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 Q6FHJ7

Entry ID Method Resolution Chain Position Source
AF-Q6FHJ7-F1 Predicted AlphaFoldDB

351 variants for Q6FHJ7

Variant ID(s) Position Change Description Diseaes Association Provenance
CA4222939
rs758308395
RCV001271112
54 A>D Pyle metaphyseal dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001271113
CA367220408
rs1344808304
125 C>S Pyle metaphyseal dysplasia [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs879253778
RCV000234974
161 V>missing Pyle metaphyseal dysplasia [ClinVar] Yes ClinVar
dbSNP
rs879255603
RCV000234979
167 D>missing Pyle metaphyseal dysplasia [ClinVar] Yes ClinVar
dbSNP
CA4222757
RCV000234991
rs755007671
232 R>* Pyle metaphyseal dysplasia Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
dbSNP
CA4222987
rs746008646
2 F>C No ClinGen
ExAC
gnomAD
rs143943716
CA4222988
2 F>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367221402
rs200498112
3 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA4222985
rs200498112
3 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs968890170
CA157155019
4 S>F No ClinGen
TOPMed
gnomAD
rs1429283335
CA367221396
4 S>T No ClinGen
gnomAD
CA4222984
rs747377478
5 I>L No ClinGen
ExAC
CA4222983
COSM746974
rs778293050
5 I>N lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA157154995
rs981529571
6 L>V No ClinGen
TOPMed
rs1376302743
CA367221348
7 V>A No ClinGen
TOPMed
CA4222979
rs572680887
8 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs149474737
CA4222980
8 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149474737
CA4222981
8 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367221339
rs572680887
8 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4222976
rs757039656
9 L>R No ClinGen
ExAC
gnomAD
rs751326708
CA4222975
10 C>F No ClinGen
ExAC
TOPMed
gnomAD
rs762924097
CA4222973
12 W>C No ClinGen
ExAC
gnomAD
rs1226204385
CA367221302
12 W>S No ClinGen
TOPMed
rs752828075
CA4222972
13 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA367221278
rs1225837945
14 H>D No ClinGen
gnomAD
CA4222970
rs369808742
16 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367221256
rs369808742
16 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760978297
CA4222967
18 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs994051636
CA157154928
20 R>H No ClinGen
TOPMed
CA367221213
rs1372900624
20 R>S No ClinGen
TOPMed
gnomAD
CA4222965
rs772584311
21 G>A No ClinGen
ExAC
gnomAD
CA4222963
rs769250207
22 A>E No ClinGen
ExAC
gnomAD
rs769250207
CA4222962
22 A>V Variant assessed as Somatic; 4.7e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA367221186
rs1478763521
23 P>A No ClinGen
gnomAD
CA367221179
rs1244442122
23 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs780735559
CA4222959
24 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA4222958
rs756881667
25 E>* No ClinGen
ExAC
gnomAD
CA367221146
rs1406922555
26 A>G No ClinGen
TOPMed
CA4222957
rs751323190
27 V>G No ClinGen
ExAC
gnomAD
TCGA novel 27 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1450598
rs555863176
CA367221124
28 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs555863176
CA4222956
28 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1401111950
CA367221130
28 R>S No ClinGen
TOPMed
rs139103759
CA4222954
29 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1312883273
CA367221102
30 P>R No ClinGen
TOPMed
CA4222953
rs765243688
31 M>T No ClinGen
ExAC
gnomAD
CA367221067
rs759575847
33 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA367221063
rs1278633805
33 R>P No ClinGen
TOPMed
rs759575847
CA4222952
33 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA367221057
rs1410475769
34 H>L No ClinGen
