Q08334
PR
Gene name |
IL10RB (CRFB4, D21S58, D21S66) |
Protein name |
Interleukin-10 receptor subunit beta |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3588 |
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
4 structures for Q08334
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3LQM | X-ray | 214 A | A/B | 20-220 | PDB |
| 5T5W | X-ray | 285 A | A | 19-220 | PDB |
| 6X93 | EM | 350 A | C/F | 20-220 | PDB |
| AF-Q08334-F1 | Predicted | AlphaFoldDB |
263 variants for Q08334
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001220017 rs1042356155 |
7 | S>N | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000544667 CA10006067 rs80027572 |
25 | E>K | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001051605 rs1989013782 |
27 | V>L | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326491 rs1989013997 |
31 | S>T | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1989014468 RCV001037664 |
40 | W>* | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000335085 rs182073431 CA10006072 |
44 | A>V | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000455211 rs2834167 CA126976 VAR_020666 RCV000018431 RCV000392488 |
47 | K>E | Hepatitis B virus, susceptibility to Inflammatory bowel disease 25 associated with susceptibility to HBV infection; higher cell surface levels [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1989015732 RCV001045365 |
53 | T>P | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs148466782 CA10006104 RCV000916193 |
72 | T>M | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs868604197 CA320146234 RCV001330006 |
100 | W>G | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10006113 RCV002537447 RCV000819820 rs757581728 |
110 | D>N | Inflammatory bowel disease 25 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000808261 CA10006126 rs769595310 |
111 | T>S | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1989246173 RCV001214334 |
123 | L>F | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA130903 rs387907326 RCV000034826 |
141 | E>* | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001083772 CA10006141 RCV000762358 rs45545138 |
148 | V>M | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1186719026 CA410109844 RCV003162933 RCV000645972 |
149 | Y>C | Inflammatory bowel disease 25 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000990344 rs1373354533 CA410109996 |
159 | W>* | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs121909601 RCV000018432 CA126979 |
159 | W>* | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770980693 RCV000811479 CA10006146 |
162 | G>S | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA410110156 RCV001349768 rs752902509 |
171 | P>T | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001239505 rs1989309241 |
179 | R>S | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10006161 rs141328537 RCV001228696 RCV002563145 |
183 | P>R | Inflammatory bowel disease 25 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000624271 CA10006164 rs779024080 |
188 | C>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001068406 rs147402422 CA10006167 |
192 | R>Q | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001352551 rs774890824 CA10006173 RCV002547562 |
198 | R>Q | Inborn genetic diseases Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1329427406 RCV000778639 CA410110372 |
204 | W>* | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001205247 rs1989311645 |
204 | W>R | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45469692 RCV000688434 RCV002507194 CA10006187 |
216 | E>K | Variant assessed as Somatic; 0.0 impact. Hepatitis B virus, susceptibility to Inflammatory bowel disease 25 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000819286 CA10006209 rs746250523 |
217 | T>M | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001316881 rs776085475 |
218 | V>I | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs920292604 CA320150040 RCV001204314 |
230 | S>* | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs752218442 RCV000818855 CA10006223 |
236 | L>P | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000795010 CA410111484 rs1601835501 COSM1030271 |
239 | L>I | endometrium Inflammatory bowel disease 25 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA10006225 RCV000686584 rs777514296 |
240 | G>S | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10006227 rs1058861 RCV000699258 |
243 | A>S | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1030272 rs1058861 CA10006228 RCV000815248 |
243 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium Inflammatory bowel disease 25 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA410111534 CA320150085 RCV000808391 rs368740217 |
246 | W>C | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs777216483 RCV002533565 RCV000699566 CA10006231 |
