Q9NYK1
EV
Gene name |
TLR7 (UNQ248/PRO285) |
Protein name |
Toll-like receptor 7 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51284 |
EC number |
|
Protein Class |
TOLL-LIKE RECEPTOR 7-RELATED (PTHR47410) |
Descriptions
TLR7 (Toll-like receptor 7) is an endosomal receptor that plays a key role in innate and adaptive immunity by recognizing pathogen-associated molecular patterns. TLR7 triggers antiviral immune responses by recognizing viral single-stranded RNA in endosomes. TLR7 is a type I transmembrane protein characterized by an extracellular leucine-rich repeat (LRR) domain, a transmembrane helix, and an intracellular Toll/interleukin-1 receptor (TIR) homology domain. Upon binding to agonists, TLR7 undergoes dimerization that brings TIR domains from the two molecules into direct contact, leading to the recruitment of TIR-containing downstream adapter MYD88 through homotypic interaction. TLR7 is also proteolytically cleaved in different human immune and nonimmune cells and that cleavage processing is required for functional activity. TLR7 cleavage generates within the loop between LRRs 14 and 15 and requires calcium-dependent serine proteases of the furin-like PC family.
Autoinhibitory domains (AIDs)
Target domain |
26-845 (LRR domains) |
Relief mechanism |
Cleavage |
Assay |
Mutagenesis experiment |
Accessory elements
No accessory elements
References
- Hipp MM et al. (2013) "Processing of human toll-like receptor 7 by furin-like proprotein convertases is required for its accumulation and activity in endosomes", Immunity, 39, 711-21
- Tanji H et al. (2016) "Autoinhibition and relief mechanism by the proteolytic processing of Toll-like receptor 8", Proceedings of the National Academy of Sciences of the United States of America, 113, 3012-7
Autoinhibited structure
Activated structure
2 structures for Q9NYK1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7CYN | EM | 420 A | A/B | 1-1049 | PDB |
| AF-Q9NYK1-F1 | Predicted | AlphaFoldDB |
493 variants for Q9NYK1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_087534 | 28 | R>G | SLEB17; increased NFKB1 activation after stimulation with guanosine and ssRNA [UniProt] | Yes | UniProt |
| VAR_087535 | 264 | Y>H | SLEB17; increased NFKB1 activation after stimulation with cGMP [UniProt] | Yes | UniProt |
| VAR_087536 | 507 | F>L | SLEB17; increased NFKB1 activation after stimulation with cGMP [UniProt] | Yes | UniProt |
|
RCV001254821 rs2042915990 |
710 | Q>missing | Immunodeficiency 74, COVID-19-related, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_084629 RCV001254822 rs200553089 CA326797155 |
795 | V>F | Immunodeficiency 74, COVID-19-related, X-linked IMD74; no enhanced expression after stimulation by imiquimod; defective up-regulation of type I IFN-related genes; decreased expression of IFNG [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs755364962 CA326797064 |
2 | V>M | No |
ClinGen Ensembl |
|
|
CA412403606 rs1258108007 |
4 | P>L | No |
ClinGen gnomAD |
|
|
rs1480048433 CA412403615 |
5 | M>L | No |
ClinGen gnomAD |
|
|
rs1174969183 CA412403639 |
6 | W>* | No |
ClinGen gnomAD |
|
|
CA326797065 rs781486181 |
7 | T>P | No |
ClinGen Ensembl |
|
|
CA326797066 rs371046642 |
8 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1191062173 CA412403686 |
9 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1490750885 CA412403689 |
10 | R>G | No |
ClinGen TOPMed |
|
|
CA10349890 rs756933603 |
11 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
VAR_034554 rs179008 CA10349891 |
11 | Q>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs179008 CA326797067 |
11 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA326797069 rs952821919 |
15 | L>I | No |
ClinGen Ensembl |
|
| COSM1465494 | 16 | F>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412403778 rs1602438494 |
16 | F>S | No |
ClinGen Ensembl |
|
|
rs1489798746 CA412403883 |
23 | K>R | No |
ClinGen TOPMed |
|
|
CA412403907 rs1354435927 |
25 | L>P | No |
ClinGen gnomAD |
|
|
rs202195261 CA326797070 |
25 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 27 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412403928 rs1299955214 |
27 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412403983 rs1298719672 |
30 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM4106560 rs1218801965 CA412403988 |
31 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
| TCGA novel | 33 | T>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM2725531 | 35 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1236184253 CA412404085 |
38 | V>I | No |
ClinGen gnomAD |
|
|
CA10349898 rs373668842 |
40 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs757348701 CA326797071 |
41 | D>E | No |
ClinGen Ensembl |
|
|
rs763384185 CA10349899 |
41 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA412404121 rs1602438547 |
42 | V>A | No |
ClinGen Ensembl |
|
|
rs1306830975 CA412404133 |
44 | K>R | No |
ClinGen gnomAD |
|
|
rs766652668 CA10349900 |
46 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1347564910 CA412404168 |
49 | V>A | No |
ClinGen TOPMed |
|
|
CA10349902 rs141847327 |
49 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752222864 CA10349904 |
55 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA326797073 rs961142291 |
55 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM5877059 | 60 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10349905 rs755519400 |
61 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA412404249 rs1404650069 |
61 | G>R | No |
ClinGen TOPMed |
|
|
rs958741253 COSM1114904 CA326797074 |
62 | G>C | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 64 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200329031 COSM2156581 CA326797075 |
