Q9NWM0
Gene name |
SMOX (C20orf16, SMO, UNQ3039/PRO9854) |
Protein name |
Spermine oxidase |
Names |
Polyamine oxidase 1, PAO-1, PAOh1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54498 |
EC number |
1.5.3.16: With oxygen as acceptor |
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
3 structures for Q9NWM0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7OXL | X-ray | 240 A | PDB | ||
| 7OY0 | X-ray | 209 A | PDB | ||
| AF-Q9NWM0-F1 | Predicted | AlphaFoldDB |
418 variants for Q9NWM0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs776144691 CA9751192 |
3 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs759132180 CA9751193 |
6 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs759132180 CA408138796 |
6 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs755980359 CA408138813 |
7 | S>C | No |
ClinGen gnomAD |
|
|
rs755980359 CA311052392 |
7 | S>R | No |
ClinGen gnomAD |
|
|
CA9751194 rs138030828 |
7 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1481846199 CA408138879 |
9 | D>H | No |
ClinGen TOPMed |
|
|
CA9751195 rs200004139 |
10 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408138900 rs200004139 |
10 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1158362889 CA408138921 |
11 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408138918 rs1210830438 |
11 | A>S | No |
ClinGen TOPMed |
|
|
rs1158362889 CA408138922 |
11 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1600816398 CA408138960 |
13 | D>A | No |
ClinGen Ensembl |
|
|
rs751519671 CA9751198 |
15 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA408139058 rs1445629481 |
17 | R>C | No |
ClinGen gnomAD |
|
|
rs138666566 CA9751199 |
17 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408139065 rs138666566 |
17 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763892702 CA311052496 |
18 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763892702 CA9751202 |
18 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3963580 CA408139115 COSM3963579 rs1240159183 |
20 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1734501 CA408139110 rs1199337500 COSM1734502 |
20 | R>W | pancreas Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 21 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs568692615 CA9751205 |
21 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778043303 CA9751206 |
24 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747481916 CA9751207 |
26 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9751208 rs771415602 |
26 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777240060 CA311052581 |
28 | V>L | No |
ClinGen Ensembl |
|
|
rs1600816483 CA408139351 |
29 | V>G | No |
ClinGen Ensembl |
|
|
CA9751211 COSM3707773 COSM3707774 rs1555815236 |
32 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA311052633 rs954631668 |
34 | L>F | No |
ClinGen Ensembl |
|
|
rs1253028821 CA408139621 |
39 | A>V | No |
ClinGen TOPMed |
|
|
CA9751215 rs368649029 |
41 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9751216 rs763986370 |
43 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9751217 rs763986370 |
43 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 44 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 47 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 49 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408139864 rs1380262910 |
49 | T>M | No |
ClinGen gnomAD |
|
|
CA9751219 rs370952502 |
50 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9751220 rs750300184 |
52 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9751221 rs755101351 |
55 | E>G | No |
ClinGen ExAC |
|
|
CA408140031 rs1260031190 |
57 | S>F | No |
ClinGen gnomAD |
|
|
rs765294854 CA9751222 |
57 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA311052697 rs886262843 |
58 | S>N | No |
ClinGen Ensembl |
|
|
CA408140064 rs1316172739 |
58 | S>R | No |
ClinGen gnomAD |
|
|
CA9751223 rs139112875 |
60 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408140156 rs1179876191 |
63 | R>C | No |
ClinGen gnomAD |
|
|
CA408140158 rs1179876191 |
63 | R>G | No |
ClinGen gnomAD |
|
|
CA408140164 rs1255260823 |
63 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1478082284 CA408140175 |
64 | V>M | No |
ClinGen gnomAD |
|
|
rs1195778914 CA408140206 |
65 | Q>R | No |
ClinGen gnomAD |
|
|
rs1600816658 CA408140237 |
66 | S>R | No |
ClinGen Ensembl |
|
|
CA311052728 rs768213792 |
69 | L>R | No |
ClinGen Ensembl |
|
|
rs370365021 CA408141227 CA408141223 |
71 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141615452 CA408141235 |
72 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141615452 CA9751246 |
72 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141615452 CA9751245 |
72 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA311054734 rs374652818 |
72 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA408141269 rs1366232539 |
73 | T>I | No |
ClinGen TOPMed |
|
|
rs1466325645 CA408141347 |
75 | E>D | No |
