Q8N806
PR
Gene name |
UBR7 (C14orf130) |
Protein name |
Putative E3 ubiquitin-protein ligase UBR7 |
Names |
N-recognin-7, RING-type E3 ubiquitin transferase UBR7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55148 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8N806
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N806-F1 | Predicted | AlphaFoldDB |
283 variants for Q8N806
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA390803888 rs1225667509 RCV001292563 |
13 | E>* | Li-Campeau syndrome [ClinVar] | Yes |
gnomAD ClinGen ClinVar dbSNP |
| VAR_085255 | 13 | E>del | LICAS; no UBR7 protein detected in patient cells [UniProt] | Yes | UniProt |
|
rs751474426 RCV000190156 CA204115 |
98 | R>H | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001292564 rs1566821779 |
189 | C>missing | Li-Campeau syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001292567 rs1894637828 |
207 | E>missing | Li-Campeau syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_085256 | 305 | W>S | LICAS; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1240248051 CA390803724 CA390803726 |
3 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749175800 CA390803755 |
4 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7319747 rs781332457 |
4 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA390803744 rs781332457 |
4 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs749175800 CA7319748 |
4 | A>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 5 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1044406126 CA390803757 |
5 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1044406126 CA265754170 |
5 | E>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA390803763 rs1457382060 |
5 | E>V | No |
ClinGen gnomAD |
|
|
rs377005548 CA265754174 |
6 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1175504163 CA390803773 |
6 | G>S | No |
ClinGen gnomAD |
|
|
CA390803791 rs2286653 |
7 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2286653 CA7319751 |
7 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA7319752 rs771954873 |
7 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs149784475 CA7319754 |
8 | A>D | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA7319753 rs142345410 |
8 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390803857 rs181764173 |
10 | R>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs181764173 CA7319757 |
10 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs770253186 CA7319758 |
11 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA390803866 rs1260319569 |
11 | Q>R | No |
ClinGen gnomAD |
|
|
rs145704662 CA7319759 |
12 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7319760 rs763251147 |
13 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1225667509 CA390803884 |
13 | E>K | No |
gnomAD ClinGen |
|
| TCGA novel | 13 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390803938 rs1202568155 |
16 | P>S | No |
gnomAD ClinGen |
|
|
rs866062003 CA265754260 |
19 | S>* | No |
Ensembl ClinGen |
|
|
CA390803997 rs1209467085 |
20 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390803999 rs1209467085 |
20 | L>W | No |
TOPMed gnomAD ClinGen |
|
|
rs1481304155 CA390804044 |
23 | V>I | No |
ClinGen gnomAD |
|
|
CA390804113 rs1422869886 |
27 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA390804175 rs1171974791 |
30 | L>V | No |
ClinGen gnomAD |
|
|
rs1431166577 CA390804229 |
32 | N>K | No |
TOPMed ClinGen |
|
|
CA390804232 rs1354607068 |
33 | E>* | No |
TOPMed gnomAD ClinGen |
|
|
CA390804236 rs1354607068 |
33 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs1002875844 CA265754290 |
34 | A>V | No |
Ensembl ClinGen |
|
|
rs868149638 CA265754291 |
36 | A>D | No |
Ensembl ClinGen |
|
| TCGA novel | 39 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767694038 CA7319764 |
40 | G>C | No |
ExAC TOPMed ClinGen |
|
|
rs1407176556 CA390804376 |
40 | G>D | No |
ClinGen gnomAD |
|
|
CA390804370 rs767694038 |
40 | G>S | No |
ExAC TOPMed ClinGen |
|
|
rs750528471 CA7319765 |
43 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390804458 rs1279095682 |
44 | E>* | No |
TOPMed ClinGen |
|
|
CA390804469 CA390804467 rs1213314821 |
44 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1431187891 CA390804519 |
47 | S>T | No |
TOPMed gnomAD ClinGen |
|
|
rs756307413 CA7319766 |
49 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390804579 rs1308160535 |
49 | S>P | No |
ClinGen gnomAD |
|
|
rs760791730 CA7319783 |
51 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs1482866896 CA390806420 |