65 | T>M | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs752095862 CA10349906 |
67 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1411084015 CA412404293 |
68 | T>M | No |
ClinGen TOPMed |
|
| COSM456727 | 70 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1315197 | 83 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10349909 rs143823510 |
83 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10349912 rs200654867 |
86 | H>L | No |
ClinGen ExAC gnomAD |
|
| COSM1490476 | 91 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10349913 COSM1331264 rs201304033 |
92 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA326797078 rs200138463 |
95 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| COSM4850033 | 96 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412404534 rs1476909613 |
104 | P>T | No |
ClinGen TOPMed |
|
|
CA10349918 rs774725136 |
113 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs774725136 CA412404598 |
113 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs774725136 CA412404599 |
113 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10349920 rs201467088 |
117 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412404633 rs1569109178 |
118 | I>V | No |
ClinGen Ensembl |
|
|
CA412404665 rs1325766304 |
122 | S>R | No |
ClinGen TOPMed |
|
|
CA412404688 rs1461048823 |
125 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10349923 rs150313957 |
127 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM1114906 | 131 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1396972847 CA412404736 |
133 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 134 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761341580 CA10349925 |
138 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764943161 CA10349926 |
140 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA10349927 rs779884561 |
142 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs137927123 CA10349928 |
145 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137927123 CA412404818 |
145 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10349929 rs780148231 |
146 | L>F | No |
ClinGen ExAC gnomAD |
|
| COSM1472264 | 147 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs777679420 CA10349932 |
149 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 151 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771077690 CA10349934 |
151 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3843525 | 153 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1569109239 CA412404863 |
153 | L>I | No |
ClinGen Ensembl |
|
|
CA412404918 rs1218378022 |
160 | I>N | No |
ClinGen gnomAD |
|
|
CA326797081 rs868376813 |
162 | S>F | No |
ClinGen gnomAD |
|
|
rs1185901355 CA412404961 |
166 | E>D | No |
ClinGen gnomAD |
|
| COSM755408 | 170 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1420056664 CA412404983 |
170 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 172 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412405014 rs1383034148 |
174 | I>M | No |
ClinGen gnomAD |
|
|
CA412405012 rs1158264358 |
174 | I>T | No |
ClinGen gnomAD |
|
|
CA326797082 rs200424237 |
174 | I>V | No |
ClinGen TOPMed |
|
|
rs1398806911 CA412405016 |
175 | E>Q | No |
ClinGen gnomAD |
|
|
rs1320032380 CA412405032 |
177 | L>F | No |
ClinGen gnomAD |
|
|
CA412405037 rs1602438826 |
178 | Y>H | No |
ClinGen Ensembl |
|
|
CA10349936 rs746234740 |
179 | L>R | No |
ClinGen ExAC gnomAD |
|
| COSM3557704 | 184 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1114909 | 186 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3557705 CA326797084 rs868177091 |
186 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs776034007 CA10349938 |
188 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs776034007 CA10349939 |
188 | P>R | No |
ClinGen ExAC gnomAD |
|
| COSM3557706 | 188 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3973231 | 189 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1469443305 CA412405130 |
191 | V>A | No |
ClinGen TOPMed |
|
|
CA10349940 rs144771387 |
192 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201444887 CA326797085 |
195 | I>M | No |
ClinGen Ensembl |
|
|
rs1225846451 CA412405155 |
195 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1602438881 CA412405159 |
196 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 199 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138717086 CA10349942 |
200 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412405219 rs1209673219 |
204 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 214 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM456728 | 215 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412405319 rs1320272321 |
219 | V>A | No |
ClinGen gnomAD |
|
|
CA412405320 rs1320272321 |
219 | V>G | No |
ClinGen gnomAD |
|
|
CA10349949 rs149314023 RCV000967895 COSM1465495 |
219 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs753875075 CA10349951 |
221 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs55907843 CA10349953 RCV000882881 |
222 | V>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757257297 CA10349952 |
222 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA326797089 rs200884477 |
224 | P>T | No |
ClinGen TOPMed |
|
|
rs1327532271 CA412405352 |
225 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA412405370 rs1602438963 |
228 | T>K | No |
ClinGen Ensembl |
|
| COSM1114910 | 229 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM258189 | 232 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6184905 | 232 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM456729 | 236 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412405425 rs772473903 |