ClinGen gnomAD |
|
|
CA311054755 rs972488683 |
76 | L>V | No |
ClinGen Ensembl |
|
|
CA408141568 rs1354770777 |
85 | H>N | No |
ClinGen gnomAD |
|
|
rs150504374 CA311054766 |
85 | H>R | No |
ClinGen ESP gnomAD |
|
|
rs750973072 CA9751249 |
89 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311054815 rs867676554 |
90 | Y>C | No |
ClinGen Ensembl |
|
|
CA408141733 rs1247897099 |
91 | H>N | No |
ClinGen gnomAD |
|
|
CA9751250 rs756632480 |
92 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1190209335 CA408141841 |
95 | A>T | No |
ClinGen gnomAD |
|
|
rs779734758 CA9751251 |
96 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377708564 CA9751252 |
97 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1600819302 CA408141873 |
98 | L>I | No |
ClinGen Ensembl |
|
|
CA311054890 rs764802450 |
100 | E>K | No |
ClinGen Ensembl |
|
|
rs938873488 CA311054898 |
101 | E>Q | No |
ClinGen Ensembl |
|
|
rs1015596749 CA311054915 |
104 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9751254 rs564856867 |
105 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9751255 rs747745458 |
107 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325373749 CA408142138 |
107 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs371076115 CA9751256 |
108 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs186455590 CA9751257 |
109 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA408142158 rs1228757533 |
110 | G>D | No |
ClinGen gnomAD |
|
|
CA408142154 rs1349718677 |
110 | G>S | No |
ClinGen gnomAD |
|
|
CA9751258 rs760624917 |
111 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA311054950 rs949008536 |
111 | R>H | No |
ClinGen gnomAD |
|
|
CA9751259 rs770811543 |
114 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs776517863 CA9751260 |
117 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9751261 rs763069710 |
118 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA408142216 rs1469948535 |
119 | G>D | No |
ClinGen gnomAD |
|
|
CA311055003 rs375716040 |
120 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375716040 CA9751262 |
120 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9751263 rs753048218 |
121 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600819485 CA408142229 |
122 | C>S | No |
ClinGen Ensembl |
|
|
rs1385610213 CA408142235 |
123 | Y>H | No |
ClinGen TOPMed |
|
|
CA311055052 rs948889338 |
124 | L>I | No |
ClinGen TOPMed |
|
|
rs767939611 CA9751265 |
125 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1448480627 CA408142254 |
126 | N>D | No |
ClinGen gnomAD |
|
|
CA408142256 rs1285798823 |
126 | N>S | No |
ClinGen gnomAD |
|
|
CA9751268 rs780749483 |
128 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147730753 CA9751269 |
129 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147730753 CA9751270 |
129 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9751271 COSM1026921 COSM1026922 rs370515510 |
129 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA311055123 rs370515510 |
129 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370515510 CA408142274 |
129 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408142283 rs1442701128 |
131 | I>V | No |
ClinGen gnomAD |
|
|
rs747846684 CA9751273 |
132 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9751272 rs747846684 |
132 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9751275 rs746843739 |
135 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1187896378 CA408142314 |
136 | V>I | No |
ClinGen gnomAD |
|
|
CA408142335 rs1424354310 |
138 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs770690584 CA9751276 |
140 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140869535 CA311055207 |
140 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9751279 rs768785503 |
145 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs144934870 CA9751298 |
155 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9751297 rs542965046 |
155 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408143274 rs140225529 |
156 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9751299 rs772260115 |
156 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9751301 COSM167013 COSM167014 rs760977109 |
157 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9751303 rs377195026 |
161 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 163 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9751304 rs760116878 |
164 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1454036102 CA408143356 |
168 | V>M | No |
ClinGen gnomAD |
|
|
rs753221843 CA9751306 |
169 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408143368 rs1443730574 |
170 | V>L | No |
ClinGen TOPMed |
|
|
CA408143373 rs1157944535 |
171 | F>V | No |
ClinGen gnomAD |
|
|
rs763589123 CA9751309 |
173 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388006201 CA408143387 |
173 | R>Q | No |
ClinGen gnomAD |
|
|
CA9751310 rs756844158 |
175 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408143409 rs1369765812 |
