P40818
PR
Gene name |
USP8 |
Protein name |
Ubiquitin carboxyl-terminal hydrolase 8 |
Names |
Deubiquitinating enzyme 8, Ubiquitin isopeptidase Y, hUBPy, Ubiquitin thioesterase 8, Ubiquitin-specific-processing protease 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9101 |
EC number |
3.4.19.12: Omega peptidases |
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
8 structures for P40818
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1WHB | NMR | - | A | 174-317 | PDB |
| 2A9U | X-ray | 210 A | A/B | 1-142 | PDB |
| 2GFO | X-ray | 200 A | A | 734-1110 | PDB |
| 2GWF | X-ray | 230 A | A/C/E | 181-318 | PDB |
| 3N3K | X-ray | 260 A | A | 734-1110 | PDB |
| 6F09 | X-ray | 159 A | A/B/C/D | 712-724 | PDB |
| 8ADM | X-ray | 170 A | P | 715-722 | PDB |
| AF-P40818-F1 | Predicted | AlphaFoldDB |
753 variants for P40818
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001215011 CA392382784 rs1322588568 |
85 | Y>S | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7555448 RCV000633121 rs202135045 |
133 | R>W | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147742292 RCV000633122 CA7555531 |
195 | K>E | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000876098 CA7555537 rs150245386 |
212 | D>N | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7555568 rs61751062 RCV000535635 |
268 | L>I | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7555572 rs752682936 RCV000633119 |
275 | R>W | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs143070181 CA7555593 RCV000691735 |
289 | V>I | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs138148339 RCV001246142 CA7555599 |
296 | V>I | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs61733869 RCV000559198 CA7555648 |
348 | A>T | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001341214 rs2051600642 |
350 | Q>H | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7555655 RCV000532955 rs768800460 |
362 | I>V | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7555663 rs373704916 RCV001069592 |
377 | I>V | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001431368 CA7555666 rs755896571 |
383 | P>L | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000633125 rs150568948 CA7555669 |
388 | K>E | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs3743044 VAR_017796 CA7555703 RCV000542854 |
443 | D>G | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7555704 RCV002064746 COSM962558 rs148244041 |
444 | R>C | Hereditary spastic paraplegia endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7555720 RCV000557543 rs115970610 |
483 | R>Q | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7555722 rs761395751 RCV000798738 |
487 | Q>R | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7555731 RCV000872191 rs113169913 |
506 | K>Q | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs778969876 CA392393303 RCV000807610 |
511 | E>Q | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000875024 CA7555751 rs192977674 |
559 | H>Y | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7555851 rs372108112 RCV001226138 |
641 | S>N | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA048717 rs672601309 RCV000149419 |
713 | L>R | Pituitary dependent hypercortisolism [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs672601310 RCV000149419 CA049021 |
717 | Y>C | Pituitary dependent hypercortisolism [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000149418 rs672601308 COSM1731733 VAR_079718 CA174939 |
718 | S>C | NS Pituitary dependent hypercortisolism PITA4; somatic mutation; unknown pathological significance [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000149417 rs672601307 VAR_079719 CA174937 |
718 | S>P | Pituitary dependent hypercortisolism PITA4; somatic mutation; unknown pathological significance; localizes to nucleus instead of cytoplasm [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_079720 | 718 | S>del | PITA4; somatic mutation; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_079717 | 718 | S>del | PITA4; somatic mutation; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000149416 rs672601306 |
719 | S>missing | Pituitary dependent hypercortisolism [ClinVar] | Yes |
ClinVar dbSNP |
|
CA174941 VAR_079721 RCV000149420 COSM1749198 rs672601311 |
720 | P>R | urinary_tract Pituitary dependent hypercortisolism PITA4; somatic mutation; unknown pathological significance [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
rs898810598 CA270505096 RCV000815035 |
749 | Y>C | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA392400497 RCV001294286 rs1318445105 |
764 | N>S | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs144130206 RCV001205749 CA7555944 |
766 | N>S | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000700781 rs371064052 CA7555948 |
774 | P>A | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA392401091 rs1555392171 RCV000633120 |
815 | N>D | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001207175 rs2052386755 |
948 | A>P | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA270510862 RCV001348238 rs762795803 |
1098 | S>A | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002249800 rs142928952 RCV001213502 CA7556210 |
1112 | R>* | Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746008168 CA7555354 |
2 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA270468868 rs1023737708 |
3 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA392379927 rs1362442451 |
4 | V>M | No |
ClinGen gnomAD |
|
|
rs772245581 CA7555355 |
6 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1275424636 CA392379988 |
10 | E>G | No |
ClinGen gnomAD |
|
|
CA392379983 rs1254440813 |
10 | E>Q | No |
ClinGen TOPMed |
|
|
rs1252709211 CA392380026 |
13 | L>V | No |
ClinGen gnomAD |
|
|
rs1488299999 CA392380071 |
16 | S>L | No |
ClinGen TOPMed |
|
|
CA270468888 rs1003252953 |
16 | S>P | No |
ClinGen Ensembl |
|
|
rs146265742 CA270468892 |
18 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA7555359 rs776989869 |
28 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA270468899 rs1030667700 |
35 | S>G | No |
ClinGen Ensembl |
|
|
rs1279917919 CA392380939 |
36 | Y>C | No |
ClinGen TOPMed |
|
|
rs1389421520 CA392380955 |
37 | V>M | No |
ClinGen gnomAD |
|
|
rs758955965 CA7555385 |
40 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774971326 CA392381236 |
51 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774971326 CA7555387 |
51 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392381288 rs1287934732 |
54 | R>G | No |
ClinGen gnomAD |
|
|
CA7555389 rs763929433 |
54 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144092934 CA7555390 |
58 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757196521 CA7555391 |
59 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA392381414 rs1595907622 |
60 | Y>C | No |
ClinGen Ensembl |
|
|
CA7555392 rs766384696 |
61 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7555394 rs376372339 |
63 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555527158 CA392381467 |
63 | Y>S | No |
ClinGen Ensembl |
|
|
CA270469927 rs200486051 |
64 | M>V | No |
ClinGen 1000Genomes |
|
|
rs1409946215 CA392381510 |
65 | K>R | No |
ClinGen TOPMed |
|
|
CA7555397 COSM3386923 rs201994026 |
67 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA392381597 rs1471559119 |
70 | Y>C | No |
ClinGen gnomAD |
|
|
CA270469938 rs932067821 |
70 | Y>H | No |
ClinGen Ensembl |
|
|
rs1367318685 CA617873192 |
71 | N>I | No |
ClinGen gnomAD |
|
|
CA392381645 rs1170411850 |
72 | L>P | No |
ClinGen gnomAD |
|
|
rs1390758927 CA392381648 |
73 | I>V | No |
ClinGen gnomAD |
|
|
rs756495148 CA7555398 |
74 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| rs1567603601 | 76 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA270469945 rs941161267 |
76 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7555400 rs749808011 |
81 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1050468211 CA270469953 |
83 | Q>E | No |
ClinGen TOPMed |
|
