O15504
PR
Gene name |
NUP42 |
Protein name |
Nucleoporin NUP42 |
Names |
NLP-1, NUP42 homolog, Nucleoporin hCG1, Nucleoporin-42, Nucleoporin-like protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11097 |
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 O15504
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6B4F | X-ray | 281 A | C/D | 381-423 | PDB |
| 6B4I | X-ray | 362 A | C/D | 381-423 | PDB |
| 6B4J | X-ray | 340 A | C/D | 376-422 | PDB |
| AF-O15504-F1 | Predicted | AlphaFoldDB |
375 variants for O15504
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4186763 rs769108678 |
2 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs977948600 CA155259367 |
2 | A>T | No |
ClinGen TOPMed |
|
|
CA366982996 rs769108678 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4186764 rs779252589 |
3 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772223018 CA4186766 |
5 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA155259369 rs923993257 |
8 | L>I | No |
ClinGen Ensembl |
|
|
rs1322012832 CA366983037 |
8 | L>P | No |
ClinGen gnomAD |
|
|
rs370296256 CA155259370 |
11 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4186769 rs373954436 |
11 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA155259371 rs373954436 |
11 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4186768 rs370296256 |
11 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776959322 CA4186770 |
12 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765112038 COSM600579 CA366983062 |
13 | R>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765112038 CA4186772 |
13 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4186774 rs762887774 |
15 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA366983076 rs1186817259 |
15 | G>V | No |
ClinGen gnomAD |
|
|
CA4186775 rs368129535 |
16 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366983083 rs1252484994 |
16 | D>V | No |
ClinGen TOPMed |
|
|
CA366983090 rs1583752582 |
17 | R>L | No |
ClinGen Ensembl |
|
|
rs1202393464 CA366983087 |
17 | R>W | No |
ClinGen TOPMed |
|
|
TCGA novel rs1306795598 CA366983106 |
19 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs751058589 CA4186776 |
19 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1225082982 CA366983119 |
21 | E>G | No |
ClinGen TOPMed |
|
|
rs1047360557 CA155259375 |
22 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA366983131 rs1455355345 |
23 | P>A | No |
ClinGen gnomAD |
|
|
rs767050226 CA4186778 |
23 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1331551680 CA366983141 |
25 | A>T | No |
ClinGen gnomAD |
|
|
CA155259380 rs764949484 |
25 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA155259381 rs948083955 |
26 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 26 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534089410 CA4186781 |
27 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1327483696 CA366983161 |
28 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4186782 rs779349648 |
30 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA366983179 rs1299923923 |
31 | G>E | No |
ClinGen TOPMed |
|
|
CA4186785 rs371896223 |
32 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366983185 rs1177304333 |
33 | Q>* | No |
ClinGen TOPMed |
|
|
rs1049298185 CA155259389 |
34 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA366983203 rs1486622037 |
35 | P>L | No |
ClinGen gnomAD |
|
|
rs758971114 CA4186786 |
35 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs145987368 CA4186788 |
36 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145987368 CA4186787 |
36 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4186789 rs771174577 |
37 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA4186790 rs776677473 |
37 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs746119877 CA366983222 |
38 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366983225 rs1364025154 |
39 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1364025154 CA366983226 |
39 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1036400533 CA155260099 |
41 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4186826 rs757786096 |
45 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781615275 CA4186827 |
45 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366983280 rs781615275 |
45 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA155260106 rs772483622 |
48 | N>H | No |
ClinGen Ensembl |
|
|
CA366983310 rs1346918542 |
50 | T>A | No |
ClinGen TOPMed |
|
|
CA573310633 rs1254486878 |
51 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs756190102 CA4186829 |
51 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1187400863 CA366983324 |
52 | Q>* | No |
ClinGen gnomAD |
|
|
rs376551952 CA4186830 |
53 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1387730867 CA366983334 |
53 | R>T | No |
ClinGen gnomAD |
|
|
rs989185325 CA155260113 |
54 | Y>* | No |
ClinGen TOPMed |
|
|
CA366983338 rs1171710868 |
54 | Y>D | No |
