P56202
PR
Gene name |
CTSW |
Protein name |
Cathepsin W |
Names |
Lymphopain |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1521 |
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 P56202
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P56202-F1 | Predicted | AlphaFoldDB |
357 variants for P56202
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs749703639 CA6110828 |
4 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6110829 rs755315802 |
5 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381315558 rs1457767499 |
6 | H>R | No |
ClinGen TOPMed |
|
|
CA381315548 rs1434281745 |
6 | H>Y | No |
ClinGen gnomAD |
|
|
rs1276244021 CA381315595 |
7 | P>A | No |
ClinGen gnomAD |
|
|
rs1292824358 CA381315637 |
7 | P>L | No |
ClinGen gnomAD |
|
|
CA6110830 rs368947960 |
8 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381315653 rs1591071686 |
8 | S>P | No |
ClinGen Ensembl |
|
|
rs773360041 CA6110834 |
9 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA381315825 rs1278131141 |
12 | A>T | No |
ClinGen gnomAD |
|
|
rs1252680067 CA381315887 |
15 | V>M | No |
ClinGen Ensembl |
|
|
rs776692077 CA6110839 |
21 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372406773 CA6110842 |
23 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381316205 rs774219348 |
23 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs774219348 CA6110843 |
23 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1356807190 CA381316275 |
24 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1183796917 CA381316326 |
25 | P>A | No |
ClinGen gnomAD |
|
|
rs761855001 CA6110844 |
28 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6110845 rs767308028 |
29 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs770899576 CA6110858 |
30 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs776975711 CA6110859 |
31 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381316663 rs1357011784 |
31 | L>V | No |
ClinGen gnomAD |
|
|
CA6110861 rs746087896 |
32 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746087896 CA6110860 |
32 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223984480 rs746087896 |
32 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6110864 rs772085758 |
33 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA223984506 rs373360066 |
34 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373360066 CA381316751 |
34 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs546317243 CA6110867 |
35 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6110866 rs760292410 |
35 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381316940 rs1240156888 |
40 | E>Q | No |
ClinGen gnomAD |
|
|
CA6110872 rs753093602 |
41 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6110870 rs764824217 |
41 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6110871 rs753093602 |
41 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381317031 rs1379536250 |
43 | K>Q | No |
ClinGen gnomAD |
|
|
rs778398343 CA6110873 |
43 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174159963 CA381317057 |
44 | L>F | No |
ClinGen gnomAD |
|
|
CA381317099 rs1413608630 |
46 | Q>H | No |
ClinGen gnomAD |
|
|
rs1422768910 CA381317094 |
46 | Q>R | No |
ClinGen gnomAD |
|
|
CA6110874 rs752002972 |
47 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs757712214 CA6110875 |
48 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs116206676 CA6110877 |
51 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781142069 CA6110876 |
51 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266165315 CA475299931 |
58 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6110880 rs780389746 |
58 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780389746 CA6110879 |
58 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1358503996 CA381318841 |
59 | H>Q | No |
ClinGen gnomAD |
|
|
rs1046157329 CA223985257 |
60 | A>G | No |
ClinGen gnomAD |
|
|
rs544107680 CA223985259 |
61 | H>Q | No |
ClinGen 1000Genomes |
|
|
CA6110902 rs150054992 |
62 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6110903 COSM1202647 rs145203884 |
62 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA381318900 rs145203884 |
62 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381318910 rs1304012253 |
63 | L>P | No |
ClinGen TOPMed |
|
|
rs141204630 CA6110904 |
64 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6110905 rs141204630 |
64 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6110906 rs145070075 |
65 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6110907 rs770809672 |
65 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6110908 rs776521640 |
66 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749460950 CA6110909 |
68 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161979036 CA381319014 |
68 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs200649581 CA6110910 |
