Q9NR97
EV
Gene name |
TLR8 (UNQ249/PRO286) |
Protein name |
Toll-like receptor 8 |
Names |
CD antigen CD288 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51311 |
EC number |
|
Protein Class |
TOLL-LIKE RECEPTOR 7-RELATED (PTHR47410) |
Descriptions
TLR8 (Toll-like receptor 8) is an endosomal receptor that plays a key role in innate and adaptive immunity by recognizing pathogen-associated molecular patterns such as single-stranded nucleic acids from viruses and bacteria. TLR8 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. TLR8 is monomeric in the absence of ligands and transforms into an activated dimer form on ligand binding, which allows for dimerization of the intracellular TIR domain and subsequent signaling. TLR8 possess a long inserted loop region (Z-loop), consisting of about 30 amino acid residues, between LRR14 and LRR15, and the processing by proteolytic cleavage at the Z-loop produces functional TLR8 capable of TLR8 dimerization, ligand binding, and signaling in endolysosomes. The uncleaved Z-loop prevents formation of the TLR8 dimer, which is essential for its activation, by preventing the dimerization partner by steric hindrance. In autoinhibited state, Z-loop is sandwiched by LRR8, LRR11-LRR13, and LRR18-LRR19.
Autoinhibitory domains (AIDs)
Target domain |
25-833 (LRR domains) |
Relief mechanism |
Cleavage |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
37 structures for Q9NR97
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3W3G | X-ray | 230 A | A/B | 27-827 | PDB |
| 3W3J | X-ray | 200 A | A/B | 27-827 | PDB |
| 3W3K | X-ray | 230 A | A/B | 27-827 | PDB |
| 3W3L | X-ray | 233 A | A/B/C/D | 27-827 | PDB |
| 3W3M | X-ray | 270 A | A | 27-827 | PDB |
| 3W3N | X-ray | 210 A | A/B | 27-827 | PDB |
| 3WN4 | X-ray | 181 A | A | 27-827 | PDB |
| 4QBZ | X-ray | 200 A | A/B | 27-827 | PDB |
| 4QC0 | X-ray | 210 A | A/B | 27-827 | PDB |
| 4R07 | X-ray | 200 A | A/B/C/D | 27-827 | PDB |
| 4R08 | X-ray | 240 A | A/B/C/D | 27-827 | PDB |
| 4R09 | X-ray | 262 A | A/B/C/D | 27-827 | PDB |
| 4R0A | X-ray | 190 A | A | 27-827 | PDB |
| 4R6A | X-ray | 210 A | A/B | 27-827 | PDB |
| 5AWA | X-ray | 220 A | A | 27-827 | PDB |
| 5AWB | X-ray | 210 A | A | 27-827 | PDB |
| 5AWC | X-ray | 250 A | A/B/C/D | 27-827 | PDB |
| 5AWD | X-ray | 205 A | A | 27-827 | PDB |
| 5AZ5 | X-ray | 240 A | A/B/C/D | 27-827 | PDB |
| 5HDH | X-ray | 260 A | A | 27-827 | PDB |
| 5WYX | X-ray | 240 A | A/B | 27-827 | PDB |
| 5WYZ | X-ray | 230 A | A/B | 27-827 | PDB |
| 5Z14 | X-ray | 280 A | A/B | 27-827 | PDB |
| 5Z15 | X-ray | 290 A | A/B | 27-827 | PDB |
| 6KYA | X-ray | 289 A | A/B | 27-827 | PDB |
| 6TY5 | X-ray | 279 A | A/B | 27-827 | PDB |
| 6V9U | X-ray | 265 A | A/B | 27-827 | PDB |
| 6WML | X-ray | 250 A | A/B/C/D | 27-827 | PDB |
| 6ZJZ | X-ray | 249 A | A/B | 27-827 | PDB |
| 7CRF | X-ray | 289 A | A/B | 27-827 | PDB |
| 7R52 | X-ray | 294 A | A/B | 27-827 | PDB |
| 7R53 | X-ray | 312 A | A/B | 27-827 | PDB |
| 7R54 | X-ray | 284 A | A/B | 27-827 | PDB |
| 7RC9 | X-ray | 276 A | A/B | 27-827 | PDB |
| 7YTX | X-ray | 290 A | A/B | 27-827 | PDB |
| 8PFI | X-ray | 279 A | A/B | 27-827 | PDB |
| AF-Q9NR97-F1 | Predicted | AlphaFoldDB |
506 variants for Q9NR97
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs151096932 CA10350169 RCV000915949 RCV002542136 |
18 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_087088 COSM1115095 |
432 | P>L | Variant assessed as Somatic; MODERATE impact. IMD98; gain-of-function variant resulting in increased NF-kappa-B activation measured in a reporter assay [NCI-TCGA, UniProt] | Yes |
NCI-TCGA Cosmic UniProt |
|
TCGA novel VAR_087089 |
494 | F>L | Variant assessed as Somatic; MODERATE impact. IMD98; gain-of-function variant resulting in increased NF-kappa-B activation measured in a reporter assay [NCI-TCGA, UniProt] | Yes |
NCI-TCGA UniProt |
|
VAR_087090 CA412416478 rs1385657144 |
572 | G>D | IMD98; gain-of-function variant resulting in increased NF-kappa-B activation measured in a reporter assay [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
| VAR_087091 | 572 | G>V | IMD98; increased NF-kappa-B activation measured in a reporter assay; results in increased TLR8 protein degradation [UniProt] | Yes | UniProt |
| COSM1465511 | 3 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412412433 rs1397585074 |
4 | M>I | No |
ClinGen gnomAD |
|
|
CA10350163 rs780074989 |
4 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA326799795 rs910861464 |
7 | Q>H | No |
ClinGen TOPMed |
|
|
VAR_024667 rs5744077 CA10350165 |
10 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10350167 rs570794757 |
13 | C>G | No |
ClinGen ExAC |
|
|
CA10350168 rs747672778 |
13 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1324053224 CA412412527 |
19 | S>A | No |
ClinGen gnomAD |
|
|
CA10350170 rs777353095 |
20 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs866448188 CA326799796 COSM1714639 |
20 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs866448188 CA412412534 |
20 | G>V | No |
ClinGen gnomAD |
|
|
rs139980479 CA412412557 |
24 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412412565 rs1602455316 |
25 | C>R | No |
ClinGen Ensembl |
|
|
CA10350172 rs143939946 |
25 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10350174 rs759189396 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10350176 COSM169089 rs144647258 |
27 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 28 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412412585 rs1435069623 |
28 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA326799798 rs770057078 |
29 | N>I | No |
ClinGen TOPMed |
|
|
CA10350177 rs761947630 |
