Q7Z2T5
Gene name |
TRMT1L (C1orf25, TRM1L, MSTP070) |
Protein name |
TRMT1-like protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:81627 |
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
1 structures for Q7Z2T5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z2T5-F1 | Predicted | AlphaFoldDB |
491 variants for Q7Z2T5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1289503 rs201874064 |
2 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343882890 rs1172560092 |
2 | E>D | No |
ClinGen gnomAD |
|
|
rs752695460 CA1289504 |
2 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343882903 rs201874064 |
2 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1289502 rs368113240 |
3 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343882867 rs1345917491 |
3 | N>T | No |
ClinGen TOPMed |
|
|
rs753656594 CA1289501 |
5 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1289499 rs761966868 |
8 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774596700 CA1289498 |
9 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289497 rs764089275 |
11 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762959096 CA1289496 |
12 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs776031606 CA1289495 |
12 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1342475542 CA343882451 |
13 | E>Q | No |
ClinGen gnomAD |
|
|
rs770277883 CA1289494 |
14 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA343882368 rs1339407087 |
16 | E>K | No |
ClinGen gnomAD |
|
|
rs998154164 CA33389748 |
17 | V>G | No |
ClinGen TOPMed |
|
|
CA1289492 rs746269428 |
17 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs902097627 CA33389745 |
18 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs776836061 CA1289490 |
19 | V>A | No |
ClinGen ExAC |
|
|
rs1009436376 CA33389739 |
20 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs189413479 CA1289489 |
21 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1289487 rs777417475 |
23 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758040414 CA1289486 |
24 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892414003 CA343882043 |
25 | P>Q | No |
ClinGen gnomAD |
|
|
CA33389726 rs892414003 |
25 | P>R | No |
ClinGen gnomAD |
|
|
CA1289485 rs747658286 |
27 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343881932 rs747658286 |
27 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343881955 rs1444067739 |
27 | P>S | No |
ClinGen gnomAD |
|
|
CA1289484 rs779034576 |
28 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA343881890 rs904062733 |
29 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs754946753 CA1289483 |
29 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA33389708 rs904062733 |
29 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA1289482 rs753782690 |
30 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1246269976 CA343881783 |
32 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1305333366 CA343881756 |
32 | A>V | No |
ClinGen TOPMed |
|
|
rs755875052 CA1289480 |
33 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1289479 rs751738994 |
34 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1287053090 CA343881701 |
34 | V>I | No |
ClinGen gnomAD |
|
|
CA343881608 rs1310224880 |
36 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763084043 CA1289476 |
37 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764360827 CA1289477 |
37 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765780063 CA1289473 |
39 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1181417119 CA343881510 |
39 | P>R | No |
ClinGen gnomAD |
|
|
CA1289474 rs765780063 |
39 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA343881491 rs1253786086 |
40 | D>N | No |
ClinGen gnomAD |
|
|
CA1289472 rs760056831 |
41 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA343881409 rs777155352 |
43 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs771204230 CA1289470 |
43 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1226141806 CA343881359 |
44 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343881250 rs1406856412 |
46 | A>V | No |
ClinGen gnomAD |
|
|
CA343881175 rs1290602644 |
48 | T>I | No |
ClinGen gnomAD |
|
|
rs772807778 CA1289467 |
49 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1289466 rs771820572 |
51 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs932744924 CA33389667 |
52 | A>T | No |
ClinGen Ensembl |
|
|
rs1158509653 CA343881046 |
53 | P>A | No |
ClinGen gnomAD |
|
|
CA1289465 rs370732709 |
54 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778590946 CA1289464 |
55 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199956086 CA1289463 |
56 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199956086 CA343880875 |
56 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571364614 CA343880834 |
57 | P>R | No |
