Q96FX7
Gene name |
TRMT61A (C14orf172, TRM61) |
Protein name |
tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A |
Names |
mRNA methyladenosine-N(1)-methyltransferase catalytic subunit TRMT61A, tRNA(m1A58)-methyltransferase subunit TRMT61A, tRNA(m1A58)MTase subunit TRMT61A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:115708 |
EC number |
2.1.1.220: 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
Autoinhibited structure
Activated structure
4 structures for Q96FX7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5CCB | X-ray | 200 A | A | 1-289 | PDB |
| 5CCX | X-ray | 210 A | A | 1-289 | PDB |
| 5CD1 | X-ray | 360 A | A/D | 1-289 | PDB |
| AF-Q96FX7-F1 | Predicted | AlphaFoldDB |
262 variants for Q96FX7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs761068650 CA7364771 |
6 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA391099449 rs1595999253 |
12 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 14 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754364939 CA7364773 |
15 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA391099530 rs1177017098 |
17 | I>V | No |
ClinGen gnomAD |
|
|
CA391099567 rs1409110452 |
19 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755526697 CA7364774 |
20 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA391099584 rs1160756318 |
21 | G>D | No |
ClinGen gnomAD |
|
|
rs1169496906 CA391099580 |
21 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1433539750 CA391099593 |
22 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1433539750 CA391099598 |
22 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA267199925 rs1015959998 |
23 | G>V | No |
ClinGen gnomAD |
|
|
rs1310750477 CA391099637 |
24 | A>S | No |
ClinGen TOPMed |
|
|
CA391099641 rs1446903310 |
24 | A>V | No |
ClinGen TOPMed |
|
|
rs1053740482 CA267199928 |
25 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7364780 rs777614755 |
29 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770693525 CA7364782 |
30 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746626061 CA7364781 CA267199946 |
30 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391099773 rs1299453853 |
31 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 32 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391099806 rs1347302827 |
32 | R>L | No |
ClinGen gnomAD |
|
|
CA7364783 rs781028110 |
34 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs906582729 CA267199989 |
35 | Q>R | No |
ClinGen TOPMed |
|
|
CA267200007 rs879400235 |
36 | T>N | No |
ClinGen gnomAD |
|
|
CA7364785 rs769773824 |
37 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 38 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160460352 CA391099886 |
38 | T>P | No |
ClinGen TOPMed |
|
|
rs775243452 CA7364786 |
39 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391099902 rs775243452 |
39 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364787 rs775243452 |
39 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364789 COSM1368423 rs773491301 |
41 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs867972068 CA267200048 |
44 | R>Q | No |
ClinGen Ensembl |
|
|
rs200167911 CA7364790 |
44 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391099997 rs1173744772 |
47 | V>L | No |
ClinGen gnomAD |
|
|
CA7364792 rs777061390 |
48 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA7364793 COSM138951 rs759781932 |
49 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1449356725 CA391100054 |
52 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7364795 rs753230778 |
52 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364798 rs751315445 |
55 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364799 rs370903427 |
57 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1595999339 CA391100112 |
58 | V>G | No |
ClinGen Ensembl |
|
|
CA391100105 rs1025459974 |
58 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1025459974 CA267200081 |
58 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs780641430 CA7364800 |
59 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1240239856 CA391100123 |
59 | T>M | No |
ClinGen TOPMed |
|
|
rs1222522166 CA391100135 |
60 | C>Y | No |
ClinGen TOPMed |
|
|
CA391100156 rs1230227834 |
62 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1274305713 CA391100165 |
63 | G>C | No |
ClinGen gnomAD |
|
|
CA391100185 rs1309675533 |
64 | G>V | No |
ClinGen gnomAD |
|
|
rs1252710810 CA391100189 |
65 | W>R | No |
ClinGen gnomAD |
|
| VAR_026053 | 66 | V>A | No | UniProt | |
|
rs1595999354 CA391100215 |
66 | V>G | No |
ClinGen Ensembl |
|
|
rs1595999357 CA391100260 |
70 | H>P | No |
ClinGen Ensembl |
|
|
rs749220064 CA7364805 |
70 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474135564 CA391100281 |
71 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360026528 CA391100321 |
73 | P>S | No |
ClinGen TOPMed |
|
|
rs923564404 CA267200139 |
74 | E>K | No |
ClinGen Ensembl |
|
|
CA391100358 rs1162551813 |
75 | L>V | No |
ClinGen gnomAD |
|
|
rs776671417 CA7364810 |
79 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA7364811 rs759991995 |
80 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7364813 rs765484716 |
81 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765484716 CA7364812 |
81 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs984025691 CA267200160 |
84 | T>M | No |
ClinGen TOPMed |
|
|
CA7364815 rs764638376 |
86 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7364816 rs751119248 |
88 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7364817 rs756680077 |
