O00220
SS
Gene name |
TNFRSF10A (APO2, DR4, TRAILR1) |
Protein name |
Tumor necrosis factor receptor superfamily member 10A |
Names |
Death receptor 4 , TNF-related apoptosis-inducing ligand receptor 1 , TRAIL receptor 1 , TRAIL-R1 , CD antigen CD261 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8797 |
EC number |
|
Protein Class |
|
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 |
354-448 (Death domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for O00220
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5CIR | X-ray | 300 A | E/F/G | 125-232 | PDB |
| AF-O00220-F1 | Predicted | AlphaFoldDB |
672 variants for O00220
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs1045481206 | 2 | A>P | No | TOPMed | |
| rs1045481206 | 2 | A>T | No | TOPMed | |
| rs1801322161 | 3 | P>L | No | Ensembl | |
| rs1162697631 | 3 | P>S | No | gnomAD | |
| rs763276148 | 4 | P>L | No |
ExAC gnomAD |
|
| rs372908269 | 5 | P>A | No |
ESP TOPMed gnomAD |
|
| rs1204911382 | 5 | P>L | No |
TOPMed gnomAD |
|
| rs1184948098 | 7 | R>G | No |
TOPMed gnomAD |
|
| rs368319860 | 7 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3942609 rs1251501494 |
8 | V>A | oesophagus [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs765147198 | 8 | V>I | No |
ExAC gnomAD |
|
| rs765147198 | 8 | V>L | No |
ExAC gnomAD |
|
| rs1439783910 | 9 | H>N | No |
TOPMed gnomAD |
|
| rs1199728741 | 9 | H>R | No | gnomAD | |
| rs1439783910 | 9 | H>Y | No |
TOPMed gnomAD |
|
| rs1348940584 | 10 | L>V | No |
TOPMed gnomAD |
|
| rs34737614 | 11 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_052349 rs34737614 |
11 | G>V | No |
UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs776475719 | 12 | A>T | No |
ExAC gnomAD |
|
| rs768188842 | 12 | A>V | No |
ExAC gnomAD |
|
| rs1801321526 | 13 | F>L | No | Ensembl | |
| rs1200005068 | 14 | L>Q | No | gnomAD | |
| rs1256967311 | 16 | V>L | No |
TOPMed gnomAD |
|
| rs1349682672 | 18 | P>L | No | gnomAD | |
| rs1349682672 | 18 | P>R | No | gnomAD | |
| rs775203714 | 19 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1801321150 | 20 | P>L | No | Ensembl | |
| rs1801321208 | 20 | P>S | No | gnomAD | |
| rs745529923 | 21 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs370554161 | 22 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs748620303 | 24 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs377580417 | 24 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs748620303 | 24 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1162044271 | 25 | S>N | No | gnomAD | |
| rs755084344 | 26 | G>E | No |
ExAC gnomAD |
|
| rs1456070915 | 26 | G>R | No | gnomAD | |
| rs547614433 | 27 | T>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs780200482 | 28 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs758645078 | 29 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1485932291 | 30 | A>T | No |
TOPMed gnomAD |
|
| rs753799152 | 32 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs1206766667 | 32 | A>P | No |
TOPMed gnomAD |
|
| rs1206766667 | 32 | A>S | No |
TOPMed gnomAD |
|
| rs1206766667 | 32 | A>T | No |
TOPMed gnomAD |
|
| rs753799152 | 32 | A>V | No |
ExAC TOPMed gnomAD |
|
|
VAR_016149 rs20577 |
33 | T>I | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1039298084 | 34 | P>L | No | Ensembl | |
| rs1310201223 | 34 | P>T | No | gnomAD | |
| rs1386392174 | 35 | S>I | No | gnomAD | |
| rs141450536 | 35 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2128852799 | 36 | K>E | No | Ensembl | |
| rs549217117 | 37 | V>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs943381828 | 37 | V>M | No |
TOPMed gnomAD |
|
| rs759145262 | 38 | W>C | No |
ExAC gnomAD |
|
| TCGA novel | 39 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1337949373 | 39 | G>S | No | gnomAD | |
| rs530737531 | 40 | S>F | No |
1000Genomes ExAC gnomAD |
|
| rs1376251922 | 42 | A>T | No | gnomAD | |
| rs1428692131 | 44 | R>K | No | gnomAD | |
| rs770120254 | 45 | I>T | No |
ExAC gnomAD |
|
| rs987464553 | 45 | I>V | No |
TOPMed gnomAD |
|
| rs1205177072 | 47 | P>L | No | TOPMed | |
| rs777061458 | 48 | R>* | No |
ExAC gnomAD |
|
| rs777061458 | 48 | R>G | No |
ExAC gnomAD |
|
| rs768990607 | 48 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs768990607 | 48 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs2128852790 | 49 | G>D | No | 1000Genomes | |
| TCGA novel | 49 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1243733281 | 50 | G>A | No | gnomAD | |
| rs1243733281 | 50 | G>V | No | gnomAD | |
| rs1786993355 | 51 | G>S | No |
TOPMed gnomAD |
|
| rs370216458 | 52 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs370216458 | 52 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1482174117 | 52 | R>Q | No | gnomAD | |
| rs950875118 | 53 | G>A | No |
1000Genomes TOPMed gnomAD |
|
| rs950875118 | 53 | G>E | No |
1000Genomes TOPMed gnomAD |
|
| TCGA novel | 54 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1801318206 | 55 | L>F | No |
TOPMed gnomAD |
|
| rs1585291297 | 55 | L>H | No | Ensembl | |
| rs1331774815 | 56 | P>L | No | gnomAD | |
| rs1308234179 | 56 | P>T | No | gnomAD | |