gnomAD
TCGA novel 34 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 35 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367221051
rs760896287
35 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs760896287
CA4222949
35 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs142701985
CA4222947
36 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142701985
CA4222948
36 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA157154881
rs747919425
37 W>R No ClinGen
Ensembl
rs1050503407
CA157154879
39 I>M No ClinGen
TOPMed
CA367220975
rs1176387719
40 T>M No ClinGen
gnomAD
rs1415798667
CA367220969
41 R>Q No ClinGen
gnomAD
rs933340448
CA157154877
42 M>I No ClinGen
Ensembl
rs1583656721
CA367220947
43 P>R No ClinGen
Ensembl
CA4222946
rs762156391
44 N>S No ClinGen
ExAC
gnomAD
TCGA novel 44 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1175123689
CA367220936
45 H>Y No ClinGen
gnomAD
rs769162073
CA4222944
47 H>Y No ClinGen
ExAC
gnomAD
CA4222943
rs377374272
48 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367220899
rs1041957078
50 T>M No ClinGen
gnomAD
CA157154847
rs1041957078
50 T>R No ClinGen
gnomAD
CA4222941
rs770492825
51 Q>H No ClinGen
ExAC
gnomAD
CA4222942
rs776146633
51 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1262676862
CA367220888
52 E>G No ClinGen
gnomAD
CA4222938
rs758308395
54 A>V No ClinGen
ExAC
gnomAD
rs778737132
CA4222936
57 A>D No ClinGen
ExAC
gnomAD
rs1304983545
CA367220849
58 I>M No ClinGen
TOPMed
gnomAD
CA4222934
CA367220843
rs753865207
59 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA4222935
rs754903385
59 E>K No ClinGen
ExAC
gnomAD
CA4222930
rs766508176
60 Q>* No ClinGen
ExAC
gnomAD
CA4222932
rs750706822
60 Q>H No ClinGen
ExAC
gnomAD
CA4222933
rs766422223
60 Q>R No ClinGen
ExAC
gnomAD
rs1583656658
CA367220832
61 Y>C No ClinGen
Ensembl
CA367220827
rs946302056
62 E>K No ClinGen
gnomAD
rs946302056
CA157154801
62 E>Q No ClinGen
gnomAD
rs767690874
CA4222929
65 V>A No ClinGen
ExAC
gnomAD
rs373224073
CA367220796
66 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1414396947
CA367220803
66 D>N No ClinGen
gnomAD
rs1242830697
CA367220792
67 V>E No ClinGen
gnomAD
CA367220793
rs1482121931
67 V>L No ClinGen
TOPMed
gnomAD
CA367220795
rs1482121931
67 V>M No ClinGen
TOPMed
gnomAD
CA4222926
rs141728432
69 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367220781
rs141728432
69 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs571165714
CA4222925
69 C>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1238358289
CA367220766
71 A>P No ClinGen
gnomAD
CA367220767
rs1238358289
71 A>T No ClinGen
gnomAD
CA157154782
rs367982958
71 A>V No ClinGen
Ensembl
rs1226976707
CA367220758
72 V>A No ClinGen
gnomAD
rs770542595
CA4222923
72 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs746487383
CA4222922
73 L>R No ClinGen
ExAC
gnomAD
rs773048077
CA4222921
74 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771800349
COSM1240164
CA4222920
74 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4222916
rs778897623
80 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA367220710
rs1166818773
80 M>T No ClinGen
gnomAD
CA157154756
rs778897623
80 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA4222915
rs779848423
81 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 81 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756223201
CA157154745
82 A>P No ClinGen
ExAC
gnomAD
rs756223201
CA4222914
82 A>T No ClinGen
ExAC
gnomAD
COSM346898
rs1562852039
CA367220697
82 A>V lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1246378644
CA367220676
85 C>F No ClinGen
gnomAD
rs1246378644
CA367220677
85 C>Y No ClinGen
gnomAD
CA157154716
rs971060232
86 T>I No ClinGen
Ensembl
