P52429
PR
Gene name |
DGKE (DAGK5) |
Protein name |
Diacylglycerol kinase epsilon |
Names |
DAG kinase epsilon, Diglyceride kinase epsilon, DGK-epsilon |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8526 |
EC number |
2.7.1.107: Phosphotransferases with an alcohol group as acceptor |
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 P52429
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P52429-F1 | Predicted | AlphaFoldDB |
472 variants for P52429
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001328196 rs1906465563 |
1 | M>L | Atypical hemolytic-uremic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM706760 RCV000043570 RCV000122612 rs148605410 CA143787 |
11 | S>* | lung Atypical hemolytic-uremic syndrome Hemolytic uremic syndrome, atypical, susceptibility to, 7 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP dbSNP |
|
RCV000268794 CA8663407 RCV000949004 rs146866423 RCV002294220 |
12 | P>L | Kidney disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000965392 RCV002294425 rs73994915 CA8663415 |
20 | G>E | Kidney disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000032778 rs398123008 CA130373 |
43 | Q>* | Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1482608926 RCV000625636 CA399921308 |
60 | H>D | Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs312262694 VAR_069804 RCV000043569 CA143786 |
63 | R>P | Hemolytic uremic syndrome, atypical, susceptibility to, 7 AHUS7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001280928 RCV002480930 CA399921555 rs775804689 |
78 | A>G | Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA399921914 rs777787526 RCV000515466 |
101 | K>* | Atypical hemolytic-uremic syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201209316 CA8663470 RCV002546672 RCV002546671 RCV001334158 |
101 | K>N | Inborn genetic diseases Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1906529223 RCV001250397 |
150 | K>missing | Hemolytic uremic syndrome, atypical, susceptibility to, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000122613 rs312262698 |
158 | W>missing | Atypical hemolytic-uremic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043568 rs312262699 RCV000122614 |
163 | V>missing | Atypical hemolytic-uremic syndrome Hemolytic uremic syndrome, atypical, susceptibility to, 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147972030 RCV001849287 RCV000032779 RCV002294380 RCV000786909 |
204 | T>missing | Nephrotic syndrome Atypical hemolytic-uremic syndrome Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064797074 RCV000487442 |
242 | I>* | Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000122615 RCV000043571 CA143789 rs312262695 VAR_069805 |
273 | R>P | Atypical hemolytic-uremic syndrome Hemolytic uremic syndrome, atypical, susceptibility to, 7 AHUS7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001201397 rs749415630 |
314 | N>K | Hemolytic uremic syndrome, atypical, susceptibility to, 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000122617 rs138924661 RCV000760165 CA332175 RCV001854681 RCV000043567 |
322 | W>* | Atypical hemolytic-uremic syndrome Hemolytic uremic syndrome, atypical, susceptibility to, 7 Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001334159 RCV002546673 rs1907467218 |
332 | V>A | Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA332170 RCV000122611 rs312262697 |
334 | Q>* | Atypical hemolytic-uremic syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762576212 RCV000625635 CA8663663 |
337 | R>* | Variant assessed as Somatic; 0.0 impact. Immunoglobulin-mediated membranoproliferative glomerulonephritis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1060499709 CA16609459 RCV000449615 |
390 | R>H | Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16609460 RCV000449567 rs1060499708 |
459 | W>* | Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567825026 RCV000786908 |
482 | V>missing | Immunoglobulin-mediated membranoproliferative glomerulonephritis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA399920172 rs1227124891 |
3 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 3 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765790817 CA8663399 |
4 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1323818712 CA399920211 |
5 | R>K | No |
ClinGen TOPMed |
|
|
rs750899526 CA8663400 |
7 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1486518180 CA399920280 |
7 | P>L | No |
ClinGen gnomAD |
|
|
CA399920271 rs750899526 |
7 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA399920307 rs752026075 |
8 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663403 rs752026075 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399920320 rs1464525023 |
9 | P>A | No |
ClinGen gnomAD |
|
|
CA8663405 rs777447868 |
10 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8663404 rs555438585 |
10 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA291896844 rs148605410 |
11 | S>W | No |
ClinGen ESP |
|
|
CA399920400 rs1392043399 |
12 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA291896849 rs914721678 |
13 | S>C | No |
ClinGen TOPMed |
|
|
CA399920523 rs1385761640 |
14 | E>G | No |
ClinGen gnomAD |
