Q9H3M7
PR
Gene name |
TXNIP (VDUP1) |
Protein name |
Thioredoxin-interacting protein |
Names |
Thioredoxin-binding protein 2, Vitamin D3 up-regulated protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10628 |
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
12 structures for Q9H3M7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4GEI | X-ray | 150 A | A | 2-149 | PDB |
| 4GEJ | X-ray | 290 A | A/B/C/D/E/F/G/H/I/J | 2-149 | PDB |
| 4GFX | X-ray | 160 A | A | 4-154 | PDB |
| 4LL1 | X-ray | 200 A | A/C | 3-317 | PDB |
| 4LL4 | X-ray | 270 A | A/C | 3-317 | PDB |
| 4ROF | X-ray | 203 A | C/D | 327-338 | PDB |
| 4ROJ | X-ray | 195 A | D/E/F | 327-338 | PDB |
| 5CQ2 | X-ray | 140 A | B/C | 327-338 | PDB |
| 5DF6 | X-ray | 178 A | B/C | 371-382 | PDB |
| 5DWS | X-ray | 165 A | B/D/F/H | 327-338 | PDB |
| 5DZD | X-ray | 157 A | C/D | 327-338 | PDB |
| AF-Q9H3M7-F1 | Predicted | AlphaFoldDB |
415 variants for Q9H3M7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1054018 rs782378601 |
3 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs782266753 CA1054017 |
3 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1054019 rs781976936 |
5 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782203804 CA1054020 |
6 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342161277 rs1351757109 |
7 | I>F | No |
ClinGen TOPMed |
|
|
CA1054021 rs782324719 |
7 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1322263735 CA342161206 |
9 | S>A | No |
ClinGen TOPMed |
|
|
CA29839734 rs782302261 |
9 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1054023 rs782302261 |
9 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1559268088 CA342161114 |
11 | E>K | No |
ClinGen Ensembl |
|
|
CA1054026 rs138655999 |
12 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1054025 rs138655999 |
12 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA342160997 rs1289291950 |
13 | V>A | No |
ClinGen TOPMed |
|
|
rs1553766622 CA342160982 |
14 | F>L | No |
ClinGen gnomAD |
|
|
CA1054028 rs781809233 |
15 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1052757341 CA29839720 |
15 | N>I | No |
ClinGen gnomAD |
|
|
rs782054133 CA1054029 |
16 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1490135831 CA342160908 |
16 | D>N | No |
ClinGen TOPMed |
|
|
CA342160845 rs1553766613 |
17 | P>L | No |
ClinGen gnomAD |
|
|
CA342160846 rs1553766613 |
17 | P>R | No |
ClinGen gnomAD |
|
|
rs782821072 CA1054030 |
17 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054032 rs782522899 |
18 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054031 rs781888294 |
18 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201616233 CA1054033 |
19 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782477568 CA1054035 |
22 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342160610 rs1553766604 |
24 | G>S | No |
ClinGen gnomAD |
|
|
rs782574435 CA1054036 |
25 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29839653 rs998544962 |
28 | A>T | No |
ClinGen gnomAD |
|
|
CA342160438 rs1308209244 |
29 | G>D | No |
ClinGen TOPMed |
|
|
rs782138298 CA1054039 |
30 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054038 rs782414851 |
30 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA342160364 rs1571021978 |
31 | V>G | No |
ClinGen Ensembl |
|
|
CA1054040 rs782255926 |
32 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1054042 rs781961225 |
34 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571021946 CA342160240 |
35 | V>G | No |
ClinGen Ensembl |
|
|
CA1054043 rs782073095 |
35 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1054044 rs782315054 |
37 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1054045 rs782036651 |
37 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1054046 rs373384569 |
38 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373384569 CA1054047 |
38 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781989588 CA1054048 |
39 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1358397679 CA342160117 |
40 | R>C | No |
ClinGen TOPMed |
|
|
rs1205624738 CA342160114 |
40 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1205624738 CA342160111 |
40 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1436285783 CA342160109 |
41 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1436285783 CA342160108 |
41 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA342160057 rs1553766565 |
44 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782102956 CA1054049 |
45 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA29839592 rs112506132 |
49 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112506132 CA29839593 |
49 | C>S | No |
ClinGen gnomAD |
|
|
CA29839588 rs199588693 |
51 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs782430981 CA1054052 |
52 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29839580 rs782430981 |
52 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054053 rs201153026 |
53 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054054 rs781877709 |
54 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA342159800 rs1553766552 |
55 | L>F | No |
ClinGen gnomAD |
|
|
CA1054055 rs782523238 |
55 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA342159717 rs1553766548 |
57 | M>K | No |
ClinGen gnomAD |
|
|
CA1054057 rs202190036 CA342159726 |
57 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553766548 CA342159700 |
57 | M>R | No |
ClinGen gnomAD |
|
|
rs1553766548 CA342159704 |
57 | M>T | No |
ClinGen gnomAD |
|
|
rs202190036 CA1054056 |
57 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1553766544 CA342159680 |
58 | Q>R | No |
ClinGen gnomAD |
|
|