| rs1801317884 | 57 | T>A | No | TOPMed | |
| rs1801317761 | 58 | S>F | No | gnomAD | |
| rs1394337255 | 59 | M>I | No |
TOPMed gnomAD |
|
| rs779334589 | 59 | M>K | No |
ExAC gnomAD |
|
| rs746067219 | 59 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs746067219 | 59 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs563273963 | 60 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1400542670 | 61 | Q>K | No | gnomAD | |
| rs753509370 | 61 | Q>L | No |
ExAC gnomAD |
|
| rs1406148061 | 62 | H>P | No | gnomAD | |
| rs763963313 | 62 | H>Q | No |
ExAC gnomAD |
|
| rs937701217 | 62 | H>Y | No |
TOPMed gnomAD |
|
| rs755952398 | 63 | G>* | No |
ExAC gnomAD |
|
| rs1801316873 | 63 | G>E | No | TOPMed | |
| rs755952398 | 63 | G>R | No |
ExAC gnomAD |
|
| rs1801316873 | 63 | G>V | No | TOPMed | |
| rs377094679 | 65 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs544790282 | 65 | S>N | No |
1000Genomes TOPMed gnomAD |
|
| rs544790282 | 65 | S>T | No |
1000Genomes TOPMed gnomAD |
|
| rs766979471 | 66 | A>D | No |
ExAC gnomAD |
|
| rs1294319313 | 66 | A>T | No |
TOPMed gnomAD |
|
| rs759093882 | 67 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs759093882 | 67 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1255227138 | 67 | R>W | No | gnomAD | |
| rs201726516 | 68 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1277097965 | 68 | A>V | No |
TOPMed gnomAD |
|
|
rs61756236 RCV000905321 |
69 | R>P | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs61756236 | 69 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1203249698 | 69 | R>W | No |
TOPMed gnomAD |
|
| rs1265456733 | 70 | A>G | No | Ensembl | |
|
COSM42996 rs1284805590 |
70 | A>T | central_nervous_system [Cosmic] | No |
cosmic curated gnomAD |
| rs762683526 | 71 | G>A | No |
ExAC gnomAD |
|
| rs776816522 | 72 | R>H | No |
ExAC gnomAD |
|
| rs1352687724 | 73 | A>P | No | gnomAD | |
| rs1352687724 | 73 | A>T | No | gnomAD | |
| rs1801315120 | 74 | P>A | No | TOPMed | |
| rs1801315120 | 74 | P>S | No | TOPMed | |
| rs769096409 | 75 | G>R | No |
ExAC gnomAD |
|
| rs113149248 | 76 | P>L | No | Ensembl | |
| rs113149248 | 76 | P>R | No | Ensembl | |
| TCGA novel | 76 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1801314995 | 76 | P>T | No | TOPMed | |
| rs1365677996 | 77 | R>T | No |
TOPMed gnomAD |
|
| rs776189185 | 78 | P>L | No |
ExAC gnomAD |
|
| rs772267982 | 79 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs772267982 | 79 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1182411403 | 80 | R>L | No |
TOPMed gnomAD |
|
| rs1182411403 | 80 | R>Q | No |
TOPMed gnomAD |
|
| rs1473474586 | 81 | E>K | No | gnomAD | |
| rs746009968 | 82 | A>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 82 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1180321338 | 83 | S>R | No |
TOPMed gnomAD |
|
| rs779136739 | 84 | P>A | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1801314003 | 84 | P>L | No | TOPMed | |
| rs1290686565 | 85 | R>G | No |
TOPMed gnomAD |
|
| rs1290686565 | 85 | R>W | No |
TOPMed gnomAD |
|
| rs1013888975 | 87 | R>P | No |
TOPMed gnomAD |
|
| rs1013888975 | 87 | R>Q | No |
TOPMed gnomAD |
|
| rs867574634 | 88 | V>F | No | Ensembl | |
| rs757496105 | 89 | H>R | No |
ExAC gnomAD |
|
| rs1352744090 | 90 | K>E | No | gnomAD | |
| rs1286790619 | 90 | K>R | No | gnomAD | |
| rs1408848054 | 91 | T>I | No |
TOPMed gnomAD |
|
| rs1408848054 | 91 | T>N | No |
TOPMed gnomAD |
|
| rs796702132 | 92 | F>I | No | gnomAD | |
| rs777387434 | 92 | F>L | No |
ExAC gnomAD |
|
| rs1384624344 | 92 | F>S | No |
TOPMed gnomAD |
|
| rs796702132 | 92 | F>V | No | gnomAD | |
| rs755974368 | 93 | K>* | No |
ExAC TOPMed gnomAD |
|
| rs755974368 | 93 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1801312742 | 93 | K>N | No | Ensembl | |
| rs752552572 | 94 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs754917977 | 96 | V>I | No |
ExAC gnomAD |
|
| rs1247568138 | 97 | V>A | No | gnomAD | |
| rs1028332865 | 97 | V>F | No | TOPMed | |
| rs1319112159 | 98 | G>A | No | TOPMed | |
|
rs765900944 COSM1098230 |
99 | V>F | endometrium [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs765900944 | 99 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs867085801 | 100 | L>M | No | TOPMed | |
| rs1000401382 | 102 | Q>E | No |
TOPMed gnomAD |
|
| rs904680412 | 102 | Q>P | No |
TOPMed gnomAD |
|
|
rs919638596 COSM454324 |
103 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1275952715 | 103 | V>D | No |
TOPMed gnomAD |
|
| rs765009914 | 103 | V>F | No |
ExAC gnomAD |
|
| rs765009914 | 103 | V>I | No |
ExAC gnomAD |
|
| rs765009914 | 103 | V>L | No |
ExAC gnomAD |
|
| rs1039881745 | 104 | V>I | No |
TOPMed gnomAD |
|
| rs1039881745 | 104 | V>L | No |
TOPMed gnomAD |
|
|
rs11986840 VAR_052350 |
105 | P>R | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1801102200 | 105 | P>S | No | TOPMed | |
| rs891392388 | 106 | S>G | No | Ensembl | |
| rs768012575 | 106 | S>N | No |
ExAC gnomAD |
|
| rs760076246 | 106 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs768012575 | 106 | S>T | No |
ExAC gnomAD |
|
| rs775037487 | 108 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs188027515 | 110 | T>A | No | 1000Genomes | |