176 | V>A | No |
ClinGen gnomAD |
|
|
rs750147048 COSM3405094 COSM3405093 CA9751312 |
177 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs562326806 CA9751313 |
177 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1026926 COSM1026925 CA408143449 rs1461074065 |
179 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs779907818 COSM178881 COSM178880 CA9751314 |
179 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA311060029 rs991090030 |
180 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs991090030 CA408143459 |
180 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408143512 rs1600824735 |
183 | D>A | No |
ClinGen Ensembl |
|
|
rs370313611 CA9751316 |
184 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749239484 CA9751315 |
184 | P>T | No |
ClinGen ExAC |
|
|
rs747253706 CA9751318 |
186 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9751319 rs747253706 |
186 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468170400 CA408143611 |
190 | T>A | No |
ClinGen gnomAD |
|
|
CA311060088 rs914250918 |
191 | K>E | No |
ClinGen Ensembl |
|
|
CA408143644 rs147947595 |
192 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201599922 CA9751321 |
192 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201599922 CA408143649 |
192 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9751320 rs147947595 |
192 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770180676 CA9751322 |
195 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1740682 CA9751325 rs372589961 COSM1740681 |
196 | A>S | thyroid haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9751324 rs372589961 |
196 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408143770 rs1160922309 |
198 | I>F | No |
ClinGen gnomAD |
|
|
CA408143852 rs1170718899 |
201 | Y>C | No |
ClinGen Ensembl |
|
|
CA311060270 rs981640735 |
207 | C>Y | No |
ClinGen Ensembl |
|
|
rs766104598 CA9751348 |
208 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1260547374 CA408144120 |
209 | S>G | No |
ClinGen TOPMed |
|
|
rs1305957463 CA408144209 |
212 | H>Q | No |
ClinGen gnomAD |
|
|
CA408144234 rs1227011365 |
214 | M>T | No |
ClinGen gnomAD |
|
|
CA9751352 rs752664921 |
216 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408144287 rs1488603338 |
218 | S>F | No |
ClinGen gnomAD |
|
|
COSM1026928 CA408144315 rs1427502871 COSM1026927 |
221 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA408144345 rs1378502623 |
223 | G>R | No |
ClinGen gnomAD |
|
|
rs749693796 CA9751358 |
227 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs987012222 CA311060299 |
229 | P>A | No |
ClinGen TOPMed |
|
|
CA408144460 rs1401191212 |
230 | G>D | No |
ClinGen gnomAD |
|
|
CA311060303 rs912776055 |
230 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408144470 rs1159877938 |
231 | A>G | No |
ClinGen TOPMed |
|
|
rs748652848 CA9751361 |
231 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9751363 rs771490241 |
234 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9751365 rs760271089 |
237 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759460337 CA9751368 |
240 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1485261503 CA408144547 |
241 | R>Q | No |
ClinGen gnomAD |
|
|
rs765116817 CA9751369 |
241 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767516409 CA9751372 |
247 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1343445337 CA408144595 |
249 | G>A | No |
ClinGen gnomAD |
|
|
rs1343445337 CA408144596 |
249 | G>V | No |
ClinGen gnomAD |
|
|
CA311060385 rs968828254 |
250 | I>V | No |
ClinGen TOPMed |
|
|
rs756116715 CA9751374 |
251 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1373427554 CA408144610 |
252 | A>D | No |
ClinGen gnomAD |
|
|
CA9751375 rs202222150 |
252 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1373427554 CA408144612 |
252 | A>V | No |
ClinGen gnomAD |
|
|
CA9751378 rs374161474 |
253 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749501428 CA9751376 |
253 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748671422 CA9751379 |
254 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1316327990 CA408144627 |
255 | I>T | No |
ClinGen gnomAD |
|
|
rs45622731 CA9751380 |
255 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9751382 rs141015711 |
262 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776490148 CA9751384 |
262 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9751383 COSM4134562 COSM4134561 rs141015711 |
262 | R>S | thyroid [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1252703582 CA408144677 |
263 | C>F | No |
ClinGen gnomAD |
|
|
rs752255111 CA311060483 |
270 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9751387 rs775375295 |
272 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9751388 rs145030123 COSM419391 COSM419392 |
272 | R>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145030123 CA408144773 |
272 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408144828 rs1462111747 |
