Q8N1G2
PR
Gene name |
CMTR1 (FTSJD2, KIAA0082, MTR1) |
Protein name |
Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 |
Names |
Cap methyltransferase 1, Cap1 2'O-ribose methyltransferase 1, MTr1, hMTr1, FtsJ methyltransferase domain-containing protein 2, Interferon-stimulated gene 95 kDa protein, ISG95 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23070 |
EC number |
2.1.1.57: Methyltransferases |
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
452 variants for Q8N1G2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs951541801 CA137525551 |
3 | R>K | No |
ClinGen TOPMed |
|
|
rs765801479 CA3785038 |
4 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 8 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758518040 CA3785040 |
9 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs139950902 CA3785041 |
10 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137525562 rs965405796 |
13 | I>L | No |
ClinGen TOPMed |
|
|
rs1335031148 CA363875890 |
13 | I>M | No |
ClinGen TOPMed |
|
|
CA363875931 rs1274185252 |
19 | R>G | No |
ClinGen gnomAD |
|
|
rs1341642515 CA363875946 |
21 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3785043 rs778959691 |
23 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1276474675 CA363875963 |
24 | A>T | No |
ClinGen gnomAD |
|
|
rs1027286039 CA137525567 |
24 | A>V | No |
ClinGen Ensembl |
|
|
rs753829878 CA3785045 |
25 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785046 rs769571650 |
26 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA137525571 rs35654909 |
27 | L>F | No |
ClinGen TOPMed |
|
|
CA3785047 rs780056458 |
28 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1012644285 CA137525577 |
29 | S>F | No |
ClinGen Ensembl |
|
|
rs1159615360 CA363875997 |
30 | T>A | No |
ClinGen TOPMed |
|
|
rs757196500 CA3785048 |
30 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785050 rs774067749 |
32 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363876018 rs1315186658 |
33 | D>G | No |
ClinGen gnomAD |
|
|
CA137525589 rs999022330 |
35 | P>L | No |
ClinGen gnomAD |
|
|
rs1237491818 CA363876036 |
36 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3785052 rs771887959 |
37 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs759965345 CA3785054 |
38 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3785055 rs765603272 |
39 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1211259368 CA363876076 |
42 | G>A | No |
ClinGen gnomAD |
|
|
CA363876075 rs1211259368 |
42 | G>E | No |
ClinGen gnomAD |
|
|
rs1445209002 CA363876083 |
43 | A>V | No |
ClinGen TOPMed |
|
|
CA137525604 rs1032376696 |
44 | K>E | No |
ClinGen Ensembl |
|
|
CA137517527 rs902451536 |
45 | A>E | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363868308 rs902451536 |
45 | A>V | No |
ClinGen TOPMed |
|
|
rs1266039711 CA363868313 |
46 | S>P | No |
ClinGen gnomAD |
|
|
rs763419702 CA3785074 |
47 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs199613780 CA3785075 |
47 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785076 rs774367747 |
48 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs375243314 CA137517532 |
48 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA363868353 rs1469561792 |
49 | S>R | No |
ClinGen TOPMed |
|
|
rs761896561 CA3785077 |
50 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137517543 rs909965790 |
51 | S>I | No |
ClinGen TOPMed |
|
|
CA3785078 rs767571558 |
52 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1156455025 CA363868394 |
53 | S>T | No |
ClinGen gnomAD |
|
|
CA3785079 rs750656115 |
54 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA363868410 rs1162962294 |
54 | D>V | No |
ClinGen gnomAD |
|
|
CA3785080 rs756351825 |
55 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149409097 CA3785082 |
58 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3785083 rs149409097 |
58 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779013677 CA3785084 |
60 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA363868579 rs1445684658 |
65 | D>H | No |
ClinGen gnomAD |
|
|
CA363868581 rs1445684658 |
65 | D>N | No |
ClinGen gnomAD |
|
|
CA363868577 rs1445684658 |
65 | D>Y | No |
ClinGen gnomAD |
|
|
CA137517609 rs1044225735 |
67 | F>L | No |
ClinGen Ensembl |
|
|
CA3785085 rs747601212 |
67 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA363868635 rs1468159601 |
68 | D>G | No |
ClinGen TOPMed |
|
|
CA3785086 rs757985081 |
69 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1334865217 CA363868742 |
71 | F>L | No |
ClinGen gnomAD |
|
|
