Q9NR21
Gene name |
PARP11 |
Protein name |
Protein mono-ADP-ribosyltransferase PARP11 |
Names |
ADP-ribosyltransferase diphtheria toxin-like 11, ARTD11, Poly [ADP-ribose] polymerase 11, PARP-11 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57097 |
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
2 structures for Q9NR21
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DK6 | NMR | - | A | 22-110 | PDB |
| AF-Q9NR21-F1 | Predicted | AlphaFoldDB |
258 variants for Q9NR21
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA383659837 rs1232777786 |
4 | A>V | No |
ClinGen gnomAD |
|
|
rs972436066 CA232077245 |
6 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781743199 CA383659428 |
7 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781743199 CA6395110 |
7 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769023310 CA6395109 |
8 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1228339459 CA383659404 |
10 | H>N | No |
ClinGen gnomAD |
|
|
rs200615337 CA6395107 |
12 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383659385 rs1212636965 |
12 | A>V | No |
ClinGen gnomAD |
|
|
rs75962260 CA232072320 |
13 | E>D | No |
ClinGen Ensembl |
|
|
rs142910026 CA6395105 |
14 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148563477 CA6395104 |
14 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1001268814 CA232072319 |
16 | F>L | No |
ClinGen Ensembl |
|
|
rs752123367 CA6395102 |
18 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA232072318 rs756510557 |
20 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 21 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759354996 CA6395100 |
22 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA383659316 rs1365351473 |
23 | E>Q | No |
ClinGen TOPMed |
|
|
rs751363235 CA6395099 |
25 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383659291 rs1467529318 |
26 | D>Y | No |
ClinGen gnomAD |
|
|
rs762727764 CA6395097 |
27 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs766107782 CA6395098 |
27 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6395095 rs769972983 |
29 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769972983 CA383659264 |
29 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747414834 CA232072317 |
35 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6395091 rs747414834 |
35 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308459762 CA383659186 |
38 | Y>* | No |
ClinGen gnomAD |
|
|
rs1391515321 CA383659170 |
40 | A>V | No |
ClinGen gnomAD |
|
|
rs1565537050 CA383659162 |
41 | E>G | No |
ClinGen Ensembl |
|
|
rs1391355847 CA383659165 |
41 | E>Q | No |
ClinGen TOPMed |
|
|
CA232072314 rs1035961475 |
43 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1045176424 CA232072315 |
43 | G>R | No |
ClinGen Ensembl |
|
|
rs780692222 CA6395090 |
44 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 46 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173439584 CA383659095 |
49 | Q>* | No |
ClinGen gnomAD |
|
|
CA6395086 rs149437678 |
49 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772632316 CA6395088 |
49 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs746254129 CA6395070 |
50 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1205573428 CA383659072 |
51 | D>Y | No |
ClinGen gnomAD |
|
|
CA383659064 rs1349904476 |
52 | T>A | No |
ClinGen gnomAD |
|
|
rs1234643789 CA383659057 |
53 | N>D | No |
ClinGen gnomAD |
|
|
CA383659046 rs1188644419 |
54 | S>N | No |
ClinGen TOPMed |
|
|
rs780885271 CA6395066 |
55 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA383659037 rs1242389841 |
55 | Q>R | No |
ClinGen TOPMed |
|
|
rs1027830967 CA232072226 |
56 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA232072225 rs999690812 |
57 | S>* | No |
ClinGen TOPMed |
|
|
rs1001175802 CA232072224 |
58 | V>G | No |
ClinGen TOPMed |
|
|
CA6395065 rs754513051 |
59 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6395062 rs968649802 |
63 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6395064 rs137886893 |
63 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382118309 CA383658966 |
64 | E>A | No |
ClinGen gnomAD |
|
|
CA6395061 rs776066856 |
64 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383467710 CA383658956 |
65 | K>T | No |
ClinGen gnomAD |
|
|
CA383658932 rs1162558686 |
68 | K>E | No |
ClinGen gnomAD |
|
|
rs1167168072 CA383658920 |
69 | T>I | No |
ClinGen gnomAD |
|
|
rs1321318263 CA383658919 |
70 | N>H | No |
ClinGen TOPMed |
|
|
CA6395060 rs758287056 |
70 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163127614 CA383658908 |
71 | P>L | No |
ClinGen gnomAD |
|
|
CA383658912 rs1341425830 |
71 | P>S | No |
ClinGen TOPMed |
|
|
CA383658910 rs1341425830 |
71 | P>T | No |
ClinGen TOPMed |
|
|
rs1476523526 CA383658896 |
73 | G>R | No |
ClinGen gnomAD |
|
|
rs1052914196 CA232072221 |
74 | S>T | No |
ClinGen TOPMed |
|
|
rs1591769520 CA383658886 |
75 | I>L | No |
ClinGen Ensembl |
|
|
rs374976574 CA6395056 |
77 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246157737 CA383658855 |
79 | T>N | No |
ClinGen gnomAD |
|
|
CA232072220 rs890055563 |
80 | S>T | No |
ClinGen Ensembl |
|
|
rs1272004036 CA383658834 |