|
|
rs915669267 CA291896868 |
14 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA291896875 rs915669267 |
14 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399920558 rs1433746703 |
15 | G>V | No |
ClinGen gnomAD |
|
|
CA8663411 rs775145361 |
16 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317914274 CA399920625 |
17 | F>L | No |
ClinGen gnomAD |
|
|
CA399920616 rs1301085394 |
17 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA291896879 rs373335233 CA399920711 |
20 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663414 rs373335233 |
20 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663416 rs765244770 |
21 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1266323191 CA399920788 |
22 | L>Q | No |
ClinGen gnomAD |
|
|
CA291896886 rs938951070 |
22 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773398906 CA8663417 |
23 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409732128 CA399920825 |
24 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8663419 rs766947676 |
25 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA8663420 rs375106157 |
26 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1351245490 CA399920862 |
27 | L>V | No |
ClinGen gnomAD |
|
|
rs1352363942 CA399920876 |
28 | C>R | No |
ClinGen TOPMed |
|
|
CA399920891 rs1433783652 |
28 | C>W | No |
ClinGen gnomAD |
|
|
CA399920898 rs1374447524 |
29 | S>* | No |
ClinGen gnomAD |
|
|
CA291896907 rs910010207 |
29 | S>A | No |
ClinGen gnomAD |
|
|
CA399920900 rs1374447524 |
29 | S>L | No |
ClinGen gnomAD |
|
|
CA399920899 rs1374447524 |
29 | S>W | No |
ClinGen gnomAD |
|
|
rs759913694 CA8663421 |
30 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs376469683 CA8663422 |
33 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399920988 rs1598010433 |
34 | V>G | No |
ClinGen Ensembl |
|
|
rs756703489 CA8663424 |
34 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1184132450 CA399921038 |
38 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1184132450 CA399921037 |
38 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8663427 rs201377251 |
39 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399921098 rs780090113 |
41 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663428 rs780090113 |
41 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746752889 CA8663429 |
42 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746752889 CA399921107 |
42 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs781507429 COSM561650 CA8663431 |
44 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA399921153 rs1598010533 |
45 | S>A | No |
ClinGen Ensembl |
|
|
rs1163604709 CA399921166 |
46 | R>C | No |
ClinGen gnomAD |
|
|
CA399921184 rs748367577 |
47 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8663432 rs748367577 |
47 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773132460 CA8663434 |
48 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs773132460 CA399921190 |
48 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1350263987 CA399921252 |
52 | R>K | No |
ClinGen gnomAD |
|
|
rs558221360 CA291896988 |
53 | D>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1567806847 CA399921272 |
55 | F>L | No |
ClinGen Ensembl |
|
|
rs373991932 CA8663437 |
56 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759825918 CA8663438 |
56 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1272143279 CA399921294 |
58 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753122117 CA8663440 |
60 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA399921309 rs1482608926 |
60 | H>Y | No |
ClinGen gnomAD |
|
|
rs764983358 CA8663442 |
61 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs764983358 CA8663443 COSM120120 |
61 | G>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA399921318 rs1598010725 |
62 | W>G | No |
ClinGen Ensembl |
|
|
rs368624469 CA8663446 |
63 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663445 rs368624469 |
63 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399921337 rs1450878792 |
64 | D>E | No |
ClinGen gnomAD |
|
|
rs1402720870 CA399921339 |
65 | T>A | No |
ClinGen gnomAD |
|
|
CA291897027 rs998811612 |
67 | L>P | No |
ClinGen Ensembl |
|
|
CA8663449 rs747995629 |
69 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781129488 CA8663448 |
69 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8663450 rs769882986 |
71 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1462738297 CA399921474 |
73 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA399921469 rs1284436449 |
73 | Y>C | No |
ClinGen TOPMed |
|
|
rs749284912 CA8663453 |
75 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA8663455 rs562198537 |
75 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760028073 CA8663456 |
76 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1341139463 CA399921517 |
76 | V>L | No |
ClinGen gnomAD |
|
|
rs1313592332 CA399921532 |
77 | C>R | No |
ClinGen TOPMed |
|
|
CA8663457 rs772637651 |
78 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs775804689 CA8663458 |
78 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663459 rs143468147 |
