O14763
EV
Gene name |
TNFRSF10B (DR5, KILLER, TRAILR2, TRICK2, ZTNFR9, UNQ160/PRO186) |
Protein name |
Tumor necrosis factor receptor superfamily member 10B |
Names |
Death receptor 5 , TNF-related apoptosis-inducing ligand receptor 2 , TRAIL receptor 2 , TRAIL-R2 , CD antigen CD262 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8795 |
EC number |
|
Protein Class |
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 10B (PTHR46330) |
Descriptions
Death receptor-5 (DR5) belongs to the tumor necrosis factor alpha (TNF-alpha) superfamily, contains three external cysteine-rich domain (CRD1-CRD3), and activates apoptotic signaling outside of cells. The negative regulatory function of a critical patch of positively charged residues (PPCR) within the CRD3 domain of DR3 is disrupted by sustained antibody binding, resulting in highly effective clustering of DR5 and apoptotic clustering to tumors.
Autoinhibitory domains (AIDs)
Target domain |
328-422 (Death domain) |
Relief mechanism |
Ligand binding |
Assay |
Structural analysis, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
14 structures for O14763
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1D0G | X-ray | 240 A | R/S/T | 54-183 | PDB |
| 1D4V | X-ray | 220 A | A | 69-184 | PDB |
| 1DU3 | X-ray | 220 A | A/B/C/G/H/I | 54-183 | PDB |
| 1ZA3 | X-ray | 335 A | R/S | 54-183 | PDB |
| 2H9G | X-ray | 232 A | R/S | 54-183 | PDB |
| 3X3F | X-ray | 210 A | A | 54-184 | PDB |
| 4I9X | X-ray | 210 A | C/D | 58-184 | PDB |
| 4N90 | X-ray | 330 A | R/S/T | 57-182 | PDB |
| 4OD2 | X-ray | 320 A | S | 73-183 | PDB |
| 6NHW | NMR | - | A/B/C/D/E/F | 208-242 | PDB |
| 6NHY | NMR | - | A/B/C | 208-242 | PDB |
| 6T3J | X-ray | 305 A | E/J | 58-184 | PDB |
| 8DPX | NMR | - | A/B/C | 77-184 | PDB |
| AF-O14763-F1 | Predicted | AlphaFoldDB |
561 variants for O14763
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1056740211 | 2 | E>K | No | TOPMed | |
| rs753825353 | 3 | Q>* | No |
ExAC gnomAD |
|
| rs1190108568 | 3 | Q>R | No |
TOPMed gnomAD |
|
| rs760265962 | 4 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1237680560 | 4 | R>L | No |
TOPMed gnomAD |
|
| rs1237680560 | 4 | R>Q | No |
TOPMed gnomAD |
|
| rs760265962 | 4 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1813085980 | 5 | G>* | No | TOPMed | |
|
rs771771088 COSM3785931 |
7 | N>S | pancreas [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs771771088 | 7 | N>T | No |
ExAC gnomAD |
|
| COSM6180337 | 8 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1271897909 | 8 | A>T | No |
TOPMed gnomAD |
|
| rs759200719 | 8 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs770340909 | 9 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs536473008 | 9 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs1372104009 | 10 | A>T | No | gnomAD | |
| rs1303507474 | 11 | A>T | No | gnomAD | |
| rs1813084641 | 11 | A>V | No | Ensembl | |
| COSM3925021 | 13 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1055576017 | 14 | A>T | No | TOPMed | |
| rs1813084099 | 14 | A>V | No | Ensembl | |
| rs1563328813 | 15 | R>Q | No | Ensembl | |
| rs550701314 | 15 | R>W | No |
1000Genomes ExAC gnomAD |
|
| rs1294645091 | 16 | K>E | No | Ensembl | |
| rs938431140 | 17 | R>K | No | TOPMed | |
| rs1813083565 | 18 | H>Q | No | 1000Genomes | |
|
RCV000886676 rs41308114 |
19 | G>D | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1813083486 | 19 | G>S | No | Ensembl | |
| rs779936522 | 20 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1813083232 | 20 | P>T | No | Ensembl | |
| rs746151222 | 21 | G>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1318520867 | 22 | P>S | No | TOPMed | |
| rs1251187799 | 23 | R>K | No | gnomAD | |
| rs1486450468 | 25 | A>E | No |
TOPMed gnomAD |
|
| rs1262893819 | 26 | R>W | No |
TOPMed gnomAD |
|
| rs985425967 | 27 | G>R | No | gnomAD | |
| rs977260397 | 28 | A>G | No |
TOPMed gnomAD |
|
| rs757087287 | 28 | A>T | No | ExAC | |
| rs1213259674 | 29 | R>T | No |
TOPMed gnomAD |
|
| rs1255546742 | 30 | P>S | No | Ensembl | |
| rs753595131 | 31 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs755948401 | 32 | P>A | No |
ExAC gnomAD |
|
|
rs1129424 VAR_016153 |
32 | P>L | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs755948401 | 32 | P>S | No |
ExAC gnomAD |
|
| rs1398922541 | 33 | R>W | No | Ensembl | |
| rs759105792 | 34 | V>A | No |
ExAC gnomAD |
|
| rs1813080039 | 35 | P>L | No | gnomAD | |
| rs1813080039 | 35 | P>R | No | gnomAD | |
| rs1286915309 | 35 | P>T | No | gnomAD | |
| rs1813079875 | 37 | T>A | No | Ensembl | |
| rs1813079797 | 37 | T>I | No | gnomAD | |
| rs1452869399 | 38 | L>H | No | gnomAD | |
| rs1452869399 | 38 | L>P | No | gnomAD | |