CA363868775 rs1179240421 |
72 | K>R | No |
ClinGen TOPMed |
|
|
rs1401086707 CA363868853 |
75 | S>C | No |
ClinGen gnomAD |
|
|
rs777213811 CA3785087 |
76 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3785088 rs746659472 |
77 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785089 rs746659472 |
77 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775885006 CA3785090 |
78 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749677265 CA3785091 |
79 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1205778646 CA363868971 |
80 | T>A | No |
ClinGen TOPMed |
|
|
rs1056950284 CA137517657 |
80 | T>N | No |
ClinGen Ensembl |
|
|
CA3785093 rs769095802 |
81 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA363869003 rs1187082437 |
81 | S>T | No |
ClinGen gnomAD |
|
|
rs774845739 CA3785094 |
83 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA363869055 rs1168631606 |
83 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3785095 rs762377159 |
86 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA363869182 rs1375226856 |
89 | S>R | No |
ClinGen gnomAD |
|
|
rs375807909 CA3785098 |
90 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137517720 rs371638464 |
92 | Q>* | No |
ClinGen ESP |
|
|
CA363869266 rs1280637684 |
92 | Q>L | No |
ClinGen TOPMed |
|
|
CA3785115 rs760688180 |
97 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1562118250 CA363869430 |
110 | S>T | No |
ClinGen Ensembl |
|
|
CA363869448 rs1214688181 |
113 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765110402 CA3785119 |
113 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs993373727 CA137518959 |
115 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3785122 rs763960507 |
117 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs903862136 CA137518981 |
121 | S>G | No |
ClinGen Ensembl |
|
|
rs1410038025 CA363869501 |
121 | S>N | No |
ClinGen TOPMed |
|
|
rs146199761 CA3785125 |
131 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3785129 rs748538599 |
133 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785128 COSM218879 rs201399989 |
133 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1290131187 CA363869599 |
136 | D>E | No |
ClinGen gnomAD |
|
|
CA3785130 rs772586129 |
138 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1440816568 CA363869625 |
140 | N>I | No |
ClinGen gnomAD |
|
|
rs778160352 CA363869626 |
140 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007372135 CA137519049 |
141 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA137519055 rs996709022 |
142 | D>G | No |
ClinGen Ensembl |
|
|
rs747046392 CA3785133 |
144 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA3785134 rs141582725 |
144 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776909879 CA3785135 |
148 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778269576 CA3785151 |
150 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA137521350 rs989115662 |
153 | E>G | No |
ClinGen TOPMed |
|
|
rs1176765518 CA363870368 |
154 | Q>* | No |
ClinGen gnomAD |
|
|
rs923138361 CA137521358 |
155 | V>M | No |
ClinGen TOPMed |
|
|
CA137521382 rs752669520 |
168 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3785154 rs752669520 |
168 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 170 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363870620 rs1178556118 |
171 | M>V | No |
ClinGen gnomAD |
|
|
rs1460404631 CA363870655 COSM451377 |
173 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1396107411 CA363870692 |
175 | M>L | No |
ClinGen gnomAD |
|
|
CA3785156 rs770083227 |
175 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363871873 rs1454708065 |
182 | M>I | No |
ClinGen TOPMed |
|
|
CA363871891 rs1191853745 |
184 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1374080916 CA363871920 |
188 | T>A | No |
ClinGen gnomAD |
|
|
rs770416883 CA3785183 |
196 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1394826528 CA363871982 |
197 | H>Y | No |
ClinGen gnomAD |
|
|
CA363872011 rs1320399204 |
201 | Q>* | No |
ClinGen TOPMed |
|
|
CA3785184 rs776255140 |
201 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785185 rs776255140 |
201 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363872020 rs1358902240 |
202 | C>Y | No |
ClinGen gnomAD |
|
|
CA363872046 rs1429278231 |
204 | S>N | No |
ClinGen TOPMed |
|
|
CA3785204 rs775203679 |
205 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA363872058 rs1352155139 |
206 | F>I | No |
ClinGen gnomAD |
|
|
rs1581737024 CA363872065 |
207 | D>H | No |
ClinGen Ensembl |
|
|
rs146524499 CA3785205 |
