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 Q96H35

Entry ID Method Resolution Chain Position Source
AF-Q96H35-F1 Predicted AlphaFoldDB

135 variants for Q96H35

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1208801530
CA374780307
3 A>T No ClinGen
gnomAD
CA5224301
rs755712347
4 E>D No ClinGen
ExAC
gnomAD
CA374780274
COSM1314421
rs1238898726
5 T>I Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA5224300
rs752115212
5 T>S No ClinGen
ExAC
gnomAD
CA374780252
rs1204689356
8 L>P No ClinGen
TOPMed
rs767203964
CA5224299
9 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 10 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1212029552
CA374780222
13 A>T No ClinGen
TOPMed
TCGA novel 13 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5224297
rs142072362
14 S>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1321548081
CA374780209
15 I>N No ClinGen
gnomAD
rs1382294354
CA374780211
15 I>V No ClinGen
gnomAD
CA374780202
rs1437554916
16 L>P No ClinGen
gnomAD
CA374780177
rs1200664345
20 S>A No ClinGen
TOPMed
TCGA novel 20 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5224295
rs762727807
22 Q>E No ClinGen
ExAC
gnomAD
rs189718399
CA5224294
23 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1384379486
CA374780145
25 H>P No ClinGen
gnomAD
rs1188730969
CA374780139
26 R>* No ClinGen
gnomAD
rs1440546987
CA374780137
26 R>Q Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA374780123
rs1158687506
28 W>L No ClinGen
TOPMed
CA374780118
rs1259007140
29 I>V No ClinGen
gnomAD
CA374780095
rs1204077231
32 L>P No ClinGen
gnomAD
rs1413504860
CA374780093
33 D>Y No ClinGen
TOPMed
CA374780060
rs1294663772
37 T>I No ClinGen
gnomAD
CA374780058
rs1394677995
38 E>K No ClinGen
TOPMed
CA374779384
rs1337675173
40 H>Y No ClinGen
gnomAD
CA374779361
rs762847246
42 L>F No ClinGen
ExAC
gnomAD
CA5224277
rs762847246
42 L>I No ClinGen
ExAC
gnomAD
CA5224276
rs201291648
46 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs760666889
CA199446915
51 V>I No ClinGen
Ensembl
CA199446878
rs376059542
59 H>Y No ClinGen
ESP
TOPMed
gnomAD
rs377109202
CA199446871
63 A>V No ClinGen
gnomAD
COSM1104818
rs1430729865
CA374779049
69 R>* Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1173679427
CA374779047
69 R>Q No ClinGen
gnomAD
rs1387944736
CA374778994
73 F>L No ClinGen
TOPMed
CA5224273
rs776776524
73 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs750099497
CA5224272
75 N>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 79 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374778312
rs1246510737
82 A>G No ClinGen
gnomAD
CA5224251
rs759635110
82 A>T No ClinGen
ExAC
gnomAD
rs1312371590
CA374778226
87 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA374778214
rs1449344732
87 Q>H No ClinGen
gnomAD
CA199443961
rs867091740
87 Q>R No ClinGen
Ensembl
CA374778198
rs1451476550
88 C>* No ClinGen
gnomAD
CA374778168
rs1247857571
90 N>S No ClinGen
gnomAD
rs774794967
CA374778145
91 G>A No ClinGen
ExAC
gnomAD
CA5224250
rs774794967
91 G>D No ClinGen
ExAC
gnomAD
CA199443949
rs866235851
94 A>V No ClinGen
Ensembl
rs1384935250
CA374778064
97 K>E No ClinGen
gnomAD
rs934094626
CA199443903
97 K>R No ClinGen
Ensembl
rs771261518
CA5224247
98 K>R No ClinGen
ExAC
gnomAD
CA374777989
rs1450299362
101 V>A No ClinGen
gnomAD
CA5224246
rs749662781
102 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA5224245
rs778296954
103 W>R No ClinGen
ExAC
gnomAD
rs770263708
CA5224244
105 H>D No ClinGen
ExAC
gnomAD
rs1183161411
CA374777931
105 H>R No ClinGen
gnomAD
rs746545524
CA5224242
107 Q>E No ClinGen
ExAC
gnomAD
rs376023850
CA5224241
107 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5224240
rs376023850
107 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5224239
rs749984013
109 K>R No ClinGen
ExAC
gnomAD
rs149650476
CA5224221
110 R>K No ClinGen
ESP
ExAC
TOPMed
rs996001734
CA199442061
111 Y>D No ClinGen
TOPMed
CA5224220
rs756907995
112 D>G No ClinGen
ExAC
gnomAD
CA374777543
rs756907995
112 D>V No ClinGen
ExAC
gnomAD
rs749114687
CA5224219
113 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA374777483
rs1212445260
114 N>K No ClinGen
gnomAD
rs1564454940
CA374777497
114 N>S No ClinGen
Ensembl
CA199442049
rs373830841
116 N>H No ClinGen
Ensembl
CA199442028
rs1041132462
117 D>V No ClinGen
TOPMed
CA374777379
rs1434847020
119 I>L No ClinGen
gnomAD
CA199442019
rs1040128695
119 I>M No ClinGen
TOPMed
rs901716143
CA199442027
119 I>S No ClinGen
gnomAD
rs376963049
CA5224217
121 P>L No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA5224218
rs777668021
121 P>S No ClinGen
ExAC
gnomAD
CA5224216
rs200837960
122 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5224215
rs767489161
123 S>G No ClinGen
ExAC
gnomAD
CA374777281
rs1420913993
124 L>F No ClinGen
Ensembl
rs766532373
CA5224212
125 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1409629978
CA374777236
126 P>S No ClinGen
gnomAD
CA5224210
rs773573134
130 T>P No ClinGen
ExAC
gnomAD
CA374777073
rs1266756786
132 P>R No ClinGen
gnomAD
rs1480797498
CA374777022
135 S>P No ClinGen
gnomAD
rs1234407611
CA374777018
135 S>Y No ClinGen
TOPMed
gnomAD
rs1184393931
CA374777005
136 N>H No ClinGen
TOPMed
rs1201947496
CA374776963
137 L>P No ClinGen
gnomAD
CA374776947
rs1436897946
138 S>N No ClinGen
gnomAD
rs1459538886
CA374776674
140 T>A No ClinGen
gnomAD
CA5224192
rs758636046
143 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA374776654
rs758636046
143 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA5224191
rs750700240
145 A>S No ClinGen
ExAC
gnomAD
rs1223633773
CA374776632
146 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA374776616
rs1383790951
148 A>G No ClinGen
gnomAD
rs1405378196
CA374776580
153 M>I No ClinGen
gnomAD
CA5224188
rs777026900
153 M>K No ClinGen
ExAC
gnomAD
rs1289555831
CA374776575
154 A>S No ClinGen
TOPMed
gnomAD
rs1289555831
CA374776577
154 A>T No ClinGen
TOPMed
gnomAD
rs764531100
CA5224187
154 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 155 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374776568
rs1156654041
155 E>G No ClinGen
gnomAD
rs1438930009
CA374776552
157 P>L No ClinGen
gnomAD
CA374776544
rs1442424958
158 D>E No ClinGen
gnomAD
CA374776549
rs1184995164
158 D>H No ClinGen
gnomAD
rs1254826324
CA374776526
161 Y>D No ClinGen
gnomAD
rs1254826324
CA374776527
161 Y>H No ClinGen
gnomAD
rs1186644748
CA374776515
162 P>L No ClinGen
gnomAD
rs150794673
CA5224183
163 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA374776504
rs1259551925
164 A>V No ClinGen
TOPMed
gnomAD
CA374776501
rs1360542658
165 P>S No ClinGen
gnomAD
rs1294430190
CA374776496
166 V>I No ClinGen
gnomAD
rs1382360935
CA374776478
168 S>F No ClinGen
gnomAD
CA199439363
rs202121880
169 Y>* No ClinGen
Ensembl
CA5224180
rs747917276
169 Y>C No ClinGen
ExAC
gnomAD
CA199439341
rs746663334
170 F>L No ClinGen
TOPMed
gnomAD
rs111532590
CA199439351
170 F>S No ClinGen
Ensembl
CA5224179
rs781003949
171 K>Q No ClinGen
ExAC
gnomAD
CA374776454
rs1419039064
172 P>Q No ClinGen
gnomAD
CA374776458
rs1286982427
172 P>T No ClinGen
gnomAD
rs1165279730
CA374776450
173 P>Q No ClinGen
gnomAD
CA5224178
rs768485810
173 P>S No ClinGen
ExAC
gnomAD
CA374776452
rs768485810
173 P>T No ClinGen
ExAC
gnomAD
CA374776441
rs1367587940
174 D>E No ClinGen
gnomAD
rs1422332046
CA374776447
174 D>N No ClinGen
gnomAD
rs746909067
CA5224177
175 K>R No ClinGen
ExAC
gnomAD
rs1429704012
CA374776395
181 Y>C No ClinGen
gnomAD
rs779955411
CA5224176
183 R>T No ClinGen
ExAC
gnomAD
CA374776377
rs1564453940
184 T>A No ClinGen
Ensembl
CA5224175
rs372681152
184 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5224173
rs779151852
187 K>T No ClinGen
ExAC
gnomAD
rs757422073
CA5224172
188 S>C No ClinGen
ExAC
gnomAD
CA5224171
rs754184979
189 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146365190
CA5224170
189 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5224168
rs184989286
190 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1399283977
CA374776337
191 R>R No ClinGen
gnomAD
CA374776335
rs762602502
191 R>S No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q96H35

