O00308
Gene name |
WWP2 |
Protein name |
NEDD4-like E3 ubiquitin-protein ligase WWP2 |
Names |
Atrophin-1-interacting protein 2, AIP2, HECT-type E3 ubiquitin transferase WWP2, WW domain-containing protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11060 |
EC number |
2.3.2.26: Aminoacyltransferases |
Protein Class |
HECT DOMAIN UBIQUITIN-PROTEIN LIGASE (PTHR11254) |

Descriptions
The C2-WW-HECT-domain E3 proteins downregulates transforming growth factor-β (TGF-β) signaling by targeting itself, the adaptor protein Smad7, and TGF-β receptor kinases for degradation. Like Smurf2, which exhibits the inhibitory C2 and HECT domain interaction, the full-length WWP2 enzyme shows low ubiquitination levels by the C2 domain. The level is significantly enhanced by deleting C2 domain.
Autoinhibitory domains (AIDs)
Target domain |
516-868 (HECT domain) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Structural analysis |
Accessory elements
No accessory elements
References
- Mund T et al. (2009) "Control of the activity of WW-HECT domain E3 ubiquitin ligases by NDFIP proteins", EMBO reports, 10, 501-7
- Wiesner S et al. (2007) "Autoinhibition of the HECT-type ubiquitin ligase Smurf2 through its C2 domain", Cell, 130, 651-62
- Tsunoda T et al. (2022) "ENTREP/FAM189A2 encodes a new ITCH ubiquitin ligase activator that is downregulated in breast cancer", EMBO reports, 23, e51182
- Chen Z et al. (2017) "A Tunable Brake for HECT Ubiquitin Ligases", Molecular cell, 66, 345-357.e6
- Riling C et al. (2015) "Itch WW Domains Inhibit Its E3 Ubiquitin Ligase Activity by Blocking E2-E3 Ligase Trans-thiolation", The Journal of biological chemistry, 290, 23875-87
- Wang Z et al. (2019) "A multi-lock inhibitory mechanism for fine-tuning enzyme activities of the HECT family E3 ligases", Nature communications, 10, 3162
- Zhu K et al. (2017) "Allosteric auto-inhibition and activation of the Nedd4 family E3 ligase Itch", EMBO reports, 18, 1618-1630
Autoinhibited structure
Activated structure
11 structures for O00308
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
4Y07 | X-ray | 251 A | A | 492-865 | PDB |
5TJ7 | X-ray | 260 A | A/B/C/D | 334-865 | PDB |
5TJ8 | X-ray | 230 A | A | 334-865 | PDB |
5TJQ | X-ray | 275 A | A | 334-865 | PDB |
6J1Z | X-ray | 270 A | PDB | ||
6RSS | NMR | - | A | 438-480 | PDB |
8EI5 | X-ray | 260 A | A/B/C/D | 492-865 | PDB |
8EI6 | X-ray | 362 A | A/B | 492-865 | PDB |
8EI7 | X-ray | 222 A | A/B | 492-865 | PDB |
8EI8 | X-ray | 290 A | A | 492-865 | PDB |
AF-O00308-F1 | Predicted | AlphaFoldDB |
669 variants for O00308
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1364451433 CA396494357 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1453271755 CA396494370 |
3 | S>F | No |
ClinGen gnomAD |
|
CA8136908 rs778621819 |
4 | A>V | No |
ClinGen ExAC gnomAD |
|
rs936547731 CA283364272 |
5 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA8136909 rs752367875 |
6 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8136910 rs752367875 |
6 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8136913 rs746503953 |
8 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746503953 CA8136912 |
8 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs142617495 CA8136911 |
8 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1353048537 CA396494440 |
11 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA396494467 rs1382186978 |
13 | L>P | No |
ClinGen TOPMed |
|
CA396494470 rs1337273288 |
14 | P>T | No |
ClinGen TOPMed |
|
CA8136914 rs150528209 |
17 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746313358 CA8136915 |
19 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs892120436 CA396494535 |
19 | Q>L | No |
ClinGen gnomAD |
|
rs892120436 CA283364322 |
19 | Q>P | No |
ClinGen gnomAD |
|
rs770299956 CA8136916 |
22 | L>M | No |
ClinGen ExAC gnomAD |
|
rs1185929185 CA396494587 |
24 | V>M | No |
ClinGen gnomAD |
|
rs1567671817 CA396496686 |
25 | V>A | No |
ClinGen Ensembl |
|
CA396496702 rs1181677264 |
27 | A>T | No |
ClinGen TOPMed |
|
rs1480491390 CA396496766 |
30 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA396496779 rs1177901288 |
31 | V>E | No |
ClinGen gnomAD |
|
rs1597685788 CA396496814 |
33 | N>K | No |
ClinGen Ensembl |
|
CA8136930 rs751094487 |
33 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1036291469 CA283371031 COSM1493757 |
34 | R>C | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
COSM972945 rs756797873 CA396496823 |
34 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs756797873 CA8136931 |
34 | R>P | No |
ClinGen ExAC gnomAD |
|
CA8136933 rs548693533 |
37 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs548693533 CA8136934 |
37 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs143303340 CA8136935 |
37 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8136936 rs143303340 |
37 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA283371051 rs892638537 |
38 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA8136938 rs774635737 |
40 | S>A | No |
ClinGen ExAC |
|
rs1312179363 CA396496979 |
40 | S>F | No |
ClinGen gnomAD |
|
COSM1168824 rs1011375134 CA283371070 |
42 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA8136940 rs140261430 |
45 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8136943 rs765133692 |
47 | D>N | No |
ClinGen ExAC gnomAD |
|
rs372438560 CA8136944 |
49 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8136945 rs150059700 |
50 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA283371125 rs764855295 |
51 | S>I | No |
ClinGen gnomAD |
|
rs764855295 CA396497256 |
51 | S>T | No |
ClinGen gnomAD |
|
rs1432559787 CA396497310 |
53 | T>I | No |
ClinGen gnomAD |
|
COSM242274 rs1166415028 CA396497298 |
53 | T>S | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs763732833 CA8136946 |
54 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA8136947 rs751241119 |
58 | K>R | No |
ClinGen ExAC gnomAD |
|
rs367837270 CA8136948 |
59 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM435637 rs1029698891 CA396497439 |
59 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA283371190 rs1029698891 |
59 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1291907818 CA396497455 |
60 | I>N | No |
ClinGen gnomAD |
|
rs1291907818 CA396497458 |
60 | I>T | No |
ClinGen gnomAD |
|
rs767090543 CA8136949 |
60 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396497492 rs1366961267 |
62 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA396497490 rs1366961267 |
62 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs749921377 CA8136950 |
64 | E>* | No |
ClinGen ExAC |
|
rs756734868 CA8136951 |
68 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1228136849 CA396497626 |
70 | I>F | No |
ClinGen gnomAD |
|
rs780694295 CA8136953 |
70 | I>N | No |
ClinGen ExAC gnomAD |
|
rs780694295 CA8136952 |
70 | I>S | No |
ClinGen ExAC gnomAD |
|
rs779096737 CA8136955 |
72 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779096737 CA8136956 |
72 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8136954 rs755380901 |
72 | I>V | No |
ClinGen ExAC gnomAD |
|
CA8136977 rs777963501 |
74 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1020613769 CA283371509 |
74 | N>S | No |
ClinGen Ensembl |
|