|
rs376140894 CA7555417 |
84 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376140894 CA7555418 |
84 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392382813 rs1366023091 |
86 | F>L | No |
ClinGen gnomAD |
|
|
rs1434934283 CA392382856 |
89 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7555420 rs779520263 |
90 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 93 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7555421 rs142318657 |
95 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA270473142 rs887975163 |
96 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1193422063 CA392382984 |
97 | K>E | No |
ClinGen TOPMed |
|
|
rs1262889620 CA392383187 |
108 | S>R | No |
ClinGen TOPMed |
|
|
rs1186581350 CA392383213 |
110 | K>E | No |
ClinGen gnomAD |
|
|
rs375156642 CA7555443 |
119 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs979378456 CA270476676 |
119 | R>W | No |
ClinGen gnomAD |
|
|
rs1351722544 CA392383973 |
121 | K>E | No |
ClinGen gnomAD |
|
|
rs1352845159 CA392383998 |
122 | L>H | No |
ClinGen TOPMed |
|
|
CA392383994 rs1458806543 |
122 | L>V | No |
ClinGen gnomAD |
|
|
CA270476695 rs1006177945 |
126 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs747706527 CA7555447 |
126 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1368580280 CA392384086 |
129 | E>K | No |
ClinGen TOPMed |
|
|
CA392384109 rs1349440474 |
132 | Q>P | No |
ClinGen gnomAD |
|
|
rs1349440474 CA392384111 |
132 | Q>R | No |
ClinGen gnomAD |
|
|
rs546168322 CA7555449 |
133 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770919827 CA7555451 |
134 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555452 rs774241076 |
135 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs760792621 CA7555453 |
136 | Q>K | No |
ClinGen ExAC |
|
|
rs764108123 CA7555454 |
136 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs764108123 CA7555455 |
136 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 138 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458768704 CA392384154 |
139 | Q>H | No |
ClinGen TOPMed |
|
|
rs1250834656 CA392384173 |
142 | G>E | No |
ClinGen gnomAD |
|
|
CA392384170 rs1595932529 |
142 | G>R | No |
ClinGen Ensembl |
|
|
CA7555457 rs761871009 |
145 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7555456 rs761871009 |
145 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA392384206 rs1175709880 |
147 | G>D | No |
ClinGen gnomAD |
|
|
CA392384203 rs1480606305 |
147 | G>S | No |
ClinGen TOPMed |
|
|
rs750813812 CA7555458 |
148 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750813812 CA270476729 |
148 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392384232 rs1317409542 |
151 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7555462 rs754557553 |
154 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA392384279 rs1217922643 |
158 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1370341995 CA392384281 |
159 | D>N | No |
ClinGen gnomAD |
|
|
rs747842448 CA7555464 |
160 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375181185 CA7555465 |
161 | K>E | No |
ClinGen ESP ExAC |
|
|
rs777475376 CA7555466 |
161 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA392384309 rs1210004059 |
163 | K>E | No |
ClinGen TOPMed |
|
|
rs141529735 CA7555468 |
163 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141529735 CA7555467 |
163 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392384319 rs1227280203 |
164 | T>I | No |
ClinGen gnomAD |
|
|
CA7555469 rs774290227 |
165 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 166 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965266445 CA270478042 |
167 | S>C | No |
ClinGen Ensembl |
|
|
rs377647055 CA7555491 |
168 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs572018148 CA392384708 CA7555492 |
171 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1334060411 CA392384702 |
171 | K>Q | No |
ClinGen Ensembl |
|
|
rs147121994 CA7555493 |
172 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780038219 CA7555494 |
174 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA713565478 rs1454169875 |
175 | C>* | No |
ClinGen TOPMed |
|
|
CA270478066 rs201911916 |
175 | C>R | No |
ClinGen Ensembl |
|
|
CA392384748 rs1193238501 |
177 | T>S | No |
ClinGen gnomAD |
|
|
CA7555495 rs748219940 |
177 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392384751 rs769898763 |
178 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs769898763 CA7555496 |
178 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA392384754 rs1193237482 |
178 | K>R | No |
ClinGen TOPMed |
|
|
CA392384758 rs1350788542 |
179 | E>K | No |
ClinGen gnomAD |
|
|
rs760025344 CA7555522 |
183 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392384805 rs1229279965 |
184 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7555523 rs772431442 |
187 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs753400763 CA7555527 |
190 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA392384848 rs1254450968 |
190 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA270479199 rs867689830 |
191 | M>K | No |
ClinGen Ensembl |
|
|
rs200067725 CA7555528 |
191 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392384861 rs1473529488 |
192 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs572385653 CA7555529 |
192 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA392384867 rs368365577 |
193 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM117603 rs368365577 CA270479205 |
193 | T>M | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA270479213 rs937524145 |
196 | N>T | No |
ClinGen TOPMed |
|
|
CA392384897 rs1370946899 |
197 | I>M | No |
ClinGen gnomAD |
|
|
rs751456417 CA7555533 |
199 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs754887241 CA7555534 |
200 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754887241 CA392384912 |
200 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568390027 CA7555535 |
201 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392384919 rs1334052082 |
201 | I>V | No |
ClinGen gnomAD |
|
|
CA392384949 rs1359291088 |
205 | R>Q | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 206 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392384992 rs1244464615 |
211 | Q>K | No |
ClinGen gnomAD |
|
|
CA270479226 rs893188424 |
211 | Q>R | No |
ClinGen TOPMed |
|
|
rs199774545 CA270479229 |
214 | C>Y | No |
ClinGen 1000Genomes |
|
|
rs375828318 CA270479232 |
215 | I>V | No |
ClinGen ESP |
|
|
CA392385050 rs1343385612 |
219 | L>P | No |
ClinGen gnomAD |
|
|
CA270479237 rs767324330 |
220 | S>G | No |
ClinGen Ensembl |
|
|
rs140695550 CA7555538 |
220 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392385055 rs140695550 |
220 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392385062 rs1248028178 |
221 | V>A | No |
ClinGen gnomAD |
|
|
CA392385066 rs1443618535 |
222 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1301201 CA7555540 rs772324296 |
223 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1442631960 CA392385085 |
225 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1170430569 CA392385090 |
225 | A>V | No |
ClinGen gnomAD |
|
|
rs775862620 CA7555541 |
227 | S>G | No |
ClinGen ExAC |
|
|
rs747318682 CA7555542 |
227 | S>I | No |
ClinGen ExAC gnomAD |
|
| rs1461353902 | 228 | P>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392385114 rs769270133 |
229 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA7555543 rs769270133 |
229 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA270485965 rs928608253 |
230 | V>I | No |
ClinGen gnomAD |
|
|
rs1389954512 CA392385839 |
231 | T>A | No |
ClinGen gnomAD |
|
|
rs773766828 CA270485972 |
232 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1293795192 CA392385880 |
234 | W>R | No |
ClinGen gnomAD |
|
|
rs1233871340 CA392385938 |
236 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757443139 CA392386009 |
241 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757443139 CA7555556 |