69 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 71 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140363156 CA6110911 |
72 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs143555562 CA6110912 |
73 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA381319130 rs1313661277 |
73 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381319180 rs1268351389 |
75 | R>K | No |
ClinGen gnomAD |
|
|
rs1217209806 CA381319208 |
77 | Q>P | No |
ClinGen gnomAD |
|
|
rs1194706208 CA381319228 |
78 | E>K | No |
ClinGen TOPMed |
|
|
CA381319345 rs1468232109 |
81 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6110914 rs763750031 |
81 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6110915 rs774609398 |
82 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381319448 rs1215480118 |
87 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256340577 CA381319496 |
89 | T>P | No |
ClinGen gnomAD |
|
|
rs948272375 CA223985330 |
90 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6110916 rs762205028 |
90 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1440886544 CA381319546 |
91 | F>Y | No |
ClinGen gnomAD |
|
|
rs768186594 CA6110917 |
92 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA381319559 rs1208318979 |
92 | S>N | No |
ClinGen TOPMed |
|
|
CA381319597 rs1378892980 |
94 | L>F | No |
ClinGen gnomAD |
|
|
rs750952674 CA6110918 |
96 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6110932 rs748789165 |
98 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6110933 rs768232198 |
99 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381319796 rs768232198 |
99 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390743271 CA381319805 |
100 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1313713718 CA381319843 |
102 | L>F | No |
ClinGen gnomAD |
|
|
rs1230652048 CA381319861 |
103 | Y>H | No |
ClinGen gnomAD |
|
|
rs1262052362 CA381319910 |
105 | Y>C | No |
ClinGen gnomAD |
|
|
rs114953123 CA6110936 |
106 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs551232472 CA6110935 |
106 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1591072793 CA381319931 |
107 | R>T | No |
ClinGen Ensembl |
|
|
rs114792077 CA6110937 |
108 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761278901 CA6110938 |
109 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766945204 CA381320006 |
111 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6110940 rs753899555 |
111 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs766945204 CA6110939 |
111 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591072817 CA381320033 |
112 | V>G | No |
ClinGen Ensembl |
|
|
CA381320026 rs1424530931 |
112 | V>L | No |
ClinGen gnomAD |
|
|
rs755057591 CA6110941 |
113 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6110942 rs150579466 |
114 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381320063 rs1461461985 |
114 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1384812011 CA381320128 |
117 | R>T | No |
ClinGen gnomAD |
|
|
rs1016369164 CA223985738 |
119 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757628596 CA223985728 |
119 | I>V | No |
ClinGen Ensembl |
|
|
rs758545430 CA6110944 |
120 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1332808790 CA381320198 |
121 | S>Y | No |
ClinGen TOPMed |
|
|
CA381320206 rs1220055031 |
122 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381320231 rs1565278244 |
123 | E>K | No |
ClinGen Ensembl |
|
|
CA381320278 rs1306365212 |
124 | P>L | No |
ClinGen gnomAD |
|
|
rs745611766 CA6110946 |
125 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs367632876 CA6110947 |
126 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1267682109 CA381320309 |
126 | E>K | No |
ClinGen gnomAD |
|
|
rs1264337632 CA381320372 |
129 | P>S | No |
ClinGen gnomAD |
|
|
rs1478945709 CA381320385 |
130 | F>L | No |
ClinGen gnomAD |
|
|
CA381320398 rs1591072894 |
130 | F>S | No |
ClinGen Ensembl |
|
|
rs988018533 CA223985796 |
131 | S>R | No |
ClinGen Ensembl |
|
|
rs371607964 CA6110950 |
135 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6110949 rs748796495 |
135 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591072910 CA381320590 |
137 | V>G | No |
ClinGen Ensembl |
|
|
CA6110955 rs604630 |
139 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6110954 VAR_058847 rs604630 |
139 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777175870 CA6110957 |
140 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6110956 rs147390159 |
140 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381320679 COSM1356091 rs777175870 |
140 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs139545276 CA6110958 |
141 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381320743 rs1228335117 |
143 | P>R | No |
ClinGen gnomAD |
|
|
CA381320730 rs1360663315 |