CA342159656 rs1553766543 |
59 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1327811084 CA342159577 |
63 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA342159568 rs1359192483 |
63 | C>Y | No |
ClinGen TOPMed |
|
|
CA29839569 rs782000938 |
64 | K>* | No |
ClinGen Ensembl |
|
|
CA29839566 rs1049384861 |
64 | K>R | No |
ClinGen gnomAD |
|
|
rs1454135792 CA342159468 |
66 | T>I | No |
ClinGen TOPMed |
|
|
rs782574973 CA342159449 |
67 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782574973 CA1054059 |
67 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1381950911 CA342159439 |
68 | E>Q | No |
ClinGen TOPMed |
|
|
rs199649755 CA1054060 |
69 | Y>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 69 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1054062 rs782002791 |
71 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279646169 CA342159309 |
72 | Y>C | No |
ClinGen TOPMed |
|
|
CA342159270 rs1553766520 |
74 | D>N | No |
ClinGen gnomAD |
|
|
rs781960064 CA29839538 |
75 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA1054065 rs781960064 |
75 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs781960064 CA29839535 |
75 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553766515 CA342159229 |
76 | L>F | No |
ClinGen gnomAD |
|
|
rs144608399 CA1054067 |
77 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA29839506 rs757942355 |
80 | D>G | No |
ClinGen Ensembl |
|
|
rs782749501 CA342159070 |
82 | P>L | No |
ClinGen Ensembl |
|
|
rs782762198 CA1054072 |
83 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1465743565 CA342159042 |
84 | G>R | No |
ClinGen TOPMed |
|
|
rs375884767 CA342156634 |
86 | N>S | No |
ClinGen ESP TOPMed |
|
|
CA342156638 rs1490242996 |
86 | N>Y | No |
ClinGen TOPMed |
|
|
CA342156601 rs1234639416 |
88 | M>V | No |
ClinGen TOPMed |
|
|
CA342156551 rs1571020559 |
89 | V>G | No |
ClinGen Ensembl |
|
|
rs782589907 CA1054129 |
89 | V>M | No |
ClinGen ExAC |
|
|
rs782421516 CA1054131 |
90 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs11537986 CA342156486 |
92 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA29839077 rs11537986 |
92 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs141820440 CA1054132 |
93 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA29839075 rs994958726 |
95 | N>D | No |
ClinGen Ensembl |
|
|
rs782247081 CA29839073 |
95 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782247081 CA1054133 |
95 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1553766361 CA342156376 |
96 | K>E | No |
ClinGen gnomAD |
|
|
CA342156346 rs1446753401 |
97 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1054134 rs782366789 |
97 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1014683552 CA29839067 |
98 | E>K | No |
ClinGen gnomAD |
|
|
CA1054137 rs782382403 |
100 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs782204023 CA1054136 |
100 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1008707048 CA29839063 |
100 | K>R | No |
ClinGen gnomAD |
|
|
rs782028885 CA29839059 |
101 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1054139 rs782138216 |
102 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140787249 CA1054140 |
104 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA342156133 rs1439425210 |
106 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1439425210 CA342156139 |
106 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781981674 CA1054141 |
106 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330529166 CA342156115 |
107 | Q>R | No |
ClinGen TOPMed |
|
|
rs782100691 CA1054143 |
108 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782617606 CA1054175 |
109 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs950236811 CA29838919 |
109 | P>H | No |
ClinGen gnomAD |
|
|
CA342155831 rs950236811 |
109 | P>L | No |
ClinGen gnomAD |
|
|
rs782617606 CA342155850 |
109 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA29838914 rs917500336 |
110 | L>P | No |
ClinGen Ensembl |
|
|
CA29838916 rs200312270 |
110 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1054178 rs782567229 |
113 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1474207349 CA342155509 |
119 | G>A | No |
ClinGen TOPMed |
|
|
CA1054183 rs782338635 |
120 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553766301 CA342155491 |
120 | C>Y | No |
ClinGen gnomAD |
|
|
CA1054184 rs781947465 |
121 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA342155432 rs199525845 |
122 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342155423 rs1429327173 |
122 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1054185 rs199525845 |
122 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1054186 rs782815902 |
123 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA342155382 rs1553766297 |
124 | W>R | No |
ClinGen gnomAD |
|
|
rs1571020056 CA342155330 |
125 | V>A | No |
ClinGen Ensembl |
|
|
CA342155335 rs1470681582 |
125 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs147492715 CA1054187 |
127 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571020030 CA342155175 |
130 | D>A | No |
ClinGen Ensembl |
|
|
CA342155169 rs920233329 |
130 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 130 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782129078 CA1054188 |
131 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs369510121 CA1054189 |
131 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369510121 CA342155154 |
131 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1054190 rs371595311 |
132 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371595311 CA1054191 |
132 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs961757846 CA29838879 |