248 | V>I | Inflammatory bowel disease 25 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10006235 rs182875134 RCV000908453 |
255 | A>T | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA320150115 rs373204116 RCV000807141 |
265 | H>Q | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs756566292 RCV001308509 |
277 | T>I | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341667 rs1601839547 |
278 | L>missing | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2082965278 RCV001065207 |
280 | F>S | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2082965287 RCV001225552 |
281 | F>V | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2082965441 RCV001302720 |
288 | E>K | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001230671 rs2082965493 |
291 | V>I | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000798924 rs911014085 CA320107694 |
297 | V>I | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs762692366 CA10006284 RCV000700506 |
304 | S>N | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000645973 rs376143910 CA10006285 |
305 | G>S | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001246181 rs2082965718 |
306 | K>R | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2082965805 RCV001303125 |
311 | D>E | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204237 rs370841672 CA10006291 RCV001509077 |
316 | G>R | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000792099 CA410097108 rs1601839637 |
317 | T>S | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs141414815 CA10006292 RCV001035851 |
318 | P>L | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001343581 rs2082966126 |
324 | Q>* | Inflammatory bowel disease 25 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410106735 rs1165667595 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA410106763 rs1601825088 |
4 | S>C | No |
ClinGen Ensembl |
|
|
rs1410499690 CA410106807 |
7 | S>G | No |
ClinGen gnomAD |
|
|
CA320140001 rs1042356155 |
7 | S>T | No |
ClinGen Ensembl |
|
|
CA410106831 rs1172390487 |
8 | W>S | No |
ClinGen gnomAD |
|
|
CA320140023 rs777243818 |
10 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA10006033 rs777243818 |
10 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA320140025 rs1052142239 |
12 | C>S | No |
ClinGen TOPMed |
|
|
CA410106922 rs1268495862 |
15 | V>L | No |
ClinGen gnomAD |
|
|
CA410106939 rs1338780428 |
17 | A>T | No |
ClinGen gnomAD |
|
|
rs778708008 RCV000788409 |
18 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 19 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293357271 CA410106966 |
19 | G>R | No |
ClinGen TOPMed |
|
|
rs749393922 CA10006062 |
20 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10006063 rs770877186 |
23 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10006064 rs143985008 |
24 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA320141862 rs975065416 |
29 | M>V | No |
ClinGen gnomAD |
|
|
rs112276917 CA320141867 |
32 | V>I | No |
ClinGen Ensembl |
|
|
rs764032266 CA10006069 |
33 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1185486876 CA410107142 |
35 | K>R | No |
ClinGen gnomAD |
|
|
CA320141878 rs765774787 |
37 | I>T | No |
ClinGen Ensembl |
|
|
CA410107176 rs1288109259 |
37 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 38 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10006070 rs753650110 |
41 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320141882 rs574158887 |
44 | A>T | No |
ClinGen Ensembl |
|
|
CA410107327 rs2834167 |
47 | K>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410107345 rs1167796035 |
48 | G>E | No |
ClinGen gnomAD |
|
|
rs781729452 CA10006075 |
49 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10006077 rs778456036 |
51 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749709250 CA10006078 |
55 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA410107449 rs1480195526 |
56 | Y>F | No |
ClinGen TOPMed |
|
|
CA410108666 rs1204690869 |
60 | R>M | No |
ClinGen gnomAD |
|
|
CA410108675 rs1388825256 |
61 | I>V | No |
ClinGen gnomAD |
|
|
CA410108681 rs1248649877 |
62 | F>L | No |
ClinGen gnomAD |
|
|
CA410108691 rs1192250721 |
63 | Q>* | No |
ClinGen gnomAD |
|
|
CA410108728 rs1269352420 |
65 | K>R | No |
ClinGen TOPMed |
|
|
rs745891763 CA320146189 |
67 | M>T | No |
ClinGen Ensembl |
|
|
CA320146191 rs902877755 |
68 | N>I | No |
ClinGen TOPMed |
|
|
rs768484371 CA10006102 |
69 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA410108775 rs1178679614 |
70 | T>A | No |
ClinGen gnomAD |
|
|
rs776256199 COSM1413849 CA10006103 |
70 | T>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 76 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410108824 rs1391657172 |
77 | S>P | No |
ClinGen TOPMed |
|
|
rs1029038769 CA320146207 |
81 | K>M | No |
ClinGen Ensembl |
|
|
CA320146210 rs868071621 |
