Q5SY16
PR
Gene name |
NOL9 |
Protein name |
Polynucleotide 5'-hydroxyl-kinase NOL9 |
Names |
Nucleolar protein 9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79707 |
EC number |
2.7.1.78: 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 Q5SY16
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5SY16-F1 | Predicted | AlphaFoldDB |
564 variants for Q5SY16
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs200300475 CA338102569 |
2 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200300475 CA338102567 |
2 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200300475 CA562739 |
2 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772910194 CA338102552 |
3 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338102555 rs746683002 |
3 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs746683002 CA562738 |
3 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs367791650 CA562736 |
4 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253263267 CA338102545 |
4 | S>T | No |
ClinGen TOPMed |
|
|
rs1443202827 CA338102532 |
5 | G>E | No |
ClinGen TOPMed |
|
|
rs1319531621 CA338102516 |
7 | L>M | No |
ClinGen gnomAD |
|
|
CA562733 rs755573358 |
7 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319232426 CA338102507 |
8 | L>I | No |
ClinGen gnomAD |
|
|
CA338102503 rs1410870786 |
8 | L>Q | No |
ClinGen TOPMed |
|
|
CA338102506 rs1319232426 |
8 | L>V | No |
ClinGen gnomAD |
|
|
CA17195708 rs867153515 |
9 | K>E | No |
ClinGen Ensembl |
|
|
CA338102490 rs1426824828 |
9 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA562732 rs4908923 |
10 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA562730 rs750670976 |
10 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562729 rs750670976 |
10 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_054777 CA562731 rs4908923 |
10 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 11 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190306481 CA338102456 |
12 | S>F | No |
ClinGen gnomAD |
|
|
rs767795838 CA562728 |
12 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562726 rs752521019 |
13 | C>F | No |
ClinGen ExAC |
|
|
rs12742808 CA562727 |
13 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338102438 rs1208114247 |
14 | R>H | No |
ClinGen gnomAD |
|
|
CA338102441 rs1247361229 |
14 | R>S | No |
ClinGen gnomAD |
|
|
CA562725 rs764967054 |
15 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA338102415 rs1455849924 |
16 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA338102409 rs1254080578 |
16 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1254080578 CA338102407 |
16 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338102389 rs1298747253 |
19 | R>Q | No |
ClinGen gnomAD |
|
|
rs765943872 CA562722 |
19 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1252342895 CA338102386 |
20 | V>I | No |
ClinGen TOPMed |
|
|
rs374264473 CA562720 |
21 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771756756 CA562719 |
21 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA338102378 rs771756756 |
21 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs374264473 CA562721 |
21 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs566443145 CA562718 |
23 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338102361 rs1452711293 |
24 | R>P | No |
ClinGen gnomAD |
|
|
rs1236566300 CA338102362 |
24 | R>W | No |
ClinGen TOPMed |
|
|
CA338102354 rs1279454043 |
25 | P>L | No |
ClinGen TOPMed |
|
|
rs371329354 CA562717 |
25 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1007615825 CA17195644 |
26 | Q>H | No |
ClinGen TOPMed |
|
|
rs769118056 CA562716 |
26 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413508897 CA338102346 |
27 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA562715 rs749849850 |
28 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17195636 rs890555547 |
29 | L>F | No |
ClinGen Ensembl |
|
|
CA338102309 rs1557798136 |
31 | R>C | No |
ClinGen Ensembl |
|
|
CA562713 rs770143369 |
31 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1389480701 CA338102297 |
32 | R>Q | No |
ClinGen gnomAD |
|
|
rs1184201978 CA338102238 |
38 | G>W | No |
ClinGen gnomAD |
|
|
CA338102227 rs1473156679 |
39 | S>G | No |
ClinGen gnomAD |
|
|
CA338102155 rs1207733150 |
43 | C>* | No |
ClinGen gnomAD |
|
|
rs758893294 CA338102159 |
43 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220934933 CA338102166 |
43 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA338102157 rs1207733150 |
43 | C>W | No |
ClinGen gnomAD |
|
|
CA562710 rs758893294 |
43 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340555555 CA338102153 |
44 | G>S | No |
ClinGen gnomAD |
|
|
rs1274522409 CA338102130 |
45 | R>L | No |
ClinGen gnomAD |
|
|
CA338102134 rs1274522409 |
45 | R>Q | No |
ClinGen gnomAD |
|
|
CA338102136 rs1258477813 |
45 | R>W | No |
ClinGen TOPMed |
|
|
rs1281870733 CA338102121 |
46 | R>P | No |
ClinGen gnomAD |
|
|
CA338102125 rs1382002545 |
46 | R>W | No |
ClinGen gnomAD |
|
|
CA338102111 rs1350659203 |
47 | R>C | No |
ClinGen gnomAD |
|
|
rs751762254 CA338102107 |
47 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA562708 rs751762254 |
47 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA338102095 rs1164099679 |
48 | L>P | No |
ClinGen gnomAD |
|
|
CA338102100 rs1369779161 |
48 | L>V | No |
ClinGen gnomAD |
|
|
CA338102091 rs1411565818 |
49 | R>W | No |
ClinGen gnomAD |
|
|
CA338102080 rs1252794042 |
50 | W>* | No |
ClinGen gnomAD |
|
|
rs753829056 CA562705 |
