyl group to lysine at position 27 of the histone. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQPPRLSRS | GASSLWDPAS | PAPTSGPRPR | LWEGQDVLAR | WTDGLLYLGT | IKKVDSAREV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CLVQFEDDSQ | FLVLWKDISP | AALPGEELLC | CVCRSETVVP | GNRLVSCEKC | RHAYHQDCHV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PRAPAPGEGE | GTSWVCRQCV | FAIATKRGGA | LKKGPYARAM | LGMKLSLPYG | LKGLDWDAGH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LSNRQQSYCY | CGGPGEWNLK | MLQCRSCLQW | FHEACTQCLS | KPLLYGDRFY | EFECCVCRGG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PEKVRRLQLR | WVDVAHLVLY | HLSVCCKKKY | FDFDREILPF | TSENWDSLLL | GELSDTPKGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RSSRLLSALN | SHKDRFISGR | EIKKRKCLFG | LHARMPPPVE | PPTGDGALTS | FPSGQGPGGG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VSRPLGKRRR | PEPEPLRRRQ | KGKVEELGPP | SAVRNQPEPQ | EQRERAHLQR | ALQASVSPPS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PSPNQSYQGS | SGYNFRPTDA | RCLPSSPIRM | FASFHPSAST | AGTSGDSGPP | DRSPLELHIG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FPTDIPKSAP | HSMTASSSSV | SSPSPGLPRR | SAPPSPLCRS | LSPGTGGGVR | GGVGYLSRGD |
| 550 | 560 | ||||
| PVRVLARRVR | PDGSVQYLVE | WGGGGIF |