Q9BWS9
Gene name |
CHID1 (GL008, PSEC0104, SB139) |
Protein name |
Chitinase domain-containing protein 1 |
Names |
Stabilin-1-interacting chitinase-like protein, SI-CLP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:66005 |
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
2 structures for Q9BWS9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3BXW | X-ray | 270 A | A/B | 1-393 | PDB |
| AF-Q9BWS9-F1 | Predicted | AlphaFoldDB |
348 variants for Q9BWS9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs115345705 CA5793558 |
2 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5793559 rs549690523 |
2 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549420384 CA216989981 |
3 | T>R | No |
ClinGen Ensembl |
|
|
rs764219285 CA5793557 |
4 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1335323453 CA378966685 |
6 | N>S | No |
ClinGen gnomAD |
|
|
CA378966688 rs1335323453 |
6 | N>T | No |
ClinGen gnomAD |
|
|
CA378966623 rs1481369979 |
7 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5793556 rs377581510 |
8 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197763557 CA378966564 |
9 | W>C | No |
ClinGen gnomAD |
|
|
rs559255470 CA216989959 |
12 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1364057863 CA378966463 |
13 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378966466 rs1364057863 |
13 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA216989956 rs1027394712 |
14 | C>F | No |
ClinGen Ensembl |
|
|
rs765584828 CA5793554 |
15 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA5793553 rs140024174 |
16 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378966290 rs1157404760 |
17 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA378966291 rs1157404760 |
17 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5793551 rs369537760 |
19 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565203809 CA378966023 |
26 | A>T | No |
ClinGen Ensembl |
|
|
rs1349198129 CA378965993 |
26 | A>V | No |
ClinGen TOPMed |
|
|
CA216989920 rs897447611 |
27 | K>R | No |
ClinGen Ensembl |
|
|
rs1224101489 CA378965907 |
28 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs376582815 CA5793548 |
30 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5793547 rs749230118 |
30 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221433397 CA378965811 |
31 | S>L | No |
ClinGen gnomAD |
|
|
CA5793546 rs146843043 |
32 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1009120068 CA216989902 COSM1248238 |
33 | T>M | Variant assessed as Somatic; 0.0 impact. oesophagus central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1225467940 CA378965705 |
36 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA378965684 rs1225467940 |
36 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1231394454 CA378963482 |
38 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1298333021 CA378963471 |
38 | S>R | No |
ClinGen TOPMed |
|
|
CA378963454 rs1372199943 |
39 | Q>* | No |
ClinGen TOPMed |
|
|
rs1490599776 CA378963291 |
42 | D>G | No |
ClinGen gnomAD |
|
|
CA5793515 rs754244115 |
42 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs766738061 CA5793514 |
44 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216988464 rs867012629 |
44 | P>S | No |
ClinGen Ensembl |
|
|
CA378963170 rs1359316325 |
45 | V>G | No |
ClinGen gnomAD |
|
|
rs200139988 CA378963063 |
48 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200139988 CA5793509 |
48 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200818734 CA378963053 |
49 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200818734 CA5793508 |
49 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1441052732 CA378962999 |
51 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA216988408 rs749824532 |
53 | T>M | No |
ClinGen gnomAD |
|
|
CA5793504 rs547880950 |
59 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA216988395 rs148598758 |
59 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs148598758 CA378962672 |
59 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA378962652 rs1420890430 |
60 | V>L | No |
ClinGen gnomAD |
|
|
CA5793503 rs147773662 |
62 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378962568 rs1176788602 |
63 | E>G | No |
ClinGen gnomAD |
|
|
rs779066400 CA5793500 |
64 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs779066400 CA5793501 |
64 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5793502 rs772457493 |
64 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA378962502 rs1220696886 |
65 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5793499 rs754950202 |
65 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378962476 rs1410845259 |
66 | S>T | No |
ClinGen TOPMed |
|
|
rs568602461 CA5793498 |
69 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756519811 CA5793496 |
70 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA378962366 rs1318146960 |
70 | A>T | No |
ClinGen gnomAD |
|
|
rs750755754 CA5793495 |
73 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5793494 rs767819599 |
75 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1284870348 CA378962100 |
76 | H>R | No |
ClinGen gnomAD |
|
|
CA5793492 rs762679519 |
78 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5793491 rs752223525 |
79 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5793490 rs149526989 |
81 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262891751 CA378961663 |
87 | P>L | No |
ClinGen gnomAD |
|
|
rs771709076 CA5793484 |
87 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1163548201 CA378961323 |
88 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1163548201 CA378961337 |
88 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5793464 rs554156232 |
