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 Q9BYV8

Entry ID Method Resolution Chain Position Source
AF-Q9BYV8-F1 Predicted AlphaFoldDB

312 variants for Q9BYV8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA4485757
RCV001041591
RCV002551499
rs782769549
2 S>A Joubert syndrome 15 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs782137799
RCV001060291
RCV001573282
CA4485756
2 S>F Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs147494464
CA4485751
RCV001567050
RCV000878049
7 I>T Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001352531
CA4485747
rs149373377
10 P>A Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV003166643
RCV001295485
CA4485748
rs149373377
10 P>T Joubert syndrome 15 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1797714880
RCV001304239
14 M>I Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
rs111688621
RCV003151768
CA4485715
RCV000326349
18 P>L Variant assessed as Somatic; 0.0 impact. Joubert syndrome 15 [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA369287167
rs1584901211
RCV000023829
28 S>* Joubert syndrome 15 (jbts15) Joubert syndrome 15 [Ensembl, ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001544767
VAR_067053
rs368178632
RCV000023827
RCV000268974
CA129495
RCV001261715
36 M>T Joubert syndrome 15 (jbts15) Familial Autism Spectrum Disorder Joubert syndrome 9/15, digenic Joubert syndrome 15 probable disease-associated variant found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in CC2D2A [Ensembl, ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001233731
rs1797355895
38 K>E Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
RCV001211806
CA4485678
rs138907207
COSM389639
44 E>K lung Variant assessed as Somatic; 0.0 impact. Joubert syndrome 15 [Cosmic, NCI-TCGA, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs782426353
CA4485646
RCV001317454
67 A>V Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001045024
rs1797171250
76 L>V Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
rs1797171055
RCV001316027
77 S>C Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
rs1562984087
RCV000778821
CA369289874
82 E>* Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA166908655
RCV001880024
rs946180222
RCV001261714
85 A>P Joubert syndrome 15 (jbts15) Familial Autism Spectrum Disorder Joubert syndrome 15 [Ensembl, ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA369289462
rs1554417870
RCV001219060
93 D>G Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001346924
rs1797169504
93 D>H Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
rs200516165
RCV000322711
CA10623293
97 A>T Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs141025803
RCV000224397
CA4485603
RCV000265231
RCV001261713
107 A>G Familial Autism Spectrum Disorder Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4485591
RCV000809209
rs782436531
128 N>S Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000356697
rs781848162
RCV002519041
CA4485584
140 Q>* Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000498626
RCV001041906
CA4485567
rs145850728
144 S>N Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA369288970
RCV001230486
rs1170058733
146 V>A Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV000690921
rs1554417299
CA369288894
158 K>R Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001229664
rs781914996
CA4485559
172 P>S Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
VAR_067055
RCV000023826
rs140259402
CA129494
COSM1448065
RCV001362438
179 R>H Variant assessed as Somatic; 0.0 impact. Joubert syndrome 12/15, digenic large_intestine Joubert syndrome 15 probable disease-associated variant found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in KIF7 [NCI-TCGA, ClinVar, Cosmic, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA4485554
RCV001302249
rs782587361
RCV003166701
185 Q>E Joubert syndrome 15 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA166903776
rs146662384
RCV001261712
201 S>C Familial Autism Spectrum Disorder [ClinVar] Yes ClinGen
ClinVar
ESP
dbSNP
gnomAD
CA4485524
RCV001880023
RCV001261711
rs782188831
204 M>V Familial Autism Spectrum Disorder Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000878420
rs143303575
RCV001702359
VAR_067056
RCV001261666
RCV000483238
CA4485523
