Q9NUC0
PR
Gene name |
SERTAD4 |
Protein name |
SERTA domain-containing protein 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56256 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9NUC0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NUC0-F1 | Predicted | AlphaFoldDB |
300 variants for Q9NUC0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 9 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344610862 rs1384034819 |
9 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344610883 rs1304663230 |
11 | C>G | No |
ClinGen gnomAD |
|
|
CA344610895 rs771868122 |
11 | C>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1282763090 CA344610912 |
12 | E>D | No |
ClinGen gnomAD |
|
|
CA1378661 rs146773666 |
12 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146773666 CA344610898 |
12 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA344610923 rs144468837 |
13 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1378662 rs144468837 |
13 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA344610926 rs530112965 |
14 | I>L | No |
ClinGen ExAC TOPMed |
|
|
CA1378665 rs201525417 |
14 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1176786642 CA344610932 |
14 | I>N | No |
ClinGen gnomAD |
|
|
CA1378664 rs530112965 |
14 | I>V | No |
ExAC TOPMed ClinGen |
|
|
rs763118889 CA1378667 |
15 | V>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM326449 rs764227429 CA1378669 |
16 | S>L | lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs764227429 CA1378668 |
16 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1378672 rs750794969 |
17 | E>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1378671 rs781726367 |
17 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA344610960 rs1490416794 |
17 | E>K | No |
ClinGen gnomAD |
|
|
rs1159813789 CA344610979 |
18 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
CA1378673 rs755762050 |
18 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA1378674 rs779733256 |
19 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA37074779 rs887512076 |
20 | A>V | No |
ClinGen Ensembl |
|
|
CA344611012 rs1325904044 |
21 | E>K | No |
TOPMed ClinGen |
|
|
CA1378676 rs768161167 |
23 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344611069 rs1365921190 |
25 | Y>S | No |
gnomAD ClinGen |
|
|
rs749537055 CA1378678 |
28 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA344611145 rs1307707656 |
30 | E>D | No |
ClinGen gnomAD |
|
|
CA1378679 rs771992981 |
32 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA344611183 rs1294437103 |
33 | S>T | No |
gnomAD ClinGen |
|
|
CA37074781 rs997660584 |
35 | G>E | No |
TOPMed ClinGen |
|
|
rs368662687 CA344611204 CA1378681 |
35 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA344611218 rs775815689 |
36 | G>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1378682 rs770585043 |
36 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA1378683 rs775815689 |
36 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs149048397 CA1378684 |
37 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149048397 CA344611229 |
37 | P>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs796126524 CA37074782 |
37 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
CA344611244 rs1558256314 |
38 | S>T | No |
ClinGen Ensembl |
|
|
CA1378688 rs762472599 |
39 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA1378687 rs138619747 |
39 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1378686 rs138619747 |
39 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| rs751231132 | 40 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344611268 rs1164432919 |
40 | P>R | No |
gnomAD ClinGen |
|
|
CA1378690 rs750801701 |
40 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1378691 rs142929495 |
41 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142929495 COSM1501168 CA1378692 |
41 | G>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs753542801 CA1378694 |
42 | P>S | No |
ExAC ClinGen |
|
|
rs1463664848 CA344611301 COSM369540 |
43 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1378695 rs141730739 |
45 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778462610 CA1378696 |
46 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs777791874 CA1378699 |
50 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs746883486 CA344611400 |
51 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1225316 rs201624416 CA1378701 |
51 | R>Q | large_intestine Variant assessed as Somatic; 0.0004192 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs746883486 CA1378700 |
51 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs749577938 CA1378703 |