132 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1553766289 CA342155096 |
133 | S>R | No |
ClinGen gnomAD |
|
|
CA1054193 rs781787179 |
134 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs36108019 CA1054194 |
134 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA1054195 rs782653734 |
135 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559266841 CA342155025 |
137 | Q>E | No |
ClinGen Ensembl |
|
|
rs782361697 CA342155003 |
138 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782361697 CA1054197 |
138 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342154959 rs1553766281 |
140 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559266821 CA342154911 |
142 | N>T | No |
ClinGen Ensembl |
|
|
rs782198975 CA1054199 |
143 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553766279 CA342154848 |
144 | E>D | No |
ClinGen gnomAD |
|
|
CA342154869 rs1282555186 |
144 | E>K | No |
ClinGen TOPMed |
|
|
rs1553766275 CA342154835 |
145 | V>A | No |
ClinGen gnomAD |
|
|
CA1054200 rs782316344 |
146 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs782149404 CA1054202 |
147 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1054204 rs782386119 |
149 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054203 rs782386119 |
149 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782094297 CA1054205 |
151 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1008675758 CA29838842 |
152 | N>H | No |
ClinGen TOPMed |
|
|
CA342154668 rs1269169346 |
153 | T>N | No |
ClinGen TOPMed |
|
|
CA29838840 rs781803094 |
154 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1054207 rs781803094 |
154 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1196644309 CA342154651 |
154 | P>S | No |
ClinGen TOPMed |
|
|
CA342154614 rs1376633160 |
156 | L>V | No |
ClinGen TOPMed |
|
|
CA342154574 rs1553766261 |
157 | M>K | No |
ClinGen gnomAD |
|
|
CA29838836 rs782817728 |
157 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054209 rs782817728 |
157 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054241 rs782206350 |
158 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 159 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782446827 CA1054242 |
159 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293186915 CA342154292 |
160 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1553766221 CA342154253 |
161 | S>F | No |
ClinGen gnomAD |
|
|
rs868915188 CA342154247 |
162 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 165 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1054246 rs782403189 |
166 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs782295244 CA1054245 |
166 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781999351 CA1054247 |
167 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | K>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782691020 | 167 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1054248 rs782226266 |
168 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs781935126 CA1054250 |
169 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781935126 CA1054251 |
169 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782344734 CA1054249 |
169 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342154088 rs782344734 |
169 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342154058 rs1264522069 |
170 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs782027891 CA1054253 |
171 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342154034 rs1339394132 |
171 | M>L | No |
ClinGen TOPMed |
|
|
CA342153989 rs1553766206 |
173 | I>L | No |
ClinGen gnomAD |
|
|
CA342153988 rs1553766206 |
173 | I>V | No |
ClinGen gnomAD |
|
|
rs34791738 CA1054255 |
174 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1054258 VAR_048334 rs6674773 |
177 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1054256 rs143973146 |
177 | R>W | No |
ClinGen ESP ExAC TOPMed |
|
|
rs587599744 CA1054259 |
178 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA342153855 rs1553766194 |
178 | V>L | No |
ClinGen gnomAD |
|
|
CA342153809 rs781783114 |
179 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054260 rs781783114 |
179 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342153814 rs781783114 |
179 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054262 rs782551105 |
181 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA342153689 rs1166227676 |
183 | R>L | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342153673 rs1553766185 |
184 | I>M | No |
ClinGen gnomAD |
|
|
CA342153685 rs1399696644 |
184 | I>V | No |
ClinGen TOPMed |
|
|
CA1054263 rs782665446 |
185 | D>N | No |
ClinGen ExAC |
|
|
CA342153584 rs1553766182 |
187 | K>R | No |
ClinGen gnomAD |
|
|
CA342153225 rs1553766149 |
194 | E>G | No |
ClinGen gnomAD |
|
|
rs782365777 CA1054299 |
198 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs782253445 CA1054298 |
198 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782662339 CA1054300 |
200 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553766147 CA342153096 |
200 | D>N | No |
ClinGen gnomAD |
|
|
rs782190073 CA1054301 |
202 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs148233092 CA342152985 |
203 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342152889 rs782143507 |
206 | S>A | No |
ClinGen Ensembl |
|
|
rs1201666246 CA342152862 |
207 | R>Q | No |
ClinGen TOPMed |
|
|
CA29838327 rs1056356971 |
210 | V>A | No |
ClinGen Ensembl |
|
|
rs895916805 CA29838342 |
210 | V>I | No |
ClinGen gnomAD |
|
|
CA29838321 rs899402692 |
211 | P>S | No |
ClinGen TOPMed |
|
|
CA1054305 rs782142345 |
212 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78314479 CA29838300 |