50 | W>C | No |
ClinGen ExAC |
|
|
CA338102077 rs1252794042 |
50 | W>L | No |
ClinGen gnomAD |
|
|
CA562706 rs6693400 CA338102084 VAR_054778 |
50 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
rs760459048 CA562703 |
51 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766350709 CA562704 |
51 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA338102057 rs1323965243 |
52 | L>* | No |
ClinGen gnomAD |
|
|
CA338102052 rs1288352159 CA338102054 |
52 | L>F | No |
ClinGen gnomAD |
|
|
rs766888780 CA562701 |
52 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA338102042 rs1227242066 |
53 | L>Q | No |
ClinGen gnomAD |
|
|
rs1289813358 CA338102036 |
54 | Q>* | No |
ClinGen gnomAD |
|
|
rs1407660722 CA338102031 |
54 | Q>R | No |
ClinGen gnomAD |
|
|
rs1349528929 CA338102022 |
55 | A>P | No |
ClinGen gnomAD |
|
|
CA338102002 rs1164066931 |
56 | Q>H | No |
ClinGen gnomAD |
|
|
rs1438365576 CA338102015 |
56 | Q>K | No |
ClinGen gnomAD |
|
|
rs568946995 CA562700 |
56 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA562699 rs774114749 |
57 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1460965392 CA338101999 |
57 | A>T | No |
ClinGen gnomAD |
|
|
CA562697 VAR_054779 rs6693391 |
58 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA562696 rs775932885 |
58 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA562698 rs6693391 |
58 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781385475 CA562693 |
59 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747301161 CA562692 |
59 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA562694 rs781385475 |
59 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747301161 CA562691 |
59 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs779670349 CA562687 |
60 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA562688 rs753632073 |
60 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA338101944 rs767092862 |
61 | D>A | No |
ClinGen ExAC TOPMed |
|
|
rs1327976463 CA338101958 |
61 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA562684 rs767092862 |
61 | D>V | No |
ClinGen ExAC TOPMed |
|
|
rs1327976463 CA338101949 |
61 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA338101906 CA338101909 rs1292838447 |
62 | W>C | No |
ClinGen gnomAD |
|
|
rs1365286800 CA338101921 |
62 | W>L | No |
ClinGen gnomAD |
|
|
CA338101929 CA562683 rs756822542 |
62 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1435674942 CA338101902 |
63 | R>G | No |
ClinGen gnomAD |
|
|
CA562681 rs763845393 |
63 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763845393 CA562682 |
63 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322566688 CA338101886 |
63 | R>S | No |
ClinGen gnomAD |
|
|
CA338101876 rs762655639 |
64 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338101859 rs1177134736 |
64 | E>D | No |
ClinGen gnomAD |
|
|
rs1363431273 CA338101873 |
64 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA562680 rs762655639 |
64 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338101846 rs1423562602 |
65 | G>E | No |
ClinGen gnomAD |
|
|
rs775946468 CA562679 |
65 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA338101840 rs1423562602 |
65 | G>V | No |
ClinGen gnomAD |
|
|
CA338101824 rs1250460602 |
66 | A>D | No |
ClinGen gnomAD |
|
|
rs1450586492 CA338101831 |
66 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1450586492 CA338101836 |
66 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA338101827 rs1250460602 |
66 | A>V | No |
ClinGen gnomAD |
|
|
CA562678 rs765501088 |
67 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206207713 CA338101820 |
67 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338101787 rs760133182 |
68 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562677 rs760133182 |
68 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211848195 CA338101769 |
69 | V>G | No |
ClinGen gnomAD |
|
|
CA338101746 rs1300271055 |
71 | R>L | No |
ClinGen gnomAD |
|
|
rs531929657 CA562675 |
72 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338101716 rs1295398881 |
73 | A>V | No |
ClinGen gnomAD |
|
|
rs992612591 CA17195471 |
74 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 75 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17195463 rs1026156047 |
76 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs372387805 CA17195460 |
78 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372387805 CA562674 |
78 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338101646 rs1570095428 |
79 | N>D | No |
ClinGen Ensembl |
|
|
rs79736441 CA562672 |
80 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1295460646 CA338101604 |
81 | A>S | No |
ClinGen TOPMed |
|
|
rs1392564377 CA338101593 |
82 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA338101590 rs1359355593 |
82 | T>N | No |
ClinGen TOPMed |
|
|
rs1427375828 CA338101579 |
83 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1183119033 CA338101554 |
84 | S>I | No |
ClinGen gnomAD |
|
|
CA338101540 rs1557797693 |
85 | P>R | No |
ClinGen Ensembl |
|
|
rs755833637 CA562669 |
85 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562667 rs373802591 |
87 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338101513 rs1344116625 |
87 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | S>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338101498 rs1426580939 |
88 | S>N | No |
ClinGen TOPMed |
|
|
CA562666 rs757196069 |
89 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338101483 rs1227629985 |