ClinGen Ensembl |
|
|
rs1471166193 CA343880866 |
57 | P>S | No |
ClinGen TOPMed |
|
|
rs749190997 CA1289461 |
58 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA343880739 rs755915918 |
59 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1289459 rs755915918 |
59 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1571364577 CA343880701 |
60 | A>S | No |
ClinGen Ensembl |
|
|
CA1289458 rs750224358 |
60 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1330461015 CA343880645 |
61 | Q>R | No |
ClinGen gnomAD |
|
|
CA1289457 rs777894296 |
62 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758595229 CA1289456 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765330105 CA33389637 |
63 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765330105 CA1289454 |
63 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289453 rs759545650 |
64 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390894048 CA343880469 |
66 | S>C | No |
ClinGen gnomAD |
|
|
CA33389624 rs868246980 |
67 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343880441 rs1413832935 |
67 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343880368 rs1197354607 |
68 | S>F | No |
ClinGen gnomAD |
|
|
rs1174052925 CA343880366 |
69 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs147387711 CA1289449 |
71 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147387711 CA343880229 |
71 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773605511 CA1289448 |
72 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289446 rs761591548 |
73 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343880110 rs1202086354 |
75 | E>V | No |
ClinGen TOPMed |
|
|
rs144761784 CA1289445 |
76 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA33389609 rs752960639 |
78 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1223849471 CA343878352 |
80 | R>K | No |
ClinGen TOPMed |
|
|
rs766845969 CA1289429 |
82 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343878245 rs1213022796 |
84 | I>T | No |
ClinGen TOPMed |
|
|
rs1163503159 CA343878249 |
84 | I>V | No |
ClinGen gnomAD |
|
|
rs1415307306 CA343878206 |
86 | R>K | No |
ClinGen gnomAD |
|
|
CA343878188 rs1330348244 |
87 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs762206752 CA1289425 |
91 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774200818 COSM1337085 CA1289424 |
92 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs962135877 CA33388613 |
92 | E>K | No |
ClinGen Ensembl |
|
|
CA343878113 rs1183255357 |
93 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343878105 rs1481759542 |
93 | N>S | No |
ClinGen gnomAD |
|
|
rs1221078890 CA343878020 |
99 | D>G | No |
ClinGen gnomAD |
|
|
rs1322446858 CA343878006 |
100 | G>E | No |
ClinGen gnomAD |
|
|
rs1226561309 CA343877981 |
102 | F>V | No |
ClinGen gnomAD |
|
|
rs1288758182 CA343877946 |
103 | D>Y | No |
ClinGen gnomAD |
|
|
rs1392881773 CA343877915 |
105 | A>G | No |
ClinGen gnomAD |
|
|
CA343877912 rs1365081992 |
106 | S>G | No |
ClinGen gnomAD |
|
|
CA1289420 rs769139860 |
108 | L>S | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs776486368 CA1289419 |
113 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA1289418 rs776486368 |
113 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1456113400 CA343877792 |
115 | A>S | No |
ClinGen gnomAD |
|
|
rs1456113400 CA343877788 |
115 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763892233 CA1289399 |
116 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA343876635 rs200467304 |
117 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139038962 CA1289395 |
118 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375860895 CA1289393 |
120 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1289392 rs375860895 |
120 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343876516 rs1255194015 |
120 | A>V | No |
ClinGen gnomAD |
|
|
rs78652979 CA1289391 |
121 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs78652979 CA33388249 |
121 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1289389 rs780078406 |
122 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1289387 rs756271493 |
122 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780078406 CA1289388 |
122 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs780078406 CA1289390 |
122 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1289384 rs745934308 |
123 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs752067642 CA1289383 |
124 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 124 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1289382 rs752067642 |
124 | C>W | No |
ClinGen ExAC |
|
|
rs1400611770 CA343876228 |
125 | P>L | No |
ClinGen gnomAD |
|
|
CA1289380 rs373143474 |
125 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373143474 CA1289379 |
125 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1289378 rs764784262 |
