O14798
PR
Gene name |
TNFRSF10C (DCR1, LIT, TRAILR3, TRID) |
Protein name |
Tumor necrosis factor receptor superfamily member 10C |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8794 |
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 O14798
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O14798-F1 | Predicted | AlphaFoldDB |
306 variants for O14798
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1418347811 CA370562434 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA4673618 rs776763718 |
3 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs776763718 CA370562438 |
3 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs761937814 CA4673619 |
5 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769829841 CA4673620 |
6 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4673621 rs10107826 |
7 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA173929285 rs374790272 |
7 | T>I | No |
ClinGen Ensembl |
|
|
CA370562461 rs1585244229 |
7 | T>P | No |
ClinGen Ensembl |
|
|
rs766893658 CA4673623 |
8 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370562466 rs766893658 |
8 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673625 rs191930177 |
9 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763782406 CA4673626 |
10 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA370562514 rs1272237735 |
12 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1233266052 CA370562533 |
13 | V>A | No |
ClinGen gnomAD |
|
|
RCV000907507 CA4673627 rs147367612 |
15 | V>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4673629 rs147367612 |
15 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4673628 rs147367612 |
15 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370562574 rs1222568546 |
17 | V>F | No |
ClinGen gnomAD |
|
|
CA370562571 rs1222568546 |
17 | V>I | No |
ClinGen gnomAD |
|
|
CA4673632 rs758367362 |
18 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253765446 CA370562604 |
20 | P>S | No |
ClinGen gnomAD |
|
|
rs777959460 CA4673674 |
21 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA4673676 rs371065044 |
23 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371065044 CA4673675 |
23 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA173918987 rs772468769 |
26 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673677 rs778804388 |
26 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673678 rs772468769 |
26 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673679 rs772423882 |
28 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs780656224 CA4673680 |
29 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4673681 rs551651079 |
30 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551651079 CA4673682 |
30 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA173918993 rs1041205270 |
30 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4673683 rs777138418 |
32 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs762635342 CA4673684 |
34 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA173919001 rs866624709 |
35 | P>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 36 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs901311549 CA173919003 |
37 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs770729106 CA4673685 |
37 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673686 rs770729106 |
37 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569858474 CA370552899 |
39 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs569858474 CA4673687 |
39 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537354620 CA4673688 |
40 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 42 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344130143 CA370552920 |
43 | Q>E | No |
ClinGen TOPMed |
|
|
rs1297989411 CA370552929 |
44 | Q>E | No |
ClinGen TOPMed |
|
|
CA4673689 rs752739418 |
44 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370552936 rs1585247883 |
45 | R>K | No |
ClinGen Ensembl |
|
|
CA370552939 rs372665548 |
45 | R>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4673690 rs760461365 |
46 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1276512262 CA370552945 |
46 | H>R | No |
ClinGen TOPMed |
|
|
rs1343864809 CA370552950 |
47 | S>C | No |
ClinGen gnomAD |
|
|
CA370552962 rs1280095392 |
48 | F>L | No |
ClinGen gnomAD |
|
|
rs1353405874 CA370552957 |
48 | F>L | No |
ClinGen TOPMed |
|
|
CA370552974 rs1305874155 |
50 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs763811896 COSM604869 CA370552972 CA4673691 |
50 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA370552978 rs1220165765 |
51 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4673692 rs755286713 |
51 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 51 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220165765 CA370552979 |