236 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA10349955 rs772473903 |
236 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs747359081 CA10349957 |
242 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs867083961 CA326797092 |
242 | E>G | No |
ClinGen Ensembl |
|
| COSM1465496 | 245 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA326797093 rs867568508 |
248 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 248 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1602438990 CA412405550 |
253 | I>L | No |
ClinGen Ensembl |
|
|
rs1003287550 CA326797094 |
253 | I>T | No |
ClinGen Ensembl |
|
| COSM1229407 | 254 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 256 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 260 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412405606 rs1243807491 |
261 | P>A | No |
ClinGen TOPMed |
|
|
CA412405613 rs1181291819 |
262 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA412405614 rs1171508003 |
262 | R>H | No |
ClinGen gnomAD |
|
|
CA412405630 rs1482317954 |
264 | Y>F | No |
ClinGen TOPMed |
|
|
rs868378372 CA326797097 |
269 | P>L | No |
ClinGen TOPMed |
|
|
CA326797096 rs867918501 COSM3557708 |
269 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
| COSM1114911 | 271 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1465497 rs141848808 CA10349964 |
271 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA412405682 rs1284412706 |
272 | P>L | No |
ClinGen TOPMed |
|
|
rs767358918 CA10349967 |
272 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412405720 rs1369785990 |
277 | S>F | No |
ClinGen gnomAD |
|
| COSM1682403 | 277 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1439238520 CA412405722 |
278 | P>A | No |
ClinGen gnomAD |
|
|
rs759793723 CA10349969 |
279 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765278612 CA10349970 |
283 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs201804650 CA326797100 |
285 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 286 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200146658 CA412405789 |
288 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200146658 CA10349972 |
288 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412405807 rs1304790317 |
291 | E>D | No |
ClinGen TOPMed |
|
|
CA10349974 rs747349276 |
291 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10349975 rs747349276 |
291 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412405816 rs1176289185 |
293 | K>E | No |
ClinGen gnomAD |
|
|
CA326797102 rs201092041 |
294 | V>A | No |
ClinGen TOPMed |
|
|
rs781655586 COSM5575224 CA10349976 |
296 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs748655746 COSM219002 CA10349977 |
296 | R>H | Variant assessed as Somatic; MODERATE impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA412405848 rs1191519671 |
298 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326797104 rs199881624 |
299 | S>G | No |
ClinGen Ensembl |
|
|
CA412405875 rs1422078379 |
302 | L>F | No |
ClinGen TOPMed |
|
|
rs1421796395 CA412405883 |
303 | Q>R | No |
ClinGen TOPMed |
|
|
rs770716877 CA10349981 |
307 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1602439130 CA412405925 |
309 | W>* | No |
ClinGen Ensembl |
|
|
rs773983742 CA10349982 |
311 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs201359066 CA10349983 |
315 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA412405973 rs1488121178 |
316 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 317 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 320 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326797107 rs867293797 |
323 | Q>H | No |
ClinGen Ensembl |
|
| COSM164944 | 325 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10349984 rs767328024 |
327 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412406087 rs1602439158 COSM4915121 |
328 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl |
|
CA412406121 rs1381988937 |
330 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1328692782 CA412406133 |
331 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412406129 rs1294110815 |
331 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs978435766 CA326797109 |
332 | D>E | No |
ClinGen Ensembl |
|
|
CA326797108 rs202129610 |
332 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 333 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10349985 rs200463301 |
334 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 336 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10349986 rs760573915 |
339 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | L>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 348 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296704444 CA412406357 |
350 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1416477908 CA412406420 |
355 | V>D | No |
ClinGen gnomAD |
|
|
rs922684733 CA412406418 |
355 | V>F | No |
ClinGen TOPMed |
|
|
rs922684733 CA326797110 |
355 | V>I | No |
ClinGen TOPMed |
|
|
COSM1114913 rs755359069 CA10349993 |
357 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781601963 CA10349994 |
357 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201181342 CA326797112 |
360 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| COSM1465498 | 367 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1477540671 CA412406574 |
369 | L>Q | No |
ClinGen TOPMed |
|
|
CA412406591 rs1453584223 |
371 | S>N | No |
ClinGen gnomAD |
|
|
rs1453584223 CA412406592 |
371 | S>T | No |
ClinGen gnomAD |
|
|
COSM1114914 CA10349996 rs756706437 |
376 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10349995 COSM5069307 rs748708984 |
