Q9NYH9
Gene name |
UTP6 (C17orf40, HCA66, MHAT) |
Protein name |
U3 small nucleolar RNA-associated protein 6 homolog |
Names |
Hepatocellular carcinoma-associated antigen 66, Multiple hat domains protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55813 |
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
4 structures for Q9NYH9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7MQ8 | EM | 360 A | LP | 1-597 | PDB |
| 7MQ9 | EM | 387 A | LP | 1-597 | PDB |
| 7MQA | EM | 270 A | LP | 1-597 | PDB |
| AF-Q9NYH9-F1 | Predicted | AlphaFoldDB |
480 variants for Q9NYH9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs765670263 CA8489429 |
6 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA8489428 rs759333649 |
8 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1364565354 CA399024218 |
9 | I>M | No |
ClinGen TOPMed |
|
|
CA289396224 rs541116440 |
9 | I>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8489425 rs541116440 |
9 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8489426 rs766002275 |
9 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1164104731 CA399024215 |
10 | E>Q | No |
ClinGen gnomAD |
|
|
CA8489424 rs772739532 |
11 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771926093 CA399024165 |
14 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771926093 CA8489423 |
14 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA399024166 rs1263172853 |
14 | P>S | No |
ClinGen gnomAD |
|
|
rs1157058614 CA399024126 |
17 | E>D | No |
ClinGen TOPMed |
|
|
rs1228561173 CA399024139 |
17 | E>K | No |
ClinGen gnomAD |
|
|
rs1339207643 CA399024075 |
21 | R>C | No |
ClinGen TOPMed |
|
|
CA399024071 rs1401672977 |
21 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399024068 rs1401672977 |
21 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8489421 rs199526310 |
22 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1340887520 CA399024062 |
22 | I>V | No |
ClinGen gnomAD |
|
|
rs746145090 CA8489419 |
23 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113076339 CA289396197 |
24 | L>P | No |
ClinGen Ensembl |
|
|
CA289396200 rs953817706 |
24 | L>V | No |
ClinGen TOPMed |
|
|
CA8489418 COSM1197377 rs555281395 |
25 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771116748 CA8489417 |
27 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399024004 rs1411829153 |
27 | H>L | No |
ClinGen gnomAD |
|
|
CA8489416 rs747087699 |
27 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489415 rs542176758 |
28 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8489414 rs758874849 |
29 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1490971920 CA399023981 |
30 | I>L | No |
ClinGen gnomAD |
|
|
CA8489392 rs76761783 |
32 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs969747057 CA289394646 |
33 | I>F | No |
ClinGen TOPMed |
|
|
rs1437692905 CA399023406 |
34 | I>L | No |
ClinGen TOPMed |
|
|
rs755763826 CA8489391 |
34 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399023389 rs1324353190 |
35 | K>E | No |
ClinGen TOPMed |
|
|
VAR_031222 RCV000966508 rs16967042 CA8489390 |
35 | K>R | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399023383 rs16967042 |
35 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1265526094 CA399023376 |
36 | K>E | No |
ClinGen TOPMed |
|
|
rs769100071 CA289394627 |
37 | A>G | No |
ClinGen gnomAD |
|
|
CA289394624 rs267604798 |
38 | S>F | No |
ClinGen Ensembl |
|
|
CA8489386 rs1555577717 |
39 | D>N | No |
ClinGen Ensembl |
|
|
rs1598123966 CA399023327 |
40 | L>V | No |
ClinGen Ensembl |
|
|
CA8489385 rs751002439 |
41 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1598123956 CA399023288 |
43 | K>R | No |
ClinGen Ensembl |
|
|
CA399023268 rs1567796190 |
44 | I>M | No |
ClinGen Ensembl |
|
|
CA399023250 rs1272442613 |
46 | R>G | No |
ClinGen TOPMed |
|
|
CA399023231 rs1465221378 |
47 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA289394619 rs111969582 |
48 | T>A | No |
ClinGen Ensembl |
|
|
CA8489383 rs146195806 |
49 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146195806 CA8489384 |
49 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377073088 CA8489382 |
51 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8489381 rs377073088 |
51 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA289394566 rs932115686 |
51 | K>R | No |
ClinGen Ensembl |
|
|
rs760868998 CA8489380 |
52 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289394556 rs903314050 |
52 | E>K | No |
ClinGen TOPMed |
|
|
CA289394533 rs535101116 |
54 | F>L | No |
ClinGen TOPMed |
|
|
CA289394529 rs1037644709 |
55 | I>N | No |
ClinGen Ensembl |
|
|
CA8489360 rs759383567 |
62 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489358 rs576422881 |
66 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489357 rs762106393 |