89 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338101464 rs1251168891 |
90 | T>I | No |
ClinGen TOPMed |
|
|
rs1193122485 CA338101443 |
92 | A>V | No |
ClinGen TOPMed |
|
|
CA338101324 rs1214842523 |
101 | L>F | No |
ClinGen TOPMed |
|
|
rs936895079 CA17195419 |
104 | A>S | No |
ClinGen Ensembl |
|
|
CA17195412 rs905461693 |
109 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA562662 rs752264547 |
110 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560548786 CA562663 |
110 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338101158 rs1249300143 |
113 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17195382 rs369639676 |
116 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA338101122 rs1431821001 |
116 | V>M | No |
ClinGen TOPMed |
|
|
CA562660 rs759808579 |
118 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1267155514 CA338101099 |
119 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1270090466 CA338101058 |
122 | G>S | No |
ClinGen TOPMed |
|
|
CA338101002 rs1233758911 |
126 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1207775252 CA338100989 |
127 | L>Q | No |
ClinGen TOPMed |
|
|
CA17195376 rs909238471 |
129 | P>R | No |
ClinGen TOPMed |
|
|
rs1292867780 CA338100928 |
131 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs973253187 CA17195374 |
131 | E>D | No |
ClinGen gnomAD |
|
|
rs1312309128 CA338100923 |
131 | E>G | No |
ClinGen TOPMed |
|
|
rs1292867780 CA338100930 |
131 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 132 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766873067 CA562658 |
132 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA338100900 rs1306493230 |
132 | Q>H | No |
ClinGen gnomAD |
|
|
rs1303296204 CA338100904 |
132 | Q>R | No |
ClinGen TOPMed |
|
|
CA562644 rs549336620 |
134 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778446668 CA562643 |
135 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1248570872 CA338131215 |
137 | S>T | No |
ClinGen gnomAD |
|
|
CA562642 rs201576593 |
139 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754182931 COSM911638 CA562641 |
141 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1226197786 CA338131114 |
141 | R>H | No |
ClinGen gnomAD |
|
|
CA562640 rs200570941 |
142 | V>M | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA562639 rs761215853 |
144 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs375025359 CA562637 |
145 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322317279 CA338131025 |
146 | Y>C | No |
ClinGen TOPMed |
|
|
rs1232571484 CA338131027 |
146 | Y>H | No |
ClinGen gnomAD |
|
|
CA338130940 rs1299085082 |
149 | V>A | No |
ClinGen gnomAD |
|
|
CA338130918 rs1436634107 |
150 | Q>R | No |
ClinGen gnomAD |
|
|
rs1570087851 CA338130884 |
151 | V>G | No |
ClinGen Ensembl |
|
|
CA338130895 rs1314454371 |
151 | V>L | No |
ClinGen gnomAD |
|
|
rs1570087826 CA338130760 |
155 | T>P | No |
ClinGen Ensembl |
|
|
CA562634 rs768794216 |
156 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400796751 CA338130692 |
157 | S>C | No |
ClinGen TOPMed |
|
|
rs1400796751 CA338130693 |
157 | S>G | No |
ClinGen TOPMed |
|
|
rs371996463 CA562633 |
158 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA562632 rs776617418 |
159 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170522185 CA338130637 |
160 | Q>H | No |
ClinGen gnomAD |
|
|
CA562631 rs770819149 |
162 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562630 rs747014402 |
163 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA338130485 rs770372161 |
165 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562626 rs181396499 |
166 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA562627 rs368459260 |
166 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1281001928 CA338130434 |
167 | S>P | No |
ClinGen gnomAD |
|
|
rs754607842 CA562625 |
170 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA562624 TCGA novel rs370538456 |
171 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs780433793 CA562623 |
172 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs376966615 CA562622 |
173 | C>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA338130236 rs1260397958 |
175 | S>N | No |
ClinGen TOPMed |
|
|
CA338130096 rs1448123931 |
178 | A>E | No |
ClinGen gnomAD |
|
|
rs78433066 CA338130037 |
180 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762342211 CA562619 |
180 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs764211850 CA562617 |
181 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA17240894 rs150545613 |
181 | Y>N | No |
ClinGen ESP |
|
|
rs763126203 CA562616 |
183 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1007934607 CA17240858 |
186 | K>Q | No |
ClinGen Ensembl |
|
|
CA562614 rs770911195 |
187 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA17240839 rs758125306 |
187 | S>R | No |
ClinGen Ensembl |
|
|
rs1371493677 CA338129746 |
188 | K>Q | No |
ClinGen gnomAD |
|
|
CA562613 rs760562632 |
188 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA338129639 rs1186144000 |
190 | E>A | No |
ClinGen gnomAD |
|
|
rs773078478 CA562611 |
191 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA562608 rs370951394 |
196 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148133108 CA562609 |
196 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA562606 rs749006468 |
197 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA562604 rs139037332 |
198 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA562605 rs779665165 |
