P04843
Gene name |
RPN1 |
Protein name |
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 |
Names |
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 67 kDa subunit, Ribophorin I, RPN-I, Ribophorin-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6184 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for P04843
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6S7O | EM | 350 A | E | 1-607 | PDB |
| 6S7T | EM | 350 A | E | 1-607 | PDB |
| 8B6L | EM | 760 A | O | 1-607 | PDB |
| AF-P04843-F1 | Predicted | AlphaFoldDB |
466 variants for P04843
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1220887069 CA354429057 |
2 | E>G | No |
ClinGen TOPMed |
|
|
CA354429053 rs1266031477 |
3 | A>T | No |
ClinGen TOPMed |
|
|
rs1425806742 CA354429049 |
3 | A>V | No |
ClinGen gnomAD |
|
|
rs1045907278 CA82554365 |
4 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs749704337 CA2600740 |
4 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82554360 rs749704337 |
4 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045907278 CA354429047 |
4 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354429039 rs1482450054 |
5 | A>V | No |
ClinGen gnomAD |
|
|
rs1218824277 CA354429037 |
6 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746362304 CA2600737 |
6 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1361136875 CA354429022 |
8 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs373598717 CA2600734 |
11 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296138285 CA354428996 |
13 | L>V | No |
ClinGen TOPMed |
|
|
CA354428980 rs1394233888 |
15 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA354428977 rs778452718 |
16 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600732 rs144093169 |
16 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778452718 CA2600733 |
16 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402780123 CA354428973 |
17 | W>R | No |
ClinGen gnomAD |
|
|
rs576141594 CA2600730 |
18 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354428955 rs1216267742 |
19 | P>R | No |
ClinGen TOPMed |
|
|
rs1369138221 CA354428950 |
20 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354428954 rs1484482859 |
20 | A>T | No |
ClinGen TOPMed |
|
|
CA354428949 rs1369138221 |
20 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750296401 CA2600727 |
21 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354428944 rs750296401 |
21 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354428945 rs750296401 |
21 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966631320 CA82554231 |
22 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs996220316 CA82554228 |
23 | S>R | No |
ClinGen TOPMed |
|
|
CA354428930 rs1156847387 |
24 | A>T | No |
ClinGen TOPMed |
|
|
rs767685550 CA2600726 |
25 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82554226 rs554382484 |
26 | S>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs868164295 CA82554225 |
27 | E>* | No |
ClinGen Ensembl |
|
|
CA354428909 rs1356368738 |
27 | E>D | No |
ClinGen gnomAD |
|
|
CA82554219 rs1008831447 |
28 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1382007432 CA354428899 |
29 | P>L | No |
ClinGen gnomAD |
|
|
CA82554217 rs377310976 |
29 | P>S | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1309672978 CA354428893 |
30 | P>L | No |
ClinGen gnomAD |
|
|
rs1450475252 CA354428898 |
30 | P>S | No |
ClinGen TOPMed |
|
|
rs151009188 CA2600725 |
33 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2600724 rs151009188 |
33 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1271565415 CA354428870 |
34 | E>A | No |
ClinGen gnomAD |
|
|
rs1391486751 CA354428866 |
35 | D>N | No |
ClinGen gnomAD |
|
|
CA354428842 rs1165091655 |
38 | R>C | No |
ClinGen gnomAD |
|
|
rs866036473 CA82554201 |
38 | R>L | No |
ClinGen Ensembl |
|
|
CA354428835 rs1385207500 |
39 | T>R | No |
ClinGen gnomAD |
|
|
CA2600722 rs763207572 |
40 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354428832 rs1441998204 |
40 | V>L | No |
ClinGen gnomAD |
|
|
CA2600720 rs770275111 |
41 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 42 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354428809 rs1318747283 |
43 | S>R | No |
ClinGen gnomAD |
|
|
rs1291374376 CA354428804 |
44 | S>N | No |
ClinGen gnomAD |
|
|
CA82554185 rs868343808 |
45 | H>N | No |
ClinGen Ensembl |
|
|
CA354428788 rs1286721614 |
46 | L>R | No |
ClinGen gnomAD |
|
|
CA82554177 rs1001645398 |
47 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA354428780 rs1374293090 |
48 | K>Q | No |
ClinGen gnomAD |
|
|
CA82554149 rs867806791 |
50 | T>M | No |
ClinGen Ensembl |
|
|
rs1294495367 CA354428763 |
51 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA82554143 rs866131234 |