206 P>A Familial Autism Spectrum Disorder Joubert syndrome 15 found in a patient with autism; unknown pathological significance [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001315916
rs1796853863
214 Y>F Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
CA4485496
RCV001298862
rs527896814
218 H>P Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000915939
CA4485493
rs782704307
227 D>N Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1796819026
RCV001349076
233 S>G Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
CA4485487
RCV001345228
rs200882016
239 M>T Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA152310
rs113941736
VAR_067057
RCV000116677
RCV000514927
RCV001084476
240 C>G Joubert syndrome 15 (jbts15) Joubert syndrome 15 found in a patient with autism; unknown pathological significance [Ensembl, ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1554416667
RCV001320724
CA369287800
242 R>C Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA4485483
RCV001261665
RCV001880022
rs191246968
242 R>H Familial Autism Spectrum Disorder Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201834429
CA4485478
RCV000443886
RCV002522643
RCV001163694
252 G>R Joubert syndrome 15 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001235020
CA166903005
rs1050700461
258 A>V Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs200709703
RCV001050962
RCV002553243
CA4485459
COSM1085545
262 P>L Variant assessed as Somatic; 0.0 impact. endometrium Joubert syndrome 15 Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs782105300
CA4485449
RCV000426821
RCV001322686
284 R>Q Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001236338
CA166902838
rs782392521
304 P>R Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1308536722
RCV001345414
310 I>V Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
RCV000853324
rs1584867379
315 E>missing Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
RCV001236772
rs782610112
RCV000722981
317 E>missing Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
CA4485417
rs782286004
RCV000778820
326 R>* Variant assessed as Somatic; 0.0 impact. Joubert syndrome 15 [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV003160384
RCV001049490
rs782387467
CA4485415
326 R>L Joubert syndrome 15 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001245147
CA4485416
rs782387467
326 R>Q Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000354546
CA4485413
rs368525533
RCV001261664
330 A>P Joubert syndrome 15 (jbts15) Familial Autism Spectrum Disorder Joubert syndrome 15 [Ensembl, ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001210996
rs1796760925
333 S>P Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
RCV001313184
CA4485411
RCV001773624
rs564625875
334 G>R Joubert syndrome 15 (jbts15) Joubert syndrome 15 [Ensembl, ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000794924
rs782672149
CA4485410
335 R>K Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs147444165
CA4485409
RCV000441831
RCV001087358
337 S>P Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1554416156
RCV001235693
341 G>D Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
CA4485403
RCV001222269
rs184146463
RCV002562551
345 A>S Joubert syndrome 15 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA4485402
RCV001207993
rs184146463
345 A>T Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs782371437
RCV001051405
RCV002553253
RCV001772257
CA4485401
346 Q>R Joubert syndrome 15 (jbts15) Joubert syndrome 15 Inborn genetic diseases [Ensembl, ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA4485400
rs782131552
RCV002561202
RCV001205893
347 N>S Joubert syndrome 15 Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001230240
COSM3411587
CA4485396
rs782590600
352 G>S Variant assessed as Somatic; 0.0 impact. central_nervous_system Joubert syndrome 15 [NCI-TCGA, Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA4485393
rs201490201
RCV001316706
354 A>T Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000536528
RCV001584325
rs116313397
CA4485389
355 S>R Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000023828
VAR_067058
rs371812716
CA129496
RCV001295978
360 R>C Joubert syndrome 9/15, digenic Joubert syndrome 15 probable disease-associated variant found in a patient with Joubert syndrome; digenic inheritance; the patient also carries mutation A-1447 in CC2D2A [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