rs1267814222
CA367220637
91 H>L No ClinGen
gnomAD
rs1488814149
CA367220640
91 H>Y No ClinGen
gnomAD
CA367220630
rs1583656582
92 D>A No ClinGen
Ensembl
TCGA novel 92 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367220602
rs1219996012
96 P>Q No ClinGen
gnomAD
rs763224100
CA4222908
97 C>Y No ClinGen
ExAC
gnomAD
CA367220591
rs1583656579
98 K>E No ClinGen
Ensembl
CA4222907
rs753289011
99 S>* No ClinGen
ExAC
gnomAD
CA4222906
rs765640507
COSM421459
100 V>L Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 103 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1021785125
CA157154698
103 R>S No ClinGen
TOPMed
gnomAD
CA4222904
rs201127378
104 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3431583
CA367220546
rs1583656567
105 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs773860267
CA4222901
106 D>G No ClinGen
ExAC
gnomAD
rs768560715
CA4222900
108 C>* No ClinGen
ExAC
gnomAD
rs780084181
CA4222899
109 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs780084181
CA4222898
109 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA367220506
rs1192727541
111 L>F No ClinGen
gnomAD
CA157154678
rs1016795843
111 L>R No ClinGen
Ensembl
rs1190026429
CA367220501
112 M>L No ClinGen
gnomAD
rs1190026429
CA367220503
112 M>V No ClinGen
gnomAD
rs1474139768
CA367220490
113 K>R No ClinGen
TOPMed
rs1166740874
CA367220480
114 M>I No ClinGen
TOPMed
rs375379770
CA4222896
115 Y>C No ClinGen
ESP
ExAC
gnomAD
CA367220466
rs1207763237
116 N>S No ClinGen
TOPMed
gnomAD
CA4222894
rs757317955
117 H>N No ClinGen
ExAC
gnomAD
rs1392694048
CA367220449
118 S>R No ClinGen
TOPMed
rs149152949
CA157154665
119 W>C No ClinGen
ESP
TOPMed
CA4222893
rs368945306
119 W>R No ClinGen
ESP
ExAC
gnomAD
CA4222890
rs367610039
121 E>G No ClinGen
ESP
ExAC
gnomAD
TCGA novel 124 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367220395
rs1411490949
126 D>V No ClinGen
gnomAD
CA367220400
COSM3942207
rs1308499091
126 D>Y oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs964161713
CA157154616
129 P>L No ClinGen
TOPMed
gnomAD
CA4222886
rs749966042
129 P>S No ClinGen
ExAC
gnomAD
rs1225880645
CA367220374
130 V>I No ClinGen
TOPMed
CA4222885
rs375398740
132 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA367220354
rs1480119945
133 R>C No ClinGen
TOPMed
gnomAD
CA367220352
rs1480119945
133 R>G No ClinGen
TOPMed
gnomAD
rs1184968478
CA367220348
134 G>S No ClinGen
gnomAD
rs997519734
CA157154599
135 V>L No ClinGen
Ensembl
CA367220335
rs1234184204
136 C>G No ClinGen
TOPMed
gnomAD
rs774089133
CA4222883
138 S>L No ClinGen
ExAC
gnomAD
CA4222882
rs768168729
140 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1182234084
CA367220294
142 I>N No ClinGen
gnomAD
rs1345320766
CA367220289
143 V>F No ClinGen
gnomAD
CA367220291
rs1345320766
143 V>I No ClinGen
gnomAD
CA367220290
rs1345320766
143 V>L No ClinGen
gnomAD
CA367220282
rs1257326476
144 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs887087560
CA367220261
147 P>L No ClinGen
TOPMed
gnomAD
rs887087560
CA157154567
147 P>Q No ClinGen
TOPMed
gnomAD
rs769740096
CA4222879
148 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1476129427
CA367220256
148 E>G No ClinGen
TOPMed
CA367220252
rs1230116365
149 D>H No ClinGen
gnomAD
rs1444769435
CA367220057
150 V>I No ClinGen
gnomAD
CA367220042
rs1562851171
152 W>R No ClinGen
Ensembl
rs374657153
CA367220034
153 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367220030
rs1322652370
153 I>T No ClinGen
gnomAD
rs374657153
CA4222853
153 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA157153535
rs763627035
154 D>G No ClinGen
Ensembl
CA4222851
rs780724990
159 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs199977774
CA4222850
162 Q>* No ClinGen
ESP