213 | A>P | No |
ClinGen Ensembl |
|
|
CA1054306 rs199806476 |
215 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1054307 rs781980100 |
217 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1054308 rs781980100 |
217 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA342150949 rs1553766134 |
217 | A>V | No |
ClinGen gnomAD |
|
|
CA1054309 rs141784143 |
218 | R>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs781792025 CA1054310 |
218 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1054312 rs782768346 |
219 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1054311 rs587776038 |
219 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782499695 CA1054314 |
220 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs781878987 CA1054313 |
220 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs1295903792 CA888561860 |
221 | Y>* | No |
ClinGen TOPMed |
|
|
CA342150782 rs1553766128 |
223 | A>V | No |
ClinGen gnomAD |
|
|
CA1054316 rs781818435 |
224 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1304399618 CA342150730 |
226 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 228 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571018638 CA342150584 |
229 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 229 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342150537 rs1553766121 |
231 | T>A | No |
ClinGen gnomAD |
|
|
rs1553766115 CA342150410 |
236 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1054322 rs782641760 |
237 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 237 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 238 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA342150369 rs1237702736 |
238 | R>K | No |
ClinGen TOPMed |
|
|
rs1553766112 CA342150338 |
240 | N>Y | No |
ClinGen gnomAD |
|
|
CA342150319 rs1553766107 |
241 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 242 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1054325 rs199530010 |
242 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1054324 rs782357528 |
242 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA342150281 rs1490572849 |
243 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1553766102 CA342150277 |
243 | I>N | No |
ClinGen gnomAD |
|
|
CA342150280 rs1490572849 |
243 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA342150247 rs1225052982 |
244 | S>P | No |
ClinGen TOPMed |
|
|
rs782186160 CA1054326 CA342150216 |
245 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs370801661 CA1054329 |
247 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370801661 CA1054328 |
247 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA29838178 rs782785376 |
247 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342150141 rs1553766092 |
247 | C>Y | No |
ClinGen gnomAD |
|
|
CA342150114 rs1553766090 |
248 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1054331 rs587752897 |
248 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1054333 rs587648434 |
249 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA29838169 rs200829595 |
251 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1054334 rs185942731 |
251 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs921724950 CA29838163 |
252 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1054337 rs781868836 |
256 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054338 rs781868836 |
256 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054336 rs782789090 |
256 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1054340 rs782194666 |
257 | V>F | No |
ClinGen ExAC |
|
|
CA342149718 rs1559265984 |
258 | Q>R | No |
ClinGen Ensembl |
|
|
CA1054341 rs782437497 |
259 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA29838097 rs1032186413 |
260 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs782687699 CA1054342 |
260 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs977964700 CA29838074 |
261 | R>T | No |
ClinGen Ensembl |
|
|
CA29838070 rs749397508 |
262 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA29838061 rs749397508 |
262 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA342149566 rs749397508 |
262 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1054344 rs782282846 |
263 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA342149537 rs1444557137 |
263 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1054343 rs782282846 |
263 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs377445149 CA342149497 |
264 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1054345 rs377445149 |
264 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781934677 CA1054348 |
266 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 267 | C>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782015465 CA1054351 |
269 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054352 rs782132353 |
270 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA29838008 rs782773453 |
271 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054354 rs201978007 |
271 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1054355 rs782080825 |
273 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs147236708 CA1054357 |
275 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1002032286 CA342149055 |
277 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | I>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553766019 CA342148700 |
279 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782197647 CA1054388 |
281 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1054389 rs759230232 |
281 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054391 rs782262889 |
