Q7Z6J8
PR
Gene name |
UBE3D (C6orf157, H10BH, UBE2CBP) |
Protein name |
E3 ubiquitin-protein ligase E3D |
Names |
HECT-type E3 ubiquitin transferase E3D, UbcH10-binding protein with a HECT-like domain, Ubiquitin-conjugating enzyme E2C-binding protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:90025 |
EC number |
2.3.2.26: Aminoacyltransferases |
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 Q7Z6J8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z6J8-F1 | Predicted | AlphaFoldDB |
334 variants for Q7Z6J8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3904845 rs571444949 |
2 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA142616622 rs980918699 |
3 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365041894 rs980918699 |
3 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752725537 CA3904843 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365041888 rs1160271621 |
4 | S>A | No |
ClinGen TOPMed |
|
|
COSM1634946 CA365041887 rs1414076285 |
4 | S>Y | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1309245218 CA365041879 |
5 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767563891 CA3904842 |
7 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1393825099 CA365041864 |
8 | T>A | No |
ClinGen gnomAD |
|
|
rs970412886 CA142616621 |
9 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1453343598 CA365041854 |
10 | V>M | No |
ClinGen TOPMed |
|
|
rs1196220217 CA365041837 |
12 | L>P | No |
ClinGen gnomAD |
|
|
CA3904840 rs149182396 |
13 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760439242 CA3904839 |
13 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA142616620 rs149182396 |
13 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA142616618 rs944446484 |
14 | V>G | No |
ClinGen Ensembl |
|
|
CA365041830 rs1252820786 |
14 | V>M | No |
ClinGen gnomAD |
|
|
rs200020123 CA3904838 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773480264 CA3904837 |
17 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1405998601 CA365041812 |
17 | Q>R | No |
ClinGen TOPMed |
|
|
rs1026887304 CA142616617 |
19 | Q>* | No |
ClinGen Ensembl |
|
|
rs1201574002 CA365041798 |
19 | Q>H | No |
ClinGen gnomAD |
|
|
rs146610333 CA3904836 |
19 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365041784 rs1266692296 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs1329369679 CA365041781 |
22 | L>F | No |
ClinGen gnomAD |
|
|
rs899765355 CA142616616 |
26 | G>V | No |
ClinGen Ensembl |
|
|
CA142615798 rs761484906 |
27 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs776412780 CA3904814 |
28 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs375701422 CA3904813 |
28 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375701422 CA365041405 |
28 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3904811 rs372665243 |
29 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3904812 rs372665243 |
29 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3904810 rs771997693 |
30 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA365041384 rs1275653050 |
32 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs933868097 CA142615796 |
33 | M>I | No |
ClinGen Ensembl |
|
|
CA3904809 rs368913478 |
33 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1348878137 CA365041369 |
34 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778863289 CA3904808 |
35 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365041357 rs1410547484 |
36 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295647890 CA365041337 |
38 | S>F | No |
ClinGen TOPMed |
|
|
rs770710991 CA3904807 |
39 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365041327 rs1174636360 |
40 | M>T | No |
ClinGen gnomAD |
|
|
COSM1446136 CA365041319 rs1582770069 |
41 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA365041304 rs1426402096 |
43 | S>L | No |
ClinGen gnomAD |
|
|
CA142615795 rs1039407018 |
44 | L>R | No |
ClinGen TOPMed |
|
|
CA142615794 rs942389762 |
47 | K>E | No |
ClinGen TOPMed |
|
|
rs751609273 CA3904803 |
48 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA365041268 rs1235631190 |
49 | P>S | No |
ClinGen gnomAD |
|
|
CA365041257 rs1209410876 |
50 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs925702494 CA142615793 |
51 | G>A | No |
ClinGen TOPMed |
|
|
rs1442775013 CA365041248 |
52 | C>R | No |
ClinGen gnomAD |
|
|
rs779971163 CA3904802 |
53 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365041229 rs1226349091 |
54 | E>D | No |
ClinGen gnomAD |
|
|
CA365041235 rs1488653086 |
54 | E>Q | No |
ClinGen TOPMed |
|
|
rs758542673 CA3904801 |
56 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1446135 CA365041195 rs1482756501 |
60 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3904799 rs765904900 |
61 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA365041171 rs1375672136 |
63 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365041162 rs1562236516 |
65 | P>S | No |
ClinGen Ensembl |
|
|
CA142615792 rs865955413 |
67 | S>F | No |
ClinGen Ensembl |
|
|
rs762214588 CA3904798 |
67 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184292340 CA3904797 |
68 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3904794 rs140716565 |
69 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140716565 CA3904795 |