277 | E>K | No |
ClinGen TOPMed |
|
|
CA9751392 rs766443432 |
280 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766443432 CA408144881 |
280 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754067325 CA408144883 |
281 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755137940 CA9751394 |
281 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754067325 CA9751393 |
281 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757930768 CA311060586 |
282 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757930768 CA408144897 |
282 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408144892 rs896377132 |
282 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs896377132 CA311060582 |
282 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753023945 CA9751396 |
285 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs887784765 CA408144941 |
285 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA311060615 rs887784765 |
285 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1250439572 CA408144957 |
286 | H>Y | No |
ClinGen TOPMed |
|
|
rs778398126 CA9751398 |
289 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408145009 rs778398126 |
289 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770476968 CA9751400 |
290 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408145028 rs770476968 |
290 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs747463944 CA9751399 |
290 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA311060661 rs747298185 |
292 | E>K | No |
ClinGen Ensembl |
|
|
rs1006599301 CA311060662 |
293 | G>D | No |
ClinGen Ensembl |
|
|
CA408145078 rs1568746924 |
294 | G>D | No |
ClinGen Ensembl |
|
|
CA408145098 rs1470027651 |
297 | G>E | No |
ClinGen gnomAD |
|
|
CA9751403 rs769530935 |
298 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9751402 rs371088693 |
298 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371088693 CA9751401 |
298 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408145122 rs6084654 |
301 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA311060714 rs6084654 VAR_059114 |
301 | R>P | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
COSM380525 rs6084654 CA9751407 |
301 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9751406 COSM1026935 rs145014650 |
301 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs376767598 CA9751408 |
302 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376767598 CA408145124 |
302 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs746816975 | 303 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761590852 CA9751409 |
303 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9751410 rs201267857 |
304 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs746816975 | 304 | R>Q | Variant assessed as Somatic; 4.899e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326562803 CA408145147 |
305 | W>C | No |
ClinGen gnomAD |
|
|
CA408145176 rs1173416133 |
309 | E>G | No |
ClinGen TOPMed |
|
|
CA9751412 rs759789277 |
311 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA9751411 rs753870066 |
311 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA9751413 rs765487941 |
312 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs74994690 CA311060770 |
317 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 318 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9751416 rs777931094 |
318 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1451656008 CA408145275 |
320 | C>G | No |
ClinGen TOPMed |
|
|
rs1271249488 CA408145277 |
320 | C>Y | No |
ClinGen gnomAD |
|
|
COSM1495082 rs199631589 CA9751417 |
322 | L>P | kidney Variant assessed as Somatic; 4.781e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9751418 rs757789023 |
324 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9751419 rs138153642 |
324 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138153642 CA9751420 |
324 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757789023 CA408145329 |
324 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769406294 CA9751421 |
325 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408145360 rs920072700 CA311060831 |
326 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs768504967 CA9751424 |
332 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs761835699 CA9751426 COSM1226883 |
333 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408145466 rs1393298773 |
334 | L>P | No |
ClinGen TOPMed |
|
| VAR_036546 | 340 | Q>K | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1433268013 CA408145592 |
343 | S>G | No |
ClinGen TOPMed |
|
|
rs976528719 CA408145640 |
346 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs143899175 CA9751431 |
346 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9751430 rs143899175 |
346 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs976528719 CA311060923 |
346 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 347 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA311060943 rs1056120663 |