51 | G>V | No |
ClinGen gnomAD |
|
|
rs995084790 CA265755802 |
56 | Q>K | No |
Ensembl ClinGen |
|
|
rs149016193 CA7319784 |
56 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 57 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390806749 rs1171762293 |
65 | T>N | No |
ClinGen TOPMed |
|
|
CA7319786 rs143806979 |
66 | P>S | No |
ClinGen ESP ExAC |
|
| TCGA novel | 70 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390806854 rs1161686524 |
70 | E>K | No |
gnomAD ClinGen |
|
|
CA390806882 rs1346349327 |
71 | P>Q | No |
gnomAD ClinGen |
|
|
rs976268003 CA265755824 |
78 | C>Y | No |
Ensembl ClinGen |
|
|
rs777636482 CA7319787 |
79 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780773371 CA7319790 |
89 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041938279 CA265755838 |
89 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267604099 CA265756427 COSM2252223 |
98 | R>C | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs267604099 CA7319805 |
98 | R>S | No |
ExAC gnomAD ClinGen |
|
|
CA390807566 rs1480326822 |
102 | G>R | No |
gnomAD ClinGen |
|
|
rs141328208 CA265756443 |
104 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs1197660804 CA390807633 |
104 | S>N | No |
gnomAD ClinGen |
|
|
CA7319807 rs767300340 |
105 | K>T | No |
ExAC gnomAD ClinGen |
|
|
rs747609229 CA7319808 |
107 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs755748480 CA390807805 |
110 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390807836 rs1411668254 |
111 | C>Y | No |
ClinGen gnomAD |
|
|
CA7319810 rs779746473 |
112 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390807870 rs779746473 |
112 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535218313 COSM699053 CA7319811 |
114 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7319812 rs754497824 |
115 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA390807928 rs754497824 |
115 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1304793052 CA390808111 |
116 | D>E | No |
gnomAD ClinGen |
|
| TCGA novel | 120 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 122 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7319828 rs765995405 |
123 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA265757461 rs1040847615 |
125 | K>R | No |
Ensembl ClinGen |
|
|
CA265757463 rs771381397 |
127 | N>S | No |
Ensembl ClinGen |
|
|
rs1379852411 CA390808387 |
131 | F>L | No |
ClinGen TOPMed |
|
|
CA390808416 rs1356898598 |
132 | G>E | No |
ClinGen gnomAD |
|
|
rs748631761 CA390808425 |
133 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs145348711 CA265757473 |
136 | I>F | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs145348711 CA390808443 |
136 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758962649 CA7319833 |
139 | R>K | No |
ExAC gnomAD ClinGen |
|
|
rs1466778026 CA390808493 |
143 | D>A | No |
ClinGen TOPMed |
|
|
rs1242597361 CA390808525 |
147 | E>D | No |
ClinGen gnomAD |
|
|
CA7319836 rs747354068 |
147 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390809357 rs1230672884 |
150 | D>H | No |
Ensembl ClinGen |
|
| TCGA novel | 151 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390809521 rs1595266615 |
155 | C>G | No |
ClinGen Ensembl |
|
|
CA7319853 rs201726432 |
156 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 159 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781419377 CA7319855 |
162 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA390809781 rs1337905340 |
163 | H>R | No |
ClinGen gnomAD |
|
|
CA390809810 rs1229333272 |
164 | G>E | No |
gnomAD ClinGen |
|
|
CA7319866 rs776278366 |
166 | H>R | No |
ClinGen ExAC |
|
|
CA390809981 rs1370738629 |
167 | L>F | No |
ClinGen gnomAD |
|
|
rs759444496 CA7319867 |
168 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA390810013 rs1302899027 |
169 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390810036 rs1344234660 |
171 | P>L | No |
ClinGen gnomAD |
|
|
rs752417625 CA7319870 |
172 | P>R | No |
ExAC ClinGen |
|
|
CA7319868 rs764767770 |
172 | P>T | No |
ClinGen ExAC |
|
|
rs762511172 CA7319871 CA390810057 |
173 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs578200214 CA7319872 |
174 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1307004137 CA390810073 |
175 | G>R | No |
gnomAD ClinGen |
|
|
rs1225267529 CA390810086 |
176 | D>N | No |
ClinGen gnomAD |
|
|
rs752053812 CA7319873 |
180 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390810143 rs1483488539 |
181 | V>A | No |
gnomAD ClinGen |
|
|
CA390810159 rs1360511099 |
183 | Q>H | No |