282 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054392 rs782262889 |
282 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342148610 rs1553766013 |
283 | P>A | No |
ClinGen gnomAD |
|
|
rs191838229 CA1054393 |
285 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191838229 CA342148514 |
285 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 287 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29837701 rs782235105 |
287 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA342148419 rs782626210 |
287 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs148536510 CA342148398 |
288 | V>A | No |
ClinGen ESP |
|
|
rs1553766008 CA342148364 |
290 | L>F | No |
ClinGen gnomAD |
|
|
CA342148337 rs1416171784 |
290 | L>R | No |
ClinGen TOPMed |
|
|
rs1571017877 CA342148310 |
291 | D>A | No |
ClinGen Ensembl |
|
|
CA1054394 rs368295042 |
291 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1553766003 CA342148333 |
291 | D>H | No |
ClinGen gnomAD |
|
|
rs1553765999 CA342148261 |
293 | P>L | No |
ClinGen gnomAD |
|
|
CA29837589 rs977935310 |
293 | P>T | No |
ClinGen Ensembl |
|
|
CA1054400 rs782507157 |
296 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs781865277 CA1054399 |
296 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1054401 rs782742392 |
298 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA342148009 rs1284068107 |
301 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA342147980 rs1199283151 |
302 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 302 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1054403 rs782455652 |
304 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054404 rs782567642 |
304 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1054405 rs782283277 |
305 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs782515797 CA1054406 |
307 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1553765991 CA342147783 |
308 | S>G | No |
ClinGen gnomAD |
|
|
CA1054408 rs782230077 |
308 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342147582 rs1264881897 |
312 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1054410 rs150672123 |
312 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150672123 CA1054409 |
312 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA342147500 rs1553765986 |
313 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782188357 CA1054411 |
318 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054412 rs782413001 |
321 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1054413 rs782009898 |
321 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs782125277 CA342147091 |
322 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342147088 rs782125277 |
322 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29837383 rs781968828 |
324 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782163397 CA342146978 |
325 | P>L | No |
ClinGen gnomAD |
|
|
CA29837375 rs782163397 |
325 | P>R | No |
ClinGen gnomAD |
|
|
rs782713291 CA1054418 |
327 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 327 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29837365 rs782713291 |
327 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342146842 rs1303802861 |
328 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA342146850 rs1303802861 |
328 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1553765927 CA342146428 |
330 | A>V | No |
ClinGen gnomAD |
|
|
rs782719383 CA1054444 |
331 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA29837206 rs759303282 |
331 | P>L | No |
ClinGen Ensembl |
|
|
CA1054443 rs782719383 |
331 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782528709 CA1054445 |
332 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288609071 CA342146371 |
333 | C>S | No |
ClinGen TOPMed |
|
|
CA342146365 rs1458133180 |
333 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1052056836 CA29837191 |
334 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs781854032 CA1054448 |
335 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1054449 rs782589505 |
335 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1054447 rs781854032 |
335 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553765914 CA342146270 |
336 | D>G | No |
ClinGen gnomAD |
|
|
CA342146219 rs1571017197 |
338 | I>V | No |
ClinGen Ensembl |
|
|
CA1054453 rs782690430 |
339 | P>L | No |
ClinGen ExAC |
|
|
rs782376970 CA1054455 |
340 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA342146147 rs1571017177 |
341 | D>H | No |
ClinGen Ensembl |
|
|
RCV000900463 CA1054456 rs72563166 |
343 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs936377679 CA29837113 |
344 | L>W | No |
ClinGen Ensembl |
|
|
CA1054457 rs199961793 |
348 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA342145937 rs1553765905 |
349 | T>I | No |
ClinGen gnomAD |
|
|
CA342145940 rs1553765905 |
349 | T>S | No |
ClinGen gnomAD |
|
|
CA1054459 rs781925117 |
350 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs782167280 CA1054461 |
350 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054460 rs782167280 |
350 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329949570 CA342145893 |
352 | L>Q | No |
ClinGen TOPMed |
|
|
CA1054462 rs781862931 |
352 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782110580 CA1054464 |
353 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs781783010 CA342145842 |
354 | D>G | No |
ClinGen Ensembl |
|
|
CA29837060 rs782741214 |
355 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA1054465 rs782741214 |
355 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA342145824 rs1453857051 |
355 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1054467 rs781820408 |