79 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA291897114 rs773920210 |
81 | I>M | No |
ClinGen gnomAD |
|
|
CA291897133 rs879047850 |
83 | Q>* | No |
ClinGen Ensembl |
|
|
CA8663462 rs762304023 |
85 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA399921721 rs1423669427 |
88 | D>Y | No |
ClinGen gnomAD |
|
|
CA399921763 rs1160481595 |
90 | C>R | No |
ClinGen gnomAD |
|
|
CA399921788 rs1320120680 |
91 | G>E | No |
ClinGen gnomAD |
|
|
CA8663465 CA399921781 rs754934356 |
91 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA399921801 rs1404587799 |
93 | R>C | No |
ClinGen TOPMed |
|
|
CA399921798 rs1404587799 |
93 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 96 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342618191 CA399921865 |
97 | G>R | No |
ClinGen gnomAD |
|
|
rs1268716733 CA399921893 |
99 | L>F | No |
ClinGen gnomAD |
|
| VAR_036120 | 99 | L>R | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA399921910 rs969844522 |
100 | R>S | No |
ClinGen TOPMed |
|
|
rs777787526 CA8663469 |
101 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242360342 CA399921937 |
102 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8663471 rs757482556 |
103 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291897186 rs200324699 |
104 | K>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA399921968 rs1200565530 |
105 | R>C | No |
ClinGen gnomAD |
|
|
CA399921970 rs1245283449 |
105 | R>H | No |
ClinGen gnomAD |
|
|
CA8663473 rs745990961 |
106 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8663474 rs201997595 |
106 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 106 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399922053 rs1455705467 |
109 | K>R | No |
ClinGen gnomAD |
|
|
CA291897210 rs915029037 |
110 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1395324030 CA399922139 |
112 | M>I | No |
ClinGen gnomAD |
|
|
rs1407222746 CA399922147 |
113 | L>F | No |
ClinGen gnomAD |
|
|
rs776001127 CA8663475 |
114 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA291897215 rs564611390 |
114 | K>R | No |
ClinGen Ensembl |
|
|
rs747298055 CA399922188 |
115 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA8663476 rs747298055 |
115 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA399922198 rs1435559196 |
115 | N>S | No |
ClinGen gnomAD |
|
|
CA399922234 rs1270817942 |
116 | D>E | No |
ClinGen TOPMed |
|
|
CA399922224 rs1364127172 |
116 | D>G | No |
ClinGen TOPMed |
|
|
rs148908859 CA399922248 |
117 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs148908859 CA291897219 |
117 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1266875850 CA399922320 |
119 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs762662843 CA8663479 |
119 | V>I | No |
ClinGen ExAC |
|
|
CA399922407 rs1270244894 |
123 | M>I | No |
ClinGen gnomAD |
|
|
rs767519633 CA8663483 |
123 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA399922433 rs1567807426 |
125 | H>R | No |
ClinGen Ensembl |
|
|
rs938904565 CA291897277 |
126 | H>Y | No |
ClinGen TOPMed |
|
|
rs1488289743 CA399922463 |
127 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1190110291 CA399922473 |
128 | I>M | No |
ClinGen TOPMed |
|
|
rs755804606 CA8663486 |
129 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752681978 CA8663485 |
129 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8663487 rs763932703 |
131 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA399922509 rs1270507707 |
132 | V>M | No |
ClinGen TOPMed |
|
|
rs757444386 CA399922539 |
135 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663489 rs757444386 |
135 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3983560 rs1567807518 CA399922575 |
137 | Y>* | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA291897307 rs922860341 |
137 | Y>H | No |
ClinGen Ensembl |
|
|
CA8663490 rs779158220 |
138 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1407848078 CA399922591 |
139 | M>V | No |
ClinGen gnomAD |
|
|
rs745902152 CA8663491 |
142 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA399922648 rs1340500871 |
143 | Q>E | No |
ClinGen gnomAD |
|
|
CA399922673 rs1273869243 |
144 | Q>R | No |
ClinGen TOPMed |
|
|
rs758506570 CA8663492 |
145 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399922746 rs1598011601 |
147 | C>W | No |
ClinGen Ensembl |
|
|
rs1355274902 CA399922735 |
147 | C>Y | No |
ClinGen gnomAD |
|
|
CA8663494 rs747565175 |
149 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663495 rs769109284 |
150 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs946844153 CA291897323 |
152 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA291897324 rs767517741 |
153 | D>E | No |
ClinGen Ensembl |
|
|
CA399922858 rs1425598376 |
153 | D>G | No |
ClinGen gnomAD |
|
|
rs777022657 CA8663496 |
153 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748508357 CA8663497 |
154 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA399922899 rs1450264268 |
155 | R>G | No |
ClinGen gnomAD |
|
|
rs1267736533 CA399925936 |
162 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 162 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434704796 CA399925948 |
164 | H>N | No |
ClinGen gnomAD |
|
|