69 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771453519 CA3904793 |
69 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365041125 rs1411064588 |
72 | Q>* | No |
ClinGen gnomAD |
|
|
CA365041123 rs1180786470 |
72 | Q>R | No |
ClinGen gnomAD |
|
|
rs770858305 CA3904790 |
73 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1244925086 CA365041110 |
74 | V>F | No |
ClinGen gnomAD |
|
|
CA365041112 rs1244925086 |
74 | V>I | No |
ClinGen gnomAD |
|
|
rs777566338 CA3904789 |
77 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA365041094 rs1257139477 |
77 | D>N | No |
ClinGen gnomAD |
|
|
rs781134325 CA3904786 |
79 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781134325 CA3904787 |
79 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758392896 CA3904784 |
80 | H>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 80 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3904785 rs780386712 |
80 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3904783 rs750546715 |
82 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1391799569 CA365041064 COSM1754943 |
82 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA365041045 rs1433304516 |
85 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA365041046 rs1433304516 |
85 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764532079 CA3904779 |
87 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3904778 rs761142679 |
88 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA3904777 rs752289218 |
88 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3904776 rs767260415 |
91 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1386992085 CA365041006 |
92 | K>E | No |
ClinGen gnomAD |
|
|
CA142615445 rs971167983 |
92 | K>R | No |
ClinGen Ensembl |
|
|
rs760548165 CA142615444 |
93 | L>M | No |
ClinGen Ensembl |
|
|
rs749782183 CA3904763 |
93 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538545102 CA3904762 |
95 | S>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs756423337 CA3904761 |
96 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3904758 COSM242154 rs754678466 |
101 | S>L | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754678466 CA3904759 |
101 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3904753 rs765232573 |
104 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA3904752 rs761450009 |
105 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776522640 CA3904751 |
107 | C>F | No |
ClinGen ExAC |
|
|
rs1342022821 CA365040883 |
108 | T>A | No |
ClinGen gnomAD |
|
|
rs772136577 CA3904750 |
108 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3904748 rs774759121 |
113 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA365040810 rs200573592 |
114 | C>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1347022694 CA365040798 |
115 | G>D | No |
ClinGen gnomAD |
|
|
CA3904746 rs772009043 |
115 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1347022694 CA365040793 |
115 | G>V | No |
ClinGen gnomAD |
|
|
CA142615442 rs766656801 |
116 | E>K | No |
ClinGen TOPMed |
|
|
rs900436468 CA365040756 |
118 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1040178511 CA142615440 |
118 | I>T | No |
ClinGen Ensembl |
|
|
CA142615441 rs900436468 |
118 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1408727019 CA365040733 |
119 | I>T | No |
ClinGen gnomAD |
|
|
rs1397065959 CA365040724 |
120 | K>E | No |
ClinGen gnomAD |
|
|
CA365040700 rs1464349964 |
121 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs149767269 CA3904745 |
121 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376913152 CA365040682 |
122 | R>K | No |
ClinGen gnomAD |
|
|
CA365044489 rs1324685123 |
123 | K>N | No |
ClinGen gnomAD |
|
|
rs778465396 CA3904718 |
124 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA365044481 rs1389253875 |
125 | L>F | No |
ClinGen gnomAD |
|
|
rs753813517 CA3904716 |
128 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536633396 CA3904714 |
129 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA365044452 rs1461237076 |
130 | L>P | No |
ClinGen TOPMed |
|
|
CA3904713 rs577659762 |
131 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159865367 CA365044439 |
132 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3904709 rs773343288 |
135 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA142614400 rs770806877 |
135 | W>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 136 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3904708 rs769908940 |
136 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761856578 CA3904707 |
136 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1362962450 CA365044402 |
138 | L>V | No |
ClinGen gnomAD |
|
|
rs376822108 CA3904706 |
139 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs969020211 CA142614399 |
142 | W>C | No |
ClinGen TOPMed |
|
|
CA3904705 rs769155032 |
142 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1385127364 CA365044343 |
146 | P>L | No |
ClinGen gnomAD |
|
|
rs1582732407 CA365044333 |
148 | P>A | No |
ClinGen Ensembl |
|
|
rs780419827 CA3904703 |
149 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427027371 CA365044288 |
154 | L>R | No |
ClinGen gnomAD |
|
|
rs139706098 CA3904701 |
156 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139706098 CA365044278 |
