Q9UBN6
PR
Gene name |
TNFRSF10D |
Protein name |
Tumor necrosis factor receptor superfamily member 10D |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8793 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9UBN6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBN6-F1 | Predicted | AlphaFoldDB |
397 variants for Q9UBN6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA370581709 rs1258691062 |
2 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760503905 CA4674511 |
3 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA370581673 rs1233420435 |
4 | W>* | No |
ClinGen gnomAD |
|
|
rs759052810 CA4674508 |
4 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs562406294 CA370581678 |
4 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562406294 CA4674509 |
4 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 5 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370581616 rs1343523850 |
6 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1237272110 CA370581592 |
7 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA370581576 rs1296634977 |
8 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1214092248 CA370581580 |
8 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370581568 rs1461588219 |
9 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4674506 rs770443876 |
10 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA370581558 rs1355206442 |
10 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA173954463 rs945801484 |
11 | A>T | No |
ClinGen Ensembl |
|
|
rs1585268478 CA370581536 |
12 | S>A | No |
ClinGen Ensembl |
|
|
CA4674505 rs192763842 |
12 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192763842 CA370581528 |
12 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747510280 CA4674502 |
13 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA370581483 rs542268675 |
14 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA173954381 rs542268675 |
14 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1331160112 CA370581471 |
14 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780472613 CA4674500 |
15 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674499 rs758918421 |
15 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA370581462 rs758918421 |
15 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA370581441 rs1404268731 |
16 | A>E | No |
ClinGen gnomAD |
|
|
CA173954351 rs745897956 |
16 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674498 rs745897956 |
16 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA173954328 rs373857887 |
17 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4674496 rs73671020 |
18 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1024113796 CA173954326 |
18 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370581387 rs1024113796 |
18 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA370581367 rs1194081667 |
19 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA173954320 rs189314147 |
23 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA370581285 rs1441759510 |
24 | T>I | No |
ClinGen TOPMed |
|
|
CA4674494 rs754135160 |
25 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4674492 rs756043102 |
27 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674493 rs763788001 |
27 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370581249 rs1585268430 |
28 | T>S | No |
ClinGen Ensembl |
|
|
rs1309128924 CA370581223 |
30 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767507125 CA4674490 |
31 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370581220 rs752548144 CA4674491 |
31 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1098227 rs574854967 CA4674489 |
32 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs773960370 CA4674488 |
32 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1299564259 CA370581193 |
33 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4674487 rs765955140 |
34 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_011417 rs11135703 CA4674486 |
35 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4674485 rs772983710 |
36 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1422711436 CA370581149 |
37 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA370581146 rs867990441 |
37 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA173954224 rs867990441 |
37 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1422711436 CA370581150 |
37 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370581125 rs1264139019 |
39 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1218937552 CA370581113 |
39 | K>N | No |
ClinGen gnomAD |
|
|
rs769336025 CA4674484 |
40 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212155628 CA370581096 |
41 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4674482 rs775853874 |
42 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA370581088 rs775853874 |
42 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA173954186 rs907857125 CA370581069 |
43 | F>L | No |
ClinGen gnomAD |
|
|
rs751990373 CA4674480 |
44 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370581060 rs1362283327 |
44 | I>S | No |
ClinGen gnomAD |
|
|
CA4674481 rs772525196 |