rs375318503 COSM1640539 CA8136978 |
76 | T>M | stomach [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
rs1597686717 CA396497905 |
77 | A>V | No |
ClinGen Ensembl |
|
rs1419895221 CA396497926 |
78 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA8136981 rs749282458 |
79 | S>C | No |
ClinGen ExAC gnomAD |
|
CA396497950 rs1332710332 |
80 | H>N | No |
ClinGen TOPMed |
|
CA396497961 rs1449427768 |
80 | H>R | No |
ClinGen TOPMed |
|
CA396498000 rs1386521134 |
82 | D>G | No |
ClinGen gnomAD |
|
rs768451025 CA8136982 |
83 | L>* | No |
ClinGen ExAC |
|
CA396498063 rs1457217205 |
86 | W>* | No |
ClinGen gnomAD |
|
CA283371529 rs74374911 |
86 | W>G | No |
ClinGen Ensembl |
|
rs761500926 CA396498072 |
87 | S>G | No |
ClinGen ExAC gnomAD |
|
CA8136984 rs761500926 |
87 | S>R | No |
ClinGen ExAC gnomAD |
|
rs771918775 CA8136985 |
87 | S>T | No |
ClinGen ExAC gnomAD |
|
CA396498141 rs1392761618 |
91 | L>F | No |
ClinGen TOPMed |
|
CA8136986 rs773005230 |
93 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1378065797 CA396498218 |
96 | L>P | No |
ClinGen gnomAD |
|
rs981743053 CA283371535 |
97 | G>R | No |
ClinGen Ensembl |
|
rs369381187 CA8136989 |
99 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8136990 rs760137313 |
102 | N>S | No |
ClinGen ExAC gnomAD |
|
CA396498297 rs1444002159 |
105 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs373154084 CA8136991 |
105 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1236671336 CA396498300 |
106 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs758691107 CA8136993 |
110 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1466934089 CA396498348 |
112 | G>C | No |
ClinGen TOPMed |
|
CA8136995 rs375272256 |
112 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8137022 rs377573067 |
114 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
rs777756000 CA8137023 |
115 | E>G | No |
ClinGen ExAC |
|
CA8137024 rs201858298 |
117 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1466679267 CA396496884 |
118 | Q>P | No |
ClinGen gnomAD |
|
CA396496967 rs1207354868 |
122 | N>S | No |
ClinGen gnomAD |
|
rs770773964 CA8137025 |
123 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396496973 rs1445644933 |
123 | L>Q | No |
ClinGen gnomAD |
|
rs776151376 CA8137026 |
124 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137027 rs530023292 |
125 | T>M | No |
ClinGen ExAC gnomAD |
|
rs189041230 CA8137029 |
127 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8137030 rs763493082 |
127 | N>S | No |
ClinGen ExAC gnomAD |
|
CA396497116 rs1313360451 |
129 | G>C | No |
ClinGen Ensembl |
|
CA396497119 rs1318486836 |
129 | G>D | No |
ClinGen gnomAD |
|
CA8137032 rs143354391 |
131 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762164829 CA8137033 |
133 | S>P | No |
ClinGen ExAC gnomAD |
|
CA396497242 rs1289114218 |
135 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs756318143 CA8137036 |
138 | T>K | No |
ClinGen ExAC gnomAD |
|
rs371454354 CA8137037 |
139 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA283385081 rs1045373180 |
142 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs1315198496 CA396497410 COSM95538 |
143 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs939588067 CA283385087 |
144 | P>A | No |
ClinGen TOPMed |
|
CA8137039 rs141633678 |
147 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1169263013 CA396497596 |
150 | N>I | No |
ClinGen TOPMed |
|
rs1028535458 CA283385096 |
153 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA396497659 rs1186436635 |
154 | G>D | No |
ClinGen gnomAD |
|
rs1412186817 CA396497695 |
156 | A>D | No |
ClinGen gnomAD |
|
CA8137041 rs200683787 |
158 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200683787 CA396497716 |
158 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757130733 CA8137042 |
159 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137043 rs757130733 |
159 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396497723 rs1473094766 |
159 | D>H | No |
ClinGen TOPMed |
|
rs1473094766 CA396497720 |
159 | D>N | No |
ClinGen TOPMed |
|
rs759693369 CA8137058 |
160 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA283385695 rs546382050 |
161 | S>L | No |
ClinGen 1000Genomes |
|
CA396498392 rs1307538180 |
164 | P>L | No |
ClinGen gnomAD |
|
CA8137060 rs751563099 |
165 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA283385708 rs887750271 |
168 | S>A | No |
ClinGen Ensembl |
|
CA8137062 rs780890962 |
168 | S>C | No |
ClinGen ExAC gnomAD |
|
CA8137063 rs750211901 |
169 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137064 rs755782083 |
170 | G>R | No |
ClinGen ExAC gnomAD |
|
CA8137065 rs779677207 |
171 | T>R | No |
ClinGen ExAC gnomAD |
|
CA8137066 rs147074353 |
172 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs768171630 CA8137067 |
172 | A>V | No |
ClinGen ExAC TOPMed |
|
rs1202553262 CA396498446 |
174 | A>T | No |
ClinGen gnomAD |
|
rs1250376496 CA396498456 |
175 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs138285985 CA283385737 |
178 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8137070 rs138285985 |
178 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs184547498 CA8137069 |
178 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396498475 rs1432509190 |
179 | H>Y | No |
ClinGen gnomAD |
|
rs1391749884 CA396498487 |
180 | Q>R | No |
ClinGen gnomAD |
|
CA283385748 rs1030160821 |
182 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA8137074 rs768917989 |
183 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1390718988 CA396498513 |
184 | T>R | No |
ClinGen gnomAD |
|
rs759782275 CA8137075 |
185 | N>D | No |
ClinGen ExAC gnomAD |
|
CA396498534 rs765437085 |
187 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765437085 CA8137076 |
187 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1228066849 CA396498547 |
189 | G>A | No |
ClinGen gnomAD |
|
rs1301867941 CA396498551 |
190 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs752795485 CA8137077 |
191 | S>T | No |
ClinGen ExAC gnomAD |
|
CA8137080 rs750253078 |
192 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137079 rs201287506 |
192 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8137100 rs773218849 |
193 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs559742728 CA8137099 |
193 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1457168029 CA396504013 |
196 | H>Y | No |
ClinGen gnomAD |
|
RCV000896577 CA8137103 rs143156114 |
197 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8137105 rs764860976 |
198 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1326512812 CA396504070 |
200 | S>L | No |
ClinGen TOPMed |
|
rs1300726872 CA396504087 |
201 | A>P | No |
ClinGen gnomAD |
|
CA8137106 rs752219825 |
203 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396504157 rs1289664104 |
204 | T>I | No |
ClinGen gnomAD |
|
CA396504144 rs1597087925 |
204 | T>P | No |
ClinGen Ensembl |
|
CA396504164 rs777097298 |
205 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137108 rs777097298 |
205 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1006317101 CA283397418 |
207 | T>A | No |
ClinGen TOPMed |
|
rs1381840572 CA396504199 |
207 | T>I | No |
ClinGen TOPMed |
|
rs1207691765 CA396504206 |
208 | G>D | No |
ClinGen gnomAD |