ClinGen gnomAD |
|
|
rs150791680 CA155260117 |
56 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4186833 rs150791680 |
56 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs950136083 CA155260120 |
58 | I>V | No |
ClinGen TOPMed |
|
|
rs773074996 CA4186836 |
62 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs149868774 CA4186838 |
62 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366983391 rs1318657762 |
62 | S>R | No |
ClinGen gnomAD |
|
|
CA4186837 rs149868774 |
62 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4186840 rs759272230 |
63 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366983397 rs1296190074 |
63 | F>L | No |
ClinGen gnomAD |
|
|
rs776370106 CA4186839 |
63 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs937482627 CA155260130 COSM1549340 |
64 | S>P | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA366983407 rs1242348017 |
65 | K>R | No |
ClinGen gnomAD |
|
|
rs1274748631 COSM183362 CA366983416 |
66 | S>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4186843 rs751967619 |
68 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA366983431 rs1554295346 |
69 | W>* | No |
ClinGen Ensembl |
|
|
rs532277781 CA4186847 |
69 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs532277781 CA366983433 CA4186848 |
69 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366983429 rs1562603281 |
69 | W>R | No |
ClinGen Ensembl |
|
|
CA4186845 rs1554295346 |
69 | W>S | No |
ClinGen Ensembl |
|
|
rs766461516 CA155260146 |
70 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766461516 CA4186851 |
70 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366983434 rs144959659 CA4186849 |
70 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144959659 CA4186850 |
70 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167581908 CA366983438 |
71 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1167581908 CA366983436 |
71 | G>S | No |
ClinGen TOPMed gnomAD |
|
| rs758695627 | 72 | S>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4186853 rs79148381 |
75 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA155260150 rs79148381 |
75 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 76 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4186854 rs779168050 |
77 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347097265 CA366983488 |
78 | P>S | No |
ClinGen gnomAD |
|
|
rs747955423 CA4186855 |
79 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1302270739 CA366983507 |
81 | S>C | No |
ClinGen gnomAD |
|
|
rs758165565 CA4186856 |
82 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA366983517 rs1313202204 |
82 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs909459802 CA155260156 |
83 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4186858 rs777722795 |
83 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 83 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777722795 CA4186857 |
83 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4186859 rs182456328 |
84 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366983549 rs1265848479 |
87 | A>V | No |
ClinGen gnomAD |
|
|
rs1472903067 CA366983554 |
88 | S>L | No |
ClinGen TOPMed |
|
|
CA4186860 rs776285163 |
89 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1398141642 CA366983560 |
89 | T>I | No |
ClinGen gnomAD |
|
|
CA4186862 rs745436354 |
90 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1190659369 CA366983571 |
91 | R>T | No |
ClinGen gnomAD |
|
|
CA4186863 rs140354833 |
93 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366983593 rs144835773 |
94 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366983594 rs144835773 |
94 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144835773 CA4186864 |
94 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4186865 rs762199126 |
96 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA155260170 rs368786089 |
98 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 99 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4186867 rs773711883 |
101 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366983659 rs1357302694 |
104 | S>* | No |
ClinGen TOPMed |
|
|
CA366983662 rs1295270011 |
105 | L>V | No |
ClinGen TOPMed |
|
|
rs367922864 CA155260174 |
106 | S>T | No |
ClinGen gnomAD |
|
|
rs79806987 CA4186870 |
107 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79806987 CA4186869 |
107 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4186868 rs79806987 |
107 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314619801 CA366983676 |
107 | P>S | No |
ClinGen gnomAD |
|
|
CA366983674 rs1314619801 |
107 | P>T | No |
ClinGen gnomAD |
|
|
CA155260181 rs371807982 |
108 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA366983677 rs371807982 |
108 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs371807982 CA366983678 |
108 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA155260183 rs371435910 |
112 | D>G | No |
ClinGen Ensembl |
|
|