| rs774194756 | 39 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs774194756 | 39 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1813079385 | 40 | L>F | No | TOPMed | |
| rs1813079385 | 40 | L>V | No | TOPMed | |
| rs1436796732 | 41 | V>I | No |
TOPMed gnomAD |
|
| TCGA novel | 41 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1813079043 | 42 | V>L | No | Ensembl | |
| rs1813078888 | 43 | A>T | No | TOPMed | |
| rs1417734654 | 43 | A>V | No | Ensembl | |
|
TCGA novel rs1813078724 |
44 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1379244176 | 47 | L>P | No | Ensembl | |
| rs769215218 | 47 | L>V | No |
ExAC gnomAD |
|
| rs772531351 | 49 | V>A | No |
ExAC gnomAD |
|
| rs772531351 | 49 | V>G | No |
ExAC gnomAD |
|
| rs1392147672 | 51 | A>V | No | gnomAD | |
| rs774359941 | 52 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs201504540 | 52 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs771146779 | 53 | S>F | No |
ExAC gnomAD |
|
| rs2128815918 | 53 | S>P | No | Ensembl | |
| rs377645383 | 54 | A>T | No |
ESP TOPMed gnomAD |
|
| rs749539629 | 56 | I>V | No | ExAC | |
|
rs1812259636 COSM4893742 |
57 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs1474471373 | 59 | Q>E | No | gnomAD | |
| rs747943006 | 60 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1289639007 | 60 | D>H | No | TOPMed | |
| rs1317869813 | 61 | L>V | No |
TOPMed gnomAD |
|
| rs781307433 | 62 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs141261834 | 63 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 63 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1439147677 | 63 | P>T | No | gnomAD | |
| rs779636261 | 64 | Q>H | No |
ExAC gnomAD |
|
| rs1563315889 | 65 | Q>* | No | TOPMed | |
| rs954345206 | 66 | R>S | No | Ensembl | |
| rs757973146 | 66 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs1047266 | 67 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1047266 | 67 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs750099768 | 67 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
rs1047266 VAR_016154 |
67 | A>V | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs753058398 | 68 | A>V | No |
ExAC TOPMed gnomAD |
|
|
COSM1699813 rs768030379 |
69 | P>S | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1812257825 | 70 | Q>* | No | Ensembl | |
| rs774835669 | 70 | Q>L | No |
ExAC gnomAD |
|
| rs774835669 | 70 | Q>R | No |
ExAC gnomAD |
|
| rs201923391 | 71 | Q>* | No | Ensembl | |
| TCGA novel | 73 | R>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs891013809 | 73 | R>K | No | TOPMed | |
| rs1404075777 | 74 | S>A | No | gnomAD | |
| rs1472793193 | 74 | S>C | No |
TOPMed gnomAD |
|
| rs202151480 | 75 | S>N | No |
1000Genomes ESP ExAC gnomAD |
|
| rs1159473571 | 75 | S>R | No | gnomAD | |
| rs1303410809 | 76 | P>H | No |
TOPMed gnomAD |
|
| rs1303410809 | 76 | P>L | No |
TOPMed gnomAD |
|
| rs1303410809 | 76 | P>R | No |
TOPMed gnomAD |
|
| rs770017158 | 77 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1177608049 | 78 | E>D | No |
TOPMed gnomAD |
|
| rs866957694 | 78 | E>G | No |
TOPMed gnomAD |
|
| rs1361645001 | 78 | E>K | No | gnomAD | |
| rs1454385930 | 79 | G>E | No | gnomAD | |
| rs1047453628 | 80 | L>M | No |
TOPMed gnomAD |
|
| rs1812256189 | 80 | L>S | No | Ensembl | |
| rs747916816 | 83 | P>A | No |
ExAC gnomAD |
|
| rs1374556099 | 83 | P>H | No | gnomAD | |
| rs747916816 | 83 | P>S | No |
ExAC gnomAD |
|
| rs1422698978 | 84 | G>V | No | gnomAD | |
| rs1486127168 | 85 | H>D | No |
TOPMed gnomAD |
|
| rs1563309153 | 85 | H>L | No | Ensembl | |
| rs1486127168 | 85 | H>Y | No |
TOPMed gnomAD |
|
| rs1259943458 | 86 | H>R | No | gnomAD | |
| rs1811861769 | 87 | I>T | No | TOPMed | |
| rs1441954339 | 88 | S>L | No | gnomAD | |
| rs1273774663 | 89 | E>Q | No |
TOPMed gnomAD |
|
| rs1316550648 | 91 | G>S | No |
TOPMed gnomAD |
|
| rs1811861210 | 93 | D>G | No | Ensembl | |
| rs1811860977 | 94 | C>Y | No | gnomAD | |
| rs1811860558 | 95 | I>M | No | TOPMed | |
| rs1811860645 | 95 | I>N | No |
TOPMed gnomAD |
|
| rs146841442 | 95 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs200014104 | 96 | S>F | No |
1000Genomes ExAC gnomAD |
|
|
COSM165030 rs1446810612 |
97 | C>Y | NS [Cosmic] | No |
cosmic curated gnomAD |
| rs1354556618 | 98 | K>T | No |
TOPMed gnomAD |
|
| rs765424296 | 99 | Y>H | No |
ExAC gnomAD |
|
| rs761782807 | 102 | D>N | No |
ExAC gnomAD |
|
| rs1476101331 | 103 | Y>C | No | gnomAD | |
| rs777038492 | 103 | Y>H | No |
ExAC TOPMed gnomAD |
|
| rs867234351 | 104 | S>I | No | TOPMed | |
| rs867234351 | 104 | S>N | No | TOPMed | |
| rs764376932 | 105 | T>I | No |
ExAC gnomAD |
|
| rs760575056 | 106 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs775369143 | 107 | W>* | No | ExAC | |