TOPMed
dbSNP
gnomAD
CA4485384
rs201504407
RCV001314529
363 S>G Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1796754986
RCV001229788
364 S>missing Joubert syndrome 15 [ClinVar] Yes ClinVar
dbSNP
RCV001232057
rs139909606
CA4485377
372 W>* Joubert syndrome 15 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369289591
rs782137799
2 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs1270454400
CA369289581
3 L>P No ClinGen
TOPMed
rs371561300
CA4485754
4 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4485753
COSM1737741
rs782048004
5 R>G central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1240057172
CA369289564
5 R>K No ClinGen
TOPMed
CA4485752
rs147494464
7 I>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA369289503
rs1554427535
9 N>S No ClinGen
gnomAD
CA369289491
rs1456565706
10 P>R No ClinGen
TOPMed
CA4485749
rs149373377
10 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 11 E>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369287373
rs1348618417
18 P>S No ClinGen
TOPMed
rs782733242
CA4485714
21 P>R No ClinGen
ExAC
gnomAD
CA4485713
rs782047730
23 Y>D No ClinGen
ExAC
rs577102638
CA4485712
24 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
CA369287243
rs1554424117
24 Q>R No ClinGen
gnomAD
CA369287211
rs1554424111
26 I>V No ClinGen
gnomAD
CA4485711
rs371724040
30 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 31 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs976909451
CA166871019
33 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs782494512
CA4485685
33 G>V No ClinGen
ExAC
gnomAD
rs1554421049
CA369284662
34 N>D No ClinGen
gnomAD
rs781793746
CA369284646
34 N>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 35 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 36 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4485683
rs782728353
36 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA166864453
rs1037868181
37 T>A No ClinGen
Ensembl
rs1182566204
CA369284567
39 Y>H No ClinGen
TOPMed
CA4485681
rs782779830
41 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs781963259
CA4485679
43 L>V No ClinGen
ExAC
gnomAD
rs1554421027
CA369284433
46 I>T No ClinGen
gnomAD
rs782061584
CA4485677
46 I>V No ClinGen
ExAC
gnomAD
rs889368989
CA166864413
47 K>E No ClinGen
Ensembl
rs1161916455
CA369284377
49 N>Y No ClinGen
TOPMed
rs782788278
CA4485656
50 Y>C No ClinGen
ExAC
gnomAD
CA369290859
rs1562984818
RCV000723142
50 Y>H No ClinGen
ClinVar
Ensembl
dbSNP
CA369290821
rs1554419929
52 Y>N No ClinGen
gnomAD
CA369290803
rs1554419921
53 K>E No ClinGen
gnomAD
CA369290768
rs1164943584
54 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 55 D>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4485654
rs781848679
55 D>N No ClinGen
ExAC
rs781888984 55 D>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs782776244
CA4485652
55 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA369290758
rs781848679
55 D>Y No ClinGen
ExAC
rs964301542
CA166909243
57 L>V No ClinGen
Ensembl
CA369290653
rs1160416225
60 R>G No ClinGen
TOPMed
CA369290620
rs1554419898
62 K>Q No ClinGen
gnomAD
CA369290601
rs1554419897
63 V>D No ClinGen
Ensembl
CA4485648
rs782070060
65 T>A No ClinGen
ExAC
gnomAD
rs782023923
CA4485647
66 F>C No ClinGen
ExAC
gnomAD
TCGA novel 69 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781991354
CA4485628
73 V>L No ClinGen
ExAC
gnomAD
CA369289967
rs1554419625
74 A>V No ClinGen
gnomAD
rs1554419617
CA369289946
76 L>P No ClinGen
gnomAD
CA4485627
rs782718109
79 Q>L No ClinGen
ExAC
gnomAD
rs782093879
CA4485626
80 T>K No ClinGen
ExAC
gnomAD
rs1554419609
CA369289862
83 V>M No ClinGen
gnomAD
CA369289833
rs1554419595
85 A>G No ClinGen
gnomAD
VAR_067054 89 Q>E found in a patient with Meckel syndrome; unknown pathological significance [UniProt] No UniProt
rs781918475
CA4485623
91 L>V No ClinGen
ExAC
gnomAD
rs150251054
CA4485609
100 D>H No ClinGen
ESP
ExAC
CA369289410
rs1554417856
101 P>S No ClinGen
gnomAD
CA4485607
rs781835148
102 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1554417847
CA369289399
103 A>T No ClinGen
gnomAD
CA4485606
rs369687508
103 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1237526302
CA369289394
104 E>K No ClinGen
TOPMed
rs782060662
CA4485605