31 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10350179 rs777910070 |
37 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412412661 rs1417335127 |
38 | E>D | No |
ClinGen gnomAD |
|
| COSM456747 | 38 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350180 rs371285063 |
41 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326691885 CA412412698 |
43 | D>G | No |
ClinGen gnomAD |
|
|
CA326799800 rs906746657 |
44 | S>L | No |
ClinGen TOPMed |
|
|
CA326799799 rs1042533074 |
44 | S>P | No |
ClinGen TOPMed |
|
|
CA10350181 rs766470317 |
45 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414173481 CA412412720 |
47 | A>S | No |
ClinGen gnomAD |
|
|
rs191299747 CA10350183 |
48 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA326799802 rs372006583 |
51 | N>S | No |
ClinGen Ensembl |
|
| COSM5472824 | 52 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs781778459 COSM6184860 COSM1555992 CA326799803 |
52 | R>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA10350184 rs781778459 |
52 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286007013 CA412412759 COSM32438 |
53 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA412412760 rs1352055700 |
53 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| COSM3557787 | 56 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350186 rs57166818 |
60 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs895108222 CA326799804 COSM673983 |
62 | G>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA10350188 rs375512332 |
66 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA326799805 rs375512332 |
66 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10350189 rs770624249 |
69 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350190 rs778375164 |
72 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3964699 CA10350192 rs771849849 |
77 | H>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs745722261 COSM4927560 CA10350191 |
77 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs1159957082 CA412412919 |
78 | I>V | No |
ClinGen gnomAD |
|
|
rs201537073 CA10350193 |
79 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA326799806 rs267606341 |
81 | E>K | No |
ClinGen Ensembl |
|
|
rs1463697894 CA412412963 |
84 | Q>R | No |
ClinGen TOPMed |
|
|
CA412412976 rs1379157437 |
86 | L>P | No |
ClinGen TOPMed |
|
| COSM1138076 | 87 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM4917912 | 90 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs773370542 CA10350196 |
91 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA412413039 rs1308929978 |
95 | N>I | No |
ClinGen gnomAD |
|
|
CA10350197 rs146700498 |
96 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412413069 rs994032756 |
99 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs200981848 CA10350198 COSM1229412 |
100 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1035870242 CA326799809 |
100 | V>I | No |
ClinGen Ensembl |
|
|
CA10350200 rs373184358 |
104 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM3363812 | 105 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA326799810 COSM1465515 rs915691659 |
105 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA412413125 COSM4106631 rs1281012171 |
108 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| COSM4106632 | 109 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 112 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237290635 CA412413155 |
112 | N>T | No |
ClinGen gnomAD |
|
|
CA412413171 rs764443515 |
114 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs750358899 CA412413177 |
115 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750358899 CA10350205 |
115 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1115068 CA412413203 rs1477444771 |
119 | G>R | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 121 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1115070 | 122 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412413228 rs1299881696 |
123 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 126 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469949551 CA412413256 |
127 | L>I | No |
ClinGen gnomAD |
|
|
rs745489278 CA10350208 |
128 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1449459737 CA412413268 |
129 | E>K | No |
ClinGen gnomAD |
|
| COSM4106633 | 131 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM277704 | 132 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 135 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330213469 CA412413324 |
135 | N>T | No |
ClinGen gnomAD |
|
|
rs1231166125 CA412413350 |
138 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM610983 rs374687057 CA10350209 COSM6117048 |
138 | P>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs1276649999 CA412413355 |
139 | Q>R | No |
ClinGen gnomAD |
|
|
CA412413367 rs1218305614 |
141 | P>S | No |
ClinGen gnomAD |
|
| COSM3843554 | 142 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412413380 rs1256364790 |
143 | G>S | No |
ClinGen gnomAD |
|
|
CA412413390 rs1330009438 |
144 | L>F | No |
ClinGen TOPMed |
|
|
CA412413423 rs1602455767 |
149 | T>I | No |
ClinGen Ensembl |
|
|
rs746766277 CA10350211 |
150 | E>D | No |
ClinGen ExAC gnomAD |
|
| COSM4840817 | 153 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs376689229 CA10350213 |
158 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA326799814 rs762362421 |
160 | N>S | No |
ClinGen Ensembl |
|
|
CA10350215 rs183801068 |
164 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 169 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350218 rs767811815 |
170 | I>T | No |
ClinGen ExAC gnomAD |
|
