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 Q7RTT5

Entry ID Method Resolution Chain Position Source
AF-Q7RTT5-F1 Predicted AlphaFoldDB

199 variants for Q7RTT5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs139777180
CA10418055
3 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413232516
rs372765662
4 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413232502
rs146871555
5 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 5 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1468594005
CA413232492
6 A>D No ClinGen
TOPMed
gnomAD
CA10418052
rs368794828
6 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs782065618
CA10418050
12 R>M No ClinGen
ExAC
TOPMed
gnomAD
rs782065618
CA413232420
12 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA413232409
rs1401394375
13 A>S No ClinGen
TOPMed
CA413232403
rs1160654815
13 A>V No ClinGen
TOPMed
gnomAD
rs1363987698
CA413232371
16 Q>P No ClinGen
TOPMed
TCGA novel 19 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA329893501
rs139441743
COSM110531
19 E>K skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs782375845
CA10418048
22 Q>H No ClinGen
ExAC
rs1381233783
CA413232190
24 S>A No ClinGen
TOPMed
rs782089050
CA10418027
24 S>F No ClinGen
ExAC
gnomAD
rs782372168
CA10418025
25 F>C No ClinGen
ExAC
gnomAD
CA10418024
rs367870526
25 F>L No ClinGen
ESP
ExAC
gnomAD
CA413232166
rs1556767237
26 D>N No ClinGen
gnomAD
CA10418022
rs782418022
28 I>T No ClinGen
ExAC
gnomAD
CA10418021
rs782546960
31 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs782591301
CA10418020
32 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1556767233
CA413232047
34 K>E No ClinGen
gnomAD
TCGA novel
rs1556767232
CA413232037
34 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs782463353
CA10418019
35 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1556767230
CA413232026
35 K>R No ClinGen
gnomAD
rs1282525584
CA413232014
36 E>* No ClinGen
TOPMed
CA10418018
rs782225165
36 E>A No ClinGen
ExAC
gnomAD
CA10418017
rs782643319
37 W>R No ClinGen
ExAC
TCGA novel 38 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 41 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413231917
rs1556767224
42 S>P No ClinGen
gnomAD
CA10418012
rs3122210
VAR_053694
43 L>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs3122210
CA10418013
43 L>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413231884
rs1348638129
44 E>V No ClinGen
TOPMed
rs782767187
CA10418010
45 K>* No ClinGen
ExAC
gnomAD
CA413231847
rs782261388
46 I>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10418009
rs782261388
46 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781994529
CA10418008
47 S>C No ClinGen
ExAC
gnomAD
CA10418007
rs781917481
47 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA10418006
rs781917481
47 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA10418005
rs781917481
47 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs782325186
CA10418004
49 V>L No ClinGen
ExAC
gnomAD
rs1268778068
CA413231792
50 Y>C No ClinGen
TOPMed
rs1481015619
CA413231756
52 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 52 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1556767209
CA413231763
52 K>R No ClinGen
gnomAD
TCGA novel 53 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1556767205
CA413231725
54 K>N No ClinGen
gnomAD
rs781966232
CA10418002
56 E>K No ClinGen
ExAC
CA10418001
rs782395562
58 M>T No ClinGen
ExAC
gnomAD
rs782692818
CA10417999
61 L>R No ClinGen
ExAC
gnomAD
rs150643694
CA10418000
61 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1556767141
CA413231034
62 G>D No ClinGen
gnomAD
CA329893483
rs141868047
62 G>S No ClinGen
ESP
TOPMed
CA10417973
rs782426817
64 K>E No ClinGen
ExAC
gnomAD
rs1601976918
CA413230999
64 K>N No ClinGen
Ensembl
rs1556767136
CA413231005
64 K>R No ClinGen
gnomAD
CA413230987
rs1601976909
65 A>V No ClinGen
Ensembl
CA10417972
rs781800914
66 T>N No ClinGen
ExAC
gnomAD
TCGA novel 67 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 67 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417971
rs782598650
68 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA413230931
rs1556767132
70 F>S No ClinGen
gnomAD
CA10417970
rs782410496
71 M>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1479032244
CA413230921
71 M>V No ClinGen
TOPMed
rs781855328
CA10417969
72 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA413230844
rs1601976850
76 A>D No ClinGen
Ensembl
rs1556767125
CA413230846
76 A>T No ClinGen
gnomAD
TCGA novel 76 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1288212
rs782163035
CA10417967
77 T>K Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs147448937