376 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA10349997 rs778363770 |
378 | R>S | No |
ClinGen ExAC gnomAD |
|
| COSM1315198 | 378 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6184904 | 385 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1288901485 CA412406763 |
387 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10350000 rs778485716 |
388 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1465499 | 390 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1252418646 CA412406858 |
395 | N>H | No |
ClinGen TOPMed |
|
|
CA326797115 rs1012897715 |
395 | N>S | No |
ClinGen TOPMed |
|
|
rs1315560483 CA412406895 |
398 | N>D | No |
ClinGen TOPMed |
|
|
CA10350003 rs775294042 |
401 | V>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1114915 CA412406941 rs1231390513 |
402 | L>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| COSM3843526 | 404 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM264063 | 404 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 415 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350006 rs190564296 |
415 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM755406 | 415 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6184903 | 417 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 420 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412407198 rs1414082911 |
422 | R>S | No |
ClinGen gnomAD |
|
|
rs1602439278 CA412407225 |
425 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 426 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372359443 CA10350007 |
427 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382499230 CA412407277 |
430 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 434 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766470912 CA10350008 |
438 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 439 | S>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412407367 rs1372879708 |
440 | S>T | No |
ClinGen gnomAD |
|
|
rs1389850527 CA412407382 |
442 | V>D | No |
ClinGen gnomAD |
|
| COSM4849169 | 443 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 446 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751781498 CA10350009 |
447 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1355655166 CA412407420 |
448 | A>T | No |
ClinGen gnomAD |
|
|
RCV000969338 CA10350010 rs5743781 VAR_024665 |
448 | A>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA412407427 rs767598310 |
449 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs767598310 CA10350011 |
449 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 451 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345626413 CA412407447 |
452 | V>A | No |
ClinGen gnomAD |
|
|
rs897290640 CA326797119 |
455 | Y>C | No |
ClinGen Ensembl |
|
|
COSM3557713 CA412407482 rs1211619470 |
457 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM6117086 | 458 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350012 rs753120785 |
465 | Y>H | No |
ClinGen ExAC |
|
|
CA10350013 rs756477203 |
467 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs201027052 CA10350014 |
468 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs754381606 CA10350015 |
473 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 473 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350018 rs745328982 |
482 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412407690 rs1451995839 |
485 | M>I | No |
ClinGen gnomAD |
|
| COSM4106563 | 486 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs779625351 CA10350020 |
487 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA412407708 rs1377410128 |
488 | N>K | No |
ClinGen TOPMed |
|
|
CA10350021 rs150054181 |
489 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762945980 CA326797121 |
489 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| COSM755405 | 503 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6184902 | 504 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs764545107 COSM1465501 |
507 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA10350023 rs768437177 |
509 | K>E | No |
ClinGen ExAC |
|
|
CA412407864 rs776609734 |
510 | S>A | No |
ClinGen ExAC TOPMed |
|
|
rs776609734 CA10350024 |
510 | S>T | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 512 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761790675 CA10350025 |
513 | F>C | No |
ClinGen ExAC gnomAD |
|
| COSM3405952 | 519 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 521 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412407953 rs1306455183 |
523 | N>H | No |
ClinGen gnomAD |
|
|
CA326797123 rs199554407 |
525 | S>T | No |
ClinGen Ensembl |
|
| COSM1114917 | 528 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1264535581 CA412408002 |
530 | S>T | No |
ClinGen TOPMed |
|
|
CA326797124 rs766442623 |
534 | N>D | No |
ClinGen TOPMed |
|
|
rs1569109690 CA412408043 |
536 | S>T | No |
ClinGen Ensembl |
|
| COSM6117085 | 540 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs367693931 CA326797125 |
540 | P>T | No |
ClinGen Ensembl |
|
|
CA412408089 rs1457887286 |
543 | E>K | No |
ClinGen gnomAD |
|
|
CA412408091 rs1457887286 |
543 | E>Q | No |
ClinGen gnomAD |
|
|
CA326797126 rs200813286 |
545 | R>T | No |
ClinGen Ensembl |
|
| COSM1315199 | 548 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6117084 | 549 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs759490082 CA10350028 |
551 | N>K | No |
ClinGen ExAC |
|
|
CA412408161 rs1479303284 |
553 | R>W | No |
ClinGen gnomAD |
|
|
CA412408188 rs1419393304 |
557 | L>F | No |
ClinGen gnomAD |
|
|
rs1426888064 CA412408193 |
558 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 561 | A>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 562 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764529926 CA10350032 |