241 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 242 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7555557 rs779069079 |
244 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA392386091 rs1194258404 |
245 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA270485979 rs988856200 |
245 | D>N | No |
ClinGen Ensembl |
|
|
CA392386511 rs1381693745 |
250 | R>T | No |
ClinGen TOPMed |
|
| TCGA novel | 252 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201806528 CA7555559 |
252 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7555563 rs374045855 |
255 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7555562 rs374045855 |
255 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1039138794 CA270486009 |
256 | V>M | No |
ClinGen Ensembl |
|
|
CA392386657 rs1200366362 |
258 | L>V | No |
ClinGen gnomAD |
|
|
rs772655890 CA7555566 |
259 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566868574 CA392386822 |
265 | A>P | No |
ClinGen Ensembl |
|
|
rs1161410933 CA392386853 |
266 | K>N | No |
ClinGen gnomAD |
|
|
rs762359568 CA7555567 |
266 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933539606 CA270486022 |
269 | Q>R | No |
ClinGen Ensembl |
|
|
CA270486033 rs771076618 |
270 | I>M | No |
ClinGen Ensembl |
|
|
CA270486030 rs1052363268 |
270 | I>V | No |
ClinGen Ensembl |
|
|
rs759395527 CA7555570 |
273 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7555571 rs373688387 |
274 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376852674 CA7555574 |
275 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376852674 CA7555573 |
275 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7555575 rs750582663 |
276 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA7555577 rs780374316 |
277 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758377463 CA7555576 |
277 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs751685494 CA7555578 |
278 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs755368712 CA7555579 |
279 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs774737015 CA270486098 |
282 | F>S | No |
ClinGen Ensembl |
|
|
rs1009978860 CA270490252 |
284 | W>R | No |
ClinGen TOPMed |
|
|
rs772002457 CA7555589 |
286 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7555591 rs775483439 |
288 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555590 rs775483439 |
288 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392388419 rs1360015521 |
290 | L>P | No |
ClinGen gnomAD |
|
|
CA7555594 rs763116964 |
291 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555595 rs766331208 |
291 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555596 rs766331208 |
291 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258394432 CA392388629 |
302 | E>G | No |
ClinGen gnomAD |
|
|
CA7555603 rs770476927 |
304 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA270490378 rs934743001 |
308 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA229229 RCV000087331 VAR_077850 rs587777201 |
310 | Q>K | found in a patient with spastic paraplegia; unknown pathological significance [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
| TCGA novel | 310 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392388860 rs1566873330 |
313 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs771916790 CA7555606 |
314 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392388952 rs1460177010 |
317 | V>F | No |
ClinGen gnomAD |
|
|
CA7555608 rs746847194 |
319 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768289348 CA7555609 |
320 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7555611 rs776663696 |
321 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392389017 rs776663696 |
321 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555610 rs776663696 |
321 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555613 rs148200969 |
322 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA270490438 rs141527925 |
323 | R>C | No |
ClinGen ESP gnomAD |
|
|
rs759611314 CA7555614 |
323 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA392389055 rs1307099388 COSM555247 |
324 | Q>R | lung Variant assessed as Somatic; 4.642e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7555615 rs767770227 |
325 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA392389092 rs1257779924 |
325 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1374375591 CA392389117 |
326 | E>G | No |
ClinGen gnomAD |
|
|
CA392389135 rs1461878218 |
328 | V>M | No |
ClinGen gnomAD |
|
|
CA392389150 rs1595960015 |
329 | S>P | No |
ClinGen Ensembl |
|
|
CA7555617 rs756499295 |
330 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs373961591 CA7555616 |
330 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764295931 CA7555618 |
331 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7555640 rs757610253 |
333 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs892967581 CA270490896 |
333 | D>G | No |
ClinGen TOPMed |
|
|
CA392389443 rs1438402880 |
340 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7555644 rs779640512 |
341 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555643 rs202174816 |
341 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs572462098 CA7555645 |
342 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780897382 CA7555647 |
343 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7555646 rs754644935 |
343 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202208945 CA392389602 |
345 | S>F | No |
ClinGen TOPMed |
|
|
rs769611703 CA7555649 |
349 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273356428 CA392389671 |
349 | A>P | No |
ClinGen TOPMed |
|
|
rs561403213 CA7555651 |
351 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1270091071 CA392389738 |
351 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1485402491 CA392389809 |
353 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1253329438 CA392389853 |
354 | A>V | No |
ClinGen gnomAD |
|
|
rs775600591 CA7555653 |
356 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1407040575 CA392389992 |
359 | D>E | No |
ClinGen gnomAD |
|
|
rs776889830 CA7555656 |
362 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1301593548 CA392390109 |
364 | L>F | No |
ClinGen gnomAD |
|
|
CA7555657 rs762105717 |
365 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs890063015 CA270491040 |
366 | S>G | No |
ClinGen TOPMed |
|
|
CA392390161 rs1443085002 |
366 | S>R | No |
ClinGen gnomAD |
|
|
CA392390193 rs750971374 |
368 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7555660 rs763497996 |
369 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1292891887 CA392390211 |
370 | E>K | No |
ClinGen gnomAD |
|
|
rs1359249352 CA392390283 |
374 | P>T | No |
ClinGen gnomAD |
|
|
rs766979897 CA7555661 |
375 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA7555662 rs751182745 |
376 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392390338 rs1180408983 |
377 | I>M | No |
ClinGen gnomAD |
|
|
CA392390365 rs1230680792 |
379 | T>I | No |
ClinGen gnomAD |
|
|
CA7555664 rs142618983 |
381 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1446305382 CA392390380 |
381 | V>I | No |
ClinGen gnomAD |
|
|
CA392390403 rs755896571 |
383 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752348753 CA7555665 |
383 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199817887 CA7555667 |
384 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328189016 CA392390429 |
386 | A>D | No |
ClinGen gnomAD |
|
|
rs1410773589 CA392390422 |
386 | A>T | No |
ClinGen gnomAD |
|
|
rs1566874127 COSM3724121 CA392390442 |
387 | S>C | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs368766733 CA7555670 |
390 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA392390530 rs1316439497 |
394 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7555671 rs747106169 |
395 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244304180 CA392390581 |
397 | P>L | No |
ClinGen gnomAD |
|
|