52 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 52 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427230616 CA354428753 |
52 | E>V | No |
ClinGen TOPMed |
|
|
rs369177619 CA2600714 |
54 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468432433 CA354428728 |
57 | H>N | No |
ClinGen TOPMed |
|
|
CA354428723 rs1365496545 |
57 | H>P | No |
ClinGen gnomAD |
|
|
rs1159722202 CA354428719 |
58 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1466709842 CA354428715 |
59 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2600713 rs748937023 |
59 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA354428707 rs1158376265 |
60 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs13064039 CA82554128 |
61 | G>A | No |
ClinGen Ensembl |
|
|
CA2600711 rs755882055 |
62 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354428690 rs750187506 |
63 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600710 rs750187506 |
63 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490026517 CA354428685 |
64 | S>C | No |
ClinGen gnomAD |
|
|
rs1263275642 CA354428683 |
65 | R>G | No |
ClinGen gnomAD |
|
|
CA82554090 rs376842979 |
65 | R>L | No |
ClinGen ESP gnomAD |
|
|
rs376842979 CA82554093 |
65 | R>Q | No |
ClinGen ESP gnomAD |
|
|
rs1283262254 CA354428680 |
66 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82554080 rs1047995254 |
67 | T>P | No |
ClinGen gnomAD |
|
|
rs13064206 CA82554046 |
68 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs13064206 CA2600708 |
68 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751607930 CA354428658 |
69 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA354428653 rs1321937720 |
70 | L>Q | No |
ClinGen TOPMed |
|
|
COSM249338 CA2600706 rs764252299 |
73 | L>F | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs1344891575 CA354428639 |
73 | L>S | No |
ClinGen gnomAD |
|
|
rs534980644 CA82554038 |
75 | P>R | No |
ClinGen 1000Genomes |
|
|
CA354428612 rs1201857324 |
77 | L>F | No |
ClinGen TOPMed |
|
|
rs930861339 CA82554034 |
79 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA354428592 rs1190343292 |
80 | R>L | No |
ClinGen TOPMed |
|
|
rs924244119 CA82554025 |
80 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1576801800 CA354428581 |
82 | A>G | No |
ClinGen Ensembl |
|
|
rs1415459324 CA354428557 |
86 | V>A | No |
ClinGen gnomAD |
|
|
rs920294633 CA82554023 |
87 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775820476 CA2600704 |
87 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 87 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 88 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354428529 rs1377173099 |
89 | K>R | No |
ClinGen gnomAD |
|
|
rs1314477985 CA354428518 |
91 | E>K | No |
ClinGen gnomAD |
|
|
rs765587366 CA2600686 |
93 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs754166351 CA2600684 |
94 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2600683 rs766763619 |
95 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA354428484 rs1235652314 |
95 | E>D | No |
ClinGen TOPMed |
|
|
CA82548996 rs376078228 |
95 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA354428478 rs1406994811 |
96 | N>I | No |
ClinGen gnomAD |
|
|
rs749217052 CA82548985 |
96 | N>K | No |
ClinGen TOPMed |
|
|
rs761128742 CA2600682 |
97 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1182736261 CA354428452 |
100 | V>I | No |
ClinGen gnomAD |
|
|
CA2600681 rs552831968 |
101 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2600680 rs199783080 |
101 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1157120868 CA354428444 |
102 | E>K | No |
ClinGen TOPMed |
|
|
rs762485457 CA2600679 |
108 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs774919109 CA2600678 |
109 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA354427705 rs1478223081 |
109 | S>R | No |
ClinGen gnomAD |
|
|
rs774919109 CA354428393 |
109 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA354427671 rs1191615052 |
112 | F>L | No |
ClinGen gnomAD |
|
|
CA2600650 rs759148419 |
112 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2600649 rs776322483 |
114 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2600648 rs770438055 |
115 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1185851086 CA354427605 |
118 | P>L | No |
ClinGen gnomAD |
|
|
CA354427600 rs1459695260 |
119 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA82541750 rs1051462122 |
120 | A>T | No |
ClinGen TOPMed |
|
|
rs532321871 CA2600647 |
121 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532321871 CA2600646 |
121 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354427561 rs1249150101 |
123 | P>A | No |
ClinGen gnomAD |
|
|
rs1241793911 CA354427531 |