ExAC
gnomAD
TCGA novel 162 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367219964
rs1329734204
163 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA4222849
CA4222848
rs201887265
164 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs954464010
CA367219951
165 P>A No ClinGen
TOPMed
gnomAD
rs954464010
CA157153471
165 P>T No ClinGen
TOPMed
gnomAD
rs1428789399
CA367219944
166 L>F No ClinGen
gnomAD
rs1032419220
CA157153464
166 L>R No ClinGen
Ensembl
CA367219940
rs1325924983
167 D>H No ClinGen
gnomAD
CA4222846
rs752388443
169 D>G No ClinGen
ExAC
gnomAD
rs764850380
CA4222845
170 C>S No ClinGen
ExAC
gnomAD
rs764850380
CA367219917
170 C>Y No ClinGen
ExAC
gnomAD
CA4222844
COSM270132
rs140561432
172 R>C Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3715795
rs140561432
CA367219904
172 R>G upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA4222842
rs372088978
172 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372088978
CA4222843
172 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA367219894
rs1313738957
174 S>N No ClinGen
TOPMed
rs546060485 175 P>= Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No NCI-TCGA
CA367219887
rs1187904199
175 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs773185976
CA4222840
175 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs774209318
CA4222806
176 D>E No ClinGen
ExAC
gnomAD
rs146871972
CA4222838
176 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755909350
CA4222805
177 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs750181342
CA4222803
177 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755909350
COSM3431582
CA4222804
177 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1334387832
CA367219863
178 C>R No ClinGen
gnomAD
rs1470709427
CA367219848
180 C>R No ClinGen
gnomAD
CA367219845
rs1426548120
180 C>Y No ClinGen
gnomAD
CA367219821
rs1410018965
183 V>A No ClinGen
gnomAD
rs767383357
CA4222801
183 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA367219811
rs1175268995
185 P>T No ClinGen
gnomAD
rs751532588
CA4222799
186 T>I No ClinGen
ExAC
gnomAD
rs761773096
CA4222800
186 T>P No ClinGen
ExAC
gnomAD
TCGA novel 188 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4222798
rs149860855
189 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA367219764
rs1262618169
192 S>I No ClinGen
gnomAD
rs1170146047
CA367219760
193 K>E No ClinGen
TOPMed
rs1209399275
CA367219746
194 N>K No ClinGen
gnomAD
rs775627840
CA4222796
195 Y>C No ClinGen
ExAC
gnomAD
CA157153246
rs112054297
196 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs759851892
CA4222794
196 S>R No ClinGen
ExAC
gnomAD
rs1324234401
CA367219731
197 Y>H No ClinGen
TOPMed
CA367219618
rs1350361678
202 K>I No ClinGen
gnomAD
rs1165249599
CA367219609
203 I>V No ClinGen
gnomAD
rs201281505
CA157152317
206 V>M No ClinGen
1000Genomes
CA4222771
rs773755392
207 Q>R No ClinGen
ExAC
gnomAD
rs1000289110
CA157152311
208 R>K No ClinGen
TOPMed
CA157152309
rs889433110
209 S>N No ClinGen
TOPMed
CA367219536
rs1321227498
209 S>R No ClinGen
TOPMed
rs1185954370
CA367219520
210 G>D No ClinGen
gnomAD
rs748777856
CA4222769
210 G>S No ClinGen
ExAC
gnomAD
CA4222768
rs199701204
211 C>W No ClinGen
1000Genomes
ExAC
gnomAD
rs1271599596
CA367219471
214 V>F No ClinGen
gnomAD
rs1583654731
CA367219470
214 V>G No ClinGen
Ensembl
CA4222767
rs769341984
216 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA367219447
rs745604736
216 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs745604736
CA4222766
216 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA367219433
rs1583654722
217 V>G No ClinGen
Ensembl
CA367219422
rs1583654715
218 V>G No ClinGen
Ensembl
rs746754945
CA4222763
COSM601153