89 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5793462 rs775559505 |
93 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs373864240 CA5793460 COSM1248237 |
94 | D>N | Variant assessed as Somatic; 9.24e-05 impact. oesophagus central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA5793457 rs371483155 |
95 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5793458 rs371483155 |
95 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5793455 rs147404587 |
97 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs778156977 CA5793456 |
97 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753486053 CA5793454 |
98 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1363349254 CA378961012 |
98 | V>I | No |
ClinGen TOPMed |
|
|
CA5793452 rs755684842 |
101 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs904749399 CA216987520 |
105 | Q>H | No |
ClinGen TOPMed |
|
|
CA5793451 rs750446670 |
106 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5793450 rs767336380 |
108 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs267603234 CA5793449 |
108 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793447 rs143153872 |
109 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763164354 CA5793446 |
111 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs775684422 CA5793445 |
112 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA378960284 rs1301828388 |
114 | K>R | No |
ClinGen TOPMed |
|
|
rs202056261 CA5793444 COSM3953938 |
116 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5793443 rs759586674 |
117 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5793442 rs757215367 |
118 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5793441 rs771369989 |
118 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771369989 CA378960159 |
118 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5793439 rs368061351 |
120 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1039909944 CA216987481 |
120 | M>K | No |
ClinGen Ensembl |
|
|
rs747497630 CA5793440 |
120 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378959998 rs1589893123 |
123 | V>G | No |
ClinGen Ensembl |
|
|
CA216987478 rs946798349 |
123 | V>I | No |
ClinGen TOPMed |
|
|
rs139154177 COSM239321 CA5793438 |
124 | T>M | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1052435649 CA216987450 |
125 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs893907481 CA216987456 |
125 | G>S | No |
ClinGen Ensembl |
|
|
CA216987449 rs935366038 |
126 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs935366038 CA378959918 |
126 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199772507 CA5793435 |
127 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5793436 rs779843252 |
127 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs757164828 CA5793432 |
128 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793433 rs757164828 |
128 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763860256 CA5793430 |
129 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445954455 CA378958429 |
134 | M>I | No |
ClinGen TOPMed |
|
|
COSM1178072 CA5793398 rs762370145 |
135 | R>* | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5793397 rs774880059 |
135 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216986474 rs909333528 |
139 | K>E | No |
ClinGen Ensembl |
|
|
CA5793396 rs769085275 |
142 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA378958160 rs1278204752 |
142 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1278204752 CA378958161 |
142 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA378958090 rs1341992500 |
145 | H>Y | No |
ClinGen gnomAD |
|
|
rs1268922302 CA378958060 |
146 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1033335167 CA216985789 |
149 | R>Q | No |
ClinGen TOPMed |
|
|
COSM932981 CA378957631 rs1288483282 |
149 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA378957597 rs1223932398 |
151 | L>P | No |
ClinGen TOPMed |
|
|
rs767711694 CA5793363 |
154 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757397947 CA5793362 |
156 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA378957502 rs1345976427 |
156 | T>P | No |
ClinGen gnomAD |
|
|
CA378957500 rs1345976427 |
156 | T>S | No |
ClinGen gnomAD |
|
|
rs764630801 CA5793359 |
157 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
rs768146741 CA216985741 |
157 | Y>D | No |
ClinGen Ensembl |
|
|
rs201164951 CA5793357 |
158 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378957412 rs1460810850 |
160 | F>S | No |
ClinGen TOPMed |
|
|
rs765458236 CA216985709 |
161 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765458236 CA5793355 |
161 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793356 rs753123596 |
161 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793354 rs140948757 |
163 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs993756327 CA216985688 |
164 | L>F | No |
ClinGen Ensembl |
|
|
rs4963182 CA216985685 |
165 | D>H | No |
ClinGen Ensembl |
|
|
CA378957341 rs1173179201 |
166 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771630933 CA5793352 |
166 | S>N | No |
ClinGen ExAC |
|
|
rs1040582207 CA216985677 |
168 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 170 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378957259 rs1189876604 |
170 | I>T | No |
ClinGen gnomAD |
|
|
CA378957235 rs1243216164 |
172 | E>* | No |
ClinGen gnomAD |
|
|
CA378957180 rs1330686216 |
174 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 175 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749130873 CA5793348 |
176 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749130873 CA5793349 |