CA366983710 rs1279409857 |
112 | D>N | No |
ClinGen TOPMed |
|
|
rs145269225 CA366983729 |
114 | K>N | No |
ClinGen gnomAD |
|
|
CA366983738 rs1562603483 |
115 | K>N | No |
ClinGen Ensembl |
|
|
CA155260568 rs941904140 |
118 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs763085772 CA4186899 |
118 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1226547034 CA366983773 |
120 | I>L | No |
ClinGen TOPMed |
|
|
rs557798560 CA4186900 |
120 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4186902 rs536538587 |
124 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4186901 rs375210749 |
124 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1438727263 CA366983810 |
125 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA155260573 rs533898471 |
126 | V>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4186903 rs76309873 |
127 | W>* | No |
ClinGen ExAC |
|
|
CA155260576 rs76309873 |
127 | W>L | No |
ClinGen ExAC |
|
|
rs755629421 CA4186905 |
128 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs750409864 CA4186904 |
128 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs928989619 CA155260580 |
130 | S>L | No |
ClinGen TOPMed |
|
|
CA4186907 rs748895683 |
134 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs768185191 CA4186909 |
136 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747346359 CA4186911 |
137 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4186910 rs554141794 |
137 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4186912 rs771318400 |
139 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366983908 rs1293497873 |
140 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4186914 rs760046745 |
145 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4186915 rs769841487 |
147 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366984278 rs147941761 |
149 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4186968 rs147941761 |
149 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1438932635 CA366984288 |
151 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756541287 CA4186969 |
152 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs141747889 CA4186970 |
153 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4186972 rs768553231 |
156 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749822232 CA4186971 |
156 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4186975 rs1728327 |
157 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4186973 rs774569498 |
157 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4186976 rs773612718 |
158 | L>M | No |
ClinGen ExAC |
|
|
rs373062738 CA4186977 |
159 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366984344 rs1433378078 |
160 | L>F | No |
ClinGen TOPMed |
|
|
CA4186978 rs766222107 |
161 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1325156622 CA366984361 |
162 | Y>* | No |
ClinGen TOPMed |
|
|
CA4186979 rs377339996 |
163 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366984378 rs1405968049 |
165 | F>L | No |
ClinGen TOPMed |
|
|
rs988100738 CA155262811 |
170 | N>K | No |
ClinGen Ensembl |
|
|
CA366984438 rs1468528127 |
173 | S>G | No |
ClinGen gnomAD |
|
|
rs199844379 CA4186981 |
174 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535306272 CA155262957 |
177 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs769693804 CA4186999 |
178 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769693804 CA155262960 |
178 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366984571 rs775445241 CA4187000 |
179 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4187001 rs762409900 |
180 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1088581 CA4187002 rs763615256 |
180 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs368253769 CA155262965 |
182 | I>T | No |
ClinGen ESP |
|
|
CA366984593 rs751114640 |
183 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751114640 CA4187003 |
183 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1412707093 CA366984598 |
184 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767136071 CA4187005 |
185 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761524771 CA4187004 |
185 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA155262971 rs75513762 |
191 | E>K | No |
ClinGen Ensembl |
|
|
CA155262973 rs957494079 |
194 | S>C | No |
ClinGen Ensembl |
|
|
CA366984672 rs1222820044 |
194 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366984675 rs1197736896 |
195 | L>V | No |
ClinGen TOPMed |
|
|
rs186355447 CA4187007 |
196 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4187008 rs755435290 |
197 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1020904166 CA155262978 |
197 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4187010 rs753281820 |
200 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366977592 rs1345057845 |
204 | L>P | No |
ClinGen TOPMed |
|
|
CA366977616 rs1291768096 |
205 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4187043 rs569259219 |