CA10417965
78 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781793568
CA10417966
78 D>G No ClinGen
ExAC
gnomAD
TCGA novel 78 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142984842
CA10417964
80 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA413230778
rs1556767119
81 G>A No ClinGen
gnomAD
rs1352184981
CA413230784
81 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA413230751
rs1439376469
83 D>Y No ClinGen
TOPMed
rs782771584
CA10417960
84 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA413230715
rs1556767112
85 D>G No ClinGen
gnomAD
CA413230684
rs1241818200
87 D>Y No ClinGen
TOPMed
rs1556767107
CA413230667
88 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10417959
rs782009954
88 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA413230662
rs782009954
88 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10417958
rs782009954
88 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA10417957
rs782409737
89 N>S No ClinGen
ExAC
gnomAD
rs781930259
CA10417956
90 Q>* No ClinGen
ExAC
gnomAD
rs781930259
CA10417955
90 Q>E No ClinGen
ExAC
gnomAD
rs782631834
CA10417952
CA10417953
90 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA10417954
rs782338818
90 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs782297641
CA413230625
91 G>A No ClinGen
ExAC
gnomAD
CA10417950
rs782297641
COSM3800660
91 G>E urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs782520779
CA10417951
91 G>R No ClinGen
ExAC
gnomAD
rs782571322
CA10417949
92 N>S No ClinGen
ExAC
gnomAD
rs782535632
CA10417928
94 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA413230417
rs1556766873
96 R>C No ClinGen
gnomAD
CA10417926
rs782562552
96 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs782562552
CA10417927
96 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10417925
rs782446928
98 Q>R No ClinGen
ExAC
CA413230334
rs148578012
102 C>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10417924
rs148578012
102 C>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782735386
CA10417923
102 C>W No ClinGen
ExAC
gnomAD
CA413230320
rs1556766865
103 R>G No ClinGen
gnomAD
CA413230318
rs1214335894
103 R>K No ClinGen
TOPMed
gnomAD
CA10417922
rs782111091
105 Q>H No ClinGen
ExAC
gnomAD
rs1556766864
CA413230280
106 R>G No ClinGen
gnomAD
TCGA novel 106 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417921
rs377004276
107 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782729136
CA10417920
108 F>S No ClinGen
1000Genomes
ExAC
gnomAD
rs782053656
CA413230227
109 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10417919
rs782053656
109 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs375137766
CA329893289
112 M>I No ClinGen
ESP
TOPMed
rs1556766612
CA413229479
112 M>T No ClinGen
gnomAD
CA10417898
rs181832602
113 P>A No ClinGen
1000Genomes
ExAC
gnomAD
rs181832602
CA10417897
113 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1392453502
CA413229447
114 K>N No ClinGen
TOPMed
CA413229422
rs1453087970
116 P>S No ClinGen
TOPMed
gnomAD
rs1556766604
CA413229408
117 A>S No ClinGen
gnomAD
TCGA novel 118 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 119 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413229368
rs1556766602
119 E>D No ClinGen
gnomAD
CA413229356
rs1176040205
120 G>E No ClinGen
TOPMed
CA413229340
rs1556766599
121 N>S No ClinGen
gnomAD
CA413229328
rs1601974645
122 D>Y No ClinGen
Ensembl
CA329893288
rs782803891
123 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA10417895
rs782803891
123 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413229283
rs782337395
125 G>* No ClinGen
ExAC
TOPMed
gnomAD
rs782337395
CA10417893
125 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1435387156
CA413229278
125 G>V No ClinGen
TOPMed
gnomAD
CA413229272
rs1556766595
126 V>L No ClinGen
gnomAD
CA413229253
COSM1294586
rs1299492721
127 P>S cervix [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs370009445
CA10417891
129 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1294585
rs782388208
CA10417890
132 S>P cervix [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA413229143
COSM457709
rs1556766591
135 D>N breast [Cosmic] No ClinGen
cosmic curated
gnomAD
CA413229102
rs1212260452
137 K>N No ClinGen
TOPMed
CA10417887
rs782673840
COSM1294584
138 H>Q cervix [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs201165960
CA10417886
139 L>M No ClinGen
ExAC
gnomAD
CA10417885
rs782209793
139 L>P No ClinGen
ExAC
TOPMed
rs782620811
CA10417884
140 C>R No ClinGen
ExAC
rs782508818
CA10417882
141 P>L No ClinGen
ExAC
gnomAD
CA413229057
rs1556766586
141 P>S No ClinGen
gnomAD