82 | Y>C | No |
ClinGen gnomAD |
|
|
CA410108880 rs1568905279 |
85 | H>P | No |
ClinGen Ensembl |
|
|
CA410108879 rs1601829999 |
85 | H>Y | No |
ClinGen Ensembl |
|
|
CA10006107 rs202019714 |
86 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751305633 CA10006109 |
88 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs781749695 CA320146224 |
90 | R>T | No |
ClinGen Ensembl |
|
|
CA10006110 rs759235490 |
95 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA10006111 rs764587844 |
99 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745403526 CA320146240 CA410108988 |
101 | V>L | No |
ClinGen gnomAD |
|
|
CA410109025 rs1252994838 |
106 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA320146255 rs200342641 |
110 | D>V | No |
ClinGen 1000Genomes |
|
|
CA320147338 rs926873545 |
115 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 116 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10006128 rs749216569 |
118 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10006129 rs770606336 COSM444383 |
120 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770606336 CA410109453 |
120 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1058859 CA320147345 |
124 | A>D | No |
ClinGen Ensembl |
|
|
rs1253613608 CA410109499 |
124 | A>T | No |
ClinGen gnomAD |
|
|
rs1058859 CA410109506 |
124 | A>V | No |
ClinGen Ensembl |
|
|
rs1474014107 CA410109521 |
126 | S>P | No |
ClinGen gnomAD |
|
|
rs1163600433 CA410109524 |
126 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10006130 rs773996271 |
128 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA10006131 rs759321517 |
129 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320147348 rs754246452 |
129 | M>V | No |
ClinGen TOPMed |
|
|
COSM444384 rs138134904 CA10006132 |
130 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10006133 rs775140370 |
130 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10006134 rs550407665 |
131 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410109672 rs1309604559 |
137 | E>G | No |
ClinGen gnomAD |
|
|
CA320147356 rs55879202 |
138 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 139 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10006135 rs765588235 |
140 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56373309 CA320147359 |
140 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 140 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10006136 rs387907326 |
141 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1292785803 CA410109750 |
142 | T>S | No |
ClinGen gnomAD |
|
|
CA10006137 rs758867325 |
143 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1230081800 CA410109764 |
143 | W>C | No |
ClinGen gnomAD |
|
|
CA10006140 rs149554130 |
145 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751623133 CA10006139 |
145 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1601831568 CA410109836 |
149 | Y>H | No |
ClinGen Ensembl |
|
|
rs1473515595 CA410109909 |
153 | T>I | No |
ClinGen gnomAD |
|
|
rs1418782614 CA410109939 |
155 | N>S | No |
ClinGen gnomAD |
|
|
rs1170254672 CA410109948 |
156 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs777682011 CA10006144 |
160 | K>E | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 160 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410110028 rs1332856363 |
161 | N>S | No |
ClinGen gnomAD |
|
|
rs1201758130 CA410110046 |
162 | G>D | No |
ClinGen TOPMed |
|
|
CA410110060 rs1568906449 |
164 | D>N | No |
ClinGen Ensembl |
|
|
CA320148443 rs960226843 |
168 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA320148446 rs752902509 |
171 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 171 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10006159 rs752902509 |
171 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA410110188 rs1435875739 |
175 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs370505707 CA10006160 |
176 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370505707 CA320148450 |
176 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410110202 rs1264856166 |
177 | V>A | No |
ClinGen TOPMed |
|
|
CA410110223 rs1369419963 |
180 | N>K | No |
ClinGen gnomAD |
|
|
rs1275748733 CA410110237 |
182 | E>D | No |
ClinGen gnomAD |
|
|
rs141328537 CA410110242 |
183 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA320148454 rs1019413077 |
184 | W>L | No |
ClinGen TOPMed |
|
|
CA410110258 rs1464997227 |
186 | T>A | No |
ClinGen gnomAD |
|
|
CA748798031 rs1217329570 |
187 | Y>* | No |
ClinGen TOPMed |
|
|
CA10006165 rs745768314 |
190 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA410110295 rs1199323225 |
191 | V>A | No |
ClinGen gnomAD |
|
|
CA10006166 COSM185958 rs771531217 |
192 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA410110316 rs1157096197 |
195 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA410110318 rs746703321 |