352 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs917615923 CA311060951 |
353 | K>N | No |
ClinGen TOPMed |
|
|
rs751828784 CA9751434 |
353 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs947941287 CA311060957 |
358 | H>R | No |
ClinGen TOPMed |
|
|
CA9751436 rs376713573 |
359 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1026938 CA9751437 COSM1026939 rs148610229 |
359 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148610229 CA408145812 |
359 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9751435 rs376713573 |
359 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408145867 rs1195217785 |
363 | G>D | No |
ClinGen gnomAD |
|
|
CA9751443 rs747982196 |
366 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1398438150 CA408145938 |
368 | I>V | No |
ClinGen gnomAD |
|
|
CA408145965 rs1317081399 |
369 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs147367771 CA9751446 |
373 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769873295 CA9751447 |
375 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1400576613 CA408146090 |
377 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs77612978 CA311061118 |
377 | W>G | No |
ClinGen Ensembl |
|
|
rs1156266405 CA408146106 |
379 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 380 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763266369 CA9751449 |
382 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA408146170 rs1473301125 |
383 | S>G | No |
ClinGen TOPMed |
|
|
CA408146189 rs1412116831 |
384 | L>V | No |
ClinGen TOPMed |
|
|
rs1186776645 CA408146201 |
385 | Q>* | No |
ClinGen TOPMed |
|
|
CA408146207 rs1261824433 |
385 | Q>R | No |
ClinGen gnomAD |
|
|
CA9751450 rs764263169 |
387 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 391 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408146330 rs942313750 |
392 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA311061160 rs942313750 |
392 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA311061176 rs897854422 |
394 | S>R | No |
ClinGen Ensembl |
|
|
rs767990257 CA9751453 |
395 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1453568958 CA408146392 |
396 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1365442931 CA408146406 |
397 | L>V | No |
ClinGen gnomAD |
|
|
rs1157442346 CA408146454 |
400 | P>A | No |
ClinGen gnomAD |
|
|
CA408146470 rs1462641508 |
401 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 404 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA311061225 rs997497140 |
406 | R>C | No |
ClinGen TOPMed |
|
|
CA9751459 rs778483532 |
408 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA408146580 rs1232868800 |
408 | I>V | No |
ClinGen gnomAD |
|
|
CA9751461 rs558532128 |
410 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1338006030 CA408146662 |
412 | D>G | No |
ClinGen gnomAD |
|
|
rs144794871 CA9751465 |
416 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9751464 rs770732127 |
416 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA408146753 rs1468243315 |
418 | E>D | No |
ClinGen gnomAD |
|
|
COSM1026940 rs774503562 CA9751468 COSM1026941 |
419 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9751469 rs762061401 |
419 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408146765 rs139432235 |
420 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408146767 rs1417875745 |
421 | G>S | No |
ClinGen gnomAD |
|
|
CA408146777 rs1475893481 |
422 | H>R | No |
ClinGen gnomAD |
|
|
rs1021460925 CA311061282 |
427 | W>* | No |
ClinGen Ensembl |
|
|
rs754351934 CA9751474 |
430 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs764734071 CA9751476 |
434 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9751477 rs150061281 |
435 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150061281 CA9751478 |
435 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408146872 rs1228468849 |
436 | M>I | No |
ClinGen gnomAD |
|
|
CA9751480 CA408146865 rs751394002 |
436 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs751394002 CA408146866 |
436 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1337217116 CA408146883 |
438 | K>* | No |
ClinGen gnomAD |
|
|
rs1600826540 CA408146886 |
438 | K>M | No |
ClinGen Ensembl |
|
|
CA408146887 rs757052740 CA9751481 |
438 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA408146892 rs781048374 |
439 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1600826572 CA408146894 |
439 | C>W | No |
ClinGen Ensembl |
|
|
rs781048374 CA9751482 |
439 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs745813389 CA9751483 |
440 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs745813389 CA408146895 |
440 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1600826608 CA408146913 |
442 | E>A | No |
ClinGen Ensembl |
|
|
CA408146910 rs1428678929 |
442 | E>K | No |
ClinGen gnomAD |
|
|
rs1172110586 CA408146919 |
443 | A>P | No |
ClinGen gnomAD |
|
|
CA9751485 rs779079367 |