52 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA344611431 rs1248317966 |
53 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1378704 rs768991427 |
53 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490804672 CA344611433 |
54 | G>S | No |
ClinGen gnomAD |
|
|
rs774612281 CA1378705 |
54 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1378706 rs761961542 |
55 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA344611444 rs1456055154 |
55 | P>S | No |
gnomAD ClinGen |
|
|
rs202012113 CA1378708 |
56 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201550045 CA344611459 |
56 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1378709 rs201550045 |
56 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202012113 CA1378707 |
56 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421323434 CA344611484 |
58 | A>E | No |
gnomAD ClinGen |
|
|
rs1179910676 CA344611471 |
58 | A>T | No |
ClinGen gnomAD |
|
|
CA37074907 rs985115883 |
61 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs61740848 CA1378741 |
61 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1378743 rs372599899 |
62 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751024419 CA1378742 |
62 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
rs148780972 CA1378744 |
63 | R>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA344608065 rs1343627659 |
68 | P>L | No |
gnomAD ClinGen |
|
|
CA37074909 rs1053365264 |
69 | I>M | No |
ClinGen TOPMed |
|
|
CA37074908 rs745700099 |
69 | I>V | No |
Ensembl ClinGen |
|
| TCGA novel | 71 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 71 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111584601 CA37074910 |
72 | S>F | No |
Ensembl ClinGen |
|
|
CA1378747 rs199512235 |
76 | Y>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA344608135 rs1328175709 |
79 | R>T | No |
ClinGen TOPMed |
|
|
CA1378748 rs779927024 |
80 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA1378749 rs779927024 |
80 | K>T | No |
ExAC gnomAD ClinGen |
|
|
CA344608159 rs1571548871 |
83 | E>K | No |
Ensembl ClinGen |
|
|
CA1378753 rs747038597 |
86 | D>V | No |
ExAC gnomAD ClinGen |
|
|
rs770998236 CA1378755 |
88 | H>P | No |
ExAC gnomAD ClinGen |
|
|
CA37074911 rs891829792 |
89 | P>S | No |
TOPMed ClinGen |
|
|
CA1378757 rs759972796 |
90 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759972796 CA344608210 |
90 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs1460621542 CA344608218 |
91 | L>H | No |
TOPMed ClinGen |
|
|
rs1158446604 CA344608222 |
92 | S>G | No |
gnomAD ClinGen |
|
|
rs770161142 CA1378758 |
93 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs762732190 CA1378760 |
94 | C>F | No |
ExAC gnomAD ClinGen |
|
|
CA344608236 rs1159768579 |
94 | C>R | No |
TOPMed ClinGen |
|
|
rs762732190 CA344608239 |
94 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs375683993 CA1378761 |
95 | S>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs375798387 CA37074912 |
97 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751126593 CA1378762 |
97 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151288026 CA1378810 |
98 | T>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs151288026 CA1378809 |
98 | T>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA344608276 rs1244494678 |
98 | T>S | No |
ClinGen gnomAD |
|
|
rs1318775781 CA344608309 |
103 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1378812 rs756660596 |
104 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1378813 rs373437236 |
105 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs557723860 CA1378814 |
106 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1378815 rs187746080 |
109 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA37075091 rs936482014 |
110 | Y>C | No |
ClinGen TOPMed |
|
|
CA344608356 rs936482014 |
110 | Y>F | No |
TOPMed ClinGen |
|
|
rs937621913 CA37075092 |
111 | M>T | No |
ClinGen Ensembl |
|
|
CA344608374 rs1202478489 |
113 | L>V | No |
ClinGen TOPMed |
|
|
CA1378817 rs747812740 |
119 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1378816 rs774719443 |
119 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs200231133 COSM1338550 CA1378819 |
120 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA344608435 rs1477259634 |
121 | D>E | No |
ClinGen gnomAD |
|
|
CA37075093 rs377454342 |
124 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA344608471 rs1430744935 |
127 | R>* | No |
ClinGen gnomAD |
|
|
CA344608472 rs1466528286 COSM209770 |
127 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 130 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171902123 CA344608532 |
136 | M>L | No |
gnomAD ClinGen |
|
|
CA344608553 rs1399866594 |