208 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767969668 CA3785206 |
210 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA363872124 rs1196126635 |
215 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1196126635 CA363872123 |
215 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs750855301 CA3785207 |
215 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA363872128 COSM1444149 rs1248821263 |
216 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3785208 rs761221179 |
217 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753797840 CA3785210 |
218 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3785209 rs760920297 |
218 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755094423 CA3785211 |
219 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778930980 CA3785212 |
220 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1045092549 CA137522970 |
220 | R>W | No |
ClinGen TOPMed |
|
|
rs1333760101 CA363872147 |
221 | A>T | No |
ClinGen gnomAD |
|
|
CA363872156 rs1413888574 |
222 | N>S | No |
ClinGen TOPMed |
|
|
rs377023413 CA3785215 |
224 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3785214 rs377023413 |
224 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140898368 COSM1444150 CA137523013 |
228 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs530400513 CA137523017 |
229 | G>E | No |
ClinGen Ensembl |
|
|
CA363872213 rs1390628516 |
231 | F>L | No |
ClinGen gnomAD |
|
|
CA363872219 rs1421049842 |
231 | F>L | No |
ClinGen Ensembl |
|
|
CA363872265 rs1293970642 |
236 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 244 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3785232 rs764323434 |
249 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542833926 CA3785234 |
249 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs542833926 CA3785233 |
249 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780906984 CA3785235 |
251 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs897703121 CA137523117 |
254 | P>L | No |
ClinGen TOPMed |
|
|
rs867009589 CA137523111 |
254 | P>S | No |
ClinGen Ensembl |
|
|
rs368995317 CA137523129 |
255 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA3785237 rs756044573 |
255 | R>W | No |
ClinGen ExAC |
|
|
rs1427843069 CA363872573 |
258 | Y>* | No |
ClinGen gnomAD |
|
|
rs1259505554 CA363872571 |
258 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1193085662 CA363872563 |
258 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 260 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370228088 CA363872720 |
278 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746241679 CA3785262 |
294 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3785263 rs770230683 |
296 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 303 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137525610 rs1033185719 |
304 | G>D | No |
ClinGen Ensembl |
|
|
rs1175068754 CA363872908 |
305 | P>L | No |
ClinGen gnomAD |
|
|
CA363872909 rs1406832054 |
306 | N>D | No |
ClinGen gnomAD |
|
|
rs1188532499 CA363872914 |
306 | N>I | No |
ClinGen TOPMed |
|
|
rs763519786 CA3785265 |
309 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA137525629 rs917458024 |
310 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1327218334 CA363872993 |
317 | S>C | No |
ClinGen gnomAD |
|
|
rs200776117 CA137525632 |
321 | F>C | No |
ClinGen Ensembl |
|
|
CA363873047 rs1374342613 |
325 | Y>D | No |
ClinGen gnomAD |
|
| TCGA novel | 327 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777305793 CA3785279 |
327 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs949907974 CA363873093 |
330 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA137525929 rs949907974 |
330 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA363873136 rs1254994430 |
336 | I>T | No |
ClinGen gnomAD |
|
|
CA3785280 rs746177112 |
337 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA3785281 rs770140756 |
338 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs199815717 COSM1078674 CA3785282 |
338 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs199815717 CA3785283 |
338 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3785284 rs769179894 |
339 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs368591877 CA3785286 |
342 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772267740 CA363873173 |
342 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3785289 rs773298348 |
343 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs773298348 CA3785288 |
343 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs753730251 CA3785291 |