445 | A>S | No |
ClinGen ExAC |
|
|
rs965098133 CA311061364 |
447 | I>M | No |
ClinGen Ensembl |
|
|
CA9751487 rs145064074 |
447 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773539301 CA9751488 |
448 | C>S | No |
ClinGen ExAC |
|
|
rs1376570567 CA408146950 |
448 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1353288563 CA408146956 |
449 | T>A | No |
ClinGen gnomAD |
|
|
CA408146958 rs200727159 |
449 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9751489 rs200727159 |
449 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777005039 CA9751491 |
451 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9751493 rs199700652 |
453 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752161137 CA9751494 |
453 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9751495 rs762416365 |
456 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA408147036 rs1420253080 COSM1026942 COSM1026943 |
459 | P>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1161312789 CA408147043 |
460 | N>S | No |
ClinGen gnomAD |
|
|
rs1456861734 CA408147049 |
461 | I>V | No |
ClinGen gnomAD |
|
|
rs1397048412 CA408147075 |
465 | R>Q | No |
ClinGen gnomAD |
|
|
rs1014534074 CA311062161 |
465 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753767021 CA9751523 |
466 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274081760 CA408147092 |
468 | L>S | No |
ClinGen gnomAD |
|
|
rs534746380 CA311062166 |
469 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9751524 rs758552152 |
469 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9751525 rs777990952 |
470 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9751528 rs140594899 |
471 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 473 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145492779 CA9751531 |
476 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6037782 CA9751532 |
476 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6037782 CA311062227 |
476 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145492779 CA9751529 |
476 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145492779 CA9751530 |
476 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9751534 rs201219336 |
477 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9751533 rs201219336 |
477 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408147145 rs201219336 |
477 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1246510275 CA408147155 |
478 | F>L | No |
ClinGen gnomAD |
|
|
rs145519721 CA9751535 |
479 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767227934 CA9751536 |
479 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9751538 rs760556639 |
480 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408147184 rs1162330172 |
483 | S>L | No |
ClinGen TOPMed |
|
|
rs754948708 CA9751541 |
485 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9751542 rs764313286 |
485 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1188148140 CA408147213 |
488 | G>S | No |
ClinGen TOPMed |
|
|
CA408147225 rs1446370390 |
490 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408147224 rs1446370390 |
490 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 491 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408147231 rs1330034249 |
491 | G>R | No |
ClinGen TOPMed |
|
|
CA311062306 rs1049711750 |
492 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781491758 CA9751545 |
492 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408147239 rs1049711750 |
492 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408147252 rs1600827682 |
494 | V>G | No |
ClinGen Ensembl |
|
|
rs1294645351 COSM478174 COSM478175 CA408147249 |
494 | V>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs780383074 COSM1026947 CA9751548 COSM1026946 |
495 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1227412872 CA408147274 |
497 | L>R | No |
ClinGen gnomAD |
|
|
rs749842121 CA9751549 |
499 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408147301 rs1430576325 |
502 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA311062320 rs1005183806 |
502 | P>S | No |
ClinGen Ensembl |
|
|
rs779246435 CA9751551 |
504 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9751553 rs771422876 |
505 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772918286 CA9751554 |
506 | S>R | No |
ClinGen ExAC |
|
|
CA408147350 rs1188690027 |
509 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408147354 rs760395151 |
510 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 510 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760395151 CA9751555 |
510 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780837040 CA408147587 |
512 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780837040 CA9751609 |
512 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745584278 CA9751610 |
513 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA311065035 rs1021263162 |
514 | V>L | No |
ClinGen TOPMed |
|
|