198 | L>W | No |
ClinGen ExAC |
|
|
CA562603 rs746234915 |
199 | L>F | No |
ClinGen ExAC |
|
|
rs1401852412 CA338129318 |
200 | K>N | No |
ClinGen TOPMed |
|
|
CA17240751 rs1029697355 |
202 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA562601 rs757754581 |
203 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17240743 rs1010238369 |
204 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 205 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752077071 CA562600 |
205 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs774913315 CA562586 |
206 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 208 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139109213 CA562585 |
209 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs745497641 COSM375350 CA562584 |
209 | R>H | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA562583 rs372627408 |
211 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA562582 rs757638711 |
212 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338128787 rs1161705623 |
212 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379051777 CA338128755 |
213 | Q>K | No |
ClinGen TOPMed |
|
|
rs1417670497 CA338128748 |
213 | Q>R | No |
ClinGen gnomAD |
|
|
CA562581 rs200987775 |
214 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA562580 rs201457228 |
216 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA562579 rs758913133 |
218 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 218 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752859009 CA562578 |
218 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338128612 rs1212516344 |
219 | C>R | No |
ClinGen gnomAD |
|
|
rs1570085154 CA338128568 |
220 | S>C | No |
ClinGen Ensembl |
|
|
CA338128587 rs1465003349 |
220 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs368062330 CA562576 |
221 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368062330 CA562575 |
221 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338128413 rs1254866277 |
226 | H>R | No |
ClinGen TOPMed |
|
|
rs1200574777 CA338128388 |
227 | L>Q | No |
ClinGen TOPMed |
|
|
rs767279417 CA562574 |
229 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1368687443 CA338128314 |
231 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs369948144 CA338128299 |
231 | T>I | No |
ClinGen ESP gnomAD |
|
|
CA17239741 rs369948144 |
231 | T>S | No |
ClinGen ESP gnomAD |
|
|
CA338128309 rs1368687443 |
231 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA562573 rs761653918 |
232 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs773958421 CA562572 |
234 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs936506494 CA17239724 |
237 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs571857364 CA562571 |
238 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs571857364 CA17239717 |
238 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144983671 CA562569 |
239 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA17239695 rs144983671 |
239 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338128042 rs1437044843 |
240 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 244 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338127907 rs1193615125 |
244 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776334788 CA562566 |
246 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562565 rs770435747 |
247 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA338125813 rs1235329559 |
252 | P>T | No |
ClinGen gnomAD |
|
|
CA562538 CA338125773 rs200124188 |
253 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769226254 CA562539 |
253 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs779956866 CA562537 |
254 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA338125694 rs1418307411 |
256 | P>T | No |
ClinGen TOPMed |
|
|
rs750580037 CA562535 |
257 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179213949 CA338125495 |
260 | A>V | No |
ClinGen TOPMed |
|
|
CA338125407 rs1375115606 |
263 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262649128 CA338125182 |
269 | E>G | No |
ClinGen TOPMed |
|
|
rs1326190611 CA338124939 |
274 | G>R | No |
ClinGen TOPMed |
|
|
CA338124943 rs1326190611 |
274 | G>S | No |
ClinGen TOPMed |
|
|
rs1306134536 CA338124830 |
278 | T>S | No |
ClinGen gnomAD |
|
|
rs1238727012 CA338124743 |
282 | L>F | No |
ClinGen TOPMed |
|
|
rs1238727012 CA338124744 |
282 | L>V | No |
ClinGen TOPMed |
|
|
rs1370459852 CA338124698 |
284 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA338124646 rs1392841934 |
285 | L>R | No |
ClinGen TOPMed |
|
|
CA562530 rs200904033 |
289 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs141437776 CA562529 |
290 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141437776 CA562528 |
290 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338124501 COSM3419401 rs1420716804 |
291 | V>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs765787814 CA562527 |
292 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157910063 CA338124480 |
292 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1018270912 CA17236300 |
293 | C>S | No |
ClinGen TOPMed |
|
|
CA562505 rs773918504 |
294 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1438050076 CA338124033 |
298 | G>D | No |
ClinGen gnomAD |
|
|
CA17236145 rs374186999 |
299 | C>Y | No |
ClinGen ESP TOPMed |
|
|
rs764530396 CA17236141 |
301 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs764530396 CA562503 |
