Q9HCE7
PR
Gene name |
SMURF1 (KIAA1625) |
Protein name |
E3 ubiquitin-protein ligase SMURF1 |
Names |
hSMURF1, HECT-type E3 ubiquitin transferase SMURF1, SMAD ubiquitination regulatory factor 1, SMAD-specific E3 ubiquitin-protein ligase 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57154 |
EC number |
2.3.2.26: Aminoacyltransferases |
Protein Class |
|
Descriptions
(Annotation based on sequence homology with Q9HAU4)
Ubiquitination of proteins is an abundant modification that controls numerous cellular processes. The C2-WW-HECT-domain E3 Smurf2 downregulates transforming growth factor-β (TGF-β) signaling by targeting itself, the adaptor protein Smad7, and TGF-β receptor kinases for degradation. The intramolecular interaction between C2 phospholipid binding domain and HECT domain inhibits the catalytic activity of the HECT domain by obstructing accessibility of the catalytic cysteine of the HECT domain and thus blocking Smurf2-Ub thioester formation. The autoinhibition is relieved by the binding of HECT-binding domain of Smad7.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
479 variants for Q9HCE7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs776787663 CA4363054 |
2 | S>T | No |
ClinGen ExAC |
|
|
CA368418034 rs1289303803 |
3 | N>K | No |
TOPMed ClinGen |
|
|
rs771888369 CA4363053 |
4 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA368418014 rs745638365 |
5 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4363052 rs745638365 |
5 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA368418019 rs892339698 CA163740160 |
5 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA163740159 rs745638365 |
5 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA368417998 rs1304185538 |
7 | R>S | No |
gnomAD ClinGen |
|
|
CA368417969 rs1180685252 |
9 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
CA368417960 rs1364647285 |
10 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4363048 rs777160706 |
13 | I>M | No |
ExAC gnomAD ClinGen |
|
|
rs1420062321 CA368417905 |
14 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs199666284 CA163740158 |
14 | K>T | No |
TOPMed gnomAD ClinGen |
|
|
CA368417847 rs1425643931 |
18 | T>I | No |
TOPMed ClinGen |
|
|
rs1563011898 CA368320730 |
20 | L>S | No |
ClinGen Ensembl |
|
| TCGA novel | 23 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163123290 rs967499719 |
26 | A>E | No |
ClinGen TOPMed |
|
|
rs967499719 CA368320580 |
26 | A>V | No |
ClinGen TOPMed |
|
|
rs1454749817 CA368320561 |
28 | K>E | No |
TOPMed ClinGen |
|
|
rs373315967 CA4362996 |
32 | R>T | No |
ESP ExAC gnomAD ClinGen |
|
| TCGA novel | 36 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368320013 rs756177480 |
42 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756177480 CA4362993 |
42 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA368319936 rs1206027199 |
43 | D>E | No |
gnomAD ClinGen |
|
|
rs752900453 CA4362992 |
43 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
CA4362991 rs767755106 |
47 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA368319746 rs1315134922 |
50 | S>L | No |
gnomAD ClinGen |
|
|
CA4362989 rs750230186 |
51 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA368319721 rs1297643534 |
52 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA368319718 rs1297643534 |
52 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 57 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368319322 rs768317111 |
63 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362985 rs768317111 |
63 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 67 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4362932 rs771324347 |
70 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA4362931 rs749628546 |
73 | T>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs778309035 CA4362930 |
74 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs770332004 CA4362929 |
75 | S>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA368317201 rs1429004643 |
76 | I>T | No |
ClinGen gnomAD |
|
|
CA368317196 rs1174778718 |
77 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1052473778 CA163119732 |
77 | T>I | No |
ClinGen TOPMed |
|
|
CA368317197 rs1174778718 |
77 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4362927 rs372179143 |
80 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372179143 CA4362926 |
80 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 81 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4362925 rs751865520 |
82 | N>K | No |
ClinGen ExAC |
|
|
CA4362924 rs780395875 |
83 | H>N | No |
ExAC ClinGen |
|
|
rs757169703 CA4362923 |
83 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA368316953 rs1366022881 |
84 | K>E | No |
ClinGen TOPMed |
|
|
COSM1550715 rs763726751 CA4362921 |
84 | K>N | lung [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA163119596 rs969520569 |
88 | K>R | No |
gnomAD ClinGen |
|
|
CA368316717 rs1024029009 |
90 | Q>H | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 92 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759014488 CA4362913 |
93 | G>A | No |
ExAC gnomAD ClinGen |
|
|
rs759014488 CA4362914 |
93 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA368316386 rs1238372679 |