69 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs768852358 CA8489355 |
69 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs3760454 CA399022122 |
69 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3760454 CA399022123 |
69 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_026668 rs3760454 CA8489356 |
69 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA289391028 rs113806075 |
70 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 70 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763429393 CA8489354 |
72 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA399022061 rs1168154867 |
73 | T>I | No |
ClinGen TOPMed |
|
|
CA8489339 rs201848137 |
74 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM977537 rs762194464 CA8489338 |
74 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA399022000 rs201848137 |
74 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289390905 rs536396320 |
75 | I>T | No |
ClinGen Ensembl |
|
|
rs751818861 CA8489337 |
75 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289390899 rs994443622 |
77 | Y>S | No |
ClinGen gnomAD |
|
|
rs1243313170 CA399021918 |
78 | S>* | No |
ClinGen TOPMed |
|
|
CA8489335 rs763098162 |
78 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA399021910 rs1278749239 |
79 | F>L | No |
ClinGen gnomAD |
|
|
rs1171039167 CA399021829 |
82 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1402227779 CA399021842 |
82 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8489331 rs202236562 |
88 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs531652947 CA8489330 |
88 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8489332 rs202236562 |
88 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8489329 rs771277196 |
89 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA399021649 rs1459228968 |
90 | H>Q | No |
ClinGen gnomAD |
|
|
CA399021663 rs1212081040 |
90 | H>Y | No |
ClinGen gnomAD |
|
|
rs775119896 CA399021641 |
91 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775119896 CA8489327 |
91 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489328 rs746719051 |
91 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8489326 rs771588562 |
92 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1234574561 CA399021510 |
97 | Q>H | No |
ClinGen gnomAD |
|
|
CA399021503 rs1331197576 |
98 | R>C | No |
ClinGen gnomAD |
|
|
rs1299938494 CA399021494 |
98 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM223867 rs747717916 CA8489324 |
99 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1378580837 CA399021479 |
99 | A>V | No |
ClinGen gnomAD |
|
|
rs1337638253 CA399021464 |
100 | S>L | No |
ClinGen TOPMed |
|
|
CA399021453 rs1331597316 |
101 | A>E | No |
ClinGen gnomAD |
|
|
rs1394034886 CA399021414 |
103 | W>C | No |
ClinGen gnomAD |
|
|
rs778267043 CA8489323 |
103 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1309588184 COSM1382254 CA399020784 |
106 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs777105019 CA8489311 |
110 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA289389434 rs374174017 |
113 | Y>C | No |
ClinGen ESP gnomAD |
|
|
rs374174017 CA399020585 |
113 | Y>F | No |
ClinGen ESP gnomAD |
|
|
rs1401340374 CA399020611 |
113 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399020553 rs1380972169 |
115 | A>V | No |
ClinGen gnomAD |
|
|
CA399020523 rs1158293002 |
117 | C>S | No |
ClinGen gnomAD |
|
|
rs566763795 CA8489308 |
120 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399020423 rs566763795 |
120 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771809602 CA8489307 |
120 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1000788390 CA289389081 |
121 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399020323 rs1000788390 |
121 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8489290 rs773668903 |
122 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs761150467 CA8489291 |
122 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs767769935 CA8489288 |
124 | T>N | No |
ClinGen ExAC |
|
|
CA399020255 rs1598116347 |
125 | R>* | No |
ClinGen Ensembl |
|
|
rs149514713 CA399020234 |
125 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149514713 CA8489287 |
125 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8489286 rs773891073 |
126 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA399020185 rs1598116326 |
129 | V>G | No |
ClinGen Ensembl |
|
|
rs768289161 CA8489285 |
130 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8489284 rs748837752 |
132 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8489283 rs775090242 |
133 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_049322 rs34859443 CA8489281 |
134 | L>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781104096 CA8489280 |
134 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489279 rs756984797 COSM977536 |