TOPMed ClinGen |
|
|
CA390810156 rs1214425070 |
183 | Q>P | No |
ClinGen TOPMed |
|
|
CA390810164 rs1435948432 |
184 | A>G | No |
ClinGen TOPMed |
|
|
CA7319874 rs757687404 |
184 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390810176 rs1490839522 |
186 | M>L | No |
gnomAD ClinGen |
|
|
CA390810175 rs1490839522 |
186 | M>V | No |
gnomAD ClinGen |
|
|
CA390810193 rs1191709246 |
188 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs750719841 CA7319876 |
188 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC ClinGen NCI-TCGA |
| TCGA novel | 192 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA265759659 rs1016007578 |
192 | L>M | No |
Ensembl ClinGen |
|
|
CA7319877 rs756547526 |
193 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA390810224 rs1426243483 |
193 | W>G | No |
gnomAD ClinGen |
|
|
rs1324115141 CA390810233 |
194 | A>S | No |
ClinGen TOPMed |
|
|
CA7319878 rs371330936 |
196 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA265759704 rs868854967 |
197 | A>T | No |
ClinGen Ensembl |
|
|
rs953651293 CA265759713 |
199 | L>F | No |
Ensembl ClinGen |
|
|
CA390810659 rs1409440020 |
202 | T>S | No |
gnomAD ClinGen |
|
|
rs200300034 CA265761393 |
205 | S>P | No |
TOPMed ClinGen |
|
|
CA7319895 rs150518102 |
208 | D>Y | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs201000262 CA7319896 |
209 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs201000262 CA265761398 |
209 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA265761402 rs1026625976 |
211 | L>S | No |
ClinGen Ensembl |
|
|
rs1313221098 CA390810720 |
212 | V>M | No |
ClinGen gnomAD |
|
|
rs372446489 CA265761406 COSM958933 |
213 | R>Q | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
CA7319898 rs764896805 |
213 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1315126101 CA390810737 |
215 | I>L | No |
ClinGen gnomAD |
|
|
CA390810747 rs1403671490 |
216 | D>H | No |
TOPMed gnomAD ClinGen |
|
|
CA7319900 rs755180754 |
217 | G>V | No |
ExAC gnomAD ClinGen |
|
|
CA7319901 rs779174373 |
218 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs1460499450 CA390810787 |
219 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs748146700 CA7319902 |
221 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7319904 rs780950055 |
224 | I>T | No |
ExAC TOPMed ClinGen |
|
|
CA7319905 rs745821302 |
225 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs769416041 CA7319906 |
226 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7319907 rs775411812 |
230 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs376014271 CA7319908 |
231 | H>N | No |
ESP ExAC ClinGen |
|
|
CA390810955 rs1162019972 |
232 | Q>E | No |
ClinGen gnomAD |
|
|
rs370550165 CA265761461 |
233 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA265761465 rs974420574 |
237 | K>Q | No |
TOPMed ClinGen |
|
|
rs768388744 CA7319909 |
238 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs774192829 CA7319910 |
239 | D>H | No |
ExAC gnomAD ClinGen |
|
|
rs1361177189 CA390811042 |
240 | V>D | No |
gnomAD ClinGen |
|
|
rs1352356399 CA390811032 |
240 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 244 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7319912 rs767088658 |
244 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7319913 rs773529146 |
244 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs754198156 CA7319916 |
246 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs149329359 CA7319915 |
246 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390811126 rs1595268185 |
247 | D>N | No |
Ensembl ClinGen |
|
|
rs752988529 CA7319919 |
249 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7319918 rs752570952 COSM3744483 |
249 | R>W | liver [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA390811158 rs1566822794 |
250 | E>K | No |
ClinGen Ensembl |
|
|
CA7319920 rs758341511 |
252 | K>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA390811202 rs1595268214 |
253 | V>E | No |
Ensembl ClinGen |
|
|
rs1595268222 CA390811212 |
254 | E>K | No |
ClinGen Ensembl |
|
|
CA390811256 rs1205492313 |
256 | N>K | No |
ClinGen TOPMed |
|
|
CA390811278 rs1290753723 |
257 | S>T | No |
gnomAD ClinGen |
|
|
rs201695066 CA7319923 |
260 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7319921 rs777921819 |
260 | C>R | No |
ExAC gnomAD ClinGen |
|
|
CA7319922 rs201695066 |
260 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147422567 CA7319925 |
262 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1325631261 CA390811392 |
262 | G>V | No |
TOPMed ClinGen |
|
|