195 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10006168 rs746703321 |
195 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10006169 rs768281751 |
196 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763342351 CA10006171 COSM275556 |
198 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs561783785 CA10006175 |
200 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410110356 rs1440445758 |
202 | G>R | No |
ClinGen gnomAD |
|
|
CA10006176 rs752810741 |
203 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA10006177 rs770196094 |
204 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410110394 rs764413783 |
207 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764413783 CA10006178 |
207 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754072787 CA10006179 |
208 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 209 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410110406 rs1210320021 |
209 | C>Y | No |
ClinGen gnomAD |
|
|
CA10006182 CA10006181 rs374589516 |
210 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410110415 rs1269229004 |
210 | E>G | No |
ClinGen gnomAD |
|
|
rs1180814267 CA410110421 |
211 | Q>R | No |
ClinGen gnomAD |
|
|
rs1183510456 CA410110428 |
212 | T>K | No |
ClinGen TOPMed |
|
|
CA10006184 rs779485909 |
213 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949664612 CA320148464 |
214 | H>P | No |
ClinGen TOPMed |
|
|
CA410110438 rs949664612 |
214 | H>R | No |
ClinGen TOPMed |
|
|
rs748361469 CA320148463 |
214 | H>Y | No |
ClinGen Ensembl |
|
|
CA10006211 rs776085475 |
218 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10006213 rs768897026 |
220 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs776842133 CA10006214 |
223 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1280363095 CA410111389 |
224 | A>V | No |
ClinGen gnomAD |
|
|
rs765506701 CA10006216 |
225 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10006217 rs765506701 |
225 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA410111403 rs1254557577 |
227 | L>H | No |
ClinGen gnomAD |
|
|
rs762831183 CA10006218 |
227 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs376920653 CA320150035 |
228 | M>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376920653 CA410111407 |
228 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1258272704 CA410111422 |
230 | S>A | No |
ClinGen gnomAD |
|
|
CA10006221 rs142552677 |
233 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410111447 rs1227986334 |
234 | V>I | No |
ClinGen TOPMed |
|
|
rs150526845 CA10006222 |
235 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410111480 rs1466171395 |
238 | L>F | No |
ClinGen gnomAD |
|
|
CA410111491 rs777514296 |
240 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410111492 rs1321181254 |
240 | G>D | No |
ClinGen gnomAD |
|
|
CA410111533 rs368740217 |
246 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1234188765 CA410111530 |
246 | W>L | No |
ClinGen gnomAD |
|
|
rs1327225511 CA410111536 |
247 | C>R | No |
ClinGen gnomAD |
|
|
CA10006232 rs748240803 |
252 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769719395 CA10006233 |
254 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs182875134 CA10006236 |
255 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 257 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410111608 rs1361672013 |
257 | S>C | No |
ClinGen gnomAD |
|
|
rs1208133706 CA410111610 |
258 | P>S | No |
ClinGen TOPMed |
|
|
rs1456309688 CA410111616 |
259 | R>G | No |
ClinGen gnomAD |
|
|
CA410111630 rs1463611863 |
260 | N>K | No |
ClinGen TOPMed |
|
|
CA10006237 rs774118786 |
261 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1390768652 CA410111645 |
263 | P>Q | No |
ClinGen gnomAD |
|
|
rs759272206 CA10006238 |
264 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA410111654 rs1568909676 |
264 | Q>H | No |
ClinGen Ensembl |
|
|
rs1388274627 CA410111662 |
266 | L>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 268 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1019924295 CA320107572 |
270 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 272 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 273 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410096138 rs1440325763 |
274 | H>L | No |
ClinGen gnomAD |
|
|
CA10006268 rs753324475 |
275 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1237511761 CA410096147 |
275 | H>Y | No |
ClinGen gnomAD |
|
|
rs1389441693 CA410096164 |
276 | N>D | No |
ClinGen gnomAD |
|
|
rs756566292 CA10006269 |
277 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1601839539 CA410096179 |
277 | T>S | No |
ClinGen Ensembl |
|
|
CA410096191 rs781553501 |
278 | L>P | No |
ClinGen gnomAD |
|
|
CA320107636 rs781553501 |
278 | L>R | No |
ClinGen gnomAD |
|
|
CA320107643 rs200681978 |
