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 F5H4B4

Entry ID Method Resolution Chain Position Source
AF-F5H4B4-F1 Predicted AlphaFoldDB

429 variants for F5H4B4

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1241323842
CA411563048
10 I>L No ClinGen
gnomAD
CA10234234
rs375734017
11 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411563008
rs1189922618
14 T>P No ClinGen
gnomAD
rs1253036470
CA411562980
16 P>S No ClinGen
gnomAD
CA411562952
rs1456103794
17 M>I No ClinGen
gnomAD
rs1046988095
CA324272458
17 M>V No ClinGen
TOPMed
gnomAD
rs1252671452
CA411562924
19 P>L No ClinGen
gnomAD
rs933043753
CA324272456
19 P>S No ClinGen
TOPMed
CA411562909
rs1204864339
20 V>A No ClinGen
TOPMed
gnomAD
rs945563765
CA324272451
20 V>L No ClinGen
TOPMed
gnomAD
rs1276262300
CA411562845
24 L>V No ClinGen
gnomAD
rs543499033
CA324272448
25 A>G No ClinGen
Ensembl
rs551380246
CA10234233
25 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs989570105
CA324272445
26 V>G No ClinGen
Ensembl
CA324272447
rs913986892
26 V>I No ClinGen
TOPMed
gnomAD
CA411562829
rs913986892
26 V>L No ClinGen
TOPMed
gnomAD
CA324272443
rs764118371
27 S>L No ClinGen
TOPMed
gnomAD
rs1300099745
CA411562806
29 V>A No ClinGen
gnomAD
CA411562809
rs1199570690
29 V>F No ClinGen
TOPMed
rs769478191
CA10234230
30 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs780662084
CA10234228
31 R>Q No ClinGen
ExAC
gnomAD
CA10234229
rs577824828
31 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs1009144019
CA324272434
33 T>A No ClinGen
TOPMed
gnomAD
CA411562760
rs1437273398
34 M>V No ClinGen
TOPMed
gnomAD
rs1252123630
CA411562744
35 V>L No ClinGen
gnomAD
rs1407130925
CA411562686
40 K>E No ClinGen
TOPMed
rs1348388443
CA411562678
40 K>N No ClinGen
gnomAD
rs1212788225
CA411562683
40 K>T No ClinGen
gnomAD
rs373618626
CA10234225
42 L>* No ClinGen
ESP
ExAC
gnomAD
CA411562598
rs1237938329
45 N>S No ClinGen
gnomAD
CA411562561
rs1392139145
47 P>H No ClinGen
gnomAD
CA411562566
rs1392139145
47 P>R No ClinGen
gnomAD
rs1309240424
CA411562570
47 P>S No ClinGen
TOPMed
gnomAD
rs773096450
CA10234213
49 C>W No ClinGen
ExAC
gnomAD
rs982512180
CA324271318
51 I>T No ClinGen
TOPMed
rs1437789304
CA411561769
52 G>D No ClinGen
gnomAD
TCGA novel 53 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411561757
rs1166573203
53 S>F No ClinGen
TOPMed
gnomAD
rs1422599783
CA411561748
54 M>T No ClinGen
gnomAD
CA411561754
rs1475330884
54 M>V No ClinGen
gnomAD
rs5995605
CA324271316
56 Q>H No ClinGen
Ensembl
rs373804892
CA324271311
57 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373804892
CA10234212
57 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1225243356
CA411561671
60 K>Q No ClinGen
gnomAD
CA411561651
rs1252563120
61 I>M No ClinGen
TOPMed
CA411561654
rs1569240278
61 I>T No ClinGen
Ensembl
CA324271308
rs1034726167
67 R>C No ClinGen
TOPMed
gnomAD
CA10234211
rs559200675
67 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411561585
rs1603071175
68 T>P No ClinGen
Ensembl
CA411561579
rs1409300253
68 T>S No ClinGen
TOPMed
CA411561572
rs1335769431
69 E>D No ClinGen
gnomAD
CA10234210
rs780905776
69 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs768176964
CA411561569
70 P>A No ClinGen
ExAC
gnomAD
rs1028041375
CA324271296
70 P>L No ClinGen