82 | F>L | No |
ClinGen gnomAD |
|
|
CA383658832 rs1226193361 |
83 | S>G | No |
ClinGen gnomAD |
|
|
rs1341078870 CA383658829 |
83 | S>T | No |
ClinGen gnomAD |
|
|
CA383658822 rs1591769466 |
84 | Y>C | No |
ClinGen Ensembl |
|
|
CA6395055 rs754070697 |
85 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA232072218 rs142750141 |
86 | I>M | No |
ClinGen ESP |
|
| TCGA novel | 87 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232072217 rs1051059747 |
88 | F>L | No |
ClinGen Ensembl |
|
|
CA6395022 rs775107533 |
92 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309869955 CA383658459 |
93 | Q>H | No |
ClinGen TOPMed |
|
|
CA6395021 rs771634874 |
95 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233089064 CA383658406 |
101 | Q>R | No |
ClinGen gnomAD |
|
|
CA6395019 rs778761342 |
102 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6395018 rs770853161 |
102 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383658392 rs1282848269 |
103 | L>F | No |
ClinGen gnomAD |
|
|
rs749068267 CA6395017 |
104 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777556914 CA6395016 |
106 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1178807249 CA383658361 |
108 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 109 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753028518 CA6395014 |
115 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA383657782 rs1316997811 |
116 | Y>* | No |
ClinGen gnomAD |
|
|
CA6394993 rs781614028 |
116 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs534914792 CA6394992 |
117 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs187071509 CA6394991 |
121 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780118516 CA6394990 |
122 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA232071470 rs956054384 |
124 | P>L | No |
ClinGen TOPMed |
|
|
CA16434717 rs1412012690 |
125 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383657653 rs1242095146 |
127 | P>L | No |
ClinGen gnomAD |
|
|
CA6394988 rs751003046 |
127 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 129 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232071469 rs865826135 |
130 | E>V | No |
ClinGen Ensembl |
|
|
CA6394987 rs765698455 |
133 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs762209914 CA6394986 |
134 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383657567 rs1232837447 |
135 | Q>* | No |
ClinGen gnomAD |
|
|
rs1159483719 CA383657538 |
137 | P>A | No |
ClinGen TOPMed |
|
|
CA6394982 rs759160235 |
138 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA383657528 rs1405173786 |
138 | Y>H | No |
ClinGen TOPMed |
|
|
CA6394981 rs773746009 |
139 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6394970 rs745922688 |
140 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779411527 CA6394969 |
140 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA383657463 rs1226022041 |
141 | I>M | No |
ClinGen gnomAD |
|
|
CA383657456 rs1591762691 |
142 | P>R | No |
ClinGen Ensembl |
|
|
rs1373139996 CA383657458 |
142 | P>S | No |
ClinGen gnomAD |
|
|
rs757717146 CA6394968 |
143 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754206396 CA6394967 |
144 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1299593681 CA383657437 |
145 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA383657433 rs1370274803 |
145 | N>K | No |
ClinGen gnomAD |
|
|
rs145879477 CA6394966 |
145 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383657425 rs1167120178 |
146 | Q>H | No |
ClinGen gnomAD |
|
|
rs765592829 CA232071462 |
147 | T>A | No |
ClinGen Ensembl |
|
|
CA6394965 rs142135252 |
148 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6394964 rs142135252 |
148 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383657410 rs1396248877 |
149 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA232071461 rs376223375 |
152 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765917945 CA6394963 |
153 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762575037 CA6394962 |
156 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6394961 rs373508149 |
157 | F>I | No |
ClinGen ESP ExAC |
|
|
rs371221825 CA6394960 |
158 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202810871 CA383657323 |
161 | M>I | No |
ClinGen gnomAD |
|
|
rs776584439 CA6394958 |
162 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs776584439 CA383657321 |
162 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs377497123 CA6394957 |
163 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6394956 rs746746559 |
163 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383657307 rs775827919 |
164 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775827919 CA6394955 |
164 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs886703518 CA232071460 |
165 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA232071459 rs762146923 |
165 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383657292 rs1345471568 |
167 | K>* | No |
ClinGen TOPMed |
|
|
CA383657293 rs1345471568 |
167 | K>E | No |
ClinGen TOPMed |
|
|
CA6394953 rs745974844 |
167 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383657283 rs1417077072 |