125 | A>D | No |
ClinGen gnomAD |
|
|
rs780355938 CA2600640 |
130 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1377161598 CA354427487 |
130 | I>V | No |
ClinGen gnomAD |
|
|
CA354427458 rs1191765386 |
132 | E>G | No |
ClinGen TOPMed |
|
|
CA354427433 rs1305928843 |
135 | Y>H | No |
ClinGen gnomAD |
|
|
rs1398666272 CA354427414 |
136 | T>S | No |
ClinGen gnomAD |
|
|
rs549601911 CA2600637 |
137 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2600636 rs757831519 |
137 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141345041 CA82541668 |
141 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146983075 CA2600634 |
144 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372892820 CA2600632 |
145 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2600630 rs760344085 |
148 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1420140345 CA354427221 |
152 | Q>H | No |
ClinGen gnomAD |
|
|
CA2600627 rs762662133 COSM3846138 |
155 | V>E | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762662133 CA2600626 |
155 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758271882 CA82541570 |
155 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2600624 rs768440696 |
156 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600625 rs774368360 |
156 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779942540 CA2600622 |
159 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987956984 CA82541481 |
159 | N>T | No |
ClinGen TOPMed |
|
|
CA2600621 rs756388812 |
160 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA82541473 rs370522421 |
160 | H>Y | No |
ClinGen Ensembl |
|
|
rs1391559209 CA354427109 |
162 | F>L | No |
ClinGen gnomAD |
|
|
CA354427117 rs1390948297 |
162 | F>V | No |
ClinGen gnomAD |
|
|
CA354427086 rs1165943838 |
164 | S>F | No |
ClinGen gnomAD |
|
|
CA354427068 rs1384950472 |
166 | Y>C | No |
ClinGen gnomAD |
|
|
rs781580194 CA2600619 |
167 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2600618 rs757592263 |
168 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354427048 rs757592263 |
168 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256988129 CA354427034 |
169 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1212761834 CA354427037 |
169 | K>R | No |
ClinGen TOPMed |
|
|
rs1361772612 CA354427029 |
170 | T>A | No |
ClinGen gnomAD |
|
|
CA354427023 rs1559756589 |
170 | T>I | No |
ClinGen Ensembl |
|
|
CA354427015 rs1451623554 |
171 | Q>P | No |
ClinGen gnomAD |
|
|
CA2600614 rs753399733 |
173 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368476540 CA2600615 |
173 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773656479 CA82541413 |
173 | M>V | No |
ClinGen TOPMed |
|
|
CA2600612 rs376709384 |
174 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600613 rs376709384 |
174 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371612229 CA2600611 |
174 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 174 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767231053 CA2600610 |
175 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA82541393 rs1022912364 |
176 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354426949 rs1175948781 |
177 | L>P | No |
ClinGen TOPMed |
|
|
CA354426930 rs1576797169 |
179 | S>F | No |
ClinGen Ensembl |
|
|
rs144201770 CA2600608 |
180 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768654993 CA2600607 |
182 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600606 rs762788388 |
184 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA11557699 rs1403618431 |
185 | Y>C | No |
ClinGen gnomAD |
|
|
rs769838168 CA2600604 |
187 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA354426827 rs762392920 |
190 | N>D | No |
ClinGen gnomAD |
|
|
rs762392920 CA82541335 |
190 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2600602 rs781410585 |
191 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA82541295 rs867881809 |
192 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs150901401 CA2600598 |
193 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600596 rs199634162 |
193 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600597 rs199634162 |
193 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150901401 CA2600599 |
193 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444997626 CA354426784 |
194 | S>F | No |
ClinGen gnomAD |
|
|
rs755709173 CA2600595 |
194 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA354426765 rs1576797128 |
196 | D>A | No |
ClinGen Ensembl |
|
|
rs749913076 CA2600594 |
197 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA354426737 rs1344093936 |
199 | D>G | No |
ClinGen TOPMed |
|
|
rs201491933 CA82541220 |
202 | P>L | No |
ClinGen 1000Genomes |
|
|
rs1200091190 CA354426707 |