TOPMed
gnomAD
CA10234209
rs768176964
70 P>S No ClinGen
ExAC
gnomAD
rs779397566
CA411561565
71 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs779397566
CA10234207
71 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA324271289
rs201920502
71 S>P No ClinGen
TOPMed
CA324271291
rs201920502
71 S>T No ClinGen
TOPMed
CA411561559
rs1238204373
72 A>G No ClinGen
gnomAD
rs893826162
CA324271282
73 N>D No ClinGen
TOPMed
gnomAD
CA411561547
rs1331659421
74 S>N No ClinGen
TOPMed
gnomAD
CA411560487
rs1432733680
76 A>T No ClinGen
gnomAD
CA411560470
rs1174231381
77 I>T No ClinGen
gnomAD
CA10234200
rs371485099
77 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324267995
rs1025945022
78 E>D No ClinGen
TOPMed
gnomAD
rs1454764502
CA411560448
78 E>G No ClinGen
gnomAD
CA411560415
rs1179835711
79 R>T No ClinGen
gnomAD
CA324267989
rs943147174
80 F>L No ClinGen
TOPMed
CA10234199
rs563222768
82 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs993857554
CA324267982
84 K>T No ClinGen
TOPMed
CA411560286
rs1251626056
85 K>E No ClinGen
gnomAD
CA411560280
rs1200215239
85 K>T No ClinGen
gnomAD
CA411560265
rs1283081056
86 A>G No ClinGen
gnomAD
CA324267980
rs911513916
86 A>S No ClinGen
Ensembl
CA411560208
rs1569233467
90 K>* No ClinGen
Ensembl
CA411560197
rs1443874599
90 K>N No ClinGen
gnomAD
rs1316433672
CA411560206
90 K>R No ClinGen
TOPMed
rs375987546
CA10234196
92 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs192591482
CA10234195
92 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs192591482
CA411560181
92 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369604027
CA324267965
93 S>R No ClinGen
Ensembl
rs1412671154
CA411560154
95 P>A No ClinGen
gnomAD
CA10234194
rs765096680
96 E>G No ClinGen
ExAC
gnomAD
CA411560139
rs765096680
96 E>V No ClinGen
ExAC
gnomAD
rs761667568
CA10234193
98 K>N No ClinGen
ExAC
gnomAD
rs897579242
CA324267464
100 K>R No ClinGen
TOPMed
gnomAD
CA411560016
rs1384689186
101 R>* No ClinGen
TOPMed
rs373922997
CA10234178
103 R>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411559930
rs1447068479
106 Q>* No ClinGen
gnomAD
rs1447068479
CA411559932
106 Q>E No ClinGen
gnomAD
CA411559846
rs1336517986
111 G>A No ClinGen
gnomAD
rs1336517986
CA411559845
111 G>V No ClinGen
gnomAD
rs16999173
CA10234174
113 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411559797
rs1431405895
115 R>G No ClinGen
gnomAD
CA411559679
rs1327031064
122 I>V No ClinGen
gnomAD
CA10234172
rs776588220
123 K>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 125 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1438767668
CA411558935
127 A>P No ClinGen
gnomAD
CA324266641
rs761503797
128 D>H No ClinGen
Ensembl
rs1373375909
CA411558868
130 N>K No ClinGen
TOPMed
gnomAD
CA324266639
rs534737817
135 L>P No ClinGen
1000Genomes
gnomAD
CA411558775
rs1441771695
135 L>V No ClinGen
gnomAD
rs1013316695
CA324266635
136 Y>* No ClinGen
Ensembl
rs1569230460
CA411558755
136 Y>H No ClinGen
Ensembl
CA324266631
rs960009633
137 Q>H No ClinGen
Ensembl
CA411558728
rs1286019742
138 Y>H No ClinGen
Ensembl
rs1241886972
CA411558691
139 S>P No ClinGen
Ensembl
rs781690453
CA10234163
140 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1160482470
CA411558630
141 F>L No ClinGen
TOPMed
CA411558485
rs1428689483