rs768592375 CA7319926 |
263 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390811415 rs1222651288 |
263 | S>F | No |
TOPMed ClinGen |
|
|
rs1321827958 CA390811419 |
264 | S>G | No |
gnomAD ClinGen |
|
|
CA390811447 rs1427358502 |
265 | S>C | No |
TOPMed gnomAD ClinGen |
|
|
CA390811444 rs1427358502 |
265 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs754183681 CA265761511 |
266 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1352937537 CA390811574 |
269 | L>F | No |
gnomAD ClinGen |
|
|
rs751623686 CA7319940 |
271 | T>K | No |
ExAC ClinGen |
|
| TCGA novel | 272 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390811921 rs1451694856 |
275 | N>S | No |
ClinGen TOPMed |
|
|
rs76828246 CA7319942 |
277 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568426322 CA7319944 COSM267719 |
280 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7319945 rs199921724 |
281 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390812018 rs1189474904 |
281 | E>Q | No |
gnomAD ClinGen |
|
|
rs1164748993 CA390812059 |
283 | K>R | No |
ClinGen gnomAD |
|
|
CA7319947 rs550779088 |
284 | S>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs550779088 CA7319948 |
284 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1040694037 CA265761740 |
285 | G>V | No |
ClinGen Ensembl |
|
|
rs770451726 CA7319950 |
287 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA7319951 rs777084530 |
288 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390812160 rs117381852 |
289 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7319952 rs117381852 |
289 | Q>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA7319953 rs770343122 |
289 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1233988496 CA390812239 |
293 | A>V | No |
TOPMed ClinGen |
|
|
rs764354804 CA7319956 |
296 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7319957 rs751751098 |
297 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761942906 CA7319958 |
298 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1402170738 CA390812321 |
298 | K>N | No |
ClinGen TOPMed |
|
|
rs1266723158 CA390812327 |
299 | K>T | No |
gnomAD ClinGen |
|
|
rs1466329792 CA390812335 |
300 | D>V | No |
ClinGen gnomAD |
|
|
rs767711705 CA7319959 |
301 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370366278 CA7319960 |
302 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752510350 CA7319963 |
308 | N>H | No |
ExAC gnomAD ClinGen |
|
|
rs758180024 CA7319964 |
310 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA390812408 rs1362774621 |
311 | S>I | No |
TOPMed ClinGen |
|
|
CA390812407 rs1362774621 |
311 | S>T | No |
TOPMed ClinGen |
|
|
rs746698571 CA7319966 |
315 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs865954383 CA390812442 |
316 | C>S | No |
gnomAD ClinGen |
|
|
rs1285329137 CA390812444 |
316 | C>W | No |
TOPMed gnomAD ClinGen |
|
|
CA265761787 rs865954383 |
316 | C>Y | No |
ClinGen gnomAD |
|
|
CA7319967 rs374711240 |
317 | Q>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 318 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780859190 CA7319999 |
322 | M>I | No |
ExAC gnomAD ClinGen |
|
|
CA390812828 rs1338958182 |
323 | Y>C | No |
gnomAD ClinGen |
|
|
rs1198621129 CA390812928 |
327 | D>E | No |
ClinGen gnomAD |
|
|
rs755600963 CA7320001 |
327 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA390812935 rs1595269018 |
328 | V>F | No |
ClinGen Ensembl |
|
|
CA390812969 rs780568553 |
329 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749762097 CA7320003 |
332 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA390813052 rs1176118862 |
333 | D>H | No |
ClinGen gnomAD |
|
|
CA7320005 rs774845091 |
336 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7320006 rs748590673 |
340 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA265762184 rs368656256 |
341 | Y>H | No |
ClinGen ESP TOPMed |
|
|
rs1303664977 CA390813328 |
343 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 343 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772392117 CA7320008 |
344 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390813380 rs952684024 |
346 | K>N | No |
TOPMed ClinGen |
|
|
rs1566823384 CA390813394 |
347 | I>S | No |
ClinGen Ensembl |
|
|
rs147191980 CA7320009 |
349 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7320010 rs760763487 |
350 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA265762194 rs1018571389 |
352 | D>N | No |
ClinGen Ensembl |
|
|
rs1364822082 CA390813501 |
355 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA390813514 rs1555385500 |