346 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372628932 CA3785290 |
346 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA137525970 rs764308181 |
352 | N>D | No |
ClinGen Ensembl |
|
|
rs935902565 CA137525972 |
353 | T>K | No |
ClinGen Ensembl |
|
|
rs377098871 CA3785293 |
355 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752195687 CA3785294 |
355 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310013168 CA363873255 |
356 | K>E | No |
ClinGen TOPMed |
|
|
CA363873258 rs1277673127 |
356 | K>R | No |
ClinGen gnomAD |
|
|
CA137525988 rs996591746 COSM3830389 |
357 | G>D | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1284827111 CA363873267 |
358 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 359 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363873298 rs1349394149 |
362 | M>T | No |
ClinGen TOPMed |
|
|
rs775284843 CA3785312 |
367 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs773946187 CA137526815 COSM174010 |
368 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA137526813 rs945510290 |
368 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 371 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363873366 rs1434171580 |
371 | G>R | No |
ClinGen gnomAD |
|
|
rs1362281293 CA363873423 |
378 | I>M | No |
ClinGen gnomAD |
|
|
CA3785314 rs763480457 |
379 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1159980214 CA363873438 |
381 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 387 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3785316 rs759199278 |
391 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3785320 rs201318299 |
396 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785319 rs755289644 |
396 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765490947 COSM1207642 CA3785338 |
401 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA363873609 rs1254281504 |
405 | T>A | No |
ClinGen gnomAD |
|
|
CA3785340 rs758786979 |
407 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA3785341 rs778441597 |
408 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785342 rs751624584 |
410 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3785343 rs757408510 |
410 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386687654 CA363873650 |
411 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 416 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 416 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 416 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770084774 CA3785346 |
417 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3785351 rs576689024 |
421 | Y>C | No |
ClinGen 1000Genomes ExAC |
|
|
CA3785349 rs768410267 |
421 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3785350 rs768410267 |
421 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1078676 CA3785352 rs771545316 |
426 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772745947 CA3785353 |
426 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363873748 rs1210519957 |
427 | V>I | No |
ClinGen gnomAD |
|
|
CA363873768 rs1256633725 |
430 | F>I | No |
ClinGen gnomAD |
|
|
rs1183480803 CA363873802 |
434 | T>I | No |
ClinGen gnomAD |
|
|
rs766080515 CA3785355 |
436 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752951174 CA3785356 |
436 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188951263 CA363873822 |
438 | A>S | No |
ClinGen gnomAD |
|
|
CA363873827 rs1449201476 |
439 | N>H | No |
ClinGen TOPMed |
|
|
rs373303101 CA3785379 |
446 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363873899 rs1449625849 |
447 | K>R | No |
ClinGen TOPMed |
|
|
rs1228878492 CA363873934 |
453 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1228878492 CA363873935 |
453 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3785380 rs573666497 |
454 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766423452 CA3785381 |
457 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1054675946 CA137527179 |
459 | Y>H | No |
ClinGen TOPMed |
|
|
rs767328135 CA137527181 |
461 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755231746 CA363873995 |
462 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785383 COSM281261 rs755231746 |
462 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA363874003 rs1175161371 |
463 | V>A | No |
ClinGen gnomAD |
|
|
CA363874019 rs1250397984 |
465 | I>M | No |
ClinGen gnomAD |
|
|
CA3785384 rs778636348 |
466 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3785386 rs147062806 |
468 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3785385 rs147062806 |