126 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289377 rs764784262 |
126 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289376 rs759114325 |
128 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1289375 rs753323072 |
129 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343875974 rs1166994865 |
131 | A>P | No |
ClinGen gnomAD |
|
|
CA1289374 rs370739293 |
132 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA33388222 rs79681782 |
133 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA33388224 rs79681782 |
133 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1289373 rs760635408 |
134 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs151195858 CA33388218 |
134 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs940198509 CA33388216 |
135 | H>Y | No |
ClinGen gnomAD |
|
|
CA1289371 rs771911995 |
137 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1289370 rs368376702 |
138 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1486552977 CA343875683 |
138 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1289369 rs775844209 |
139 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA343875669 rs1176091618 |
139 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1378895035 CA343875610 |
140 | H>L | No |
ClinGen TOPMed |
|
|
CA343875495 rs1455517592 |
143 | N>K | No |
ClinGen TOPMed |
|
|
CA1289368 rs769880740 |
146 | W>C | No |
ClinGen ExAC |
|
| TCGA novel | 156 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915813047 CA343873461 |
159 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA33387462 rs915813047 |
159 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343873389 rs1234366672 |
161 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA343873400 rs1379989193 |
161 | H>R | No |
ClinGen TOPMed |
|
|
rs1196392876 CA343873344 |
163 | P>L | No |
ClinGen gnomAD |
|
|
CA33387460 rs974354008 |
163 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 163 | P>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1289345 rs771150176 |
166 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1289342 rs112100541 |
169 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200939961 CA1289343 |
169 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200939961 CA33387451 |
169 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571355953 CA343873093 |
175 | Q>* | No |
ClinGen Ensembl |
|
|
rs1346849261 CA343872844 |
176 | I>V | No |
ClinGen gnomAD |
|
|
CA343872816 rs1380165029 |
178 | S>C | No |
ClinGen gnomAD |
|
|
rs1413745686 CA343872786 |
180 | M>T | No |
ClinGen gnomAD |
|
|
CA1289328 rs762780477 |
181 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs766704960 CA1289327 |
182 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766704960 CA1289326 |
182 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1447267617 CA343872770 |
182 | A>V | No |
ClinGen gnomAD |
|
|
CA1289324 rs773187432 |
184 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs894875184 CA33387093 |
187 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1289321 rs774862497 |
187 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1289322 rs748606267 |
187 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769063354 CA343872733 |
188 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1289320 rs769063354 |
188 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1289319 rs749646628 |
195 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755738256 CA1289317 |
203 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA343872621 rs939000328 COSM900909 |
205 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA33387079 rs939000328 |
205 | R>G | No |
ClinGen TOPMed |
|
|
CA1289315 rs145284891 |
205 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA1289316 rs145284891 |
205 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA33387073 rs867310609 |
206 | H>R | No |
ClinGen Ensembl |
|
|
rs1163710236 CA343872516 |
211 | E>D | No |
ClinGen Ensembl |
|
|
CA33387070 rs918272728 |
211 | E>G | No |
ClinGen TOPMed |
|
|
CA1289314 rs756722870 |
211 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 213 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751468468 CA1289313 |
213 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs868435088 CA33387064 |
214 | S>F | No |
ClinGen Ensembl |
|
|
CA1289312 rs764115207 |
215 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA33387060 rs995312610 |
217 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343872395 rs1473667436 |
218 | A>T | No |
ClinGen TOPMed |
|
|
CA343872178 rs1557990887 |
220 | S>F | No |
ClinGen Ensembl |
|
|
CA343872160 rs1461385483 |
221 | T>A | No |
ClinGen gnomAD |
|
|
rs114355007 CA1289293 |
222 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1214654475 CA343872122 |
223 | K>E | No |