205 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771507036 CA4187044 |
206 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772868016 CA4187045 |
208 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4187046 rs760411677 |
210 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1348617599 CA366977742 |
211 | V>I | No |
ClinGen gnomAD |
|
|
rs1029772208 CA155265792 |
215 | A>E | No |
ClinGen Ensembl |
|
|
CA4187048 rs766197271 |
216 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM22097 CA4187049 rs775980109 |
216 | P>L | large_intestine skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA366977921 rs1485416741 |
222 | S>G | No |
ClinGen TOPMed |
|
|
CA4187051 rs764628696 |
222 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159739308 CA366977941 |
223 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757310818 CA4187053 |
223 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA4187055 rs371504782 |
225 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200016707 CA155265794 |
227 | T>I | No |
ClinGen gnomAD |
|
|
rs1418834368 CA366978031 |
228 | F>C | No |
ClinGen gnomAD |
|
|
CA155265795 rs910306430 |
229 | M>V | No |
ClinGen Ensembl |
|
|
CA155265796 rs201901418 |
230 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs978445193 CA155265797 |
231 | P>A | No |
ClinGen Ensembl |
|
|
CA4187059 rs754761597 |
231 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748045514 CA4187086 |
233 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4187087 rs758251492 |
235 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs889810135 CA155265862 |
236 | N>D | No |
ClinGen Ensembl |
|
|
CA4187089 rs746483408 |
236 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA366978164 rs1459955067 |
237 | N>K | No |
ClinGen gnomAD |
|
|
rs1369682681 CA366978193 |
241 | D>G | No |
ClinGen gnomAD |
|
|
rs1295315625 CA366978190 |
241 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 242 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183286778 CA366978238 |
244 | Q>E | No |
ClinGen gnomAD |
|
|
rs780941512 CA4187091 |
245 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4187092 rs745518385 |
246 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4187093 rs768998260 |
248 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 250 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762288670 CA366978378 |
251 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs774574630 CA4187094 |
251 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 254 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366978418 rs1233480655 |
254 | F>L | No |
ClinGen TOPMed |
|
|
rs772427957 CA4187096 |
254 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4187097 rs150180643 |
255 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1436230273 CA366978466 |
257 | A>P | No |
ClinGen TOPMed |
|
|
rs1272581825 CA366978489 |
258 | S>F | No |
ClinGen TOPMed |
|
|
CA4187099 rs766463707 |
259 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366978511 rs1479004469 |
260 | G>R | No |
ClinGen gnomAD |
|
|
CA366978535 rs1194769508 |
261 | S>N | No |
ClinGen gnomAD |
|
|
rs375404356 CA4187101 |
264 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366978597 rs1167056100 |
265 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765557668 CA4187102 |
265 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366978602 rs1583782529 |
266 | G>W | No |
ClinGen Ensembl |
|
|
rs752409597 CA4187103 |
267 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758249825 CA4187104 |
268 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758249825 CA366978648 |
268 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA366978665 rs1358478444 |
269 | P>L | No |
ClinGen gnomAD |
|
|
rs1298525579 CA366978700 |
270 | A>V | No |
ClinGen gnomAD |
|
|
CA4187107 rs756767732 |
273 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780851691 CA4187108 |
275 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4187109 rs745450053 |
276 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 276 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366978863 rs1239044039 |
278 | S>N | No |
ClinGen gnomAD |
|
|
CA4187110 rs769317648 |
279 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA155265864 rs1031202329 |
280 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1583782621 CA366978919 |
282 | S>C | No |
ClinGen Ensembl |
|
|
rs1436268459 CA366978962 |
286 | P>A | No |
ClinGen TOPMed |
|
|
rs779796981 CA4187111 |
288 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA366979009 rs1183806091 |
289 | G>R | No |
ClinGen gnomAD |
|
|
rs1156944111 CA366979062 |
292 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4187114 rs773653043 |
293 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4187115 rs773653043 |
293 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366979083 rs1409364224 COSM1312971 |
294 | E>K | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1421394590 CA366979123 |