202 | P>T | No |
ClinGen TOPMed |
|
|
rs115466774 CA2600593 |
203 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2600592 rs549222889 |
205 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA354426670 rs549222889 |
205 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA354426651 rs1439575049 |
207 | P>S | No |
ClinGen TOPMed |
|
|
rs1296488437 CA354426277 |
214 | F>S | No |
ClinGen TOPMed |
|
|
rs757004043 CA2600573 |
216 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600574 rs757004043 |
216 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600572 rs751145417 |
217 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408112955 CA354426250 |
218 | Y>* | No |
ClinGen gnomAD |
|
|
CA2600570 rs762675522 |
218 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2600571 rs764002311 |
218 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs752445372 CA2600569 |
219 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241046918 CA354426236 |
220 | N>K | No |
ClinGen gnomAD |
|
|
rs765162052 CA2600568 |
220 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2600567 rs759408661 |
221 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA354426196 rs1233491617 |
226 | T>N | No |
ClinGen gnomAD |
|
|
CA354426187 rs1306255470 |
228 | T>A | No |
ClinGen gnomAD |
|
|
CA2600565 rs190764467 |
228 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354426185 rs190764467 |
228 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354426188 rs1306255470 |
228 | T>P | No |
ClinGen gnomAD |
|
|
CA354426159 rs1361983839 |
232 | R>* | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1313400925 CA354426158 |
232 | R>Q | No |
ClinGen gnomAD |
|
|
CA2600563 rs773283912 |
234 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs897466841 CA82535874 |
236 | V>I | No |
ClinGen gnomAD |
|
|
rs897466841 CA354426135 |
236 | V>L | No |
ClinGen gnomAD |
|
|
CA2600562 rs138936459 |
238 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1439470581 CA354426105 |
240 | G>V | No |
ClinGen gnomAD |
|
|
rs1303618678 CA354426101 |
241 | N>D | No |
ClinGen gnomAD |
|
|
rs1202935039 CA354426090 |
242 | I>S | No |
ClinGen gnomAD |
|
|
CA82535848 rs1050262456 |
243 | A>P | No |
ClinGen Ensembl |
|
|
rs774800395 CA2600560 |
244 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354426082 rs1383102248 |
244 | V>M | No |
ClinGen gnomAD |
|
|
CA354426066 rs1409062385 |
246 | E>G | No |
ClinGen gnomAD |
|
|
CA354426061 rs1281923715 |
247 | N>H | No |
ClinGen TOPMed |
|
|
rs376429671 CA2600558 |
251 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600556 rs756704573 |
253 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA2600557 rs148220683 |
253 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1490996966 CA354426004 |
255 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2600555 rs746483452 |
256 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317128850 CA354425974 |
260 | P>S | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354425954 COSM727588 rs1308628417 |
263 | R>C | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2600553 rs185997997 |
263 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2600552 rs757998521 |
264 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435830756 CA354425924 |
267 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 268 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354425906 rs1312837786 |
269 | Q>H | No |
ClinGen TOPMed |
|
|
CA354425903 rs1357967532 |
270 | P>S | No |
ClinGen TOPMed |
|
|
CA2600551 rs752498769 |
271 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA354425883 rs1444781439 |
273 | G>R | No |
ClinGen TOPMed |
|
|
rs370420726 CA2600550 |
275 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354425863 rs1454068838 |
276 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753743515 CA2600548 |
276 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2600546 rs760701141 |
278 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373405207 CA2600545 |
279 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600524 rs566070827 |
282 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs267599598 CA82534039 |
284 | L>F | No |
ClinGen Ensembl |
|
|
rs764366574 CA2600523 |
285 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA354425782 rs1263314391 |
287 | A>V | No |
ClinGen gnomAD |
|
|
rs1350338811 CA354425759 |
291 | V>I | No |
ClinGen TOPMed |
|
|
rs770212823 CA2600520 |
294 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82534029 rs1012496193 |
294 | R>W | No |
ClinGen TOPMed |
|
|
rs1228032632 CA354425714 |
297 | I>T | No |
ClinGen gnomAD |
|
|
rs1261986233 CA354425717 |
297 | I>V | No |
ClinGen gnomAD |
|
|
CA354425706 rs1325527286 |