280 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10006271 rs200681978 |
280 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1223477936 CA410096219 |
281 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 281 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10006273 rs771006570 |
282 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10006272 rs771006570 |
282 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410096257 COSM3550348 rs1321425844 |
284 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM1030274 CA10006275 rs771890796 |
286 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771890796 CA10006276 |
286 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10006278 rs768491723 |
288 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776563865 CA10006279 |
295 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10006280 rs147772699 |
296 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410096578 rs1206274579 |
298 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773041746 CA10006283 |
303 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 307 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172267278 CA410096856 |
307 | Q>K | No |
ClinGen gnomAD |
|
|
rs1426097642 CA410096867 |
307 | Q>R | No |
ClinGen gnomAD |
|
|
CA10006288 rs764543444 |
310 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753016855 CA10006286 |
310 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753016855 CA10006287 |
310 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10006289 rs544407415 |
311 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410096981 rs544407415 |
311 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410097012 rs1436407529 |
312 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1601839648 CA410097159 |
319 | P>H | No |
ClinGen Ensembl |
|
|
rs1346990747 CA410097174 |
320 | G>R | No |
ClinGen gnomAD |
|
|
rs746785015 CA10006297 |
323 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA410097256 rs1210461168 |
323 | P>T | No |
ClinGen gnomAD |
1 associated diseases with Q08334
[MIM: 612567]: Inflammatory bowel disease 25, autosomal recessive (IBD25)
A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:19890111}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269|PubMed:19890111}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for Q08334
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Fibronectin type III | 18 - 111 | IPR003961-1 |
| domain | Fibronectin type III | 114 - 216 | IPR003961-2 |
| domain | Interferon/interleukin receptor domain | 111 - 213 | IPR015373 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| integral component of plasma membrane | The component of the plasma 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. |
| interleukin-28 receptor complex | A protein complex that binds interleukin-28 and interleukin-29. It is composed of an alpha and a beta receptor subunit (in human IFNLR1/IL28Ralpha & IL10RB) and either Interleukin-28 (IFNL2 or IFNL3) or Interleukin-29 (IFNL1). |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytokine receptor activity | Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
| interleukin-10 receptor activity | Combining with interleukin-10 and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. |
| 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. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to virus | 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 stimulus from a virus. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| positive regulation of cellular respiration | Any process that activates or increases the frequency, rate or extent of cellular respiration. |
| positive regulation of receptor signaling pathway via JAK-STAT | Any process that activates or increases the frequency, rate or extent of the JAK-STAT signaling pathway activity. |
| 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. |
| type III interferon signaling pathway | The series of molecular signals initiated by type III interferon binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Interferon lambda is the only member of the type III interferon found so far. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAWSLGSWLG | GCLLVSALGM | VPPPENVRMN | SVNFKNILQW | ESPAFAKGNL | TFTAQYLSYR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IFQDKCMNTT | LTECDFSSLS | KYGDHTLRVR | AEFADEHSDW | VNITFCPVDD | TIIGPPGMQV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EVLADSLHMR | FLAPKIENEY | ETWTMKNVYN | SWTYNVQYWK | NGTDEKFQIT | PQYDFEVLRN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LEPWTTYCVQ | VRGFLPDRNK | AGEWSEPVCE | QTTHDETVPS | WMVAVILMAS | VFMVCLALLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CFALLWCVYK | KTKYAFSPRN | SLPQHLKEFL | GHPHHNTLLF | FSFPLSDEND | VFDKLSVIAE |
| 310 | 320 | ||||
| DSESGKQNPG | DSCSLGTPPG | QGPQS |