99 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4362912 rs774039338 |
99 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1584465618 CA368316319 |
101 | L>V | No |
Ensembl ClinGen |
|
|
rs1584465611 CA368316278 |
103 | N>H | No |
Ensembl ClinGen |
|
|
CA4362911 rs143438168 |
103 | N>S | No |
ESP ExAC gnomAD ClinGen |
|
|
rs763373299 CA4362910 |
104 | A>V | No |
ClinGen ExAC |
|
|
rs1332599018 CA368316016 |
111 | T>S | No |
gnomAD ClinGen |
|
|
CA368315879 rs1469168385 |
114 | Q>* | No |
gnomAD ClinGen |
|
|
CA4362895 rs367924570 |
115 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4362894 rs765810686 |
115 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA163119333 rs1040554612 |
117 | D>E | No |
ClinGen Ensembl |
|
|
CA163119339 rs900261057 |
117 | D>N | No |
Ensembl ClinGen |
|
| TCGA novel | 119 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269992893 CA368315661 |
122 | N>I | No |
TOPMed ClinGen |
|
|
rs1269992893 CA368315664 |
122 | N>S | No |
TOPMed ClinGen |
|
|
CA4362893 rs772691458 |
123 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362892 rs772691458 |
123 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362890 rs762056760 |
125 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368315543 rs1180070188 |
126 | T>A | No |
gnomAD ClinGen |
|
|
CA163119301 rs912935901 |
128 | A>T | No |
gnomAD ClinGen |
|
|
CA4362889 rs777247584 |
130 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA4362888 rs769275213 |
131 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA368315378 rs1487425530 |
133 | I>R | No |
ClinGen gnomAD |
|
|
rs747155653 CA4362887 |
134 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163119245 rs988320755 |
134 | V>M | No |
ClinGen Ensembl |
|
|
CA4362867 rs772315109 |
138 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA368314546 rs1405147140 |
140 | R>* | No |
TOPMed gnomAD ClinGen |
|
|
CA368314548 rs1405147140 |
140 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA4362865 rs774692664 |
140 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362866 rs774692664 |
140 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA368314475 rs1443760970 |
143 | I>T | No |
ClinGen gnomAD |
|
|
CA4362862 rs138171931 |
146 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138171931 CA4362861 |
146 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4362858 rs757956179 |
147 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA368314304 rs1176938946 |
148 | S>L | No |
gnomAD ClinGen |
|
|
rs1584463531 CA368314292 |
149 | V>G | No |
Ensembl ClinGen |
|
|
CA368314299 rs1554440204 |
149 | V>L | No |
Ensembl ClinGen |
|
|
CA4362857 rs749892070 |
150 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368314269 rs749892070 |
150 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584463515 CA368314122 |
155 | L>R | No |
Ensembl ClinGen |
|
| TCGA novel | 156 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371314246 CA4362855 |
157 | E>G | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA368314021 rs1166630200 |
159 | E>K | No |
TOPMed ClinGen |
|
|
CA4362853 rs201880269 |
160 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs913425842 CA163114144 |
160 | G>R | No |
TOPMed ClinGen |
|
|
rs1315649195 CA368313034 |
161 | T>A | No |
ClinGen gnomAD |
|
|
rs540289540 CA4362832 |
161 | T>M | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA4362827 rs773473254 |
166 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773473254 CA4362828 |
166 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584461804 CA368312905 |
167 | G>A | No |
Ensembl ClinGen |
|
| TCGA novel | 167 | G>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4362823 rs771846539 |
167 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA368312896 rs1386364720 |
168 | P>L | No |
gnomAD ClinGen |
|
|
rs745820787 CA4362822 |
171 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362820 rs770394695 |
172 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4362818 rs777633432 |
174 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA163111931 rs940374764 |
180 | A>T | No |
ClinGen TOPMed |
|
|
rs747744029 CA4362816 |
182 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA4362815 rs781431439 |
183 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755329804 CA4362814 |
186 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs766888621 CA4362812 |
187 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4362810 rs750500632 |
189 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA368312595 rs1406798894 |
190 | A>D | No |
gnomAD ClinGen |
|
|
rs765238055 CA4362809 |
190 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs151193503 CA4362808 |
191 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs538261023 CA4362806 |
192 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368312567 rs1480947340 |
195 | C>R | No |
ClinGen TOPMed |
|
|
rs201268508 CA4362803 |
195 | C>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1178829913 CA368312564 |
195 | C>Y | No |
TOPMed ClinGen |
|
|
CA4362801 rs762915721 |
196 | R>S | No |
ExAC gnomAD ClinGen |
|
|
rs555586869 CA4362802 |
196 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769379549 CA368312524 |