298 | G>V | No |
ClinGen gnomAD |
|
|
CA354425705 rs1309225437 |
299 | N>H | No |
ClinGen gnomAD |
|
|
CA2600519 rs369220843 |
299 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600518 rs772662607 |
302 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1219057285 CA354425680 |
303 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 308 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2600515 rs778558650 |
312 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1035360109 CA82533960 |
314 | M>I | No |
ClinGen Ensembl |
|
|
rs768230951 CA2600514 |
317 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749051807 CA2600513 |
319 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354425569 rs1168968330 |
319 | R>H | No |
ClinGen gnomAD |
|
|
rs779886802 CA2600512 |
321 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918081424 CA82533946 |
322 | L>R | No |
ClinGen TOPMed |
|
|
rs756075171 CA2600511 |
322 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs750346666 CA2600510 |
323 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1642082 CA2600508 rs751653612 CA2600507 |
325 | G>R | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354425530 rs1195939760 |
326 | W>G | No |
ClinGen gnomAD |
|
|
CA354425507 rs1171957453 |
329 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs763205804 CA2600505 |
330 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs957158943 CA82533912 |
332 | V>A | No |
ClinGen TOPMed |
|
|
rs1359838705 COSM1037991 CA354425487 |
332 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM149464 CA2600503 rs765627715 |
336 | L>F | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2600502 rs759999108 |
336 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs777171863 CA2600501 |
337 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1333589849 CA354425448 |
338 | S>N | No |
ClinGen gnomAD |
|
|
CA354425439 rs1391977268 |
339 | Y>C | No |
ClinGen gnomAD |
|
|
CA82533842 rs759202343 |
343 | Y>C | No |
ClinGen Ensembl |
|
|
CA354425401 rs1194919279 |
344 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 346 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354425369 rs1389242869 |
347 | D>V | No |
ClinGen TOPMed |
|
|
rs757237896 CA82530534 |
348 | Q>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 350 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2600481 rs761158423 |
352 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600480 rs773918817 |
353 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1158748544 CA354425332 |
353 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs553124011 CA2600479 |
356 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1396394781 CA354425269 |
361 | D>E | No |
ClinGen TOPMed |
|
|
CA2600478 rs762564027 |
362 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1271040859 CA354425255 |
363 | Q>L | No |
ClinGen gnomAD |
|
|
CA354425250 rs1220162349 |
364 | V>E | No |
ClinGen gnomAD |
|
|
CA2600476 rs775232771 |
364 | V>M | No |
ClinGen ExAC TOPMed |
|
|
rs1450779231 CA354425235 |
366 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs538574016 CA82530485 |
366 | D>E | No |
ClinGen gnomAD |
|
|
rs1450779231 CA354425237 |
366 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2600475 rs769295051 |
367 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs776506560 CA2600473 |
369 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs776506560 CA2600474 |
369 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs746935098 CA2600471 |
373 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2600470 rs778036947 |
374 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA354425168 rs1271605084 |
378 | A>S | No |
ClinGen gnomAD |
|
|
CA82529791 rs748264239 |
380 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354425134 rs1420210127 |
381 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1413835598 CA354425136 |
381 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA82529760 rs867206557 |
383 | I>V | No |
ClinGen Ensembl |
|
|
CA354425115 rs1169591268 |
384 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2600447 rs749479360 |
386 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82529743 rs749479360 |
386 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768988335 CA2600448 |
386 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2600445 rs756491070 |
387 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208194993 CA354425087 |
388 | E>A | No |
ClinGen gnomAD |
|
|
CA2600444 rs149030563 |
391 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs41266495 CA2600443 |
391 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354425055 rs1216857553 |
393 | P>S | No |
ClinGen gnomAD |
|
|