44 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1458290853 CA370581059 |
45 | V>I | No |
ClinGen TOPMed |
|
|
rs771096648 CA370581043 |
46 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4674478 rs771096648 |
46 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 50 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs891719852 CA173954115 |
50 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs891719852 CA370581005 |
50 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4674449 rs372726522 |
52 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4674450 rs749907430 |
52 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391835424 CA370578372 |
53 | V>A | No |
ClinGen gnomAD |
|
|
rs367742530 CA4674448 |
54 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370578369 rs1379022722 |
54 | D>H | No |
ClinGen gnomAD |
|
|
rs143066323 CA4674447 |
55 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370578318 rs1164009524 |
58 | I>F | No |
ClinGen gnomAD |
|
|
CA370578305 rs1459531779 |
58 | I>M | No |
ClinGen gnomAD |
|
|
CA173945112 rs540501775 |
60 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200139123 CA4674444 |
60 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs200139123 CA370578284 |
60 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA4674443 rs200139123 COSM1098226 |
60 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed |
|
CA4674445 rs540501775 |
60 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771423286 CA4674441 |
61 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA173945097 rs192105467 |
62 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674439 rs372306502 |
63 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370578221 rs1384102414 |
64 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4674438 rs770050420 |
64 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370578213 rs1267634703 |
65 | P>A | No |
ClinGen gnomAD |
|
|
rs748367865 CA4674437 |
67 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA173945082 rs940161380 |
68 | T>R | No |
ClinGen Ensembl |
|
|
CA4674436 rs137870102 |
69 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1204398949 CA370578093 |
73 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4674433 rs370832356 |
74 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370832356 CA370578074 |
74 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs954904887 CA173945045 |
75 | R>K | No |
ClinGen TOPMed |
|
|
rs758323609 CA4674432 |
75 | R>S | No |
ClinGen ExAC |
|
|
rs745839219 CA4674430 |
76 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674429 rs199892568 |
76 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4674428 rs199892568 |
76 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4674427 rs753347358 |
79 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs758792877 CA173944986 |
80 | E>G | No |
ClinGen gnomAD |
|
|
rs763682896 CA4674425 |
80 | E>K | No |
ClinGen ExAC |
|
|
rs763682896 CA4674426 |
80 | E>Q | No |
ClinGen ExAC |
|
|
rs1358950397 CA370577935 |
81 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4674422 rs755747450 |
82 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA370577907 rs1284862247 |
82 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA370577904 rs1284862247 |
82 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1363035091 CA370577878 |
83 | C>R | No |
ClinGen gnomAD |
|
|
rs772093641 CA173944968 |
84 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762279091 CA173944951 |
85 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1165993390 CA370577851 |
85 | A>T | No |
ClinGen TOPMed |
|
|
rs1325267013 CA370577831 |
86 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1265107099 CA370575302 |
87 | S>C | No |
ClinGen gnomAD |
|
|
CA4674401 rs538045177 |
88 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765790537 CA4674400 |
89 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1359924663 CA370575245 |
90 | S>* | No |
ClinGen TOPMed |
|
|
CA370575252 rs1316330817 |
90 | S>P | No |
ClinGen TOPMed |
|
|
CA370575218 rs1198545388 |
92 | Y>H | No |
ClinGen gnomAD |
|
|
rs1314983419 CA370575160 |
95 | A>T | No |
ClinGen TOPMed |
|
|
CA370575153 rs1343964977 |
95 | A>V | No |
ClinGen gnomAD |
|
|
CA4674399 rs140280307 |
98 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674398 rs140280307 |
98 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281566780 CA370575084 |
101 | E>G | No |
ClinGen TOPMed |
|
|
rs1430082971 CA370575077 |
102 | G>S | No |
ClinGen gnomAD |
|
|
CA370575049 rs1487659703 |
104 | D>V | No |
ClinGen TOPMed |
|
|
CA4674395 rs775638496 |
106 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674393 rs762157620 |
107 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674394 rs762157620 |
107 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674390 rs749266965 |
108 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs749266965 CA4674391 |
108 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777316749 CA4674389 |
111 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375229957 CA4674388 |
117 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471131783 CA370574904 |
117 | L>V | No |
ClinGen TOPMed |