ClinGen TOPMed |
|
|
CA343872082 rs1274983753 |
224 | P>T | No |
ClinGen TOPMed |
|
|
CA343871997 rs1484665278 |
227 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777898690 CA1289292 |
228 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289290 rs752642001 |
233 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1289291 rs200802961 |
233 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM225451 rs778856321 CA1289289 |
234 | T>M | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs577145249 CA33386775 |
235 | D>N | No |
ClinGen Ensembl |
|
|
rs1571354003 CA343871726 |
237 | Q>R | No |
ClinGen Ensembl |
|
|
CA343871671 rs1557990845 |
239 | C>S | No |
ClinGen Ensembl |
|
|
rs535319004 CA1289286 |
240 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1371567941 CA343871603 |
241 | N>S | No |
ClinGen TOPMed |
|
|
CA343871569 rs1571353977 |
242 | Y>C | No |
ClinGen Ensembl |
|
|
CA1289285 rs761836309 |
243 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1031912156 CA33386772 |
243 | S>P | No |
ClinGen Ensembl |
|
|
CA343871501 rs1316192751 |
244 | I>M | No |
ClinGen gnomAD |
|
|
CA1289284 rs751612882 |
245 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289283 rs376174771 |
246 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763485397 CA1289282 |
249 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1289281 rs373060680 |
250 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343871339 rs1433367391 |
250 | S>Y | No |
ClinGen TOPMed |
|
|
CA343871325 COSM69920 rs1441063287 |
251 | Y>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs891380186 CA33386763 |
252 | F>C | No |
ClinGen TOPMed |
|
|
rs770069989 CA1289280 |
252 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328594302 CA343871275 |
253 | N>Y | No |
ClinGen gnomAD |
|
|
CA1289279 rs759934706 |
254 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 256 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745849394 CA33386756 |
260 | R>P | No |
ClinGen gnomAD |
|
|
rs745849394 CA343871103 |
260 | R>Q | No |
ClinGen gnomAD |
|
|
CA1289277 rs371545842 |
260 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA343870988 rs1373200877 |
261 | Q>H | No |
ClinGen TOPMed |
|
|
rs1396983278 CA343870986 |
262 | L>I | No |
ClinGen gnomAD |
|
|
CA1289262 rs759860174 |
263 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1431520337 CA343870916 |
266 | T>A | No |
ClinGen TOPMed |
|
|
CA1289261 rs777032620 |
268 | A>P | No |
ClinGen ExAC |
|
|
CA1289259 rs369669193 |
269 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1289260 rs369669193 |
269 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1289258 rs772941736 |
271 | A>S | No |
ClinGen ExAC |
|
|
CA1289257 rs771763449 |
272 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 272 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571353523 CA343870771 |
273 | E>G | No |
ClinGen Ensembl |
|
|
CA1289256 rs747654577 |
274 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571353504 CA343870700 |
275 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 275 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA33386629 rs757326905 |
279 | C>R | No |
ClinGen Ensembl |
|
|
rs1271896658 CA343870423 |
283 | F>L | No |
ClinGen gnomAD |
|
|
CA1289254 rs768613869 |
285 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1326483262 CA343870404 |
285 | A>V | No |
ClinGen gnomAD |
|
|
CA1289236 rs562672448 |
288 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1289235 rs368130438 |
289 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778886537 CA33386045 |
289 | M>V | No |
ClinGen Ensembl |
|
|
CA1289234 rs72741812 |
296 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1433379910 CA343869273 |
296 | H>Y | No |
ClinGen TOPMed |
|
|
CA1289233 rs775237107 |
297 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA343869243 rs1229242865 |
299 | N>K | No |
ClinGen TOPMed |
|
|
CA343869246 rs1307689602 |
299 | N>S | No |
ClinGen TOPMed |
|
|
CA343869236 rs1253730643 |
301 | V>I | No |
ClinGen TOPMed |
|
|
rs778011357 CA1289230 |
304 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1289229 rs143021633 |
305 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143629808 CA1289228 |
306 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs143629808 CA33386031 |
306 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1437981524 CA343869188 |
308 | L>S | No |
ClinGen gnomAD |
|
|
rs1032164560 CA33386027 |
313 | V>L | No |
ClinGen TOPMed |
|
|
rs1262247904 CA343869144 |
314 | T>I | No |
ClinGen TOPMed |
|
|
rs1001130624 CA33386024 |
315 | L>P | No |
ClinGen TOPMed |
|
|
rs766988222 CA1289224 |
324 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750791776 CA1289222 |
327 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756585761 CA1289223 |