356 | P>H | No |
ClinGen Ensembl |
|
|
rs1402295856 CA390813512 |
356 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs1402295856 CA390813511 |
356 | P>T | No |
ClinGen TOPMed |
|
|
rs1226466467 CA390813566 |
359 | D>V | No |
gnomAD ClinGen |
|
|
rs1276963777 CA390813577 |
360 | T>A | No |
gnomAD ClinGen |
|
| TCGA novel | 362 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477403884 CA390813663 |
364 | M>I | No |
ClinGen TOPMed |
|
|
rs1221412026 CA390813655 |
364 | M>T | No |
gnomAD ClinGen |
|
|
CA390813677 rs1263654673 |
365 | N>S | No |
gnomAD ClinGen |
|
| TCGA novel | 366 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764083288 CA7320014 |
370 | V>M | No |
ExAC gnomAD ClinGen |
|
|
rs148754732 CA265762201 |
371 | E>D | No |
ESP gnomAD ClinGen |
|
|
CA265762200 rs1042862923 |
371 | E>G | No |
ClinGen TOPMed |
|
|
CA390813744 rs1260431945 |
372 | L>F | No |
ClinGen gnomAD |
|
|
rs751320372 CA7320015 |
373 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA390814414 rs1181710487 |
377 | N>S | No |
ClinGen gnomAD |
|
|
rs955488975 CA265762821 |
378 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 385 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 389 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390814623 rs1309425917 |
390 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 394 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770988177 CA7320032 |
395 | T>M | No |
ExAC gnomAD ClinGen |
|
|
rs1413925610 CA390816332 |
396 | V>I | No |
gnomAD ClinGen |
|
|
rs191360982 CA265764670 |
401 | D>N | No |
1000Genomes ClinGen |
|
|
CA390816447 rs1595272641 |
402 | I>V | No |
Ensembl ClinGen |
|
|
rs1333901047 CA390816469 |
403 | Q>E | No |
ClinGen TOPMed |
|
|
rs1448540367 CA390816500 |
404 | Q>* | No |
ClinGen gnomAD |
|
|
rs951509609 CA265764672 |
404 | Q>H | No |
gnomAD ClinGen |
|
|
CA7320051 rs781522405 |
408 | E>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA7320052 rs745882286 |
410 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA390816610 rs1427733411 |
411 | S>T | No |
TOPMed ClinGen |
|
|
CA265764680 rs76428714 |
413 | K>R | No |
Ensembl ClinGen |
|
| TCGA novel | 414 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769893433 CA7320054 |
414 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1280350519 CA390816714 |
415 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
| rs938250388 | 416 | R>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 420 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312389573 CA390816825 |
420 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1206750113 CA390816814 |
420 | M>K | No |
gnomAD ClinGen |
|
|
CA390816812 rs1470089758 |
420 | M>L | No |
TOPMed ClinGen |
|
|
CA265764701 rs2906 |
421 | Q>P | No |
Ensembl ClinGen |
|
| TCGA novel | 425 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q8N806
[MIM: 619189]: Li-Campeau syndrome (LICAS)
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, ptosis, hypothyroidism, and variable cardiac and genital anomalies. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy. {ECO:0000269|PubMed:33340455}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, ptosis, hypothyroidism, and variable cardiac and genital anomalies. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy. {ECO:0000269|PubMed:33340455}. Note=The disease is caused by variants affecting the gene represented in this entry.
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| zinc ion binding | Binding to a zinc ion (Zn). |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BU04 | Ubr7 | Putative E3 ubiquitin-protein ligase UBR7 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGAEGAAGR | QSELEPVVSL | VDVLEEDEEL | ENEACAVLGG | SDSEKCSYSQ | GSVKRQALYA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CSTCTPEGEE | PAGICLACSY | ECHGSHKLFE | LYTKRNFRCD | CGNSKFKNLE | CKLLPDKAKV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NSGNKYNDNF | FGLYCICKRP | YPDPEDEIPD | EMIQCVVCED | WFHGRHLGAI | PPESGDFQEM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VCQACMKRCS | FLWAYAAQLA | VTKISTEDDG | LVRNIDGIGD | QEVIKPENGE | HQDSTLKEDV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PEQGKDDVRE | VKVEQNSEPC | AGSSSESDLQ | TVFKNESLNA | ESKSGCKLQE | LKAKQLIKKD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TATYWPLNWR | SKLCTCQDCM | KMYGDLDVLF | LTDEYDTVLA | YENKGKIAQA | TDRSDPLMDT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSSMNRVQQV | ELICEYNDLK | TELKDYLKRF | ADEGTVVKRE | DIQQFFEEFQ | SKKRRRVDGM |
| QYYCS |