468 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363874041 rs1183638930 |
469 | Q>* | No |
ClinGen TOPMed |
|
|
rs770462745 CA3785389 |
471 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746989532 CA3785388 |
471 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137527198 rs1010040586 |
472 | N>T | No |
ClinGen TOPMed |
|
|
CA363874063 rs1352019797 |
473 | T>A | No |
ClinGen gnomAD |
|
|
CA3785390 rs556222451 |
473 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3785393 rs774798058 |
476 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA137527208 rs892124878 |
476 | D>N | No |
ClinGen gnomAD |
|
|
rs768061519 CA363874107 |
479 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323336970 CA363874112 |
480 | V>A | No |
ClinGen gnomAD |
|
|
rs773754901 CA3785396 |
480 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA137527227 rs1043439891 |
481 | V>A | No |
ClinGen gnomAD |
|
|
rs1043439891 CA363874117 |
481 | V>G | No |
ClinGen gnomAD |
|
|
CA363874122 rs1441033441 |
482 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363874129 rs1287359004 |
484 | E>K | No |
ClinGen TOPMed |
|
|
CA137527236 rs138354817 |
485 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA363874175 rs1370775762 |
490 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA363874212 rs1277023402 |
495 | Y>C | No |
ClinGen TOPMed |
|
|
rs1182999703 CA363874224 |
496 | M>I | No |
ClinGen gnomAD |
|
|
CA3785400 rs755146361 |
496 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1398004360 CA363874218 |
496 | M>V | No |
ClinGen TOPMed |
|
|
CA137527249 rs1007695969 |
498 | R>W | No |
ClinGen gnomAD |
|
|
CA3785402 rs765460741 |
500 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA3785401 rs765460741 |
500 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 500 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307516677 CA363874248 |
501 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3785423 rs752907346 |
509 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785425 COSM3715508 rs763918686 |
512 | A>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1272747707 COSM1634774 CA363874368 |
515 | H>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs757172116 CA3785427 |
516 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs780994839 CA3785428 |
516 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785429 rs374920562 |
518 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3785430 rs755670613 |
519 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748913626 CA3785432 |
521 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779759438 CA3785431 |
521 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785442 rs767859059 |
525 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3785443 rs764247057 |
526 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1452405395 CA363874455 |
527 | R>L | No |
ClinGen gnomAD |
|
|
CA363874463 rs1249645471 |
528 | Q>H | No |
ClinGen gnomAD |
|
|
rs761507223 CA3785445 |
530 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767403405 CA3785446 |
531 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs1330893752 COSM1078677 CA363874485 |
532 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs750364474 CA3785447 |
532 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363874496 rs1464163751 |
534 | E>K | No |
ClinGen TOPMed |
|
|
CA363874506 rs1581751402 |
535 | C>G | No |
ClinGen Ensembl |
|
|
rs202133832 CA3785448 |
537 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779667558 CA3785449 |
538 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768595935 CA3785477 |
544 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363874587 rs1295936278 |
545 | A>V | No |
ClinGen gnomAD |
|
|
rs774529394 CA3785478 |
546 | R>H | No |
ClinGen ExAC |
|
|
CA137537475 rs918392859 |
551 | S>F | No |
ClinGen TOPMed |
|
|
rs1206187827 CA363874625 |
552 | S>C | No |
ClinGen gnomAD |
|
|
rs199822671 CA3785482 |
553 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199822671 CA3785481 |
553 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766346208 CA3785483 |
554 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA363874640 rs1255391836 |
555 | K>* | No |
ClinGen gnomAD |
|
|
CA363874643 rs1430303772 |
555 | K>R | No |
ClinGen TOPMed |
|
|
CA137537491 rs376226800 |
556 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200087608 CA3785485 |
562 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201469465 CA137538176 |
565 | T>I | No |
ClinGen gnomAD |
|
|