176 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5793346 rs769409810 |
177 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793343 rs757451317 |
179 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777661005 CA378957092 |
180 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793341 rs777661005 |
180 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793342 COSM119852 rs751719046 |
180 | V>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5793340 rs758953726 |
181 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1441968015 CA378957085 |
182 | K>Q | No |
ClinGen TOPMed |
|
|
CA5793318 rs552920405 |
186 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552920405 CA5793317 |
186 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378955894 rs1339909384 |
187 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs374659275 CA5793315 |
187 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 188 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5793313 rs762359264 |
189 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148078031 CA378955708 |
190 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148078031 CA5793311 |
190 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378955660 rs765296392 |
192 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793310 rs765296392 |
192 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300213384 CA378955630 |
193 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5793309 rs759497306 |
194 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA378955562 CA5793308 rs746151251 |
195 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589884482 CA378955572 |
195 | N>T | No |
ClinGen Ensembl |
|
|
CA378955311 rs1184914743 |
201 | K>N | No |
ClinGen gnomAD |
|
|
CA378955337 rs1369743503 |
201 | K>R | No |
ClinGen gnomAD |
|
|
rs772974142 CA378955298 |
202 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773290323 CA5793305 |
202 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773290323 CA378955269 |
202 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772974142 CA5793306 |
202 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA378955248 rs374093920 |
203 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5793303 rs374093920 |
203 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378952679 rs1385725743 |
204 | G>D | No |
ClinGen gnomAD |
|
|
rs1323561385 CA378952717 |
204 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA216980756 rs867862407 |
205 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA216980742 rs112060753 |
205 | L>P | No |
ClinGen gnomAD |
|
|
CA378952608 rs1455281031 |
206 | I>M | No |
ClinGen gnomAD |
|
|
rs1177143037 CA378952564 |
208 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1410800321 CA378952514 |
209 | L>P | No |
ClinGen gnomAD |
|
|
CA216980740 rs1039488094 |
211 | H>Y | No |
ClinGen TOPMed |
|
|
CA216980732 rs962266293 |
214 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA378952354 rs962266293 |
214 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1198146591 CA378952251 |
216 | L>V | No |
ClinGen gnomAD |
|
|
CA378952194 rs1250020082 |
217 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA378952193 rs1250020082 |
217 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378952108 rs1464572112 |
218 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA378952157 rs1464572112 |
218 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs373338550 CA216980730 |
218 | Q>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs113850108 CA5793291 |
219 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs11541325 CA378951978 |
220 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA216980726 rs11541325 |
220 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5793290 rs776704672 |
220 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378951869 rs1203610916 |
225 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA378951807 rs1240249210 |
227 | I>T | No |
ClinGen gnomAD |
|
|
rs953434134 CA216980724 |
227 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA216980722 rs1028958102 |
228 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA216980711 rs1000113020 |
229 | P>L | No |
ClinGen Ensembl |
|
|
rs1399858508 CA378951680 |
230 | A>T | No |
ClinGen gnomAD |
|
|
rs1589865595 CA378951591 |
232 | T>P | No |
ClinGen Ensembl |
|
|
rs1391970697 CA378951562 |
233 | P>L | No |
ClinGen gnomAD |
|
|
CA378951555 rs1267678898 |
234 | G>R | No |
ClinGen TOPMed |
|
|
CA378946373 rs1420444013 |
235 | T>S | No |
ClinGen gnomAD |
|
|
rs905315937 CA216971750 |
236 | D>E | No |
ClinGen gnomAD |
|
|
rs143837907 CA5793267 |
236 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378946259 CA216971749 rs149001064 |
240 | M>I | No |
ClinGen ESP |
|
|
COSM932853 CA5793265 rs146861158 |
242 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA378946149 rs1489063390 |
244 | K>R | No |
ClinGen gnomAD |
|
|
rs1589842602 CA378946004 |
248 | Q>H | No |
ClinGen Ensembl |
|
|
CA5793263 rs775506286 |
249 | L>V | No |
ClinGen ExAC |
|
|
CA5793262 rs770223032 |
250 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5793261 rs746324429 |
250 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781411027 CA5793260 |
251 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5793257 rs536210286 |
252 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376597827 CA216971696 |
252 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376597827 CA5793258 |
252 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754573713 CA5793256 |
256 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 257 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486910105 CA378945819 |
260 | T>I | No |