89 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1227048614 CA391100607 |
90 | T>A | No |
ClinGen gnomAD |
|
|
CA391100656 rs1388982778 |
93 | A>P | No |
ClinGen Ensembl |
|
|
CA391100689 rs1274643478 |
95 | I>L | No |
ClinGen gnomAD |
|
|
rs1476358213 CA391100720 |
97 | M>T | No |
ClinGen gnomAD |
|
|
rs756005027 CA7364822 |
97 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA391100744 rs1460619061 |
98 | M>I | No |
ClinGen Ensembl |
|
|
rs373763921 CA7364823 |
98 | M>T | No |
ClinGen ESP ExAC |
|
|
CA7364824 rs749028868 |
101 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs754918409 CA391100785 |
102 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364825 rs754918409 |
102 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391100780 rs1216954046 |
102 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7364828 rs375622926 |
103 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7364827 rs375622926 |
103 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185709260 CA391100799 |
104 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746069691 CA7364830 |
105 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7364831 rs746069691 |
105 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1356563065 CA391100837 |
107 | V>D | No |
ClinGen gnomAD |
|
|
CA7364835 rs774949247 |
107 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs766933931 CA7364837 |
108 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374883444 CA7364836 |
108 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1166656830 CA391101302 |
114 | S>N | No |
ClinGen gnomAD |
|
|
rs1566965868 CA391101317 |
116 | S>C | No |
ClinGen Ensembl |
|
|
rs1439207524 CA391101314 |
116 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs750500071 CA7364866 |
118 | S>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1230471 rs1566965877 CA391101338 |
120 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA7364868 rs780471368 |
121 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267201971 rs534908470 |
122 | I>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs749517669 CA7364869 |
123 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368720777 CA7364870 |
123 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7364871 rs779158678 |
125 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA391101367 rs1249524293 |
125 | I>V | No |
ClinGen gnomAD |
|
|
CA7364872 rs748480452 |
126 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1259701038 CA391101375 |
126 | A>V | No |
ClinGen gnomAD |
|
|
rs772491014 CA7364873 |
128 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455630646 CA391101388 |
129 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7364877 rs778902763 |
133 | T>M | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1435043877 CA391101427 |
135 | E>Q | No |
ClinGen TOPMed |
|
|
rs901137937 CA267202043 |
138 | Q>R | No |
ClinGen TOPMed |
|
|
COSM1368425 CA267202058 rs997419700 |
140 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA391101465 rs369292682 |
140 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7364881 rs764882612 |
142 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA391101514 rs762768998 |
144 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364882 rs537191569 |
144 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762768998 CA7364883 |
144 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7364885 rs373651893 |
145 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763960359 CA7364884 |
145 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259753689 CA391101533 |
146 | E>G | No |
ClinGen gnomAD |
|
|
CA7364887 rs557071436 |
148 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7364888 rs753912375 |
148 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244674336 CA391101573 |
149 | Q>* | No |
ClinGen TOPMed |
|
|
rs1244674336 CA391101575 |
149 | Q>E | No |
ClinGen TOPMed |
|
|
rs200065262 CA7364889 |
149 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1203499344 CA391101616 |
151 | H>Q | No |
ClinGen gnomAD |
|
|
rs1566965933 CA391101610 |
151 | H>R | No |
ClinGen Ensembl |
|
|
CA391101620 rs376660789 |
152 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376660789 CA7364891 |
152 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758770178 CA7364893 |
152 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364892 rs758770178 |
152 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364890 rs376660789 |
152 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs931727832 CA267202116 |
153 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs931727832 CA391101626 |
153 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs747508008 CA7364894 |
155 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364896 rs542612707 |
155 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA391101656 rs542612707 |
155 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7364895 rs747508008 |
155 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364898 rs745307285 |
159 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs769362508 CA7364899 |
160 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1383534911 CA391101716 |
160 | R>H | No |
ClinGen gnomAD |
|
|
CA7364900 rs775159038 |
161 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364901 rs762704130 |
162 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353386009 CA391101751 |
163 | D>N | No |
ClinGen gnomAD |
|
|
CA7364903 rs774489533 |