51 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA173919021 rs957730568 |
52 | E>A | No |
ClinGen gnomAD |
|
|
CA370552989 rs757516121 CA4673693 |
52 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370552984 rs1244486792 |
52 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779159813 CA4673694 |
53 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA173919026 rs1010555544 |
55 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370553006 rs1010555544 |
55 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1423731813 CA370553010 |
56 | G>* | No |
ClinGen TOPMed |
|
|
CA4673718 rs781750714 |
56 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1423731813 CA370553008 |
56 | G>R | No |
ClinGen TOPMed |
|
|
rs781750714 CA370553285 |
56 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 57 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4673719 rs145921851 |
58 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370553307 rs1263836215 |
58 | H>R | No |
ClinGen gnomAD |
|
|
rs145921851 CA173919663 |
58 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA173919665 rs1008223270 |
62 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs374294925 CA4673720 |
63 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs61756239 CA4673721 |
64 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA580556869 rs1472208182 |
67 | N>M | No |
ClinGen gnomAD |
|
| TCGA novel | 67 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4673723 rs771607229 |
68 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585249014 CA370553494 |
70 | T>P | No |
ClinGen Ensembl |
|
|
CA370553506 rs1294962330 |
70 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370553551 rs1379254092 |
73 | V>G | No |
ClinGen TOPMed |
|
|
rs150502977 CA4673725 |
73 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1459164787 CA370553562 |
74 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs375695049 CA173919682 |
75 | Y>C | No |
ClinGen ESP |
|
|
rs1585249042 CA370553611 |
77 | N>I | No |
ClinGen Ensembl |
|
|
rs769431508 CA370553621 |
77 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370553630 rs765149128 |
78 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673729 COSM121034 rs765149128 |
78 | A>T | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA370553637 rs1227773384 COSM3779144 |
78 | A>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1277601747 CA370553646 |
79 | S>Y | No |
ClinGen Ensembl |
|
|
rs763286890 CA4673731 |
80 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA4673732 rs114291970 |
81 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748768602 CA4673734 |
82 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114358398 CA4673735 |
82 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192946577 CA370553698 |
83 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs949354409 CA370553704 |
83 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs949354409 CA173919700 |
83 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs192946577 CA4673736 |
83 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192946577 CA370553694 |
83 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1182508171 CA370553737 |
85 | C>S | No |
ClinGen TOPMed |
|
|
rs1045582896 CA173919703 |
88 | C>G | No |
ClinGen gnomAD |
|
|
rs778256901 CA4673740 |
91 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs139657865 CA4673741 |
91 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370553866 rs1585249079 |
93 | S>L | No |
ClinGen Ensembl |
|
|
rs1585249392 CA370554251 |
94 | D>G | No |
ClinGen Ensembl |
|
|
CA370554288 rs1208924815 |
96 | K>R | No |
ClinGen TOPMed |
|
|
CA370554286 rs1208924815 |
96 | K>T | No |
ClinGen TOPMed |
|
|
rs1585249401 CA370554304 |
97 | H>N | No |
ClinGen Ensembl |
|
|
rs777523887 CA4673770 |
97 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA370554317 rs1246933705 |
98 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4673771 rs367722416 |
98 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190186152 CA370554357 |
100 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA370554349 rs1221273036 |
100 | S>P | No |
ClinGen TOPMed |
|
|
CA370554353 rs1190186152 |
100 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1563345525 CA370554362 |
101 | C>R | No |
ClinGen Ensembl |
|
|
rs770782171 CA4673772 |
102 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA370554387 rs1477873028 |
102 | T>N | No |
ClinGen gnomAD |
|
|
rs1332328457 CA370554406 |
103 | M>I | No |
ClinGen TOPMed |
|
|
CA4673773 rs774281296 |
103 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA173919958 rs201656774 |
104 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs772398109 CA4673775 |