|
CA8137110 rs757805460 |
208 | G>S | No |
ClinGen ExAC gnomAD |
|
CA8137112 rs746223579 |
209 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770208052 CA8137113 |
210 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA396504257 rs1597088014 |
211 | S>G | No |
ClinGen Ensembl |
|
CA396504287 rs1192320841 |
212 | P>A | No |
ClinGen TOPMed |
|
rs1215595478 CA396504296 |
213 | G>A | No |
ClinGen TOPMed |
|
CA283397466 rs371719288 |
213 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8137115 rs371719288 |
213 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396504614 rs1192305533 |
214 | A>V | No |
ClinGen gnomAD |
|
rs139932753 CA396504619 |
215 | R>P | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs139932753 CA8137117 |
215 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs145994314 CA8137116 |
215 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1374545787 CA396504648 |
217 | R>L | No |
ClinGen gnomAD |
|
CA396504646 rs1374545787 |
217 | R>Q | No |
ClinGen gnomAD |
|
CA8137118 COSM130234 rs760710036 |
217 | R>W | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1429963947 CA396504658 |
218 | H>P | No |
ClinGen gnomAD |
|
CA396504660 rs1429963947 |
218 | H>R | No |
ClinGen gnomAD |
|
CA8137119 rs766287861 |
219 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776475086 CA8137120 |
219 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396504702 rs755244675 |
222 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137122 rs755244675 |
222 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1454177746 CA396504717 |
223 | K>R | No |
ClinGen TOPMed |
|
CA396504732 rs1309427340 |
224 | N>S | No |
ClinGen gnomAD |
|
rs113797383 CA8137124 |
226 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA396504751 rs1343185158 |
226 | G>S | No |
ClinGen gnomAD |
|
CA396504759 rs113797383 |
226 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763698650 CA8137125 |
227 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396504779 rs1437321375 |
228 | S>N | No |
ClinGen gnomAD |
|
CA8137127 rs369812987 |
229 | G>D | No |
ClinGen ExAC gnomAD |
|
CA8137126 rs751010011 |
229 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA283397523 rs369812987 |
229 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1000823195 CA283397527 |
230 | L>F | No |
ClinGen gnomAD |
|
CA396504799 rs1477324474 |
230 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1477324474 CA396504801 |
230 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs781763876 CA8137128 |
231 | A>T | No |
ClinGen ExAC gnomAD |
|
rs756561198 CA8137130 |
232 | N>K | No |
ClinGen ExAC gnomAD |
|
CA8137129 rs568343453 |
232 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1393786323 CA396504855 |
234 | T>A | No |
ClinGen gnomAD |
|
rs1265732945 CA396504860 |
234 | T>I | No |
ClinGen TOPMed |
|
rs369653281 CA8137149 |
236 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs755292551 CA8137150 |
237 | D>V | No |
ClinGen ExAC gnomAD |
|
CA8137151 rs779004802 |
238 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1008899250 CA283407957 |
238 | E>K | No |
ClinGen Ensembl |
|
rs965886448 CA283407958 |
239 | P>L | No |
ClinGen TOPMed |
|
rs1269334349 CA396507639 |
240 | T>K | No |
ClinGen TOPMed gnomAD |
|
rs1269334349 CA396507641 |
240 | T>R | No |
ClinGen TOPMed gnomAD |
|
rs748307426 CA8137152 |
241 | T>P | No |
ClinGen ExAC gnomAD |
|
CA8137153 rs182311713 |
242 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs182311713 CA8137154 |
242 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs745845066 CA8137155 |
243 | T>A | No |
ClinGen ExAC gnomAD |
|
CA396507697 rs1446112161 |
243 | T>I | No |
ClinGen gnomAD |
|
rs1238783413 CA396507710 |
244 | D>H | No |
ClinGen gnomAD |
|
CA8137158 rs762653214 |
246 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137159 rs768433959 |
247 | E>A | No |
ClinGen ExAC gnomAD |
|
rs1597112421 CA396507802 |
248 | P>L | No |
ClinGen Ensembl |
|
CA8137161 COSM435638 rs139052693 |
250 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs867582987 CA283408022 |
251 | V>F | No |
ClinGen Ensembl |
|
rs910129729 CA396507940 |
252 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs910129729 CA283408038 |
252 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs143752055 CA283408059 |
254 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs143752055 CA8137163 |
254 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1336404262 CA396507988 |
254 | T>S | No |
ClinGen gnomAD |
|
rs1289060705 CA396508021 |
256 | P>A | No |
ClinGen gnomAD |
|
CA8137165 rs766785766 |
256 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766785766 CA396508026 |
256 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754301169 CA8137166 |
257 | P>S | No |
ClinGen ExAC gnomAD |
|
CA283408089 rs937621004 |
258 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA396508063 rs937621004 |
258 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA8137168 rs765584431 |
262 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396508171 rs1311491028 |
263 | V>M | No |
ClinGen TOPMed |
|
CA396508222 rs1186655507 |
264 | T>N | No |
ClinGen gnomAD |
|
COSM1379258 rs78426175 CA8137171 |
265 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA283408116 rs950225565 |
266 | N>K | No |
ClinGen TOPMed |
|
rs756144699 CA8137173 |
266 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1400121864 CA396508275 |
266 | N>Y | No |
ClinGen TOPMed |
|
CA283408118 rs977924804 |
268 | N>Y | No |
ClinGen Ensembl |
|
CA396508355 rs1466372901 |
269 | T>M | No |
ClinGen gnomAD |
|
rs1220211533 CA396508396 |
271 | S>F | No |
ClinGen gnomAD |
|
CA396508394 rs1220211533 |
271 | S>Y | No |
ClinGen gnomAD |
|
rs749192267 CA8137175 |
272 | L>F | No |
ClinGen ExAC gnomAD |
|
CA396508406 rs1434304344 |
272 | L>P | No |
ClinGen gnomAD |
|
CA283408140 rs1034726261 |
273 | P>H | No |
ClinGen Ensembl |
|
rs1177327813 CA396508472 |
275 | P>L | No |
ClinGen TOPMed |
|
rs1352426825 CA396508458 |
275 | P>S | No |
ClinGen gnomAD |
|
CA8137177 rs199723151 |
277 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs372589501 CA8137179 |
278 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
CA396508521 rs1306936044 |
278 | P>S | No |
ClinGen gnomAD |
|
rs777023336 CA8137183 |
279 | A>G | No |
ClinGen ExAC gnomAD |
|
rs544471484 CA8137182 |
279 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs760045066 CA8137184 |
281 | G>R | No |
ClinGen ExAC gnomAD |
|
CA396508624 rs1274864425 |
282 | E>G | No |
ClinGen gnomAD |
|
CA8137185 rs765629014 |
283 | E>A | No |
ClinGen ExAC gnomAD |
|
rs753038154 CA8137186 |
284 | P>S | No |
ClinGen ExAC gnomAD |
|
rs201890122 CA8137187 |
285 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1597112795 CA396508713 |
286 | T>P | No |
ClinGen Ensembl |
|
rs751715302 CA8137189 |
287 | S>L | No |
ClinGen ExAC gnomAD |
|
CA8137188 rs764294633 |
287 | S>P | No |
ClinGen ExAC gnomAD |
|
CA396508773 rs1453516649 |
288 | G>V | No |
ClinGen gnomAD |
|
CA8137191 rs781284452 |
289 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1372582333 CA396508802 |
290 | Q>E | No |
ClinGen gnomAD |
|
rs74460098 CA283408203 |
291 | Q>P | No |
ClinGen TOPMed gnomAD |
|
rs74460098 CA396508845 |