| COSM1115074 | 170 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1714640 | 175 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs752683730 CA10350221 |
176 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1467523384 CA412413606 |
176 | Y>H | No |
ClinGen gnomAD |
|
|
CA10350222 rs754297567 |
182 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 186 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs5744079 CA412413692 |
187 | C>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA326799815 rs776057581 |
187 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1276608774 CA412413700 |
188 | E>D | No |
ClinGen gnomAD |
|
|
rs1440170102 CA412413697 |
188 | E>G | No |
ClinGen TOPMed |
|
|
rs376034872 CA10350225 COSM1229409 |
188 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA326799816 rs934606168 |
192 | I>M | No |
ClinGen Ensembl |
|
| COSM4941341 | 195 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA326799817 COSM1331260 rs976964102 |
199 | T>M | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 200 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754712471 CA10350229 |
202 | N>D | No |
ClinGen ExAC gnomAD |
|
| COSM1115077 | 202 | N>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs932494695 CA326799818 |
202 | N>I | No |
ClinGen Ensembl |
|
|
rs1490386728 CA412413828 |
205 | L>M | No |
ClinGen gnomAD |
|
|
CA326799819 rs868494026 |
207 | S>L | No |
ClinGen Ensembl |
|
|
rs1201227810 CA412413917 |
211 | N>S | No |
ClinGen TOPMed |
|
|
rs1483141616 CA412413936 |
212 | S>F | No |
ClinGen TOPMed |
|
| COSM1115079 | 212 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs5744080 CA412413978 |
215 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM2725845 | 216 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3843555 | 217 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350233 rs771088322 |
218 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA412414012 rs1569117378 |
218 | P>S | No |
ClinGen Ensembl |
|
|
CA10350234 rs774608026 |
219 | K>R | No |
ClinGen ExAC gnomAD |
|
| COSM6184859 | 220 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 221 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1115081 | 224 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350235 rs757616604 |
225 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs889236034 CA412414080 |
225 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs889236034 CA326799820 |
225 | R>L | No |
ClinGen TOPMed gnomAD |
|
| COSM6117047 | 231 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3557791 | 231 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350236 rs772440962 |
233 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA412414162 rs1602456029 |
237 | I>V | No |
ClinGen Ensembl |
|
|
rs1395036259 CA412414171 |
238 | S>N | No |
ClinGen TOPMed |
|
|
CA10350239 rs768871999 |
238 | S>R | No |
ClinGen ExAC gnomAD |
|
| COSM3557792 | 242 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350241 rs762250935 |
246 | I>L | No |
ClinGen ExAC gnomAD |
|
| COSM5196013 | 248 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM2725849 | 248 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1625503 CA412414254 rs1602456067 |
249 | T>I | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA412414274 rs1293871448 |
252 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 256 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412414356 rs1163463941 |
264 | P>A | No |
ClinGen gnomAD |
|
|
CA412414383 COSM1465519 rs1283201785 |
268 | V>M | ovary Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 275 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 278 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762391594 CA10350244 |
279 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762391594 CA412414457 |
279 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1229411 | 280 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA326799823 rs766077025 |
280 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10350245 rs766077025 |
280 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA412414464 rs1255043567 COSM1569704 |
280 | R>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA10350246 rs751205662 |
284 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1386418782 CA412414501 |
285 | N>T | No |
ClinGen gnomAD |
|
|
CA412414519 rs1439585209 |
288 | Q>E | No |
ClinGen gnomAD |
|
|
COSM2725853 CA326799825 rs866353276 |
290 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
rs754838022 CA10350247 |
291 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA10350249 rs752485646 |
300 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3913352 | 302 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs756013561 CA10350250 |
303 | N>S | No |
ClinGen ExAC |
|
|
CA326799827 rs1013072366 |
306 | W>S | No |
ClinGen Ensembl |
|
|
rs1055749608 CA326799828 |
310 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350251 rs777796941 |
312 | H>Q | No |
ClinGen ExAC gnomAD |
|
| COSM487950 | 323 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs746006131 CA10350252 |
324 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239397601 CA412414787 |
327 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 327 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1115089 | 328 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412414796 rs1318271768 |
329 | S>T | No |
ClinGen gnomAD |
|
| COSM755376 | 330 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350253 rs772276645 |
331 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1255052346 COSM1569703 CA412414833 |
334 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs780464965 CA10350254 |