rs1206230135 CA392390597 |
399 | P>R | No |
ClinGen TOPMed |
|
|
CA392390629 rs1393917124 |
401 | I>K | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7555673 rs776747250 |
405 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555690 rs745776500 |
409 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555691 rs114434131 |
409 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA392391144 rs114434131 |
409 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745776500 CA392391140 |
409 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392391153 rs781276238 |
410 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555692 rs781276238 |
410 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177155562 CA392391205 |
415 | V>G | No |
ClinGen gnomAD |
|
|
rs748164919 CA7555693 |
420 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs770207958 CA7555694 |
421 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA270494410 rs963012530 |
422 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA392391341 rs1291210594 |
423 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386090874 CA392391406 |
427 | S>G | No |
ClinGen gnomAD |
|
|
CA7555695 rs773537203 |
427 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA392391410 rs1347165024 |
427 | S>R | No |
ClinGen gnomAD |
|
|
CA392391430 rs749722937 |
429 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA392391437 rs1346962267 |
430 | H>Y | No |
ClinGen gnomAD |
|
|
rs3131561 CA392391492 |
432 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392391504 rs1241096521 |
433 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA392391530 rs1349659067 |
434 | S>F | No |
ClinGen gnomAD |
|
|
rs1262812755 CA392391521 |
434 | S>P | No |
ClinGen gnomAD |
|
|
CA270494425 rs1032238662 |
435 | P>S | No |
ClinGen TOPMed |
|
|
CA7555700 rs767894854 |
437 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs775130274 CA7555701 |
437 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760142757 CA7555702 |
438 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7555705 rs757075119 |
444 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148244041 CA392391710 |
444 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765014060 CA7555706 |
446 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7555707 rs750339367 |
446 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA392391859 rs1314956032 |
450 | V>I | No |
ClinGen TOPMed |
|
|
rs779852315 CA7555709 |
453 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA392391954 rs1367863703 |
454 | T>A | No |
ClinGen gnomAD |
|
|
CA7555710 rs748300775 |
455 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748300775 CA392392003 |
455 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778167683 CA7555712 |
456 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307116996 CA392392088 |
458 | T>A | No |
ClinGen gnomAD |
|
|
CA392392140 rs1335058895 |
459 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 462 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236804285 CA392392225 |
462 | K>T | No |
ClinGen gnomAD |
|
|
CA7555714 rs771430115 |
464 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7555715 rs376376613 |
464 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1351203958 CA392392275 |
465 | I>F | No |
ClinGen TOPMed |
|
|
CA392392297 rs1487640030 |
465 | I>M | No |
ClinGen gnomAD |
|
|
rs1566877628 CA392392314 |
466 | H>R | No |
ClinGen Ensembl |
|
|
CA392392346 rs1178981965 |
468 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 469 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7555717 rs774487136 |
471 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA270494559 rs975531155 |
472 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392392539 rs1177380547 |
475 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1056572 CA270494560 |
476 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 476 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 476 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1056573 CA270494562 |
478 | Q>K | No |
ClinGen Ensembl |
|
|
CA392392691 rs1386778482 |
479 | E>G | No |
ClinGen gnomAD |
|
|
CA270494591 rs1056574 |
479 | E>K | No |
ClinGen Ensembl |
|
|
CA392392758 rs1267239386 |
482 | L>R | No |
ClinGen TOPMed |
|
|
CA270494612 rs942688916 |
483 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM962560 rs942688916 CA392392765 |
483 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA392392793 rs1298189876 |
484 | E>* | No |
ClinGen gnomAD |
|
|
rs776267903 CA7555721 |
486 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs142653887 CA392392879 |
488 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392392861 rs1317124619 |
488 | E>K | No |
ClinGen gnomAD |
|
|
rs750301760 CA7555724 |
490 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA392392947 rs1312685935 COSM962562 |
492 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA392392974 rs1320074025 |
494 | L>R | No |
ClinGen gnomAD |
|
|
CA270494656 rs998397177 |
495 | R>G | No |
ClinGen Ensembl |
|
|
rs1251953737 CA392392984 |
495 | R>K | No |
ClinGen gnomAD |
|
|
rs1343517658 CA392392995 |
496 | K>E | No |
ClinGen TOPMed |
|
|
CA7555726 rs766389632 |
498 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1282416513 CA392393065 |
499 | Q>E | No |
ClinGen TOPMed |
|
|
rs371732889 CA7555728 |
501 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs756297512 CA7555730 |
504 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7555732 rs754130031 |
507 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1170785330 CA392393238 |
508 | E>K | No |
ClinGen gnomAD |
|
|
CA392393253 rs1371963198 |
509 | A>T | No |
ClinGen gnomAD |
|
|
CA7555733 rs757563212 |
510 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7555734 rs778969876 |
511 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA392393381 rs1345299550 |
514 | I>M | No |
ClinGen TOPMed |
|
|
rs746289412 CA7555735 |
514 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392393397 rs1451829113 |
516 | E>V | No |
ClinGen gnomAD |
|
|
rs772273196 CA7555736 |
517 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392393422 rs1459296877 |
518 | Q>E | No |
ClinGen TOPMed |
|
|
CA270494737 rs375123059 |
519 | Q>R | No |
ClinGen Ensembl |
|
|
CA392393553 rs1363883900 |
524 | E>G | No |
ClinGen gnomAD |
|
|
rs1216545969 CA392393617 |
527 | K>N | No |
ClinGen gnomAD |
|
|
CA392393623 rs868805781 |
528 | K>I | No |
ClinGen gnomAD |
|
|
CA270494758 rs868805781 |
528 | K>R | No |
ClinGen gnomAD |
|
|
rs747450307 CA7555738 |
529 | E>V | No |
ClinGen ExAC |
|
|
rs1317353746 CA392393658 |
530 | S>G | No |
ClinGen gnomAD |
|
|
rs1317353746 CA392393656 |
530 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7555739 rs768167279 |
533 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA392393718 rs768167279 |
533 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA392393725 rs1434109057 |
533 | A>V | No |
ClinGen TOPMed |
|
|
rs1265116069 CA392393733 |
534 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs776174967 CA7555740 |
537 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1184969539 CA392393784 |
537 | D>N | No |
ClinGen TOPMed |
|
|
CA7555741 rs761309863 |
538 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1485642663 CA392393858 |
542 | A>G | No |
ClinGen TOPMed |
|
|
rs781177898 CA270494798 |
543 | K>N | No |
ClinGen TOPMed |
|
|
CA392393887 rs1236079149 |
544 | R>T | No |
ClinGen gnomAD |
|
|
CA7555743 rs142438540 |
545 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752217639 CA7555744 |
546 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1476652867 CA392393948 |
549 | T>A | No |
ClinGen gnomAD |
|
|
rs1177882342 CA392393951 |
549 | T>K | No |
ClinGen gnomAD |
|
|
CA392393954 rs1321341217 |
550 | G>R | No |
ClinGen TOPMed |
|
|
CA7555746 rs751550506 |
555 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs766051603 CA7555745 |