135 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1324514348 CA399020045 |
139 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1404937381 CA399020016 |
141 | P>L | No |
ClinGen gnomAD |
|
|
rs749511728 CA399019981 |
142 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489277 rs201757154 |
142 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749511728 CA8489255 |
142 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399019977 rs1250822828 |
143 | L>* | No |
ClinGen gnomAD |
|
|
rs201254967 CA8489254 |
144 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458086705 CA399019959 |
145 | I>T | No |
ClinGen gnomAD |
|
|
CA289386950 rs756200648 |
146 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8489253 rs756200648 |
146 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8489252 rs750452979 |
148 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289386931 rs368540886 |
148 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA399019941 rs750452979 |
148 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 150 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195318890 CA399019919 |
151 | E>G | No |
ClinGen TOPMed |
|
|
CA399019912 rs1279443362 |
152 | M>K | No |
ClinGen gnomAD |
|
|
rs1313817039 CA399019914 |
152 | M>V | No |
ClinGen gnomAD |
|
|
rs139868836 CA8489251 |
155 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8489250 rs139868836 |
155 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs922137873 CA289386925 |
155 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751917028 CA8489249 |
157 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8489248 rs764522075 |
159 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8489246 rs188357533 |
161 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758970653 CA8489244 |
162 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776164884 CA8489243 |
163 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489242 rs770826025 |
163 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141480679 CA8489238 |
167 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780260167 CA8489237 |
167 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs199527189 CA8489235 |
168 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8489233 rs199527189 |
168 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8489234 rs199527189 COSM977535 |
168 | A>T | Variant assessed as Somatic; 4.635e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs747546566 CA8489232 |
168 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489231 rs138291704 |
170 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8489230 rs200732643 |
170 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753040642 CA8489229 |
171 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1241148967 CA399019803 |
171 | F>L | No |
ClinGen gnomAD |
|
|
rs765010529 CA8489228 |
173 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754607083 CA8489227 |
174 | E>* | No |
ClinGen ExAC |
|
|
rs1403627483 CA399019773 |
175 | C>Y | No |
ClinGen gnomAD |
|
|
rs1261686753 CA399019766 |
176 | P>L | No |
ClinGen TOPMed |
|
|
rs1567789869 CA399019759 |
177 | K>R | No |
ClinGen Ensembl |
|
|
rs1230451939 CA399019749 |
179 | Y>H | No |
ClinGen gnomAD |
|
|
CA8489213 rs147043256 |
182 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399019707 rs1453931585 |
183 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 184 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399019686 rs1450060522 |
185 | M>I | No |
ClinGen TOPMed |
|
|
CA399019692 rs1380982417 |
185 | M>V | No |
ClinGen TOPMed |
|
|
CA289385083 rs201293446 |
188 | M>V | No |
ClinGen 1000Genomes |
|
|
rs569017892 CA8489210 |
189 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399019661 rs1286810506 |
189 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs569017892 CA8489211 |
189 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8489207 rs753520031 |
194 | R>T | No |
ClinGen ExAC |
|
|
CA8489206 rs765893871 |
195 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs755655166 CA8489205 |
197 | K>E | No |
ClinGen ExAC |
|
|
CA8489201 rs142388164 CA8489202 |
197 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8489203 rs151277876 |
197 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200394185 CA289385017 |
198 | E>A | No |
ClinGen 1000Genomes |
|
|
CA8489199 rs774169826 |
203 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs763943203 CA8489198 |
204 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1193177000 CA399019559 COSM4151578 |
204 | S>N | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA399019558 rs1193177000 |
204 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA289385013 rs916073352 |
205 | M>I | No |
ClinGen TOPMed |
|
|
rs1183285584 CA399019549 |
205 | M>R | No |
ClinGen TOPMed |
|
|
rs759734872 CA8489197 |