rs1340415954 CA354425047 |
394 | D>A | No |
ClinGen gnomAD |
|
|
rs1560020846 CA354425042 |
395 | E>K | No |
ClinGen Ensembl |
|
|
CA354425030 rs1246213012 |
397 | H>N | No |
ClinGen gnomAD |
|
|
rs757644183 CA2600442 |
398 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1394881492 CA354424986 |
403 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 404 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354424979 rs1330765882 |
404 | F>S | No |
ClinGen gnomAD |
|
|
rs759305274 CA2600439 |
406 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370929298 CA2600437 |
406 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370929298 CA2600438 |
406 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600436 rs760579180 |
407 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354424955 rs1445465553 |
408 | V>E | No |
ClinGen gnomAD |
|
|
CA354424953 rs1387383761 |
409 | I>V | No |
ClinGen gnomAD |
|
|
rs772061094 CA2600434 |
410 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2600433 rs761651988 |
411 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354424940 rs761651988 |
411 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751153290 CA354424942 |
411 | A>P | No |
ClinGen TOPMed |
|
|
rs751153290 CA82529668 |
411 | A>T | No |
ClinGen TOPMed |
|
|
rs1231883019 CA354424934 |
412 | Y>C | No |
ClinGen TOPMed |
|
|
rs1576792335 CA354424929 |
413 | K>E | No |
ClinGen Ensembl |
|
|
CA354424900 rs1482381551 |
417 | V>L | No |
ClinGen gnomAD |
|
|
rs962830158 CA82529629 |
419 | Q>E | No |
ClinGen Ensembl |
|
|
rs1017412178 CA82529622 |
419 | Q>R | No |
ClinGen Ensembl |
|
|
CA354424880 rs1274359910 |
420 | H>D | No |
ClinGen gnomAD |
|
|
CA354424863 rs1362056373 |
422 | Q>R | No |
ClinGen gnomAD |
|
|
CA354424858 rs1227416065 |
423 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA354424856 rs1227416065 |
423 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2600430 rs749315908 |
424 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161665586 CA354424826 |
426 | V>I | No |
ClinGen gnomAD |
|
|
CA354424813 rs1455647705 |
427 | H>Q | No |
ClinGen gnomAD |
|
|
CA354424803 COSM1659479 rs1177720373 |
429 | T>A | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2600410 rs770055133 |
429 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs910875883 CA82529370 |
431 | N>K | No |
ClinGen TOPMed |
|
|
rs768893500 CA354424775 CA82529366 |
433 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2600407 rs575084947 |
439 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354424734 rs1204967052 |
439 | P>S | No |
ClinGen TOPMed |
|
|
CA82529357 rs747182747 |
441 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1225233244 CA354424722 |
442 | V>L | No |
ClinGen gnomAD |
|
|
rs201493798 CA2600405 |
443 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758909297 CA2600404 |
444 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs547372193 CA82529333 |
444 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2600402 rs779698096 |
447 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2600399 TCGA novel rs377625300 |
450 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA354424654 rs1468025896 |
452 | T>I | No |
ClinGen gnomAD |
|
|
rs1126829 CA2600396 |
453 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1126829 CA2600397 |
453 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2600395 COSM72486 rs756937909 |
454 | I>T | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA354424641 rs1392454767 |
455 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA354424640 rs1392454767 |
455 | I>T | No |
ClinGen TOPMed gnomAD |
|
| rs1186229975 | 455 | I>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2600394 rs775610495 |
456 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2600391 rs201296544 |
458 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200124017 CA2600392 |
458 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs747341091 CA2600389 |
462 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs773568912 CA2600388 |
464 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1016814885 CA82529236 |
465 | K>Q | No |
ClinGen TOPMed |
|
|
RCV000885417 CA2600387 rs146757242 |
465 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1249460383 CA354424177 |
468 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 468 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181375835 CA354424172 |
468 | A>V | No |
ClinGen gnomAD |
|
|
CA354424170 rs1291797054 |
469 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 471 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2600359 rs758215760 |
476 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778828673 CA2600356 |