291 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA8137192 rs749215554 |
294 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749215554 COSM1232887 CA8137193 |
294 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1389011806 CA396508953 |
296 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs778905446 CA8137196 |
296 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778905446 CA283408218 |
296 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389011806 CA396508949 |
296 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1324411732 CA396508958 |
297 | Q>* | No |
ClinGen gnomAD |
|
rs747946536 CA396508959 |
297 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747946536 CA8137197 |
297 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137198 rs771920744 |
298 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1309973526 CA396508972 |
298 | A>T | No |
ClinGen TOPMed |
|
CA8137201 rs770374654 |
300 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137202 rs770374654 |
300 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770269846 CA8137204 |
301 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1567408798 CA396509059 |
301 | A>V | No |
ClinGen Ensembl |
|
CA283408246 rs113481675 |
302 | L>P | No |
ClinGen Ensembl |
|
rs775898714 CA396509075 |
302 | L>V | No |
ClinGen ExAC gnomAD |
|
rs920861841 CA283408255 |
304 | A>P | No |
ClinGen Ensembl |
|
rs777668170 CA8137218 |
308 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396511038 rs1206211338 |
309 | R>* | No |
ClinGen gnomAD |
|
CA8137219 rs746677032 |
309 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137222 rs141794731 |
313 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8137224 rs775990884 |
314 | G>R | No |
ClinGen ExAC gnomAD |
|
CA8137225 rs377619443 |
315 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs769042617 CA8137226 |
315 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137227 rs774748100 |
317 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774748100 CA396511255 |
317 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761993448 CA8137228 |
322 | N>D | No |
ClinGen ExAC gnomAD |
|
rs562325074 CA8137229 |
324 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396511488 rs1307796678 |
324 | K>R | No |
ClinGen TOPMed |
|
CA396511506 rs1368724214 |
325 | T>S | No |
ClinGen TOPMed |
|
rs1241086924 CA396511594 |
328 | W>C | No |
ClinGen gnomAD |
|
rs1290872650 CA396511585 |
328 | W>S | No |
ClinGen gnomAD |
|
rs766514705 CA8137233 |
330 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766514705 COSM1232885 CA8137232 |
330 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA8137231 rs529312655 |
330 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs758377169 CA8137234 |
332 | L>F | No |
ClinGen ExAC gnomAD |
|
CA396511693 rs1314915081 |
334 | P>A | No |
ClinGen gnomAD |
|
rs1206637433 CA396513934 COSM972947 |
339 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA396513936 rs1231745895 |
339 | R>H | No |
ClinGen gnomAD |
|
rs755734366 CA8137261 |
341 | D>G | No |
ClinGen ExAC gnomAD |
|
CA396513982 rs983095247 |
343 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs983095247 CA283382877 |
343 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs367812535 CA8137262 |
343 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396513991 rs1452919157 |
344 | G>R | No |
ClinGen gnomAD |
|
CA396514013 rs1171368651 |
345 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA396514057 rs1330302815 |
348 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs1330302815 CA396514056 |
348 | Y>F | No |
ClinGen TOPMed gnomAD |
|
CA8137264 rs755506667 |
348 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs748549161 CA8137266 |
349 | V>M | No |
ClinGen ExAC |
|
CA8137267 rs772514474 |
352 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1372947769 CA396514114 |
354 | R>Q | No |
ClinGen gnomAD |
|
CA8137268 rs773413103 |
354 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA283382906 rs552329158 |
356 | T>I | No |
ClinGen Ensembl |
|
CA8137270 rs371532664 |
360 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371532664 CA8137269 |
360 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776915745 CA8137271 |
360 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374069767 CA8137272 |
361 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8137275 rs761615562 |
363 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1222991739 CA396514169 |
363 | A>V | No |
ClinGen gnomAD |
|
rs767387248 CA8137276 |
364 | E>D | No |
ClinGen ExAC gnomAD |
|
rs147694100 CA8137279 |
366 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8137280 rs766017753 |
367 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1416798576 CA396514196 |
368 | N>D | No |
ClinGen gnomAD |
|
rs1408819627 CA396514199 |
368 | N>S | No |
ClinGen gnomAD |
|
rs1165564009 CA396514204 |
369 | Y>H | No |
ClinGen gnomAD |
|
rs1597157907 CA396514246 |
374 | S>A | No |
ClinGen Ensembl |
|
rs753426948 CA8137281 |
374 | S>L | No |
ClinGen ExAC gnomAD |
|
rs753283106 CA8137284 |
375 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA8137286 rs778337264 |
376 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs758807244 CA8137285 |
376 | R>W | No |
ClinGen ExAC gnomAD |
|
CA8137287 rs372845231 |
378 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1338830426 CA396514278 |
379 | L>P | No |
ClinGen gnomAD |
|
CA396514285 rs1597157960 |
380 | Q>L | No |
ClinGen Ensembl |
|
rs771352727 CA8137289 |
381 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771352727 CA8137288 |
381 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA283382962 rs867498351 |
382 | A>V | No |
ClinGen Ensembl |
|
CA396514305 rs1157206656 |
383 | M>I | No |
ClinGen TOPMed |
|
rs971014815 CA283382966 |
384 | Q>H | No |
ClinGen TOPMed |
|
rs1386239465 CA396514336 |
387 | S>R | No |
ClinGen TOPMed |
|
rs1163422954 CA396514343 |
388 | Q>H | No |
ClinGen TOPMed |
|
rs746038424 CA8137290 |
390 | F>C | No |
ClinGen ExAC gnomAD |
|
CA396514370 rs1213501184 |
392 | Y>F | No |
ClinGen gnomAD |
|
CA8137292 rs200857360 |
393 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1187147018 CA396515126 |
394 | S>F | No |
ClinGen gnomAD |
|
rs749326066 CA8137311 |
394 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773149907 CA8137313 |
395 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137312 rs768658691 |
395 | S>P | No |
ClinGen ExAC gnomAD |
|
CA283385940 rs891887656 COSM417299 |
398 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1435545957 CA396515193 |
399 | T>I | No |
ClinGen gnomAD |
|
CA8137316 rs776384837 |
400 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137317 rs143999663 |
401 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764790347 CA8137318 |
403 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1424717017 CA396515253 |
403 | P>L | No |
ClinGen gnomAD |
|
CA8137319 rs752326277 |
405 | G>D | No |
ClinGen ExAC gnomAD |
|
CA396515286 rs1237418760 |
406 | P>A | No |
ClinGen gnomAD |
|
rs1279302871 CA396515294 COSM1709334 |
406 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs201105755 CA283385954 |
407 | L>F | No |
ClinGen gnomAD |
|
COSM3818382 CA283385957 rs751603209 |