|
|
rs747834404 CA4674387 |
118 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1435406107 CA370574874 |
120 | V>L | No |
ClinGen TOPMed |
|
|
CA4674384 rs750775562 |
122 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs754680595 CA4674385 |
122 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674359 rs767677606 |
125 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4674358 rs759735995 |
126 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA370573576 rs1160334705 |
128 | K>R | No |
ClinGen gnomAD |
|
|
CA4674356 rs201641657 |
129 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4674355 rs201641657 |
129 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773075355 CA4674354 |
133 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773075355 CA370573481 |
133 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775981765 CA4674351 |
136 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4674350 rs377557941 |
137 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173938688 rs377557941 |
137 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs193201133 CA4674348 |
138 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778234619 CA4674345 |
140 | Q>H | No |
ClinGen ExAC |
|
|
CA4674346 rs749563942 |
140 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs373816574 CA173938675 |
144 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748742435 CA4674343 |
144 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs373816574 CA4674342 |
144 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs948771704 CA173938674 |
145 | S>N | No |
ClinGen TOPMed |
|
|
rs895864489 CA173938673 |
147 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 148 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4674341 rs755119313 |
148 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs554166185 CA370573201 |
151 | S>F | No |
ClinGen gnomAD |
|
|
rs554166185 CA173938672 |
151 | S>Y | No |
ClinGen gnomAD |
|
|
rs1585260386 CA370573187 |
152 | P>L | No |
ClinGen Ensembl |
|
|
CA370573194 rs1344521665 |
152 | P>S | No |
ClinGen gnomAD |
|
|
COSM1313936 CA4674337 rs750153116 |
156 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs553231612 COSM247921 CA4674338 |
156 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA370573098 rs149074636 |
157 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674336 rs149074636 |
157 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1294764232 CA370573050 |
160 | T>A | No |
ClinGen TOPMed |
|
|
rs764127729 CA370573028 |
161 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776697053 CA4674334 |
161 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs764127729 CA4674333 |
161 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674302 rs539259219 |
163 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4674301 rs747563213 |
165 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4674300 rs780093418 |
166 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4674299 rs565757862 |
167 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757439335 CA4674296 |
168 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs757439335 CA4674297 |
168 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777747805 CA4674294 |
169 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674295 rs753644719 |
169 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183397623 CA370572205 |
170 | S>N | No |
ClinGen gnomAD |
|
|
CA4674293 rs756101376 |
171 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752742454 CA4674292 |
172 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4674291 rs766935826 |
173 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674290 rs542233972 |
173 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61755333 CA4674288 |
174 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674285 rs61755334 |
175 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111569580 CA4674286 |
175 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 177 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370572031 rs267601856 |
178 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs267601856 CA370572034 |
178 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs267601856 CA173938111 |
178 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs148606999 CA4674284 |
179 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1008369273 CA173938099 |
179 | K>T | No |
ClinGen TOPMed |
|
|
COSM3698713 CA370571991 rs1396025366 |
181 | K>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs772466942 CA4674282 |
182 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs745909066 CA4674281 |
183 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674280 rs778888071 |
183 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 184 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4674279 rs114914813 |
185 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674278 rs564770894 |
186 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs1382622867 CA370571872 |
187 | S>G | No |
ClinGen gnomAD |
|
|
CA370571850 rs1563356817 |
188 | S>Y | No |
ClinGen Ensembl |
|
|
CA4674276 rs756043189 |