105 T>I No ClinGen
ExAC
gnomAD
CA4485604
rs141025803
107 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781994102
CA4485601
108 R>K No ClinGen
ExAC
gnomAD
CA369289358
rs1554417824
110 N>D No ClinGen
gnomAD
CA369289355
rs1554417823
110 N>S No ClinGen
gnomAD
TCGA novel 111 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782349245
CA4485600
117 E>G No ClinGen
ExAC
gnomAD
rs781927158
CA4485598
118 Q>H No ClinGen
ExAC
gnomAD
rs782235279
CA4485599
118 Q>R No ClinGen
ExAC
CA4485597
rs377707022
119 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369289294
rs377707022
119 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4485596
rs782275564
120 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs782508627
CA4485594
121 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA166905306
rs907155632
121 S>R No ClinGen
TOPMed
gnomAD
rs782508627
CA369289285
121 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs782614895
CA369289274
123 E>* No ClinGen
ExAC
gnomAD
rs782614895
CA4485592
123 E>Q No ClinGen
ExAC
gnomAD
rs1467651379
CA369289248
125 F>L No ClinGen
TOPMed
rs782784827
CA4485589
COSM1085547
129 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1554417797
CA369289187
129 A>V No ClinGen
gnomAD
rs1554417794
CA369289171
131 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA369289142
rs1554417790
133 D>A No ClinGen
TOPMed
gnomAD
rs1554417790
CA369289145
133 D>V No ClinGen
TOPMed
gnomAD
rs781846728
CA4485588
134 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs781846728
CA4485587
134 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1445024969
CA369289134
134 S>P No ClinGen
TOPMed
gnomAD
CA166905273
rs782212510
135 S>G No ClinGen
Ensembl
CA166905268
rs200669032
136 R>C No ClinGen
TOPMed
gnomAD
CA4485586
rs546106020
136 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1554417775
CA369289093
137 S>L No ClinGen
gnomAD
CA4485585
rs782079407
137 S>P No ClinGen
ExAC
gnomAD
rs1319297274
CA369289088
138 T>A No ClinGen
TOPMed
gnomAD
rs1219186829
CA369289081
138 T>I No ClinGen
TOPMed
rs1562978882
CA369288995
142 V>A No ClinGen
Ensembl
CA4485568
rs782614635
143 I>T No ClinGen
ExAC
gnomAD
CA4485566
rs781814259
145 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs369257635
CA4485565
150 D>N No ClinGen
ESP
ExAC
gnomAD
CA166904319
rs547614936
152 D>G No ClinGen
Ensembl
rs1426742181
CA369288927
153 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 154 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1554417303
CA369288921
154 G>W No ClinGen
gnomAD
CA369288915
rs1303842941
155 P>S No ClinGen
TOPMed
CA369288901
COSM484828
rs1364977994
157 K>R kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1554417299
CA369288892
158 K>I No ClinGen
gnomAD
CA369288884
rs1554417296
159 A>V No ClinGen
gnomAD
rs1554417292
CA369288873
161 P>L No ClinGen
gnomAD
rs933949303
CA166904316
161 P>S No ClinGen
Ensembl
CA369288868
rs1554417291
162 H>Y No ClinGen
gnomAD
rs782167856
CA4485563
165 D>G No ClinGen
ExAC
gnomAD
TCGA novel 167 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA369288823
rs1554417288
168 Y>C No ClinGen
gnomAD
CA4485561
rs782795776
169 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA369288731
rs782036013
179 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782036013
CA4485556
179 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA369288716
rs1246167043
180 D>G No ClinGen
TOPMed
CA369288683
rs1554417268
182 D>E No ClinGen
gnomAD
CA4485555
rs782252494
182 D>N No ClinGen
ExAC
rs1554417263
CA369288674
183 S>C No ClinGen
gnomAD
CA4485553
rs782352855
186 Q>R No ClinGen
ExAC
gnomAD
CA4485551
rs782591147
189 I>L No ClinGen
ExAC
gnomAD
rs782591147
CA369288592
189 I>V No ClinGen
ExAC
gnomAD
CA369288578
rs1554417253
190 V>F No ClinGen
gnomAD
CA369288582
rs1554417253
190 V>I No ClinGen
gnomAD
rs868975261
CA369288565
191 G>* No ClinGen
Ensembl
rs782542855
CA4485550
191 G>E No ClinGen
ExAC
gnomAD
CA369288461
rs201818904
193 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA4485530
rs201818904
193 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs1554417028
CA369288429
COSM203809
195 Y>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs782044490
CA4485529
196 P>S No ClinGen
ExAC
gnomAD
rs782265732
CA4485527
197 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs782265732