409 | P>A | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs1295794733 CA396516290 |
412 | E>V | No |
ClinGen gnomAD |
|
rs1566452 CA396516299 |
413 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA396516300 rs1566452 |
413 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA396516303 rs1224537283 |
414 | R>K | No |
ClinGen gnomAD |
|
CA396516312 rs1334090940 |
415 | Q>R | No |
ClinGen TOPMed |
|
CA8137351 rs758404167 |
416 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137352 rs199513055 |
418 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8137354 rs769507581 |
419 | R>L | No |
ClinGen ExAC gnomAD |
|
CA8137355 rs769507581 |
419 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs745580617 CA8137353 |
419 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768411191 CA8137357 |
420 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768411191 CA396516338 |
420 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761414227 CA8137359 |
422 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA396516358 rs773617409 |
423 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137361 rs773617409 |
423 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA283390575 rs527319187 |
426 | N>S | No |
ClinGen 1000Genomes |
|
CA396516394 rs1163346636 |
428 | R>C | No |
ClinGen gnomAD |
|
CA8137362 rs779707234 |
428 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779707234 CA8137363 |
428 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396516423 rs1289099681 |
432 | W>C | No |
ClinGen gnomAD |
|
rs1039810522 CA283390579 |
433 | E>G | No |
ClinGen TOPMed |
|
CA8137365 rs759817643 |
436 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs904083638 CA283390581 |
436 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs759817643 CA396516446 |
436 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396516450 rs1356061661 |
437 | T>A | No |
ClinGen gnomAD |
|
CA396516499 rs1297452854 |
442 | Q>* | No |
ClinGen TOPMed |
|
rs780046309 CA8137392 |
445 | A>P | No |
ClinGen ExAC gnomAD |
|
CA283390811 rs1002396463 |
448 | P>R | No |
ClinGen Ensembl |
|
CA8137394 rs754845564 |
448 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1215003538 CA396516544 |
449 | G>A | No |
ClinGen TOPMed |
|
CA8137395 rs369279393 |
456 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8137397 rs77786756 |
457 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8137398 rs777211564 |
459 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746530540 COSM304460 CA8137399 |
460 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA8137400 rs770286512 |
466 | N>S | No |
ClinGen ExAC gnomAD |
|
rs777143460 CA8137401 |
468 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759088222 CA8137402 |
468 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1207279224 CA396516678 |
469 | T>S | No |
ClinGen gnomAD |
|
rs1457646885 CA396516727 |
476 | R>C | No |
ClinGen gnomAD |
|
rs1194651524 CA396516728 |
476 | R>H | No |
ClinGen gnomAD |
|
COSM3795062 rs372517256 CA8137403 |
477 | P>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA8137405 rs762597985 |
479 | F>C | No |
ClinGen ExAC gnomAD |
|
rs370457139 CA8137406 |
480 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8137408 rs761794916 |
481 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs144932234 CA8137407 |
481 | S>T | No |
ClinGen ESP ExAC |
|
rs138661773 CA8137426 COSM435640 |
483 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs761550151 CA8137427 |
485 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs767519385 CA396516801 |
486 | G>D | No |
ClinGen ExAC gnomAD |
|
CA8137428 rs767519385 |
486 | G>V | No |
ClinGen ExAC gnomAD |
|
CA396516814 rs1337105711 |
488 | P>R | No |
ClinGen gnomAD |
|
CA396516809 rs1333168819 |
488 | P>T | No |
ClinGen gnomAD |
|
COSM3771996 rs759626310 CA8137430 |
490 | A>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA283391208 rs1035707027 |
493 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs752781641 CA8137432 |
494 | S>N | No |
ClinGen ExAC gnomAD |
|
CA396516858 rs1260439318 |
495 | F>C | No |
ClinGen gnomAD |
|
rs1260439318 CA396516859 |
495 | F>S | No |
ClinGen gnomAD |
|
rs758627189 CA8137433 |
496 | R>Q | No |
ClinGen ExAC gnomAD |
|
COSM972950 rs1477186513 CA396516863 |
496 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1464979922 CA396516879 |
498 | K>R | No |
ClinGen TOPMed |
|
rs751914087 CA8137435 |
501 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA396516909 rs1402684742 |
502 | F>Y | No |
ClinGen gnomAD |
|
CA8137437 rs781621999 |
503 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1359990568 CA396516916 |
503 | R>H | No |
ClinGen gnomAD |
|
CA396516941 rs1415417387 |
507 | H>Y | No |
ClinGen gnomAD |
|
CA8137470 rs777692533 |
509 | N>T | No |
ClinGen ExAC gnomAD |
|
CA396516978 rs1175703711 |
510 | A>V | No |
ClinGen gnomAD |
|
CA283391406 rs985519428 |
512 | P>L | No |
ClinGen Ensembl |
|
CA396517006 rs763033318 |
515 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763033318 CA8137474 |
515 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774557900 CA8137476 |
518 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137475 rs768622976 |
518 | S>R | No |
ClinGen ExAC gnomAD |
|
CA8137479 rs750753479 |
519 | V>A | No |
ClinGen ExAC gnomAD |
|
CA8137478 rs767774692 |
519 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA283391414 rs111926603 COSM1679231 |
520 | S>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs761056397 CA8137480 |
523 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137481 rs766857670 |
523 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761056397 CA396517056 |
523 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137483 rs754439907 |
524 | L>P | No |
ClinGen ExAC gnomAD |
|
rs913146723 CA283391420 |
526 | E>K | No |
ClinGen gnomAD |
|
rs945994238 CA283391423 |
529 | F>V | No |
ClinGen Ensembl |
|
rs567331277 CA8137485 |
530 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1567441417 CA396517108 |
531 | Q>* | No |
ClinGen Ensembl |
|
rs779996006 CA8137510 |
532 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748174440 CA8137511 |
533 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs938389762 CA283391542 |
535 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA8137512 rs772150301 |
536 | K>* | No |
ClinGen ExAC gnomAD |
|
CA396517162 rs1597180587 |
536 | K>N | No |
ClinGen Ensembl |
|
CA396517171 rs1372022508 |
538 | Y>H | No |
ClinGen Ensembl |
|
rs1487384539 CA396517178 |
539 | D>N | No |
ClinGen gnomAD |
|
rs773352487 CA8137514 |
540 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs577656898 CA8137515 |
541 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs776834403 CA8137516 |
541 | R>H | No |
ClinGen ExAC gnomAD |
|
CA396517196 rs1180568357 |
542 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA8137517 rs139105338 |
542 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139105338 CA396517197 |
542 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs765616095 CA8137518 |
543 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1419974931 CA396517200 |
543 | R>W | No |
ClinGen gnomAD |
|
CA396517203 rs1417398271 |
544 | L>I | No |
ClinGen gnomAD |
|