138 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
| TCGA novel | 141 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344608569 rs1314775882 |
141 | G>R | No |
ClinGen TOPMed |
|
|
CA344608583 rs1318646961 |
143 | I>F | No |
gnomAD ClinGen |
|
|
CA344608602 rs1325733185 |
145 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1276419335 CA344608600 |
145 | M>K | No |
ClinGen gnomAD |
|
|
CA1378821 rs765949488 |
145 | M>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1234678233 CA344608610 |
146 | Q>R | No |
ClinGen gnomAD |
|
|
rs1334491370 CA344608639 |
150 | C>R | No |
ClinGen TOPMed |
|
|
CA344608641 rs1255918769 |
150 | C>Y | No |
gnomAD ClinGen |
|
|
rs1287133239 CA344608655 |
152 | P>A | No |
gnomAD ClinGen |
|
|
CA344608662 rs1487778377 |
153 | A>S | No |
ClinGen gnomAD |
|
|
rs1318751275 CA344608678 |
155 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
CA37075096 rs372029392 |
157 | N>D | No |
ClinGen TOPMed |
|
|
rs765003344 CA1378824 |
157 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs370852829 CA1378825 |
158 | G>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA37075097 rs1040696500 |
159 | T>I | No |
TOPMed ClinGen |
|
| TCGA novel | 160 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1378827 rs768257180 |
161 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1378829 rs756216956 |
164 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA344608748 rs1424715937 |
166 | M>V | No |
TOPMed ClinGen |
|
| TCGA novel | 169 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368088262 CA1378831 |
171 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368088262 CA37075099 |
171 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1378832 rs755497055 |
172 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA344608798 rs1198014604 |
173 | R>* | No |
ClinGen TOPMed |
|
|
CA1378833 COSM1668440 rs779187031 |
173 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1337545576 CA344608810 |
175 | R>* | No |
ClinGen TOPMed |
|
|
CA344608811 rs138093906 |
175 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1378834 rs138093906 |
175 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1241757480 CA344608820 |
177 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs143144643 CA1378835 |
177 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1378836 rs148236738 |
180 | K>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA1378837 rs746595713 |
180 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA37075100 rs146325918 |
183 | C>S | No |
ClinGen ESP |
|
|
rs1264607803 CA344608880 |
185 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA344608875 rs1312629097 |
185 | K>Q | No |
TOPMed ClinGen |
|
|
rs770581752 CA1378838 |
187 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs776195884 CA1378839 |
187 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1488563715 CA344608917 |
190 | C>* | No |
ClinGen gnomAD |
|
|
rs1208736251 CA344608920 |
191 | F>L | No |
gnomAD ClinGen |
|
| TCGA novel | 194 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200121185 CA37075102 |
195 | C>S | No |
1000Genomes ClinGen |
|
|
rs775194130 CA1378843 |
196 | G>C | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 197 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762756599 CA1378844 |
197 | G>S | No |
ExAC gnomAD ClinGen |
|
|
rs370647821 CA1378845 |
198 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760827380 CA1378847 |
199 | Y>D | No |
ExAC gnomAD ClinGen |
|
|
rs760827380 CA344608976 |
199 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
rs766427404 CA1378848 |
201 | N>D | No |
ExAC gnomAD ClinGen |
|
|
CA344608999 rs1235205159 |
202 | L>F | No |
gnomAD ClinGen |
|
|
CA1378849 rs367711056 |
202 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482577069 CA344609002 |
203 | P>S | No |
gnomAD ClinGen |
|
|
rs371653993 CA1378850 |
204 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 206 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344609027 rs1332611084 |
207 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA344609025 rs1449718426 |
207 | N>Y | No |
ClinGen gnomAD |
|
|
rs779497728 CA1378851 |
208 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753106742 CA37075103 |
209 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA344609045 rs1321970953 |
210 | V>I | No |
gnomAD ClinGen |
|
|
rs1243559617 CA344609067 |
213 | A>G | No |
TOPMed gnomAD ClinGen |
|
|
rs1441933879 CA344609063 |
213 | A>T | No |
TOPMed ClinGen |
|
|
CA344609080 rs1179444721 |
215 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1481315153 CA344609081 |
216 | A>T | No |
ClinGen gnomAD |
|
|
CA1378855 rs746720364 |