ClinGen TOPMed |
|
|
CA5793254 rs779663358 |
262 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487507985 CA378945787 |
262 | D>V | No |
ClinGen TOPMed |
|
|
CA378945763 rs1434380846 |
263 | Y>C | No |
ClinGen gnomAD |
|
|
CA378945768 rs1295292498 |
263 | Y>H | No |
ClinGen gnomAD |
|
|
rs1190584151 CA378945734 |
264 | S>A | No |
ClinGen TOPMed |
|
|
rs756019950 CA5793253 |
265 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767285671 CA378945705 |
266 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767285671 CA5793251 |
266 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434120976 CA378945686 |
267 | H>R | No |
ClinGen gnomAD |
|
|
rs1158810657 CA378945697 |
267 | H>Y | No |
ClinGen gnomAD |
|
|
CA216970917 rs1038103160 |
272 | N>H | No |
ClinGen TOPMed |
|
|
rs758620003 CA5793228 |
272 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs752907443 CA5793226 |
273 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs752907443 CA378944576 |
273 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs942468617 CA216970905 |
275 | L>V | No |
ClinGen TOPMed |
|
|
CA378944537 rs1396787401 |
276 | S>F | No |
ClinGen gnomAD |
|
|
rs766939366 CA5793222 |
277 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA378944514 rs777043780 |
277 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793223 rs777043780 |
277 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376968788 CA5793221 |
278 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171104679 CA378944416 |
279 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5793220 rs773727065 |
279 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1426407248 CA378944386 |
280 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs772499627 CA5793219 |
280 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5793218 rs749015751 |
281 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793216 rs769240188 |
282 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745355777 CA5793212 |
285 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA378944261 rs1252429427 |
285 | L>P | No |
ClinGen gnomAD |
|
|
rs1168139248 CA378944193 |
287 | P>A | No |
ClinGen TOPMed |
|
|
CA5793210 rs757197761 |
287 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378944152 rs757197761 |
287 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216970833 rs954810231 |
290 | K>E | No |
ClinGen gnomAD |
|
|
rs1310933713 CA378943948 |
291 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1414539386 CA378943912 |
292 | R>* | No |
ClinGen gnomAD |
|
|
CA378943905 rs758172690 |
292 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs758172690 CA5793207 |
292 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755114027 CA5793204 |
299 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs373872718 CA216970818 |
302 | Y>C | No |
ClinGen ESP TOPMed |
|
|
rs1295353338 CA378943323 |
304 | M>V | No |
ClinGen TOPMed |
|
|
CA378943243 rs1369829408 |
305 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 305 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768941590 CA216970795 |
307 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766313099 CA5793201 |
307 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM932838 CA5793200 rs768941590 |
307 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762249594 CA5793197 |
308 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA216970786 rs149684575 |
308 | T>I | No |
ClinGen ESP gnomAD |
|
|
rs878890981 CA216970782 |
309 | S>F | No |
ClinGen Ensembl |
|
|
rs1023635066 CA216970781 |
310 | K>R | No |
ClinGen TOPMed |
|
|
rs1487517317 CA378942997 |
311 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5793195 rs769521441 |
312 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893719722 CA216970774 |
312 | A>V | No |
ClinGen Ensembl |
|
|
CA5793194 rs745451507 COSM178087 |
313 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5793193 rs776207830 |
313 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA216970766 rs770419040 |
316 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5793192 rs770419040 |
316 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1589839862 CA378942835 |
317 | V>D | No |
ClinGen Ensembl |
|
|
rs573813834 CA378942842 |
317 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5793190 rs573813834 |
317 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5793187 CA5793188 rs761220629 |
318 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778522335 CA5793186 |
319 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs772721428 CA5793153 |
322 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA378936557 rs1441106376 |
324 | T>I | No |
ClinGen gnomAD |
|
|
CA378936509 rs1216459839 |
328 | H>R | No |
ClinGen TOPMed |
|
|
CA5793150 rs774142546 |
330 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1127800 CA378936472 |
331 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5793148 rs1127800 VAR_031173 |
331 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5793149 rs142743201 |
331 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775389483 CA5793147 |
332 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1371190923 CA378936438 |
334 | W>* | No |
ClinGen Ensembl |
|
|
rs1449934133 CA378936426 |
335 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378936401 rs1245837767 |
336 | S>I | No |
ClinGen TOPMed |
|
|
CA5793145 rs746032586 |
337 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6682 CA216958713 |
338 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5793143 rs757268762 |
338 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs6682 CA5793142 VAR_031174 |