569 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 571 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34501186 CA326797128 |
576 | N>D | No |
ClinGen Ensembl |
|
| COSM267581 | 577 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs35160120 CA326797129 |
580 | F>S | No |
ClinGen Ensembl |
|
|
rs200956250 CA10350035 |
582 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3557719 | 584 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs968155471 CA326797131 |
587 | H>Q | No |
ClinGen Ensembl |
|
|
rs778897256 CA412408460 |
588 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778897256 CA10350036 |
588 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 594 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 596 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779750615 CA10350038 |
596 | K>Q | No |
ClinGen ExAC |
|
|
rs36076482 CA326797132 |
599 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 600 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6184901 | 602 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412408626 rs1167770549 |
602 | M>T | No |
ClinGen gnomAD |
|
|
CA326797133 CA10350039 rs55835602 |
603 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1455623426 COSM1729951 CA412408660 |
605 | D>N | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs754818308 CA10350040 |
606 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA326797134 rs36110053 |
610 | S>C | No |
ClinGen Ensembl |
|
|
rs1438454205 CA412408796 |
616 | M>I | No |
ClinGen TOPMed |
|
|
CA10350043 rs200131359 |
617 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA412408824 rs1485147368 |
618 | S>N | No |
ClinGen gnomAD |
|
|
CA326797135 rs34729893 |
620 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 622 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480931781 CA412408886 |
624 | L>V | No |
ClinGen Ensembl |
|
|
rs34014664 CA326797136 |
627 | R>I | No |
ClinGen Ensembl |
|
|
rs376953821 CA10350044 |
630 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs746023304 CA10350045 |
632 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs34557368 CA326797137 |
634 | L>* | No |
ClinGen Ensembl |
|
|
CA326797138 rs35337229 |
636 | R>T | No |
ClinGen Ensembl |
|
|
rs748065199 CA10350046 |
638 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs187685386 CA10350048 |
640 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775900630 CA326797139 |
640 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350047 rs775900630 |
640 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1114927 | 647 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3557720 | 654 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 657 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323900154 CA412409192 |
659 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 660 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3557721 | 663 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350051 rs762017849 |
663 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412409216 rs1398029517 |
663 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 664 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412409263 rs1340650739 COSM4932939 |
670 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA Cosmic |
| TCGA novel | 670 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750881108 CA10350053 COSM456731 |
672 | G>D | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs373165223 CA10350054 |
675 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374819621 CA10350055 |
680 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10350056 rs751258996 |
680 | L>P | No |
ClinGen ExAC |
|
| TCGA novel | 699 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237852325 CA412409490 |
702 | E>G | No |
ClinGen TOPMed |
|
|
CA412409499 rs1569109827 |
703 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 707 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350060 rs370146006 |
712 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412409561 rs370146006 |
712 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370146006 CA10350061 |
712 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749152929 CA10350062 |
719 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs772329520 CA10350063 |
720 | N>S | No |
ClinGen ExAC gnomAD |
|
| COSM3913342 | 723 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs775736639 CA412409640 CA10350064 |
724 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs200243316 CA326797140 |
724 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 730 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs975930186 CA326797142 |
731 | K>R | No |
ClinGen Ensembl |
|
|
rs201018965 CA326797143 |
734 | Q>K | No |
ClinGen TOPMed |
|
| TCGA novel | 734 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326797145 rs201873447 |
737 | S>I | No |
ClinGen gnomAD |
|
|
rs201873447 CA326797144 |
737 | S>T | No |
ClinGen gnomAD |
|
|
rs762295176 CA10350068 |
741 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1569109868 CA412409765 |
743 | L>I | No |
ClinGen Ensembl |
|
|
CA326797146 COSM1315200 rs200283411 |
750 | R>* | Variant assessed as Somatic; HIGH impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 750 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350069 rs765513485 |
750 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA326797147 rs201119854 |
751 | Y>H | No |
ClinGen TOPMed |
|
|
CA10350070 rs140890736 |
759 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10350071 rs200556781 |