218 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1378854 rs778228977 |
218 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA344609106 rs1269530989 |
220 | P>R | No |
ClinGen TOPMed |
|
|
rs1409230216 CA344609105 |
220 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA37075104 rs970503998 |
221 | S>F | No |
ClinGen TOPMed |
|
|
rs62639700 CA1378858 |
222 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA37075105 rs775525465 |
225 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1366855474 CA344609131 |
225 | S>P | No |
ClinGen gnomAD |
|
|
CA1378860 rs775525465 |
225 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762809372 CA1378861 |
226 | S>C | No |
ClinGen ExAC |
|
|
CA344609144 rs1236391147 |
227 | S>L | No |
TOPMed ClinGen |
|
|
rs1332507349 CA344609157 |
229 | S>F | No |
ClinGen TOPMed |
|
|
rs768451435 CA1378862 |
233 | P>T | No |
ExAC gnomAD ClinGen |
|
|
rs1395142743 CA344609184 |
234 | P>R | No |
ClinGen gnomAD |
|
|
CA344609182 rs563699838 |
234 | P>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA1378863 rs563699838 |
234 | P>T | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs376740874 CA37075107 |
236 | P>H | No |
ClinGen Ensembl |
|
|
rs760953970 CA1378866 |
237 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA344609206 rs1316026090 |
238 | P>A | No |
gnomAD ClinGen |
|
|
rs375915517 COSM1225318 CA1378868 |
238 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs375915517 CA1378867 |
238 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375915517 CA1378869 |
238 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1199591861 CA344609212 |
239 | S>I | No |
TOPMed ClinGen |
|
|
rs1379657680 CA344609207 |
239 | S>R | No |
ClinGen TOPMed |
|
|
rs202049013 CA37075109 |
242 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs369120586 CA1378871 COSM903400 |
242 | R>H | endometrium [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs369120586 CA1378872 |
242 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1218749145 CA344609250 |
245 | D>G | No |
ClinGen TOPMed |
|
|
rs756905055 CA1378875 |
246 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs201411971 CA1378876 |
247 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553300709 CA344609268 |
248 | V>I | No |
Ensembl ClinGen |
|
|
CA1378878 rs755651068 |
249 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA344609280 rs1465859369 |
250 | S>G | No |
ClinGen gnomAD |
|
|
rs1301403829 CA344609282 |
250 | S>N | No |
ClinGen gnomAD |
|
|
rs1571551329 CA344609295 |
252 | S>C | No |
ClinGen Ensembl |
|
|
rs368292466 CA1378882 |
252 | S>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs368292466 CA1378881 |
252 | S>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs747959806 CA1378883 |
253 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1378884 rs753073701 |
258 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1041123332 CA37075112 |
260 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1041123332 CA344609349 |
260 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1207770676 CA344609361 |
262 | A>S | No |
ClinGen gnomAD |
|
|
rs1207770676 CA344609360 |
262 | A>T | No |
gnomAD ClinGen |
|
|
rs759620992 CA1378886 |
263 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765418208 CA1378887 |
264 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA1378888 rs775710331 |
267 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1192926829 CA344609400 |
268 | T>P | No |
ClinGen gnomAD |
|
|
rs764669365 CA1378890 |
271 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA344609432 rs1271445661 |
273 | L>F | No |
gnomAD ClinGen |
|
|
rs752059938 COSM1473360 CA1378891 |
273 | L>P | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1480898565 CA344609442 |
274 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1378892 rs757669368 |
275 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1358156235 CA344609454 |
276 | Q>H | No |
gnomAD ClinGen |
|
|
CA344609457 rs767704678 |
277 | E>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA1378893 rs767704678 |
277 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897990502 CA37075113 |
278 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 278 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs993750413 CA344609470 |
279 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs993750413 CA37075114 |
279 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 279 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA344609497 rs1195993447 |
282 | N>K | No |
TOPMed ClinGen |
|
| TCGA novel | 284 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478097193 CA344609527 |
286 | A>E | No |
TOPMed ClinGen |
|
|
rs750101662 CA1378894 |