147 N>S No ClinGen
TOPMed
rs1253095827
CA411558438
149 L>F No ClinGen
gnomAD
rs370979052
CA10234162
150 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324266618
rs776397576
153 V>G No ClinGen
Ensembl
rs1204931038
CA411558353
153 V>M No ClinGen
gnomAD
CA411558302
rs1346935457
155 F>L No ClinGen
gnomAD
CA411558299
rs1278096402
156 C>R No ClinGen
gnomAD
CA10234160
rs780309203
158 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA411558248
rs1236482077
158 M>K No ClinGen
gnomAD
CA411558251
rs1236482077
158 M>T No ClinGen
gnomAD
rs1268583153
CA411558256
158 M>V No ClinGen
TOPMed
gnomAD
CA411558237
rs1302081377
159 V>L No ClinGen
gnomAD
rs750555658
CA10234158
160 G>R No ClinGen
ExAC
gnomAD
rs1443377353
CA411558211
161 N>S No ClinGen
gnomAD
CA10234156
rs141840885
162 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs892040515
CA411558166
164 R>G No ClinGen
TOPMed
gnomAD
CA411558161
rs1395119559
164 R>Q No ClinGen
gnomAD
rs892040515
CA324266596
164 R>W No ClinGen
TOPMed
gnomAD
CA411558115
rs1224874349
168 D>H No ClinGen
TOPMed
CA10234155
rs542852910
170 L>F No ClinGen
ExAC
gnomAD
rs542852910
CA411558086
170 L>I No ClinGen
ExAC
gnomAD
CA411555715
rs1360499866
178 G>V No ClinGen
gnomAD
CA324263040
rs377594597
182 E>K No ClinGen
ESP
TOPMed
CA411555514
rs1475443744
185 L>V No ClinGen
TOPMed
gnomAD
rs1317238389
CA411555469
186 S>P No ClinGen
gnomAD
rs547745287
CA324263032
187 S>P No ClinGen
1000Genomes
CA411555368
rs1220435130
189 S>P No ClinGen
TOPMed
gnomAD
CA411555356
rs1569223436
189 S>Y No ClinGen
Ensembl
CA10234137
rs201706431
190 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs201706431
CA324263024
190 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA411555335
rs1328651369
191 R>I No ClinGen
gnomAD
rs1424872528
CA639239903
191 R>S No ClinGen
gnomAD
rs989007924
CA324263018
193 I>V No ClinGen
TOPMed
gnomAD
rs1161124476
CA639239899
194 W>C No ClinGen
gnomAD
CA411555180
rs1178842052
196 D>E No ClinGen
gnomAD
TCGA novel 196 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411555169
rs1479642347
197 S>G No ClinGen
TOPMed
gnomAD
CA411555151
rs1221431526
197 S>R No ClinGen
TOPMed
rs1235500732
CA411555109
198 F>L No ClinGen
TOPMed
gnomAD
rs1222106129
CA411555086
199 W>G No ClinGen
gnomAD
rs1341504326
CA411554962
203 H>N No ClinGen
gnomAD
rs767514840
CA324263016
203 H>R No ClinGen
TOPMed
rs866889460
CA324263013
204 E>D No ClinGen
Ensembl
CA324263010
rs957423994
205 R>G No ClinGen
TOPMed
gnomAD
rs1381026419
CA411554822
206 Y>* No ClinGen
TOPMed
gnomAD
CA10234135
rs568074741
207 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777640180
CA10234130
210 K>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1368241782
CA411554589
211 E>D No ClinGen
TOPMed
gnomAD
CA411554605
rs1439510034
211 E>K No ClinGen
gnomAD
CA411554586
rs1327426523
212 L>F No ClinGen
TOPMed
gnomAD
rs1465971689
CA411554536
214 N>T No ClinGen
TOPMed
rs756048065
CA10234129
216 L>M No ClinGen
ExAC
gnomAD
CA411554466
rs1300834987
217 F>S No ClinGen
gnomAD
rs1390688819
CA411554412
219 R>Q No ClinGen
TOPMed
gnomAD
CA10234128
rs373043879
219 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411554396
rs1348436145
220 I>M No ClinGen
TOPMed
rs767441909
CA10234127
221 A>T No ClinGen
ExAC
gnomAD
rs911891985