198 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362799 rs769379549 |
198 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362798 rs747835625 |
202 | S>G | No |
ExAC gnomAD ClinGen |
|
|
rs201427060 CA4362797 |
202 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355433444 CA368312412 |
205 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs768953644 CA4362796 |
206 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs372487750 CA4362794 |
208 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4362795 rs747387725 |
208 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4362793 rs758914042 |
209 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA368312325 rs758914042 |
209 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA368312283 rs1322960762 |
211 | R>Q | No |
gnomAD ClinGen |
|
|
CA4362792 rs750876143 |
211 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362790 rs757291985 |
212 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA4362789 rs754104173 COSM1453242 |
213 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4362788 rs199969314 |
216 | D>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA368312195 rs1167081525 |
216 | D>Y | No |
ClinGen gnomAD |
|
|
rs202055724 COSM1093759 CA4362787 |
218 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA4362786 rs751372103 |
219 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs551205493 CA4362785 |
219 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1188228671 CA368311641 |
220 | S>L | No |
ClinGen gnomAD |
|
|
CA368311635 rs1218224462 |
221 | L>P | No |
TOPMed ClinGen |
|
|
rs371859465 CA4362783 |
223 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1000791871 CA163111723 |
224 | P>S | No |
Ensembl ClinGen |
|
|
CA4362781 rs148949544 |
227 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA163111704 rs1044934392 |
228 | P>T | No |
gnomAD ClinGen |
|
|
rs1458368139 CA368311550 |
229 | H>D | No |
TOPMed gnomAD ClinGen |
|
|
rs145773011 CA4362780 |
229 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4362778 rs746578800 |
230 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563006519 CA368311497 |
231 | H>Q | No |
ClinGen Ensembl |
|
|
CA4362776 rs772381691 |
234 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA368311421 rs1337634809 |
238 | E>K | No |
gnomAD ClinGen |
|
|
CA368311394 rs1310140195 |
239 | G>A | No |
gnomAD ClinGen |
|
| rs550433622 | 240 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317810978 CA368311251 |
242 | Q>E | No |
gnomAD ClinGen |
|
|
rs1225170232 CA368311238 |
243 | R>T | No |
ClinGen TOPMed |
|
|
CA163111147 rs942071304 |
246 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340222755 CA368311192 |
248 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 248 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772470218 CA4362756 |
250 | V>D | No |
ExAC gnomAD ClinGen |
|
|
rs1480916988 CA368311138 |
251 | Y>H | No |
TOPMed ClinGen |
|
|
rs746214341 CA4362755 |
253 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4362754 rs774902933 |
254 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs771428880 CA4362753 |
261 | T>M | No |
ExAC gnomAD ClinGen |
|
|
rs771428880 CA368310878 |
261 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA163111118 rs143544626 |
263 | H>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA368310753 rs1236649932 |
264 | D>G | No |
ClinGen gnomAD |
|
|
CA368310771 rs1473114031 |
264 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs756106518 CA4362750 |
265 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748441867 CA4362749 |
266 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264172867 CA368310646 |
269 | S>R | No |
gnomAD ClinGen |
|
|
CA4362736 rs140025601 |
271 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA368310479 rs1440927317 |
272 | G>R | No |
TOPMed ClinGen |
|
| TCGA novel | 275 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368310407 rs1352005357 |
277 | G>E | No |
ClinGen TOPMed |
|
|
rs375661684 CA4362734 |
277 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 278 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487451691 CA368310373 |
279 | A>T | No |
ClinGen gnomAD |
|
|
rs1222483737 CA368310350 |
282 | L>P | No |
ClinGen gnomAD |
|
|
CA368310343 rs769966161 CA4362731 |
283 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs966962591 CA163110789 |
283 | Y>F | No |
ClinGen TOPMed |
|
|
CA368310334 rs1031637913 |
284 | E>* | No |
gnomAD ClinGen |
|
|
CA163110784 COSM1093756 rs1031637913 |
284 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs999783799 CA163110759 COSM1488826 |
285 | F>L | breast [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
| TCGA novel | 285 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146560673 CA4362730 |
288 | Q>* | No |
ClinGen ExAC |
|
| TCGA novel | 289 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584460573 CA368310220 |
289 | G>D | No |
Ensembl ClinGen |
|
|
rs1278020992 CA368310159 |
293 | E>D | No |
gnomAD ClinGen |
|
| TCGA novel | 296 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177117378 CA368309477 |
300 | V>A | No |
ClinGen gnomAD |
|
|
CA368309442 rs1257002685 |
302 | C>Y | No |
ClinGen gnomAD |
|
|
CA4362703 rs780395724 |