296 | T>I | No |
ClinGen gnomAD |
|
|
COSM1088582 rs547828229 CA4187118 |
297 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA4187117 rs547828229 |
297 | S>W | No |
ClinGen ExAC |
|
|
CA4187120 rs759706407 |
298 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1445431568 CA366979150 |
299 | A>G | No |
ClinGen gnomAD |
|
|
CA366979165 rs1277866643 |
301 | F>L | No |
ClinGen TOPMed |
|
|
rs1023964230 CA155265868 |
303 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs935548376 CA155265869 |
306 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366979206 rs969724772 |
307 | A>S | No |
ClinGen gnomAD |
|
|
CA155265870 rs969724772 |
307 | A>T | No |
ClinGen gnomAD |
|
|
CA366979207 rs1286276852 |
307 | A>V | No |
ClinGen TOPMed |
|
|
rs752992654 CA4187123 |
308 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs762603996 CA4187124 |
309 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4187125 rs763992632 |
311 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1353328716 CA366979290 |
312 | G>E | No |
ClinGen gnomAD |
|
|
rs796192488 CA155265871 |
314 | P>L | No |
ClinGen Ensembl |
|
|
CA155265872 rs757255600 |
315 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4187127 rs757255600 |
315 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs138284235 CA4187128 |
319 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366979372 rs1441519513 |
320 | P>A | No |
ClinGen gnomAD |
|
|
CA366979378 rs1394321461 |
321 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1412549779 CA366979382 |
321 | A>V | No |
ClinGen gnomAD |
|
|
rs779525178 CA366979402 |
325 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs140632442 CA4187132 |
325 | T>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs779525178 CA4187131 |
325 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA4187133 rs753518076 |
326 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753518076 CA155265874 |
326 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs778108978 CA4187134 |
328 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs747435974 CA4187135 |
329 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs771410154 CA4187136 |
330 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4187137 rs777230992 COSM232928 |
331 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1311373086 CA366979448 |
333 | A>V | No |
ClinGen TOPMed |
|
|
CA366979452 rs1346224040 |
334 | P>L | No |
ClinGen TOPMed |
|
|
CA366979459 rs1221320553 |
335 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA366979460 rs1221320553 |
335 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366979468 rs1279730182 |
336 | F>L | No |
ClinGen gnomAD |
|
|
CA155265875 rs80001203 |
337 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs80001203 CA4187139 |
337 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775515461 CA4187140 |
340 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA155265876 rs962542970 |
341 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA366979493 rs962542970 |
341 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4187141 rs763270156 |
342 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1252311036 CA366980084 COSM1450051 |
343 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs201148821 CA4187142 |
344 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4187144 rs761748800 |
345 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA4187146 rs76834116 |
346 | G>C | No |
ClinGen ExAC gnomAD |
|
|
COSM75678 CA4187147 rs76834116 |
346 | G>S | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4187149 rs569076713 |
347 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4187150 rs569076713 |
347 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs138698619 CA4187151 |
348 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61756129 CA4187153 |
349 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4187154 rs781499139 |
350 | S>L | No |
ClinGen ExAC |
|
|
CA366980218 rs1439178947 |
351 | H>Q | No |
ClinGen gnomAD |
|
|
rs1273213077 CA366980205 |
351 | H>Y | No |
ClinGen TOPMed |
|
|
CA4187155 rs746397799 |
352 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA366980256 rs1234601477 |
354 | T>A | No |
ClinGen TOPMed |
|
|
CA366980316 rs1217102491 |
357 | S>P | No |
ClinGen gnomAD |
|
|
rs1015229308 CA366980337 |
358 | K>N | No |
ClinGen TOPMed |
|
|
rs1280341115 CA366980346 |
359 | P>L | No |
ClinGen gnomAD |
|
|
rs200523728 CA4187156 |
361 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366980359 rs200523728 |
361 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4187157 rs775633745 |
366 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366980439 rs1562613224 |
367 | S>N | No |
ClinGen Ensembl |
|
|
rs768977051 CA366980445 CA4187159 |
367 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs144623568 CA4187158 |
367 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366980490 rs1484883710 |