CA324262885
221 A>V No ClinGen
Ensembl
CA411554378
rs1453866965
222 Q>R No ClinGen
TOPMed
gnomAD
rs904391338
CA324262882
223 H>Q No ClinGen
TOPMed
CA411554331
rs1251221711
224 Y>C No ClinGen
gnomAD
TCGA novel 224 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA324262880
rs1041940874
225 A>V No ClinGen
TOPMed
CA411554262
rs1361663502
228 L>* No ClinGen
TOPMed
gnomAD
CA411554259
rs1361663502
228 L>W No ClinGen
TOPMed
gnomAD
rs1452427974
CA411554214
230 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs751731557
CA324262877
230 R>H No ClinGen
TOPMed
gnomAD
CA324262875
rs751731557
230 R>P No ClinGen
TOPMed
gnomAD
CA411554190
rs1194400585
231 V>A No ClinGen
gnomAD
CA411554173
rs1275976588
232 P>H No ClinGen
gnomAD
rs1275976588
CA411554167
232 P>L No ClinGen
gnomAD
CA411554135
rs1603010042
234 S>P No ClinGen
Ensembl
CA324262873
rs1040748512
236 S>Y No ClinGen
TOPMed
TCGA novel 237 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1433157213
CA411554010
239 A>V No ClinGen
TOPMed
CA411553990
rs1603009907
241 L>* No ClinGen
Ensembl
rs1488299921
CA411553975
242 K>R No ClinGen
TOPMed
gnomAD
rs1603000620
CA411553315
243 R>K No ClinGen
Ensembl
rs1445850864
CA411553305
244 L>V No ClinGen
gnomAD
CA411553282
rs1444633812
245 P>L No ClinGen
TOPMed
CA411553247
rs1206475582
247 L>P No ClinGen
gnomAD
TCGA novel 248 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA324262284
rs369607374
249 S>I No ClinGen
TOPMed
gnomAD
rs1272194081
CA411553178
251 A>T No ClinGen
TOPMed
gnomAD
rs1284645353
CA411553145
252 V>G No ClinGen
TOPMed
gnomAD
CA411553147
CA411553149
rs199943796
252 V>L No ClinGen
TOPMed
gnomAD
CA324262282
rs199943796
252 V>M No ClinGen
TOPMed
gnomAD
CA411553106
rs1325884426
254 T>N No ClinGen
gnomAD
CA411553077
rs1458924321
255 S>T No ClinGen
gnomAD
CA411553063
rs1389630809
256 F>I No ClinGen
gnomAD
CA324262278
rs967754137
261 P>L No ClinGen
TOPMed
CA411552919
rs1164555321
262 Q>* No ClinGen
TOPMed
gnomAD
rs1448534574
CA411552912
262 Q>R No ClinGen
TOPMed
CA324262276
rs914859692
263 S>P No ClinGen
TOPMed
CA10234108
rs572488612
266 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1164284849
CA411552777
267 T>A No ClinGen
gnomAD
CA10234107
rs766010171
267 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA324262271
rs766010171
267 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs911077117
CA324262269
268 H>Q No ClinGen
TOPMed
gnomAD
rs376632432
CA324262266
269 E>K No ClinGen
ESP
TOPMed
gnomAD
CA324262263
rs953632986
271 K>N No ClinGen
TOPMed
gnomAD
CA411552699
rs1569219751
271 K>Q No ClinGen
Ensembl
CA411552621
rs1453967260
274 I>V No ClinGen
TOPMed
CA324262262
rs1029264476
275 C>R No ClinGen
TOPMed
rs1211506702
CA411552570
276 N>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs554466121
CA10234106
278 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA411552508
rs1167184889
278 M>K No ClinGen
TOPMed
CA324262261
rs969551506
278 M>V No ClinGen
TOPMed
gnomAD
CA411552446
rs1484900330
280 L>V No ClinGen
TOPMed
gnomAD
rs1337337029
CA411552427
281 W>R No ClinGen
gnomAD
CA411552399
rs1271908502
282 I>V No ClinGen
gnomAD
CA324261401
rs1009468264
285 T>I No ClinGen
TOPMed
gnomAD
CA411551260
rs1314076033
286 Y>C No ClinGen
gnomAD
CA411551208
rs1302235517
288 S>I No ClinGen