143 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381320825 rs1320510378 |
146 | D>G | No |
ClinGen gnomAD |
|
|
CA381320808 rs1565278309 |
146 | D>N | No |
ClinGen Ensembl |
|
|
CA223986064 rs371613156 |
148 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
| rs1156665339 | 149 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381321048 rs1414729081 |
150 | C>R | No |
ClinGen gnomAD |
|
|
rs1403302181 CA381321062 |
150 | C>W | No |
ClinGen gnomAD |
|
|
CA6110985 rs778677740 |
150 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs868427237 CA223986074 |
154 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs752296877 CA6110986 |
155 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200239906 CA223986093 |
156 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6110987 rs757962786 |
158 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6110988 rs560156512 |
158 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1249740375 CA381321222 |
159 | A>V | No |
ClinGen gnomAD |
|
|
CA6110990 rs756796757 |
161 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs781634013 CA6110992 |
162 | I>K | No |
ClinGen ExAC |
|
|
rs1346669545 CA381321281 |
163 | E>Q | No |
ClinGen TOPMed |
|
|
CA6110993 rs562491236 |
164 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 165 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6110994 rs149472509 |
165 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113492674 CA6110997 |
166 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200630376 CA6110996 |
166 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147355525 CA6110998 |
167 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6110999 rs762107230 |
167 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762107230 CA381321341 |
167 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762107230 CA381321340 |
167 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759222279 CA6111002 |
169 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6111003 rs765317152 |
171 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1328724762 CA381321389 |
173 | F>V | No |
ClinGen gnomAD |
|
|
CA6111004 rs752670833 |
174 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381321401 rs1017826881 |
174 | V>L | No |
ClinGen TOPMed |
|
|
rs1017826881 CA223986200 |
174 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs151110979 CA6111006 |
176 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746291354 CA6111010 |
178 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA223986231 rs140048610 CA381321444 |
178 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6111009 rs140048610 |
178 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6111011 rs143577070 |
180 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775452812 CA6111039 |
182 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6111040 rs114732493 |
183 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201632151 CA6111041 |
186 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140611694 CA6111042 |
186 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA223986370 rs1046218558 |
187 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381321600 rs1298125900 |
188 | G>E | No |
ClinGen TOPMed |
|
|
rs761451395 CA6111043 |
188 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381321639 rs1334993201 |
191 | C>Y | No |
ClinGen gnomAD |
|
|
CA381321652 rs1342297732 |
192 | H>Y | No |
ClinGen gnomAD |
|
|
CA6111044 COSM3752646 rs377646629 |
193 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150421438 CA6111047 |
196 | V>I | Variant assessed as Somatic; 9.252e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381321746 rs755315668 |
198 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754243026 CA6111049 |
198 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs533711333 CA6111051 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1182288733 CA381321767 |
199 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1417107934 CA381321810 |
201 | I>L | No |
ClinGen TOPMed |
|
|
rs1417107934 CA381321807 |
201 | I>V | No |
ClinGen TOPMed |
|
|
rs200723179 CA6111057 |
203 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200723179 CA6111056 |
203 | V>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200723179 CA381321848 |
203 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6111055 rs747066710 |
203 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381321868 rs1173339679 |
204 | L>F | No |
ClinGen gnomAD |
|
|
rs749149766 CA6111058 |
205 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6111059 rs768564165 |
205 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6111080 rs34335714 |
207 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs540500544 CA6111082 |
208 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381322106 rs1317949750 |
208 | G>V | No |