| TCGA novel | 110 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs916154260 | 110 | T>N | No | TOPMed | |
| rs763149450 | 111 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs146723543 | 112 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| COSM285841 | 113 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs144035000 | 114 | H>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs144035000 | 114 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3647352 | 114 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768480167 | 115 | D>A | No |
ExAC TOPMed gnomAD |
|
| rs1485577162 | 115 | D>N | No | gnomAD | |
| rs768480167 | 115 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1485577162 | 115 | D>Y | No | gnomAD | |
| rs1801101429 | 116 | Q>K | No | TOPMed | |
| rs1801101377 | 116 | Q>P | No | Ensembl | |
| rs747581570 | 118 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs749884739 | 118 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs749884739 | 118 | I>T | No |
ExAC TOPMed gnomAD |
|
|
COSM1664612 rs747581570 |
118 | I>V | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA229119 rs483352726 RCV000087209 |
119 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1801101161 | 120 | T>P | No | gnomAD | |
| rs1350855586 | 121 | Q>R | No | gnomAD | |
| rs1801101094 | 122 | Q>L | No | Ensembl | |
| rs1308902523 | 123 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1274782284 | 123 | W>R | No | TOPMed | |
| rs778297501 | 125 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs765942519 | 125 | H>Y | No | Ensembl | |
| rs1563383750 | 127 | P>A | No | Ensembl | |
| TCGA novel | 127 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3647351 rs1021603055 |
129 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1204154199 | 130 | E>D | No |
TOPMed gnomAD |
|
| rs1169750241 | 130 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1169750241 | 130 | E>Q | No | gnomAD | |
| TCGA novel | 131 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM116893 rs1453147544 |
132 | C>F | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs980630596 | 133 | P>R | No | Ensembl | |
| rs200630980 | 133 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs767963299 | 134 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1222423688 | 135 | G>V | No |
TOPMed gnomAD |
|
| rs532556218 | 136 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1800951377 | 137 | H>P | No | gnomAD | |
| rs761943362 | 139 | S>* | No |
ExAC TOPMed gnomAD |
|
| rs1369847961 | 139 | S>P | No | gnomAD | |
| rs776832652 | 140 | E>D | No |
ExAC gnomAD |
|
| rs17620 | 141 | H>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs764237381 | 141 | H>N | No |
ExAC gnomAD |
|
|
VAR_016150 rs17620 |
141 | H>R | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs764237381 | 141 | H>Y | No |
ExAC gnomAD |
|
| COSM1098228 | 142 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1363547648 | 143 | G>R | No | gnomAD | |
| rs1048734971 | 143 | G>V | No | Ensembl | |
| rs771791120 | 144 | A>S | No |
ExAC gnomAD |
|
| rs771791120 | 144 | A>T | No |
ExAC gnomAD |
|
| rs1422451736 | 145 | C>G | No |
TOPMed gnomAD |
|
| rs1192537926 | 145 | C>Y | No | gnomAD | |
| rs774203881 | 146 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs201811491 | 146 | N>S | No | 1000Genomes | |
|
COSM73030 rs748872586 |
147 | R>Q | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs781552324 | 147 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1464298035 | 149 | T>I | No |
TOPMed gnomAD |
|
| rs777425041 | 152 | V>L | No |
ExAC gnomAD |
|
| rs777425041 | 152 | V>M | No |
ExAC gnomAD |
|
| rs532602797 | 156 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs532602797 | 156 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs2128848333 | 158 | S>C | No | Ensembl | |
| rs370841687 | 159 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs765804391 | 159 | N>K | No |
ExAC gnomAD |
|
| rs1300490312 | 159 | N>S | No |
TOPMed gnomAD |
|
| rs757768301 | 160 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs2128848324 | 160 | N>K | No | Ensembl | |
| rs753859820 | 160 | N>S | No |
ExAC gnomAD |
|
| TCGA novel | 160 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764178278 | 161 | L>F | No |
ExAC gnomAD |
|
| rs1800948918 | 162 | F>I | No | TOPMed | |
| rs1554522971 | 163 | A>V | No | TOPMed | |
| rs753609396 | 164 | C>F | No | Ensembl | |
| rs760843781 | 167 | C>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 168 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1449582199 | 170 | C>G | No | gnomAD | |
| rs1171311991 | 171 | K>R | No |
TOPMed gnomAD |
|
| TCGA novel | 172 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1032709564 | 173 | D>A | No |
TOPMed gnomAD |
|
| rs1461701679 | 173 | D>E | No |
1000Genomes gnomAD |
|
| rs1032709564 | 173 | D>G | No |
TOPMed gnomAD |
|
| rs1355268933 | 174 | E>* | No |
1000Genomes gnomAD |
|
| rs1195626844 | 175 | E>K | No | Ensembl | |
| rs1432884992 | 177 | R>I | No | Ensembl | |
| rs974859695 | 179 | P>L | No | TOPMed | |
| rs1800932865 | 179 | P>S | No | TOPMed | |