291 | N>K | No |
ExAC ClinGen |
|
|
CA344609562 rs1217364384 |
291 | N>S | No |
ClinGen gnomAD |
|
|
CA1378895 rs755708509 |
293 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA37075115 rs899903458 |
299 | H>N | No |
ClinGen TOPMed |
|
|
CA1378898 rs375120449 |
299 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369366884 CA1378900 |
300 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA1378901 rs771916248 |
301 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746171055 CA1378903 |
305 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA344609686 rs1378107859 |
310 | C>G | No |
ClinGen gnomAD |
|
|
CA344609685 rs1378107859 |
310 | C>R | No |
ClinGen gnomAD |
|
|
rs1406687575 CA344609695 |
311 | K>T | No |
gnomAD ClinGen |
|
|
CA1378904 rs769880634 |
312 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs769880634 CA37075116 |
312 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769880634 CA344609703 |
312 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 313 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 316 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA37075117 rs867515299 |
316 | D>N | No |
Ensembl ClinGen |
|
|
rs1333269757 CA344609743 |
318 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs764225670 CA1378907 |
318 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs145832003 CA1378906 |
318 | F>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA344609758 rs144356617 |
320 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1378909 rs138733991 |
320 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1378908 rs144356617 |
320 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750746678 CA1378911 |
321 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755830669 CA1378912 COSM1929444 |
322 | Y>C | liver [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs753449526 CA1378914 |
324 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA344609790 rs1362380427 |
325 | R>K | No |
gnomAD ClinGen |
|
|
CA37075118 rs757348393 |
331 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 331 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354506890 CA344609835 |
331 | S>T | No |
Ensembl ClinGen |
|
|
rs778337974 CA1378916 |
333 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA344609865 rs1400968555 |
335 | S>Y | No |
ClinGen gnomAD |
|
|
rs201206238 CA1378918 |
337 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs150924683 CA1378917 |
337 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs559261349 CA1378919 |
339 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1378920 rs746762496 |
340 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs200530843 CA37075119 |
342 | S>* | No |
TOPMed ClinGen |
|
|
CA344609910 rs200530843 |
342 | S>L | No |
TOPMed ClinGen |
|
|
rs1355830885 CA344609929 |
345 | S>R | No |
ClinGen gnomAD |
|
|
rs1558258612 CA344609933 |
346 | N>Y | No |
ClinGen Ensembl |
|
|
rs1231548614 CA344609945 |
347 | K>N | No |
gnomAD ClinGen |
|
|
rs780450932 CA344609947 |
348 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319248776 CA344609950 |
348 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 349 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 349 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1459697792 CA344609960 |
350 | C>S | No |
ClinGen TOPMed |
|
|
CA37075121 rs981914569 |
351 | S>G | No |
ClinGen Ensembl |
|
|
CA37075122 rs932319595 |
353 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA344609987 rs1198665018 |
353 | G>V | No |
ClinGen TOPMed |
|
|
rs768868389 CA1378924 |
355 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs1187899198 CA344610007 |
356 | I>T | No |
ClinGen gnomAD |
|
|
rs1306440180 CA344610012 |
357 | I>R | No |
ClinGen TOPMed |
No associated diseases with Q9NUC0
1 regional properties for Q9NUC0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SERTA domain | 101 - 147 | IPR009263 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLVLSMNRF | CEPIVSEGAA | EIAGYQTLWE | ADSYGGPSPP | GPAQAPLQGD | RGAGPPLAGS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HYRGISNPIT | TSKITYFKRK | YVEEEDFHPP | LSSCSHKTIS | IFEERAHILY | MSLEKLKFID |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DPEVYLRRSV | LINNLMKRIH | GEIIMQNNWC | FPACSFNGTS | AQEWFMAQDC | PYRKRPRMAK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EECEKFHACC | FYQECGGHYL | NLPLSVNANV | GSASTAASSP | SASSSSSSSS | SSPPLPLPSC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SRQVDFDVGS | ASIYKSDGQI | PANEIFVTNV | RSLGVQEKAK | LNDEKANDDT | NRDGGPLSHE |
| 310 | 320 | 330 | 340 | 350 | |
| PVGNDLAFEC | KGQFYDYFET | GYNERNNVNE | SWKKSLRKKE | ASPPSNKLCC | SKGSKI |