555 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7555747 rs759491390 |
557 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs759491390 CA392394429 |
557 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs767554389 CA7555748 |
557 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555749 rs767554389 |
557 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392394483 rs1313705725 |
559 | H>R | No |
ClinGen TOPMed |
|
|
rs1398394184 CA392394527 |
561 | T>I | No |
ClinGen gnomAD |
|
|
CA7555752 rs750569680 |
565 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1285212102 CA392394615 |
565 | K>R | No |
ClinGen gnomAD |
|
|
CA7555753 rs758792740 |
566 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs780338070 CA7555754 |
567 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7555755 rs747360459 |
568 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs747707912 CA7555758 |
569 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7555757 rs781641995 |
569 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA7555759 rs769139625 |
570 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555760 rs772952784 |
571 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762449215 CA7555761 |
571 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923787908 CA270494902 |
572 | G>E | No |
ClinGen Ensembl |
|
|
rs774350299 CA7555763 |
573 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1401252495 CA392394804 |
574 | R>G | No |
ClinGen gnomAD |
|
|
CA7555764 rs563022218 |
574 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755591528 CA7555765 |
576 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs755591528 CA392394897 |
576 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1418089136 CA392394957 |
579 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 582 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 582 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs956538044 CA270494917 |
584 | S>A | No |
ClinGen Ensembl |
|
|
CA270494910 rs956538044 |
584 | S>T | No |
ClinGen Ensembl |
|
|
rs752630054 CA7555766 |
588 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA270494932 rs989384309 |
589 | P>S | No |
ClinGen gnomAD |
|
|
rs1274994081 CA392395219 |
590 | H>L | No |
ClinGen Ensembl |
|
|
CA392395234 rs1376078077 |
591 | T>I | No |
ClinGen gnomAD |
|
|
CA392395228 rs1414069418 |
591 | T>S | No |
ClinGen gnomAD |
|
|
CA270494977 rs1039670134 |
592 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs758605290 CA7555770 |
592 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392395238 rs1039670134 |
592 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7555771 rs151309054 |
594 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA270494994 rs892424410 |
595 | G>E | No |
ClinGen TOPMed |
|
|
CA7555772 rs200518441 CA392395270 |
595 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 596 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7555775 rs370039324 |
598 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7555777 rs567071169 |
601 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392395348 rs1295540607 |
601 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA270496224 rs945713895 |
602 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7555796 rs548032910 |
603 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548032910 CA392395688 |
603 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7555797 rs748794488 |
604 | K>T | No |
ClinGen ExAC |
|
|
CA392395771 rs1330776879 |
605 | I>M | No |
ClinGen gnomAD |
|
|
CA7555798 rs756773900 |
605 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA392395755 rs1421735125 |
605 | I>V | No |
ClinGen gnomAD |
|
|
rs1296896413 CA392395774 |
606 | K>E | No |
ClinGen TOPMed |
|
|
CA392395788 rs1398654945 |
607 | G>R | No |
ClinGen gnomAD |
|
|
rs373793912 CA270496274 |
615 | R>K | No |
ClinGen ESP |
|
|
rs10220843 CA392396051 |
619 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1271635084 CA392396050 |
619 | F>S | No |
ClinGen gnomAD |
|
|
CA392396055 rs1217418722 |
620 | R>G | No |
ClinGen gnomAD |
|
|
rs1377487463 CA392396115 |
622 | D>A | No |
ClinGen TOPMed |
|
|
CA392396112 rs1255643664 |
622 | D>Y | No |
ClinGen gnomAD |
|
|
rs1166863901 CA392396131 |
623 | T>A | No |
ClinGen TOPMed |
|
|
CA392396141 rs1429148023 |
623 | T>R | No |
ClinGen TOPMed |
|
|
rs1468488851 CA392396171 |
625 | D>G | No |
ClinGen Ensembl |
|
|
CA7555805 rs768514589 |
625 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762964593 CA7555807 |
626 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762964593 CA392396192 |
626 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7555811 rs767717276 |
627 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7555810 rs759699181 |
627 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA270496316 rs201122256 |
630 | K>* | No |
ClinGen Ensembl |
|
|
CA7555812 rs763111780 |
630 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7555845 rs764450802 |
631 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs762466409 CA7555847 |
633 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs138584718 CA7555848 |
633 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392397675 rs1279895759 |
638 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA392397684 rs1352764348 |
639 | A>T | No |
ClinGen gnomAD |
|
|
rs749992885 CA7555849 |
639 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1284080580 CA392397699 |
640 | R>G | No |
ClinGen gnomAD |
|
|
rs374126671 CA392397703 |
640 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7555850 rs374126671 COSM962564 |
640 | R>Q | Variant assessed as Somatic; 4.657e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7555852 rs751184049 |
642 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA392397758 rs1431924913 |
643 | E>G | No |
ClinGen gnomAD |
|
|
rs1595980889 CA392397780 |
644 | M>I | No |
ClinGen Ensembl |
|
|
CA7555853 rs754736729 |
645 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7555854 rs780985138 |
646 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA392397823 rs747926929 |
647 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375429027 CA7555856 |
648 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372364105 CA392397889 |
652 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 653 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392397898 rs1292386237 |
653 | S>A | No |
ClinGen gnomAD |
|
|
CA270503079 rs769101446 |
655 | W>R | No |
ClinGen Ensembl |
|
|
rs1388007452 CA392397941 |
656 | A>T | No |
ClinGen gnomAD |
|
|
rs1338433359 CA392398451 |
659 | L>F | No |
ClinGen gnomAD |
|
|
rs1055328450 CA270503307 |
663 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 663 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396824151 CA392398509 |
664 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754719632 CA7555878 |
665 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392398516 rs754719632 |
665 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392398544 rs767075041 |
667 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7555879 rs767075041 |
667 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752531593 CA392398555 |
668 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7555880 rs752531593 |
668 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA270503341 rs892322612 |
669 | Y>H | No |
ClinGen gnomAD |
|
|
CA270503348 rs946535091 |
672 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA392398638 rs1173151953 |
674 | N>S | No |
ClinGen gnomAD |
|
|
CA392398681 rs1360244826 |
678 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7555881 rs755885856 |
678 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360244826 CA392398679 |
678 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392398722 rs1450861492 |
681 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 682 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178952614 CA392398760 |
683 | M>T | No |