303 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747268270 CA4362704 |
303 | D>N | No |
ExAC gnomAD ClinGen |
|
|
CA368309403 rs1275872719 |
305 | L>F | No |
ClinGen gnomAD |
|
|
CA163109952 rs934501665 |
305 | L>R | No |
ClinGen Ensembl |
|
|
CA4362699 rs375168879 |
309 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1381047140 CA368309340 |
310 | P>L | No |
ClinGen gnomAD |
|
|
rs1303255303 CA368309335 |
311 | G>R | No |
ClinGen gnomAD |
|
|
CA368309313 rs1584459585 |
312 | W>* | No |
ClinGen Ensembl |
|
|
CA4362695 rs751261186 |
318 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs765934476 CA4362694 |
319 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220790253 CA368309243 |
319 | S>P | No |
TOPMed ClinGen |
|
|
CA4362692 rs750758871 CA4362693 |
321 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1157360492 CA368309213 |
322 | I>L | No |
ClinGen gnomAD |
|
|
CA4362691 rs541278975 |
322 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1426114427 CA368309211 |
322 | I>T | No |
gnomAD ClinGen |
|
|
CA368309169 rs1249357599 |
326 | D>N | No |
ClinGen TOPMed |
|
|
rs768901199 CA4362688 |
329 | N>K | No |
ExAC gnomAD ClinGen |
|
|
CA368309115 rs1254970329 |
330 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs139427854 CA4362687 |
330 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA368309103 rs1163530281 |
331 | T>A | No |
Ensembl ClinGen |
|
|
rs1353830620 CA368309098 |
331 | T>I | No |
ClinGen gnomAD |
|
|
CA4362685 rs772185228 |
335 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs1313144796 CA368309034 |
336 | D>E | No |
gnomAD ClinGen |
|
|
rs1377881703 CA368309043 |
336 | D>N | No |
ClinGen TOPMed |
|
|
rs1395253231 CA368309029 |
337 | P>A | No |
ClinGen gnomAD |
|
|
CA368308982 rs1478792918 |
341 | H>D | No |
ClinGen TOPMed |
|
|
CA4362683 rs777448321 |
342 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs76186047 CA163109051 |
351 | E>D | No |
ClinGen Ensembl |
|
|
CA4362654 rs371448154 |
352 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362652 rs745550862 |
353 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235455228 CA368308173 |
353 | S>N | No |
ClinGen gnomAD |
|
|
rs1300730857 CA368308163 |
354 | Q>* | No |
gnomAD ClinGen |
|
|
CA4362651 rs778608896 |
355 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764491436 CA4362648 |
360 | S>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs764491436 CA368308011 |
360 | S>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs756708255 CA4362647 |
362 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs767532667 CA368307886 |
366 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753205446 CA4362646 |
366 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs759637040 CA4362644 |
367 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs774494918 CA4362643 |
368 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368307810 rs1239939344 |
371 | A>T | No |
gnomAD ClinGen |
|
|
rs763094831 CA4362641 |
371 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs926392809 CA163109019 |
373 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4362639 rs768392448 |
374 | Y>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4362640 rs768392448 |
374 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362637 rs775470035 |
375 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs775470035 CA368307744 COSM1093755 |
375 | E>K | lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1446075868 CA368307722 |
376 | R>G | No |
ClinGen TOPMed |
|
|
CA368307720 rs1255476219 |
376 | R>K | No |
gnomAD ClinGen |
|
| TCGA novel | 378 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 381 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 382 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4362635 rs745374275 |
383 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs778778993 CA4362634 |
384 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs756980037 CA4362633 |
388 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163109000 rs113407209 |
390 | S>L | No |
Ensembl ClinGen |
|
|
CA163108981 rs946328847 |
391 | L>F | No |
TOPMed ClinGen |
|
|
CA368307455 rs1563003986 |
392 | Q>* | No |
Ensembl ClinGen |
|
|
rs778310796 CA368307435 |
392 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA368307413 rs1171411146 |
393 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs756514093 CA4362630 |
393 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4362629 rs753192419 |
394 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs1156899895 CA368307321 |
399 | C>R | No |
TOPMed ClinGen |
|
|
CA4362628 rs781630860 |
400 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs376042717 CA4362627 |
400 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs376042717 CA368307303 |
400 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs544594217 CA4362626 |
401 | I>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA368307283 rs1255743392 |
402 | E>A | No |
gnomAD ClinGen |
|
| TCGA novel | 404 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763977174 CA4362622 |
407 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
CA368306504 rs1278217071 |
411 | E>Q | No |
gnomAD ClinGen |
|
|
rs1279887456 CA368306452 |