371 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1474964260 CA366980501 |
371 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761652718 CA4187161 COSM1088584 |
372 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA366980538 rs1425360670 |
375 | A>G | No |
ClinGen gnomAD |
|
|
CA366980547 rs1562613266 |
377 | S>G | No |
ClinGen Ensembl |
|
|
rs767360407 CA4187162 |
379 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA366980568 rs1163626647 |
380 | I>V | No |
ClinGen gnomAD |
|
|
CA4187163 rs577181549 |
382 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366980586 rs1291050449 |
383 | D>N | No |
ClinGen TOPMed |
|
|
rs376366312 CA4187165 |
384 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388592044 CA366980597 |
384 | N>S | No |
ClinGen TOPMed |
|
|
rs753327186 CA4187166 |
385 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA366980601 rs1398555170 |
385 | V>M | No |
ClinGen gnomAD |
|
|
rs1326581633 CA366980626 |
388 | T>I | No |
ClinGen TOPMed |
|
|
rs1232876823 CA366980630 |
389 | P>H | No |
ClinGen gnomAD |
|
|
rs752365632 CA4187169 |
391 | D>G | No |
ClinGen ExAC gnomAD |
|
|
VAR_050572 CA4187168 rs13243961 |
391 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs935634918 CA4187170 |
392 | K>* | No |
ClinGen Ensembl |
|
|
VAR_050573 CA4187172 rs34902971 |
392 | K>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366980668 rs1429376986 |
395 | V>G | No |
ClinGen TOPMed |
|
|
CA366980677 rs1421356741 |
397 | E>K | No |
ClinGen TOPMed |
|
|
CA366980689 rs1418362252 |
398 | L>R | No |
ClinGen gnomAD |
|
|
rs896684562 CA155265881 |
399 | E>G | No |
ClinGen gnomAD |
|
|
CA4187173 rs781621474 |
401 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366980713 rs1485341285 |
402 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 402 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214214921 CA366980724 |
403 | S>C | No |
ClinGen gnomAD |
|
|
rs750817913 CA4187174 |
405 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1583783383 CA366980746 |
406 | F>C | No |
ClinGen Ensembl |
|
|
rs1184581971 CA366980742 |
406 | F>L | No |
ClinGen TOPMed |
|
|
CA4187175 rs756629154 |
407 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs780473872 CA4187176 |
409 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs925086136 CA155265882 |
409 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 411 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA155265883 rs267601462 |
412 | P>S | No |
ClinGen Ensembl |
|
|
rs1583783405 CA366980804 |
413 | L>F | No |
ClinGen Ensembl |
|
|
CA366980819 rs1366276174 |
414 | K>T | No |
ClinGen gnomAD |
|
|
CA366980851 rs1473497569 |
415 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366980897 rs1215551124 |
417 | P>R | No |
ClinGen TOPMed |
|
|
rs749347742 CA4187177 |
417 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768878971 CA4187178 |
420 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4187179 rs180753026 |
421 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1361555600 CA366980999 |
422 | N>K | No |
ClinGen gnomAD |
No associated diseases with O15504
1 regional properties for O15504
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, CCCH-type | 1 - 25 | IPR000571 |
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 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 membrane | Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| nuclear export signal receptor activity | Combining with a nuclear export signal (NES) on a cargo to be transported, to mediate transport of a the cargo through the nuclear pore, from the nuclear lumen to the cytoplasm. The cargo can be either a RNA or a protein. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| nucleocytoplasmic transport | The directed movement of molecules between the nucleus and the cytoplasm. |
| protein export from nucleus | The directed movement of a protein from the nucleus into the cytoplasm. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8CIC2 | Nup42 | Nucleoporin NUP42 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAICQFFLQG | RCRFGDRCWN | EHPGARGAGG | GRQQPQQQPS | GNNRRGWNTT | SQRYSNVIQP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSFSKSTPWG | GSRDQEKPYF | SSFDSGASTN | RKEGFGLSEN | PFASLSPDEQ | KDEKKLLEGI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VKDMEVWESS | GQWMFSVYSP | VKKKPNISGF | TDISPEELRL | EYHNFLTSNN | LQSYLNSVQR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LINQWRNRVN | ELKSLNISTK | VALLSDVKDG | VNQAAPAFGF | GSSQAATFMS | PGFPVNNSSS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DNAQNFSFKT | NSGFAAASSG | SPAGFGSSPA | FGAAASTSSG | ISTSAPAFGF | GKPEVTSAAS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FSFKSPAASS | FGSPGFSGLP | ASLATGPVRA | PVAPAFGGGS | SVAGFGSPGS | HSHTAFSKPS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SDTFGNSSIS | TSLSASSSII | ATDNVLFTPR | DKLTVEELEQ | FQSKKFTLGK | IPLKPPPLEL |
| LNV |