ClinGen TOPMed |
|
|
CA392398773 rs1361730532 |
684 | A>D | No |
ClinGen gnomAD |
|
|
CA7555882 rs139674785 |
684 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392398778 rs1595981584 |
685 | P>A | No |
ClinGen Ensembl |
|
|
CA7555883 rs763755665 |
686 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7555884 rs758417750 |
687 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA7555885 rs780235373 |
687 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 687 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373181353 CA7555886 |
688 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112703306 CA7555889 |
692 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs980279690 CA270503382 |
692 | T>P | No |
ClinGen Ensembl |
|
|
CA7555890 rs112703306 |
692 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392398879 rs1446943428 |
694 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs996743342 CA270503387 |
694 | P>T | No |
ClinGen Ensembl |
|
|
CA270503393 rs200463480 |
696 | H>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA270503389 rs1029684059 |
696 | H>R | No |
ClinGen gnomAD |
|
|
CA392398907 rs1402105249 |
697 | K>E | No |
ClinGen gnomAD |
|
|
CA392398930 rs1483654869 |
698 | A>S | No |
ClinGen TOPMed |
|
|
rs763461434 CA7555892 |
702 | I>V | No |
ClinGen ExAC |
|
|
CA7555893 rs766783893 |
703 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758941863 CA7555895 |
706 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs78727795 CA7555894 |
706 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1313852039 CA392399033 |
707 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7555897 rs752302468 |
708 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392399054 rs1566885855 |
709 | E>Q | No |
ClinGen Ensembl |
|
|
CA392399066 rs1313998618 |
710 | P>A | No |
ClinGen TOPMed |
|
|
rs1228528846 CA392399074 |
710 | P>L | No |
ClinGen TOPMed |
|
|
CA7555899 rs763815800 |
715 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753615462 CA7555900 |
716 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs672601310 CA7555901 |
717 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs747160985 CA392399146 |
719 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA7555902 rs747160985 |
719 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA392399155 COSM434007 rs1425703534 |
720 | P>A | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA392399160 rs672601311 |
720 | P>L | No |
ClinGen gnomAD |
|
|
rs1173636295 CA392399164 |
721 | D>H | No |
ClinGen gnomAD |
|
|
rs1346795056 CA392399180 |
722 | I>V | No |
ClinGen gnomAD |
|
|
rs754964511 CA7555903 |
723 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs781597373 CA7555904 |
725 | A>G | No |
ClinGen ExAC |
|
| TCGA novel | 727 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299099759 CA392399256 |
728 | E>D | No |
ClinGen gnomAD |
|
|
CA7555906 rs770297801 |
730 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748314737 CA7555905 |
730 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1566886030 CA392399285 |
731 | K>E | No |
ClinGen Ensembl |
|
|
CA7555907 rs773772253 |
732 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392399310 rs1309099972 |
733 | K>E | No |
ClinGen TOPMed |
|
|
rs749613917 CA7555908 |
733 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA7555911 VAR_051525 rs11638390 |
739 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA270503539 rs954020976 |
739 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs771500055 CA270503549 |
740 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs771500055 CA7555912 |
740 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 741 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7555914 rs760375643 |
742 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392399407 rs760375643 |
742 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7555913 rs775133859 |
742 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766417574 CA7555938 |
748 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA7555939 rs752867013 |
750 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs756244075 CA7555940 |
750 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs752867013 CA392400267 |
750 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1251946675 CA392400360 |
755 | S>L | No |
ClinGen TOPMed |
|
|
CA392400383 rs1284483311 |
757 | L>V | No |
ClinGen gnomAD |
|
|
rs1355220072 CA392400455 |
761 | Q>H | No |
ClinGen gnomAD |
|
|
rs1259464105 CA392400484 |
763 | R>Q | No |
ClinGen gnomAD |
|
|
CA7555941 rs78143971 |
763 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs74840283 CA7555942 |
764 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1188016389 CA392400539 |
768 | V>L | No |
ClinGen gnomAD |
|
|
CA7555945 rs746224465 |
770 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7555947 rs780515524 |
771 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7555946 rs746817843 |
771 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA392400601 rs371064052 |
774 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146125856 CA7555949 COSM215607 |
776 | L>P | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1000613362 CA270505189 |
779 | L>F | No |
ClinGen gnomAD |
|
|
rs1335275694 CA392400659 |
780 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 784 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148783236 CA7555952 COSM404325 |
785 | T>A | lung pancreas large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs148783236 CA7555953 |
785 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1048693032 CA270505194 |
790 | S>A | No |
ClinGen TOPMed |
|
|
rs150760397 CA7555954 |
791 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777805887 CA7555956 |
798 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777805887 CA7555957 |
798 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392400911 rs1247327349 |
800 | H>R | No |
ClinGen gnomAD |
|
|
rs375680554 CA270505216 |
802 | A>P | No |
ClinGen ESP |
|
|
rs1318530445 CA392400956 |
803 | D>E | No |
ClinGen TOPMed |
|
|
CA7555959 rs753936051 |
807 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757464075 CA7555960 |
808 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7555961 rs765494568 |
809 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371774928 CA392401064 |
813 | D>N | No |
ClinGen gnomAD |
|
|
rs780544435 CA7555964 |
814 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA392401106 rs1394151223 |
816 | R>G | No |
ClinGen TOPMed |
|
|
rs1257166571 CA392401196 |
816 | R>S | No |
ClinGen TOPMed |
|
|
rs1223148412 CA392401229 |
821 | G>E | No |
ClinGen gnomAD |
|
|
rs1201238977 CA392401234 |
822 | H>Y | No |
ClinGen TOPMed |
|
|
rs1056577 VAR_017797 |
827 | A>G | No |
UniProt dbSNP |
|
|
CA7556036 rs779948124 |
827 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA392401273 rs1245233173 |
828 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA270506293 rs201910907 |
830 | F>Y | No |
ClinGen 1000Genomes |
|
|
CA392401300 rs1191461432 |
831 | G>D | No |
ClinGen gnomAD |
|
|
rs1239830326 CA392401373 |
837 | L>M | No |
ClinGen gnomAD |
|
|
rs754974426 CA7556039 |
838 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA270506345 rs959634953 |
839 | T>I | No |
ClinGen Ensembl |
|
|
rs1398963218 CA392401441 |
842 | Y>C | No |
ClinGen gnomAD |
|
|
CA392401468 COSM2216600 rs1350930491 |
844 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA392401462 rs1566889884 |
844 | Y>H | No |
ClinGen Ensembl |
|
|
CA7556043 rs774465850 |
845 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA392401503 rs1379667337 |
846 | S>R | No |
ClinGen gnomAD |
|
|
rs1024419615 CA270506362 |
850 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 851 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 852 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746049888 CA7556044 |
852 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs372709153 CA270506367 |