| rs1293002117 | 180 | C>* | No |
TOPMed gnomAD |
|
| TCGA novel | 180 | C>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1774568250 | 180 | C>G | No | Ensembl | |
| rs1293002117 | 180 | C>W | No |
TOPMed gnomAD |
|
| rs1464395890 | 180 | C>Y | No |
TOPMed gnomAD |
|
| rs1410060330 | 181 | T>I | No |
TOPMed gnomAD |
|
| rs1440979099 | 181 | T>P | No |
TOPMed gnomAD |
|
| rs761300539 | 182 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1164957687 | 183 | T>I | No | gnomAD | |
| rs1481649489 | 184 | R>G | No |
1000Genomes gnomAD |
|
| rs1416907003 | 184 | R>S | No |
TOPMed gnomAD |
|
| rs1800930865 | 185 | N>H | No | TOPMed | |
| rs1159722460 | 185 | N>K | No |
TOPMed gnomAD |
|
| rs2128848120 | 185 | N>S | No | Ensembl | |
| rs1250088732 | 187 | A>V | No |
1000Genomes gnomAD |
|
| rs1480108021 | 188 | C>R | No |
TOPMed gnomAD |
|
| rs1480108021 | 188 | C>S | No |
TOPMed gnomAD |
|
| rs1563379692 | 188 | C>Y | No | Ensembl | |
| rs1468889956 | 189 | Q>P | No |
TOPMed gnomAD |
|
| COSM1331061 | 190 | C>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1251467948 | 191 | K>E | No |
1000Genomes gnomAD |
|
| rs966126692 | 192 | P>R | No | TOPMed | |
| TCGA novel | 192 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3647349 | 193 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3699027 rs1179886430 |
194 | T>A | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1206079392 | 194 | T>N | No |
1000Genomes gnomAD |
|
| rs1206079392 | 194 | T>S | No |
1000Genomes gnomAD |
|
| rs377048930 | 195 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1437346875 | 195 | F>S | No | gnomAD | |
| TCGA novel | 195 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs150096329 | 196 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs746700261 | 196 | R>W | No |
1000Genomes ExAC gnomAD |
|
| rs1800929808 | 197 | N>K | No | Ensembl | |
| rs1040148065 | 197 | N>S | No |
TOPMed gnomAD |
|
| rs1419176521 | 198 | D>E | No | gnomAD | |
| rs771322440 | 198 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs749769267 | 199 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs778307119 | 199 | N>K | No |
ExAC gnomAD |
|
| rs538852484 | 199 | N>S | No |
TOPMed gnomAD |
|
| rs749769267 | 199 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs756213970 | 200 | S>A | No |
ExAC gnomAD |
|
| rs1347556811 | 200 | S>F | No |
TOPMed gnomAD |
|
| rs756213970 | 200 | S>T | No |
ExAC gnomAD |
|
| rs1304606685 | 201 | A>T | No |
1000Genomes gnomAD |
|
| rs1393722797 | 203 | M>I | No | gnomAD | |
| rs1216533498 | 203 | M>R | No | TOPMed | |
| rs1384563196 | 203 | M>V | No |
TOPMed gnomAD |
|
| rs1277396952 | 204 | C>G | No | TOPMed | |
| rs747279227 | 205 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs747279227 | 205 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs747279227 | 205 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs374099043 | 205 | R>W | No |
ESP ExAC gnomAD |
|
| rs1048355999 | 207 | C>* | No | Ensembl | |
| rs1005312028 | 208 | S>R | No |
TOPMed gnomAD |
|
| rs1800928886 | 209 | R>* | No | gnomAD | |
| rs20575 | 209 | R>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs20575 VAR_016151 |
209 | R>T | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs750382921 | 210 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs146469828 | 210 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs750382921 | 210 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs144093718 | 211 | C>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs747020496 | 211 | C>G | No |
ExAC TOPMed gnomAD |
|
| rs747020496 | 211 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs144093718 | 211 | C>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs778544744 | 213 | R>K | No |
ExAC gnomAD |
|
| rs1267828566 | 214 | G>R | No |
TOPMed gnomAD |
|
| rs1800899766 | 215 | M>K | No | TOPMed | |
| rs1195689118 | 216 | V>I | No | TOPMed | |
| rs1195689118 | 216 | V>L | No | TOPMed | |
| rs756047313 | 217 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs756047313 | 217 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs759147293 | 218 | V>D | No |
ExAC gnomAD |
|
| rs368869003 | 218 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs368869003 | 218 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1800899415 | 219 | K>N | No | TOPMed | |
| rs139265071 | 220 | D>G | No |
ESP ExAC |
|
| rs1800899359 | 220 | D>H | No | Ensembl | |
| rs762305247 | 221 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs1383505204 | 221 | C>Y | No | gnomAD | |
| rs776864330 | 222 | T>M | No |
ExAC gnomAD |
|
| rs776864330 | 222 | T>R | No |
ExAC gnomAD |
|
| rs1252080048 | 222 | T>S | No | gnomAD | |
| rs1585281057 | 223 | P>H | No | Ensembl | |
| rs1272253298 | 223 | P>S | No |
TOPMed gnomAD |
|
| rs1800898445 | 224 | W>* | No | Ensembl | |
| rs1228776087 | 224 | W>* | No |
TOPMed gnomAD |
|
| rs1800898568 | 224 | W>R | No | Ensembl | |
| rs890318367 | 226 | D>G | No | Ensembl | |
| rs1800898389 | 226 | D>N | No |
TOPMed gnomAD |
|
| rs1800898274 | 227 | I>N | No |
TOPMed gnomAD |
|
|
VAR_016152 rs20576 RCV001650796 |