CA4485528
197 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs782605784
CA4485526
198 A>V No ClinGen
ExAC
gnomAD
CA369288346
rs1554417018
203 T>A No ClinGen
gnomAD
rs782188831
CA4485525
204 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA369288331
rs1230657361
204 M>T No ClinGen
TOPMed
CA369288306
rs1554417012
205 N>K No ClinGen
gnomAD
rs143303575
CA369288303
206 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4485522
rs782541988
207 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA369288228
rs1584869641
211 I>T No ClinGen
Ensembl
TCGA novel 212 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1490823242
CA369288220
212 L>I No ClinGen
TOPMed
rs782466306
CA4485519
213 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4485502
rs782434620
215 K>E No ClinGen
ExAC
CA4485500
rs781813813
216 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs368968232
CA4485499
217 A>T No ClinGen
ESP
ExAC
gnomAD
CA4485497
rs527896814
218 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4485498
rs782550186
218 H>Y No ClinGen
ExAC
gnomAD
CA369288040
rs1554416718
220 K>N No ClinGen
gnomAD
rs1472855500
CA369288044
220 K>R No ClinGen
TOPMed
CA4485495
rs560824415
222 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA369287992
rs1409468056
224 L>P No ClinGen
TOPMed
rs1554416694
CA369287942
228 D>N No ClinGen
gnomAD
CA369287933
rs1554416692
228 D>V No ClinGen
gnomAD
CA369287919
rs1554416688
229 E>A No ClinGen
gnomAD
CA166903290
rs1057178000
230 R>S No ClinGen
TOPMed
CA4485491
rs373669246
232 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4485490
rs370522984
235 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781947734
CA4485488
239 M>V No ClinGen
ExAC
gnomAD
rs782411902
CA4485485
241 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 246 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1251966803
CA369287728
247 L>V No ClinGen
TOPMed
rs1562977278
CA369287695
249 M>R No ClinGen
Ensembl
CA4485480
rs782627258
250 L>P No ClinGen
ExAC
gnomAD
rs1554416656
CA369287657
252 G>E No ClinGen
gnomAD
CA4485462
rs782548890
256 V>I No ClinGen
ExAC
gnomAD
CA4485461
rs782548890
256 V>L No ClinGen
ExAC
gnomAD
rs782241458
CA4485460
261 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs781836610
CA4485457
268 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA369287363
rs781836610
268 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA166902949
rs545675609
269 S>F No ClinGen
1000Genomes
rs1584867599
CA369287354
269 S>P No ClinGen
Ensembl
rs782704918
CA4485456
271 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4485455
COSM1195170
rs782444437
272 A>T lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA4485454
rs781883377
275 Q>E No ClinGen
ExAC
gnomAD
rs782815662
CA4485453
276 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1210916591
CA369287257
280 P>S No ClinGen
TOPMed
rs1554416501
CA369287250
281 G>R No ClinGen
gnomAD
rs782005408
CA4485451
283 A>S No ClinGen
ExAC
gnomAD
CA369287229
rs1236914615
283 A>V No ClinGen
TOPMed
rs782729874
CA4485450
284 R>W No ClinGen
ExAC
gnomAD
rs139123547
CA4485448
286 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs11769911
CA4485447
286 R>P No ClinGen
ExAC
gnomAD
rs11769911
CA166902866
286 R>Q No ClinGen
ExAC
gnomAD
CA4485446
rs782277834
288 S>G No ClinGen
ExAC
gnomAD
CA369287178
rs1554416491
289 P>S No ClinGen
gnomAD
rs1180413412
CA369287137
293 P>R No ClinGen
TOPMed
gnomAD
rs782208031
CA4485442
293 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA369287128
rs1414616861
294 L>P No ClinGen
TOPMed
rs1554416471
CA369287058
301 R>G No ClinGen
gnomAD
CA369287031
rs1431624175
305 E>* No ClinGen
TOPMed
TCGA novel 309 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782435349
CA4485439
310 I>K No ClinGen
ExAC
gnomAD
rs1308536722
CA369286992
310 I>L No ClinGen
TOPMed
CA369286988
rs1554416457
311 E>* No ClinGen
gnomAD
rs782192154
CA4485438
311 E>G No ClinGen
ExAC
gnomAD
CA369286980
rs1349743180
312 Y>H No ClinGen
TOPMed
TCGA novel 315 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782654308
CA4485436
317 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 317 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781856872
CA4485434
322 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4485433
rs782780788