855 | G>V | No |
ClinGen ESP TOPMed |
|
|
rs772158668 CA7556045 |
856 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs761111109 CA7556047 |
857 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764714215 CA7556048 |
858 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539465242 CA7556049 |
859 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1203248629 CA392401656 |
859 | D>G | No |
ClinGen Ensembl |
|
|
rs971069764 CA270506390 |
859 | D>Y | No |
ClinGen Ensembl |
|
|
rs1211784505 CA392401690 |
862 | A>T | No |
ClinGen gnomAD |
|
|
CA7556050 rs761442503 |
862 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7556051 rs764793582 |
865 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7556053 rs145418277 |
866 | Q>H | No |
ClinGen ESP ExAC |
|
|
rs749879795 CA7556052 |
866 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
COSM3816289 rs1208403123 CA392402167 |
871 | E>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA392402285 rs1595987776 |
881 | H>P | No |
ClinGen Ensembl |
|
|
CA392402319 rs1297132876 |
884 | L>V | No |
ClinGen TOPMed |
|
|
rs777302105 CA7556069 |
888 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762460014 CA7556070 |
889 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs772845486 CA7556072 |
890 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765632252 CA7556071 |
890 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA392402551 rs1487081071 |
892 | R>T | No |
ClinGen TOPMed |
|
|
rs1284713317 CA392402560 |
893 | Y>H | No |
ClinGen TOPMed |
|
|
CA392402574 rs1431121834 |
894 | K>E | No |
ClinGen gnomAD |
|
|
CA392402597 rs1415816530 |
895 | E>D | No |
ClinGen gnomAD |
|
|
rs1171270205 CA392402630 |
898 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7556073 rs762357165 |
898 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs766068005 CA7556074 |
899 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392402669 rs1412306898 |
901 | L>F | No |
ClinGen gnomAD |
|
|
rs759355507 CA7556076 |
902 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568333100 CA270508212 |
902 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA392402704 rs906414320 |
903 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1268194133 CA392402743 |
906 | A>G | No |
ClinGen gnomAD |
|
|
rs1030979869 CA270508273 |
909 | H>Y | No |
ClinGen Ensembl |
|
|
rs1485486877 CA392402811 |
915 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA270508307 rs957021358 |
916 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 918 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265483948 CA392402839 |
919 | E>K | No |
ClinGen gnomAD |
|
|
rs1448047549 CA392402848 |
920 | S>P | No |
ClinGen gnomAD |
|
|
CA7556080 rs147249505 |
921 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371687395 CA392402859 |
922 | I>V | No |
ClinGen gnomAD |
|
|
CA392402866 rs1566892519 |
923 | V>I | No |
ClinGen Ensembl |
|
|
CA270508344 rs1022495273 |
924 | A>V | No |
ClinGen TOPMed |
|
|
rs1387135959 CA392402892 |
927 | Q>E | No |
ClinGen TOPMed |
|
|
CA7556081 rs750533909 |
931 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1020798789 CA270508377 |
933 | T>I | No |
ClinGen TOPMed |
|
|
CA392402946 rs1335914513 |
935 | Q>E | No |
ClinGen gnomAD |
|
|
CA7556082 rs140697398 |
937 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs934236560 CA270508408 |
939 | C>R | No |
ClinGen Ensembl |
|
|
rs780357836 CA7556083 |
941 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1316069416 CA392403008 |
944 | R>G | No |
ClinGen gnomAD |
|
|
rs747180322 CA7556084 |
947 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA270508444 rs966954805 |
948 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1241125001 CA392403055 |
950 | M>I | No |
ClinGen TOPMed |
|
|
CA270508484 rs987554775 |
952 | L>F | No |
ClinGen Ensembl |
|
|
rs770389343 COSM190260 CA7556088 |
955 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA270508508 rs907522267 |
956 | L>V | No |
ClinGen Ensembl |
|
|
rs184335240 CA7556089 |
960 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7556090 rs762527793 |
962 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA7556121 rs763751145 |
967 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs986830418 CA270509597 |
972 | S>F | No |
ClinGen Ensembl |
|
|
rs1233994254 CA392403634 |
973 | K>E | No |
ClinGen gnomAD |
|
|
rs75355582 CA270509605 |
974 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 975 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA270509619 rs200122689 |
976 | K>R | No |
ClinGen 1000Genomes |
|
|
rs80089999 CA270509641 |
978 | T>I | No |
ClinGen TOPMed |
|
|
CA392403745 rs80089999 |
978 | T>K | No |
ClinGen TOPMed |
|
|
CA392403771 rs1167545384 |
980 | N>T | No |
ClinGen TOPMed |
|
|
CA270509653 rs148538894 |
986 | S>N | No |
ClinGen 1000Genomes |
|
|
CA7556125 rs375149813 |
987 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392403905 rs1257640792 |
988 | C>W | No |
ClinGen gnomAD |
|
|
CA392403913 rs1475214003 |
990 | A>T | No |
ClinGen gnomAD |
|
|
rs1186609591 CA392403919 |
990 | A>V | No |
ClinGen gnomAD |
|
|
rs2052448846 RCV001169927 |
991 | R>* | No |
ClinVar dbSNP |
|
|
CA7556126 rs755050919 |
991 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7556128 rs752820652 |
992 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7556127 rs767857177 |
992 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756522739 CA7556129 |
999 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs778045882 CA7556130 |
1000 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA392404133 rs1415436065 |
1002 | K>R | No |
ClinGen gnomAD |
|
|
rs920130596 COSM962570 CA270509710 |
1005 | P>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 1005 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296730010 CA392404296 |
1009 | V>M | No |
ClinGen gnomAD |
|
|
CA7556133 rs779376532 |
1010 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA392404364 rs1213598743 |
1011 | L>V | No |
ClinGen TOPMed |
|
|
rs747898807 CA7556162 |
1015 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA7556163 rs769672286 |
1016 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA392404691 rs1182105379 |
1016 | Y>H | No |
ClinGen TOPMed |
|
|
rs979005566 CA270510585 |
1017 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7556165 rs763032061 |
1020 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA392404762 rs1203804592 |
1025 | Q>H | No |
ClinGen TOPMed |
|
|
rs770957779 CA392404770 |
1027 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392404774 rs1440647526 |
1027 | S>F | No |
ClinGen gnomAD |
|
|
CA7556167 rs770957779 |
1027 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392404775 rs1566895315 |
1028 | V>M | No |
ClinGen Ensembl |
|
|
CA392404781 rs1433273543 |
1029 | D>N | No |
ClinGen gnomAD |
|
|
CA270510603 rs760792363 |
1031 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7556169 rs760792363 |
1031 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760792363 CA392404800 |
1031 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392404824 rs1315025860 COSM962574 |
1035 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA392404842 rs1273563290 |
1037 | L>W | No |
ClinGen gnomAD |
|
|
rs1320327229 CA392404854 |
1039 | Q>P | No |
ClinGen TOPMed |
|
|
rs750757919 CA7556174 |
1040 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA270510635 rs1049366992 |
1042 | I>V | No |
ClinGen Ensembl |
|
|
rs1211588467 CA392404880 |
1043 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs900013674 CA270510639 RCV000509313 |
1044 | P>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs758971533 CA7556175 |
1045 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA392404901 rs1371184668 |
1046 | N>S | No |
ClinGen TOPMed |
|
|
CA392404915 rs1566895454 |
1048 | L>W | No |
ClinGen Ensembl |
|
| TCGA novel | 1052 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392404976 rs1456280661 |