301 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA338123829 rs1402039164 |
305 | C>F | No |
ClinGen gnomAD |
|
|
CA338123800 rs1382344011 |
306 | G>A | No |
ClinGen gnomAD |
|
|
CA17236104 rs929679418 |
314 | T>I | No |
ClinGen gnomAD |
|
|
CA338123575 rs1171726645 |
315 | F>L | No |
ClinGen gnomAD |
|
|
rs1453753434 CA338123527 |
316 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1252396622 CA338123388 |
320 | I>T | No |
ClinGen gnomAD |
|
|
rs1448025923 CA338123376 |
321 | N>D | No |
ClinGen TOPMed |
|
|
CA338123303 rs1448886964 |
323 | L>S | No |
ClinGen gnomAD |
|
|
CA338122127 rs1209198028 |
327 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA562478 rs368962316 |
328 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338122070 rs1274410287 |
329 | C>R | No |
ClinGen gnomAD |
|
|
rs1215804213 CA338122055 |
329 | C>S | No |
ClinGen gnomAD |
|
|
rs776744591 CA562476 |
330 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1003742905 CA17233832 |
330 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1310776688 CA338121998 |
332 | Y>H | No |
ClinGen gnomAD |
|
|
CA562474 rs773405800 |
334 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772276002 CA562472 |
340 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA338121782 rs1394374621 |
344 | P>L | No |
ClinGen gnomAD |
|
|
rs200934402 COSM3377261 CA562471 |
345 | P>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA562470 rs779857867 |
349 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1475120526 CA338121551 |
353 | I>T | No |
ClinGen gnomAD |
|
|
rs557485417 CA562469 |
354 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA562467 rs780890100 COSM1185290 |
356 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA562466 rs756814645 |
357 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA17233749 rs866104079 |
359 | G>* | No |
ClinGen Ensembl |
|
|
rs1221865822 CA338119233 |
361 | P>A | No |
ClinGen gnomAD |
|
|
rs1372523919 CA338119178 |
362 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199500432 CA338119162 |
363 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA562451 rs199500432 |
363 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866936249 CA17227301 |
364 | H>Y | No |
ClinGen Ensembl |
|
|
rs1484253558 CA338119098 |
365 | L>P | No |
ClinGen TOPMed |
|
|
CA17227291 rs747453318 |
367 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 370 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936710867 CA17227284 |
371 | M>I | No |
ClinGen TOPMed |
|
|
CA17227276 rs200738743 |
372 | V>L | No |
ClinGen 1000Genomes |
|
|
CA338118838 rs1330247177 |
375 | G>W | No |
ClinGen TOPMed |
|
|
rs1161726824 CA338118793 |
377 | P>S | No |
ClinGen gnomAD |
|
|
CA562447 rs745866994 |
381 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1455991717 CA338118693 |
382 | N>D | No |
ClinGen gnomAD |
|
|
CA338118686 rs1250543755 |
382 | N>S | No |
ClinGen gnomAD |
|
|
CA562446 rs781292835 |
383 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 384 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA562444 rs746550589 |
385 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs980728674 CA17227218 |
387 | I>T | No |
ClinGen TOPMed |
|
|
rs1570048430 CA338118480 |
389 | I>L | No |
ClinGen Ensembl |
|
|
CA338118465 rs1316177688 |
390 | V>M | No |
ClinGen gnomAD |
|
|
rs1161163487 CA338118403 |
392 | Y>F | No |
ClinGen TOPMed |
|
|
CA562442 rs758038851 |
392 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA562439 rs755317938 |
396 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1260228116 CA338118279 |
397 | Y>C | No |
ClinGen gnomAD |
|
|
rs1362902436 CA338118292 |
397 | Y>N | No |
ClinGen gnomAD |
|
|
rs1557784935 CA338118233 |
399 | R>I | No |
ClinGen Ensembl |
|
| rs750508634 | 400 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754140826 CA562438 |
401 | S>T | No |
ClinGen ExAC |
|
|
CA562436 rs766873084 |
402 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767610164 CA562433 |
405 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1425646820 CA338118086 |
407 | T>P | No |
ClinGen TOPMed |
|
|
rs1393814379 CA338118042 |
410 | W>* | No |
ClinGen gnomAD |
|
|
rs750909549 CA338117624 |
413 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168181129 CA338117607 |
414 | Q>P | No |
ClinGen gnomAD |
|
|
CA562410 rs139098299 |
420 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17029613 VAR_056955 CA562411 |
420 | I>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs374414608 CA338117498 |
422 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA562409 rs374414608 |
422 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776619358 CA562408 |
424 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774171115 CA338117455 |
424 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA17226771 rs774171115 |
424 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA338117363 rs1392434701 |
430 | H>N | No |
ClinGen gnomAD |
|
|
CA338117349 rs771842191 |
430 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562402 rs747695117 |
431 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557784580 CA338117322 |
432 | V>A | No |
ClinGen Ensembl |
|
|
rs1000147584 CA17226752 |
433 | Q>H | No |
ClinGen TOPMed |
|
|
rs140170030 CA562401 |
433 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA562400 rs201104106 |
435 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA562397 rs371155768 |
435 | R>H | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371155768 CA562398 |