CA283391566 rs372083781 |
545 | Y>C | No |
ClinGen Ensembl |
|
CA396517220 rs1376045181 |
546 | I>N | No |
ClinGen gnomAD |
|
rs1157494803 CA396517217 |
546 | I>V | No |
ClinGen gnomAD |
|
CA283391567 rs945746204 COSM286553 |
549 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA8137520 rs762488499 |
549 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763693568 CA8137521 |
551 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396517267 rs1184705274 |
553 | G>D | No |
ClinGen TOPMed |
|
rs1251666016 CA396517294 |
557 | G>E | No |
ClinGen TOPMed |
|
CA8137523 rs756837378 |
559 | I>V | No |
ClinGen ExAC gnomAD |
|
rs202095634 COSM1519751 CA8137525 |
560 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs202095634 CA8137526 |
560 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396517315 rs1208639902 |
561 | R>K | No |
ClinGen gnomAD |
|
CA396517351 rs1597185119 |
564 | F>V | No |
ClinGen Ensembl |
|
rs1018000193 CA283392418 |
565 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs2270841 CA396517387 |
569 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA396517383 rs1466567410 |
569 | H>Y | No |
ClinGen gnomAD |
|
CA8137580 rs770525394 |
575 | M>T | No |
ClinGen ExAC gnomAD |
|
rs371834471 CA283392421 |
577 | C>S | No |
ClinGen ESP gnomAD |
|
rs866546819 CA283392425 |
582 | A>V | No |
ClinGen Ensembl |
|
CA8137585 rs775208468 |
583 | G>E | No |
ClinGen ExAC gnomAD |
|
CA8137584 rs190041711 |
583 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs762925299 CA8137586 |
584 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1324848295 CA396517502 |
586 | N>D | No |
ClinGen TOPMed |
|
rs763978892 CA8137587 |
586 | N>S | No |
ClinGen ExAC gnomAD |
|
rs78843422 CA283392432 |
587 | Y>S | No |
ClinGen Ensembl |
|
CA396517518 rs1218033615 |
588 | C>Y | No |
ClinGen TOPMed |
|
CA283392438 rs201620630 |
592 | N>K | No |
ClinGen 1000Genomes |
|
rs1597185294 CA396517546 |
592 | N>T | No |
ClinGen Ensembl |
|
rs1430848532 CA396517552 |
593 | P>S | No |
ClinGen Ensembl |
|
rs1296550431 CA396517587 |
598 | N>K | No |
ClinGen gnomAD |
|
CA8137592 rs755314912 COSM1679232 |
599 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA396517591 rs1433908388 |
599 | P>S | No |
ClinGen gnomAD |
|
rs748506233 CA8137594 |
601 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs758903595 CA8137595 |
602 | L>I | No |
ClinGen ExAC gnomAD |
|
CA8137596 rs778168809 |
604 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs565065326 CA8137597 |
606 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs565065326 CA396517635 |
606 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137599 rs776194189 |
606 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs565065326 CA8137598 |
606 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1360737507 CA396517672 |
611 | F>L | No |
ClinGen gnomAD |
|
rs1324982324 CA396517676 |
612 | I>V | No |
ClinGen gnomAD |
|
CA8137600 rs745507601 |
613 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779594319 CA8137619 |
615 | A>V | No |
ClinGen ExAC gnomAD |
|
rs200119284 CA8137623 |
620 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776819186 CA8137625 |
623 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137627 rs765444857 |
624 | T>M | No |
ClinGen ExAC gnomAD |
|
COSM233780 rs764431749 CA8137630 |
628 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs746439395 CA396517828 |
633 | R>G | No |
ClinGen ExAC gnomAD |
|
rs757731089 CA8137632 |
633 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137631 rs746439395 |
633 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1160174950 CA396517833 |
634 | M>L | No |
ClinGen TOPMed |
|
CA8137634 rs749901201 |
636 | N>S | No |
ClinGen ExAC gnomAD |
|
CA8137635 rs755590878 |
641 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1382282163 CA396517901 |
644 | L>V | No |
ClinGen gnomAD |
|
rs1406329153 CA396517939 |
649 | P>L | No |
ClinGen TOPMed |
|
CA8137641 rs747991829 |
652 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs1351517836 CA396517957 |
652 | Y>H | No |
ClinGen gnomAD |
|
CA396517973 rs1257087320 |
654 | S>P | No |
ClinGen gnomAD |
|
CA396518010 rs1484483718 |
659 | K>R | No |
ClinGen gnomAD |
|
CA8137662 rs746911936 |
662 | N>H | No |
ClinGen ExAC gnomAD |
|
rs1370625621 CA396518046 |
662 | N>S | No |
ClinGen TOPMed |
|
rs770953604 CA8137663 |
663 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137664 rs775403071 |
665 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137665 rs749418137 |
665 | E>V | No |
ClinGen ExAC gnomAD |
|
rs768819897 CA8137666 |
666 | C>R | No |
ClinGen ExAC gnomAD |
|
rs774571665 CA8137667 |
666 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137668 rs551616659 |
667 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1246787362 CA396518077 |
667 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs767862694 CA396518113 |
673 | I>F | No |
ClinGen ExAC gnomAD |
|
rs767862694 CA396518112 |
673 | I>L | No |
ClinGen ExAC gnomAD |
|
rs767862694 CA8137669 |
673 | I>V | No |
ClinGen ExAC gnomAD |
|
CA8137671 rs761063633 |
676 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396518137 rs1478046533 |
676 | M>T | No |
ClinGen gnomAD |
|
CA8137670 rs773683409 |
676 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137672 rs766945833 |
677 | E>A | No |
ClinGen ExAC gnomAD |
|
rs1409644973 CA396518146 |
677 | E>D | No |
ClinGen gnomAD |
|
CA8137673 rs753243617 |
678 | I>T | No |
ClinGen ExAC gnomAD |
|
CA8137674 rs371214769 |
683 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs117637107 CA8137678 |
686 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs117637107 COSM249421 CA8137677 |
686 | E>Q | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1195214760 CA396518209 |
688 | K>Q | No |
ClinGen TOPMed |
|
rs1290128886 CA396518231 COSM1232888 |
691 | G>S | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA8137683 rs182111599 |
692 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8137685 rs748356463 |
693 | S>C | No |
ClinGen ExAC gnomAD |
|
rs891536959 CA283393912 |
694 | I>M | No |
ClinGen Ensembl |
|
CA396518259 rs374450870 |
695 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8137686 rs374450870 |
695 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396518258 rs1394965484 |
695 | R>W | No |
ClinGen gnomAD |
|
rs773414786 CA8137687 |
697 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771291958 CA8137689 |
699 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396518291 rs1314202819 |
700 | N>S | No |
ClinGen TOPMed |
|
CA283393944 rs1045505545 |
705 | I>V | No |
ClinGen Ensembl |
|
CA396518337 rs1422063592 |
706 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs936714284 CA283394566 |
711 | W>G | No |
ClinGen TOPMed |
|
CA396518390 rs1400536782 |
712 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA396518403 rs760810777 |
714 | T>N | No |
ClinGen gnomAD |
|
CA283394571 rs760810777 |
714 | T>S | No |
ClinGen gnomAD |
|
CA8137720 rs758516062 |
715 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1567447241 CA396518417 |
717 | V>E | No |
ClinGen Ensembl |
|
CA8137722 COSM23456 rs747244483 |
717 | V>M | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA396518428 rs140980306 |