CA363874738 rs1388279980 |
567 | I>T | No |
ClinGen gnomAD |
|
|
CA363874781 rs1332702680 |
573 | K>E | No |
ClinGen TOPMed |
|
|
rs751187582 CA3785511 |
573 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3785512 rs761489778 |
575 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 582 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3785513 COSM3715496 rs766609665 |
583 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3785515 rs755381712 |
587 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369880709 CA3785516 |
590 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758541553 CA3785518 |
594 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 597 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141593198 CA3785520 |
598 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363874946 rs1267368775 |
598 | S>N | No |
ClinGen gnomAD |
|
|
rs893032782 CA137538224 |
599 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1481134575 CA363874957 |
600 | Q>E | No |
ClinGen gnomAD |
|
|
CA363874966 rs1157534640 |
601 | K>Q | No |
ClinGen gnomAD |
|
|
rs1411902819 CA363874983 |
603 | L>H | No |
ClinGen gnomAD |
|
|
rs771309733 CA3785521 |
604 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs771375770 CA3785523 |
605 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 607 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472788824 CA566562935 |
609 | S>* | No |
ClinGen gnomAD |
|
|
CA363875029 rs1581753423 |
609 | S>P | No |
ClinGen Ensembl |
|
|
rs1182776475 CA363875035 |
610 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1387549607 CA363875040 |
610 | Q>H | No |
ClinGen gnomAD |
|
|
rs772905241 CA3785550 |
613 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581753447 CA363875064 |
614 | W>G | No |
ClinGen Ensembl |
|
|
CA363875078 rs1581753450 |
615 | D>E | No |
ClinGen Ensembl |
|
|
rs1390792463 CA363875084 |
616 | G>A | No |
ClinGen gnomAD |
|
|
rs370269634 CA3785552 |
617 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776029354 CA3785553 |
617 | R>H | Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA363875096 rs1447249573 |
618 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1357335870 CA363875094 |
618 | Q>L | No |
ClinGen gnomAD |
|
|
rs1474760118 CA363875103 |
620 | D>N | No |
ClinGen TOPMed |
|
|
CA3785554 rs142916270 |
621 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs965667343 CA137538847 |
621 | R>H | No |
ClinGen Ensembl |
|
|
CA363875132 rs764715941 |
624 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764715941 CA3785555 |
624 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376909103 CA3785557 |
627 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767553428 CA3785558 |
628 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA363875166 rs1215793786 |
629 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1581753532 CA363875175 |
630 | E>D | No |
ClinGen Ensembl |
|
|
rs1204927438 CA363875190 |
633 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1204927438 COSM1444157 CA363875191 |
633 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs750625736 CA3785559 |
633 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785560 rs756318844 |
634 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1463827997 CA363875206 |
636 | L>V | No |
ClinGen gnomAD |
|
|
CA3785563 rs754842721 |
638 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs778816388 CA3785564 |
644 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA363875305 rs1284706078 |
649 | G>A | No |
ClinGen gnomAD |
|
|
CA363875304 rs1284706078 |
649 | G>E | No |
ClinGen gnomAD |
|
|
CA137539275 rs937954872 |
652 | Q>R | No |
ClinGen TOPMed |
|
|
rs368202393 CA3785588 |
658 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363875374 rs1340360090 |
659 | H>R | No |
ClinGen TOPMed |
|
|
rs1300030023 CA363875381 |
660 | I>T | No |
ClinGen TOPMed |
|
|
rs769123783 CA3785589 |
660 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3785594 rs374003622 |
669 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471058135 CA363875442 |
670 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201118514 CA3785597 |
671 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752458854 CA3785599 |
672 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764978520 CA3785598 |
672 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs777576981 CA3785601 |
673 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751586820 CA3785602 |
674 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1243091322 CA363875495 |