327 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408914007 CA343869031 |
331 | S>G | No |
ClinGen TOPMed |
|
|
rs761587178 CA1289220 |
331 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289219 rs773805422 |
333 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA343868979 rs1288653831 |
337 | S>R | No |
ClinGen TOPMed |
|
|
CA1289218 rs79124087 |
338 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA33386008 rs1045430274 |
340 | I>T | No |
ClinGen TOPMed |
|
|
CA343868905 rs1281007649 |
343 | E>G | No |
ClinGen TOPMed |
|
|
CA343868915 rs1326563972 |
343 | E>K | No |
ClinGen gnomAD |
|
|
CA343868890 rs1557989247 |
344 | G>E | No |
ClinGen Ensembl |
|
|
rs775568327 CA1289215 |
345 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM159542 rs769691761 CA1289214 |
346 | K>N | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1289213 rs557667926 |
349 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs557667926 CA343868798 |
349 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546085666 CA1289212 |
350 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770674466 CA1289211 |
350 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770674466 CA343868767 |
350 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214873274 CA343868679 |
353 | V>L | No |
ClinGen gnomAD |
|
|
rs1214873274 CA343868685 |
353 | V>M | No |
ClinGen gnomAD |
|
|
CA1289209 rs778988404 |
354 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768845187 CA1289208 |
355 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282626459 CA343868413 |
360 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs370110033 CA1289207 |
363 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343868302 rs1267064049 |
364 | L>F | No |
ClinGen TOPMed |
|
|
CA1289206 rs780755204 |
365 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343868222 rs1571351077 |
366 | S>C | No |
ClinGen Ensembl |
|
|
CA343868092 rs1200197232 |
370 | I>T | No |
ClinGen TOPMed |
|
|
CA343867775 rs1431367362 |
371 | H>R | No |
ClinGen gnomAD |
|
|
CA33385888 rs914000813 |
371 | H>Y | No |
ClinGen Ensembl |
|
|
rs1328046505 CA343867502 |
378 | S>P | No |
ClinGen gnomAD |
|
|
rs1310791506 CA343867466 |
379 | V>L | No |
ClinGen gnomAD |
|
|
CA1289182 rs751843183 |
384 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175096492 CA343867209 |
385 | A>S | No |
ClinGen gnomAD |
|
|
rs758010145 CA1289180 |
387 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs987822180 CA33385875 |
389 | I>R | No |
ClinGen TOPMed |
|
|
rs923049524 CA33385878 |
389 | I>V | No |
ClinGen TOPMed |
|
|
rs1167914468 CA343867072 |
391 | N>Y | No |
ClinGen gnomAD |
|
|
CA1289179 rs752306525 |
392 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs758989886 CA1289177 |
394 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs753837611 CA1289176 |
395 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA343866840 rs1258533743 |
401 | D>G | No |
ClinGen gnomAD |
|
|
CA1289175 rs367918583 |
402 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771856900 CA1289172 |
413 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986440156 CA1289169 |
414 | R>Q | No |
ClinGen Ensembl |
|
|
rs1470952546 CA343866508 |
415 | R>C | No |
ClinGen TOPMed |
|
|
rs775794292 CA1289168 |
415 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 417 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 418 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343866462 rs1439566929 |
418 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1289164 rs375199980 |
423 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1289161 rs758725031 |
427 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA1289159 rs778531861 |
432 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA343866230 rs1479740292 |
434 | I>T | No |
ClinGen gnomAD |
|
|
CA33385807 rs969185393 |
435 | V>I | No |
ClinGen TOPMed |
|
|
CA1289158 rs754521537 |
438 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA33385804 rs1024081713 |
439 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 441 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs190177287 CA1289140 |
443 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1289139 rs779430928 |
444 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746929885 CA1289138 |
445 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1482815387 CA343893141 |
445 | R>Q | No |
ClinGen TOPMed |
|
|
rs774291927 CA1289137 |
446 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148611463 CA33450893 |
450 | I>M | No |
ClinGen ESP |
|
|
rs767483087 CA1289136 |
450 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs725847 CA33450887 |
451 | E>Q | No |
ClinGen Ensembl |
|
|
rs1557988447 CA343892826 |
456 | V>M | No |
ClinGen Ensembl |
|
|
CA343892770 rs1421682122 |
458 | L>V | No |
ClinGen gnomAD |
|
|
CA1289132 rs377360983 |