435 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201104106 CA562399 |
435 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338117260 rs866554136 |
436 | S>P | No |
ClinGen gnomAD |
|
|
CA17226746 rs866554136 |
436 | S>T | No |
ClinGen gnomAD |
|
|
CA338117248 rs1459568606 |
437 | D>A | No |
ClinGen gnomAD |
|
|
rs1044269679 CA17226735 |
440 | K>E | No |
ClinGen TOPMed |
|
|
CA562396 rs746421098 |
440 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1216766709 CA338117198 |
441 | Y>C | No |
ClinGen TOPMed |
|
|
rs1557784540 CA338117205 |
441 | Y>H | No |
ClinGen Ensembl |
|
|
rs1376819438 CA338117143 |
445 | L>V | No |
ClinGen gnomAD |
|
|
rs781724724 CA562395 |
446 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA562394 rs368549420 |
447 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201335929 CA562392 |
447 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201335929 CA562393 |
447 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338117064 rs1274015035 |
449 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759288455 CA562390 |
452 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148078943 CA17226685 |
453 | M>L | No |
ClinGen ESP |
|
|
rs766331772 CA562389 |
455 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 460 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750122619 CA562387 |
461 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA338116827 rs1445376918 |
462 | T>I | No |
ClinGen gnomAD |
|
|
CA562386 rs767525936 |
464 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1371033018 CA338116764 |
464 | M>T | No |
ClinGen gnomAD |
|
|
CA562385 rs370960580 |
465 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA562384 rs146978611 |
467 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA562383 COSM215655 rs768124764 |
467 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1361961920 CA338116675 |
468 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA562381 COSM911609 rs147828763 |
468 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA338116679 rs1361961920 |
468 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA562378 rs781361913 |
472 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17226611 rs150920692 |
472 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150920692 CA562379 |
472 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202012274 CA562377 |
475 | A>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA562375 rs778063428 COSM464871 |
477 | A>D | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1033260054 CA17226587 |
479 | E>V | No |
ClinGen TOPMed |
|
|
CA562372 rs779204599 |
481 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA338116358 rs1232711359 |
483 | E>K | No |
ClinGen gnomAD |
|
|
CA562371 rs755119867 |
483 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs79455084 CA17226568 |
484 | E>G | No |
ClinGen Ensembl |
|
|
CA338116303 rs1318608946 |
486 | E>D | No |
ClinGen gnomAD |
|
|
rs1557784368 CA338116299 COSM179492 |
487 | S>G | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1383681723 CA338116294 |
487 | S>N | No |
ClinGen gnomAD |
|
|
CA338116273 rs1382447300 |
488 | P>L | No |
ClinGen gnomAD |
|
|
rs1435182423 CA338116248 |
490 | E>K | No |
ClinGen gnomAD |
|
|
CA338116193 rs1176969287 |
493 | G>R | No |
ClinGen gnomAD |
|
|
CA338116171 rs373916884 |
494 | H>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373916884 CA17226557 |
494 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs979497356 CA338116138 |
496 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA562367 rs549661723 |
497 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA562366 rs763652369 |
500 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA338116061 rs1570046495 |
501 | T>I | No |
ClinGen Ensembl |
|
|
rs969106311 CA17226552 |
504 | A>T | No |
ClinGen Ensembl |
|
|
rs762463377 CA562365 |
509 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA338115956 rs1284815167 |
509 | P>S | No |
ClinGen TOPMed |
|
|
CA17226542 rs955116564 |
512 | R>T | No |
ClinGen TOPMed |
|
|
rs1426636156 CA338115789 |
514 | S>P | No |
ClinGen TOPMed |
|
|
rs1168033271 CA338115773 |
515 | H>R | No |
ClinGen TOPMed |
|
|
rs772732529 CA562337 |
515 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774531682 CA562335 |
517 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 518 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 518 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 519 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338115687 rs1157176562 COSM911608 |
520 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs369550267 CA562333 |
522 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338115618 rs1570045629 |
524 | I>M | No |
ClinGen Ensembl |
|
|
rs781551204 CA17226284 |
525 | L>F | No |
ClinGen Ensembl |
|
|
CA562332 rs780154041 |
527 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA562330 rs376561943 |
528 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142590284 CA562329 |
530 | Q>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs758370979 CA562328 |
530 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA338115530 rs1170294707 |
531 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA562327 rs752571076 |
532 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA338115503 rs1553182503 |
533 | P>A | No |
ClinGen Ensembl |
|
|
CA562326 rs764858074 |
534 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA338115481 rs764858074 |