105 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA370554487 rs943517397 |
109 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA173919963 rs943517397 |
109 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1459006821 CA370554494 |
110 | Q>P | No |
ClinGen gnomAD |
|
|
rs1321397754 CA370554500 |
111 | C>R | No |
ClinGen gnomAD |
|
|
rs1330745401 CA370554510 |
112 | K>E | No |
ClinGen gnomAD |
|
|
rs775676498 CA4673776 |
113 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA370554545 rs760628420 |
114 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4673777 rs760628420 |
114 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4673782 rs146592155 |
117 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762380926 CA4673781 |
117 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370554679 rs1450718367 |
120 | N>I | No |
ClinGen gnomAD |
|
|
rs1450718367 CA370554676 |
120 | N>S | No |
ClinGen gnomAD |
|
|
CA173919973 rs867204990 |
121 | S>F | No |
ClinGen Ensembl |
|
|
rs752275283 CA4673785 |
124 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs755521340 CA4673786 |
126 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370554815 rs1182160708 |
126 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs749250247 CA4673788 |
127 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA173919985 rs1019862692 |
128 | C>Y | No |
ClinGen TOPMed |
|
|
rs1212765285 CA370554905 |
130 | R>G | No |
ClinGen TOPMed |
|
|
CA173919992 rs1052780302 |
130 | R>K | No |
ClinGen gnomAD |
|
|
rs1052780302 CA370554921 |
130 | R>T | No |
ClinGen gnomAD |
|
|
CA370555075 rs1243936159 |
131 | C>Y | No |
ClinGen gnomAD |
|
|
CA4673814 rs747257276 |
132 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779898868 CA4673813 |
132 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4673815 rs544402235 |
133 | S>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA370555117 rs1235920756 |
133 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1168364470 CA370555127 |
134 | G>R | No |
ClinGen gnomAD |
|
|
rs748188644 CA4673817 |
137 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1335646635 CA370555251 |
139 | S>G | No |
ClinGen gnomAD |
|
|
rs1383040103 CA370555254 |
139 | S>T | No |
ClinGen gnomAD |
|
|
CA370555316 rs1242820664 |
141 | C>F | No |
ClinGen TOPMed |
|
|
CA4673820 rs773652777 |
141 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673821 rs763312157 |
142 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766720181 CA4673822 |
142 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA173920256 rs892046052 |
144 | W>* | No |
ClinGen TOPMed |
|
|
rs760291565 CA4673824 |
147 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370555472 rs760291565 |
147 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574824749 CA4673825 |
150 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263890308 CA370555612 |
153 | F>S | No |
ClinGen gnomAD |
|
|
COSM1456141 CA4673826 rs376360379 |
156 | N>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4673827 rs756775757 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370555992 rs1438070793 |
167 | T>I | No |
ClinGen TOPMed |
|
|
CA370556000 rs1585249920 |
168 | M>V | No |
ClinGen Ensembl |
|
|
rs200276762 CA4673832 |
169 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758400646 CA4673834 |
170 | T>P | No |
ClinGen ExAC |
|
|
CA4673838 rs746790372 |
172 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA173920274 rs746790372 |
172 | P>R | No |
ClinGen ExAC TOPMed |
|
|
CA4673836 rs76324416 |
172 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4673842 rs748242070 |
174 | T>S | No |
ClinGen ExAC |
|
|
rs769799430 CA4673844 |
175 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769799430 CA4673846 |
175 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673847 rs769799430 |
175 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452649038 CA4673859 |
176 | A>D | No |
ClinGen TOPMed |
|
|
CA4673861 rs1452649038 |
176 | A>G | No |
ClinGen TOPMed |
|
|
CA4673858 rs749852045 |
176 | A>P | No |
ClinGen ExAC |
|
|
CA4673854 rs749852045 |
176 | A>S | No |
ClinGen ExAC |
|
|
rs749852045 CA4673856 |
176 | A>T | No |
ClinGen ExAC |
|
|
CA4673862 rs1452649038 |
176 | A>V | No |
ClinGen TOPMed |
|
|
rs753614644 CA173920305 |
177 | P>A | No |
ClinGen ExAC |
|
|
CA4673870 rs1255186121 |
177 | P>L | No |
ClinGen TOPMed |
|
|
CA4673869 rs1255186121 |
177 | P>Q | No |
ClinGen TOPMed |
|
|
CA4673871 rs1255186121 |
177 | P>R | No |
ClinGen TOPMed |
|
|
rs753614644 CA4673868 |
177 | P>S | No |
ClinGen ExAC |
|
|
rs753614644 CA4673867 |
177 | P>T | No |
ClinGen ExAC |
|
|
CA4673885 rs1554516570 |
178 | A>D | No |
ClinGen Ensembl |
|
|
rs1554516570 CA4673888 |
178 | A>G | No |
ClinGen Ensembl |