466 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144963644 CA1289131 |
467 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1289130 rs766384504 |
472 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289129 rs760796359 |
472 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343892371 rs766384504 |
472 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343892396 rs766384504 |
472 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1289128 rs773631363 |
473 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343892297 rs1485452995 |
474 | S>L | No |
ClinGen gnomAD |
|
|
rs1218342053 CA343892290 |
475 | A>T | No |
ClinGen gnomAD |
|
|
rs1345218520 CA343892267 |
476 | D>G | No |
ClinGen gnomAD |
|
|
rs1279036186 CA343892243 |
477 | E>* | No |
ClinGen gnomAD |
|
|
rs762258694 CA1289126 |
478 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343892191 rs1557988401 |
479 | A>T | No |
ClinGen Ensembl |
|
|
rs774729165 CA1289125 |
480 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 480 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381020736 CA343892129 |
481 | K>E | No |
ClinGen gnomAD |
|
|
CA343892114 rs1342985006 |
481 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 482 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299122261 CA343891875 |
486 | I>N | No |
ClinGen gnomAD |
|
|
rs769252308 CA1289121 |
489 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA343891343 rs1281328059 |
499 | D>E | No |
ClinGen TOPMed |
|
|
rs1379430696 CA343891298 |
501 | N>S | No |
ClinGen gnomAD |
|
|
rs1311570147 CA343891264 |
502 | M>T | No |
ClinGen TOPMed |
|
|
rs1015039806 CA33450806 |
503 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA343891184 rs1168317261 |
504 | E>D | No |
ClinGen gnomAD |
|
|
CA343891173 rs1427779485 |
505 | E>K | No |
ClinGen gnomAD |
|
|
CA343889508 rs1201074788 |
508 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs376356749 CA33444260 |
509 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1278084077 CA343889416 |
512 | P>L | No |
ClinGen gnomAD |
|
|
CA343889352 rs1201099038 |
514 | N>K | No |
ClinGen gnomAD |
|
|
rs1360311756 CA343889263 |
518 | S>G | No |
ClinGen TOPMed |
|
|
rs566590049 CA1289081 |
522 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1571344407 CA343889086 |
525 | I>V | No |
ClinGen Ensembl |
|
|
CA343887850 rs1390561547 |
532 | S>A | No |
ClinGen TOPMed |
|
|
rs766099997 CA1289060 |
535 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 536 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343887742 rs1484096589 |
537 | N>H | No |
ClinGen Ensembl |
|
|
CA33441440 rs772419633 |
537 | N>S | No |
ClinGen TOPMed |
|
|
CA343887688 rs1347213890 |
539 | G>* | No |
ClinGen gnomAD |
|
|
rs1015591613 CA33441397 |
546 | F>L | No |
ClinGen Ensembl |
|
|
rs1438516870 CA343887465 |
548 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 548 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1013631737 CA33441395 |
551 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343887306 rs1317299108 |
554 | D>H | No |
ClinGen gnomAD |
|
|
CA33441393 rs199733622 |
556 | I>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA343887232 rs199733622 |
556 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs771416721 CA1289058 |
557 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA33441370 rs896461743 |
558 | T>I | No |
ClinGen Ensembl |
|
|
rs1362017260 CA343887118 |
559 | L>P | No |
ClinGen gnomAD |
|
|
CA343887096 rs1433546583 |
560 | I>T | No |
ClinGen TOPMed |
|
|
CA343887059 rs1320233017 |
562 | T>S | No |
ClinGen TOPMed |
|
|
rs748129246 CA1289056 |
565 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1173682438 CA343886888 |
568 | E>D | No |
ClinGen gnomAD |
|
|
CA1289053 rs768558944 |
570 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193345797 CA343886791 |
572 | Q>H | No |
ClinGen gnomAD |
|
|
CA1289051 rs372163711 |
576 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757495654 CA1289050 |
577 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1208982042 CA343886651 |
579 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343886641 rs1208982042 |
579 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343886610 rs1257255833 |
580 | S>Y | No |
ClinGen TOPMed |
|
|
CA1289048 rs374771924 |
582 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343886496 rs1380684870 |
583 | V>A | No |
ClinGen gnomAD |
|
|
CA1289047 rs142906342 |
584 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1289046 rs200485806 |
585 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA33440429 rs374273780 |
588 | E>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1050147154 CA33440400 |
589 | N>S | No |
ClinGen Ensembl |
|
|
rs1163164472 CA343885594 |
591 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343885578 rs941645198 |