CA291904463 rs970785170 |
165 | D>H | No |
ClinGen TOPMed |
|
|
rs759994160 CA8663521 |
165 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs966154306 CA399925982 |
166 | E>D | No |
ClinGen gnomAD |
|
|
rs1428563626 CA399925971 |
166 | E>K | No |
ClinGen gnomAD |
|
|
CA399925991 rs1160817377 |
167 | C>Y | No |
ClinGen gnomAD |
|
|
rs1293783964 CA399926017 |
168 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA291904504 rs867685255 |
168 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1244150953 CA399926055 |
171 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1181441429 CA399926120 |
175 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 176 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs926471081 CA291904559 |
178 | D>G | No |
ClinGen TOPMed |
|
|
rs200696523 CA291904539 |
178 | D>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1351720702 CA399926245 |
183 | K>R | No |
ClinGen gnomAD |
|
|
CA8663526 rs750278156 |
187 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs61751969 CA399926311 |
188 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61751969 CA8663527 |
188 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663528 RCV000788247 rs376400766 |
190 | S>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1267503868 CA399926384 |
193 | T>I | No |
ClinGen gnomAD |
|
|
CA8663531 rs781673543 |
195 | I>M | No |
ClinGen ExAC TOPMed |
|
|
CA291904610 rs967017280 |
195 | I>V | No |
ClinGen TOPMed |
|
|
CA291904638 rs1047366372 |
197 | Q>* | No |
ClinGen TOPMed |
|
|
CA399926441 rs1201131211 |
197 | Q>H | No |
ClinGen TOPMed |
|
|
rs753267693 CA399926464 |
199 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs753267693 CA8663532 |
199 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8663533 rs756738955 |
199 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778274216 CA8663534 |
200 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA8663536 rs370201438 |
201 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663535 rs370201438 |
201 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399926523 rs1338042777 |
202 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 203 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8663539 rs779598425 |
204 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663538 rs779598425 |
204 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs147972030 | 204 | T>N | Variant assessed as Somatic; 5.024e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs147972030 | 204 | T>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418022874 CA399926577 |
205 | D>G | No |
ClinGen gnomAD |
|
|
CA399926611 rs1165011956 |
207 | E>G | No |
ClinGen gnomAD |
|
|
rs768056634 CA8663540 |
208 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1351301690 CA399926616 |
208 | V>M | No |
ClinGen gnomAD |
|
|
rs200253169 CA8663566 |
209 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201970745 CA8663568 |
210 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1306910008 CA399926652 |
211 | S>P | No |
ClinGen gnomAD |
|
|
rs1238542643 CA399926660 |
212 | K>M | No |
ClinGen gnomAD |
|
|
rs1189663693 CA399926668 |
213 | L>H | No |
ClinGen TOPMed |
|
|
CA399926674 rs1210748351 |
214 | G>V | No |
ClinGen gnomAD |
|
|
CA399926708 rs1443240645 |
218 | T>I | No |
ClinGen TOPMed |
|
|
rs1057146710 CA291905762 |
225 | N>S | No |
ClinGen gnomAD |
|
|
CA399926799 rs1167165089 |
226 | S>C | No |
ClinGen gnomAD |
|
|
rs754404145 CA8663573 |
227 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663574 rs757585573 |
227 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8663575 rs765508973 |
228 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1598027097 CA399926828 |
229 | G>E | No |
ClinGen Ensembl |
|
|
rs750866589 CA8663576 |
229 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1321430551 CA399926857 |
231 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 231 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780844760 CA8663578 |
232 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663577 rs754556879 |
232 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399926860 rs1227653538 |
232 | M>V | No |
ClinGen TOPMed |
|
|
rs201154049 CA8663580 |
238 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663584 rs778536839 |
246 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1356684612 CA399927085 |
252 | V>I | No |
ClinGen gnomAD |
|
|
CA399927095 rs1229695028 |
253 | T>I | No |
ClinGen gnomAD |
|
|
rs776544681 CA8663612 |
254 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1439397970 CA399927102 |
254 | K>N | No |
ClinGen gnomAD |
|
|
rs1598030392 CA399927109 |
255 | T>I | No |
ClinGen Ensembl |
|
|
rs1490298936 CA399927110 |
256 | P>A | No |
ClinGen gnomAD |
|
|
rs1206440405 CA399927115 |
256 | P>L | No |
ClinGen gnomAD |
|
|
rs1049451304 CA291907657 |
257 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399927117 rs1049451304 |
257 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs943486760 CA291907665 |
258 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770159608 CA8663614 |
259 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs138464211 CA399927145 |