338 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374232737 CA5793141 |
340 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378936348 rs1326860808 |
340 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA378936345 rs1326860808 |
340 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370672044 CA5793140 |
341 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765526454 CA5793138 |
342 | F>L | Variant assessed as Somatic; 4.734e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378936286 rs1589810818 |
342 | F>S | No |
ClinGen Ensembl |
|
|
CA378936292 rs1417546339 |
342 | F>V | No |
ClinGen gnomAD |
|
|
CA5793136 rs142808709 |
343 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5793137 rs755766935 |
343 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs772327238 CA216958705 |
344 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA378936255 rs1201815172 |
344 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs761206835 CA5793134 |
346 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774390750 CA5793133 |
347 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1441853400 CA378935918 |
349 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA5793109 rs140476082 |
349 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5793108 rs370593417 |
350 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 354 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378935660 rs748714060 |
354 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748714060 CA5793105 |
354 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138166915 CA5793104 |
355 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138166915 CA378935589 |
355 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769049099 CA5793103 |
356 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1589809839 CA378935492 |
357 | Y>C | No |
ClinGen Ensembl |
|
|
rs1589809823 CA378935393 |
359 | T>P | No |
ClinGen Ensembl |
|
|
rs761978057 CA5793067 |
362 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5793065 rs764097989 |
363 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA5793063 rs763441480 |
364 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793061 rs374883925 |
366 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5793062 rs142286202 |
366 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771863477 CA5793059 |
368 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs771863477 CA5793058 |
368 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1210528761 CA378934630 |
369 | L>V | No |
ClinGen gnomAD |
|
|
rs747733825 CA378934588 |
371 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793056 rs778633553 |
371 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5793057 rs747733825 |
371 | R>W | Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754522495 CA5793055 |
373 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs750256778 CA5793051 |
375 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5793052 rs556045828 |
375 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1372720094 CA378934357 |
377 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA216958286 rs754145886 |
378 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1468389732 CA378934204 |
380 | W>* | No |
ClinGen gnomAD |
|
|
rs934223496 CA216958275 |
382 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1369931568 CA378934133 |
382 | L>V | No |
ClinGen gnomAD |
|
|
CA5793047 rs545997593 |
383 | G>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA5793048 rs751780638 |
383 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199673911 CA378933966 |
386 | L>R | No |
ClinGen gnomAD |
|
|
rs775388800 CA5793044 |
387 | D>V | No |
ClinGen ExAC |
|
|
rs1303411346 CA378933918 |
388 | Y>D | No |
ClinGen TOPMed |
|
|
rs1378154990 CA378933884 |
389 | F>Y | No |
ClinGen TOPMed |
|
|
rs765793433 CA378933862 |
390 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA378933872 rs1251345734 |
390 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs765793433 CA5793043 |
390 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA5793041 rs777138598 |
391 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs182950163 CA216958253 |
393 | L>F | No |
ClinGen 1000Genomes gnomAD |
No associated diseases with Q9BWS9
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| lysosomal lumen | The volume enclosed within the lysosomal membrane. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| chitin binding | Binding to chitin, a linear polysaccharide consisting of beta-(1->4)-linked N-acetyl-D-glucosamine residues. |
| oligosaccharide binding | Binding to an oligosaccharide, a molecule with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate metabolic process | The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| negative regulation of cytokine production involved in inflammatory response | Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRTLFNLLWL | ALACSPVHTT | LSKSDAKKAA | SKTLLEKSQF | SDKPVQDRGL | VVTDLKAESV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VLEHRSYCSA | KARDRHFAGD | VLGYVTPWNS | HGYDVTKVFG | SKFTQISPVW | LQLKRRGREM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FEVTGLHDVD | QGWMRAVRKH | AKGLHIVPRL | LFEDWTYDDF | RNVLDSEDEI | EELSKTVVQV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AKNQHFDGFV | VEVWNQLLSQ | KRVGLIHMLT | HLAEALHQAR | LLALLVIPPA | ITPGTDQLGM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FTHKEFEQLA | PVLDGFSLMT | YDYSTAHQPG | PNAPLSWVRA | CVQVLDPKSK | WRSKILLGLN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FYGMDYATSK | DAREPVVGAR | YIQTLKDHRP | RMVWDSQASE | HFFEYKKSRS | GRHVVFYPTL |
| 370 | 380 | 390 | |||
| KSLQVRLELA | RELGVGVSIW | ELGQGLDYFY | DLL |