Q9BQ75
Gene name |
CMSS1 (C3orf26) |
Protein name |
Protein CMSS1 |
Names |
Cms1 ribosomal small subunit homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84319 |
EC number |
|
Protein Class |
|
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 Q9BQ75
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BQ75-F1 | Predicted | AlphaFoldDB |
238 variants for Q9BQ75
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs907721393 CA80213086 |
3 | D>G | No |
ClinGen TOPMed |
|
|
CA80213087 rs142737434 |
4 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA353966045 rs1342344274 COSM1161476 |
8 | E>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2513200 rs752861961 |
9 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3781894 CA353966067 rs1464031406 |
10 | W>* | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA353966084 rs1387296436 |
12 | N>K | No |
ClinGen gnomAD |
|
|
CA2513201 rs139284369 |
13 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA80213088 rs202161581 |
15 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA2513203 rs545501813 |
16 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353966114 rs1296925788 |
17 | A>V | No |
ClinGen gnomAD |
|
|
rs1373335184 CA353966118 |
18 | G>D | No |
ClinGen gnomAD |
|
|
rs1317632428 CA353966127 |
19 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs560450393 CA2513205 |
20 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749072696 CA2513206 |
20 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs560450393 CA2513204 |
20 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768468210 CA2513207 |
21 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1231249769 CA353966156 |
22 | E>D | No |
ClinGen gnomAD |
|
|
rs1273110899 CA353966158 |
23 | A>T | No |
ClinGen gnomAD |
|
|
CA2513913 rs771462354 |
25 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA353966179 rs1476647836 |
26 | G>S | No |
ClinGen TOPMed |
|
|
rs1053620657 CA80233666 |
26 | G>V | No |
ClinGen TOPMed |
|
|
CA2513914 rs776913368 |
28 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2513915 rs759883566 |
29 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34763458 CA353966217 |
32 | T>A | No |
ClinGen gnomAD |
|
|
rs34763458 CA80233667 |
32 | T>S | No |
ClinGen gnomAD |
|
|
CA353966225 rs1248087953 |
33 | E>G | No |
ClinGen gnomAD |
|
|
rs1012080976 CA80233668 |
33 | E>Q | No |
ClinGen gnomAD |
|
|
CA2513916 rs765385636 |
34 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA80233669 rs1042069237 |
34 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763047246 CA2513918 |
35 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2513917 rs202153141 |
35 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553718011 CA353966234 |
35 | M>L | No |
ClinGen Ensembl |
|
|
rs202153141 CA353966235 |
35 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1177931029 CA353966246 |
36 | Q>H | No |
ClinGen gnomAD |
|
|
CA2513919 rs764210947 |
40 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1468420431 CA353966275 |
41 | P>A | No |
ClinGen gnomAD |
|
|
CA353966290 rs1389381099 |
43 | P>L | No |
ClinGen gnomAD |
|
|
CA80233670 rs970595275 |
43 | P>S | No |
ClinGen Ensembl |
|
|
rs148574667 CA2513920 |
44 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1220350683 CA353966301 |
45 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353966297 rs1361903161 |
45 | P>S | No |
ClinGen gnomAD |
|
|
rs780029823 CA2513922 |
47 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2513923 rs542330811 |
48 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA80233671 rs769622807 |
49 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2513943 rs753759127 |
52 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754847196 CA2513944 |
52 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA353966763 rs1179836877 |
53 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 54 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80235031 rs202133468 |
55 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA80235030 rs894121566 |
55 | C>R | No |
ClinGen TOPMed gnomAD |
|
| rs1473145983 | 57 | L>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs948438346 CA80235032 |
65 | E>G | No |
ClinGen Ensembl |
|
|
rs752532070 CA2513946 |
65 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2513948 rs143731542 |
66 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746519805 CA2513949 |
67 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781574630 CA2513951 |
68 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353966874 rs1327709056 |
69 | K>E | No |
ClinGen gnomAD |
|
|
CA2513952 rs200360666 |
69 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1449828098 CA353966886 |