414 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1038849554 CA163108005 |
414 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1403587322 CA368306368 |
417 | M>L | No |
TOPMed ClinGen |
|
|
rs765311429 CA4362599 |
417 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs765311429 CA368306359 |
417 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA163107988 rs778907175 |
419 | M>I | No |
Ensembl ClinGen |
|
|
rs988029156 CA163107985 |
420 | R>* | No |
ClinGen TOPMed |
|
|
CA368306289 rs760459049 |
421 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760459049 CA4362598 |
421 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA368306296 rs1331219937 |
421 | P>S | No |
ClinGen TOPMed |
|
|
COSM106707 CA163107974 rs143718097 |
423 | D>Y | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs767408020 CA4362596 |
426 | K>E | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 426 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969256862 CA163107966 |
427 | R>Q | No |
Ensembl ClinGen |
|
|
CA163107968 COSM1330431 rs371884669 |
427 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ESP gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1563002941 CA368306023 |
430 | V>M | No |
ClinGen Ensembl |
|
|
rs774321941 CA4362594 COSM1453240 |
433 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770659840 CA4362593 |
433 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1209838948 CA368305877 |
434 | G>E | No |
TOPMed ClinGen |
|
|
rs896125111 CA163107952 |
444 | A>T | No |
Ensembl ClinGen |
|
|
CA4362565 rs769155787 |
449 | Y>C | No |
ClinGen ExAC |
|
|
CA368304480 rs1175863268 |
453 | H>Y | No |
gnomAD ClinGen |
|
|
rs1479415533 CA368304457 |
454 | E>K | No |
ClinGen gnomAD |
|
|
rs147363313 CA163106546 |
457 | N>D | No |
ClinGen ESP TOPMed |
|
|
rs777289367 CA163106544 |
457 | N>K | No |
ClinGen Ensembl |
|
|
CA4362560 rs746285789 |
463 | F>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 465 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 466 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs13246077 CA163106535 VAR_052959 |
466 | S>Y | No |
Ensembl ClinGen UniProt dbSNP |
|
|
CA368304201 rs1354399014 |
467 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757455848 CA4362558 |
469 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4362556 rs777730501 |
472 | M>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 476 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4362554 rs751538666 |
477 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA163106528 rs749632497 |
477 | P>S | No |
ClinGen Ensembl |
|
|
CA163106522 rs201084344 |
478 | D>Y | No |
Ensembl ClinGen |
|
|
CA163106519 rs13245758 |
480 | S>T | No |
ClinGen Ensembl |
|
|
rs774713420 CA4362523 |
484 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 487 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368303141 rs1332899963 |
496 | M>L | No |
gnomAD ClinGen |
|
|
CA368303132 rs1260260668 |
496 | M>T | No |
ClinGen gnomAD |
|
|
CA368303139 rs1332899963 |
496 | M>V | No |
ClinGen gnomAD |
|
|
rs773285952 CA4362520 |
500 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA368303034 rs1167480402 |
502 | H>Y | No |
ClinGen gnomAD |
|
|
rs912509725 CA163105768 |
504 | H>Y | No |
Ensembl ClinGen |
|
|
CA4362518 rs748198213 |
505 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1471714831 CA368302997 |
505 | Y>S | No |
ClinGen TOPMed |
|
|
CA4362517 rs781442215 |
506 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA4362516 rs375724773 |
507 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA163105761 rs140834487 |
507 | N>Y | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs778974371 CA4362514 |
508 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756984805 CA4362513 |
509 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935171569 CA163105753 |
509 | G>R | No |
ClinGen TOPMed |
|
|
rs1442316683 CA368302946 |
510 | F>I | No |
ClinGen gnomAD |
|
|
CA368302910 rs1167778045 |
513 | P>S | No |
ClinGen gnomAD |
|
|
rs1472726879 CA368302775 |
520 | G>R | No |
Ensembl ClinGen |
|
|
CA4362509 rs752147185 |
521 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs767022261 CA4362508 |
522 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs751998884 CA4362506 |
524 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs766959722 CA4362505 |
527 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA368302598 rs1339045102 |
529 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs148312786 CA163105728 |
529 | E>Q | No |
ClinGen ESP |
|
|
rs866598496 CA163105722 |
531 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
CA4362503 rs773743230 |
536 | H>R | No |
ExAC gnomAD ClinGen |
|
|
CA4362500 rs776784272 |
542 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA368300948 rs1348940303 |
544 | E>Q | No |
gnomAD ClinGen |
|
|
CA4362464 rs765900524 |
546 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1292059518 CA368300808 |
548 | T>M | No |
ClinGen gnomAD |
|
|
rs764179398 CA4362461 |
549 | P>L | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 549 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318868030 CA368300764 |
550 | V>I | No |
gnomAD ClinGen |
|
|
CA368300489 rs1462112835 |