156 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772474349 CA3904702 |
156 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA142614398 rs772474349 |
156 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1490039685 CA365044241 |
161 | C>Y | No |
ClinGen gnomAD |
|
|
rs889090927 CA142614396 |
162 | F>L | No |
ClinGen Ensembl |
|
|
rs1224076501 CA365044227 |
163 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 163 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224076501 CA365044228 |
163 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365044212 rs1273858276 |
165 | D>G | No |
ClinGen gnomAD |
|
|
rs777788641 CA3904696 |
166 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA142614395 rs933540602 |
167 | F>V | No |
ClinGen Ensembl |
|
|
CA142614392 rs902135064 |
169 | L>W | No |
ClinGen gnomAD |
|
|
CA3904695 rs189411410 |
170 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs12528542 CA142614391 VAR_037152 |
174 | T>P | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs752727982 CA3904694 |
175 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs531002836 CA3904692 |
177 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1328820772 CA365044052 |
178 | Q>P | No |
ClinGen gnomAD |
|
|
rs1562221768 CA365044007 |
182 | E>K | No |
ClinGen Ensembl |
|
|
rs1422165546 CA365043988 |
183 | L>P | No |
ClinGen gnomAD |
|
|
CA365043977 rs1217918610 |
184 | S>Y | No |
ClinGen TOPMed |
|
|
rs951197540 CA142614390 |
186 | V>G | No |
ClinGen TOPMed |
|
|
rs142879257 CA365043958 CA365043961 |
186 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142879257 CA3904691 |
186 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365043945 rs1429596438 |
187 | E>G | No |
ClinGen gnomAD |
|
|
rs1200900086 CA365043939 |
188 | M>L | No |
ClinGen gnomAD |
|
|
CA365043934 rs1215138344 |
188 | M>R | No |
ClinGen TOPMed |
|
|
rs765389897 CA3904690 |
189 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3904689 rs761884607 |
190 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs142920762 CA365043890 |
192 | S>F | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA3904686 rs142920762 |
192 | S>Y | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA3904685 rs184805529 |
194 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3904683 rs761150273 |
198 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA365043842 rs1410052501 |
199 | L>* | No |
ClinGen TOPMed |
|
|
rs781332051 CA3904673 |
201 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365043816 rs781332051 |
201 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357350166 CA365043800 |
203 | A>G | No |
ClinGen TOPMed |
|
|
rs1023598780 CA142613734 |
209 | C>R | No |
ClinGen TOPMed |
|
|
CA365043752 rs1315365200 |
210 | K>R | No |
ClinGen gnomAD |
|
|
CA3904670 rs147405452 |
211 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3904669 rs142837467 |
211 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764128931 CA3904667 |
213 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs760811107 CA3904666 |
214 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA365043716 rs1455268453 |
215 | M>I | No |
ClinGen gnomAD |
|
|
CA365043723 rs1338283770 |
215 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767927719 CA3904664 |
217 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA142613733 rs370988553 |
218 | E>K | No |
ClinGen ESP |
|
|
CA365043690 rs1182980822 COSM1081997 |
220 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3904661 rs771372668 |
221 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3904662 rs774613603 |
221 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1488426904 CA365043480 |
224 | T>S | No |
ClinGen TOPMed |
|
|
CA365043465 rs1200096043 |
226 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 230 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365043399 rs1480795723 |
235 | Q>R | No |
ClinGen gnomAD |
|
|
rs1410034845 CA365043389 |
237 | S>P | No |
ClinGen TOPMed |
|
|
CA365043379 rs1431464058 |
238 | E>G | No |
ClinGen gnomAD |
|
|
CA3904630 rs752727718 |
239 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA142612033 rs376212153 |
239 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 239 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781097512 CA3904629 |
240 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs755149882 CA3904627 |
242 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs370735261 CA3904626 |
242 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766919200 CA3904625 |
243 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365043339 rs1189648931 |
244 | I>L | No |
ClinGen gnomAD |
|
|
rs1211136668 CA365042963 |
247 | S>F | No |
ClinGen TOPMed |
|
|
CA142611892 rs969475827 |
247 | S>P | No |
ClinGen TOPMed |
|
|
CA3904604 rs548942435 |
248 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3904605 rs548304473 |
248 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3904603 rs548942435 |
248 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA142611891 rs1013525521 |
250 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365042941 rs1454405584 |
251 | Q>* | No |
ClinGen gnomAD |
|
|
rs751013926 CA3904602 |
253 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385844775 CA365042914 COSM743013 |