rs375904446
CA329893287
142 P>L No ClinGen
ESP
TOPMed
rs1209643049
CA413229030
143 G>* No ClinGen
TOPMed
rs1250266831
CA413229009
144 K>N No ClinGen
TOPMed
gnomAD
rs782561132
CA10417879
145 P>A No ClinGen
ExAC
gnomAD
rs138008347
CA413229000
145 P>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10417878
rs138008347
145 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10417877
rs782700207
146 S>N No ClinGen
ExAC
gnomAD
rs1556766578
CA413228974
147 T>A No ClinGen
gnomAD
rs1556766575
CA413228950
150 K>N No ClinGen
gnomAD
CA10417874
rs781962389
150 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs781962389
CA413228951
150 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA413228945
rs1435435053
151 I>T No ClinGen
TOPMed
gnomAD
rs782767975
CA10417873
151 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10417872
rs150328554
152 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs782020031
CA10417871
154 T>I No ClinGen
ExAC
gnomAD
rs782421121 155 S>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA10417845
rs782307644
156 G>E No ClinGen
ExAC
CA10417869
CA329893286
rs145931176
156 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10417842
rs782360291
158 K>N No ClinGen
ExAC
gnomAD
rs782606998
CA10417843
158 K>R No ClinGen
ExAC
gnomAD
CA413228885
rs782643776
CA10417840
159 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs782247750
CA10417841
159 R>T No ClinGen
ExAC
gnomAD
rs782548544
CA10417839
161 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA10417838
rs781908214
161 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA413228867
rs1556766246
162 H>R No ClinGen
gnomAD
rs782569072
CA10417837
163 A>T No ClinGen
ExAC
TOPMed
gnomAD
RCV000901297
CA10417836
rs200360993
165 T>I No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs140270142
CA10417835
166 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA329893168
rs782780877
167 R>G No ClinGen
1000Genomes
CA413228836
rs1286977810
167 R>T No ClinGen
TOPMed
CA413228831
rs1556766242
168 L>V No ClinGen
gnomAD
COSM1122861
CA413228827
rs782123925
169 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM211514
rs1381667343
CA413228823
169 R>H Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA10417833
rs782123925
169 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA413228814
rs1556766239
171 R>G No ClinGen
gnomAD
CA413228801
rs1342577940
172 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 173 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10417831
rs782797072
175 V>L No ClinGen
ExAC
gnomAD
rs782044922
CA10417830
176 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs781929697
CA413228770
177 Y>C No ClinGen
ExAC
gnomAD
rs781929697
CA10417829
177 Y>F No ClinGen
ExAC
gnomAD
CA413228765
rs1556766232
178 E>K No ClinGen
gnomAD
CA413228747
rs1324807899
180 I>T No ClinGen
TOPMed
rs1212693073
CA413228743
181 S>G No ClinGen
TOPMed
gnomAD
CA10417827
rs782107980
181 S>N No ClinGen
ExAC
gnomAD
rs146690510
CA329893167
181 S>R No ClinGen
ESP
TOPMed
gnomAD
rs1212693073
CA413228744
181 S>R No ClinGen
TOPMed
gnomAD
CA10417825
rs112382781
182 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs5986182
CA10417826
182 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782277755
CA10417824
183 P>L No ClinGen
ExAC
gnomAD
rs1198323757
CA413228714
185 E>D No ClinGen
TOPMed
CA10417822
RCV000961798
rs146891115
185 E>K No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA413228718
rs146891115
185 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs782199762
CA413228703
186 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs202133163
CA10417819
187 D>E No ClinGen
ExAC
gnomAD
TCGA novel 187 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782618194
CA10417820
187 D>V No ClinGen
ExAC
gnomAD
CA10417818
rs781872619
188 E>Q No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q7RTT5

3 regional properties for Q7RTT5

Type Name Position InterPro Accession
domain Krueppel-associated box 23 - 82 IPR001909
domain Ancestral KRAB domain 20 - 83 IPR003655
conserved_site SSXRD motif 158 - 187 IPR019041

Functions

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

1 GO annotations of cellular component

Name Definition
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.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name Definition
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MNGDDAFARR PRAGAQIPEK IQKSFDDIAK YFSKKEWEKM KSLEKISYVY MKRKYEAMTK
70 80 90 100 110 120
LGFKATLPPF MHNTGATDLQ GNDFDNDRNQ GNQVERPQMT FCRLQRIFPK IMPKKPAEEG
130 140 150 160 170 180
NDSKGVPEAS GSQNDGKHLC PPGKPSTSEK INKTSGPKRG KHAWTHRLRE RKQLVIYEEI
SDPEEDDE