481 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753924591 CA2600354 |
484 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332018489 CA354423959 |
485 | L>M | No |
ClinGen gnomAD |
|
|
CA354423932 rs1325992737 |
487 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 489 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766475655 CA354423892 |
490 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA2600353 rs766475655 |
490 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1389640103 CA354423876 |
491 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354423843 rs1576791034 |
494 | R>C | No |
ClinGen Ensembl |
|
|
rs750695770 CA2600351 |
494 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369349961 CA2600350 |
495 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354423785 rs1158271671 |
497 | D>H | No |
ClinGen gnomAD |
|
|
rs774796099 CA2600348 |
498 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769098992 CA2600347 |
500 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600346 rs142889882 |
501 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770456695 CA2600344 |
504 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs777437240 CA2600342 |
506 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354423626 rs1231449821 |
507 | R>Q | No |
ClinGen gnomAD |
|
|
rs771649293 CA2600341 |
507 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2600340 rs532769664 |
508 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2600339 rs778668806 |
510 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs754938131 CA2600338 |
511 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754938131 CA354423566 |
511 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600337 rs753779504 |
513 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs374967774 CA2600335 |
515 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600336 rs148503041 |
515 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs11550213 CA82525879 |
517 | K>N | No |
ClinGen Ensembl |
|
|
rs200859227 CA2600334 |
517 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2600333 rs767863573 |
518 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600332 rs762110508 |
521 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA354423409 rs1402202526 |
523 | H>R | No |
ClinGen TOPMed |
|
|
rs764483764 CA2600330 |
524 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2600328 rs201108570 |
525 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600329 rs201108570 |
525 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2600326 rs760185472 |
526 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600327 rs765626173 |
526 | L>S | No |
ClinGen ExAC |
|
|
CA354423377 rs1208253275 |
527 | T>S | No |
ClinGen gnomAD |
|
|
CA2600324 rs771771865 |
530 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1560019598 CA354423339 |
533 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 535 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298867468 CA354423320 |
536 | R>T | No |
ClinGen gnomAD |
|
|
rs1353978304 CA354423304 |
538 | K>N | No |
ClinGen TOPMed |
|
|
rs1230127021 CA354423291 |
540 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2600323 rs747796049 |
541 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs774054649 CA354423272 |
542 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2600322 rs774054649 |
542 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs3182181 CA2600321 |
543 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2600320 rs748994971 |
544 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA354423241 rs1360417514 |
544 | L>V | No |
ClinGen gnomAD |
|
|
CA354423207 rs1370903232 |
547 | R>K | No |
ClinGen gnomAD |
|
|
rs552090023 CA2600295 |
548 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747024275 CA2600294 |
549 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354422856 rs1287117362 |
551 | M>V | No |
ClinGen gnomAD |
|
|
rs913169616 CA354422805 |
558 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs913169616 CA82524187 |
558 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765517331 CA2600290 |
565 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354422755 rs1437455213 |
566 | A>T | No |
ClinGen gnomAD |
|
|
CA2600288 COSM1418774 rs754321104 |
566 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750975502 CA2600286 |
570 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763863363 CA2600284 |
571 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs762506765 CA2600283 |
571 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1051789213 CA82524121 |
575 | G>S | No |
ClinGen TOPMed |
|
|
CA2600281 rs769684829 |