| rs771911409 | 108 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs745888724 | 109 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2128812460 | 109 | D>Y | No | Ensembl | |
| rs1811859103 | 110 | L>V | No | TOPMed | |
| rs770524322 | 115 | R>C | No |
ExAC TOPMed gnomAD |
|
|
COSM183300 rs529765232 |
115 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA TOPMed gnomAD |
| rs529765232 | 115 | R>P | No |
TOPMed gnomAD |
|
| rs770524322 | 115 | R>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 116 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs985170916 | 117 | T>A | No |
TOPMed gnomAD |
|
| rs1811858498 | 117 | T>I | No | gnomAD | |
| rs985170916 | 117 | T>P | No |
TOPMed gnomAD |
|
| rs1563308996 | 118 | R>S | No |
TOPMed gnomAD |
|
| rs953909031 | 118 | R>T | No |
TOPMed gnomAD |
|
| rs1811858215 | 119 | C>F | No | TOPMed | |
| rs748767310 | 120 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1029452037 | 120 | D>H | No |
TOPMed gnomAD |
|
| rs561183014 | 121 | S>* | No | Ensembl | |
| rs1811823450 | 122 | G>A | No | TOPMed | |
| rs1444006103 | 122 | G>S | No | gnomAD | |
| rs988809982 | 123 | E>K | No | Ensembl | |
| rs1175642876 | 124 | V>A | No |
TOPMed gnomAD |
|
| rs377756817 | 124 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1300556095 | 125 | E>D | No | gnomAD | |
| rs778069442 | 126 | L>V | No |
ExAC gnomAD |
|
| rs756252627 | 127 | S>T | No |
ExAC gnomAD |
|
| rs753017207 | 128 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs1811822354 | 129 | C>F | No | Ensembl | |
| rs1398386139 | 129 | C>R | No | gnomAD | |
| rs1313694355 | 130 | T>N | No | gnomAD | |
| rs1467704241 | 131 | T>A | No | gnomAD | |
| rs759407943 | 131 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1466133664 | 133 | R>G | No | Ensembl | |
| rs142417651 | 136 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs766314790 | 136 | V>L | No | ExAC | |
| rs1811821094 | 137 | C>R | No | gnomAD | |
| rs925181423 | 138 | Q>K | No | Ensembl | |
| rs773129090 | 138 | Q>P | No |
ExAC gnomAD |
|
| rs773129090 | 138 | Q>R | No |
ExAC gnomAD |
|
| rs1309012450 | 139 | C>R | No | Ensembl | |
| rs1191871789 | 139 | C>Y | No | gnomAD | |
|
rs761287157 COSM264111 |
140 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs979345082 | 141 | E>K | No | TOPMed | |
| rs964324040 | 142 | G>C | No | Ensembl | |
| rs1367098533 | 143 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1367098533 | 143 | T>N | No | gnomAD | |
| rs1585208539 | 143 | T>P | No | Ensembl | |
| rs542213874 | 145 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs542213874 | 145 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs149217492 | 145 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1304280291 | 146 | E>D | No | Ensembl | |
| rs1187662934 | 146 | E>G | No | gnomAD | |
| rs1228102338 | 146 | E>K | No | gnomAD | |
| rs572250195 | 147 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs779082473 | 147 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1811819927 | 147 | E>K | No | TOPMed | |
| rs1811819927 | 147 | E>Q | No | TOPMed | |
| rs779082473 | 147 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs560429397 | 148 | D>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs541556717 | 149 | S>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs541556717 | 149 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs574425915 | 150 | P>L | No |
1000Genomes TOPMed gnomAD |
|
| rs756303303 | 150 | P>S | No |
ExAC gnomAD |
|
| rs145429085 | 152 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs755099736 | 154 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs751372067 | 154 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs755099736 | 154 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1811818925 | 156 | C>R | No |
TOPMed gnomAD |
|
| rs555994311 | 157 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1098205 rs765125215 |
157 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs555994311 | 157 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs761414403 | 158 | T>I | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 159 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1168890252 | 159 | G>R | No | TOPMed | |
| rs184681902 | 159 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1356037788 | 161 | P>L | No | gnomAD | |
| rs1811783137 | 163 | G>W | No | gnomAD | |
| rs1419773040 | 164 | M>I | No | TOPMed | |
| rs1417205378 | 164 | M>V | No | TOPMed | |
|
TCGA novel rs773655476 |
165 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs773655476 | 165 | V>I | No |
ExAC gnomAD |
|
| rs1277156080 | 166 | K>N | No | gnomAD | |
| rs748667891 | 168 | G>S | No |
ExAC gnomAD |
|
| rs1563307737 | 169 | D>V | No | Ensembl | |
| rs1161479470 | 169 | D>Y | No | TOPMed | |