262 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138464211 CA8663618 |
262 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138464211 CA8663619 |
262 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663620 rs763782896 |
265 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423822187 CA399927206 |
267 | L>I | No |
ClinGen gnomAD |
|
|
CA8663622 rs539590607 |
269 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1456664574 CA399927230 |
269 | Y>H | No |
ClinGen gnomAD |
|
|
CA8663623 rs765019786 |
270 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA399927282 rs750391888 |
273 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs312262695 CA399927287 |
273 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs312262695 CA8663625 |
273 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663626 rs374631132 |
275 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1312495887 CA399927314 |
276 | V>F | No |
ClinGen gnomAD |
|
|
CA291907786 rs12601812 |
277 | C>* | No |
ClinGen Ensembl |
|
|
rs746840886 CA8663627 |
280 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663628 rs755230915 |
281 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1337950463 CA399927416 |
284 | G>A | No |
ClinGen gnomAD |
|
|
rs748107737 CA8663631 |
289 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs918863569 CA8663632 |
290 | V>A | No |
ClinGen Ensembl |
|
|
rs1181954531 CA399927504 |
292 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs369455582 CA8663634 |
293 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369455582 CA399927517 |
293 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8663635 rs773222196 |
295 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773222196 CA291907814 |
295 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302582956 CA399927686 |
300 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399927707 rs1222236677 |
301 | Y>F | No |
ClinGen gnomAD |
|
|
rs1388160841 CA399927731 |
303 | P>S | No |
ClinGen TOPMed |
|
|
rs756357670 CA8663653 |
304 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA291908466 rs1038384139 |
306 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs777875736 CA8663654 |
309 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1204390591 CA399927825 |
311 | G>R | No |
ClinGen gnomAD |
|
|
CA399927852 rs1461794172 |
315 | D>H | No |
ClinGen TOPMed |
|
|
rs1197224876 CA399927860 |
316 | L>V | No |
ClinGen gnomAD |
|
|
CA399927866 rs1472659928 |
317 | S>A | No |
ClinGen gnomAD |
|
|
rs1160802291 CA399927874 |
318 | N>S | No |
ClinGen gnomAD |
|
|
CA8663657 rs774867964 |
321 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA291908492 rs200528872 |
321 | G>V | No |
ClinGen TOPMed |
|
|
rs746167490 CA8663658 |
322 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA399927902 rs1403597745 |
323 | G>S | No |
ClinGen gnomAD |
|
|
rs1435139148 CA773369855 |
326 | Y>* | No |
ClinGen TOPMed |
|
|
CA291908532 rs1029933578 |
331 | P>A | No |
ClinGen TOPMed |
|
|
rs149433337 CA8663660 |
333 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA399927976 rs1305110428 |
334 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA291908578 rs368125102 |
337 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368125102 COSM561647 CA8663664 |
337 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA399927993 rs1210259742 |
338 | N>H | No |
ClinGen Ensembl |
|
|
rs371285031 CA8663665 |
338 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268143568 CA399928000 |
339 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA291908594 rs1017948303 |
340 | M>V | No |
ClinGen TOPMed |
|
|
rs1567816373 CA399928015 |
341 | E>Q | No |
ClinGen Ensembl |
|
|
rs752471158 CA8663668 |
342 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767338282 CA8663667 |
342 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752471158 CA399928024 |
342 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405183242 CA399928026 |
343 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399928031 rs1430958659 |
343 | D>V | No |
ClinGen TOPMed |
|
|
CA399928039 rs1171912851 |
344 | G>V | No |
ClinGen TOPMed |
|
|
rs1165081063 CA399928059 |
347 | L>P | No |
ClinGen gnomAD |
|
|
rs1418081607 CA399928056 |
347 | L>V | No |
ClinGen gnomAD |
|
|
CA8663670 rs777877548 |
348 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3421721 rs753872019 CA399928068 |
349 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8663673 rs757336402 |
349 | R>L | No |
ClinGen ExAC TOPMed |
|
|
rs757336402 CA399928070 |
349 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
CA291908973 rs200272547 |
350 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA8663692 rs200272547 |
350 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1362438579 CA399928091 |
351 | K>E | No |
ClinGen gnomAD |
|
|
CA291908979 rs199990750 |
352 | V>A | No |
ClinGen 1000Genomes |
|
|
rs750512560 CA8663694 |
353 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1404247469 CA399928124 |
356 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1030702730 CA291908991 |
359 | Y>H | No |
ClinGen TOPMed |
|
|
rs780449140 CA8663697 |