70 | T>I | No |
ClinGen gnomAD |
|
|
CA2513955 rs749640486 |
73 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs771322482 CA80235033 |
75 | K>E | No |
ClinGen gnomAD |
|
|
CA2513956 rs768881394 |
75 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA353966915 rs771322482 |
75 | K>Q | No |
ClinGen gnomAD |
|
|
CA353966984 rs1428206760 |
83 | A>G | No |
ClinGen gnomAD |
|
|
CA80235196 rs894806774 |
83 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2513981 rs772179353 |
84 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2513982 rs199807411 |
84 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2513984 rs139355781 |
86 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2513983 rs139355781 |
86 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353967040 rs1324131792 |
92 | P>R | No |
ClinGen gnomAD |
|
|
CA80235199 rs999731601 |
92 | P>S | No |
ClinGen TOPMed |
|
|
CA353967042 rs1332550467 |
93 | E>K | No |
ClinGen gnomAD |
|
|
rs144072498 CA2513988 |
94 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775526100 CA2513987 |
94 | D>N | No |
ClinGen ExAC |
|
|
rs1281567541 CA353967060 |
95 | L>P | No |
ClinGen gnomAD |
|
|
rs751284683 CA2513990 |
96 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs11537818 CA80235200 |
96 | Q>L | No |
ClinGen Ensembl |
|
|
CA353967069 rs1348710923 |
97 | K>* | No |
ClinGen gnomAD |
|
|
CA2513993 rs749962724 |
101 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs767064614 CA2513992 |
101 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2513995 rs780571061 |
102 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2513994 rs755556504 |
102 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs754390359 CA2513996 |
103 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1160927944 CA353967129 |
105 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1160927944 CA353967127 |
105 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA80235201 rs750491901 |
106 | R>G | No |
ClinGen Ensembl |
|
|
rs1370163743 CA353967133 |
106 | R>K | No |
ClinGen TOPMed |
|
|
rs143040480 CA2513997 COSM1417263 |
107 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2513998 rs374111402 |
107 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374111402 CA353967141 |
107 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748446978 TCGA novel CA2513999 |
108 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA353967158 rs1200259506 |
110 | I>T | No |
ClinGen TOPMed |
|
|
CA2514001 rs777787426 |
111 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2514003 rs771082736 |
112 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2514004 rs776833433 |
113 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA353967183 rs1309423923 |
114 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763027617 CA2514005 |
117 | L>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353967209 rs1266153967 |
118 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80235589 rs753865628 |
120 | S>C | No |
ClinGen Ensembl |
|
|
rs904351278 CA80235590 |
121 | C>Y | No |
ClinGen TOPMed |
|
|
rs942559752 CA80235591 |
124 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2514026 rs111259484 |
126 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2514025 rs111259484 |
126 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2514027 rs374911258 |
129 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA80235592 rs773026653 |
131 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2514028 rs773026653 |
131 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368404706 CA80235593 |
131 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA353967330 rs1450575940 |
135 | Y>H | No |
ClinGen gnomAD |
|
|
CA80235594 rs936724518 |
137 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs11537817 CA2514029 VAR_047645 |
138 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1230619799 CA353967350 |
138 | E>Q | No |
ClinGen TOPMed |
|
|
CA353967383 rs1405956276 |
141 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1284760511 CA353967394 |
142 | K>T | No |
ClinGen gnomAD |
|
|
CA2514044 rs748087161 |
144 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2514045 rs772040635 |
146 | L>F | No |
ClinGen ExAC |
|
|
CA353967426 rs1222587769 |
147 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 147 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2514046 rs773047495 |
148 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1460172419 CA353967442 |
149 | N>S | No |
ClinGen gnomAD |
|
|
rs1320108824 CA353967479 |
154 | K>E | No |
ClinGen TOPMed |
|
|
rs1289304347 CA353967483 |
154 | K>T | No |
ClinGen TOPMed |
|
|
rs746747839 CA2514047 COSM1049362 |