| rs1811782258 | 170 | C>S | No | TOPMed | |
| rs1401471669 | 171 | T>A | No | gnomAD | |
| rs768665858 | 171 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs747060098 | 172 | P>L | No |
ExAC gnomAD |
|
| rs376968508 | 173 | W>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs979392688 | 174 | S>N | No |
TOPMed gnomAD |
|
| rs150063854 | 175 | D>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1477633792 | 176 | I>T | No |
TOPMed gnomAD |
|
| rs1416506370 | 176 | I>V | No |
TOPMed gnomAD |
|
| rs139403599 | 177 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs147358455 | 178 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1811781097 | 179 | V>I | No | TOPMed | |
| COSM5139817 | 181 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2128811835 | 181 | K>Q | No | Ensembl | |
| rs1811780966 | 181 | K>R | No | gnomAD | |
|
rs867695218 COSM1098201 |
182 | E>* | Variant assessed as Somatic; HIGH impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs1563307682 | 183 | S>L | No | Ensembl | |
| rs954785003 | 184 | G>S | No | Ensembl | |
| rs1216121356 | 185 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1216121356 | 185 | T>K | No |
TOPMed gnomAD |
|
| rs1216121356 | 185 | T>R | No |
TOPMed gnomAD |
|
| rs777735062 | 186 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs755611098 | 187 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1443121939 | 187 | H>R | No | gnomAD | |
| rs2128811829 | 187 | H>Y | No | Ensembl | |
| rs752209109 | 188 | S>G | No |
ExAC gnomAD |
|
| rs767294708 | 188 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs767294708 | 188 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs759200886 | 189 | G>R | No |
ExAC gnomAD |
|
|
VAR_059831 rs13265018 |
191 | V>A | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs13265018 | 191 | V>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs13265018 | 191 | V>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs930707425 | 192 | P>T | No |
TOPMed gnomAD |
|
| rs1563307636 | 193 | A>D | No | Ensembl | |
| rs765576431 | 195 | E>A | No |
ExAC gnomAD |
|
| rs765576431 | 195 | E>V | No |
ExAC gnomAD |
|
| TCGA novel | 196 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762213038 | 196 | E>Q | No |
ExAC gnomAD |
|
| rs777040114 | 197 | T>A | No |
ExAC gnomAD |
|
| rs61756238 | 197 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs777040114 | 197 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs200164006 | 198 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1395411868 | 199 | T>N | No | TOPMed | |
| rs1585207525 | 199 | T>P | No | Ensembl | |
| rs2128811817 | 200 | S>T | No | Ensembl | |
| rs150556549 | 201 | S>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1476740097 | 201 | S>R | No | gnomAD | |
| rs2128811813 | 202 | P>L | No | Ensembl | |
| rs1811778382 | 202 | P>S | No | gnomAD | |
| rs1422622965 | 203 | G>E | No |
TOPMed gnomAD |
|
| rs1585207508 | 204 | T>A | No | TOPMed | |
| rs1442912085 | 204 | T>I | No | TOPMed | |
| rs1585207508 | 204 | T>P | No | TOPMed | |
| rs375506479 | 205 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs779175748 | 207 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs779175748 | 207 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs1370592638 | 208 | P>S | No |
TOPMed gnomAD |
|
| rs917427472 | 209 | C>F | No | TOPMed | |
| rs917427472 | 209 | C>Y | No | TOPMed | |
| rs749071336 | 210 | S>A | No |
ExAC gnomAD |
|
| rs777597648 | 210 | S>F | No |
ExAC gnomAD |
|
| rs1232561538 | 213 | G>S | No |
TOPMed gnomAD |
|
| rs756025456 | 214 | I>V | No |
ExAC gnomAD |
|
| rs1257771162 | 215 | I>N | No |
TOPMed gnomAD |
|
| rs1585207425 | 216 | I>M | No | Ensembl | |
| rs888381397 | 216 | I>T | No |
TOPMed gnomAD |
|
| rs1308583224 | 216 | I>V | No | TOPMed | |
| COSM1098197 | 217 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1380815614 | 218 | V>L | No |
TOPMed gnomAD |
|
| rs1282049665 | 219 | T>A | No | gnomAD | |
| rs1044244684 | 219 | T>I | No | gnomAD | |
| rs1044244684 | 219 | T>R | No | gnomAD | |
| rs1282049665 | 219 | T>S | No | gnomAD | |
| rs1376948334 | 220 | V>I | No | gnomAD | |
| rs61761317 | 221 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1585207398 | 221 | A>P | No | Ensembl | |
| rs61761317 | 221 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs564606277 | 222 | A>G | No |
1000Genomes ExAC |
|
| rs1811775750 | 222 | A>P | No |
TOPMed gnomAD |
|
| rs564606277 | 222 | A>V | No |
1000Genomes ExAC |
|
| rs368188428 | 223 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs368188428 | 223 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs977777101 | 224 | V>I | No | TOPMed | |
| rs1172491049 | 225 | L>S | No |
TOPMed gnomAD |
|