361 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663698 rs780449140 |
361 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663699 rs768908823 |
362 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1367992713 CA399928212 |
364 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8663700 rs74815275 |
366 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751994856 CA8663717 |
367 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA291877754 rs762791909 |
369 | T>K | No |
ClinGen Ensembl |
|
|
CA8663719 rs781661625 |
370 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs748572065 CA8663720 |
372 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs756916762 CA8663721 |
373 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA291877770 rs142444960 |
377 | G>V | No |
ClinGen ESP |
|
|
rs745306422 CA8663723 |
378 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1279767089 CA399905587 |
378 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399905590 rs1393027709 |
379 | D>N | No |
ClinGen TOPMed |
|
|
rs1283942184 CA399905605 |
381 | L>I | No |
ClinGen gnomAD |
|
|
CA8663724 rs771492726 |
381 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs376884670 CA8663725 |
382 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663726 rs145980200 |
385 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768623816 CA399905656 |
388 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8663727 rs768623816 |
388 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8663728 rs776393370 |
389 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663729 rs761618548 |
390 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8663731 rs773312573 |
393 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA291877804 rs551319122 |
395 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8663733 rs551319122 |
395 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399905744 rs1404263029 |
396 | L>V | No |
ClinGen gnomAD |
|
|
CA291877807 rs1027342110 |
398 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA291877809 rs1027342110 |
398 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 398 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439519433 CA399905820 |
400 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA291878440 rs1021695324 |
405 | A>T | No |
ClinGen Ensembl |
|
|
CA8663748 rs769591760 |
405 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1202033040 CA399906076 |
406 | V>F | No |
ClinGen gnomAD |
|
|
CA399906085 rs1598046190 |
406 | V>G | No |
ClinGen Ensembl |
|
|
rs1240995764 CA399906119 |
409 | F>L | No |
ClinGen gnomAD |
|
|
CA291878449 rs370690011 |
415 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763052903 CA8663750 |
417 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs562050880 CA291878455 |
418 | Q>* | No |
ClinGen gnomAD |
|
|
rs562050880 CA399906313 |
418 | Q>K | No |
ClinGen gnomAD |
|
|
CA291878460 rs966966970 |
420 | C>F | No |
ClinGen TOPMed |
|
|
CA8663752 rs774246667 |
420 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA8663754 rs768067588 |
426 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA399906841 rs761319737 |
428 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8663755 rs753267548 |
428 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1419254406 CA399908741 |
430 | E>* | No |
ClinGen gnomAD |
|
|
rs546285860 CA291879350 |
431 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1362392162 CA399908774 |
432 | D>N | No |
ClinGen gnomAD |
|
|
CA291879352 rs887079494 |
435 | R>Q | No |
ClinGen TOPMed |
|
|
CA8663786 rs748965902 |
436 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1164758538 CA399908867 |
436 | V>I | No |
ClinGen gnomAD |
|
|
rs1403641711 CA399908885 |
437 | A>E | No |
ClinGen gnomAD |
|
|
rs778907403 CA8663788 |
440 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399908999 rs1393315974 |
442 | E>G | No |
ClinGen gnomAD |
|
|
CA8663789 rs746081603 |
443 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs143346779 CA8663790 |
444 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs61751971 CA399909085 |
448 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542512687 CA8663793 |
450 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372208673 CA291879370 |
451 | Y>C | No |
ClinGen Ensembl |
|
|
CA8663794 rs777204294 |
451 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA8663796 rs765623858 |
454 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA399909170 rs1480696814 |
454 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1480696814 CA399909168 |
454 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1598050555 CA399909272 |
460 | E>G | No |
ClinGen Ensembl |
|
|
CA399909286 rs1235326725 |
461 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8663797 rs773636431 CA8663798 |
461 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312658208 CA399909295 |
462 | M>L | No |
ClinGen TOPMed |
|
|
CA399909293 rs1312658208 |
462 | M>V | No |
ClinGen TOPMed |
|
|
CA399909330 rs1598050593 |
464 | D>G | No |
ClinGen Ensembl |
|
|
CA8663800 rs752159238 |
464 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763880430 CA8663802 |