TOPMed
gnomAD
CA411551149
rs1223431584
291 S>N No ClinGen
gnomAD
rs1348968042
CA411551144
291 S>R No ClinGen
gnomAD
rs1290636892
CA411551105
293 D>G No ClinGen
TOPMed
gnomAD
rs138823795
CA324261399
294 S>I No ClinGen
1000Genomes
TOPMed
gnomAD
rs138823795
CA411551074
294 S>N No ClinGen
1000Genomes
TOPMed
gnomAD
CA324261397
rs199801910
295 W>* No ClinGen
Ensembl
CA324261395
rs888422064
298 S>L No ClinGen
TOPMed
gnomAD
rs201824717
CA324261388
304 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201824717
CA10234086
304 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA324261386
rs145035180
304 R>Q No ClinGen
1000Genomes
TOPMed
gnomAD
CA324261385
rs1045969915
305 F>L No ClinGen
TOPMed
rs559284041
CA10234085
306 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1413850859
CA411550716
306 R>H No ClinGen
TOPMed
gnomAD
CA324261382
rs781571163
307 R>K No ClinGen
Ensembl
CA324261379
rs899677743
308 E>* No ClinGen
Ensembl
rs1182591507
CA411550679
308 E>G No ClinGen
gnomAD
CA411550657
rs1322231373
310 L>V No ClinGen
TOPMed
CA411550628
rs1315117544
312 L>M No ClinGen
gnomAD
rs753343555
CA324261376
313 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs1474785388
CA411550609
313 Y>C No ClinGen
gnomAD
CA324261372
rs1039394443
314 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA411550490
rs1242133214
315 R>G No ClinGen
TOPMed
rs1215286113
CA411550476
316 R>K No ClinGen
TOPMed
gnomAD
CA411550453
rs1270309990
318 T>I No ClinGen
gnomAD
rs1250130591
CA411578968
320 G>E No ClinGen
gnomAD
rs1569213968
CA411578925
324 S>F No ClinGen
Ensembl
rs1018971362
CA324270008
326 F>L No ClinGen
TOPMed
gnomAD
rs1009333840
CA324270005
327 A>S No ClinGen
TOPMed
rs192740455
CA10234074
328 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1322815217
CA411578857
330 R>G No ClinGen
gnomAD
CA411578842
rs1295559581
331 A>T No ClinGen
gnomAD
rs1486094004
CA411578806
333 S>C No ClinGen
TOPMed
rs1028758884
CA324269997
336 P>T No ClinGen
TOPMed
gnomAD
CA324269988
rs901517064
337 A>G No ClinGen
gnomAD
CA324269993
rs762049164
337 A>P No ClinGen
ExAC
gnomAD
CA10234073
rs762049164
337 A>S No ClinGen
ExAC
gnomAD
CA411578733
rs1569213871
338 Q>R No ClinGen
Ensembl
rs1439723074
CA411578718
339 S>N No ClinGen
gnomAD
CA324269985
rs1037013156
341 K>R No ClinGen
Ensembl
rs940960938
CA324269982
343 Y>C No ClinGen
TOPMed
gnomAD
rs537875615
CA324269978
344 H>N No ClinGen
1000Genomes
TOPMed
rs537875615
CA411578642
344 H>Y No ClinGen
1000Genomes
TOPMed
rs1458266736
CA411578622
345 P>S No ClinGen
gnomAD
CA411575243
rs1350488237
347 S>F No ClinGen
TOPMed
CA411575222
rs1209514784
349 S>N No ClinGen
TOPMed
gnomAD
CA324265088
rs958197523
350 A>T No ClinGen
TOPMed
gnomAD
CA411575201
rs1276189333
351 N>D No ClinGen
gnomAD
CA324265086
rs945756449
351 N>S No ClinGen
Ensembl
CA411575170
rs1233539131
353 P>L No ClinGen
gnomAD
CA10234055
rs756926473
354 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA411575154
rs1342389859
354 S>R No ClinGen
Ensembl
rs1031704906
CA324265085
356 K>N No ClinGen
TOPMed
gnomAD
rs1292636444
CA411575112
357 T>N No ClinGen
TOPMed
rs1411473376
CA411575098
358 S>F No ClinGen
gnomAD
CA10234054
rs556861809
359 S>L No ClinGen
1000Genomes
ExAC
gnomAD
rs954900753
CA324265078
360 A>S No ClinGen
TOPMed