| rs759582606 | 226 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs142057242 | 226 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs774468297 | 227 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs749054165 | 229 | V>G | No |
ExAC gnomAD |
|
| rs771135483 | 229 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs771135483 | 229 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1811774390 | 230 | F>L | No | TOPMed | |
| rs772997684 | 230 | F>V | No |
ExAC gnomAD |
|
| rs1563307424 | 231 | V>I | No | Ensembl | |
| rs1357819008 | 232 | C>G | No | Ensembl | |
| rs375815613 | 232 | C>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs375815613 | 232 | C>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1287344263 | 234 | S>F | No |
TOPMed gnomAD |
|
| rs781250474 | 235 | L>S | No |
ExAC TOPMed gnomAD |
|
| rs560759733 | 238 | K>* | No |
1000Genomes ExAC gnomAD |
|
| rs978451470 | 239 | K>N | No | Ensembl | |
| rs1444485360 | 241 | L>F | No | gnomAD | |
| TCGA novel | 242 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1271532189 | 243 | Y>* | No |
TOPMed gnomAD |
|
| rs1563307384 | 243 | Y>H | No | Ensembl | |
| rs779594561 | 246 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs947592465 | 246 | G>S | No | Ensembl | |
| rs779594561 | 246 | G>V | No |
ExAC TOPMed gnomAD |
|
|
COSM1699812 rs758010626 |
249 | S>L | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1256252034 | 251 | G>A | No | gnomAD | |
| rs1256252034 | 251 | G>D | No | gnomAD | |
| rs1427514960 | 251 | G>S | No | gnomAD | |
| rs1487526202 | 252 | G>D | No |
TOPMed gnomAD |
|
| rs760730840 | 252 | G>R | No |
ExAC gnomAD |
|
| rs760730840 | 252 | G>S | No |
ExAC gnomAD |
|
| rs1487526202 | 252 | G>V | No |
TOPMed gnomAD |
|
| rs1481986106 | 253 | G>R | No | gnomAD | |
| rs1811751598 | 254 | D>G | No | Ensembl | |
| rs775274443 | 254 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs943005989 | 255 | P>R | No | TOPMed | |
| rs1216454469 | 255 | P>T | No | Ensembl | |
|
rs1319763371 COSM1623863 |
256 | E>K | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1319763371 | 256 | E>Q | No |
TOPMed gnomAD |
|
| rs141856351 | 257 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs185830763 | 257 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs185830763 | 257 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs185830763 | 257 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs141856351 | 257 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1326013773 | 258 | V>E | No |
TOPMed gnomAD |
|
| rs1811750298 | 260 | R>K | No | Ensembl | |
| rs997126972 | 261 | S>G | No | Ensembl | |
|
rs138183043 COSM4878937 |
264 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1327423751 COSM285842 |
264 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs749002358 | 265 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs530146218 | 265 | P>H | No |
TOPMed gnomAD |
|
| rs749002358 | 265 | P>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1391878339 | 266 | G>V | No | gnomAD | |
| rs777384758 | 267 | A>P | No |
ExAC gnomAD |
|
| rs777384758 | 267 | A>S | No |
ExAC gnomAD |
|
| rs1456024759 | 267 | A>V | No | gnomAD | |
| rs1360433797 | 269 | D>H | No |
TOPMed gnomAD |
|
| rs769108466 | 270 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1415993068 | 270 | N>S | No |
TOPMed gnomAD |
|
| rs964538489 | 271 | V>A | No | TOPMed | |
| rs1447514411 | 272 | L>I | No | TOPMed | |
| rs1018413365 | 272 | L>R | No | TOPMed | |
| rs780629655 | 273 | N>Y | No |
ExAC TOPMed gnomAD |
|
| COSM264110 | 274 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1456138 rs141284481 |
275 | I>M | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs750534468 | 275 | I>T | No |
ExAC gnomAD |
|
| rs748928192 | 276 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| TCGA novel | 277 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760543723 | 280 | Q>* | No |
ExAC gnomAD |
|
| rs1811729237 | 281 | P>T | No | gnomAD | |
| rs1345927579 | 282 | T>A | No |
TOPMed gnomAD |
|
| rs138851047 | 282 | T>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs767495528 | 283 | Q>R | No |
ExAC gnomAD |
|
| rs759539959 | 284 | V>A | No |
ExAC gnomAD |
|
| rs759539959 | 284 | V>D | No |
ExAC gnomAD |
|
| rs1278343694 | 284 | V>I | No | gnomAD | |
| COSM4840745 | 288 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM5912875 | 288 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs762422261 | 289 | M>I | No |
ExAC gnomAD |
|
| rs765925630 | 289 | M>V | No |
ExAC gnomAD |
|
| rs1279781251 | 294 | P>T | No | gnomAD | |
| rs1563306357 | 295 | A>T | No | Ensembl | |
| rs1421034767 | 296 | E>K | No | gnomAD | |
| rs769279062 | 299 | G>D | No |
ExAC gnomAD |
|
| rs769279062 | 299 | G>V | No |
ExAC gnomAD |
|