255 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3904600 rs757764555 |
255 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA365042908 rs1385179568 |
256 | Q>* | No |
ClinGen gnomAD |
|
|
rs992622946 CA142611889 |
256 | Q>L | No |
ClinGen TOPMed |
|
|
rs1405736452 CA365042902 |
257 | C>R | No |
ClinGen TOPMed |
|
|
rs139713531 CA3904598 |
257 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760040124 CA3904597 |
258 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3904596 rs775101543 |
259 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs767396285 CA3904595 |
261 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs759449934 CA3904594 |
261 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA142611888 rs112165583 |
262 | S>P | No |
ClinGen Ensembl |
|
|
rs1219647852 CA365042865 |
263 | S>F | No |
ClinGen gnomAD |
|
|
CA365042821 rs1490154896 |
270 | F>L | No |
ClinGen gnomAD |
|
|
CA365042813 rs1247871063 |
271 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3904590 rs776646948 |
271 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365042798 rs1226885437 |
273 | Q>R | No |
ClinGen gnomAD |
|
|
CA365042789 rs1327259712 |
274 | G>V | No |
ClinGen gnomAD |
|
|
rs1300059525 CA365042779 |
276 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1403210966 CA365042770 |
277 | D>N | No |
ClinGen gnomAD |
|
|
rs1369906217 CA365042763 |
278 | K>E | No |
ClinGen TOPMed |
|
|
CA142611886 rs898748560 |
279 | V>A | No |
ClinGen Ensembl |
|
|
CA365042747 rs1224345821 |
280 | Y>C | No |
ClinGen TOPMed |
|
|
rs747011892 CA3904588 |
281 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3904571 rs769526159 |
284 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs533422449 CA3904570 |
289 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA365042540 rs1345834191 |
290 | S>R | No |
ClinGen TOPMed |
|
|
rs1429295375 CA365042526 |
291 | L>F | No |
ClinGen gnomAD |
|
|
CA142611525 rs1013193748 |
292 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA365042514 rs1468491314 |
293 | I>M | No |
ClinGen gnomAD |
|
|
CA3904568 rs772266394 |
295 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 296 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458961084 CA365042485 |
298 | N>H | No |
ClinGen gnomAD |
|
|
rs1179506963 CA365042479 |
298 | N>K | No |
ClinGen gnomAD |
|
|
CA3904567 rs184416838 |
299 | S>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA365042469 rs1459231442 |
300 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA365042456 rs1323112250 |
302 | I>V | No |
ClinGen gnomAD |
|
|
rs1221049194 CA365042449 |
303 | K>E | No |
ClinGen gnomAD |
|
|
rs1279538721 CA365042440 |
304 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA365042432 rs1443370072 |
305 | F>V | No |
ClinGen gnomAD |
|
|
rs771501277 CA3904565 |
305 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749569942 CA3904564 |
306 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1446285893 CA365042399 |
310 | N>D | No |
ClinGen TOPMed |
|
|
rs137922412 CA3904562 |
311 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780832472 CA3904560 |
312 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365042378 rs1172519567 |
313 | K>* | No |
ClinGen TOPMed |
|
|
rs754416706 CA3904559 |
313 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1392853265 CA365042369 |
314 | A>D | No |
ClinGen TOPMed |
|
|
rs1229595403 CA365042363 |
315 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs150313651 CA142611523 |
315 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3904557 rs150313651 |
315 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3904553 rs761572341 |
317 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3904554 rs761572341 |
317 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3904555 rs761572341 |
317 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775798041 CA3904552 |
318 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238311235 CA365042326 |
321 | S>T | No |
ClinGen gnomAD |
|
|
rs192861638 CA3904551 |
323 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 324 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774598009 CA3904549 |
324 | K>T | No |
ClinGen ExAC |
|
|
rs1284175874 CA365042303 |
325 | V>I | No |
ClinGen gnomAD |
|
|
CA3904548 rs201296041 |
326 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA365042278 rs1582653619 |
328 | Q>H | No |
ClinGen Ensembl |
|
|
CA142611522 rs887982238 |
330 | C>R | No |
ClinGen Ensembl |
|
|
CA142611521 rs897918443 |
331 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA365042223 rs1313308837 |
333 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1245736040 CA365042218 |
333 | S>R | No |
ClinGen gnomAD |
|
|
CA142611520 rs757194554 |
334 | R>G | No |
ClinGen Ensembl |
|
|
CA142611519 rs1036125324 |
335 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA365042166 rs1428019469 |
337 | K>T | No |
ClinGen gnomAD |
|
|
CA3904531 rs767801320 |
341 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3904530 rs759813102 |
342 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs778222970 CA3904529 |
344 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA365042132 rs1194435045 |
347 | S>N | No |
ClinGen gnomAD |
|
|
CA3904527 rs762952211 |
347 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365042126 rs1444369189 |