CA411575066
rs1413972787
361 K>R No ClinGen
gnomAD
CA10234053
rs527406691
362 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
CA411575052
rs1174473873
362 Q>P No ClinGen
gnomAD
CA411575053
rs1174473873
362 Q>R No ClinGen
gnomAD
CA411575036
rs1466761832
363 N>S No ClinGen
gnomAD
CA324265072
rs1030351758
366 K>E No ClinGen
TOPMed
gnomAD
rs762100398
CA10234052
367 S>N No ClinGen
ExAC
gnomAD
CA411574437
rs1253165692
369 R>* No ClinGen
TOPMed
gnomAD
CA10234050
rs73157156
369 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1257195299
CA411574404
370 M>I No ClinGen
TOPMed
rs1280156196
CA411574378
371 Q>H No ClinGen
gnomAD
rs1440139998
CA411574392
371 Q>K No ClinGen
gnomAD
CA411574349
rs1474522957
372 N>S No ClinGen
TOPMed
rs1226492653
CA411573640
376 E>D No ClinGen
gnomAD
rs1046052271
CA411573643
376 E>G No ClinGen
gnomAD
rs1046052271
CA324264440
376 E>V No ClinGen
gnomAD
TCGA novel 377 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1358337434
CA411573613
378 H>R No ClinGen
gnomAD
rs975983941
CA324264438
379 C>R No ClinGen
TOPMed
rs1246451214
CA411573566
381 T>N No ClinGen
TOPMed
rs1364559892
CA411573547
383 V>F No ClinGen
gnomAD
CA10234045
rs778658836
385 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1389792807
CA411573518
385 K>R No ClinGen
gnomAD
rs1416572118
CA411573485
387 P>R No ClinGen
gnomAD
CA411573490
rs1404003309
387 P>S No ClinGen
TOPMed
gnomAD
CA324264426
rs1025267794
388 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1261617085
CA411573481
388 T>P No ClinGen
TOPMed
rs1430380551
CA411573454
390 E>K No ClinGen
gnomAD
rs1448282292
CA411573434
391 V>F No ClinGen
gnomAD
CA10234043
rs748971640
392 K>E No ClinGen
ExAC
gnomAD
CA411573396
rs560936960
394 I>L No ClinGen
TOPMed
gnomAD
rs560936960
CA324264413
394 I>V No ClinGen
TOPMed
gnomAD
CA411573362
rs1245808000
396 E>D No ClinGen
gnomAD
rs951895908
CA324264410
398 R>K No ClinGen
TOPMed
gnomAD
TCGA novel 398 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1453182582
CA411573297
400 C>W No ClinGen
gnomAD
rs1009717984
CA411573293
401 E>* No ClinGen
TOPMed
gnomAD
rs1009717984
CA324264405
401 E>K No ClinGen
TOPMed
gnomAD
rs1009717984
CA411573292
401 E>Q No ClinGen
TOPMed
gnomAD
rs1362396393
CA411573258
402 N>T No ClinGen
TOPMed
rs1027369106
CA324264402
403 M>R No ClinGen
TOPMed
rs752133669
CA10234037
408 S>L No ClinGen
ExAC
gnomAD
CA411572137
rs1207367946
410 A>T No ClinGen
gnomAD
CA411572088
rs1308221753
411 A>T No ClinGen
gnomAD
TCGA novel 414 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411571904
rs1370119583
418 T>P No ClinGen
gnomAD
CA324262852
rs959416493
420 N>D No ClinGen
TOPMed
gnomAD
rs1032087731
CA324262850
420 N>K No ClinGen
TOPMed
gnomAD
rs1310448178
CA411571828
423 N>D No ClinGen
gnomAD
CA411571819
rs1429756977
423 N>T No ClinGen
gnomAD
CA411571757
rs1415855374
424 I>M No ClinGen
TOPMed
gnomAD
CA411571794
rs1173463555
424 I>V No ClinGen
gnomAD
CA411571596
rs1425480855
429 P>R No ClinGen
gnomAD
CA324262845
rs199568591
431 I>T No ClinGen
Ensembl
CA324262844
rs780436534
432 V>L No ClinGen
TOPMed
gnomAD
CA411571401
rs1182815420
435 L>V No ClinGen
gnomAD
rs1042549911
CA324262840
436 Q>* No ClinGen
TOPMed
TCGA novel 442 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411571137