| rs1811726973 | 302 | M>I | No |
TOPMed gnomAD |
|
| rs772479699 | 302 | M>K | No |
ExAC TOPMed gnomAD |
|
| rs772479699 | 302 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs772479699 | 302 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs775646524 | 302 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs746434302 | 303 | L>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3647325 | 305 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757451275 | 306 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs757451275 | 306 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1268536585 | 306 | G>R | No |
TOPMed gnomAD |
|
|
rs199909973 COSM4399711 |
307 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1643571 rs1811726236 |
308 | S>L | stomach [Cosmic] | No |
cosmic curated Ensembl |
| rs1205065449 | 310 | H>Q | No | gnomAD | |
| rs1811726169 | 310 | H>Y | No | TOPMed | |
| rs1346252126 | 311 | L>M | No | gnomAD | |
| rs2128811447 | 312 | L>P | No | Ensembl | |
| COSM3899000 | 313 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1402612177 | 313 | E>K | No |
TOPMed gnomAD |
|
| rs141046996 | 314 | P>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs141021862 | 314 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs141021862 | 314 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs141046996 | 314 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs141046996 | 314 | P>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs771417994 | 316 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1811632982 | 317 | A>P | No | Ensembl | |
| rs1182328048 | 318 | E>G | No | gnomAD | |
| TCGA novel | 318 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2128810875 | 319 | R>G | No | Ensembl | |
| rs763429391 | 319 | R>S | No |
ExAC gnomAD |
|
| rs1811632628 | 320 | S>P | No |
TOPMed gnomAD |
|
| rs1239186595 | 323 | R>K | No |
TOPMed gnomAD |
|
| rs2128810874 | 324 | R>M | No | Ensembl | |
| TCGA novel | 325 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1811632174 | 327 | V>I | No | TOPMed | |
| rs769809226 | 328 | P>L | No |
ExAC gnomAD |
|
| rs1811631983 | 329 | A>V | No | Ensembl | |
| rs1228486775 | 330 | N>K | No |
TOPMed gnomAD |
|
| rs780516107 | 331 | E>* | No | Ensembl | |
| rs1357885074 | 331 | E>D | No | gnomAD | |
| rs1176101613 | 333 | D>E | No | Ensembl | |
| rs1811631352 | 333 | D>Y | No | gnomAD | |
| rs748221230 | 334 | P>T | No |
ExAC gnomAD |
|
| rs781294720 | 335 | T>I | No |
ExAC gnomAD |
|
| rs768805737 | 336 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs1811630571 | 336 | E>D | No |
TOPMed gnomAD |
|
| rs1341136453 | 341 | C>S | No | TOPMed | |
| rs778737106 | 343 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs778737106 | 343 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs1585204087 COSM3834442 |
344 | D>Y | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1282621629 | 345 | F>C | No |
TOPMed gnomAD |
|
| rs753715279 | 349 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs753715279 | 349 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1811582115 | 350 | P>S | No | TOPMed | |
| rs201068780 | 352 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201068780 | 352 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs752440091 | 353 | S>F | No |
ExAC gnomAD |
|
| rs375688257 | 354 | W>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1036873542 | 356 | P>A | No |
TOPMed gnomAD |
|
| rs779676594 | 356 | P>L | No |
ExAC gnomAD |
|
| rs1474092693 | 357 | L>F | No |
TOPMed gnomAD |
|
| rs762446032 | 358 | M>I | No |
ExAC gnomAD |
|
| rs765663059 | 358 | M>L | No |
ExAC gnomAD |
|
| rs888236227 | 360 | K>N | No |
TOPMed gnomAD |
|
| rs1160287168 | 361 | L>F | No |
TOPMed gnomAD |
|
| rs1811580555 | 362 | G>D | No | TOPMed | |
| rs760712948 | 364 | M>I | No |
ExAC gnomAD |
|
| rs764204641 | 364 | M>L | No |
ExAC gnomAD |
|
| rs1391291745 | 364 | M>T | No | TOPMed | |
| rs764204641 | 364 | M>V | No |
ExAC gnomAD |
|
| rs775720998 | 365 | D>N | No |
ExAC gnomAD |
|
| rs1456040578 | 365 | D>V | No | TOPMed | |
| rs772288130 | 367 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs745655468 | 368 | I>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 370 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs538817078 | 370 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1397828904 | 372 | K>R | No | Ensembl | |
| rs749288232 | 374 | E>D | No |
ExAC gnomAD |
|
| rs1332310747 | 375 | A>T | No |
TOPMed gnomAD |
|
| rs777825298 | 376 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs61756237 | 376 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1486501867 | 377 | G>A | No |
TOPMed gnomAD |
|
| rs1486501867 | 377 | G>D | No |
TOPMed gnomAD |
|