335 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022668356 CA326799830 |
338 | R>C | No |
ClinGen gnomAD |
|
|
CA412414877 rs1457584727 |
341 | I>T | No |
ClinGen gnomAD |
|
| COSM1115091 | 342 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412414891 rs1488818600 |
343 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 345 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175381548 CA412414927 |
348 | Y>C | No |
ClinGen gnomAD |
|
|
rs776890498 CA10350258 |
352 | S>R | No |
ClinGen ExAC gnomAD |
|
| COSM273726 | 354 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 355 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs926280382 CA326799832 |
355 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 359 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1315209 | 363 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 363 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs941645752 CA326799833 |
367 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 369 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350260 rs770298416 |
370 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 370 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773695749 CA10350261 |
377 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 377 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412415171 rs1375352391 |
384 | E>K | No |
ClinGen gnomAD |
|
|
rs978803127 CA326799836 |
385 | D>N | No |
ClinGen Ensembl |
|
|
CA412415187 rs1353244897 |
386 | D>H | No |
ClinGen TOPMed |
|
|
CA10350263 rs765839530 |
389 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA412415226 rs1031350684 CA326799837 |
391 | M>I | No |
ClinGen TOPMed |
|
|
rs751271824 CA412415223 |
391 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350264 rs751271824 |
391 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201316478 CA10350266 |
395 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs759129997 CA10350265 |
395 | N>T | No |
ClinGen ExAC gnomAD |
|
| COSM6184858 | 396 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1465520 | 397 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412415271 rs1317769880 |
398 | T>I | No |
ClinGen gnomAD |
|
|
rs1406978940 CA412415298 |
402 | G>A | No |
ClinGen TOPMed |
|
|
rs755929264 CA10350268 |
408 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755929264 CA326799838 |
408 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481219220 CA412415351 |
410 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1196074830 CA412415395 |
415 | Q>H | No |
ClinGen TOPMed |
|
|
rs758600163 CA10350271 |
415 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412415408 rs1569117586 |
417 | F>S | No |
ClinGen Ensembl |
|
|
rs747072909 CA10350273 |
421 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1177494779 CA412415431 |
421 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10350275 rs781416027 |
423 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA412415456 rs1292024904 |
424 | Y>C | No |
ClinGen gnomAD |
|
|
CA10350276 rs748518562 |
425 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10350277 rs770138768 |
428 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1115093 | 432 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1115097 | 436 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA326799839 rs201737997 |
437 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201737997 CA10350280 |
437 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10350282 rs377754079 |
438 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA326799840 rs5744081 |
438 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275507556 CA412415569 |
441 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA412415582 rs1337623910 |
443 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775208023 CA10350284 |
444 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs760591173 CA10350285 |
446 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 447 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412415621 rs780631934 |
449 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762550587 CA326799841 |
449 | R>H | No |
ClinGen gnomAD |
|
|
rs762550587 CA412415623 |
449 | R>L | No |
ClinGen gnomAD |
|
|
COSM1555989 COSM6184857 CA10350286 rs780631934 |
449 | R>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10350287 rs753639022 |
452 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA326799842 rs753639022 |
452 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412415640 rs1218810960 |
452 | R>W | No |
ClinGen TOPMed |
|
| COSM6117046 | 454 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1018571042 CA326799843 |
454 | R>L | No |
ClinGen TOPMed |
|
|
CA10350290 rs751601956 |
455 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA326799844 rs765860609 |
455 | R>H | No |
ClinGen TOPMed |
|
|
rs1386321696 CA412415668 |
457 | T>K | No |
ClinGen TOPMed |
|
|
CA412415721 rs1164083851 |
464 | H>Q | No |
ClinGen gnomAD |
|
|
CA10350293 rs781335361 |
464 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA412415728 rs1363569571 |
465 | S>L | No |
ClinGen gnomAD |
|
| COSM1315210 | 469 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM5877080 rs1303181160 CA412415777 |
472 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs910600091 COSM4106638 CA326799846 |
472 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs1271549509 CA412415794 |
475 | I>V | No |
ClinGen gnomAD |
|
|
CA412415825 rs1423357355 |
479 | C>Y | No |
ClinGen TOPMed |
|
|
CA10350296 rs778131239 |
481 | A>S | No |
ClinGen ExAC gnomAD |
|
| COSM1465522 | 483 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3557795 | 485 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1200632162 CA412415948 |