rs1422006279
444 H>R No ClinGen
TOPMed
rs1208232173
CA411571113
445 G>S No ClinGen
gnomAD
CA411571033
rs1164011878
448 V>G No ClinGen
TOPMed
rs1415425455
CA411570959
452 R>K No ClinGen
TOPMed
rs1228148923
CA411570930
453 R>S No ClinGen
gnomAD
rs1327605342
CA411570898
455 K>E No ClinGen
TOPMed
gnomAD
CA324262832
rs764401267
457 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs764401267
CA10234029
457 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA10234028
rs760878269
458 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA411570414
rs1315004173
462 C>R No ClinGen
Ensembl
CA411570405
rs1215350683
462 C>S No ClinGen
gnomAD
rs1341791420
CA411570373
464 P>S No ClinGen
gnomAD
rs1188122966
CA411570359
465 T>A No ClinGen
gnomAD
CA411570353
rs1447856978
465 T>K No ClinGen
TOPMed
gnomAD
rs1447856978
CA411570348
COSM1034159
465 T>M endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA411570336
rs1206080169
466 Y>C No ClinGen
gnomAD
rs1011743501
CA324262293
468 D>E No ClinGen
TOPMed
gnomAD
CA411570310
rs1227675317
468 D>N No ClinGen
gnomAD
rs1602871764
CA411570264
469 V>D No ClinGen
Ensembl
rs1339212399
CA411570255
470 I>F No ClinGen
TOPMed
gnomAD
CA411570226
rs1224444447
471 S>I No ClinGen
TOPMed
gnomAD
rs960717290
CA324262292
473 T>N No ClinGen
Ensembl
rs1158904895
CA411570160
474 L>P No ClinGen
TOPMed
rs923752308
CA324262290
475 C>* No ClinGen
Ensembl
rs1008867846
CA324262288
476 S>G No ClinGen
TOPMed
gnomAD
rs1225594328
COSM3708255
CA411570095
477 M>T liver [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1366889642
CA411570078
478 K>T No ClinGen
TOPMed
gnomAD
CA10234007
rs201369993
480 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10234008
rs565247823
480 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411570040
rs1388313778
481 K>E No ClinGen
gnomAD
rs1306716407
CA411569987
482 D>G No ClinGen
TOPMed
rs1295169328
CA411569974
483 N>D No ClinGen
TOPMed
gnomAD
CA411569937
rs1241688027
484 L>P No ClinGen
TOPMed
CA10234006
rs751226372
485 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs766290056
CA10234005
490 H>L No ClinGen
ExAC
gnomAD
rs540565036
CA411569744
491 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs985651617
CA324262285
491 H>R No ClinGen
Ensembl
rs1427975375
CA411569722
492 W>C No ClinGen
gnomAD
CA10234003
rs772959416
495 W>C No ClinGen
ExAC
gnomAD
rs766041253
CA324262279
496 N>Y No ClinGen
Ensembl
rs998405543
CA324262277
498 F>S No ClinGen
gnomAD
CA10234001
rs747775978
498 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1274608727
CA411569627
499 D>G No ClinGen
TOPMed
gnomAD
rs907813588
CA324262273
504 E>* No ClinGen
TOPMed
CA324262272
rs983399353
504 E>V No ClinGen
TOPMed
CA411569532
rs1343761103
506 Q>R No ClinGen
gnomAD
rs776302247
CA10234000
509 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs746509479
CA10233999
510 S>C No ClinGen
ExAC
gnomAD
CA10233998
rs746509479
510 S>F No ClinGen
ExAC
gnomAD
CA10233997
rs779632445
511 R>M No ClinGen
ExAC
gnomAD
CA10233985
rs762852377
512 E>K No ClinGen
ExAC
gnomAD
CA324261183
rs866192045
513 M>I No ClinGen
Ensembl
CA411567155
rs1478992035
514 K>Q No ClinGen
TOPMed
CA10233984
rs750309017
514 K>R No ClinGen
ExAC
gnomAD
rs1364930930
CA411567130
515 N>S No ClinGen
gnomAD
rs78539182