| rs1260037708 | 379 | R>K | No | TOPMed | |
| rs144232345 | 379 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1260037708 | 379 | R>T | No | TOPMed | |
| rs754588771 | 381 | T>I | No |
ExAC gnomAD |
|
| rs1201620710 | 382 | L>S | No |
TOPMed gnomAD |
|
| rs1057358825 | 382 | L>V | No | Ensembl | |
| rs1308358059 | 383 | Y>S | No |
TOPMed gnomAD |
|
| rs201130588 | 384 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs201130588 | 384 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs201130588 | 384 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1755973745 | 385 | M>L | No | TOPMed | |
| rs1413794124 | 385 | M>T | No | Ensembl | |
| rs978935198 | 387 | I>T | No | Ensembl | |
| rs1294219488 | 388 | K>Q | No |
TOPMed gnomAD |
|
| rs1811577592 | 389 | W>* | No | Ensembl | |
| rs757536315 | 391 | N>D | No |
ExAC gnomAD |
|
| rs923653498 | 392 | K>I | No | TOPMed | |
| rs947473456 | 393 | T>I | No |
TOPMed gnomAD |
|
| rs947473456 | 393 | T>S | No |
TOPMed gnomAD |
|
|
rs571677132 COSM1098195 |
394 | G>R | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM251173 rs1176091235 |
394 | G>V | liver [Cosmic] | No |
cosmic curated gnomAD |
| rs760766067 | 395 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs775489972 | 395 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs767491717 | 396 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1306046214 | 396 | D>V | No | TOPMed | |
| rs759860991 | 397 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1427464117 | 398 | S>F | No |
TOPMed gnomAD |
|
| rs1256185752 | 399 | V>I | No | gnomAD | |
| rs1185382500 | 400 | H>Y | No |
TOPMed gnomAD |
|
| rs774416391 | 401 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs1346517798 | 403 | L>M | No | TOPMed | |
| rs770800341 | 404 | D>A | No |
ExAC gnomAD |
|
| rs770800341 | 404 | D>G | No |
ExAC gnomAD |
|
| TCGA novel | 404 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1811575516 | 406 | L>S | No | TOPMed | |
| rs1811575574 | 406 | L>V | No | TOPMed | |
| rs115227284 | 408 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs780817848 | 410 | G>E | No |
ExAC gnomAD |
|
| rs780817848 | 410 | G>V | No |
ExAC gnomAD |
|
| rs564770528 | 411 | E>G | No |
1000Genomes ExAC TOPMed |
|
| rs1563303865 | 412 | R>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1563303859 | 413 | L>F | No | Ensembl | |
| rs148653452 | 413 | L>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1585203889 | 414 | A>G | No | Ensembl | |
| rs1811574455 | 414 | A>P | No |
TOPMed gnomAD |
|
| rs1811574455 | 414 | A>T | No |
TOPMed gnomAD |
|
| rs1466618400 | 415 | K>* | No | Ensembl | |
| rs779539123 | 416 | Q>L | No |
ExAC gnomAD |
|
| rs779539123 | 416 | Q>R | No |
ExAC gnomAD |
|
| rs757649273 | 417 | K>M | No |
ExAC gnomAD |
|
| rs1811573928 | 417 | K>N | No | Ensembl | |
| rs1392380873 | 418 | I>L | No | gnomAD | |
| rs745771786 | 418 | I>T | No |
TOPMed gnomAD |
|
| rs1811573538 | 420 | D>E | No | Ensembl | |
| rs1430447229 | 420 | D>Y | No | TOPMed | |
| rs1399059075 | 421 | H>N | No |
TOPMed gnomAD |
|
| rs1811573374 | 421 | H>P | No | Ensembl | |
| rs1170593969 | 422 | L>F | No | TOPMed | |
| rs888182475 | 424 | S>N | No | gnomAD | |
| rs754153133 | 426 | G>R | No | ExAC | |
| rs778266094 | 427 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1811572759 | 427 | K>Q | No |
TOPMed gnomAD |
|
| rs1811572354 | 428 | F>L | No | Ensembl | |
| rs753189616 | 429 | M>I | No |
ExAC gnomAD |
|
| rs1811572227 | 429 | M>L | No | gnomAD | |
| rs756681299 | 429 | M>T | No |
ExAC gnomAD |
|
| rs1179154296 | 430 | Y>* | No | gnomAD | |
| rs759504507 | 430 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs371456402 | 430 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs371456402 | 430 | Y>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1811571422 | 432 | E>A | No | TOPMed | |
| rs1811571312 | 432 | E>D | No | gnomAD | |
| rs1368028232 | 432 | E>Q | No |
TOPMed gnomAD |
|
| rs150775344 | 433 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1811571084 | 435 | A>G | No | gnomAD | |
| rs766466093 | 435 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1192621998 | 436 | D>Y | No |
TOPMed gnomAD |
|
| rs1248101177 | 438 | A>D | No | gnomAD | |
| rs762859107 | 438 | A>S | No |
ExAC TOPMed |
|
| rs773078621 | 439 | M>V | No |
ExAC gnomAD |
|
| rs1811569703 | 440 | S>P | No | Ensembl |
1 associated diseases with O14763
[MIM: 275355]: Squamous cell carcinoma of the head and neck (HNSCC)
A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A non-melanoma skin cancer affecting the head and neck. The hallmark of cutaneous SCC is malignant transformation of normal epidermal keratinocytes. Note=The disease may be caused by variants affecting the gene represented in this entry.