164 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761857212 CA7364904 |
165 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA391101795 rs1237071462 |
166 | R>C | No |
ClinGen gnomAD |
|
|
rs767496789 CA7364905 |
166 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767496789 CA391101798 |
166 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391101846 rs1486226850 |
170 | G>S | No |
ClinGen gnomAD |
|
|
CA267202157 rs373210459 |
171 | V>A | No |
ClinGen gnomAD |
|
|
CA7364907 rs559412988 |
171 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559412988 CA7364908 |
171 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA267202163 rs947583538 |
172 | S>N | No |
ClinGen Ensembl |
|
|
rs573048606 CA7364909 |
174 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 175 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA391101907 rs1425196207 |
175 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 175 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7364911 rs778183539 |
176 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364913 rs757761969 |
177 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 177 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769325334 CA7364916 |
178 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7364915 rs373346624 |
178 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7364918 rs748964962 |
182 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1317635039 CA391102024 COSM3814292 |
184 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA267202265 rs1001612874 |
185 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1057390847 CA267202271 |
187 | E>D | No |
ClinGen TOPMed |
|
|
CA7364920 rs376392701 |
189 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7364921 rs761662772 |
190 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA391102109 rs1479857418 |
191 | H>D | No |
ClinGen gnomAD |
|
|
rs1479857418 CA391102107 |
191 | H>N | No |
ClinGen gnomAD |
|
|
CA267202297 rs1047674008 |
192 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA267202294 rs772161793 |
192 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7364922 rs772161793 |
192 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs765359264 CA391102163 |
195 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765359264 CA7364925 |
195 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1367332209 CA391102166 |
195 | A>V | No |
ClinGen TOPMed |
|
|
CA391102170 rs1176685926 |
196 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7364927 rs569343687 |
199 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267203782 rs368193988 |
200 | G>D | No |
ClinGen ESP |
|
|
CA7364946 rs764319234 |
201 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774532983 CA7364947 |
202 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762203562 CA7364948 |
202 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA267203802 rs774532983 |
202 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478669697 CA391103077 |
203 | F>L | No |
ClinGen gnomAD |
|
|
rs767863051 CA7364949 |
208 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399457096 CA391103173 |
211 | E>K | No |
ClinGen TOPMed |
|
|
CA7364951 rs756650011 |
212 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA391103189 rs1299321554 |
213 | V>L | No |
ClinGen gnomAD |
|
|
rs1231875850 CA391103196 |
214 | Q>* | No |
ClinGen gnomAD |
|
|
rs766756858 CA7364952 |
215 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753411953 CA7364953 |
215 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364956 rs747802952 |
219 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778750446 CA7364955 |
219 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA391103231 rs747802952 |
219 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364959 rs746711512 |
220 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7364961 rs201788463 |
222 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7364963 rs201492241 |
223 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199930951 CA7364964 |
223 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7364967 rs201170066 |
224 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA267203932 rs561568871 |
224 | G>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA7364968 rs760901356 |
226 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA391103320 rs1312655879 |
227 | E>G | No |
ClinGen gnomAD |
|
|
rs1214778753 CA391103331 |
228 | L>P | No |
ClinGen TOPMed |
|
|
rs1341439003 CA391103337 |
229 | S>C | No |
ClinGen gnomAD |
|
|
rs1596001042 CA391103349 |
230 | T>P | No |
ClinGen Ensembl |
|
|
rs754272698 CA7364970 |
233 | V>A | No |
ClinGen ExAC TOPMed |
|
|
CA7364973 rs752200679 |
236 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7364972 rs764830770 |
236 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1256625423 CA391103455 |
238 | Y>C | No |
ClinGen gnomAD |
|
|
rs375546923 CA7364975 |
240 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7364976 rs369826418 |
241 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3689953 rs1469772640 CA391103496 |
241 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA391103504 rs1159339947 |
242 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7364977 rs756976706 |
244 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs781229023 CA7364978 |
244 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA267204013 rs1049343188 |
246 | P>L | No |
ClinGen TOPMed |
|
|
rs1403411541 CA391103548 |
246 | P>T | No |
ClinGen gnomAD |
|
|
CA7364979 rs560567167 |