465 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453677018 CA399909395 |
468 | P>H | No |
ClinGen gnomAD |
|
|
CA291879384 rs755411164 |
468 | P>S | No |
ClinGen gnomAD |
|
|
rs367589588 CA8663804 |
469 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663825 rs201554828 |
472 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8663826 rs747244669 |
472 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs781303676 CA8663828 |
474 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA399909503 rs1277885219 |
475 | G>D | No |
ClinGen TOPMed |
|
|
rs1598050958 CA399909522 |
476 | L>P | No |
ClinGen Ensembl |
|
|
CA291879475 rs374140693 |
476 | L>V | No |
ClinGen ESP gnomAD |
|
|
rs549426255 CA8663831 |
480 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8663833 rs771271385 |
481 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA399909699 rs1175017313 |
483 | Y>C | No |
ClinGen gnomAD |
|
|
rs774644426 CA8663834 |
483 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 486 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345588714 CA399909815 |
488 | C>F | No |
ClinGen gnomAD |
|
|
CA399909842 rs1432755986 |
490 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 491 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8663835 rs760341635 |
492 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1388934422 CA399909947 |
494 | K>* | No |
ClinGen TOPMed |
|
| TCGA novel | 495 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8663837 rs776159129 |
498 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1342368899 COSM173559 CA399910099 |
500 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA8663839 rs369616072 |
500 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA8663838 rs369616072 |
500 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA399910121 rs1446125862 |
501 | I>T | No |
ClinGen gnomAD |
|
|
rs750403570 CA8663840 |
502 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1215060627 CA399910195 |
505 | H>N | No |
ClinGen gnomAD |
|
|
rs899909594 CA291879505 |
506 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1490532514 CA399910272 |
508 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399910452 rs1234870542 |
511 | L>W | No |
ClinGen gnomAD |
|
|
rs749789984 CA8663850 |
513 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA291879630 COSM1494025 rs903103307 |
514 | S>C | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs771467239 CA8663851 |
515 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663852 rs546081906 |
516 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA291879636 rs1035375879 |
518 | M>V | No |
ClinGen gnomAD |
|
|
CA8663854 rs768315751 |
523 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA399910646 rs1355850625 |
524 | P>A | No |
ClinGen gnomAD |
|
|
CA8663855 rs776153408 |
524 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8663857 rs778369845 |
525 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA399910678 rs1248760741 |
526 | A>P | No |
ClinGen gnomAD |
|
|
rs986908475 CA291879666 |
530 | C>G | No |
ClinGen TOPMed |
|
|
CA8663860 rs766278449 |
530 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA399910768 rs1275227484 |
533 | T>P | No |
ClinGen gnomAD |
|
|
rs1412591907 CA399910778 |
533 | T>S | No |
ClinGen TOPMed |
|
|
rs1237311840 CA399910788 |
534 | I>M | No |
ClinGen gnomAD |
|
|
rs1198291682 CA399910782 |
534 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200594428 CA8663861 |
535 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs991221145 CA291879677 |
536 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA291879674 rs958591596 |
536 | H>Y | No |
ClinGen Ensembl |
|
|
CA8663862 rs759251106 |
537 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 538 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472430158 CA399910845 |
538 | T>R | No |
ClinGen gnomAD |
|
|
rs1264616823 CA399910859 |
539 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1283995836 CA399910870 |
540 | A>S | No |
ClinGen TOPMed |
|
|
CA8663864 rs752899205 |
541 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756395032 CA8663865 |
542 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA399910906 rs1463697872 |
542 | M>T | No |
ClinGen gnomAD |
|
|
rs1454965938 CA399911026 |
550 | T>A | No |
ClinGen gnomAD |
|
|
rs753966757 CA8663867 |
551 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1317783301 CA399911042 |
551 | D>N | No |
ClinGen TOPMed |
|
|
rs149958932 CA8663868 |
552 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399911123 rs1247864572 |
555 | S>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 555 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8663870 rs746177253 |
556 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA8663871 rs758703206 |
556 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8663872 rs780529593 |
558 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663874 rs561594713 |
560 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399911178 rs561594713 |
560 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs61751972 RCV000395700 CA8663875 |