496 | I>T | No |
ClinGen Ensembl |
|
|
rs1485406843 CA412415959 COSM3557796 |
498 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
CA412415998 rs1187107263 |
503 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 504 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350298 rs771444889 |
507 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147465988 CA10350301 |
508 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412416033 rs1198751611 |
508 | A>V | No |
ClinGen TOPMed |
|
|
rs897843160 CA326799847 |
514 | A>E | No |
ClinGen Ensembl |
|
| COSM6184856 | 519 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1239428072 CA412416108 |
519 | Q>L | No |
ClinGen TOPMed |
|
|
CA412416115 rs1487329764 |
520 | V>E | No |
ClinGen gnomAD |
|
|
rs1254066138 CA412416119 |
521 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198889160 CA412416163 |
527 | S>L | No |
ClinGen TOPMed |
|
|
rs1475623493 CA412416235 |
537 | L>F | No |
ClinGen gnomAD |
|
|
CA412416261 rs1181014615 |
541 | R>K | No |
ClinGen gnomAD |
|
|
CA412416299 rs1383333705 |
546 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 552 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750369510 CA10350308 |
555 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412416357 rs750369510 |
555 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412416417 rs1447776553 |
563 | Y>* | No |
ClinGen gnomAD |
|
| COSM1115099 | 565 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 566 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267606343 CA326799849 |
568 | F>S | No |
ClinGen Ensembl |
|
|
rs755052555 CA10350309 |
570 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10350311 rs752721263 COSM3843558 |
573 | V>I | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 576 | H>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447808668 CA412416522 |
579 | F>I | No |
ClinGen TOPMed |
|
| COSM5618416 | 591 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412416643 rs1285239084 |
595 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1433615629 CA412416703 |
603 | Y>* | No |
ClinGen gnomAD |
|
| COSM1331259 | 604 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 605 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6184855 | 606 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM456750 | 606 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412416741 rs1382052554 |
608 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA412416757 rs1397130453 |
611 | V>A | No |
ClinGen gnomAD |
|
| COSM1115101 | 612 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs749714140 CA10350314 |
612 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1381639141 CA412416781 |
615 | F>V | No |
ClinGen TOPMed |
|
|
rs1178776493 CA412416811 COSM3557797 |
619 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
|
CA326799851 rs1031864000 |
619 | R>H | No |
ClinGen TOPMed |
|
| TCGA novel | 620 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746367315 CA10350317 |
628 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1295237839 CA412416902 |
631 | Y>C | No |
ClinGen gnomAD |
|
|
rs779645774 CA10350319 |
637 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA412416953 rs1363498887 |
639 | K>E | No |
ClinGen gnomAD |
|
| COSM264064 | 640 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1334248954 CA412416981 |
643 | R>C | No |
ClinGen gnomAD |
|
|
CA10350321 rs768437851 |
643 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184806389 CA412416990 |
645 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| COSM3557798 | 645 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs184806389 CA10350322 |
645 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1277601856 CA412417029 |
650 | R>S | No |
ClinGen TOPMed |
|
|
CA10350325 rs752498502 |
653 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762965940 CA10350326 |
655 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412417070 rs1344363068 |
657 | E>K | No |
ClinGen gnomAD |
|
|
CA10350329 rs148772263 |
664 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148772263 COSM5948837 CA10350328 |
664 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA412417132 rs1325503059 |
666 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 667 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412417165 rs754032613 |
671 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA10350331 rs754032613 |
671 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10350332 rs757615848 |
673 | D>Y | No |
ClinGen ExAC |
|
| COSM4925415 | 675 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4106639 CA412417215 rs1232992427 |
677 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
| TCGA novel | 679 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4106640 | 682 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350334 rs750715531 |
682 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 689 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412417301 COSM1115103 rs1450419927 |
689 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
CA412417310 rs1260728391 |
691 | E>K | No |
ClinGen gnomAD |
|
|
CA412417311 rs1260728391 |
691 | E>Q | No |
ClinGen gnomAD |
|
|
CA412417337 rs1430894405 |
694 | D>E | No |
ClinGen gnomAD |
|
|
COSM3720062 CA10350335 rs375260093 |
696 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10350336 rs368213008 |
696 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 700 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3843559 | 706 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs781031262 CA10350339 |