764 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM6117077 | 765 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA326797149 rs866731239 |
765 | T>N | No |
ClinGen Ensembl |
|
|
rs201666988 CA326797150 |
766 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 771 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412410027 rs1356760534 |
774 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM315953 CA326797152 rs753124291 |
776 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA412410064 rs1287434546 |
777 | M>V | No |
ClinGen gnomAD |
|
|
rs375375608 CA326797154 |
779 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 779 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1114930 | 782 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 784 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350076 rs199643469 |
784 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM1465503 | 788 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 792 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 800 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755980513 CA10350077 |
801 | T>K | No |
ClinGen ExAC gnomAD |
|
| COSM1490479 | 801 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1181424483 CA412410454 |
804 | T>A | No |
ClinGen gnomAD |
|
|
CA412410487 COSM4406258 rs1205446189 |
806 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs757292452 CA10350080 |
809 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 813 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4106579 | 816 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350081 rs778928056 |
819 | A>T | No |
ClinGen ExAC gnomAD |
|
| COSM1114934 | 824 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 826 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350083 rs768843769 |
829 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412410682 rs768843769 |
829 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209214952 CA412410694 |
830 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 832 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1315202 | 844 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412410899 rs1327844410 |
845 | L>P | No |
ClinGen gnomAD |
|
|
CA326797158 rs199898815 |
845 | L>V | No |
ClinGen Ensembl |
|
| COSM4905245 | 846 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350086 rs770241880 |
847 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM2155667 | 847 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412410972 rs1367905852 |
851 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 853 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412411024 rs1231646514 |
854 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA412411063 rs1277099443 |
858 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 864 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569109948 CA412411117 |
866 | D>N | No |
ClinGen Ensembl |
|
|
rs774778204 CA10350090 |
868 | W>* | No |
ClinGen ExAC |
|
| COSM1465505 | 868 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 869 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202028806 CA326797160 |
871 | Y>D | No |
ClinGen Ensembl |
|
| COSM1138073 | 872 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs200040130 CA10350091 |
873 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766909429 CA10350092 |
877 | K>R | No |
ClinGen ExAC gnomAD |
|
| COSM1114936 | 882 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412411244 rs1200313821 |
883 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201674409 COSM213106 CA10350095 |
883 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1475287102 CA412411253 |
885 | I>V | No |
ClinGen gnomAD |
|
|
rs1196716563 CA412411261 |
886 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs145797092 CA10350097 |
889 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| COSM3800399 | 892 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3694335 | 893 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350099 rs779050861 |
894 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1011946774 CA326797162 |
895 | I>V | No |
ClinGen Ensembl |
|
|
rs1198069306 CA412411329 |
896 | V>M | No |
ClinGen TOPMed |
|
|
CA412411352 rs1422109099 |
899 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10350102 rs781107625 |
900 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs202022420 CA10350104 |
906 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3557731 CA326797163 rs899161308 |
909 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
CA326797164 rs200355792 |
911 | E>D | No |
ClinGen Ensembl |
|
|
CA10350105 rs777981131 |
913 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA326797165 rs868563056 |
914 | A>T | No |
ClinGen Ensembl |
|
|
rs771285356 CA10350107 |
916 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs903482794 CA326797166 |
919 | P>R | No |
ClinGen TOPMed |
|
|
rs189681811 CA10350108 |
920 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| COSM1114939 | 921 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 921 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436222979 CA412411492 |
921 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 926 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM285757 | 928 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412411552 rs202231595 |
929 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10350109 rs202231595 |
929 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867028085 CA326797167 |
930 | E>K | No |
ClinGen Ensembl |
|
|
CA412411585 rs1331496205 |
933 | W>S | No |
ClinGen TOPMed |
|
| COSM3405953 | 937 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412411691 rs1488072525 |