1056 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1056 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177829330 CA392404983 |
1057 | S>L | No |
ClinGen gnomAD |
|
|
rs768734813 CA7556192 |
1060 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA270510810 rs960428350 |
1061 | G>S | No |
ClinGen Ensembl |
|
|
CA392405113 rs1267260385 |
1064 | D>H | No |
ClinGen TOPMed |
|
|
CA270510817 rs111576653 |
1067 | H>R | No |
ClinGen Ensembl |
|
|
CA392405199 rs1312980575 |
1071 | Y>S | No |
ClinGen gnomAD |
|
|
rs1231005829 CA392405214 |
1072 | C>Y | No |
ClinGen gnomAD |
|
|
rs765442235 CA7556195 |
1076 | A>P | No |
ClinGen ExAC |
|
|
rs766802045 CA7556198 |
1079 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7556197 rs763247130 |
1079 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA392405328 rs1595997671 |
1081 | F>V | No |
ClinGen Ensembl |
|
|
CA392405460 rs1340335724 |
1090 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7556200 rs61761607 |
1093 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1485630012 CA392405508 |
1094 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 1094 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA392405513 rs1186126697 |
1095 | S>P | No |
ClinGen gnomAD |
|
|
CA392405541 rs1442958999 |
1097 | K>I | No |
ClinGen TOPMed |
|
|
CA7556202 rs752223049 |
1099 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7556207 rs373469646 |
1109 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770689793 CA7556206 |
1109 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745868641 CA7556208 |
1110 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA392405717 rs1170359688 |
1111 | P>L | No |
ClinGen TOPMed |
|
|
rs1320130504 CA392405708 |
1111 | P>T | No |
ClinGen gnomAD |
|
|
rs748213555 CA7556211 |
1112 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194842774 CA392405758 |
1115 | D>V | No |
ClinGen TOPMed |
|
|
rs200283811 CA7556212 |
1117 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
1 associated diseases with P40818
[MIM: 219090]: Pituitary adenoma 4, ACTH-secreting (PITA4)
A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA4 results in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269|PubMed:28505279}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete. PITA4 results in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269|PubMed:28505279}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for P40818
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | 777 - 1106 | IPR001394 |
| domain | Rhodanese-like domain | 184 - 313 | IPR001763 |
| domain | USP8 dimerisation domain | 8 - 115 | IPR015063 |
| conserved_site | Ubiquitin specific protease, conserved site | 778 - 793 | IPR018200-1 |
| conserved_site | Ubiquitin specific protease, conserved site | 1051 - 1068 | IPR018200-2 |
| domain | Ubiquitin specific protease domain | 777 - 1109 | IPR028889 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.4.19.12 | Omega peptidases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| extrinsic component of endosome membrane | The component of an endosome membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| extrinsic component of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| 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. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| cysteine-type deubiquitinase activity | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| cysteine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to dexamethasone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dexamethasone stimulus. |
| cellular response to nerve growth factor stimulus | A process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nerve growth factor stimulus. |
| endosome organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of endosomes. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| positive regulation of canonical Wnt signaling pathway | Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| protein deubiquitination | The removal of one or more ubiquitin groups from a protein. |
| protein K48-linked deubiquitination | A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein. |
| protein K63-linked deubiquitination | A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein. |
| Ras protein signal transduction | The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. |
| regulation of protein catabolic process at postsynapse, modulating synaptic transmission | Any process that modulates synaptic transmission by regulating a catabolic process occurring at a postsynapse. |
| regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
| regulation of protein stability | Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation. |
| 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. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KHV7 | USP2 | Ubiquitin carboxyl-terminal hydrolase 2 | Bos taurus (Bovine) | PR |
| Q9Y2K6 | USP20 | Ubiquitin carboxyl-terminal hydrolase 20 | Homo sapiens (Human) | PR |
| P51784 | USP11 | Ubiquitin carboxyl-terminal hydrolase 11 | Homo sapiens (Human) | PR |
| O75604 | USP2 | Ubiquitin carboxyl-terminal hydrolase 2 | Homo sapiens (Human) | PR |
| Q53GS9 | USP39 | U4/U6.U5 tri-snRNP-associated protein 2 | Homo sapiens (Human) | PR |
| O88623 | Usp2 | Ubiquitin carboxyl-terminal hydrolase 2 | Mus musculus (Mouse) | PR |
| Q80U87 | Usp8 | Ubiquitin carboxyl-terminal hydrolase 8 | Mus musculus (Mouse) | PR |
| Q5U349 | Usp2 | Ubiquitin carboxyl-terminal hydrolase 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPAVASVPKE | LYLSSSLKDL | NKKTEVKPEK | ISTKSYVHSA | LKIFKTAEEC | RLDRDEERAY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VLYMKYVTVY | NLIKKRPDFK | QQQDYFHSIL | GPGNIKKAVE | EAERLSESLK | LRYEEAEVRK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLEEKDRQEE | AQRLQQKRQE | TGREDGGTLA | KGSLENVLDS | KDKTQKSNGE | KNEKCETKEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAITAKELYT | MMTDKNISLI | IMDARRMQDY | QDSCILHSLS | VPEEAISPGV | TASWIEAHLP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DDSKDTWKKR | GNVEYVVLLD | WFSSAKDLQI | GTTLRSLKDA | LFKWESKTVL | RNEPLVLEGG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YENWLLCYPQ | YTTNAKVTPP | PRRQNEEVSI | SLDFTYPSLE | ESIPSKPAAQ | TPPASIEVDE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NIELISGQNE | RMGPLNISTP | VEPVAASKSD | VSPIIQPVPS | IKNVPQIDRT | KKPAVKLPEE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HRIKSESTNH | EQQSPQSGKV | IPDRSTKPVV | FSPTLMLTDE | EKARIHAETA | LLMEKNKQEK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELRERQQEEQ | KEKLRKEEQE | QKAKKKQEAE | ENEITEKQQK | AKEEMEKKES | EQAKKEDKET |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SAKRGKEITG | VKRQSKSEHE | TSDAKKSVED | RGKRCPTPEI | QKKSTGDVPH | TSVTGDSGSG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KPFKIKGQPE | SGILRTGTFR | EDTDDTERNK | AQREPLTRAR | SEEMGRIVPG | LPSGWAKFLD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PITGTFRYYH | SPTNTVHMYP | PEMAPSSAPP | STPPTHKAKP | QIPAERDREP | SKLKRSYSSP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DITQAIQEEE | KRKPTVTPTV | NRENKPTCYP | KAEISRLSAS | QIRNLNPVFG | GSGPALTGLR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NLGNTCYMNS | ILQCLCNAPH | LADYFNRNCY | QDDINRSNLL | GHKGEVAEEF | GIIMKALWTG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QYRYISPKDF | KITIGKINDQ | FAGYSQQDSQ | ELLLFLMDGL | HEDLNKADNR | KRYKEENNDH |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LDDFKAAEHA | WQKHKQLNES | IIVALFQGQF | KSTVQCLTCH | KKSRTFEAFM | YLSLPLASTS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KCTLQDCLRL | FSKEEKLTDN | NRFYCSHCRA | RRDSLKKIEI | WKLPPVLLVH | LKRFSYDGRW |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KQKLQTSVDF | PLENLDLSQY | VIGPKNNLKK | YNLFSVSNHY | GGLDGGHYTA | YCKNAARQRW |
| 1090 | 1100 | 1110 | |||
| FKFDDHEVSD | ISVSSVKSSA | AYILFYTSLG | PRVTDVAT |