218 V>M lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4222760
rs758346872
219 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA367219410
rs1248957536
219 D>G No ClinGen
gnomAD
rs1248957536
CA367219412
219 D>V No ClinGen
gnomAD
CA367219387
rs1304864884
221 K>T No ClinGen
TOPMed
gnomAD
TCGA novel
CA367219371
rs752732854
222 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
TOPMed
gnomAD
CA367219376
rs1176173165
222 E>G No ClinGen
TOPMed
rs746099302
CA157152269
222 E>Q No ClinGen
Ensembl
CA4222758
rs765416338
223 I>L No ClinGen
ExAC
gnomAD
CA367219360
rs1416680970
223 I>N No ClinGen
TOPMed
TCGA novel 225 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1463933859
CA367219338
225 K>T No ClinGen
gnomAD
rs1562850239
CA367219330
226 S>P No ClinGen
Ensembl
CA367219295
rs1299011407
228 S>L No ClinGen
gnomAD
rs1265128302
CA367219282
229 P>L No ClinGen
gnomAD
rs1463740379
CA367219267
231 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs766014536
CA4222756
COSM258002
232 R>Q large_intestine endometrium skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4222755
rs766564289
233 T>I No ClinGen
ExAC
gnomAD
rs1210884709
CA367219251
233 T>P No ClinGen
gnomAD
TCGA novel 234 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 235 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4222753
rs773522363
236 P>L No ClinGen
ExAC
gnomAD
CA157152254
rs924433228
236 P>S No ClinGen
Ensembl
CA4222751
rs762319538
237 L>I No ClinGen
ExAC
gnomAD
rs1300183105
CA367219197
239 T>S No ClinGen
TOPMed
rs769390624
CA4222749
241 S>P No ClinGen
ExAC
gnomAD
CA4222748
rs745353091
245 C>R No ClinGen
ExAC
gnomAD
rs1249204548
CA367219122
245 C>W No ClinGen
gnomAD
rs915273110
CA157152236
246 P>L No ClinGen
Ensembl
rs946772320
COSM3950488
CA157152238
246 P>S lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs866588308
CA157152234
247 H>Y No ClinGen
gnomAD
CA367219096
rs1323621779
248 I>V No ClinGen
gnomAD
TCGA novel 251 H>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA157152232
rs151082049
COSM1698584
251 H>Y skin [Cosmic] No ClinGen
cosmic curated
ESP
gnomAD
rs377005166
CA4222746
254 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1329329111
CA367219019
255 L>F No ClinGen
gnomAD
CA367219007
rs1392848476
256 I>T No ClinGen
gnomAD
rs777655694
CA4222744
257 M>V No ClinGen
ExAC
TOPMed
rs1470380717
CA367218962
260 E>K No ClinGen
gnomAD
COSM1089454
CA4222742
rs748182253
262 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA4222716
rs147388554
264 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA157146999
rs144196534
265 M>L No ClinGen
ESP
CA4222714
rs751834775
267 L>F No ClinGen
ExAC
gnomAD
rs764670979
CA4222713
268 L>I No ClinGen
ExAC
gnomAD
rs1357940715
CA367218759
269 E>* No ClinGen
TOPMed
rs1227034616
CA367218754
269 E>D No ClinGen
TOPMed
CA367218740
rs1267591810
271 C>F No ClinGen
TOPMed
rs753245114
CA4222711
274 E>G No ClinGen
ExAC
gnomAD
CA367218698
rs1384823755
277 R>K No ClinGen
TOPMed
gnomAD
CA367218686
rs1554369743
278 D>E No ClinGen
Ensembl
rs1164610145
CA367218685
279 Q>K No ClinGen
gnomAD
CA4222710
rs766055041
280 L>P No ClinGen
ExAC
gnomAD
CA157146991
rs868460292
283 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA4222709
rs760229761
283 R>K No ClinGen
ExAC
gnomAD
TCGA novel 284 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780669813
CA367218647
284 S>F No ClinGen
gnomAD
rs780669813
CA157146978
284 S>Y No ClinGen
gnomAD
CA4222693
rs778056562
286 Q>* No ClinGen
ExAC
gnomAD
rs758831650
CA4222692
287 W>R No ClinGen
ExAC
gnomAD
CA4222691
rs753298451
288 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 289 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367218567
rs1317368256
294 Q>R No ClinGen