155 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs764700299 CA2514051 |
156 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA80235690 COSM36607 rs200457602 |
156 | V>I | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2514052 rs775036447 |
158 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs764653149 CA2514054 |
163 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs751990212 CA2514055 |
164 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2514059 VAR_033658 rs11537816 |
166 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM222000 rs549107074 CA2514060 |
167 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2514061 rs567367561 |
167 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353967566 rs1406607728 |
168 | A>V | No |
ClinGen TOPMed |
|
|
rs538073423 CA80235691 |
169 | L>V | No |
ClinGen 1000Genomes |
|
|
rs1576119218 CA353967575 |
170 | E>G | No |
ClinGen Ensembl |
|
|
CA353967583 rs1158362254 |
171 | L>P | No |
ClinGen TOPMed |
|
|
CA2514063 rs777621282 |
172 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2514065 rs746833755 |
173 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2514064 rs746833755 |
173 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs751543217 CA2514082 |
174 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2514084 rs781034874 |
175 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781034874 CA353967616 |
175 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769348396 CA2514086 |
177 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2514085 rs745665912 |
177 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769348396 CA2514087 |
177 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748780108 CA2514088 |
180 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312846378 CA353967646 CA353967645 |
180 | G>R | No |
ClinGen gnomAD |
|
|
rs566817716 CA2514091 |
181 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2514089 rs768233327 |
181 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2514092 rs772691746 |
182 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2514093 rs773461714 |
183 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs761032458 CA353967677 |
185 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs761032458 CA2514094 |
185 | I>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80236104 rs937881581 |
188 | F>L | No |
ClinGen TOPMed |
|
|
CA353967699 rs1185915329 |
188 | F>S | No |
ClinGen gnomAD |
|
|
CA2514095 rs766540446 |
189 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA80236105 rs1056310316 |
192 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2514097 rs759728002 |
192 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2514098 rs765337977 |
193 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1404794115 CA353963706 |
194 | V>D | No |
ClinGen gnomAD |
|
|
rs1381050860 CA353963712 |
195 | Q>P | No |
ClinGen gnomAD |
|
|
rs767387483 CA353963720 |
196 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2514122 rs767387483 COSM1693083 |
196 | A>V | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA353963754 rs1559779329 |
201 | L>P | No |
ClinGen Ensembl |
|
|
COSM1049363 CA2514124 rs755987152 |
204 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776581370 CA80236147 COSM3696344 |
204 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs766240349 CA2514125 |
205 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761411275 CA80236148 |
206 | V>M | No |
ClinGen Ensembl |
|
|
CA353963788 rs1225647718 |
207 | H>Y | No |
ClinGen gnomAD |
|
|
rs200212494 CA2514126 |
208 | L>R | No |
ClinGen gnomAD |
|
|
rs753573359 CA2514128 |
209 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1288744233 CA353963812 |
211 | G>E | No |
ClinGen TOPMed |
|
|
rs866665404 CA353963825 |
213 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA80236149 rs866665404 |
213 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2514130 rs778639646 |
214 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353963840 rs1445595157 |
216 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 216 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747688562 CA2514131 |
218 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353963861 rs267599511 |
219 | L>F | No |
ClinGen gnomAD |
|
|
CA80236150 rs267599511 |
219 | L>I | No |
ClinGen gnomAD |
|
|
CA80236151 rs267599512 |
220 | V>G | No |
ClinGen Ensembl |
|
|
CA353963872 rs1239421950 |
221 | K>E | No |
ClinGen TOPMed |
|
|
CA353963882 rs1481204902 |
222 | Q>R | No |
ClinGen gnomAD |
|
|
CA2514159 rs559210605 |
223 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2514133 rs777125666 |
223 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA353964451 rs1265277350 |