534 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1420419585 CA338115486 |
534 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1234024428 CA338115471 |
535 | M>T | No |
ClinGen gnomAD |
|
|
CA562323 rs766157053 |
540 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs777162538 CA17226242 |
540 | S>Y | No |
ClinGen Ensembl |
|
|
CA338115332 rs1213888598 |
543 | H>R | No |
ClinGen gnomAD |
|
|
rs760358547 CA562322 |
543 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1252957760 CA338115292 |
546 | T>A | No |
ClinGen TOPMed |
|
|
CA562320 rs767965677 |
547 | P>H | No |
ClinGen ExAC gnomAD |
|
|
COSM109999 rs145449783 CA17224496 |
551 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA17224495 rs949778547 |
552 | F>C | No |
ClinGen Ensembl |
|
|
CA562300 rs764541346 |
552 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746575456 CA562299 |
553 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213063273 CA338114111 |
554 | A>S | No |
ClinGen TOPMed |
|
|
rs1213063273 CA338114114 |
554 | A>T | No |
ClinGen TOPMed |
|
|
CA562295 rs139155763 |
556 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771072782 CA562294 |
556 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562293 rs747923018 |
558 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338114025 rs1418348075 |
558 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1422591610 CA338113883 |
565 | A>D | No |
ClinGen gnomAD |
|
|
rs200579753 CA338113886 |
565 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562291 rs200579753 |
565 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338113878 rs1422591610 |
565 | A>V | No |
ClinGen gnomAD |
|
|
CA562289 rs779779870 |
569 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA17224461 rs951948036 |
570 | L>P | No |
ClinGen Ensembl |
|
|
CA338113777 rs1243563930 |
571 | Y>H | No |
ClinGen gnomAD |
|
|
CA338113783 rs1243563930 |
571 | Y>N | No |
ClinGen gnomAD |
|
|
rs372889002 CA562288 |
572 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs989171352 CA17224454 |
572 | A>V | No |
ClinGen TOPMed |
|
|
CA17224451 rs974598605 |
573 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 573 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150821604 CA562286 |
575 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA338113632 rs1557782520 |
580 | L>F | No |
ClinGen Ensembl |
|
|
CA17224428 rs1008885340 |
581 | C>R | No |
ClinGen Ensembl |
|
|
CA338113541 rs1218803590 |
585 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA562282 rs763437394 |
586 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs745736047 CA562280 |
587 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs902591112 CA17224420 |
590 | Y>C | No |
ClinGen gnomAD |
|
|
rs1468049770 CA338113435 |
591 | T>R | No |
ClinGen gnomAD |
|
|
rs778868571 CA562278 |
592 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA338113410 rs1218047729 |
593 | G>R | No |
ClinGen TOPMed |
|
|
CA338113390 rs1483177821 |
594 | P>A | No |
ClinGen Ensembl |
|
|
rs139125761 CA562277 |
598 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191226155 CA338112924 |
600 | T>S | No |
ClinGen gnomAD |
|
|
rs147263684 CA562276 |
602 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1213010846 CA338112880 |
603 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA562274 rs768495701 |
605 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17224397 rs368290615 |
606 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA17224392 rs779729268 |
607 | G>S | No |
ClinGen Ensembl |
|
|
rs1320436558 CA338112164 |
611 | C>Y | No |
ClinGen gnomAD |
|
|
CA338112126 rs1378429486 |
614 | I>S | No |
ClinGen gnomAD |
|
|
rs1391440174 CA338112133 |
614 | I>V | No |
ClinGen gnomAD |
|
|
rs770460998 CA562251 |
616 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145973170 CA562252 |
616 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779445569 CA562249 |
619 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562250 rs746445609 |
619 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338111937 rs1464873944 |
624 | L>F | No |
ClinGen gnomAD |
|
|
rs1367799736 CA338111918 |
625 | T>S | No |
ClinGen gnomAD |
|
|
rs930244162 CA17222540 |
629 | P>L | No |
ClinGen TOPMed |
|
|
CA338111871 rs930244162 |
629 | P>R | No |
ClinGen TOPMed |
|
|
rs754343119 CA562244 |
630 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1176871393 CA338111815 |
633 | R>K | No |
ClinGen gnomAD |
|
|
CA562242 rs200482715 |
635 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA338111726 rs1265248783 |
639 | L>F | No |
ClinGen gnomAD |
|
|
rs757747589 CA17222456 |
640 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757747589 CA562239 |
640 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA17222447 rs754265882 |
642 | A>G | No |
ClinGen Ensembl |
|
|
rs1436806075 CA338111700 |
642 | A>T | No |
ClinGen TOPMed |
|
|
CA562238 rs775475304 |
643 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA562237 rs553913988 |
644 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759603807 CA338111656 |
645 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759603807 CA562236 |
645 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759603807 CA338111659 |
645 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338111647 rs1303022192 |
646 | P>A | No |
ClinGen gnomAD |
|
|
rs1384740824 COSM1686934 CA338111641 |
646 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA562235 rs776641506 |