557 | V>M | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 558 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 560 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478829167 CA368300373 COSM1093750 |
561 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA368300323 rs1193090065 |
563 | G>R | No |
ClinGen gnomAD |
|
|
CA4362458 rs182340234 |
564 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1445831623 CA368300255 |
564 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs759672804 CA4362457 |
565 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA368300195 rs1272178963 |
567 | Q>R | No |
gnomAD ClinGen |
|
|
rs761556981 CA368300160 |
568 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163101144 rs146542045 |
568 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA163101139 rs945688698 |
573 | N>S | No |
TOPMed ClinGen |
|
|
CA4362453 rs776506094 |
574 | G>C | No |
ExAC gnomAD ClinGen |
|
|
rs144216618 CA4362452 |
575 | R>T | No |
ESP ExAC ClinGen |
|
|
CA368299911 rs1324636698 |
578 | P>L | No |
gnomAD ClinGen |
|
|
rs1393516583 CA368299870 |
580 | T>I | No |
gnomAD ClinGen |
|
|
rs757866662 CA368299807 |
582 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362447 rs779526166 |
582 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA368299794 rs1212803697 |
583 | N>S | No |
TOPMed ClinGen |
|
| TCGA novel | 585 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368299665 rs1167421403 |
586 | E>D | No |
gnomAD ClinGen |
|
|
rs1290875122 CA368299685 |
586 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
CA368299611 rs1196222880 |
588 | V>I | No |
TOPMed ClinGen |
|
|
CA163101106 rs200667007 |
589 | R>Q | No |
ClinGen Ensembl |
|
|
COSM3412553 rs759288763 CA163101110 |
589 | R>W | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA368298804 rs1480603799 |
594 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA368298782 rs1234302245 |
596 | F>C | No |
ClinGen Ensembl |
|
|
CA4362415 rs775177705 |
596 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 599 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368298729 rs1166209035 |
600 | I>V | No |
ClinGen TOPMed |
|
|
rs370073901 CA163100426 |
601 | E>A | No |
ClinGen ESP |
|
|
rs1374181814 COSM1757215 CA368298661 |
604 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1161686657 CA368298651 |
606 | A>P | No |
ClinGen gnomAD |
|
|
rs759270319 CA4362413 |
608 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs888135651 CA163100421 |
608 | Q>H | No |
ClinGen Ensembl |
|
|
rs1562997712 CA368298613 |
612 | N>D | No |
Ensembl ClinGen |
|
|
CA4362410 rs748802418 |
612 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs938818363 COSM287810 CA163100412 |
613 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4362407 rs748498881 |
616 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA368298571 rs1230105234 |
618 | H>P | No |
ClinGen TOPMed |
|
|
rs755125606 CA4362405 |
622 | P>R | No |
ExAC gnomAD ClinGen |
|
|
rs1276996571 CA368298547 |
622 | P>T | No |
ClinGen TOPMed |
|
|
rs145872789 CA163100391 |
623 | F>L | No |
ESP ClinGen |
|
|
CA4362404 rs747225670 |
625 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4362402 rs758481494 |
626 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs769190193 CA4362368 |
632 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4362369 rs777100681 |
632 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA4362366 rs775851654 |
634 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs567209958 CA4362365 |
638 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368298019 rs1299347460 |
639 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 639 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388139088 CA368298023 |
639 | D>N | No |
gnomAD ClinGen |
|
|
rs1372053638 CA368297993 |
640 | L>F | No |
ClinGen gnomAD |
|
|
rs1562996531 CA368297970 |
642 | D>N | No |
ClinGen Ensembl |
|
|
CA4362361 rs749423545 |
643 | W>* | No |
ClinGen ExAC |
|
|
rs1289024204 CA368297937 |
643 | W>* | No |
TOPMed ClinGen |
|
|
CA368297893 rs1395390692 |
645 | S>L | No |
TOPMed gnomAD ClinGen |
|
|
rs924925996 CA163099697 |
647 | T>M | No |
Ensembl ClinGen |
|
|
rs758282469 CA4362356 |
648 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779719734 CA4362357 |
648 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368297850 rs1180862058 |
649 | L>P | No |
ClinGen TOPMed |
|
|
rs75899937 CA368297853 |
649 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761281086 CA4362353 |
651 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4362349 rs775761928 |
655 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA163099662 rs147312129 |
655 | D>N | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA4362348 rs772314030 |
658 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368297763 rs1305652444 |
659 | V>L | No |
ClinGen gnomAD |
|
|
rs201404018 CA4362346 |
660 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1093748 rs771219258 CA4362345 |
665 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA368297667 rs1476905020 |
666 | V>A | No |
ClinGen gnomAD |
|
|
CA368297652 rs1365362063 |
667 | E>D | No |
gnomAD ClinGen |
|
|
rs778012554 CA4362343 |
668 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368297615 rs1190159222 |