206 | D>N | No |
ClinGen ExAC gnomAD |
|
| rs1378874449 | 208 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs972855138 CA289384288 |
209 | N>Y | No |
ClinGen TOPMed |
|
|
CA8489179 rs763880502 |
210 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489178 rs762808353 |
212 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs752391329 CA8489177 |
214 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8489176 rs536034624 |
215 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8489175 rs536034624 |
215 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773495912 CA8489174 |
218 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399019441 rs113683685 |
220 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000966507 CA8489171 rs113683685 |
220 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs113683685 CA289384224 |
220 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399019426 rs1364749050 |
222 | A>T | No |
ClinGen gnomAD |
|
|
CA399019414 rs1423571216 |
223 | W>C | No |
ClinGen TOPMed |
|
|
CA399019395 rs1353347641 |
226 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs780261219 CA8489168 |
229 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs769478212 CA8489167 |
231 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375397400 CA8489166 |
232 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780736639 CA8489165 |
232 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1373303263 CA399019355 |
232 | I>T | No |
ClinGen TOPMed |
|
|
rs375397400 CA399019356 |
232 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1238146960 CA399019336 |
235 | G>C | No |
ClinGen gnomAD |
|
|
CA8489148 rs775987500 |
235 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs372541961 CA289383226 |
236 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770128832 CA399019291 |
239 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399019288 rs1458362319 |
240 | V>E | No |
ClinGen gnomAD |
|
|
CA8489146 rs746173324 |
240 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776269928 CA8489145 |
241 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs146623373 CA8489144 |
244 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146623373 CA399019265 |
244 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs539855524 CA289383202 |
246 | A>P | No |
ClinGen Ensembl |
|
|
rs1346507958 CA399019247 |
247 | Q>R | No |
ClinGen TOPMed |
|
|
CA8489142 rs777121935 |
248 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 249 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs903674967 CA289383200 |
253 | K>R | No |
ClinGen Ensembl |
|
|
CA8489141 rs758399480 |
254 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA289383193 rs1043551907 |
254 | D>N | No |
ClinGen Ensembl |
|
|
CA8489140 rs748025691 |
255 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1598109131 CA399019184 |
257 | K>E | No |
ClinGen Ensembl |
|
|
CA289383162 rs201823042 |
257 | K>R | No |
ClinGen 1000Genomes |
|
|
CA399019174 rs1274644870 |
258 | E>A | No |
ClinGen gnomAD |
|
|
rs1350105759 CA399018945 |
263 | L>P | No |
ClinGen gnomAD |
|
|
rs1304509988 CA399018940 |
264 | Q>R | No |
ClinGen gnomAD |
|
|
rs1233784797 CA399018932 |
265 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs771498680 CA8489122 |
266 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs371147186 CA8489121 |
267 | H>P | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 274 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754915003 CA8489119 |
276 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA8489117 rs779965805 |
280 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs865807343 CA289431741 |
280 | R>L | No |
ClinGen Ensembl |
|
|
CA399018831 rs1396308013 |
281 | E>K | No |
ClinGen gnomAD |
|
|
rs147328342 CA8489116 |
282 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8489115 rs751716191 |
283 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764318037 CA8489114 |
283 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA399018818 rs1393051453 |
283 | E>K | No |
ClinGen gnomAD |
|
|
CA8489113 rs200620009 |
287 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8489112 rs752733689 |
288 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA399018741 rs1486708647 |
291 | Q>* | No |
ClinGen gnomAD |
|
|
CA399018743 rs1486708647 |
291 | Q>K | No |
ClinGen gnomAD |
|
|
rs1281082485 CA399018733 |
292 | P>A | No |
ClinGen gnomAD |
|
|
rs976553577 CA289431712 |
292 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765751480 CA8489111 |
294 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA399018706 rs963904092 |
294 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA289431701 rs963904092 |
294 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1373019655 CA399018660 |
296 | Q>H | No |
ClinGen gnomAD |
|
|