CA408147618 rs1568750987 |
517 | S>A | No |
ClinGen Ensembl |
|
|
rs779717057 CA9751612 |
518 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA408147624 rs779717057 |
518 | G>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1411891 COSM1411892 CA311065047 rs370133256 |
518 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
CA408147640 rs1600831604 |
521 | T>P | No |
ClinGen Ensembl |
|
| VAR_019531 | 522 | H>Y | No | UniProt | |
|
COSM1026950 CA9751613 COSM1026949 rs749058005 |
523 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9751614 rs768438474 |
523 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774273790 CA9751615 |
525 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs748070472 CA9751616 |
527 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1162268652 CA408147702 |
530 | H>R | No |
ClinGen gnomAD |
|
|
rs1457713610 CA408147706 |
531 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1399202677 CA408147726 |
534 | L>P | No |
ClinGen gnomAD |
|
|
rs1428421801 CA408147733 |
535 | S>F | No |
ClinGen gnomAD |
|
|
CA408147736 COSM1226882 COSM1226881 rs1356192685 |
536 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763234414 CA9751623 |
538 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9751622 rs763234414 |
538 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs138039387 CA9751624 |
542 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs566360232 COSM1681520 CA9751625 COSM1681521 |
542 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9751627 rs749931058 |
546 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408147811 rs1600831757 |
547 | Y>* | No |
ClinGen Ensembl |
|
|
rs1486356842 CA408147809 |
547 | Y>C | No |
ClinGen gnomAD |
|
|
rs755601734 CA9751628 |
548 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs376839763 CA311065169 |
548 | R>Q | No |
ClinGen gnomAD |
|
|
rs1555817124 CA408147821 |
549 | D>G | No |
ClinGen Ensembl |
|
|
CA311065181 rs915068966 |
550 | L>F | No |
ClinGen Ensembl |
|
|
rs1428773426 CA408147826 |
550 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1448144965 CA408147860 |
555 | T>A | No |
ClinGen gnomAD |
|
|
rs1448144965 CA408147859 |
555 | T>P | No |
ClinGen gnomAD |
|
|
rs1376667238 CA408147866 |
556 | T>R | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9NWM0
Functions
| Description | ||
|---|---|---|
| EC Number | 1.5.3.16 | With oxygen as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nuclear membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity | Catalysis of the reaction: N1-acetylspermine + oxygen + H2O = N1-acetylspermidine + 3-aminopropanal + hydrogen peroxide. |
| norspermine:oxygen oxidoreductase activity | Catalysis of the reaction: norspermine + oxygen + H2O = norspermidine + 3-aminopropanal + hydrogen peroxide. |
| oxidoreductase activity | Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. |
| polyamine oxidase activity | Catalysis of the oxidative degradation or interconversion of polyamines. |
| spermine:oxygen oxidoreductase (spermidine-forming) activity | Catalysis of the reaction: H(2)O + O(2) + spermine = 3-aminopropanal + H(2)O(2) + spermidine. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| polyamine biosynthetic process | The chemical reactions and pathways resulting in the formation of polyamines, any organic compound containing two or more amino groups. |
| polyamine catabolic process | The chemical reactions and pathways resulting in the breakdown of polyamines, any organic compound containing two or more amino groups. |
| spermine catabolic process | The chemical reactions and pathways resulting in the breakdown of spermine, a polybasic amine found in human sperm, in ribosomes and in some viruses and involved in nucleic acid packaging. |
| xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQSCESSGDS | ADDPLSRGLR | RRGQPRVVVI | GAGLAGLAAA | KALLEQGFTD | VTVLEASSHI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGRVQSVKLG | HATFELGATW | IHGSHGNPIY | HLAEANGLLE | ETTDGERSVG | RISLYSKNGV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ACYLTNHGRR | IPKDVVEEFS | DLYNEVYNLT | QEFFRHDKPV | NAESQNSVGV | FTREEVRNRI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RNDPDDPEAT | KRLKLAMIQQ | YLKVESCESS | SHSMDEVSLS | AFGEWTEIPG | AHHIIPSGFM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RVVELLAEGI | PAHVIQLGKP | VRCIHWDQAS | ARPRGPEIEP | RGEGDHNHDT | GEGGQGGEEP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RGGRWDEDEQ | WSVVVECEDC | ELIPADHVIV | TVSLGVLKRQ | YTSFFRPGLP | TEKVAAIHRL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GIGTTDKIFL | EFEEPFWGPE | CNSLQFVWED | EAESHTLTYP | PELWYRKICG | FDVLYPPERY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GHVLSGWICG | EEALVMEKCD | DEAVAEICTE | MLRQFTGNPN | IPKPRRILRS | AWGSNPYFRG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SYSYTQVGSS | GADVEKLAKP | LPYTESSKTA | PMQVLFSGEA | THRKYYSTTH | GALLSGQREA |
| 550 | |||||
| ARLIEMYRDL | FQQGT |