228 | E>A | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs947332508 | 228 | E>K | No |
TOPMed gnomAD |
|
| rs1585281040 | 229 | C>F | No | Ensembl | |
| rs746051592 | 230 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs746051592 | 230 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs779251303 | 231 | H>Y | No |
ExAC gnomAD |
|
| rs1352800158 | 232 | K>E | No | gnomAD | |
| rs770623755 | 233 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs770623755 | 233 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs749042542 | 234 | S>L | No |
ExAC gnomAD |
|
| rs757991794 | 235 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs757991794 | 235 | G>R | No |
ExAC TOPMed gnomAD |
|
| COSM3899008 | 237 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1800895733 | 237 | G>R | No | Ensembl | |
| rs1032613329 | 240 | I>L | No | Ensembl | |
| rs1032613329 | 240 | I>V | No | Ensembl | |
| rs1251107941 | 241 | W>* | No |
TOPMed gnomAD |
|
| rs1585280977 | 241 | W>R | No | Ensembl | |
| rs2080914341 | 242 | V>A | No | Ensembl | |
| rs1212951373 | 242 | V>M | No | gnomAD | |
| rs754916329 | 243 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs781174206 | 243 | I>V | No |
ExAC gnomAD |
|
| rs1218223272 | 244 | L>F | No |
TOPMed gnomAD |
|
| rs142205454 | 246 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1800892627 | 247 | T>A | No | Ensembl | |
| rs569931307 | 247 | T>I | No | Ensembl | |
| rs779455620 | 248 | L>F | No |
ExAC TOPMed |
|
| rs1800892521 | 248 | L>S | No | Ensembl | |
| rs758031420 | 250 | V>F | No |
ExAC gnomAD |
|
| rs750087731 | 250 | V>G | No |
ExAC gnomAD |
|
| rs199946162 | 251 | P>L | No |
1000Genomes TOPMed gnomAD |
|
| rs199946162 | 251 | P>R | No |
1000Genomes TOPMed gnomAD |
|
| rs2128847713 | 252 | L>S | No | Ensembl | |
| rs1563378822 | 253 | L>P | No | gnomAD | |
| rs764534412 | 255 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs551720650 | 256 | A>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 256 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1459154042 | 259 | I>T | No |
TOPMed gnomAD |
|
| rs759972278 | 260 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs768067879 | 260 | V>I | No |
ExAC gnomAD |
|
| rs1436080140 | 261 | C>Y | No |
1000Genomes TOPMed gnomAD |
|
| rs2128847702 | 263 | C>F | No | Ensembl | |
| rs893127741 | 263 | C>S | No |
TOPMed gnomAD |
|
| rs1434088454 | 264 | I>N | No |
TOPMed gnomAD |
|
| rs148694938 | 265 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs148694938 | 265 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1469682728 | 266 | S>* | No | TOPMed | |
| COSM1456149 | 267 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2128847552 | 269 | G>E | No | Ensembl | |
| rs2128847553 | 269 | G>R | No | Ensembl | |
| rs765387201 | 270 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs762045833 | 271 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1800883209 | 271 | D>N | No | Ensembl | |
| rs1800883126 | 272 | P>H | No | gnomAD | |
| rs372997171 | 274 | C>* | No | Ensembl | |
| rs1052528418 | 274 | C>G | No |
TOPMed gnomAD |
|
| rs1052528418 | 274 | C>R | No |
TOPMed gnomAD |
|
| rs1052528418 | 274 | C>S | No |
TOPMed gnomAD |
|
| rs935118489 | 275 | M>L | No | Ensembl | |
| rs1475145948 | 276 | D>V | No | TOPMed | |
| rs868139712 | 277 | R>K | No | Ensembl | |
| rs201888775 | 279 | C>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1404583069 | 280 | F>S | No | Ensembl | |
| rs1563378296 | 281 | W>* | No | Ensembl | |
|
rs759566687 COSM1229865 |
282 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs144670447 | 282 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs144670447 | 282 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs144670447 | 282 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs759566687 | 282 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs770604411 | 283 | L>W | No |
ExAC gnomAD |
|
| rs967940020 | 284 | G>C | No |
TOPMed gnomAD |
|
| rs1800874179 | 284 | G>D | No | TOPMed | |
| rs143030810 | 285 | L>H | No |
ESP TOPMed gnomAD |
|
| rs748925595 | 285 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs140805563 | 287 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs147260925 COSM3716004 |
287 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1800873765 | 288 | G>A | No | TOPMed | |
|
COSM1132783 rs1286942241 |
288 | G>W | prostate [Cosmic] | No |
cosmic curated TOPMed |
| rs371707881 | 289 | P>S | No |
ESP TOPMed |
|
| rs1371044304 | 290 | G>E | No |
TOPMed gnomAD |
|
| rs545557158 | 290 | G>R | No |
1000Genomes ExAC gnomAD |
|
| rs758863344 | 291 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs758863344 | 291 | A>S | No |
ExAC TOPMed gnomAD |
|
| COSM1313938 | 292 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1800873477 | 293 | D>E | No | gnomAD | |
| rs1029827183 | 293 | D>Y | No | TOPMed | |
| rs1438552949 | 294 | N>D | No | gnomAD | |
| rs1800873411 | 295 | A>V | No | TOPMed | |
|
VAR_052351 RCV000904661 rs17088980 |
297 | N>H | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs149391935 | 297 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs778944773 | 297 | N>S | No |