CA8489110 rs201014530 |
297 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1261722034 CA399018647 |
297 | A>V | No |
ClinGen TOPMed |
|
|
rs777017028 CA8489109 |
299 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1018187555 CA289431693 |
300 | V>M | No |
ClinGen TOPMed |
|
|
rs1005508284 CA289431686 |
301 | E>V | No |
ClinGen TOPMed |
|
|
CA8489107 rs761044698 |
303 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399018537 rs201792460 |
304 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8489105 rs201792460 |
304 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8489106 rs772746694 |
304 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1406916928 CA399018495 |
306 | E>V | No |
ClinGen gnomAD |
|
|
rs139786553 CA289431638 |
307 | E>D | No |
ClinGen ESP |
|
|
CA289431640 rs1008206497 |
307 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8489104 rs761255705 |
309 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA8489103 rs146176883 |
312 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA728072134 rs1251478204 |
313 | Y>* | No |
ClinGen Ensembl |
|
|
rs780055608 CA8489100 |
317 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8489099 rs769487517 |
318 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316727219 CA399018282 |
319 | T>A | No |
ClinGen gnomAD |
|
|
CA289431577 rs1046142079 |
321 | P>A | No |
ClinGen TOPMed |
|
|
rs929454315 CA289431569 |
321 | P>L | No |
ClinGen Ensembl |
|
|
CA8489097 rs542178063 |
323 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs762580181 CA8489067 |
325 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs763771062 CA8489068 |
325 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751272765 CA8489069 |
325 | M>V | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1306386331 CA625489029 |
326 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA8489065 rs765132074 |
328 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8489063 rs536439152 |
329 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8489064 rs369955695 |
329 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399017888 rs1487114302 |
330 | I>M | No |
ClinGen TOPMed |
|
|
CA8489062 rs573703555 |
331 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 333 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399017847 rs1247434677 |
333 | C>S | No |
ClinGen TOPMed |
|
|
CA399017832 rs1461832438 |
334 | L>S | No |
ClinGen TOPMed |
|
|
rs1185574638 CA399017810 |
335 | E>G | No |
ClinGen TOPMed |
|
|
rs1598103934 CA399017770 |
337 | F>C | No |
ClinGen Ensembl |
|
|
rs185388825 CA8489060 |
338 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs185388825 CA8489061 |
338 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399017745 rs1383607841 |
339 | K>E | No |
ClinGen TOPMed |
|
|
CA8489058 rs749419856 |
342 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1388349837 CA399017681 |
342 | N>S | No |
ClinGen gnomAD |
|
|
CA289430333 rs892177591 |
344 | G>V | No |
ClinGen TOPMed |
|
|
rs1454824456 CA399017627 |
345 | F>L | No |
ClinGen gnomAD |
|
|
CA8489056 rs756651290 |
346 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8489055 rs79809527 |
348 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1421249928 CA399017577 |
349 | K>E | No |
ClinGen gnomAD |
|
|
rs1421249928 CA399017575 |
349 | K>Q | No |
ClinGen gnomAD |
|
|
rs769933589 CA8489036 |
353 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA399017392 rs1349789085 |
354 | T>I | No |
ClinGen TOPMed |
|
|
rs1349789085 CA399017396 |
354 | T>N | No |
ClinGen TOPMed |
|
|
rs745871937 CA8489035 |
357 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs781737053 CA8489034 |
358 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs188945229 CA8489033 |
359 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747423519 CA8489032 |
359 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA399017345 rs1290669213 |
360 | K>N | No |
ClinGen TOPMed |
|
|
rs995816638 CA289430011 |
362 | H>Q | No |
ClinGen TOPMed |
|
|
rs758191630 CA8489030 |
362 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1354883403 CA399017308 |
366 | L>F | No |
ClinGen gnomAD |
|
|
COSM293104 rs1598103405 CA399017294 |
368 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 369 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 374 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753239778 CA8489026 |
374 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760575975 CA8489024 CA8489025 |
375 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA399016630 rs1037522835 |
377 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1037522835 CA289428452 |
377 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs569963907 CA8489010 |
378 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754565341 CA289428445 COSM3421399 |