168 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383657284 rs1417077072 |
168 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1376592827 CA383657276 |
169 | I>T | No |
ClinGen gnomAD |
|
|
CA383657265 rs1278403229 |
171 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383657226 rs1464998067 |
176 | D>G | No |
ClinGen gnomAD |
|
|
CA6394951 rs757774355 |
179 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1323721200 CA383657186 |
181 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383658281 rs759695271 |
186 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs759695271 CA6394932 |
186 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6394931 rs774543070 |
187 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6394929 rs749334415 |
189 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs887119577 CA232070641 |
189 | K>R | No |
ClinGen Ensembl |
|
|
CA383658250 rs1363681386 |
190 | K>N | No |
ClinGen gnomAD |
|
|
rs1417311474 CA383658253 |
190 | K>R | No |
ClinGen TOPMed |
|
|
rs778394236 CA6394928 |
192 | R>K | No |
ClinGen ExAC |
|
| TCGA novel | 192 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383658230 rs1441792761 |
193 | G>D | No |
ClinGen gnomAD |
|
|
rs1305679184 CA383658235 |
193 | G>S | No |
ClinGen gnomAD |
|
|
rs1441792761 CA383658232 |
193 | G>V | No |
ClinGen gnomAD |
|
|
rs1362074219 CA383658221 |
195 | P>S | No |
ClinGen TOPMed |
|
|
rs1321757583 CA383658197 |
198 | N>I | No |
ClinGen gnomAD |
|
|
rs1395346450 CA383658194 |
199 | E>* | No |
ClinGen TOPMed |
|
|
CA383658184 rs1411884149 |
200 | Q>* | No |
ClinGen gnomAD |
|
|
rs1388302257 CA383658137 |
206 | T>N | No |
ClinGen gnomAD |
|
|
CA383658116 rs1194943874 |
208 | S>N | No |
ClinGen gnomAD |
|
|
rs1384657005 CA383658080 |
211 | V>M | No |
ClinGen TOPMed |
|
|
CA6394923 rs201810855 |
212 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245629180 CA383658073 |
212 | E>K | No |
ClinGen gnomAD |
|
|
rs778707249 CA6394921 |
214 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383658039 rs1213700923 |
215 | C>R | No |
ClinGen TOPMed |
|
|
rs1252939337 CA383658032 |
215 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6394919 rs764119678 |
216 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6394918 rs764119678 |
216 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760459094 CA6394917 |
217 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA383657999 rs1159173179 |
218 | N>I | No |
ClinGen gnomAD |
|
|
rs1455553173 CA383657940 |
223 | I>M | No |
ClinGen gnomAD |
|
|
rs752549212 CA6394916 |
224 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039958043 CA232070637 |
227 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA232070638 rs894277353 |
227 | H>Y | No |
ClinGen Ensembl |
|
|
CA6394915 rs767357669 |
228 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383657898 rs1565529349 |
229 | A>T | No |
ClinGen Ensembl |
|
|
CA6394914 rs775879028 |
230 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331594125 CA383657146 |
236 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA383657129 rs1565528722 |
238 | A>V | No |
ClinGen Ensembl |
|
|
rs942477203 CA232070490 |
239 | R>K | No |
ClinGen TOPMed |
|
|
rs1401993347 CA383657124 |
239 | R>S | No |
ClinGen gnomAD |
|
|
rs752642991 CA6394896 |
240 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157867431 CA383657115 |
241 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232070489 rs866467165 |
246 | R>C | No |
ClinGen TOPMed |
|
|
CA6394895 rs767408832 |
246 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA383657066 rs1293268422 |
248 | C>Y | No |
ClinGen TOPMed |
|
|
CA383657061 rs1182851082 |
249 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383657051 rs1591754674 |
250 | D>Y | No |
ClinGen Ensembl |
|
|
CA6394894 rs754815849 |
251 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751307986 CA383657037 |
252 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs751307986 CA6394893 |
252 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383656991 rs1207003391 |
257 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 260 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773356131 CA6394890 |
261 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376430479 CA6394889 |
262 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs964634885 CA232070487 |
264 | S>R | No |
ClinGen Ensembl |
|
|
rs1228720017 CA383656942 |
264 | S>R | No |
ClinGen gnomAD |
|
|
CA6394888 rs761950257 |
268 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383656916 rs1378325609 |
268 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA383656909 rs1388669648 |
269 | H>R | No |
ClinGen gnomAD |
|
|
CA383656901 rs1319343812 |
270 | L>R | No |
ClinGen gnomAD |
|
|
CA6394886 rs769234197 |
272 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA383656886 rs1444194292 |
273 | T>A | No |
ClinGen TOPMed |
|
|
rs1406086391 CA383656877 |
274 | Y>C | No |
ClinGen TOPMed |
|
|
CA6394885 rs747406907 |
274 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383656845 rs1405210657 |
278 | F>C | No |
ClinGen gnomAD |
|
|
rs775926730 CA6394884 |