707 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA412417426 rs1602457108 |
708 | S>P | No |
ClinGen Ensembl |
|
|
rs918567472 CA326799854 |
709 | D>G | No |
ClinGen TOPMed gnomAD |
|
| COSM6117045 | 709 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412417452 rs762989856 |
712 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10350341 rs762989856 |
712 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA326799855 rs973500677 |
713 | S>F | No |
ClinGen Ensembl |
|
|
rs5744082 CA10350344 |
715 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000970384 VAR_052363 rs5744082 CA10350343 |
715 | R>Q | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773087679 CA10350342 |
715 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 716 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350345 rs774269874 |
716 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA10350346 rs760786710 |
721 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1196581356 CA412417500 |
721 | H>R | No |
ClinGen gnomAD |
|
|
CA412417516 rs1270630225 |
723 | R>M | No |
ClinGen gnomAD |
|
|
rs1173264527 CA412417529 |
725 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA412417527 rs1480538295 |
725 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 729 | S>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350349 rs190078518 |
730 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 732 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412417574 rs1236689789 |
732 | L>P | No |
ClinGen TOPMed |
|
| COSM1115105 | 733 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM6184854 | 736 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350351 rs781506126 |
737 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412417605 rs781506126 |
737 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412417608 rs1422836324 |
737 | S>I | No |
ClinGen gnomAD |
|
|
CA412417612 rs1602457211 |
738 | L>V | No |
ClinGen Ensembl |
|
|
rs778001894 CA326799856 |
743 | L>F | No |
ClinGen Ensembl |
|
|
CA10350352 rs758678705 |
744 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1293670888 CA412417673 |
747 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 750 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 750 | T>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs3747414 CA412417703 |
751 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 755 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749873996 CA10350358 |
755 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10350359 rs777230184 |
756 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1282163184 CA412417746 |
758 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 759 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899819812 CA412417768 |
761 | T>I | No |
ClinGen TOPMed |
|
|
rs899819812 CA326799857 |
761 | T>N | No |
ClinGen TOPMed |
|
|
rs374099429 CA326799858 |
762 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs374099429 CA326799859 |
762 | T>N | No |
ClinGen ESP gnomAD |
|
|
rs1430668774 CA412417779 |
763 | K>N | No |
ClinGen TOPMed gnomAD |
|
| COSM755371 | 765 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1115107 | 766 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350361 rs768265810 |
766 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1385181959 CA412417826 |
770 | H>L | No |
ClinGen gnomAD |
|
| COSM755370 | 770 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs774325059 CA10350362 |
771 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385989326 CA412417876 |
777 | T>N | No |
ClinGen gnomAD |
|
|
CA412417884 rs1419157060 |
778 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 779 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10350364 rs371431389 |
780 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747668620 CA10350365 |
782 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761742368 COSM2725877 CA10350366 |
784 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA10350367 rs151151012 |
785 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM4106642 | 786 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1359619385 CA412417933 |
786 | W>R | No |
ClinGen gnomAD |
|
| COSM3913353 | 787 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412417976 rs1237623438 |
791 | L>Q | No |
ClinGen gnomAD |
|
| COSM3557800 | 796 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM487951 | 796 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA326799861 rs369919085 |
799 | V>L | No |
ClinGen ESP TOPMed |
|
|
rs1192862955 CA412418033 |
800 | D>N | No |
ClinGen TOPMed |
|
|
rs1569118133 CA412418036 |
800 | D>V | No |
ClinGen Ensembl |
|
| COSM1115109 | 802 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs866161944 CA326799862 COSM377331 |
804 | A>V | lung Variant assessed as Somatic; MODERATE impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
CA412418079 rs1248372008 |
807 | G>R | No |
ClinGen TOPMed |
|
|
rs144975896 CA10350371 |
811 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149915624 CA326799863 |
811 | G>R | No |
ClinGen ESP |
|
|
CA412418115 rs1210434450 |
812 | K>T | No |
ClinGen gnomAD |
|
|
rs1242961778 CA412418139 |
815 | V>A | No |
ClinGen gnomAD |
|
|
rs891575630 CA326799864 |
817 | L>Q | No |
ClinGen TOPMed |
|
|
rs986450366 CA326799865 |
825 | D>Y | No |
ClinGen Ensembl |
|
|
CA10350373 rs755569200 |
827 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA326799866 rs997809680 |
833 | F>S | No |
ClinGen Ensembl |
|
|
rs372094896 CA10350375 |
834 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1156956394 CA412418275 |
836 | F>C | No |
ClinGen gnomAD |
|
|
rs771586732 CA412418290 |
838 | I>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA326799867 rs771586732 |