189 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 191 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336764809 CA370571783 |
192 | T>I | No |
ClinGen TOPMed |
|
|
CA370571792 rs1585259815 |
192 | T>P | No |
ClinGen Ensembl |
|
|
rs776245379 CA4674274 |
193 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951825219 CA173938060 |
194 | A>G | No |
ClinGen gnomAD |
|
|
CA173938062 rs983564669 |
194 | A>T | No |
ClinGen Ensembl |
|
|
CA370571754 rs951825219 |
194 | A>V | No |
ClinGen gnomAD |
|
|
rs373897075 CA4674273 |
195 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4674271 rs34866525 |
199 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868820587 CA173938032 |
199 | V>M | No |
ClinGen Ensembl |
|
|
rs1258804980 CA370571663 |
200 | T>I | No |
ClinGen gnomAD |
|
|
CA4674269 rs750141413 |
201 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA370571624 rs780408761 |
204 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA173938022 rs780408761 |
204 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA173938009 CA370571609 rs772328300 |
205 | M>I | No |
ClinGen Ensembl |
|
|
CA370571621 rs1447204602 |
205 | M>V | No |
ClinGen gnomAD |
|
|
rs1265046750 CA370571582 |
207 | A>V | No |
ClinGen TOPMed |
|
|
CA370571572 rs199848212 |
208 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199848212 CA370571569 |
208 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4674267 rs199848212 |
208 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370571561 rs865789884 |
209 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA173937998 rs865789884 |
209 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs35213435 CA4674266 |
209 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674263 rs563016426 |
210 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674264 rs563016426 |
210 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674265 rs775736173 |
210 | Y>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560616416 CA4674262 |
211 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749519646 CA4674260 |
212 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585259752 CA370571490 |
216 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 219 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370571466 rs1489260950 |
219 | L>F | No |
ClinGen gnomAD |
|
|
CA370571460 rs1585259747 |
220 | V>A | No |
ClinGen Ensembl |
|
|
CA4674259 rs773504465 |
222 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370571444 rs1204368574 |
223 | L>V | No |
ClinGen gnomAD |
|
|
rs373655628 CA173937975 |
227 | V>M | No |
ClinGen ESP |
|
|
rs201357503 CA4674257 |
228 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139303833 CA4674256 |
229 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150861587 CA4674255 |
230 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4674254 rs115978162 |
231 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746975246 CA4674253 |
232 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs202212786 CA4674251 |
233 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4674250 rs202212786 |
233 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4674252 rs779610293 |
233 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403276015 CA370571365 |
236 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA370571349 rs1199876736 |
238 | S>C | No |
ClinGen TOPMed |
|
|
rs756930266 CA4674248 |
241 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs557671638 CA173937960 |
242 | G>D | No |
ClinGen 1000Genomes |
|
|
CA4674247 rs370508033 |
243 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4674245 rs539617136 |
244 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1251511565 CA370571313 |
244 | C>G | No |
ClinGen TOPMed |
|
|
rs1371277526 CA370571309 |
244 | C>W | No |
ClinGen gnomAD |
|
|
rs565765139 CA173937947 |
245 | S>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA370571304 rs565765139 |
245 | S>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1054330580 CA173937636 |
247 | G>S | No |
ClinGen TOPMed |
|
|
CA4674225 rs763585528 |
248 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200819178 CA4674224 |
249 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765459445 CA4674223 |
250 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1449052294 CA370571194 |
251 | P>L | No |
ClinGen TOPMed |
|
|
rs1405402620 CA370571203 |
251 | P>S | No |
ClinGen gnomAD |
|
|
CA370571174 rs1428437992 |
252 | E>D | No |
ClinGen gnomAD |
|
|
rs560938180 CA4674221 |
253 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768935072 CA4674220 |
253 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs775291562 CA4674218 |
254 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs771962197 CA4674217 |
255 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA370571109 rs1452206335 |
256 | R>T | No |
ClinGen gnomAD |
|
|
rs760367788 CA173937425 |
258 | L>H | No |
ClinGen Ensembl |
|
|
CA370570950 rs1219516433 |
258 | L>I | No |
ClinGen gnomAD |
|
|
rs758767423 CA4674191 |
260 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA370570912 rs1280866907 |
260 | R>W | No |
ClinGen gnomAD |
|
|
rs61755335 CA4674189 |