ClinGen gnomAD |
|
|
rs1250069316 CA381322126 |
209 | L>P | No |
ClinGen gnomAD |
|
|
rs770425141 CA6111084 |
213 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1210884094 CA381322222 |
214 | D>N | No |
ClinGen gnomAD |
|
|
CA6111085 rs776054466 |
215 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs764898943 CA6111087 |
216 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381322280 rs1468555597 |
216 | P>T | No |
ClinGen TOPMed |
|
|
CA6111089 rs770504692 |
217 | F>* | No |
ClinGen ExAC |
|
|
CA223986613 rs913261216 |
217 | F>S | No |
ClinGen Ensembl |
|
|
CA6111091 rs763349460 |
218 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6111092 rs606830 VAR_057041 |
218 | Q>R | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6111093 rs752104783 |
219 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6111095 rs757770389 |
220 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6111096 rs767717590 |
225 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1402753669 CA381322574 |
227 | H>Y | No |
ClinGen gnomAD |
|
|
rs750480993 CA6111097 |
231 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA381322745 rs1307467442 |
233 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA381322762 rs1246134748 |
233 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6111099 rs759086234 |
234 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381324524 rs1301914309 |
237 | I>V | No |
ClinGen TOPMed |
|
|
rs1489949323 CA381324565 |
239 | D>N | No |
ClinGen gnomAD |
|
|
rs1222025252 CA381324589 |
240 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA223987902 rs775883600 |
241 | I>L | No |
ClinGen Ensembl |
|
|
rs780292297 CA381324678 |
242 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780292297 CA6111100 |
242 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6111102 rs747942291 |
244 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223987918 rs371248183 |
245 | N>Y | No |
ClinGen ESP |
|
|
CA381324892 rs1393138673 |
247 | E>K | No |
ClinGen TOPMed |
|
|
rs1386867011 CA381324924 |
247 | E>V | No |
ClinGen gnomAD |
|
|
CA6111106 rs201310333 |
248 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381325089 rs1403236669 |
249 | R>K | No |
ClinGen gnomAD |
|
|
CA6111140 rs139918297 |
250 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765337885 CA6111141 |
251 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223988303 rs918519511 |
252 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1368626470 CA381325215 |
253 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1368626470 CA381325209 |
253 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1591073874 CA381325219 |
253 | Y>S | No |
ClinGen Ensembl |
|
|
rs1228637378 CA381325233 |
254 | L>V | No |
ClinGen TOPMed |
|
|
rs1225560883 CA381325251 |
255 | A>D | No |
ClinGen gnomAD |
|
|
CA381325248 rs1358165821 |
255 | A>T | No |
ClinGen TOPMed |
|
|
CA6111146 rs755923670 |
257 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202961600 CA381325316 |
258 | G>C | No |
ClinGen gnomAD |
|
|
CA381325323 rs1273552217 |
258 | G>V | No |
ClinGen gnomAD |
|
|
rs1233423646 CA381325330 |
259 | P>S | No |
ClinGen gnomAD |
|
|
CA6111149 rs567450383 |
261 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748607117 CA6111151 |
262 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381325454 rs1565278933 |
263 | T>I | No |
ClinGen Ensembl |
|
|
rs768902893 CA223988319 |
264 | I>N | No |
ClinGen TOPMed |
|
|
rs768902893 CA381325465 |
264 | I>S | No |
ClinGen TOPMed |
|
|
CA6111152 rs772710218 |
264 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381325475 rs1461768633 |
265 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA223988351 rs868046006 |
266 | M>I | No |
ClinGen gnomAD |
|
|
rs773658130 CA6111153 |
266 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs761085585 CA381325543 |
267 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167977710 CA381325520 |
267 | K>Q | No |
ClinGen gnomAD |
|
|
rs761085585 CA6111154 |
267 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM930533 CA223988360 rs536157333 |
268 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
CA6111155 rs771247119 |
269 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1328665912 CA381325595 |
270 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs572206716 CA381325744 |
273 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6111174 rs572206716 |
273 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6111173 rs747879288 |
273 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs776878287 CA6111175 |
276 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs547504014 CA223988509 |
277 | I>T | No |
ClinGen Ensembl |
|
|
rs1285787718 CA381325806 |
277 | I>V | No |
ClinGen gnomAD |
|
|
rs1444713881 CA381325824 |
278 | K>E | No |
ClinGen gnomAD |
|
|
CA381325885 rs1193113449 |