838 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1231629122 CA412418293 |
839 | T>A | No |
ClinGen TOPMed |
|
|
rs1175951823 CA412418305 |
841 | M>V | No |
ClinGen gnomAD |
|
|
CA10350377 rs777524384 |
842 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA412418322 rs1320480261 |
843 | M>T | No |
ClinGen TOPMed |
|
|
rs1338628362 CA412418339 |
845 | A>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 846 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326799868 rs149091458 |
848 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs756858438 CA10350379 |
848 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA326799869 rs772942912 |
850 | H>N | No |
ClinGen 1000Genomes |
|
| COSM4930681 | 855 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1436639248 CA412418442 |
860 | Y>N | No |
ClinGen TOPMed |
|
|
rs1239380630 CA412418473 |
864 | L>S | No |
ClinGen gnomAD |
|
|
CA412418491 rs1262103904 |
867 | V>I | No |
ClinGen gnomAD |
|
| COSM3557801 | 869 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs777116141 CA326799870 |
870 | Y>D | No |
ClinGen Ensembl |
|
|
rs745595672 CA10350382 |
870 | Y>S | No |
ClinGen ExAC gnomAD |
|
| COSM3557802 | 871 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1714643 rs1020168815 CA326799872 |
873 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs376513385 CA326799873 |
873 | L>P | No |
ClinGen ESP |
|
|
rs369721739 CA326799874 |
876 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
| COSM277705 | 879 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412418607 rs1175960972 |
884 | I>T | No |
ClinGen gnomAD |
|
| COSM3557803 | 885 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs775278409 CA10350384 |
891 | A>T | No |
ClinGen ExAC |
|
|
rs1002494994 CA326799876 |
892 | S>P | No |
ClinGen TOPMed |
|
| COSM3557804 | 892 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1569118289 CA412418671 |
894 | T>A | No |
ClinGen Ensembl |
|
|
CA412418676 rs1199055160 |
895 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10350386 rs769729480 |
900 | E>D | No |
ClinGen ExAC gnomAD |
|
| COSM1115113 | 902 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 907 | E>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA326799878 rs1035801933 |
908 | S>I | No |
ClinGen TOPMed |
|
|
CA412418781 rs1178264844 |
909 | R>Q | No |
ClinGen gnomAD |
|
| COSM4840521 | 910 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs763105912 CA10350388 |
911 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1465528 | 912 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350389 rs766664187 |
913 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766664187 CA412418805 |
913 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774857349 CA10350390 |
914 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA326799879 rs962568674 |
917 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 918 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM2151198 | 918 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs973018819 CA326799880 |
921 | D>N | No |
ClinGen TOPMed gnomAD |
|
| COSM4851016 | 922 | W>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412418879 rs2109135 |
923 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM3557806 | 925 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs753352631 CA10350396 COSM5411993 |
930 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA |
|
CA326799882 rs992762335 |
933 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 936 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756907617 CA10350397 |
937 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221772092 CA412419020 |
943 | V>A | No |
ClinGen gnomAD |
|
| COSM1115115 | 944 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs778480757 CA10350398 |
945 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 949 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 950 | Y>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412419081 rs1427688031 |
952 | K>T | No |
ClinGen gnomAD |
|
|
COSM1722804 rs1168315696 CA412419097 |
954 | W>* | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| COSM1569701 | 954 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA10350400 rs758187059 |
955 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA326799883 rs917269041 |
962 | L>S | No |
ClinGen Ensembl |
|
|
rs768589293 CA10350403 |
963 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1297221755 CA412419175 |
965 | Q>P | No |
ClinGen TOPMed |
|
|
CA10350404 rs777746435 |
966 | R>K | No |
ClinGen ExAC gnomAD |
|
| COSM4894828 | 969 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA412419292 rs1394232783 |
981 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1298391776 CA412419295 |
982 | P>A | No |
ClinGen gnomAD |
|
|
CA412419296 rs1298391776 |
982 | P>S | No |
ClinGen gnomAD |
|
|
rs771288970 CA10350406 |
986 | H>Y | No |
ClinGen ExAC |
|
|
rs1308551108 CA412419338 |
988 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs967894622 CA326799886 |
993 | R>Q | No |
ClinGen TOPMed |
|
|
rs1289732840 CA412419382 COSM3843562 |
995 | R>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA326799888 rs1044616066 COSM379503 |
995 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA326799889 rs113404862 |
999 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 999 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3557807 | 1000 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA326799890 rs926230222 |
1003 | Q>R | No |
ClinGen Ensembl |
|
|
CA412419462 rs1211459378 |
1006 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1020 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867775090 CA326799891 |