592 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA343885572 rs941645198 |
592 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA33440396 rs941645198 |
592 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA33440379 rs995007513 |
593 | I>T | No |
ClinGen gnomAD |
|
|
CA1289027 rs148293273 |
593 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343885413 rs1179197380 |
595 | T>S | No |
ClinGen gnomAD |
|
|
CA343885401 rs1432423220 |
596 | T>A | No |
ClinGen TOPMed |
|
|
rs1459000239 CA343885384 |
596 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA33440366 rs541908863 |
597 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA343885364 rs541908863 |
597 | D>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs770328321 CA1289026 |
599 | T>N | No |
ClinGen ExAC |
|
|
CA343885310 rs1322080089 |
600 | T>A | No |
ClinGen gnomAD |
|
|
rs1221713704 CA343885274 |
602 | D>V | No |
ClinGen gnomAD |
|
|
CA1289025 rs748146555 |
603 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1571341796 CA343885222 |
604 | Y>D | No |
ClinGen Ensembl |
|
|
rs1309284266 CA343885179 |
606 | A>V | No |
ClinGen gnomAD |
|
|
CA343885164 rs1253757017 |
607 | Q>R | No |
ClinGen TOPMed |
|
|
CA343885155 rs1448195031 |
608 | G>R | No |
ClinGen gnomAD |
|
|
CA1289002 rs749864131 |
611 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1289000 rs756585849 |
612 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA343883611 rs1257261643 |
612 | S>N | No |
ClinGen TOPMed |
|
|
CA1289001 rs756585849 |
612 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA33437345 rs998983245 |
613 | N>I | No |
ClinGen Ensembl |
|
|
rs781569516 CA1288998 |
613 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343883466 rs1263512818 |
617 | T>I | No |
ClinGen gnomAD |
|
|
CA1288997 rs756888660 |
618 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA1288996 rs199729807 |
619 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343883325 rs1571339977 |
622 | K>R | No |
ClinGen Ensembl |
|
|
rs752698833 CA1288993 |
626 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752698833 CA343883227 |
626 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867387034 CA33437210 |
628 | S>I | No |
ClinGen Ensembl |
|
|
rs765131830 CA1288992 |
629 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA343883101 rs776315469 |
630 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1288991 rs759378445 |
630 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1186933884 CA343883030 |
633 | P>A | No |
ClinGen TOPMed |
|
|
rs796581583 CA33437197 |
636 | Y>* | No |
ClinGen Ensembl |
|
| TCGA novel | 637 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343882877 rs1402009616 |
637 | N>S | No |
ClinGen gnomAD |
|
|
CA343882802 rs1400172826 |
640 | R>G | No |
ClinGen gnomAD |
|
|
CA1288987 rs774615406 |
643 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA343882589 rs1360866088 |
646 | M>I | No |
ClinGen gnomAD |
|
|
rs1367586946 CA343882255 |
653 | K>R | No |
ClinGen gnomAD |
|
|
rs1247726125 CA343882113 |
656 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1247726125 CA343882117 |
656 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs370765259 CA1288972 |
657 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343882067 rs370765259 |
657 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 659 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343881967 rs1279500339 |
661 | A>V | No |
ClinGen TOPMed |
|
|
CA33437007 rs866952288 |
662 | G>D | No |
ClinGen Ensembl |
|
|
rs1457671073 CA343881878 |
664 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343881861 rs1259143514 |
664 | R>P | No |
ClinGen gnomAD |
|
|
rs1259143514 CA343881866 |
664 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA33436998 rs909764873 |
665 | V>I | No |
ClinGen Ensembl |
|
|
rs760511079 CA1288970 |
667 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1288969 rs774750993 |
673 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA33436979 rs1046962945 |
675 | V>I | No |
ClinGen gnomAD |
|
|
COSM208895 rs764389177 CA1288968 |
676 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs929846222 CA33436975 |
677 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 681 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343881135 rs763217069 |
686 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1288967 rs763217069 |
686 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1288965 rs769926700 |
687 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1288966 rs775742776 |
687 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 689 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 691 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777183997 CA1288963 |
693 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1288962 rs764498865 |