348 | V>D | No |
ClinGen TOPMed |
|
|
rs139765458 CA3904525 |
348 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365042128 rs139765458 |
348 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3904524 rs145788762 |
349 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA365042123 rs1489102946 |
349 | H>Y | No |
ClinGen gnomAD |
|
|
CA3904523 rs374264401 |
350 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371995393 CA365042114 |
350 | P>S | No |
ClinGen TOPMed |
|
|
CA365042105 rs1582463475 |
352 | T>A | No |
ClinGen Ensembl |
|
|
rs201448398 CA3904520 |
355 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3904519 rs779629421 |
357 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387219967 CA365042075 |
357 | T>S | No |
ClinGen gnomAD |
|
|
rs1296197437 CA365042068 |
358 | C>F | No |
ClinGen gnomAD |
|
|
CA3904517 rs146871348 |
359 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1354133200 CA365042038 |
363 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA365042028 rs1582463291 |
364 | I>M | No |
ClinGen Ensembl |
|
|
CA365042033 rs1490318373 |
364 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA142604973 rs757284113 |
365 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3904516 rs778872211 |
365 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3904514 rs753878017 |
367 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA142604972 rs902833122 |
368 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 368 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3904513 rs763953481 |
369 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3904512 rs756044879 |
371 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs369538557 CA3904511 |
371 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA365041955 rs1480545246 |
376 | L>R | No |
ClinGen gnomAD |
|
|
rs763045511 COSM1446130 CA3904509 |
377 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773185446 CA3904508 |
377 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365041951 rs773185446 |
377 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3904506 rs143403921 |
378 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3904507 rs143403921 |
378 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs557165335 COSM451833 CA3904505 |
378 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA365041949 rs557165335 |
378 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_037153 rs7739323 CA3904504 |
379 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1304844674 CA365041939 |
380 | N>S | No |
ClinGen gnomAD |
|
|
CA365041934 rs1390588725 |
381 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3904503 rs34566948 |
381 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1333119171 CA365041928 |
382 | F>L | No |
ClinGen gnomAD |
|
|
CA142604971 rs898739302 |
383 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 385 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772537110 CA3904482 |
387 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365040481 rs759082824 |
388 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3904481 rs759082824 |
388 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA365040472 rs1264488516 |
389 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs774121838 CA3904480 |
389 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA365040464 rs1451829647 |
390 | M>Y | No |
ClinGen TOPMed |
No associated diseases with Q7Z6J8
No regional properties for Q7Z6J8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q7Z6J8 | |||
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 | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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 |
|---|---|
| cyclin binding | Binding to cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis. |
| ubiquitin conjugating enzyme binding | Binding to a ubiquitin conjugating enzyme, any of the E2 proteins. |
| 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-like protein conjugating enzyme binding | Binding to a ubiquitin-like protein conjugating enzyme such as ubiquitin conjugating enzyme. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 monoubiquitination | Addition of a single ubiquitin group to a protein. |
| protein polyubiquitination | Addition of multiple ubiquitin groups to a protein, forming a ubiquitin chain. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P47172 | YJR141W | Uncharacterized protein YJR141W | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAASAAETRV | FLEVRGQLQS | ALLILGEPKE | GGMPMNISIM | PSSLQMKTPE | GCTEIQLPAE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VRLVPSSCRG | LQFVVGDGLH | LRLQTQAKLG | TKLISMFNQS | SQTQECCTFY | CQSCGEVIIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DRKLLRVLPL | PSENWGALVG | EWCCHPDPFA | NKSLHPQEND | CFIGDSFFLV | NLRTSLWQQR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PELSPVEMCC | VSSDNHCKLE | PKANTKVICK | RCKVMLGETV | SSETTKFYMT | EIIIQSSERS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FPIIPRSWFV | QSVIAQCLVQ | LSSARSTFRF | TIQGQDDKVY | ILLWLLNSDS | LVIESLRNSK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YIKKFPLLEN | TFKADSSSAW | SAVKVLYQPC | IKSRNEKLVS | LWESDISVHP | LTLPSATCLE |
| 370 | 380 | ||||
| LLLILSKSNA | NLPSSLRRVN | SFQVAFLKM |