ExAC TOPMed gnomAD |
|
|
COSM1313937 rs1157011669 |
298 | E>D | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs1475450203 | 298 | E>G | No | gnomAD | |
| rs754090248 | 298 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs754090248 | 298 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs764151190 | 299 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1395713855 | 300 | L>V | No | gnomAD | |
| rs2230230 | 302 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1252914919 | 302 | N>S | No | gnomAD | |
| rs752383148 | 302 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs568615397 | 303 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs1259272688 | 303 | A>V | No | gnomAD | |
| rs1398822596 | 304 | D>E | No |
TOPMed gnomAD |
|
|
rs774477255 COSM379450 |
305 | S>L | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1269362509 | 307 | S>F | No | gnomAD | |
| rs1223445733 | 308 | T>S | No | gnomAD | |
| rs571095882 | 310 | V>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs571095882 | 310 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs775689137 | 312 | E>* | No |
ExAC gnomAD |
|
| COSM1456148 | 312 | E>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772476321 | 313 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1281565910 | 314 | Q>* | No |
TOPMed gnomAD |
|
| rs376605159 | 314 | Q>H | No |
ExAC TOPMed gnomAD |
|
| COSM3647347 | 315 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779466374 | 315 | M>L | No |
ExAC gnomAD |
|
| rs1376148352 | 315 | M>R | No | gnomAD | |
| rs757770093 | 317 | S>R | No |
ExAC gnomAD |
|
| rs143024890 | 319 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs140933025 | 320 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs753001021 | 321 | A>E | No |
ExAC gnomAD |
|
| rs1800871303 | 321 | A>S | No | TOPMed | |
| rs753001021 | 321 | A>V | No |
ExAC gnomAD |
|
| COSM296340 | 323 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1800871219 | 323 | L>S | No | TOPMed | |
| rs754876381 | 326 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs140844059 | 326 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs751536683 | 327 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1208172796 | 328 | V>I | No | gnomAD | |
| rs1208172796 | 328 | V>L | No | gnomAD | |
| rs1800870992 | 329 | Q>K | No | TOPMed | |
| rs1485043126 | 329 | Q>R | No | gnomAD | |
| rs762970156 | 330 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs762970156 | 330 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs1204795744 | 331 | P>L | No |
TOPMed gnomAD |
|
| rs867850295 | 331 | P>S | No | Ensembl | |
| rs934760540 | 332 | G>E | No | TOPMed | |
| rs371257093 | 335 | Q>K | No |
ESP ExAC gnomAD |
|
| COSM4751197 | 335 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1471505650 | 336 | C>R | No |
TOPMed gnomAD |
|
| rs1269304757 | 336 | C>Y | No | gnomAD | |
| TCGA novel | 338 | L>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1800834959 | 339 | G>E | No | Ensembl | |
| rs1800834998 | 339 | G>R | No | TOPMed | |
| rs761455585 | 340 | P>A | No |
ExAC gnomAD |
|
| rs138069770 | 340 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs138069770 | 340 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs867366316 | 341 | A>T | No | Ensembl | |
| COSM4822759 | 342 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 344 | E>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 345 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs372908951 | 345 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs996749584 | 347 | Q>* | No | gnomAD | |
| rs773826012 | 348 | R>S | No |
ExAC gnomAD |
|
| rs1800834407 | 348 | R>T | No | TOPMed | |
| rs1212836066 | 349 | R>K | No | gnomAD | |
| rs1563377428 | 350 | R>G | No | Ensembl | |
| rs1321411911 | 351 | L>P | No | gnomAD | |
| rs1321411911 | 351 | L>Q | No | gnomAD | |
| rs769757963 | 353 | V>F | No |
ExAC gnomAD |
|
| rs769757963 | 353 | V>I | No |
ExAC gnomAD |
|
| rs969849531 | 354 | P>L | No | TOPMed | |
| rs2128846908 | 354 | P>S | No | Ensembl | |
| rs1800834028 | 355 | A>E | No | TOPMed | |
| rs900633872 | 357 | G>C | No |
TOPMed gnomAD |
|
| rs145301693 | 357 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs145301693 | 357 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs747276115 | 359 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1800833746 | 359 | D>N | No | gnomAD | |
| rs944972444 | 360 | P>A | No | gnomAD | |
| rs758274362 | 361 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1345469022 | 361 | T>S | No | gnomAD | |
| rs140442292 | 362 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1188506490 | 363 | T>S | No | gnomAD | |
| rs1262723798 | 365 | M>I | No |
TOPMed gnomAD |
|
| rs1378605649 | 366 | L>Q | No | gnomAD | |
| rs774657921 | 367 | F>L | No | gnomAD | |
| rs757174389 | 368 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1800762127 | 369 | D>N | No | TOPMed | |
| rs1278850778 | 370 | K>T | No |
TOPMed gnomAD |
|
| rs1469234008 | 372 | A>E | No | Ensembl | |
| rs1426873081 | 372 | A>T | No | Ensembl | |
| rs527294295 | 374 | I>F | No | Ensembl | |
| rs145547481 | 374 | I>M | No |