378 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs569963907 CA8489011 |
378 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754565341 CA8489009 |
378 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA8489006 rs756106648 |
381 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA399016599 rs1214273836 |
382 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs556567297 CA8489005 |
383 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8489004 rs745939949 |
385 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs751261814 CA8489002 |
388 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA399016559 rs751261814 |
388 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA399016547 rs1359425221 |
390 | E>D | No |
ClinGen gnomAD |
|
|
CA399016542 rs1297160070 |
391 | V>E | No |
ClinGen gnomAD |
|
|
CA399016531 rs1226375280 |
393 | V>L | No |
ClinGen gnomAD |
|
|
CA8489001 rs765541561 |
399 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1304563541 CA399016482 |
400 | R>S | No |
ClinGen gnomAD |
|
|
rs1372052514 CA399016453 |
405 | M>V | No |
ClinGen TOPMed |
|
|
CA289428403 rs1047144544 |
406 | W>C | No |
ClinGen gnomAD |
|
|
rs199600351 CA8488998 |
407 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399016427 rs1167570263 |
408 | L>P | No |
ClinGen gnomAD |
|
|
CA289428398 rs957247100 |
411 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA289428395 rs77929397 |
412 | V>G | No |
ClinGen TOPMed |
|
|
CA399016404 rs773858183 CA8488996 |
412 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8488995 rs748597148 |
414 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8488993 rs779117339 |
415 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8488992 rs768421985 |
416 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 417 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438471044 CA399016377 |
417 | K>E | No |
ClinGen gnomAD |
|
|
CA399016371 rs1273960973 |
417 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA289428377 rs779627678 CA8488991 |
421 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8488990 rs779627678 |
421 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA399016342 rs1350384318 |
422 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755629932 CA8488989 |
422 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8488988 rs745344623 |
423 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs150542174 CA8488985 |
428 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150542174 CA8488984 |
428 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1281791845 CA399016299 |
428 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs150542174 CA8488986 |
428 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA289428335 rs982757388 |
429 | F>S | No |
ClinGen Ensembl |
|
|
rs367871436 CA289428305 |
431 | H>R | No |
ClinGen Ensembl |
|
|
CA8488982 rs755284760 |
432 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399016273 rs1176320299 |
433 | K>Q | No |
ClinGen gnomAD |
|
|
CA8488981 rs754126186 |
434 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8488957 rs761895113 |
439 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267604797 CA289427481 |
443 | S>F | No |
ClinGen gnomAD |
|
|
CA8488956 rs774728283 |
447 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs763332420 CA8488954 |
449 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs374155003 CA8488953 |
450 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235611713 CA399016143 |
450 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs374155003 CA399016139 |
450 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866607239 CA289427462 |
451 | A>S | No |
ClinGen gnomAD |
|
|
rs866607239 CA399016138 |
451 | A>T | No |
ClinGen gnomAD |
|
|
CA289427458 rs866112234 |
451 | A>V | No |
ClinGen gnomAD |
|
|
rs1376568429 CA399016125 |
453 | S>G | No |
ClinGen gnomAD |
|
|
CA399016114 rs1425850603 |
454 | Q>R | No |
ClinGen TOPMed |
|
|
rs769474059 CA8488952 |
456 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs538312192 CA289427443 |
457 | T>A | No |
ClinGen 1000Genomes |
|
|
CA399016090 rs1567780112 |
458 | E>K | No |
ClinGen Ensembl |
|
|
CA399016080 rs1435615949 |
459 | A>S | No |
ClinGen gnomAD |
|
|
rs776259103 CA8488950 |
460 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs748087505 CA8488926 |
464 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289427310 rs911119333 |
464 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1048335945 CA399016006 |
469 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8488924 rs768576449 |
469 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375793542 CA8488925 |
469 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1048335945 CA289427307 |
469 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1340054753 CA399015962 |