280 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs770716873 CA6394883 |
281 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6394882 rs748949914 |
281 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748949914 CA232070486 |
281 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383656814 rs1437702736 |
284 | I>T | No |
ClinGen TOPMed |
|
|
rs1186799156 CA383656805 |
286 | D>N | No |
ClinGen gnomAD |
|
|
rs1186799156 CA383656803 |
286 | D>Y | No |
ClinGen gnomAD |
|
|
rs747671113 CA6394879 |
288 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1320819779 CA383656762 |
291 | D>E | No |
ClinGen gnomAD |
|
|
CA6394876 rs571551050 |
295 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754871412 CA6394877 |
295 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6394875 rs375575295 |
296 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383656732 rs375575295 |
296 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1296204230 CA383656731 |
296 | R>Q | No |
ClinGen gnomAD |
|
|
rs867744639 CA232070484 |
298 | P>L | No |
ClinGen TOPMed |
|
|
rs886121817 CA232070483 |
299 | S>C | No |
ClinGen Ensembl |
|
|
rs1047912619 CA232070482 |
300 | K>E | No |
ClinGen gnomAD |
|
|
rs771753451 CA232070481 |
301 | D>A | No |
ClinGen Ensembl |
|
|
rs372428384 CA383656700 CA232070480 |
301 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6394873 rs747777856 |
302 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6394871 rs765469745 |
303 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA383656682 rs1170909158 |
304 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6394867 rs761201225 |
308 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs538035117 CA6394868 |
308 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6394866 rs368758168 |
311 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473151020 CA383656625 |
312 | V>A | No |
ClinGen TOPMed |
|
|
CA383656620 rs1487647947 |
313 | D>G | No |
ClinGen gnomAD |
|
|
rs898631920 CA232070479 |
313 | D>N | No |
ClinGen Ensembl |
|
|
CA6394865 rs772384248 |
314 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6394863 rs201874770 |
316 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs958800544 CA232070478 |
319 | K>E | No |
ClinGen TOPMed |
|
|
CA6394860 rs747643710 |
321 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160555238 CA383656566 |
321 | F>L | No |
ClinGen TOPMed |
|
|
rs1385836174 CA383656552 |
323 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383656537 rs1565528386 |
325 | D>G | No |
ClinGen Ensembl |
|
|
CA6394859 rs780613912 |
327 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754923500 CA6394858 |
327 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370477086 CA383656502 |
330 | Y>C | No |
ClinGen gnomAD |
|
|
CA6394857 rs747008753 |
330 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA232070476 rs937574433 |
333 | Y>C | No |
ClinGen gnomAD |
|
|
rs758169815 CA6394855 |
334 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA6394854 rs750214060 |
336 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6394853 rs779031373 |
337 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA383656447 rs1184079868 |
338 | H>R | No |
ClinGen gnomAD |
No associated diseases with Q9NR21
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nuclear envelope | The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
| nuclear pore | A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| NAD+ ADP-ribosyltransferase activity | Catalysis of the reaction: NAD+ + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor. |
| NAD+- protein-cysteine ADP-ribosyltransferase activity | Catalysis of the reaction: L-cysteinyl- + NAD(+) = H(+) + nicotinamide + S-(ADP-D-ribosyl)-L-cysteinyl- |
| NAD+- protein-lysine ADP-ribosyltransferase activity | Catalysis of the reaction: L-lysyl- + NAD(+) = H(+) + N(6)-(ADP-D-ribosyl)-L-lysyl- |
| NAD+-protein ADP-ribosyltransferase activity | Catalysis of the reaction: amino acyl- + NAD+ = H+ + (ADP-D-ribosyl)-amino acyl- |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| nuclear envelope organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear envelope. |
| protein auto-ADP-ribosylation | The ADP-ribosylation by a protein of one or more of its own amino acid residues, or residues on an identical protein. |
| protein mono-ADP-ribosylation | The transfer, from NAD, of a single (mono) ADP-ribose molecule to protein amino acids. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWEANPEMFH | KAEELFSKTT | NNEVDDMDTS | DTQWGWFYLA | ECGKWHMFQP | DTNSQCSVSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EDIEKSFKTN | PCGSISFTTS | KFSYKIDFAE | MKQMNLTTGK | QRLIKRAPFS | ISAFSYICEN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EAIPMPPHWE | NVNTQVPYQL | IPLHNQTHEY | NEVANLFGKT | MDRNRIKRIQ | RIQNLDLWEF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FCRKKAQLKK | KRGVPQINEQ | MLFHGTSSEF | VEAICIHNFD | WRINGIHGAV | FGKGTYFARD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AAYSSRFCKD | DIKHGNTFQI | HGVSLQQRHL | FRTYKSMFLA | RVLIGDYING | DSKYMRPPSK |
| 310 | 320 | 330 | |||
| DGSYVNLYDS | CVDDTWNPKI | FVVFDANQIY | PEYLIDFH |