670 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1562996405 CA368297539 |
672 | E>G | No |
Ensembl ClinGen |
|
|
rs758104307 CA4362339 |
673 | R>S | No |
ClinGen ExAC |
|
|
rs1312287910 CA368297493 |
674 | R>K | No |
TOPMed ClinGen |
|
|
rs745715224 CA4362338 |
674 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362337 rs756619083 |
682 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1584441672 CA368297276 |
684 | S>A | No |
ClinGen Ensembl |
|
|
CA163099617 rs768762040 |
685 | T>M | No |
ClinGen gnomAD |
|
|
CA163099619 rs768762040 |
685 | T>R | No |
gnomAD ClinGen |
|
|
CA368297239 rs1416110024 |
686 | R>Q | No |
ClinGen gnomAD |
|
|
CA4362332 rs753125253 |
693 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs1452788327 CA368297026 |
694 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 695 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368296983 rs1584441616 |
696 | Q>K | No |
ClinGen Ensembl |
|
|
rs1270675685 CA368295990 |
697 | G>A | No |
gnomAD ClinGen |
|
|
CA163098635 rs904254678 |
699 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4362298 rs770696891 |
701 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4362297 rs749123998 COSM1453239 |
701 | A>V | Variant assessed as Somatic; 5.837e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1321613204 CA368295880 |
702 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA368295898 rs1367363479 |
702 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1397349229 CA368295876 |
703 | G>R | No |
ClinGen gnomAD |
|
|
rs769461948 CA4362295 |
705 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA368295752 rs1584438002 |
710 | H>P | No |
Ensembl ClinGen |
|
|
rs780758465 CA4362293 |
710 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs752095252 CA4362291 |
712 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4362292 rs754513116 |
712 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA368295666 rs35405506 |
713 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 713 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4362289 rs750847219 |
714 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA368295657 rs1439013987 |
714 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4362288 rs750847219 |
714 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs529219822 CA4362286 |
715 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA368295604 rs1305276495 |
716 | T>K | No |
gnomAD ClinGen |
|
|
rs1366702796 CA368295550 |
719 | L>F | No |
ClinGen gnomAD |
|
|
rs1366702796 CA368295560 |
719 | L>I | No |
gnomAD ClinGen |
|
|
rs867948867 CA163098583 |
720 | P>L | No |
TOPMed ClinGen |
|
|
rs867948867 CA163098587 |
720 | P>Q | No |
TOPMed ClinGen |
|
|
CA163097567 rs975390528 |
726 | F>I | No |
TOPMed gnomAD ClinGen |
|
|
CA368294727 rs1377632681 |
728 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs749648388 CA4362249 |
728 | R>W | No |
ExAC gnomAD ClinGen |
|
|
CA368294686 rs1562993509 |
730 | D>Y | No |
Ensembl ClinGen |
|
|
CA368294642 rs1431899323 |
732 | P>S | No |
gnomAD ClinGen |
|
|
rs1319463252 CA368294625 |
733 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 734 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767580279 CA4362245 |
735 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs752711197 CA4362246 |
735 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584434780 CA368294547 |
737 | Y>C | No |
Ensembl ClinGen |
|
|
rs1017380590 CA163097556 |
738 | E>K | No |
ClinGen TOPMed |
|
|
rs750339697 CA368294437 |
741 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368294448 rs1228970463 |
741 | Y>C | No |
TOPMed ClinGen |
|
|
CA4362241 rs765129868 |
742 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1019493073 CA163097549 |
743 | K>Q | No |
Ensembl ClinGen |
|
|
rs761627097 CA4362240 |
743 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4362239 rs776311262 |
744 | L>P | No |
ExAC gnomAD ClinGen |
|
|
CA4362238 rs763743749 |
746 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1320398365 CA368294363 |
746 | T>R | No |
gnomAD ClinGen |
|
|
rs775346247 CA4362236 |
748 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA368294326 rs1191512333 |
749 | E>Q | No |
ClinGen TOPMed |
|
|
rs1241831200 CA368294323 |
749 | E>V | No |
ClinGen TOPMed |
|
|
rs745417587 CA4362234 |
752 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA368294264 rs576633613 |
752 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA163097536 rs956288312 |
753 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA368294243 rs1244371678 |
754 | F>L | No |
ClinGen gnomAD |
|
|
CA368294241 rs1244371678 |
754 | F>V | No |
ClinGen gnomAD |
|
|
rs778004950 CA4362230 |
756 | V>M | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9HCE7
6 regional properties for Q9HCE7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 30 - 213 | IPR000219 |
| domain | SH3 domain | 506 - 569 | IPR001452-1 |
| domain | SH3 domain | 602 - 665 | IPR001452-2 |
| domain | BAR domain | 242 - 455 | IPR004148 |
| domain | ARHGEF37, SH3 domain 2 | 606 - 662 | IPR035636 |