gnomAD
rs568754305
COSM1089452
CA4222688
295 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765815507
CA4222689
COSM3703220
295 R>W liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1344120415
CA367218556
296 R>I No ClinGen
TOPMed
gnomAD
CA367218537
rs1195835329
299 Q>R No ClinGen
TOPMed
rs1443297650
CA367218528
300 D>V No ClinGen
gnomAD
rs1415557538
CA367218524
301 K>E No ClinGen
TOPMed
CA4222687
rs749861176
301 K>R No ClinGen
ExAC
gnomAD
TCGA novel 301 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 302 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 302 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367218499
rs1407752621
304 T>R No ClinGen
gnomAD
TCGA novel 305 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4222684
rs774036745
305 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs762703116
CA4222682
306 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs775432602
CA4222681
COSM1569001
307 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs769681617
CA367218484
307 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA4222680
rs769681617
307 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1345036398
CA367218482
308 T>P No ClinGen
TOPMed
CA4222678
rs776519995
310 R>C No ClinGen
ExAC
gnomAD
rs776519995
CA4222679
310 R>G No ClinGen
ExAC
gnomAD
rs771031038
CA4222677
310 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750688162
CA157146141
313 P>A No ClinGen
ExAC
gnomAD
rs1314804498
CA367218447
313 P>H No ClinGen
gnomAD
rs750688162
CA4222676
313 P>S No ClinGen
ExAC
gnomAD
rs778026259
CA4222675
314 P>R No ClinGen
ExAC
gnomAD
rs748472179
CA4222673
315 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA4222674
rs758881962
315 K>R No ClinGen
ExAC
gnomAD
rs147145122
CA4222672
316 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_051964
CA4222670
rs1802073
320 P>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1470639043
CA367218397
321 P>H No ClinGen
gnomAD
CA4222667
rs756785202
322 A>V No ClinGen
ExAC
rs375203218
CA4222664
323 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA4222665
rs763690982
323 P>T No ClinGen
ExAC
CA4222661
rs765176497
324 K>N No ClinGen
ExAC
gnomAD
TCGA novel 324 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775203383
CA4222662
324 K>T No ClinGen
ExAC
gnomAD
CA367218371
rs759451084
326 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs759451084
CA4222659
326 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 330 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1222351443
CA367218324
333 K>E No ClinGen
TOPMed
CA4222658
rs776627017
334 T>I No ClinGen
ExAC
TOPMed
CA367218312
rs1185513124
335 R>G No ClinGen
gnomAD
rs867831044
CA157146093
335 R>K No ClinGen
Ensembl
rs770958824
CA4222657
337 A>V No ClinGen
ExAC
gnomAD
CA367218279
rs1237455127
339 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1802074
CA4222656
VAR_051965
340 R>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs773327141
CA4222655
341 T>S No ClinGen
ExAC
gnomAD
TCGA novel 342 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA367218264
rs1282641028
342 N>Y No ClinGen
gnomAD
rs150761426
CA4222654
343 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 343 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1239793031
CA367218256
343 P>S No ClinGen
TOPMed
gnomAD
CA157146067
rs1020154016
344 K>R No ClinGen
TOPMed
gnomAD
CA4222653
rs748527273
345 R>T No ClinGen
ExAC
TOPMed
rs375649904
CA157146058
346 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs375649904
CA4222651
346 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs1372332587
CA367218232
347 V>L No ClinGen
Ensembl
rs1302239298
CA367218235
347 V>R No ClinGen
gnomAD