948 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 949 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3405954 | 954 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412411750 rs1207825564 |
957 | M>V | No |
ClinGen gnomAD |
|
|
CA412411770 rs200330128 |
959 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412411764 rs1269387562 |
959 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 961 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412411788 rs1420769768 |
962 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 963 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478503554 CA412411803 |
964 | T>A | No |
ClinGen gnomAD |
|
|
CA412411805 rs1190350134 |
964 | T>N | No |
ClinGen TOPMed |
|
|
rs760167499 COSM4106580 CA412411815 |
965 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| TCGA novel | 968 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326797168 rs199552838 |
969 | I>T | No |
ClinGen gnomAD |
|
|
rs1234489564 CA412411846 |
970 | A>T | No |
ClinGen TOPMed |
|
|
CA412411883 rs1392092802 |
975 | H>Y | No |
ClinGen gnomAD |
|
|
rs753528685 CA10350114 |
979 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761767111 CA10350115 |
983 | V>L | No |
ClinGen ExAC gnomAD |
|
| COSM1114940 | 986 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350116 rs765092400 |
988 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750434070 CA10350117 |
991 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412412013 rs758288461 |
993 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA10350118 rs758288461 |
993 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 996 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326797169 rs868437180 |
997 | K>E | No |
ClinGen TOPMed |
|
|
CA326797170 rs752720603 |
999 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350120 rs752720603 |
999 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778023162 CA10350122 |
1001 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756157087 CA10350121 |
1001 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1004 | R>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs181600414 CA326797172 |
1004 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 1007 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749485283 CA10350124 |
1008 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1011 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3992350 | 1018 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1114941 rs138079334 CA10350127 |
1019 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| COSM4902426 | 1019 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350129 rs776007832 |
1021 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10350131 rs768207383 |
1023 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746558365 CA10350130 |
1023 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400701241 CA412412258 |
1029 | L>P | No |
ClinGen gnomAD |
|
|
CA10350134 rs147244662 |
1032 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA326797175 rs184706894 |
1032 | A>V | No |
ClinGen 1000Genomes |
|
|
CA412412295 rs1340885182 |
1035 | T>I | No |
ClinGen gnomAD |
|
| COSM6184889 | 1035 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412412315 rs1239156024 |
1038 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA326797176 rs200611558 |
1043 | Q>K | No |
ClinGen Ensembl |
|
|
CA10350136 rs376314123 |
1048 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
2 associated diseases with Q9NYK1
[MIM: 301051]: Immunodeficiency 74, COVID19-related, X-linked (IMD74)
An X-linked recessive immunologic disorder characterized by impaired type I and type II interferon responses due to defective TLR7 signaling. Individuals with TLR7 deficiency develop severe respiratory insufficiency in response to infection with SARS-CoV-2 coronavirus. Death from respiratory failure may occur. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 301080]: Systemic lupus erythematosus 17 (SLEB17)
A form of systemic lupus erythematosus, a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. SLEB17 is an X-linked dominant form characterized by onset of systemic autoinflammatory symptoms in the first decades of life. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked recessive immunologic disorder characterized by impaired type I and type II interferon responses due to defective TLR7 signaling. Individuals with TLR7 deficiency develop severe respiratory insufficiency in response to infection with SARS-CoV-2 coronavirus. Death from respiratory failure may occur. . Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of systemic lupus erythematosus, a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. SLEB17 is an X-linked dominant form characterized by onset of systemic autoinflammatory symptoms in the first decades of life. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9NYK1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NYK1 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR47410 | TOLL-LIKE RECEPTOR 7-RELATED |
| PANTHER Subfamily | PTHR47410:SF2 | TOLL-LIKE RECEPTOR 7 |
| PANTHER Protein Class | transmembrane signal receptor | |
| PANTHER Pathway Category |
Toll receptor signaling pathway TLR2,4,7 Toll receptor signaling pathway TLR |
|
11 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| early phagosome | A membrane-bounded intracellular vesicle as initially formed upon the ingestion of particulate material by phagocytosis. |
| endolysosome membrane | The lipid bilayer surrounding an endolysosome. An endolysosome is a transient hybrid organelle formed by fusion of a late endosome with a lysosome. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| double-stranded RNA binding | Binding to double-stranded RNA. |