CA324261178
518 P>T No ClinGen
TOPMed
gnomAD
rs1440264133
CA411567064
520 A>T No ClinGen
gnomAD
CA324261174
rs79198494
520 A>V No ClinGen
TOPMed
gnomAD
rs527799253
CA10233983
521 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411567038
rs1392698325
522 D>A No ClinGen
TOPMed
rs761598593
CA10233982
522 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs761598593
CA411567045
522 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs768354571
CA10233980
525 K>N No ClinGen
ExAC
gnomAD
CA10233981
rs776208813
525 K>R No ClinGen
ExAC
gnomAD
rs1439300100
CA411566961
528 H>R No ClinGen
TOPMed
CA324261169
rs1044111569
529 M>I No ClinGen
gnomAD
CA411566941
rs1338779600
529 M>T No ClinGen
gnomAD
rs1338878047
CA411566915
530 F>L No ClinGen
gnomAD
rs1423159688
CA411566886
533 P>S No ClinGen
gnomAD
rs566926748
CA324261166
535 A>V No ClinGen
1000Genomes
gnomAD
rs1402867205
CA411566851
536 V>I No ClinGen
TOPMed
gnomAD
CA411566791
rs1361800745
540 S>A No ClinGen
TOPMed
rs1163198597
CA411566771
541 P>L No ClinGen
gnomAD
rs942681042
CA324261163
543 K>E No ClinGen
TOPMed
gnomAD
rs778277326
CA411566735
CA10233974
543 K>N No ClinGen
ExAC
gnomAD
rs192340146
CA10233975
543 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs375988251
CA324261159
546 K>E No ClinGen
ESP
TOPMed
rs1347069425
CA411564929
548 G>W No ClinGen
gnomAD
CA324259930
rs936296330
550 G>R No ClinGen
Ensembl
rs926092686
CA324259928
552 E>K No ClinGen
Ensembl
rs761584517
CA10233959
553 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA411564828
rs1434819894
554 K>R No ClinGen
gnomAD
CA324259922
rs940722547
558 T>A No ClinGen
TOPMed
CA411564751
rs1304346614
COSM1190452
558 T>R lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA10233957
rs371740615
560 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411564717
rs371740615
560 V>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411564722
rs1456916928
560 V>I No ClinGen
gnomAD
rs777984150
CA324259917
561 E>D No ClinGen
Ensembl
CA411564670
rs1205746619
563 F>I No ClinGen
TOPMed
rs367767273
CA324259915
563 F>L No ClinGen
Ensembl
rs992382367
CA324259909
567 T>I No ClinGen
TOPMed
gnomAD

No associated diseases with F5H4B4

No regional properties for F5H4B4

Type Name Position InterPro Accession
No domain, repeats, and functional sites for F5H4B4

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q96M60 FAM227B Protein FAM227B Homo sapiens (Human) PR
10 20 30 40 50 60
MNHFRKMEVI NLTTLPMIPV DEHLAVSLVA RNTMVKTVRK ELENNPPSCL IGSMHQVNQK
70 80 90 100 110 120
IADINLRTEP SANSLAIERF ELEKKALREK TRSSPEDKVK RQRKSQYSCK GSELRHARSS
130 140 150 160 170 180
VIKRKTADKN LLAELYQYSN FNSSKPNKLP NGVDFCDMVG NVVRAERDCL SGKHFCSGRE
190 200 210 220 230 240
LEKFLSSSSP RAIWLDSFWW IFHERYQPNK ELQNNLFDRI AQHYALLLFR VPKSHSEEAL
250 260 270 280 290 300
LKRLPSLLSK AVYTSFCCCF PQSWFDTHEF KSDICNTMSL WISGTYPSPQ SYDSWDYSEL
310 320 330 340 350 360
DPERFRREEL MLYRRRLTKG REFSLFAGKR AFSQKPAQSR KFYHPQSSSA NSPSEKTSSA
370 380 390 400 410 420
KQNSEKSLRM QNTAKEHHCQ TLVLKKPTQE VKRISEAREC ENMFPKKSCA ACKSPELTSN
430 440 450 460 470 480
LFNIYGKSPL IVYFLQNYAS LQQHGKNVLI VRREKTTSTP DCTPTYTDVI SETLCSMKKR
490 500 510 520 530 540
KDNLNQLYQH HWTEWNYFDK HLKELQDNFS REMKNIDPKA ADTKKANHMF IPPSAVNEES
550 560
PDKKTKEGKG GEGKRRETEV EHFFPLTSKP