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
  • Nucleus
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