5 regional properties for O14763
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Death domain | 328 - 422 | IPR000488 |
| domain | TNFR/NGFR cysteine-rich region | 96 - 137 | IPR001368-1 |
| domain | TNFR/NGFR cysteine-rich region | 138 - 178 | IPR001368-2 |
| domain | Tumor necrosis factor receptor 10, N-terminal | 77 - 179 | IPR034024 |
| domain | Tumour necrosis factor receptor 10A/B, death domain | 341 - 428 | IPR034029 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR46330 | TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 10B |
| PANTHER Subfamily | PTHR46330:SF1 | TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 10B |
| PANTHER Protein Class | transmembrane signal receptor | |
| PANTHER Pathway Category |
Apoptosis signaling pathway TRAIL-R p53 pathway KILLER/DR5 |
|
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| TRAIL binding | Binding to TRAIL (TNF-related apoptosis inducing ligand), a member of the tumor necrosis factor ligand family that rapidly induces apoptosis in a variety of transformed cell lines. |
| TRAIL receptor activity | Combining with the ligand TRAIL (tumor necrosis factor-related apoptosis-inducing ligand) and transmitting the signal from one side of the plasma membrane to the other to initiate apoptotic cell death. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of NF-kappaB-inducing kinase activity | The stimulation of the activity of NF-kappaB-inducing kinase through phosphorylation at specific residues. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| 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 tumor cell | Reactions triggered in response to the presence of a tumor cell that act to protect the cell or organism. |
| extrinsic apoptotic signaling pathway via death domain receptors | The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with a ligand binding to a death domain receptor on the cell surface, and ends when the execution phase of apoptosis is triggered. |
| intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced in response to a stimulus indicating endoplasmic reticulum (ER) stress, and ends when the execution phase of apoptosis is triggered. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of canonical NF-kappaB signal transduction | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
| response to endoplasmic reticulum stress | 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 stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
| TRAIL-activated apoptotic signaling pathway | An extrinsic apoptotic signaling pathway initiated by the binding of the ligand TRAIL (tumor necrosis factor-related apoptosis-inducing ligand) to a death receptor on the cell surface. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UBN6 | TNFRSF10D | Tumor necrosis factor receptor superfamily member 10D | Homo sapiens (Human) | PR |
| O14798 | TNFRSF10C | Tumor necrosis factor receptor superfamily member 10C | Homo sapiens (Human) | PR |
| O00220 | TNFRSF10A | Tumor necrosis factor receptor superfamily member 10A | Homo sapiens (Human) | SS |
| Q9QZM4 | Tnfrsf10b | Tumor necrosis factor receptor superfamily member 10B | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEQRGQNAPA | ASGARKRHGP | GPREARGARP | GPRVPKTLVL | VVAAVLLLVS | AESALITQQD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAPQQRAAPQ | QKRSSPSEGL | CPPGHHISED | GRDCISCKYG | QDYSTHWNDL | LFCLRCTRCD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SGEVELSPCT | TTRNTVCQCE | EGTFREEDSP | EMCRKCRTGC | PRGMVKVGDC | TPWSDIECVH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KESGTKHSGE | VPAVEETVTS | SPGTPASPCS | LSGIIIGVTV | AAVVLIVAVF | VCKSLLWKKV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPYLKGICSG | GGGDPERVDR | SSQRPGAEDN | VLNEIVSILQ | PTQVPEQEME | VQEPAEPTGV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NMLSPGESEH | LLEPAEAERS | QRRRLLVPAN | EGDPTETLRQ | CFDDFADLVP | FDSWEPLMRK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LGLMDNEIKV | AKAEAAGHRD | TLYTMLIKWV | NKTGRDASVH | TLLDALETLG | ERLAKQKIED |
| 430 | |||||
| HLLSSGKFMY | LEGNADSAMS |