2 regional properties for Q96H35

Type Name Position InterPro Accession
domain RNA recognition motif domain 25 - 106 IPR000504
domain RNA-binding protein 18, RNA recognition motif 26 - 105 IPR039157

Functions

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

3 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intercellular bridge A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

1 GO annotations of molecular function

Name Definition
RNA binding Binding to an RNA molecule or a portion thereof.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3ZCC5 RBM18 Probable RNA-binding protein 18 Bos taurus (Bovine) PR
A0AV96 RBM47 RNA-binding protein 47 Homo sapiens (Human) PR
Q8TBY0 RBM46 Probable RNA-binding protein 46 Homo sapiens (Human) PR
Q9CR83 Rbm18 Probable RNA-binding protein 18 Mus musculus (Mouse) PR
10 20 30 40 50 60
MEAETKTLPL ENASILSEGS LQEGHRLWIG NLDPKITEYH LLKLLQKFGK VKQFDFLFHK
70 80 90 100 110 120
SGALEGQPRG YCFVNFETKQ EAEQAIQCLN GKLALSKKLV VRWAHAQVKR YDHNKNDKIL
130 140 150 160 170 180
PISLEPSSST EPTQSNLSVT AKIKAIEAKL KMMAENPDAE YPAAPVYSYF KPPDKKRTTP
YSRTAWKSRR