648 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 653 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17221581 rs896109850 |
654 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA562212 rs771563405 |
654 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs761514288 CA338111347 |
656 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA338111341 rs1343845551 |
657 | E>G | No |
ClinGen gnomAD |
|
|
CA562210 rs774008134 |
657 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA562208 rs771800061 |
659 | T>* | No |
ClinGen ExAC |
|
|
CA562209 rs768234913 |
659 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1315777790 CA338111285 |
661 | P>T | No |
ClinGen gnomAD |
|
|
CA562206 rs749695303 |
663 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 663 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA562205 rs375782492 |
665 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1342256283 CA338111224 |
665 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA562201 rs757424584 |
671 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs992620706 CA17221496 |
672 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751622788 CA562200 |
675 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA17221478 rs537450957 COSM3790209 |
681 | R>T | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA338110899 rs1394649549 |
683 | P>S | No |
ClinGen gnomAD |
|
|
CA562197 rs200736091 |
684 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA562198 rs758640967 |
684 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1441383535 CA338110879 |
685 | E>A | No |
ClinGen gnomAD |
|
|
CA338110878 rs1441383535 |
685 | E>V | No |
ClinGen gnomAD |
|
|
rs1238270398 CA338110873 |
686 | A>T | No |
ClinGen gnomAD |
|
|
rs1443154825 COSM1217572 CA338110870 |
686 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1035061802 CA17221451 |
687 | H>P | No |
ClinGen TOPMed |
|
|
rs1200093424 CA338110850 |
688 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 690 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA562195 rs756140532 |
693 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756140532 CA562196 |
693 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368074969 CA17221426 |
693 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA338110774 rs1358346599 |
694 | R>K | No |
ClinGen gnomAD |
|
|
CA562194 rs140904774 |
695 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370150354 CA562193 |
697 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1382076060 CA338110712 |
698 | C>Y | No |
ClinGen gnomAD |
|
|
CA562192 rs761321941 |
699 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773814544 CA562191 |
699 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1446841535 CA338110666 |
701 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 701 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q5SY16
1 regional properties for Q5SY16
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop domain | 306 - 438 | IPR032319 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.78 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| intermediate filament cytoskeleton | Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| polynucleotide 5'-hydroxyl-kinase activity | Catalysis of the reaction: NTP + 5'-dephosphopolynucleotide = NDP + 5'-phosphopolynucleotide. The polynucleotide may be DNA or RNA. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Endonucleolytic cleavage within ITS2 between the 5.8S rRNA and the LSU-rRNA of an rRNA molecule originally produced as a tricistronic rRNA transcript that contained the Small SubUnit (SSU) rRNA, the 5.8S rRNA, and the Large SubUnit (LSU) rRNA, in that order, from 5' to 3' along the primary transcript. |
| maturation of 5.8S rRNA | Any process involved in the maturation of a precursor 5.8S ribosomal RNA (rRNA) molecule into a mature 5.8S rRNA molecule. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| RNA processing | Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADSGLLLKR | GSCRSTWLRV | RKARPQLILS | RRPRRRLGSL | RWCGRRRLRW | RLLQAQASGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DWREGARQVS | RAAAARRPNT | ATPSPIPSPT | PASEPESEPE | LESASSCHRP | LLIPPVRPVG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PGRALLLLPV | EQGFTFSGIC | RVTCLYGQVQ | VFGFTISQGQ | PAQDIFSVYT | HSCLSIHALH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YSQPEKSKKE | LKREARNLLK | SHLNLDDRRW | SMQNFSPQCS | IVLLEHLKTA | TVNFITSYPG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSYIFVQESP | TPQIKPEYLA | LRSVGIRREK | KRKGLQLTES | TLSALEELVN | VSCEEVDGCP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VILVCGSQDV | GKSTFNRYLI | NHLLNSLPCV | DYLECDLGQT | EFTPPGCISL | LNITEPVLGP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PFTHLRTPQK | MVYYGKPSCK | NNYENYIDIV | KYVFSAYKRE | SPLIVNTMGW | VSDQGLLLLI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DLIRLLSPSH | VVQFRSDHSK | YMPDLTPQYV | DDMDGLYTKS | KTKMRNRRFR | LAAFADALEF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ADEEKESPVE | FTGHKLIGVY | TDFAFRITPR | NRESHNKILR | DLSILSYLSQ | LQPPMPKPLS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PLHSLTPYQV | PFNAVALRIT | HSDVAPTHIL | YAVNASWVGL | CKIQDDVRGY | TNGPILLAQT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PICDCLGFGI | CRGIDMEKRL | YHILTPVPPE | ELRTVNCLLV | GAIAIPHCVL | KCQRGIEGTV |
| 670 | 680 | 690 | 700 | ||
| PYVTTDYNFK | LPGASEKIGA | REPEEAHKEK | PYRRPKFCRK | MK |