719 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8137723 rs140980306 |
719 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1222637654 CA396518450 |
722 | K>E | No |
ClinGen gnomAD |
|
rs746270452 CA8137725 |
722 | K>R | No |
ClinGen ExAC gnomAD |
|
CA396518457 rs770375571 |
723 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137726 rs770375571 |
723 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137727 rs776155666 |
724 | F>L | No |
ClinGen ExAC gnomAD |
|
CA283394626 rs918825576 |
725 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA283394627 rs930208605 |
726 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA283394648 rs573540603 |
730 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
CA8137729 rs768209450 |
732 | A>V | No |
ClinGen ExAC gnomAD |
|
rs761502608 CA8137731 |
733 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761502608 CA8137732 |
733 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773789065 CA8137730 |
733 | P>S | No |
ClinGen ExAC gnomAD |
|
rs766242992 CA8137735 |
734 | L>M | No |
ClinGen ExAC gnomAD |
|
CA396518536 rs1597191427 |
736 | W>G | No |
ClinGen Ensembl |
|
CA396518544 rs942902245 |
737 | L>V | No |
ClinGen Ensembl |
|
rs753776280 CA8137737 |
738 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137736 rs753776280 |
738 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs897039134 CA283394679 |
738 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA8137739 rs751634416 |
739 | Y>* | No |
ClinGen ExAC |
|
CA283394688 rs1039747502 |
739 | Y>C | No |
ClinGen gnomAD |
|
rs1567447415 CA396518561 |
740 | F>S | No |
ClinGen Ensembl |
|
rs1011526276 CA283394706 COSM248364 |
742 | E>K | prostate [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs771571733 CA8137767 |
748 | M>V | No |
ClinGen ExAC gnomAD |
|
CA396518646 rs1288097279 |
751 | G>S | No |
ClinGen gnomAD |
|
CA8137769 rs571751303 |
753 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396518668 rs1334898662 |
754 | E>K | No |
ClinGen gnomAD |
|
rs1314714691 CA396518682 |
755 | I>M | No |
ClinGen Ensembl |
|
CA396518686 rs1382210674 |
756 | D>A | No |
ClinGen gnomAD |
|
rs770613073 CA283395049 |
757 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137771 rs776450176 |
757 | M>T | No |
ClinGen ExAC gnomAD |
|
CA8137770 rs770613073 |
757 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA283395061 rs201469783 |
758 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs144843054 CA8137773 COSM1232886 |
759 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA8137774 rs775294892 |
763 | S>N | No |
ClinGen ExAC gnomAD |
|
rs760947004 CA8137778 |
767 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8137777 rs370632943 |
767 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8137779 rs766540283 |
768 | H>D | No |
ClinGen ExAC gnomAD |
|
rs1378003553 CA396518773 |
768 | H>Q | No |
ClinGen gnomAD |
|
rs1335017877 CA396518786 |
770 | T>S | No |
ClinGen gnomAD |
|
rs1447729912 CA396518799 |
772 | N>S | No |
ClinGen gnomAD |
|
CA8137782 rs35059847 |
777 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1475609729 CA396518898 |
783 | V>A | No |
ClinGen gnomAD |
|
CA283396108 rs1047298531 |
784 | K>E | No |
ClinGen TOPMed |
|
rs1417602300 CA396518903 |
784 | K>R | No |
ClinGen gnomAD |
|
COSM4129250 rs756764558 CA8137805 |
786 | M>I | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs751012894 CA8137804 |
786 | M>V | No |
ClinGen ExAC gnomAD |
|
CA396518938 rs1303014286 |
789 | E>K | No |
ClinGen gnomAD |
|
CA8137807 rs745497802 |
790 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1433321532 CA396518955 |
791 | R>K | No |
ClinGen gnomAD |
|
rs1271618789 CA396518959 |
791 | R>S | No |
ClinGen gnomAD |
|
CA396518962 rs1359454696 |
792 | I>F | No |
ClinGen gnomAD |
|
CA8137808 rs562949092 |
792 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs138762665 CA8137809 |
793 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396518982 rs1360898968 |
796 | Q>* | No |
ClinGen gnomAD |
|
CA396518989 rs1597194987 |
797 | F>V | No |
ClinGen Ensembl |
|
CA396519002 rs1339911152 |
799 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs867930821 CA283396127 |
800 | G>S | No |
ClinGen Ensembl |
|
CA396519024 rs1447407789 |
802 | C>Y | No |
ClinGen gnomAD |
|
CA8137813 rs747018644 |
803 | R>C | No |
ClinGen ExAC gnomAD |
|
rs770910169 CA8137814 |
803 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1475229008 CA396519038 |
805 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA8137816 rs759653665 |
806 | V>F | No |
ClinGen ExAC gnomAD |
|
CA8137817 COSM1270550 rs759653665 |
806 | V>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA283396181 rs779760708 |
807 | G>E | No |
ClinGen gnomAD |
|
CA8137819 rs763322178 |
807 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763322178 CA396519047 |
807 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764519328 CA8137820 |
808 | G>E | No |
ClinGen ExAC gnomAD |
|
CA8137821 rs764519328 |
808 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1344906971 CA396519065 |
810 | A>D | No |
ClinGen TOPMed gnomAD |
|
CA396519064 rs1316720678 |
810 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA8137824 rs749992969 |
811 | E>D | No |
ClinGen ExAC |
|
COSM972953 CA8137823 rs766917559 |
811 | E>K | endometrium breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1013406445 CA283396194 |
812 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA396519082 rs1351344340 |
813 | I>T | No |
ClinGen gnomAD |
|
CA8137825 rs150082808 |
813 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396519085 rs1281894801 |
814 | G>S | No |
ClinGen gnomAD |
|
CA283396385 rs376710523 |
819 | Q>H | No |
ClinGen ESP TOPMed |
|
CA396519151 rs1396438876 |
821 | F>Y | No |
ClinGen TOPMed |
|
CA8137853 rs749493460 |
824 | D>E | No |
ClinGen ExAC gnomAD |
|
CA8137852 rs780169440 |
824 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1343347600 CA396519179 |
825 | K>R | No |
ClinGen gnomAD |
|
rs1597195842 CA396519185 |
826 | V>F | No |
ClinGen Ensembl |
|
rs148043506 CA8137854 |
828 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA396519210 rs1597195867 |
830 | T>P | No |
ClinGen Ensembl |
|
rs774661579 CA8137855 |
831 | W>S | No |
ClinGen ExAC gnomAD |
|
rs773770913 CA8137858 |
834 | R>K | No |
ClinGen ExAC gnomAD |
|
CA8137884 rs763930833 |
840 | N>S | No |
ClinGen ExAC gnomAD |
|
rs751355850 CA8137885 |
841 | R>C | No |
ClinGen ExAC gnomAD |
|
CA396519300 rs1380761859 |
841 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA396519310 rs1403287375 |
843 | D>Y | No |
ClinGen TOPMed |
|
CA396519329 rs1445954315 |
846 | P>A | No |
ClinGen gnomAD |
|
CA396519343 rs1383706620 |
848 | K>E | No |
ClinGen gnomAD |
|
CA8137887 rs574704181 |
849 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1313618431 CA396519356 |
849 | S>R | No |
ClinGen gnomAD |
|
rs755052182 CA8137889 |
851 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1262877955 CA396519374 |
852 | Q>* | No |
ClinGen gnomAD |
|
rs1473692136 CA396519394 |
855 | E>K | No |
ClinGen TOPMed |
|
rs542326585 CA8137894 |
861 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA396519433 rs1253409685 |
861 | I>V | No |
ClinGen gnomAD |
|
rs1451359639 CA396519446 |