476 | L>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 477 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245779772 CA399015942 |
479 | K>E | No |
ClinGen TOPMed |
|
|
rs371673397 CA8488919 |
482 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371673397 CA399015922 |
482 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1369017913 CA399015908 |
483 | W>C | No |
ClinGen gnomAD |
|
|
CA399015901 rs1207892874 |
484 | A>V | No |
ClinGen TOPMed |
|
|
rs773706341 CA8488918 COSM977532 |
486 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773706341 CA289427275 |
486 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765665411 CA8488916 |
486 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM184320 CA8488917 rs765665411 |
486 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA399015888 rs1197408528 |
487 | S>N | No |
ClinGen gnomAD |
|
|
rs759849700 CA8488915 |
489 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399015876 rs1598098928 |
489 | G>S | No |
ClinGen Ensembl |
|
|
rs754180295 CA8488914 |
491 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765995552 CA8488913 |
492 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA399015844 rs1243490265 |
494 | R>G | No |
ClinGen Ensembl |
|
|
rs1187779732 CA399015834 |
495 | A>G | No |
ClinGen TOPMed |
|
|
rs367840485 CA8488912 |
496 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA289424095 rs1038913456 |
500 | L>S | No |
ClinGen Ensembl |
|
|
rs541168861 CA8488887 |
502 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572461469 CA8488885 COSM3387787 |
504 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs572461469 CA289424090 |
504 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8488884 rs141710819 |
504 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772231800 CA8488883 |
506 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8488882 rs748276640 |
508 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 509 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 512 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 512 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8488881 rs778932634 |
515 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA399015368 rs1322484075 |
516 | Q>H | No |
ClinGen gnomAD |
|
|
rs984989394 CA289424067 |
517 | F>S | No |
ClinGen TOPMed |
|
|
rs555519103 CA8488880 |
520 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539111208 CA399015343 |
520 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs539111208 CA289424063 |
520 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 521 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399015287 rs1304013408 |
525 | N>S | No |
ClinGen TOPMed |
|
|
CA8488866 rs759347495 |
526 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA399015278 rs1226726149 |
526 | M>T | No |
ClinGen gnomAD |
|
|
CA8488865 rs776386716 |
527 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762017108 CA8488863 |
529 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330024986 CA399015234 |
530 | R>G | No |
ClinGen gnomAD |
|
|
CA8488862 rs774500050 |
530 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431066932 CA399015225 |
530 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 531 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8488860 rs749289159 |
533 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs780634050 CA8488859 |
535 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399015162 rs1567774576 |
536 | A>T | No |
ClinGen Ensembl |
|
|
CA8488858 rs770182274 |
536 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8488857 rs746276896 |
538 | R>G | No |
ClinGen ExAC |
|
|
CA8488854 rs757031414 |
543 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8488853 rs147417068 |
544 | D>G | No |
ClinGen ESP ExAC |
|
| TCGA novel | 544 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399014824 rs1286820711 |
546 | D>E | No |
ClinGen gnomAD |
|
|
rs1299115631 CA399014827 |
546 | D>G | No |
ClinGen TOPMed |
|
|
CA399014823 rs1180319359 |
547 | L>F | No |
ClinGen gnomAD |
|
|
rs1180319359 CA399014821 |
547 | L>V | No |
ClinGen gnomAD |
|
|
CA399014812 rs1399180852 |
548 | W>* | No |
ClinGen TOPMed |
|
|
CA399014797 rs1408574494 |
550 | D>N | No |
ClinGen TOPMed |
|
|
rs747335374 CA8488828 |
552 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs771422115 CA8488829 |
552 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs777500047 CA8488827 |
553 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752289742 CA8488825 |
558 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1270588091 CA399014736 |
558 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399014728 rs1329267763 |
559 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 559 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778282945 CA8488824 |