678 | Q>E | No |
ClinGen gnomAD |
|
|
CA363875503 rs756816742 |
679 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA363875504 rs1360436719 |
679 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1361492696 CA363875519 |
680 | I>V | No |
ClinGen gnomAD |
|
|
rs749964200 CA3785624 |
681 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779565625 CA3785626 |
684 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA137539754 rs879239829 |
687 | V>A | No |
ClinGen Ensembl |
|
|
CA3785628 rs758668296 |
688 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 690 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1205300083 CA363875586 |
690 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA363875593 rs1264940723 |
691 | S>A | No |
ClinGen TOPMed |
|
|
rs747473394 CA3785630 |
691 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA363875606 rs1337706443 |
693 | P>A | No |
ClinGen gnomAD |
|
|
rs1263142161 CA363875622 |
695 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA363875620 rs1186759850 |
695 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363875626 rs1199270455 |
696 | P>S | No |
ClinGen gnomAD |
|
|
CA363875630 COSM261044 rs1471265719 |
697 | D>N | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA137539821 rs866865968 |
698 | M>V | No |
ClinGen TOPMed |
|
|
rs200566231 CA3785633 |
699 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363875658 rs1235667568 |
700 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3785656 rs774221157 |
706 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs773260261 CA3785659 |
709 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 714 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3785685 rs142246031 |
718 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3785686 rs752327193 |
719 | L>* | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs762638038 CA3785687 |
721 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA3785688 rs151209204 |
725 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3785689 rs151209204 |
725 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363876153 rs1323511761 |
725 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 727 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204681735 CA363876173 |
728 | S>T | No |
ClinGen gnomAD |
|
|
rs1380419408 CA363876182 |
729 | G>D | No |
ClinGen TOPMed |
|
|
CA137541190 rs890390153 |
730 | T>A | No |
ClinGen gnomAD |
|
|
CA363876226 rs1192766962 |
736 | T>S | No |
ClinGen gnomAD |
|
|
CA3785692 rs754356635 |
738 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1422010627 CA363876239 |
738 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA363876253 rs1469264255 |
740 | D>G | No |
ClinGen gnomAD |
|
|
rs1191188833 CA363876249 |
740 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1408097937 CA363876258 |
741 | R>Q | No |
ClinGen gnomAD |
|
|
CA3785693 rs368120050 |
741 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1581756896 CA363876294 |
746 | M>T | No |
ClinGen Ensembl |
|
|
CA363876290 rs1260762165 |
746 | M>V | No |
ClinGen TOPMed |
|
|
CA363876305 rs777651763 |
748 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3785697 rs777651763 |
748 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs746826936 CA3785698 |
749 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA363876317 rs1224726096 |
750 | I>V | No |
ClinGen gnomAD |
|
|
CA3785699 rs770701280 |
751 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137541220 rs368412155 |
755 | N>K | No |
ClinGen Ensembl |
|
|
rs748787971 CA3785725 |
762 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3785726 rs543979356 |
764 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 773 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363876521 rs1459020161 |
776 | T>A | No |
ClinGen TOPMed |
|
|
CA3785728 rs557479717 |
777 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1249762418 CA363876568 |
782 | D>E | No |
ClinGen gnomAD |
|
|
CA363876605 rs1195171738 |
788 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 791 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484888185 COSM451378 CA363876628 |
792 | H>Y | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA363876658 rs1479782540 |
794 | C>Y | No |
ClinGen gnomAD |
|
|
rs1176147010 CA363876665 |
795 | Y>H | No |
ClinGen gnomAD |
|
|
CA363876675 rs1455719293 |
796 | Y>C | No |
ClinGen gnomAD |
|
|
CA3785749 rs759976034 |
797 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3785750 rs770340791 |
798 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA363876717 rs1215481320 |