1025 | E>K | No |
ClinGen Ensembl |
|
|
rs1368371010 CA412419610 |
1027 | D>E | No |
ClinGen gnomAD |
|
|
rs1053695885 CA326799892 |
1029 | R>Q | No |
ClinGen gnomAD |
|
| COSM4106644 | 1029 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA326799893 rs891507976 |
1032 | N>S | No |
ClinGen Ensembl |
|
|
CA10350412 rs141586578 |
1033 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10350413 rs141586578 |
1033 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761301397 CA10350414 |
1035 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429091011 CA412419665 |
1036 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200421327 CA10350416 |
1039 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
1 associated diseases with Q9NR97
[MIM: 301078]: Immunodeficiency 98 with autoinflammation, X-linked (IMD98)
An X-linked disorder characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Features include mouth ulcers, fever, poor early growth, hepatosplenomegaly, lymphadenopathy, polyarthritis, and non-infectious enteritis. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked disorder characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Features include mouth ulcers, fever, poor early growth, hepatosplenomegaly, lymphadenopathy, polyarthritis, and non-infectious enteritis. . Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9NR97
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NR97 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR47410 | TOLL-LIKE RECEPTOR 7-RELATED |
| PANTHER Subfamily | PTHR47410:SF1 | TOLL-LIKE RECEPTOR 8 |
| PANTHER Protein Class | transmembrane signal receptor | |
| PANTHER Pathway Category |
Toll receptor signaling pathway TLR |
|
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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 membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| identical protein binding | Binding to an identical protein or proteins. |
| pattern recognition receptor activity | Combining with a pathogen-associated molecular pattern (PAMP), a structure conserved among microbial species to initiate an innate immune response. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| signaling receptor activity | Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. |
| single-stranded RNA binding | Binding to single-stranded RNA. |
18 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. |
| 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. |
| immunoglobulin mediated immune response | An immune response mediated by immunoglobulins, whether cell-bound or in solution. |
| 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. |
| negative regulation of interleukin-12 production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-12 production. |
| positive regulation of innate immune response | Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. |
| 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-1 beta production | Any process that activates or increases the frequency, rate, or extent of interleukin-1 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 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 virus | 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 virus. |
| toll-like receptor 8 signaling pathway | The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 8. |
| 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 | 20 | 30 | 40 | 50 | 60 |
| MENMFLQSSM | LTCIFLLISG | SCELCAEENF | SRSYPCDEKK | QNDSVIAECS | NRRLQEVPQT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VGKYVTELDL | SDNFITHITN | ESFQGLQNLT | KINLNHNPNV | QHQNGNPGIQ | SNGLNITDGA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FLNLKNLREL | LLEDNQLPQI | PSGLPESLTE | LSLIQNNIYN | ITKEGISRLI | NLKNLYLAWN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CYFNKVCEKT | NIEDGVFETL | TNLELLSLSF | NSLSHVPPKL | PSSLRKLFLS | NTQIKYISEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DFKGLINLTL | LDLSGNCPRC | FNAPFPCVPC | DGGASINIDR | FAFQNLTQLR | YLNLSSTSLR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KINAAWFKNM | PHLKVLDLEF | NYLVGEIASG | AFLTMLPRLE | ILDLSFNYIK | GSYPQHINIS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RNFSKLLSLR | ALHLRGYVFQ | ELREDDFQPL | MQLPNLSTIN | LGINFIKQID | FKLFQNFSNL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EIIYLSENRI | SPLVKDTRQS | YANSSSFQRH | IRKRRSTDFE | FDPHSNFYHF | TRPLIKPQCA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AYGKALDLSL | NSIFFIGPNQ | FENLPDIACL | NLSANSNAQV | LSGTEFSAIP | HVKYLDLTNN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RLDFDNASAL | TELSDLEVLD | LSYNSHYFRI | AGVTHHLEFI | QNFTNLKVLN | LSHNNIYTLT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DKYNLESKSL | VELVFSGNRL | DILWNDDDNR | YISIFKGLKN | LTRLDLSLNR | LKHIPNEAFL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NLPASLTELH | INDNMLKFFN | WTLLQQFPRL | ELLDLRGNKL | LFLTDSLSDF | TSSLRTLLLS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HNRISHLPSG | FLSEVSSLKH | LDLSSNLLKT | INKSALETKT | TTKLSMLELH | GNPFECTCDI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GDFRRWMDEH | LNVKIPRLVD | VICASPGDQR | GKSIVSLELT | TCVSDVTAVI | LFFFTFFITT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MVMLAALAHH | LFYWDVWFIY | NVCLAKVKGY | RSLSTSQTFY | DAYISYDTKD | ASVTDWVINE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LRYHLEESRD | KNVLLCLEER | DWDPGLAIID | NLMQSINQSK | KTVFVLTKKY | AKSWNFKTAF |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| YLALQRLMDE | NMDVIIFILL | EPVLQHSQYL | RLRQRICKSS | ILQWPDNPKA | EGLFWQTLRN |
| 1030 | 1040 | ||||
| VVLTENDSRY | NNMYVDSIKQ | Y |