696 | Y>C | No |
ClinGen ExAC |
|
|
rs1341101347 CA343880735 |
697 | T>A | No |
ClinGen gnomAD |
|
|
CA343880561 rs1450312120 |
701 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA343880564 rs1450312120 |
701 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA343880516 rs1267029879 |
703 | S>G | No |
ClinGen gnomAD |
|
|
rs1557982865 CA343880444 |
704 | H>Y | No |
ClinGen Ensembl |
|
|
CA343880295 rs1172622150 |
707 | S>* | No |
ClinGen TOPMed |
|
|
CA1288955 rs771737496 |
711 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777455821 CA1288956 |
711 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1417343597 CA343880174 |
712 | T>A | No |
ClinGen TOPMed |
|
|
rs746828583 CA33436842 |
714 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA343880117 rs746828583 |
714 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747762957 CA1288954 |
715 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1288951 rs143307217 |
717 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1288952 rs778401376 |
717 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA343880019 rs1329554835 |
719 | M>V | No |
ClinGen TOPMed |
|
|
rs753782512 CA1288950 |
723 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA343879877 rs1388181268 |
724 | K>N | No |
ClinGen gnomAD |
|
|
CA1288949 rs780005499 |
724 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA343879871 rs1358274450 |
725 | A>T | No |
ClinGen gnomAD |
|
|
rs755911496 CA1288948 |
726 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs755911496 CA343879857 |
726 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1288947 rs750264594 |
727 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1381621721 CA343879830 |
727 | A>V | No |
ClinGen gnomAD |
|
|
rs368015762 CA1288946 |
728 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1288945 rs763270119 |
729 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA343879804 rs752911882 |
729 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs752911882 CA1288944 |
729 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1168565673 CA343879798 |
730 | C>R | No |
ClinGen gnomAD |
|
|
rs1463274194 CA343879741 |
733 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343879738 rs1571339612 |
734 | W>E | No |
ClinGen Ensembl |
No associated diseases with Q7Z2T5
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| tRNA (guanine-N2-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + tRNA containing guanine = S-adenosyl-L-homocysteine + tRNA containing N2-methylguanine. |
| tRNA binding | Binding to a transfer RNA. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| behavior | The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. |
| tRNA N2-guanine methylation | The process whereby a guanine in a tRNA is methylated at the N2 position of guanine. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NXH9 | TRMT1 | tRNA (guanine(26)-N(2))-dimethyltransferase | Homo sapiens (Human) | PR |
| Q3TX08 | Trmt1 | tRNA (guanine(26)-N(2))-dimethyltransferase | Mus musculus (Mouse) | PR |
| Q9LFU5 | At5g15810 | Probable tRNA (guanine(26)-N(2))-dimethyltransferase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SRU7 | At3g02320 | Probable tRNA (guanine(26)-N(2))-dimethyltransferase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MENMAEEELL | PLEKEEVEVA | QVQVPTPARD | SAGVPAPAPD | SALDSAPTPA | SAPAPAPALA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QAPALSPSLA | SAPEEAKSKR | HISIQRQLAD | LENLAFVTDG | NFDSASSLNS | DNLDAGNRQA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CPLCPKEKFR | ACNSHKLRRH | LQNLHWKVSV | EFEGYRMCIC | HLPCRPVKPN | IIGEQITSKM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAHYHCIICS | ATITRRTDML | GHVRRHMNKG | ETKSSYIAAS | TAKPPKEILK | EADTDVQVCP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NYSIPQKTDS | YFNPKMKLNR | QLIFCTLAAL | AEERKPLECL | DAFGATGIMG | LQWAKHLGNA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VKVTINDLNE | NSVTLIQENC | HLNKLKVVVD | SKEKEKSDDI | LEEGEKNLGN | IKVTKMDANV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LMHLRSFDFI | HLDPFGTSVN | YLDSAFRNIR | NLGIVSVTST | DISSLYAKAQ | HVARRHYGCN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IVRTEYYKEL | AARIVVAAVA | RAAARCNKGI | EVLFAVALEH | FVLVVVRVLR | GPTSADETAK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KIQYLIHCQW | CEERIFQKDG | NMVEENPYRQ | LPCNCHGSMP | GKTAIELGPL | WSSSLFNTGF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LKRMLFESLH | HGLDDIQTLI | KTLIFESECT | PQSQFSIHAS | SNVNKQEENG | VFIKTTDDTT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TDNYIAQGKR | KSNEMITNLG | KKQKTDVSTE | HPPFYYNIHR | HSIKGMNMPK | LKKFLCYLSQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AGFRVSRTHF | DPMGVRTDAP | LMQFKSILLK | YSTPTYTGGQ | SESHVQSASE | DTVTERVEMS |
| 730 | |||||
| VNDKAEASGC | RRW |