1000Genomes ESP ExAC TOPMed |
|
| rs777239727 | 375 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs777239727 | 375 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1800761773 | 376 | P>L | No | gnomAD | |
| rs755677009 | 376 | P>S | No |
ExAC TOPMed gnomAD |
|
| COSM3779145 | 378 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750750207 | 379 | S>F | No |
ExAC gnomAD |
|
| rs373540814 | 379 | S>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs373540814 | 379 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2128845868 | 380 | W>R | No | Ensembl | |
| rs1297649662 | 381 | D>E | No | TOPMed | |
| rs1373051218 | 381 | D>N | No |
TOPMed gnomAD |
|
| rs376760379 | 382 | Q>R | No |
ESP ExAC gnomAD |
|
| rs777336876 | 384 | M>K | No |
ExAC gnomAD |
|
| rs1800761377 | 384 | M>V | No | TOPMed | |
| rs1346420423 | 387 | L>P | No | Ensembl | |
| rs1477359136 | 388 | D>V | No |
TOPMed gnomAD |
|
| rs760773242 | 390 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs760773242 | 390 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs762008162 | 392 | N>I | No | Ensembl | |
| COSM5216508 | 392 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1800761010 | 393 | E>* | No | Ensembl | |
| COSM750052 | 393 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs370495260 | 395 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs370495260 | 395 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs777752383 | 396 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs894249507 | 398 | R>I | No | TOPMed | |
| rs894249507 | 398 | R>T | No | TOPMed | |
| rs780590308 | 399 | A>G | No |
ExAC TOPMed gnomAD |
|
|
COSM4405710 rs747598220 |
399 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs780590308 | 399 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs765619769 | 400 | G>A | No | ExAC | |
| rs139611685 | 400 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs139611685 | 400 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1234687603 | 401 | T>S | No | gnomAD | |
| rs757760639 | 402 | A>V | No |
ExAC gnomAD |
|
| rs1800760376 | 403 | G>S | No | gnomAD | |
| rs1800760325 | 403 | G>V | No |
TOPMed gnomAD |
|
| rs761282779 | 405 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1169854819 | 405 | G>R | No |
TOPMed gnomAD |
|
| rs761282779 | 405 | G>V | No |
ExAC TOPMed gnomAD |
|
| COSM5874395 | 406 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1800760070 | 406 | D>V | No | TOPMed | |
| rs372471885 | 407 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1800759988 | 407 | A>V | No | Ensembl | |
| rs1446881047 | 411 | M>I | No |
TOPMed gnomAD |
|
| rs181796380 | 411 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs767538728 | 411 | M>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 412 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1272251361 | 413 | M>I | No |
TOPMed gnomAD |
|
| rs893156636 | 414 | K>N | No |
TOPMed gnomAD |
|
| rs2128845836 | 414 | K>R | No | Ensembl | |
| rs1800759606 | 415 | W>* | No | TOPMed | |
| rs150893670 | 415 | W>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs150893670 | 415 | W>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1214440201 | 415 | W>R | No | TOPMed | |
| rs1186995235 | 416 | V>F | No | gnomAD | |
| rs749016937 | 418 | K>N | No |
ExAC gnomAD |
|
| rs2128845831 | 419 | T>P | No | Ensembl | |
| rs1274131618 | 420 | G>E | No | gnomAD | |
| rs769671166 | 421 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs773006381 | 421 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs370223307 | 422 | N>D | No |
ESP ExAC gnomAD |
|
| rs917977726 | 423 | A>P | No |
TOPMed gnomAD |
|
| rs917977726 | 423 | A>T | No |
TOPMed gnomAD |
|
| rs1474393135 | 423 | A>V | No |
TOPMed gnomAD |
|
| rs145301145 | 424 | S>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1445882171 | 424 | S>A | No | gnomAD | |
| rs145301145 | 424 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1445882171 | 424 | S>T | No | gnomAD | |
| rs145301145 | 424 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1327739148 | 425 | I>F | No |
TOPMed gnomAD |
|
| rs1327739148 | 425 | I>L | No |
TOPMed gnomAD |
|
| rs1327739148 | 425 | I>V | No |
TOPMed gnomAD |
|
| rs1438415244 | 426 | H>Y | No | gnomAD | |
| rs373461559 | 428 | L>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1800758177 | 428 | L>V | No | Ensembl | |
| rs113162538 | 430 | D>N | No |
ExAC gnomAD |
|
| rs1365555146 | 431 | A>V | No | gnomAD | |
| rs925466703 | 432 | L>W | No | gnomAD | |
| rs1385591726 | 434 | R>K | No | TOPMed | |
| rs767624370 | 434 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1247587405 | 435 | M>T | No |
TOPMed gnomAD |
|
| rs951342269 | 436 | E>Q | No | Ensembl | |
| rs751666555 | 437 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs759604436 | 437 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1266267888 | 437 | E>K | No |
TOPMed gnomAD |
|
| rs1266267888 | 437 | E>Q | No |
TOPMed gnomAD |
|
| rs1283179595 | 438 | R>K | No | gnomAD | |
| rs770829928 | 439 | H>D | No | Ensembl | |
| rs770829928 | 439 | H>N | No | Ensembl | |
| rs1028788152 | 439 | H>Q | No | TOPMed | |