358 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1054466 rs781820408 |
358 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782546229 CA1054470 |
359 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1054469 rs781900003 |
359 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs782233828 CA1054472 |
360 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1054471 rs150987946 RCV000958472 |
360 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782590225 CA1054474 |
361 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1054473 rs782475826 |
361 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs782189360 CA1054476 |
362 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782189360 CA29836984 |
362 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042229645 CA29836983 |
363 | I>T | No |
ClinGen gnomAD |
|
|
CA342145601 rs1553765880 |
363 | I>V | No |
ClinGen gnomAD |
|
|
rs781950165 CA29836980 |
367 | A>D | No |
ClinGen gnomAD |
|
|
rs781950165 CA342145440 |
367 | A>V | No |
ClinGen gnomAD |
|
|
rs868924653 CA342145414 |
368 | P>L | No |
ClinGen Ensembl |
|
|
CA342145335 rs1571016916 |
371 | K>Q | No |
ClinGen Ensembl |
|
|
rs782372285 CA1054480 |
372 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422263755 CA342145317 |
372 | F>V | No |
ClinGen TOPMed |
|
|
CA1054481 rs781962171 |
374 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781962171 CA29836918 |
374 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA342145167 rs1553765867 |
375 | P>L | No |
ClinGen gnomAD |
|
|
rs146111136 CA1054482 |
376 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553765865 CA342145130 |
376 | P>S | No |
ClinGen gnomAD |
|
|
rs781873009 CA1054484 |
378 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs587751067 CA342145054 |
378 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1054486 rs782165505 |
379 | T>I | No |
ClinGen ExAC |
|
|
CA1054523 rs373329603 |
381 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1054524 rs782445880 |
382 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA342144565 rs1159622162 |
383 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1054525 rs782681403 |
384 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421091456 CA342144512 |
384 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1156495124 CA342144488 |
385 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1344028456 CA342144375 |
387 | N>K | No |
ClinGen TOPMed |
|
|
rs782389648 CA1054527 |
388 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA342144349 rs782309079 |
388 | N>S | No |
ClinGen Ensembl |
|
|
CA342144326 rs1294836117 |
389 | N>S | No |
ClinGen TOPMed |
|
| rs1553765789 | 389 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs903603536 CA29836547 |
390 | V>A | No |
ClinGen Ensembl |
|
|
rs1553765784 CA342144291 |
390 | V>M | No |
ClinGen gnomAD |
|
|
CA1054528 rs782620405 |
391 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA29836538 rs587720227 |
391 | Q>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA342144253 rs587720227 |
391 | Q>R | No |
ClinGen 1000Genomes gnomAD |
No associated diseases with Q9H3M7
4 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. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme inhibitor activity | Binds to and stops, prevents or reduces the activity of an enzyme. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
17 GO annotations of biological process
| Name | Definition |
|---|---|
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cellular response to tumor cell | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a tumor cell. |
| keratinocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. |
| negative regulation of cell division | Any process that stops, prevents, or reduces the frequency, rate or extent of cell division. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| platelet-derived growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| 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. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| response to calcium ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| response to estradiol | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of stimulus by estradiol, a C18 steroid hormone hydroxylated at C3 and C17 that acts as a potent estrogen. |
| response to glucose | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. |
| response to hydrogen peroxide | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus. |
| response to mechanical stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus. |
| response to progesterone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a progesterone stimulus. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, 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. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVMFKKIKSF | EVVFNDPEKV | YGSGEKVAGR | VIVEVCEVTR | VKAVRILACG | VAKVLWMQGS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QQCKQTSEYL | RYEDTLLLED | QPTGENEMVI | MRPGNKYEYK | FGFELPQGPL | GTSFKGKYGC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VDYWVKAFLD | RPSQPTQETK | KNFEVVDLVD | VNTPDLMAPV | SAKKEKKVSC | MFIPDGRVSV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SARIDRKGFC | EGDEISIHAD | FENTCSRIVV | PKAAIVARHT | YLANGQTKVL | TQKLSSVRGN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HIISGTCASW | RGKSLRVQKI | RPSILGCNIL | RVEYSLLIYV | SVPGSKKVIL | DLPLVIGSRS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GLSSRTSSMA | SRTSSEMSWV | DLNIPDTPEA | PPCYMDVIPE | DHRLESPTTP | LLDDMDGSQD |
| 370 | 380 | 390 | |||
| SPIFMYAPEF | KFMPPPTYTE | VDPCILNNNV | Q |