| domain | ARHGEF37, first C-terminal SH3 domain | 510 - 563 | IPR035823 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.26 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| 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. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| activin binding | Binding to activin, a dimer of inhibin-beta subunits. |
| I-SMAD binding | Binding to an inhibitory SMAD signaling protein. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
| R-SMAD binding | Binding to a receptor-regulated SMAD signaling protein. |
| 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. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| BMP signaling pathway | The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| ectoderm development | The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. |
| engulfment of target by autophagosome | The membrane invagination process by which an autophagosomal membrane surrounds an object that will be degraded by macroautophagy. |
| negative regulation of BMP signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the BMP signaling pathway. |
| negative regulation of transforming growth factor beta receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway. |
| positive regulation of axon extension | Any process that activates or increases the frequency, rate or extent of axon extension. |
| positive regulation of dendrite extension | Any process that activates or increases the frequency, rate or extent of dendrite extension. |
| positive regulation of ubiquitin-dependent protein catabolic process | Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent protein catabolic process. |
| 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 export from nucleus | The directed movement of a protein from the nucleus into the cytoplasm. |
| protein localization to cell surface | A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
| protein targeting to vacuole involved in autophagy | The process of directing proteins towards the vacuole using signals contained within the protein, occurring as part of autophagy, the process in which cells digest parts of their own cytoplasm. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| receptor catabolic process | The chemical reactions and pathways resulting in the breakdown of a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| substrate localization to autophagosome | The localization process by which an autophagic substrate is delivered to a forming autophagosome. |
| 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 a ubiquitin group, or multiple ubiquitin groups, to the protein. |
| ubiquitin-dependent SMAD protein catabolic process | The chemical reactions and pathways resulting in the breakdown of SMAD signaling proteins by ubiquitination and targeting to the proteasome. |
| Wnt signaling pathway, planar cell polarity pathway | The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity. |
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 |
| Q9Y0H4 | Su(dx) | E3 ubiquitin-protein ligase Su | Drosophila melanogaster (Fruit fly) | SS |
| Q9V853 | Smurf | E3 ubiquitin-protein ligase Smurf1 | 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 |
| 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 |
| O00308 | WWP2 | NEDD4-like E3 ubiquitin-protein ligase WWP2 | 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 |
| 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 |
| Q9DBH0 | Wwp2 | NEDD4-like E3 ubiquitin-protein ligase WWP2 | Mus musculus (Mouse) | SS |
| Q8CFI0 | Nedd4l | E3 ubiquitin-protein ligase NEDD4-like | Mus musculus (Mouse) | PR |
| Q9CUN6 | Smurf1 | E3 ubiquitin-protein ligase SMURF1 | Mus musculus (Mouse) | PR |
| 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 |
| MSNPGTRRNG | SSIKIRLTVL | CAKNLAKKDF | FRLPDPFAKI | VVDGSGQCHS | TDTVKNTLDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KWNQHYDLYV | GKTDSITISV | WNHKKIHKKQ | GAGFLGCVRL | LSNAISRLKD | TGYQRLDLCK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LNPSDTDAVR | GQIVVSLQTR | DRIGTGGSVV | DCRGLLENEG | TVYEDSGPGR | PLSCFMEEPA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PYTDSTGAAA | GGGNCRFVES | PSQDQRLQAQ | RLRNPDVRGS | LQTPQNRPHG | HQSPELPEGY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EQRTTVQGQV | YFLHTQTGVS | TWHDPRIPSP | SGTIPGGDAA | FLYEFLLQGH | TSEPRDLNSV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NCDELGPLPP | GWEVRSTVSG | RIYFVDHNNR | TTQFTDPRLH | HIMNHQCQLK | EPSQPLPLPS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EGSLEDEELP | AQRYERDLVQ | KLKVLRHELS | LQQPQAGHCR | IEVSREEIFE | ESYRQIMKMR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PKDLKKRLMV | KFRGEEGLDY | GGVAREWLYL | LCHEMLNPYY | GLFQYSTDNI | YMLQINPDSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| INPDHLSYFH | FVGRIMGLAV | FHGHYINGGF | TVPFYKQLLG | KPIQLSDLES | VDPELHKSLV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WILENDITPV | LDHTFCVEHN | AFGRILQHEL | KPNGRNVPVT | EENKKEYVRL | YVNWRFMRGI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EAQFLALQKG | FNELIPQHLL | KPFDQKELEL | IIGGLDKIDL | NDWKSNTRLK | HCVADSNIVR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| WFWQAVETFD | EERRARLLQF | VTGSTRVPLQ | GFKALQGSTG | AAGPRLFTIH | LIDANTDNLP |
| 730 | 740 | 750 | |||
| KAHTCFNRID | IPPYESYEKL | YEKLLTAVEE | TCGFAVE |