261 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146130660 CA4674190 |
261 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4674188 rs771438459 |
262 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4674187 rs753830401 |
262 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334546155 CA370570896 |
263 | S>L | No |
ClinGen gnomAD |
|
|
CA4674186 rs764283243 |
264 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA4674185 rs78332874 |
265 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752982831 CA4674184 |
267 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4674182 rs191751553 |
267 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4674183 rs191751553 |
267 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749749418 CA4674180 |
269 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455645245 CA370570864 |
270 | G>R | No |
ClinGen TOPMed |
|
|
CA4674178 rs149257537 |
271 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747801021 CA4674176 |
272 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA370570846 rs1340453068 |
273 | D>Y | No |
ClinGen TOPMed |
|
|
CA173937347 rs1025226047 |
274 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs143212880 CA4674173 |
276 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_061854 rs55636833 CA4674172 |
276 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757683046 CA4674171 |
277 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs777709638 CA4674169 |
278 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168372272 CA370570802 |
279 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899511539 CA173937316 |
286 | Q>R | No |
ClinGen Ensembl |
|
|
CA4674164 rs751324527 |
287 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055219717 CA370570729 |
290 | V>A | No |
ClinGen TOPMed |
|
|
rs1055219717 CA173937312 |
290 | V>D | No |
ClinGen TOPMed |
|
|
CA4674163 RCV000956572 rs116710124 |
291 | S>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1419387823 CA370570720 |
292 | E>* | No |
ClinGen gnomAD |
|
|
rs1419387823 CA370570722 |
292 | E>K | No |
ClinGen gnomAD |
|
|
rs1419387823 CA370570721 |
292 | E>Q | No |
ClinGen gnomAD |
|
|
rs1184627614 CA370570719 |
292 | E>V | No |
ClinGen gnomAD |
|
|
CA370570713 rs1446776629 |
293 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370570709 rs1240905803 |
293 | Q>L | No |
ClinGen gnomAD |
|
|
CA370570705 rs1563356118 |
294 | E>Q | No |
ClinGen Ensembl |
|
|
rs61755336 CA4674162 |
296 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61755337 CA4674161 |
296 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs386723529 CA173937280 |
296 | Q>RGQELAEP | No |
ClinGen Ensembl |
|
|
CA173937292 rs377758944 |
301 | A>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs377758944 CA173937284 |
301 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4674160 rs61756241 |
303 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA173937279 rs919982474 |
305 | G>A | No |
ClinGen Ensembl |
|
|
rs1313275345 CA370570583 |
305 | G>R | No |
ClinGen gnomAD |
|
|
rs1247916071 CA370570574 |
306 | V>M | No |
ClinGen gnomAD |
|
|
rs761356073 CA4674158 |
308 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1133782 CA370570478 |
310 | L>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674156 rs554521683 |
310 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_011418 rs1133782 CA4674157 |
310 | L>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1133782 CA370570471 |
310 | L>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674155 rs760452478 |
312 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1460494931 CA370570390 |
313 | E>D | No |
ClinGen gnomAD |
|
|
CA4674154 rs774564849 |
314 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164714878 CA370570352 |
315 | Q>L | No |
ClinGen gnomAD |
|
|
rs771392768 CA4674153 |
316 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674152 rs148918013 |
316 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145711687 CA370570311 |
318 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370566141 rs1426782395 |
320 | Q>H | No |
ClinGen TOPMed |
|
|
rs1237246435 CA370566145 |
320 | Q>L | No |
ClinGen gnomAD |
|
|
rs1048240231 CA173932923 |
321 | A>V | No |
ClinGen TOPMed |
|
|
CA4674133 rs773482272 |
322 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA370566052 rs770255486 |
325 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4674132 rs770255486 |
325 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs748703810 CA4674131 |
327 | Q>H | No |
ClinGen ExAC |
|
|
CA173932914 rs866504602 |
328 | R>K | No |
ClinGen Ensembl |
|
|
CA370565974 rs556077192 |
329 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4674130 rs556077192 |
329 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4674129 rs768795249 |
330 | R>K | No |
ClinGen ExAC |
|
|
rs1383131038 CA370565927 |
332 | L>P | No |
ClinGen gnomAD |
|
|
CA370565873 rs1468650707 |
335 | V>G | No |
ClinGen gnomAD |
|
|
rs1287472397 CA370565886 |
335 | V>M | No |
ClinGen gnomAD |
|
|
rs1178006257 CA370565812 |
338 | A>T | No |
ClinGen gnomAD |
|
|
rs758578277 CA4674125 |
338 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs138976588 CA370565769 |