|
|
CA4673880 rs1020481692 |
178 | A>S | No |
ClinGen TOPMed |
|
|
CA4673881 rs1020481692 |
178 | A>T | No |
ClinGen TOPMed |
|
|
CA4673886 rs1554516570 |
178 | A>V | No |
ClinGen Ensembl |
|
|
rs1554516590 CA4673900 |
179 | A>D | No |
ClinGen Ensembl |
|
|
rs1554516590 CA4673902 |
179 | A>G | No |
ClinGen Ensembl |
|
|
rs1554516578 CA4673898 |
179 | A>P | No |
ClinGen Ensembl |
|
|
rs1554516578 CA4673896 |
179 | A>S | No |
ClinGen Ensembl |
|
|
rs1554516578 CA4673895 |
179 | A>T | No |
ClinGen Ensembl |
|
|
CA4673901 rs1554516590 |
179 | A>V | No |
ClinGen Ensembl |
|
|
rs1554516595 CA4673910 |
180 | E>* | No |
ClinGen Ensembl |
|
|
CA4673918 rs1554516597 |
180 | E>A | No |
ClinGen Ensembl |
|
|
rs761409769 CA4673923 CA4673920 |
180 | E>D | No |
ClinGen ExAC |
|
|
CA4673916 rs1554516597 |
180 | E>G | No |
ClinGen Ensembl |
|
|
rs1554516595 CA4673911 |
180 | E>K | No |
ClinGen Ensembl |
|
|
rs1554516595 CA4673912 |
180 | E>Q | No |
ClinGen Ensembl |
|
|
CA4673914 rs1554516597 |
180 | E>V | No |
ClinGen Ensembl |
|
|
rs764902062 CA4673925 |
181 | E>* | No |
ClinGen ExAC |
|
|
rs749935385 CA4673931 |
181 | E>A | No |
ClinGen ExAC |
|
|
rs1554516603 CA4673934 CA4673933 |
181 | E>D | No |
ClinGen Ensembl |
|
|
rs749935385 CA4673930 |
181 | E>G | No |
ClinGen ExAC |
|
|
CA4673928 rs764902062 |
181 | E>K | No |
ClinGen ExAC |
|
|
rs764902062 CA4673927 |
181 | E>Q | No |
ClinGen ExAC |
|
|
rs749935385 CA4673929 |
181 | E>V | No |
ClinGen ExAC |
|
|
CA4673938 rs751335392 |
182 | T>A | No |
ClinGen ExAC |
|
|
rs61736404 CA4673940 |
182 | T>I | No |
ClinGen Ensembl |
|
|
rs61736404 CA4673939 |
182 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs61736404 CA173920367 |
182 | T>R | No |
ClinGen Ensembl |
|
|
CA4673937 rs751335392 |
182 | T>S | No |
ClinGen ExAC |
|
|
CA4673955 CA4673954 CA4673953 rs749334327 |
183 | M>I | No |
ClinGen ExAC |
|
|
rs777879085 CA4673949 |
183 | M>K | No |
ClinGen ExAC |
|
|
CA370556315 rs372467352 CA4673948 |
183 | M>L | No |
ClinGen ESP ExAC |
|
|
CA4673952 rs777879085 |
183 | M>T | No |
ClinGen ExAC |
|
|
rs372467352 CA4673947 |
183 | M>V | No |
ClinGen ESP ExAC |
|
|
CA4673956 rs746229328 |
184 | N>D | No |
ClinGen ExAC |
|
|
CA370556351 rs61736405 |
184 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673961 CA4673959 rs41308126 |
184 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4673958 rs61736405 |
184 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673957 rs61736405 |
184 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4673962 rs762479117 |
185 | T>A | No |
ClinGen ExAC |
|
|
rs751449517 CA4673965 |
185 | T>I | No |
ClinGen ExAC |
|
|
rs751449517 CA4673964 |
185 | T>N | No |
ClinGen ExAC |
|
|
CA4673963 rs762479117 |
185 | T>P | No |
ClinGen ExAC |
|
|
rs752466079 CA4673968 |
186 | S>G | No |
ClinGen ExAC |
|
|
CA370556385 rs1300499046 |
186 | S>T | No |
ClinGen TOPMed |
|
|
CA4673969 rs756368482 |
187 | P>L | No |
ClinGen ExAC |
|
|
rs1456366858 CA370556416 |
188 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370556420 rs1456366858 |
188 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4673971 rs753883363 |
188 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA370556428 rs779287560 |
189 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4673973 rs779287560 |
189 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4673975 rs746450836 |
190 | P>H | No |
ClinGen ExAC |
|
|
CA370556470 rs1445619404 |
191 | A>V | No |
ClinGen TOPMed |
|
|
CA370556477 rs780610147 |
192 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4673978 rs747339712 |
192 | P>Q | No |
ClinGen ExAC |
|
|
CA4673977 rs780610147 |
192 | P>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1229866 rs769594904 CA4673980 |
194 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1393807176 CA370556515 |
194 | A>V | No |
ClinGen TOPMed |
|
|
CA4673981 rs772943623 |
195 | E>G | No |
ClinGen ExAC |
|
|
CA4673982 rs748753752 |
196 | E>* | No |
ClinGen ExAC |
|
|
CA370556544 rs1301046705 |
197 | T>I | No |
ClinGen gnomAD |
|
|
CA4673983 CA370556554 rs770540760 |
198 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4673985 rs12550828 VAR_046534 COSM295308 |
199 | T>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
rs767410774 CA4673988 |
202 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767410774 CA370556610 |
202 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206922487 CA370556642 |
204 | T>S | No |
ClinGen gnomAD |
|
|
rs1027655890 CA370556658 |
205 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1027655890 CA173920431 |
205 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370556674 rs1486335284 |
206 | A>G | No |
ClinGen gnomAD |
|
|
rs760412502 CA4673991 |
207 | P>T | No |
ClinGen ExAC |
|
|