863 | E>K | No |
ClinGen gnomAD |
|
rs769333666 CA396519461 |
865 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769333666 CA8137898 |
865 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1392536891 CA396519486 |
868 | G>E | No |
ClinGen gnomAD |
|
CA8137900 rs762638597 |
869 | Q>R | No |
ClinGen ExAC gnomAD |
No associated diseases with O00308
5 regional properties for O00308
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | C2 domain | 1 - 117 | IPR000008 |
domain | HECT domain | 516 - 870 | IPR000569 |
domain | WW domain | 300 - 363 | IPR001202-1 |
domain | WW domain | 405 - 437 | IPR001202-2 |
domain | WW domain | 444 - 477 | IPR001202-3 |
Functions
Description | ||
---|---|---|
EC Number | 2.3.2.26 | Aminoacyltransferases |
Subcellular Localization |
|
|
PANTHER Family | PTHR11254 | HECT DOMAIN UBIQUITIN-PROTEIN LIGASE |
PANTHER Subfamily | PTHR11254:SF396 | NEDD4-LIKE E3 UBIQUITIN-PROTEIN LIGASE WWP2 |
PANTHER Protein Class | ubiquitin-protein ligase | |
PANTHER Pathway Category |
Ubiquitin proteasome pathway E3 |
6 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
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. |
ubiquitin ligase complex | A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex. |
4 GO annotations of molecular function
Name | Definition |
---|---|
RNA polymerase II-specific DNA-binding transcription factor binding | Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription. |
transcription factor binding | Binding to a transcription factor, a protein required to initiate or regulate transcription. |
ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
19 GO annotations of biological process
Name | Definition |
---|---|
extracellular transport | The transport of substances that occurs outside cells. |
negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
negative regulation of gene expression | Any process that decreases 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). |
negative regulation of Notch signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Notch signaling pathway. |
negative regulation of protein transport | Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
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. |
negative regulation of transcription, DNA-templated | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
negative regulation of transporter activity | Any process that stops or reduces the activity of a transporter. |
positive regulation of protein catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
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. |
proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
protein autoubiquitination | The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink. |
protein K63-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is added to a protein. K63-linked ubiquitination does not target the substrate protein for degradation, but is involved in several pathways, notably as a signal to promote error-free DNA postreplication repair. |
protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
regulation of potassium ion transmembrane transporter activity | Any process that modulates the frequency, rate or extent of potassium ion transmembrane transporter activity. |
viral entry into host cell | The process that occurs after viral attachment by which a virus, or viral nucleic acid, breaches the plasma membrane or cell envelope and enters the host cell. The process ends when the viral nucleic acid is released into the host cell cytoplasm. |
23 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P39940 | RSP5 | E3 ubiquitin-protein ligase RSP5 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
Q9V853 | Smurf | E3 ubiquitin-protein ligase Smurf1 | Drosophila melanogaster (Fruit fly) | SS |
Q9Y0H4 | Su(dx) | E3 ubiquitin-protein ligase Su | Drosophila melanogaster (Fruit fly) | SS |
O95817 | BAG3 | BAG family molecular chaperone regulator 3 | Homo sapiens (Human) | PR |
O60861 | GAS7 | Growth arrest-specific protein 7 | Homo sapiens (Human) | PR |
Q9HCE7 | SMURF1 | E3 ubiquitin-protein ligase SMURF1 | Homo sapiens (Human) | PR |
Q9HAU4 | SMURF2 | E3 ubiquitin-protein ligase SMURF2 | Homo sapiens (Human) | EV |
Q9H0M0 | WWP1 | NEDD4-like E3 ubiquitin-protein ligase WWP1 | Homo sapiens (Human) | EV |
Q96J02 | ITCH | E3 ubiquitin-protein ligase Itchy homolog | Homo sapiens (Human) | EV |
Q96PU5 | NEDD4L | E3 ubiquitin-protein ligase NEDD4-like | Homo sapiens (Human) | PR |
P46934 | NEDD4 | E3 ubiquitin-protein ligase NEDD4 | Homo sapiens (Human) | EV |
Q8IYU2 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Homo sapiens (Human) | EV |
P46935 | Nedd4 | E3 ubiquitin-protein ligase NEDD4 | Mus musculus (Mouse) | PR |
Q9CUN6 | Smurf1 | E3 ubiquitin-protein ligase SMURF1 | Mus musculus (Mouse) | PR |
A2A5Z6 | Smurf2 | E3 ubiquitin-protein ligase SMURF2 | Mus musculus (Mouse) | SS |
Q8BZZ3 | Wwp1 | NEDD4-like E3 ubiquitin-protein ligase WWP1 | Mus musculus (Mouse) | SS |
Q60780 | Gas7 | Growth arrest-specific protein 7 | Mus musculus (Mouse) | PR |
Q8C863 | Itch | E3 ubiquitin-protein ligase Itchy | Mus musculus (Mouse) | EV |
Q8CFI0 | Nedd4l | E3 ubiquitin-protein ligase NEDD4-like | Mus musculus (Mouse) | PR |
Q9DBH0 | Wwp2 | NEDD4-like E3 ubiquitin-protein ligase WWP2 | Mus musculus (Mouse) | SS |
Q62940 | Nedd4 | E3 ubiquitin-protein ligase NEDD4 | Rattus norvegicus (Rat) | PR |
Q9N2Z7 | wwp-1 | E3 ubiquitin-protein ligase wwp-1 | Caenorhabditis elegans | SS |
A9JRZ0 | smurf2 | E3 ubiquitin-protein ligase SMURF2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MASASSSRAG | VALPFEKSQL | TLKVVSAKPK | VHNRQPRINS | YVEVAVDGLP | SETKKTGKRI |
70 | 80 | 90 | 100 | 110 | 120 |
GSSELLWNEI | IILNVTAQSH | LDLKVWSCHT | LRNELLGTAS | VNLSNVLKNN | GGKMENMQLT |
130 | 140 | 150 | 160 | 170 | 180 |
LNLQTENKGS | VVSGGELTIF | LDGPTVDLGN | VPNGSALTDG | SQLPSRDSSG | TAVAPENRHQ |
190 | 200 | 210 | 220 | 230 | 240 |
PPSTNCFGGR | SRTHRHSGAS | ARTTPATGEQ | SPGARSRHRQ | PVKNSGHSGL | ANGTVNDEPT |
250 | 260 | 270 | 280 | 290 | 300 |
TATDPEEPSV | VGVTSPPAAP | LSVTPNPNTT | SLPAPATPAE | GEEPSTSGTQ | QLPAAAQAPD |
310 | 320 | 330 | 340 | 350 | 360 |
ALPAGWEQRE | LPNGRVYYVD | HNTKTTTWER | PLPPGWEKRT | DPRGRFYYVD | HNTRTTTWQR |
370 | 380 | 390 | 400 | 410 | 420 |
PTAEYVRNYE | QWQSQRNQLQ | GAMQHFSQRF | LYQSSSASTD | HDPLGPLPPG | WEKRQDNGRV |
430 | 440 | 450 | 460 | 470 | 480 |
YYVNHNTRTT | QWEDPRTQGM | IQEPALPPGW | EMKYTSEGVR | YFVDHNTRTT | TFKDPRPGFE |
490 | 500 | 510 | 520 | 530 | 540 |
SGTKQGSPGA | YDRSFRWKYH | QFRFLCHSNA | LPSHVKISVS | RQTLFEDSFQ | QIMNMKPYDL |
550 | 560 | 570 | 580 | 590 | 600 |
RRRLYIIMRG | EEGLDYGGIA | REWFFLLSHE | VLNPMYCLFE | YAGKNNYCLQ | INPASSINPD |
610 | 620 | 630 | 640 | 650 | 660 |
HLTYFRFIGR | FIAMALYHGK | FIDTGFTLPF | YKRMLNKRPT | LKDLESIDPE | FYNSIVWIKE |
670 | 680 | 690 | 700 | 710 | 720 |
NNLEECGLEL | YFIQDMEILG | KVTTHELKEG | GESIRVTEEN | KEEYIMLLTD | WRFTRGVEEQ |
730 | 740 | 750 | 760 | 770 | 780 |
TKAFLDGFNE | VAPLEWLRYF | DEKELELMLC | GMQEIDMSDW | QKSTIYRHYT | KNSKQIQWFW |
790 | 800 | 810 | 820 | 830 | 840 |
QVVKEMDNEK | RIRLLQFVTG | TCRLPVGGFA | ELIGSNGPQK | FCIDKVGKET | WLPRSHTCFN |
850 | 860 | ||||
RLDLPPYKSY | EQLREKLLYA | IEETEGFGQE |