323 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4485432
rs782474335
324 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4485412
rs782447449
330 A>G No ClinGen
ExAC
gnomAD
rs368525533
CA4485414
330 A>T Joubert syndrome 15 (jbts15) [Ensembl] No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA369286833
rs1554416172
332 S>C No ClinGen
gnomAD
CA369286822
rs868934842
334 G>A No ClinGen
Ensembl
rs781865266
CA4485408
340 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs781865266
CA369286786
340 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA369286777
rs1554416156
341 G>V No ClinGen
gnomAD
CA4485407
rs782738694
343 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3765315
rs782089459
CA4485406
343 R>Q Variant assessed as Somatic; 0.0 impact. central_nervous_system breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1584865994
CA369286764
344 S>N No ClinGen
Ensembl
CA369286749
rs1175088517
346 Q>H No ClinGen
TOPMed
rs781952691
CA4485399
349 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1393202405
CA369286730
350 G>S No ClinGen
TOPMed
gnomAD
rs782359743
CA4485398
350 G>V No ClinGen
ExAC
CA166902122
rs894814775
351 G>S No ClinGen
TOPMed
gnomAD
CA4485395
rs193073161
352 G>A No ClinGen
ExAC
gnomAD
rs193073161
CA166900277
352 G>D No ClinGen
ExAC
gnomAD
rs782590600
CA369286519
352 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1296687719
CA369286506
353 P>H No ClinGen
TOPMed
CA369286502
rs1296687719
353 P>L No ClinGen
TOPMed
rs1554416123
CA369286507
353 P>S No ClinGen
gnomAD
CA4485392
rs201490201
354 A>P No ClinGen
ExAC
gnomAD
CA4485391
rs781832103
354 A>V No ClinGen
ExAC
TOPMed
gnomAD
COSM1187435
rs782809600
CA4485388
359 P>A lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
RCV000722982
rs1554416099
359 P>LQVPHQANFFVF* No ClinVar
dbSNP
rs1036892115
CA166900233
359 P>R No ClinGen
Ensembl
rs782809600
CA4485387
359 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA4485386
rs781878740
360 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs781878740
CA369286420
360 R>P No ClinGen
ExAC
gnomAD
CA231012
RCV000116676
rs587780311
361 S>P No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1437589015
CA369286370
365 G>S No ClinGen
TOPMed
rs782713689
CA4485383
366 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs782042321
CA4485381
367 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1248130871
CA369286340
367 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 368 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4485379
rs782211413
371 P>T No ClinGen
ExAC
rs1451295403
CA369286273
372 W>* No ClinGen
TOPMed

No associated diseases with Q9BYV8

1 regional properties for Q9BYV8

Type Name Position InterPro Accession
domain Cytochrome b5-like heme/steroid binding domain 64 - 162 IPR001199

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Cell projection, cilium
  • Cytoplasm, cytoskeleton, cilium basal body
  • Localizes mainly to the cilium basal body and in primary cilia
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
centriole A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
ciliary basal body A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport.
cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name Definition
cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
protein polyglutamylation The addition of one or more alpha-linked glutamyl units to the gamma carboxyl group of peptidyl-glutamic acid.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
F1MUG2 CEP41 Centrosomal protein of 41 kDa Bos taurus (Bovine) PR
Q99NF3 Cep41 Centrosomal protein of 41 kDa Mus musculus (Mouse) PR
Q4KM37 Cep41 Centrosomal protein of 41 kDa Rattus norvegicus (Rat) PR
Q6GQN0 cep41 Centrosomal protein of 41 kDa Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY RYKKDELFKR
70 80 90 100 110 120
LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD PDAETTARTN GKGNPGEQSP
130 140 150 160 170 180
SPEQFINNAG AGDSSRSTLQ SVISGVGELD LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD
190 200 210 220 230 240
RDSYQQCHIV GAYSYPIATL SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC
250 260 270 280 290 300
ERGFENLFML SGGLKVLAQK FPEGLITGSL PASCQQALPP GSARKRSSPK GPPLPAENKW
310 320 330 340 350 360
RFTPEDLKKI EYYLEEEQGP ADHPSRLNQA NSSGRESKVP GARSAQNLPG GGPASHSNPR
370
SLSSGHLQGK PWK