340 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674123 rs138976588 |
340 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61752042 CA4674121 |
341 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61736076 CA4674120 |
342 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760202992 CA4674119 |
343 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA173932690 rs34622674 |
345 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674085 rs774655247 |
345 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370565574 rs774655247 |
345 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000956571 CA4674086 VAR_057288 rs34622674 |
345 | T>P | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA370565520 rs1455307508 |
347 | L>P | No |
ClinGen TOPMed |
|
|
rs1439578040 CA370565502 |
348 | D>A | No |
ClinGen gnomAD |
|
|
rs1249041402 CA370565460 |
349 | A>V | No |
ClinGen gnomAD |
|
|
CA4674081 rs756056407 |
350 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205158964 CA370565451 |
350 | S>P | No |
ClinGen gnomAD |
|
|
CA4674082 rs756056407 |
350 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244204421 CA370565400 |
352 | T>K | No |
ClinGen gnomAD |
|
|
CA4674080 rs112449156 |
353 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780752527 CA4674079 |
353 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4674078 rs369635225 |
354 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199819618 CA4674076 |
357 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA173932656 rs922489438 |
357 | H>Y | No |
ClinGen TOPMed |
|
|
CA370565200 rs1373400350 |
359 | K>R | No |
ClinGen TOPMed |
|
|
rs146406246 CA4674075 |
361 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370565156 rs1367335931 |
362 | I>V | No |
ClinGen gnomAD |
|
|
rs1404497803 CA370565134 |
363 | Q>E | No |
ClinGen gnomAD |
|
|
rs1216453119 CA370565074 |
365 | Q>H | No |
ClinGen TOPMed |
|
|
rs764420694 CA4674073 |
366 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4674072 rs557200270 |
369 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4674071 rs148603893 |
370 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4674070 CA173932569 rs768082469 |
371 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 372 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374906816 CA4674068 |
373 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370564813 rs374906816 |
373 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1451323352 CA370564783 |
374 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4674067 rs771248330 |
376 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769544671 CA4674065 |
377 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763317596 CA4674066 |
377 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1348071347 CA370564678 |
377 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA173932558 rs952471286 |
378 | E>G | No |
ClinGen Ensembl |
|
|
CA370564547 rs768663219 |
380 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4674061 rs768663219 |
380 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354596586 CA370564519 |
381 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1013954696 CA173932541 |
382 | A>T | No |
ClinGen TOPMed |
|
|
COSM1456143 CA4674060 rs373138944 |
383 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1432926325 CA370564446 |
384 | S>Y | No |
ClinGen TOPMed |
|
|
rs189635857 CA173932540 |
385 | C>Y | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 386 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201537177 CA4674059 |
387 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9UBN6
4 regional properties for Q9UBN6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Homeobox domain | 265 - 329 | IPR001356 |
| domain | Zinc finger, LIM-type | 69 - 130 | IPR001781-1 |
| domain | Zinc finger, LIM-type | 131 - 193 | IPR001781-2 |
| conserved_site | Homeobox, conserved site | 300 - 323 | IPR017970 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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. |
| transmembrane signaling receptor activity | Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O00220 | TNFRSF10A | Tumor necrosis factor receptor superfamily member 10A | Homo sapiens (Human) | SS |
| O14798 | TNFRSF10C | Tumor necrosis factor receptor superfamily member 10C | 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 |
| MGLWGQSVPT | ASSARAGRYP | GARTASGTRP | WLLDPKILKF | VVFIVAVLLP | VRVDSATIPR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QDEVPQQTVA | PQQQRRSLKE | EECPAGSHRS | EYTGACNPCT | EGVDYTIASN | NLPSCLLCTV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CKSGQTNKSS | CTTTRDTVCQ | CEKGSFQDKN | SPEMCRTCRT | GCPRGMVKVS | NCTPRSDIKC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KNESAASSTG | KTPAAEETVT | TILGMLASPY | HYLIIIVVLV | IILAVVVVGF | SCRKKFISYL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KGICSGGGGG | PERVHRVLFR | RRSCPSRVPG | AEDNARNETL | SNRYLQPTQV | SEQEIQGQEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AELTGVTVEL | PEEPQRLLEQ | AEAEGCQRRR | LLVPVNDADS | ADISTLLDAS | ATLEEGHAKE |
| 370 | 380 | ||||
| TIQDQLVGSE | KLFYEEDEAG | SATSCL |