| pattern recognition receptor activity | Combining with a pathogen-associated molecular pattern (PAMP), a structure conserved among microbial species to initiate an innate immune response. |
| single-stranded RNA binding | Binding to single-stranded RNA. |
| siRNA binding | Binding to a small interfering RNA, a 21-23 nucleotide RNA that is processed from double stranded RNA (dsRNA) by an RNAse enzyme. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to mechanical stimulus | 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 mechanical stimulus. |
| cellular response to virus | 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 virus. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| I-kappaB kinase/NF-kappaB signaling | The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| I-kappaB phosphorylation | The process of introducing a phosphate group into an inhibitor of kappa B (I-kappaB) protein. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing bound NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier |
| positive regulation of chemokine production | Any process that activates or increases the frequency, rate, or extent of chemokine production. |
| positive regulation of inflammatory response | Any process that activates or increases the frequency, rate or extent of the inflammatory response. |
| positive regulation of interferon-alpha production | Any process that activates or increases the frequency, rate, or extent of interferon-alpha production. |
| positive regulation of interferon-beta production | Any process that activates or increases the frequency, rate, or extent of interferon-beta production. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of interleukin-8 production | Any process that activates or increases the frequency, rate, or extent of interleukin-8 production. |
| positive regulation of macrophage cytokine production | Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. |
| positive regulation of NIK/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of type II interferon production | Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. |
| regulation of protein phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. |
| response to cGMP | 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 cGMP (cyclic GMP, guanosine 3',5'-cyclophosphate) stimulus. |
| toll-like receptor 7 signaling pathway | The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 7. |
| toll-like receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a toll-like receptor of a target cell. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5I2M7 | TLR9 | Toll-like receptor 9 | Felis catus (Cat) (Felis silvestris catus) | SS |
| Q5I2M8 | TLR9 | Toll-like receptor 9 | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
| P08953 | Tl | Protein toll | Drosophila melanogaster (Fruit fly) | PR |
| Q2EEY0 | TLR9 | Toll-like receptor 9 | Equus caballus (Horse) | SS |
| Q9NR96 | TLR9 | Toll-like receptor 9 | Homo sapiens (Human) | EV |
| Q9NR97 | TLR8 | Toll-like receptor 8 | Homo sapiens (Human) | EV |
| P58681 | Tlr7 | Toll-like receptor 7 | Mus musculus (Mouse) | SS |
| Q9EQU3 | Tlr9 | Toll-like receptor 9 | Mus musculus (Mouse) | SS |
| Q5I2M3 | TLR9 | Toll-like receptor 9 | Sus scrofa (Pig) | SS |
| A5H2Z9 | Tlr7 | Toll-like receptor 7 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVFPMWTLKR | QILILFNIIL | ISKLLGARWF | PKTLPCDVTL | DVPKNHVIVD | CTDKHLTEIP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGIPTNTTNL | TLTINHIPDI | SPASFHRLDH | LVEIDFRCNC | VPIPLGSKNN | MCIKRLQIKP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RSFSGLTYLK | SLYLDGNQLL | EIPQGLPPSL | QLLSLEANNI | FSIRKENLTE | LANIEILYLG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QNCYYRNPCY | VSYSIEKDAF | LNLTKLKVLS | LKDNNVTAVP | TVLPSTLTEL | YLYNNMIAKI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QEDDFNNLNQ | LQILDLSGNC | PRCYNAPFPC | APCKNNSPLQ | IPVNAFDALT | ELKVLRLHSN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLQHVPPRWF | KNINKLQELD | LSQNFLAKEI | GDAKFLHFLP | SLIQLDLSFN | FELQVYRASM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NLSQAFSSLK | SLKILRIRGY | VFKELKSFNL | SPLHNLQNLE | VLDLGTNFIK | IANLSMFKQF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KRLKVIDLSV | NKISPSGDSS | EVGFCSNART | SVESYEPQVL | EQLHYFRYDK | YARSCRFKNK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EASFMSVNES | CYKYGQTLDL | SKNSIFFVKS | SDFQHLSFLK | CLNLSGNLIS | QTLNGSEFQP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LAELRYLDFS | NNRLDLLHST | AFEELHKLEV | LDISSNSHYF | QSEGITHMLN | FTKNLKVLQK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LMMNDNDISS | STSRTMESES | LRTLEFRGNH | LDVLWREGDN | RYLQLFKNLL | KLEELDISKN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SLSFLPSGVF | DGMPPNLKNL | SLAKNGLKSF | SWKKLQCLKN | LETLDLSHNQ | LTTVPERLSN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| CSRSLKNLIL | KNNQIRSLTK | YFLQDAFQLR | YLDLSSNKIQ | MIQKTSFPEN | VLNNLKMLLL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HHNRFLCTCD | AVWFVWWVNH | TEVTIPYLAT | DVTCVGPGAH | KGQSVISLDL | YTCELDLTNL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ILFSLSISVS | LFLMVMMTAS | HLYFWDVWYI | YHFCKAKIKG | YQRLISPDCC | YDAFIVYDTK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DPAVTEWVLA | ELVAKLEDPR | EKHFNLCLEE | RDWLPGQPVL | ENLSQSIQLS | KKTVFVMTDK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| YAKTENFKIA | FYLSHQRLMD | EKVDVIILIF | LEKPFQKSKF | LQLRKRLCGS | SVLEWPTNPQ |
| 1030 | 1040 | ||||
| AHPYFWQCLK | NALATDNHVA | YSQVFKETV |