577 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 578 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000831554 CA82524092 |
581 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs770929459 CA2600278 |
583 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs776743768 CA2600279 |
583 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2600277 rs747128020 |
587 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2600276 rs777703913 |
592 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA82524061 rs538846683 |
593 | R>C | No |
ClinGen gnomAD |
|
|
COSM1670549 rs1291949937 CA354422577 |
593 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA354422549 rs1389428034 |
597 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA354422527 rs142951968 |
600 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779299093 CA2600273 |
601 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363669516 CA354422518 |
602 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2600272 rs755358786 |
602 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1363669516 CA354422517 |
602 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1386629202 CA354422509 |
603 | I>S | No |
ClinGen TOPMed |
|
|
rs1429135539 CA354422498 |
605 | D>A | No |
ClinGen gnomAD |
|
|
CA2600271 rs754134712 |
605 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1423535502 CA354422493 |
606 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780552430 CA2600270 |
606 | A>V | No |
ClinGen ExAC gnomAD |
No associated diseases with P04843
No regional properties for P04843
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P04843 | |||
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| oligosaccharyltransferase complex | A protein complex that is found in the endoplasmic reticulum membrane of eukaryotes and transfers lipid-linked oligosaccharide precursor to asparagine residues on nascent proteins. In yeast, the complex includes at least nine different subunits, whereas in mammalian cells at least three different forms of the complex have been detected. |
| rough endoplasmic reticulum | The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| protein modification process | The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). |
| protein N-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. |
| protein N-linked glycosylation via asparagine | The glycosylation of protein via the N4 atom of peptidyl-asparagine forming N4-glycosyl-L-asparagine; the most common form is N-acetylglucosaminyl asparagine; N-acetylgalactosaminyl asparagine and N4 glucosyl asparagine also occur. This modification typically occurs in extracellular peptides with an N-X-(ST) motif. Partial modification has been observed to occur with cysteine, rather than serine or threonine, in the third position; secondary structure features are important, and proline in the second or fourth positions inhibits modification. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q91YQ5 | Rpn1 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 | Mus musculus (Mouse) | PR |
| Q6PIX5 | Rhbdf1 | Inactive rhomboid protein 1 | Mus musculus (Mouse) | PR |
| Q9GMB0 | RPN1 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 | Sus scrofa (Pig) | PR |
| P07153 | Rpn1 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 | Rattus norvegicus (Rat) | PR |
| Q0DJC5 | OST1A | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1A | Oryza sativa subsp japonica (Rice) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAPAAGLFL | LLLLGTWAPA | PGSASSEAPP | LINEDVKRTV | DLSSHLAKVT | AEVVLAHLGG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GSTSRATSFL | LALEPELEAR | LAHLGVQVKG | EDEEENNLEV | RETKIKGKSG | RFFTVKLPVA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LDPGAKISVI | VETVYTHVLH | PYPTQITQSE | KQFVVFEGNH | YFYSPYPTKT | QTMRVKLASR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NVESYTKLGN | PTRSEDLLDY | GPFRDVPAYS | QDTFKVHYEN | NSPFLTITSM | TRVIEVSHWG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NIAVEENVDL | KHTGAVLKGP | FSRYDYQRQP | DSGISSIRSF | KTILPAAAQD | VYYRDEIGNV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| STSHLLILDD | SVEMEIRPRF | PLFGGWKTHY | IVGYNLPSYE | YLYNLGDQYA | LKMRFVDHVF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DEQVIDSLTV | KIILPEGAKN | IEIDSPYEIS | RAPDELHYTY | LDTFGRPVIV | AYKKNLVEQH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IQDIVVHYTF | NKVLMLQEPL | LVVAAFYILF | FTVIIYVRLD | FSITKDPAAE | ARMKVACITE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QVLTLVNKRI | GLYRHFDETV | NRYKQSRDIS | TLNSGKKSLE | TEHKALTSEI | ALLQSRLKTE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GSDLCDRVSE | MQKLDAQVKE | LVLKSAVEAE | RLVAGKLKKD | TYIENEKLIS | GKRQELVTKI |
| DHILDAL |