247 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7364980 rs560567167 |
247 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761144714 CA7364985 |
249 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7364984 rs773286176 |
249 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378467886 CA391103608 |
251 | G>R | No |
ClinGen gnomAD |
|
|
CA7364986 rs551888141 |
252 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA267204098 rs900487687 |
253 | G>D | No |
ClinGen Ensembl |
|
|
rs1053803719 CA267204082 |
253 | G>S | No |
ClinGen Ensembl |
|
|
CA7364988 rs760137498 |
254 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs760137498 CA7364989 |
254 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1270549744 CA391103671 |
256 | G>A | No |
ClinGen gnomAD |
|
|
rs865787956 CA267204133 |
258 | A>V | No |
ClinGen Ensembl |
|
|
rs763853129 CA267204149 |
259 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7364992 rs763853129 |
259 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452629728 CA391103710 |
260 | S>T | No |
ClinGen gnomAD |
|
|
CA391103721 rs1378754793 |
261 | D>N | No |
ClinGen gnomAD |
|
|
rs757141410 CA7364995 |
262 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs750159828 CA7364996 |
262 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757141410 CA7364994 |
262 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs756077573 CA7364997 |
266 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1464841410 CA391103790 |
266 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA267204203 rs890991684 |
267 | S>G | No |
ClinGen Ensembl |
|
|
CA391103806 rs372778660 |
267 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA391103818 rs778126531 |
268 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778126531 CA7365001 |
268 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202234480 CA7365000 |
268 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377517086 CA7365002 COSM1230470 |
269 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA391103841 rs1268264682 |
270 | P>L | No |
ClinGen gnomAD |
|
|
rs1026682603 CA267204220 |
270 | P>T | No |
ClinGen Ensembl |
|
|
rs759937029 CA7365005 |
271 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7365004 rs776868185 |
271 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA391103860 rs1260198552 |
272 | K>E | No |
ClinGen gnomAD |
|
|
CA391103888 rs1467281832 |
273 | E>G | No |
ClinGen gnomAD |
|
|
rs1268079363 CA391103915 |
274 | A>V | No |
ClinGen gnomAD |
|
|
rs34277813 CA267204256 |
275 | V>G | No |
ClinGen Ensembl |
|
|
CA7365008 rs762588533 |
277 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1478340677 CA391103976 |
278 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs767129800 CA7365012 |
279 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA391104000 rs1425354966 |
279 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA391103997 rs1425354966 |
279 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs371063129 CA7365013 |
280 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596001151 CA391104040 |
281 | L>P | No |
ClinGen Ensembl |
|
|
rs978272575 CA267204335 |
284 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs978272575 CA391104090 |
284 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1330631462 CA391104108 |
285 | T>I | No |
ClinGen TOPMed |
|
|
CA7365016 rs753772153 |
287 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7365017 rs758567109 |
288 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1444703883 CA391104139 |
288 | P>S | No |
ClinGen gnomAD |
|
|
rs34161283 CA267204370 |
289 | G>S | No |
ClinGen Ensembl |
|
|
rs1372979325 CA391104162 |
290 | G>Q | No |
ClinGen TOPMed |
No associated diseases with Q96FX7
No regional properties for Q96FX7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96FX7 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.220 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| tRNA (m1A) methyltransferase complex | A protein complex involved in the catalysis of the formation of the modified nucleotide 1-methyladenosine (m1A) in tRNA. In yeast, it is a heterotetramer of two subunits, Gcd10p and Gcd14p, while in bacteria and archaea it is a homotetramer. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA (adenine-N1-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + adenine in mRNA = S-adenosyl-L-homocysteine + N(1)-methyladenine in mRNA. |
| tRNA (adenine-N1-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing N1-methyladenine. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA methylation | The posttranscriptional addition of methyl groups to specific residues in an mRNA molecule. |
| tRNA methylation | The posttranscriptional addition of methyl groups to specific residues in a tRNA molecule. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P46959 | GCD14 | tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRM61 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSFVAYEELI | KEGDTAILSL | GHGAMVAVRV | QRGAQTQTRH | GVLRHSVDLI | GRPFGSKVTC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GRGGWVYVLH | PTPELWTLNL | PHRTQILYST | DIALITMMLE | LRPGSVVCES | GTGSGSVSHA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IIRTIAPTGH | LHTVEFHQQR | AEKAREEFQE | HRVGRWVTVR | TQDVCRSGFG | VSHVADAVFL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DIPSPWEAVG | HAWDALKVEG | GRFCSFSPCI | EQVQRTCQAL | AARGFSELST | LEVLPQVYNV |
| 250 | 260 | 270 | 280 | ||
| RTVSLPPPDL | GTGTDGPAGS | DTSPFRSGTP | MKEAVGHTGY | LTFATKTPG |