1 associated diseases with Q6FHJ7

[MIM: 265900]: Pyle disease (PYL)

A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures. {ECO:0000269|PubMed:27355534}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures. {ECO:0000269|PubMed:27355534}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q6FHJ7

Type Name Position InterPro Accession
domain Netrin domain 178 - 307 IPR001134
domain Netrin module, non-TIMP type 187 - 290 IPR018933
domain Frizzled domain 19 - 141 IPR020067

Functions

Description
EC Number
Subcellular Localization
  • Secreted
  • Cytoplasmic in ovarian tumor cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cell surface The external part of the cell wall and/or plasma membrane.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
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.

1 GO annotations of molecular function

Name Definition
Wnt-protein binding Binding to a Wnt-protein, a secreted growth factor involved in signaling.

18 GO annotations of biological process

Name Definition
bone morphogenesis The process in which bones are generated and organized.
canonical Wnt signaling pathway The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
negative regulation of canonical Wnt signaling pathway Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of DNA-binding transcription factor activity Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
negative regulation of non-canonical Wnt signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of non-canonical Wnt signaling pathway.
negative regulation of sodium-dependent phosphate transport Any process that stops, prevents, or reduces the frequency, rate or extent of sodium-dependent phosphate transport.
negative regulation of Wnt signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway.
phosphate ion homeostasis Any process involved in the maintenance of an internal steady state of phosphate ions within an organism or cell.
positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of canonical Wnt signaling pathway Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of epidermal cell differentiation Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of keratinocyte apoptotic process Any process that activates or increases the frequency, rate or extent of keratinocyte apoptotic process.
positive regulation of receptor internalization Any process that activates or increases the frequency, rate or extent of receptor internalization.
regulation of BMP signaling pathway Any process that modulates the frequency, rate or extent of the activity of any BMP receptor signaling pathway.
response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus.

23 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O19116 SFRP1 Secreted frizzled-related protein 1 Bos taurus (Bovine) PR
Q9DEQ4 SFRP1 Secreted frizzled-related protein 1 Gallus gallus (Chicken) PR
O57328 FZD1 Frizzled-1 Gallus gallus (Chicken) PR
Q9IA96 SFRP2 Secreted frizzled-related protein 2 Gallus gallus (Chicken) PR
O00144 FZD9 Frizzled-9 Homo sapiens (Human) PR
O75084 FZD7 Frizzled-7 Homo sapiens (Human) PR
Q14332 FZD2 Frizzled-2 Homo sapiens (Human) PR
Q8N474 SFRP1 Secreted frizzled-related protein 1 Homo sapiens (Human) PR
Q96HF1 SFRP2 Secreted frizzled-related protein 2 Homo sapiens (Human) PR
Q9ULW2 FZD10 Frizzled-10 Homo sapiens (Human) PR
Q9UP38 FZD1 Frizzled-1 Homo sapiens (Human) PR
O60353 FZD6 Frizzled-6 Homo sapiens (Human) PR
P97299 Sfrp2 Secreted frizzled-related protein 2 Mus musculus (Mouse) PR
Q8C4U3 Sfrp1 Secreted frizzled-related protein 1 Mus musculus (Mouse) PR
O70421 Fzd1 Frizzled-1 Mus musculus (Mouse) PR
Q9JIP6 Fzd2 Frizzled-2 Mus musculus (Mouse) PR
Q61090 Fzd7 Frizzled-7 Mus musculus (Mouse) PR
Q9Z1N6 Sfrp4 Secreted frizzled-related sequence protein 4 Mus musculus (Mouse) PR
Q08463 Fzd1 Frizzled-1 Rattus norvegicus (Rat) PR
Q08464 Fzd2 Frizzled-2 Rattus norvegicus (Rat) PR
Q9JLS4 Sfrp4 Secreted frizzled-related protein 4 Rattus norvegicus (Rat) PR
Q7YRN1 SFRP4 Secreted frizzled-related protein 4 Macaca mulatta (Rhesus macaque) PR
Q5BL72 fzd7 Frizzled-7 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MFLSILVALC LWLHLALGVR GAPCEAVRIP MCRHMPWNIT RMPNHLHHST QENAILAIEQ
70 80 90 100 110 120
YEELVDVNCS AVLRFFLCAM YAPICTLEFL HDPIKPCKSV CQRARDDCEP LMKMYNHSWP
130 140 150 160 170 180
ESLACDELPV YDRGVCISPE AIVTDLPEDV KWIDITPDMM VQERPLDVDC KRLSPDRCKC
190 200 210 220 230 240
KKVKPTLATY LSKNYSYVIH AKIKAVQRSG CNEVTTVVDV KEIFKSSSPI PRTQVPLITN
250 260 270 280 290 300
SSCQCPHILP HQDVLIMCYE WRSRMMLLEN CLVEKWRDQL SKRSIQWEER LQEQRRTVQD
310 320 330 340
KKKTAGRTSR SNPPKPKGKP PAPKPASPKK NIKTRSAQKR TNPKRV