CA370556724 rs1266472711 |
210 | E>K | No |
ClinGen gnomAD |
|
|
rs1431357086 CA370556759 |
211 | E>D | No |
ClinGen gnomAD |
|
|
rs1248607321 CA370556753 |
211 | E>G | No |
ClinGen TOPMed |
|
|
rs1201589834 CA370556767 |
212 | T>A | No |
ClinGen gnomAD |
|
|
rs61736406 CA173920439 |
214 | T>I | No |
ClinGen 1000Genomes TOPMed |
|
|
CA173920441 COSM295854 rs61736406 |
214 | T>N | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed |
|
CA4673994 rs764310730 |
217 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764310730 CA370556860 |
217 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323710393 CA370556911 |
220 | P>S | No |
ClinGen gnomAD |
|
|
CA370556965 rs1304225549 |
223 | A>D | No |
ClinGen gnomAD |
|
|
CA370556961 rs1407156234 |
223 | A>S | No |
ClinGen gnomAD |
|
|
CA370556975 rs765412277 |
224 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs765412277 CA4673997 |
224 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4673998 rs750441460 |
225 | E>* | No |
ClinGen ExAC |
|
|
rs759007730 CA4673999 |
226 | E>* | No |
ClinGen ExAC TOPMed |
|
|
CA370556986 rs759007730 |
226 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs1226609377 CA370556994 |
227 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 228 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219682599 CA370557002 |
228 | M>R | No |
ClinGen gnomAD |
|
|
CA173920457 rs9644063 |
229 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370557018 rs9644063 |
229 | I>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4674001 VAR_046535 rs9644063 |
229 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1456870761 CA370557022 |
230 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747394784 CA4674005 |
230 | T>S | No |
ClinGen ExAC |
|
|
CA370557031 rs1374478852 |
231 | S>I | No |
ClinGen TOPMed |
|
|
rs138041234 CA4674006 |
232 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1377739639 CA370557044 |
233 | G>V | No |
ClinGen TOPMed |
|
|
rs953312122 CA173920471 |
235 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs979209592 CA173920473 |
236 | A>T | No |
ClinGen TOPMed |
|
|
CA4674009 rs749028641 |
237 | S>A | No |
ClinGen ExAC |
|
|
rs770468681 CA4674010 |
238 | S>A | No |
ClinGen ExAC |
|
|
rs773950868 CA4674012 |
240 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
CA173920482 rs1040049954 |
242 | S>* | No |
ClinGen Ensembl |
|
|
rs745327005 CA4674013 |
243 | C>* | No |
ClinGen ExAC |
|
|
CA370557099 rs1419496097 |
243 | C>G | No |
ClinGen TOPMed |
|
|
rs1256579308 CA370557112 |
245 | I>F | No |
ClinGen TOPMed |
|
|
rs143879407 CA4674015 COSM129799 |
246 | V>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1563346474 CA370557125 |
247 | G>E | No |
ClinGen Ensembl |
|
|
CA370557141 rs1451212615 |
249 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs549625116 CA4674017 |
252 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370557180 rs1269448101 |
256 | I>T | No |
ClinGen gnomAD |
|
|
CA370557178 rs1258055532 |
256 | I>V | No |
ClinGen TOPMed |
|
|
CA173920496 rs779288905 |
257 | V>A | No |
ClinGen Ensembl |
|
|
rs932011060 CA173920498 |
258 | F>C | No |
ClinGen Ensembl |
|
|
rs756783539 CA4674019 |
260 | V>E | No |
ClinGen ExAC gnomAD |
No associated diseases with O14798
6 regional properties for O14798
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phox homology | 585 - 708 | IPR001683 |
| domain | Phox-associated domain | 157 - 331 | IPR003114 |
| domain | Sorting nexin, C-terminal | 825 - 928 | IPR013937 |
| domain | RGS domain | 363 - 495 | IPR016137 |
| domain | Sorting nexin-14, PX domain | 582 - 704 | IPR037436 |
| domain | SNX14, RGS domain | 367 - 493 | IPR037892 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchored component of membrane | The component of a membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping. |
| 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. |
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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| 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 |
|---|---|---|---|---|
| O00220 | TNFRSF10A | Tumor necrosis factor receptor superfamily member 10A | Homo sapiens (Human) | SS |
| 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 |
| MARIPKTLKF | VVVIVAVLLP | VLAYSATTAR | QEEVPQQTVA | PQQQRHSFKG | EECPAGSHRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EHTGACNPCT | EGVDYTNASN | NEPSCFPCTV | CKSDQKHKSS | CTMTRDTVCQ | CKEGTFRNEN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SPEMCRKCSR | CPSGEVQVSN | CTSWDDIQCV | EEFGANATVE | TPAAEETMNT | SPGTPAPAAE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ETMNTSPGTP | APAAEETMTT | SPGTPAPAAE | ETMTTSPGTP | APAAEETMIT | SPGTPASSHY |
| 250 | |||||
| LSCTIVGIIV | LIVLLIVFV |