224 | G>S | No |
ClinGen gnomAD |
|
|
rs371531506 CA353964476 |
226 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2514161 rs774550042 |
226 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs371531506 CA2514160 |
226 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761729949 CA2514162 |
228 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770929066 CA2514163 COSM585008 |
232 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs970385007 CA353964571 |
234 | V>D | No |
ClinGen gnomAD |
|
|
rs970385007 CA80236501 |
234 | V>G | No |
ClinGen gnomAD |
|
|
CA80236500 rs1022840006 |
234 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs776658149 CA2514165 |
235 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1465088910 CA353964586 |
235 | F>L | No |
ClinGen TOPMed |
|
|
rs776658149 CA2514164 |
235 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA80236502 rs187702683 |
237 | W>R | No |
ClinGen 1000Genomes |
|
|
CA353964639 rs1308197330 |
239 | W>* | No |
ClinGen gnomAD |
|
|
CA2514169 rs762722346 |
239 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752535756 CA2514168 |
239 | W>R | No |
ClinGen ExAC |
|
|
CA2514171 rs763593881 |
241 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535338969 CA2514172 |
241 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353964670 rs1385591627 |
242 | Q>K | No |
ClinGen gnomAD |
|
|
rs766593371 CA2514174 |
244 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2514176 rs750977933 |
246 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756587102 CA2514177 |
247 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1316699367 CA353964762 |
248 | M>V | No |
ClinGen gnomAD |
|
|
CA353964773 rs1203709284 |
249 | D>N | No |
ClinGen gnomAD |
|
|
rs144381639 CA2514178 |
250 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353964800 rs1181275646 |
251 | P>A | No |
ClinGen gnomAD |
|
|
CA353964815 rs768939083 |
252 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs768939083 CA2514180 |
252 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778959990 CA2514181 |
252 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA353964946 rs1296721161 |
254 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 256 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146334015 CA2514207 |
256 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs575019956 CA2514210 |
259 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2514209 rs749131724 |
259 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774164679 CA2514211 |
260 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA80236670 rs929589144 |
261 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1475505901 CA353965064 |
263 | M>V | No |
ClinGen TOPMed |
|
|
rs767147032 CA2514213 |
264 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2514214 rs772725521 |
264 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2514215 rs760114072 |
265 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs139580613 CA2514218 |
267 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139580613 CA2514217 |
267 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408876591 CA353965112 |
267 | S>T | No |
ClinGen gnomAD |
|
|
rs765582945 CA2514219 |
269 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs753091051 CA2514221 |
270 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA353965159 rs1425712435 |
271 | S>L | No |
ClinGen gnomAD |
|
|
rs1347734793 CA353965186 |
273 | S>F | No |
ClinGen gnomAD |
|
|
CA353965211 rs1576124911 |
275 | K>N | No |
ClinGen Ensembl |
|
|
rs373998301 CA2514223 |
276 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373998301 CA2514222 |
276 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747114915 CA2514224 |
277 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs757365156 CA2514225 |
278 | L>P | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BQ75
No regional properties for Q9BQ75
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9BQ75 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
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 |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADDLGDEWW | ENQPTGAGSS | PEASDGEGEG | DTEVMQQETV | PVPVPSEKTK | QPKECFLIQP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KERKENTTKT | RKRRKKKITD | VLAKSEPKPG | LPEDLQKLMK | DYYSSRRLVI | ELEELNLPDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CFLKANDLTH | SLSSYLKEIC | PKWVKLRKNH | SEKKSVLMLI | ICSSAVRALE | LIRSMTAFRG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DGKVIKLFAK | HIKVQAQVKL | LEKRVVHLGV | GTPGRIKELV | KQGGLNLSPL | KFLVFDWNWR |
| 250 | 260 | 270 | |||
| DQKLRRMMDI | PEIRKEVFEL | LEMGVLSLCK | SESLKLGLF |