561 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200802612 CA289420646 |
562 | R>K | No |
ClinGen 1000Genomes |
|
|
CA289420639 rs943253628 |
563 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753780409 CA8488821 |
566 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA8488822 rs201762567 |
566 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1322500996 CA399014678 |
567 | G>V | No |
ClinGen gnomAD |
|
|
rs924815751 CA289420614 |
568 | Q>H | No |
ClinGen TOPMed |
|
|
rs766265317 CA8488820 |
569 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8488819 rs199655991 |
572 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399014644 rs909046283 |
572 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA289420600 rs909046283 |
572 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs750165197 CA399014639 |
573 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750165197 COSM977531 CA8488818 |
573 | A>V | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1250237694 CA399014577 |
581 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 582 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763083700 CA8488816 |
583 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1464876415 CA399014559 |
584 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1464876415 CA399014560 |
584 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1598089523 CA399014553 |
585 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 586 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8488815 rs536356581 |
587 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399014519 rs1312995319 |
590 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8488813 rs759619796 |
590 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA399014518 rs1312995319 |
590 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399014512 rs1380334913 |
591 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8488811 rs142869504 |
591 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771513885 CA8488810 |
592 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs567410999 CA8488809 |
592 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399014490 rs1168478878 |
594 | T>I | No |
ClinGen TOPMed |
|
|
CA289420505 rs1022754946 |
595 | G>S | No |
ClinGen TOPMed |
|
|
rs771824075 CA8488807 |
598 | L>G | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9NYH9
7 regional properties for Q9NYH9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | HAT (Half-A-TPR) repeat | 87 - 119 | IPR003107-1 |
| repeat | HAT (Half-A-TPR) repeat | 121 - 153 | IPR003107-2 |
| repeat | HAT (Half-A-TPR) repeat | 156 - 188 | IPR003107-3 |
| repeat | HAT (Half-A-TPR) repeat | 304 - 335 | IPR003107-4 |
| repeat | HAT (Half-A-TPR) repeat | 452 - 486 | IPR003107-5 |
| repeat | HAT (Half-A-TPR) repeat | 488 - 520 | IPR003107-6 |
| repeat | HAT (Half-A-TPR) repeat | 524 - 557 | IPR003107-7 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| Pwp2p-containing subcomplex of 90S preribosome | A protein complex that forms a subcomplex of the 90S preribosome and can interact directly with the 5' External Transcribed Spacer (ETS) of the full length pre-rRNA transcript. In S. cerevisiae, it sediments at 25-30 S and is composed of Pwp2p, Dip2p, Utp21p, Utp13p, Utp18p, and Utp6p. |
| small-subunit processome | A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| snoRNA binding | Binding to a small nucleolar RNA. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and the Large Subunit (LSU) in that order from 5' to 3' along the primary transcript. |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEIIQERIE | DRLPELEQLE | RIGLFSHAEI | KAIIKKASDL | EYKIQRRTLF | KEDFINYVQY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EINLLELIQR | RRTRIGYSFK | KDEIENSIVH | RVQGVFQRAS | AKWKDDVQLW | LSYVAFCKKW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ATKTRLSKVF | SAMLAIHSNK | PALWIMAAKW | EMEDRLSSES | ARQLFLRALR | FHPECPKLYK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EYFRMELMHA | EKLRKEKEEF | EKASMDVENP | DYSEEILKGE | LAWIIYKNSV | SIIKGAEFHV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLLSIAQLFD | FAKDLQKEIY | DDLQALHTDD | PLTWDYVARR | ELEIESQTEE | QPTTKQAKAV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EVGRKEERCC | AVYEEAVKTL | PTEAMWKCYI | TFCLERFTKK | SNSGFLRGKR | LERTMTVFRK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AHELKLLSEC | QYKQLSVSLL | CYNFLREALE | VAVAGTELFR | DSGTMWQLKL | QVLIESKSPD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IAMLFEEAFV | HLKPQVCLPL | WISWAEWSEG | AKSQEDTEAV | FKKALLAVIG | ADSVTLKNKY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LDWAYRSGGY | KKARAVFKSL | QESRPFSVDF | FRKMIQFEKE | QESCNMANIR | EYYERALREF |
| 550 | 560 | 570 | 580 | 590 | |
| GSADSDLWMD | YMKEELNHPL | GRPENCGQIY | WRAMKMLQGE | SAEAFVAKHA | MHQTGHL |