802 | E>D | No |
ClinGen TOPMed |
|
|
CA363876723 rs1382827748 |
803 | W>S | No |
ClinGen gnomAD |
|
|
CA3785752 rs377468427 |
805 | D>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776121006 CA3785751 |
805 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764197303 CA3785753 |
806 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3785754 rs370260333 |
808 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762041897 CA3785755 |
808 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA363876754 rs762041897 |
808 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258605430 CA363876791 |
813 | Q>H | No |
ClinGen gnomAD |
|
|
rs1205203664 CA363876834 |
819 | D>G | No |
ClinGen gnomAD |
|
|
rs1485367203 CA363876830 |
819 | D>N | No |
ClinGen gnomAD |
|
|
rs750698371 CA3785757 |
820 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1430377050 CA363876852 |
822 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA363876872 rs1328599708 |
825 | D>N | No |
ClinGen TOPMed |
|
|
rs1300097827 CA363876880 |
826 | V>I | No |
ClinGen gnomAD |
|
|
rs1402948029 CA363876896 |
828 | S>F | No |
ClinGen gnomAD |
|
|
rs377014990 CA3785761 |
828 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168921885 CA363876905 |
830 | I>V | No |
ClinGen TOPMed |
|
|
CA137542027 rs1041284985 |
833 | H>N | No |
ClinGen Ensembl |
|
|
CA3785763 rs142464184 |
834 | R>K | No |
ClinGen ESP ExAC gnomAD |
No associated diseases with Q8N1G2
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.57 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA (nucleoside-2'-O-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + m7G(5')pppR-RNA = S-adenosyl-L-homocysteine + m7G(5')pppRm-RNA. R may be guanosine or adenosine. |
| nucleic acid binding | Binding to a nucleic acid. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 7-methylguanosine mRNA capping | Addition of the 7-methylguanosine cap to the 5' end of a nascent messenger RNA transcript. |
| cap1 mRNA methylation | Methylation of the ribose of the first nucleotide of a 5'-capped mRNA. |
| mRNA methylation | The posttranscriptional addition of methyl groups to specific residues in an mRNA molecule. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A2VE39 | CMTR1 | Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 | Bos taurus (Bovine) | PR |
| D2HRF1 | CMTR1 | Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 | Ailuropoda melanoleuca (Giant panda) | PR |
| Q9DBC3 | Cmtr1 | Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 | Mus musculus (Mouse) | PR |
| Q5U2Z5 | Cmtr1 | Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q9NAA5 | Y53F4B.13 | Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 | Caenorhabditis elegans | PR |
| Q803R5 | cmtr1 | Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKRRTDPECT | APIKKQKKRV | AELALSLSST | SDDEPPSSVS | HGAKASTTSL | SGSDSETEGK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QHSSDSFDDA | FKADSLVEGT | SSRYSMYNSV | SQKLMAKMGF | REGEGLGKYS | QGRKDIVEAS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SQKGRRGLGL | TLRGFDQELN | VDWRDEPEPS | ACEQVSWFPE | CTTEIPDTQE | MSDWMVVGKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KMIIEDETEF | CGEELLHSVL | QCKSVFDVLD | GEEMRRARTR | ANPYEMIRGV | FFLNRAAMKM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ANMDFVFDRM | FTNPRDSYGK | PLVKDREAEL | LYFADVCAGP | GGFSEYVLWR | KKWHAKGFGM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TLKGPNDFKL | EDFYSASSEL | FEPYYGEGGI | DGDGDITRPE | NISAFRNFVL | DNTDRKGVHF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LMADGGFSVE | GQENLQEILS | KQLLLCQFLM | ALSIVRTGGH | FICKTFDLFT | PFSVGLVYLL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YCCFERVCLF | KPITSRPANS | ERYVVCKGLK | VGIDDVRDYL | FAVNIKLNQL | RNTDSDVNLV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VPLEVIKGDH | EFTDYMIRSN | ESHCSLQIKA | LAKIHAFVQD | TTLSEPRQAE | IRKECLRLWG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IPDQARVAPS | SSDPKSKFFE | LIQGTEIDIF | SYKPTLLTSK | TLEKIRPVFD | YRCMVSGSEQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KFLIGLGKSQ | IYTWDGRQSD | RWIKLDLKTE | LPRDTLLSVE | IVHELKGEGK | AQRKISAIHI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LDVLVLNGTD | VREQHFNQRI | QLAEKFVKAV | SKPSRPDMNP | IRVKEVYRLE | EMEKIFVRLE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MKIIKGSSGT | PKLSYTGRDD | RHFVPMGLYI | VRTVNEPWTM | GFSKSFKKKF | FYNKKTKDST |
| 790 | 800 | 810 | 820 | 830 | |
| FDLPADSIAP | FHICYYGRLF | WEWGDGIRVH | DSQKPQDQDK | LSKEDVLSFI | QMHRA |