| rs766531884 | 440 | A>E | No |
ExAC gnomAD |
|
|
VAR_052352 rs2230229 |
441 | R>K | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2230229 | 441 | R>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs769626240 | 442 | E>* | No |
ExAC gnomAD |
|
| rs769626240 | 442 | E>Q | No |
ExAC gnomAD |
|
| COSM1456146 | 443 | K>D | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761796662 | 444 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs776497469 | 445 | Q>E | No |
ExAC gnomAD |
|
| rs776497469 | 445 | Q>K | No |
ExAC gnomAD |
|
| rs1286087174 | 446 | D>G | No | TOPMed | |
| rs1387404935 | 446 | D>Y | No | gnomAD | |
| rs1296491977 | 447 | L>F | No | gnomAD | |
| rs1800756684 | 447 | L>R | No | gnomAD | |
| rs746443958 | 448 | L>W | No |
ExAC TOPMed gnomAD |
|
| rs1585277411 | 449 | V>A | No | Ensembl | |
| rs1800756566 | 449 | V>L | No | TOPMed | |
| rs1800756566 | 449 | V>M | No | TOPMed | |
| rs1477258393 | 451 | S>P | No | gnomAD | |
| rs1193461204 | 452 | G>A | No | gnomAD | |
|
TCGA novel rs529697740 |
454 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
| rs1800756294 | 454 | F>Y | No | Ensembl | |
| rs745551949 | 455 | I>S | No |
ExAC gnomAD |
|
| rs753246257 | 456 | Y>* | No |
ExAC gnomAD |
|
| rs756496830 | 456 | Y>C | No |
ExAC gnomAD |
|
| rs756496830 | 456 | Y>F | No |
ExAC gnomAD |
|
| rs1800756068 | 457 | L>F | No | TOPMed | |
| rs755524669 | 457 | L>S | No |
ExAC TOPMed gnomAD |
|
| COSM4400419 | 457 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1800756038 | 458 | E>K | No | TOPMed | |
| rs1800755995 | 459 | D>E | No | TOPMed | |
| rs1800755960 | 460 | G>D | No | TOPMed | |
| rs1462568337 | 461 | T>I | No |
TOPMed gnomAD |
|
| rs200464740 | 462 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200464740 | 462 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3647341 rs375542409 |
462 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs200464740 | 462 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1800755723 | 464 | A>D | No | TOPMed | |
| rs1470639962 | 464 | A>S | No |
TOPMed gnomAD |
|
| rs761447580 | 465 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs761447580 | 465 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000966201 rs144773234 |
469 | E>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2128845764 | 469 | E>R | No | Ensembl |
No associated diseases with O00220
5 regional properties for O00220
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Death domain | 354 - 448 | IPR000488 |
| domain | TNFR/NGFR cysteine-rich region | 147 - 188 | IPR001368-1 |
| domain | TNFR/NGFR cysteine-rich region | 189 - 229 | IPR001368-2 |
| domain | Tumor necrosis factor receptor 10, N-terminal | 129 - 230 | IPR034024 |
| domain | Tumour necrosis factor receptor 10A/B, death domain | 367 - 454 | IPR034029 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| death receptor activity | Combining with an extracellular messenger (called a death ligand), and transmitting the signal from one side of the plasma membrane to the other to initiate apoptotic or necrotic cell death. |
| identical protein binding | Binding to an identical protein or proteins. |
| protease binding | Binding to a protease or a peptidase. |
| 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. |
8 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. |
| 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. |
| extrinsic apoptotic signaling pathway | 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 either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered. |
| 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. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| 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 |
|---|---|---|---|---|
| O14798 | TNFRSF10C | Tumor necrosis factor receptor superfamily member 10C | Homo sapiens (Human) | PR |
| Q9UBN6 | TNFRSF10D | Tumor necrosis factor receptor superfamily member 10D | Homo sapiens (Human) | PR |
| O14763 | TNFRSF10B | Tumor necrosis factor receptor superfamily member 10B | Homo sapiens (Human) | EV |
| Q9QZM4 | Tnfrsf10b | Tumor necrosis factor receptor superfamily member 10B | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPPPARVHL | GAFLAVTPNP | GSAASGTEAA | AATPSKVWGS | SAGRIEPRGG | GRGALPTSMG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QHGPSARARA | GRAPGPRPAR | EASPRLRVHK | TFKFVVVGVL | LQVVPSSAAT | IKLHDQSIGT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QQWEHSPLGE | LCPPGSHRSE | HPGACNRCTE | GVGYTNASNN | LFACLPCTAC | KSDEEERSPC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TTTRNTACQC | KPGTFRNDNS | AEMCRKCSRG | CPRGMVKVKD | CTPWSDIECV | HKESGNGHNI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WVILVVTLVV | PLLLVAVLIV | CCCIGSGCGG | DPKCMDRVCF | WRLGLLRGPG | AEDNAHNEIL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SNADSLSTFV | SEQQMESQEP | ADLTGVTVQS | PGEAQCLLGP | AEAEGSQRRR | LLVPANGADP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TETLMLFFDK | FANIVPFDSW | DQLMRQLDLT | KNEIDVVRAG | TAGPGDALYA | MLMKWVNKTG |
| 430 | 440 | 450 | 460 | ||
| RNASIHTLLD | ALERMEERHA | REKIQDLLVD | SGKFIYLEDG | TGSAVSLE |