560 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399911235 rs1428960040 |
562 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8663876 rs748835865 |
562 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399911253 rs141588701 |
563 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663878 rs767939518 |
563 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8663877 rs141588701 |
563 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8663880 rs547304654 |
565 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA399911346 rs1429634898 |
567 | E>K | No |
ClinGen gnomAD |
2 associated diseases with P52429
[MIM: 615008]: Nephrotic syndrome 7 (NPHS7)
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. {ECO:0000269|PubMed:23274426}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 615008]: Hemolytic uremic syndrome atypical 7 (AHUS7)
An atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system. {ECO:0000269|PubMed:23542698}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. {ECO:0000269|PubMed:23274426}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system. {ECO:0000269|PubMed:23542698}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
4 regional properties for P52429
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Diacylglycerol kinase, accessory domain | 369 - 524 | IPR000756 |
| domain | Diacylglycerol kinase, catalytic domain | 215 - 356 | IPR001206 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 58 - 109 | IPR002219-1 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 124 - 177 | IPR002219-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.107 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 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. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| diacylglycerol kinase activity | Catalysis of the reaction: NTP + 1,2-diacylglycerol = NDP + 1,2-diacylglycerol-3-phosphate. |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| metal ion binding | Binding to a metal ion. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| diacylglycerol metabolic process | The chemical reactions and pathways involving diacylglycerol, a glyceride in which any two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| lipid phosphorylation | The process of introducing one or more phosphate groups into a lipid, any member of a group of substances soluble in lipid solvents but only sparingly soluble in aqueous solvents. |
| modulation of chemical synaptic transmission | Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. |
| phosphatidic acid biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidic acid, any derivative of glycerol phosphate in which both the remaining hydroxyl groups of the glycerol moiety are esterified with fatty acids. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
| protein kinase C-activating G protein-coupled receptor signaling pathway | The series of molecular signals generated as a consequence of a G protein-coupled receptor binding to its physiological ligand, where the pathway proceeds with activation of protein kinase C (PKC). PKC is activated by second messengers including diacylglycerol (DAG). |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5KSL6 | DGKK | Diacylglycerol kinase kappa | Homo sapiens (Human) | PR |
| Q86XP1 | DGKH | Diacylglycerol kinase eta | Homo sapiens (Human) | PR |
| O88673 | Dgka | Diacylglycerol kinase alpha | Mus musculus (Mouse) | PR |
| Q6P5E8 | Dgkq | Diacylglycerol kinase theta | Mus musculus (Mouse) | PR |
| Q91WG7 | Dgkg | Diacylglycerol kinase gamma | Mus musculus (Mouse) | PR |
| P20192 | DGKA | Diacylglycerol kinase alpha | Sus scrofa (Pig) | PR |
| P49620 | Dgkg | Diacylglycerol kinase gamma | Rattus norvegicus (Rat) | PR |
| P51556 | Dgka | Diacylglycerol kinase alpha | Rattus norvegicus (Rat) | PR |
| Q8VZG1 | DGK3 | Diacylglycerol kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FFN7 | DGK2 | Diacylglycerol kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAERRPAPG | SPSEGLFADG | HLILWTLCSV | LLPVFITFWC | SLQRSRRQLH | RRDIFRKSKH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GWRDTDLFSQ | PTYCCVCAQH | ILQGAFCDCC | GLRVDEGCLR | KADKRFQCKE | IMLKNDTKVL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DAMPHHWIRG | NVPLCSYCMV | CKQQCGCQPK | LCDYRCIWCQ | KTVHDECMKN | SLKNEKCDFG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EFKNLIIPPS | YLTSINQMRK | DKKTDYEVLA | SKLGKQWTPL | IILANSRSGT | NMGEGLLGEF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RILLNPVQVF | DVTKTPPIKA | LQLCTLLPYY | SARVLVCGGD | GTVGWVLDAV | DDMKIKGQEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YIPQVAVLPL | GTGNDLSNTL | GWGTGYAGEI | PVAQVLRNVM | EADGIKLDRW | KVQVTNKGYY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NLRKPKEFTM | NNYFSVGPDA | LMALNFHAHR | EKAPSLFSSR | ILNKAVYLFY | GTKDCLVQEC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KDLNKKVELE | LDGERVALPS | LEGIIVLNIG | YWGGGCRLWE | GMGDETYPLA | RHDDGLLEVV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GVYGSFHCAQ | IQVKLANPFR | IGQAHTVRLI | LKCSMMPMQV | DGEPWAQGPC | TVTITHKTHA |
| 550 | 560 | ||||
| MMLYFSGEQT | DDDISSTSDQ | EDIKATE |