281 | P>R | No |
ClinGen gnomAD |
|
|
rs1024014882 CA223988514 |
281 | P>S | No |
ClinGen TOPMed |
|
|
rs1024014882 CA381325876 |
281 | P>T | No |
ClinGen TOPMed |
|
|
rs1591074082 CA381325899 |
282 | T>P | No |
ClinGen Ensembl |
|
|
rs1182170745 CA381325930 |
283 | T>I | No |
ClinGen gnomAD |
|
|
rs541113053 CA223988534 |
284 | C>G | No |
ClinGen 1000Genomes |
|
|
rs770003321 CA6111177 |
285 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA381325961 rs1160943377 |
285 | D>H | No |
ClinGen TOPMed |
|
|
rs202134820 CA6111179 |
286 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764122233 CA6111180 |
286 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs202134820 CA6111178 |
286 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA223988570 rs200665440 |
287 | Q>H | No |
ClinGen gnomAD |
|
|
rs1356578006 CA381326010 |
287 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1233041645 CA381326035 |
289 | V>M | No |
ClinGen gnomAD |
|
|
rs1187428648 CA381326078 |
291 | H>R | No |
ClinGen Ensembl |
|
|
rs1591074125 CA381326071 |
291 | H>Y | No |
ClinGen Ensembl |
|
|
CA6111181 rs773163294 |
295 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA381326166 rs1454492449 |
297 | G>D | No |
ClinGen gnomAD |
|
|
CA381326192 rs1332174952 |
299 | G>D | No |
ClinGen gnomAD |
|
|
rs760552963 CA6111182 |
300 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6111183 rs201828687 |
301 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1292925851 CA381326238 |
302 | K>N | No |
ClinGen Ensembl |
|
|
CA381326244 rs1280864553 |
303 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381326277 rs1488511259 |
305 | E>D | No |
ClinGen TOPMed |
|
|
CA223988597 rs182202105 |
305 | E>K | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs1207624752 CA381326282 |
306 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6111184 rs372807233 |
306 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754886560 CA6111185 |
307 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6111186 rs764969392 |
308 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA381326336 rs1347133321 |
310 | E>D | No |
ClinGen TOPMed |
|
|
CA6111187 rs752444161 |
311 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381326365 rs1419977241 |
313 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6111188 rs757948346 |
314 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381326398 rs1177307206 |
315 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA381326390 rs1469789865 |
315 | Q>P | No |
ClinGen gnomAD |
|
|
CA381326393 rs1469789865 |
315 | Q>R | No |
ClinGen gnomAD |
|
|
rs141691755 CA6111189 |
316 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747497514 CA6111191 |
318 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs967994490 CA223988665 |
320 | P>S | No |
ClinGen Ensembl |
|
|
rs781782286 CA6111193 |
322 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746222380 CA6111194 |
323 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6111196 rs775661636 |
324 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749544811 CA381326571 |
325 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6111198 rs377196811 |
325 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6111197 rs749544811 |
325 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774309970 CA6111199 |
326 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6111200 rs369593004 |
328 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255860330 CA381326716 |
332 | S>F | No |
ClinGen gnomAD |
|
|
rs1186924204 CA381326706 |
332 | S>P | No |
ClinGen gnomAD |
|
|
CA381326711 rs1255860330 |
332 | S>Y | No |
ClinGen gnomAD |
|
|
CA6111202 rs776766233 |
333 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs370386652 CA6111203 |
334 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381326742 rs1248833216 |
334 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 335 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381326750 rs1431553263 |
335 | A>T | No |
ClinGen gnomAD |
|
|
CA6111206 rs149614054 |
339 | E>D | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA6111209 rs762714936 |
340 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA223988920 rs890819670 |
341 | G>D | No |
ClinGen TOPMed |
|
|
CA381327623 rs1367096566 |
341 | G>R | No |
ClinGen gnomAD |
|
|
rs751278034 CA6111229 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373500922 CA6111228 |
344 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767048770 CA6111231 |
345 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6111232 rs748358163 |
346 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376330194 CA6111234 |
347 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754198204 CA6111235 |
347 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025938432 CA223988991 |
348 | G>V | No |
ClinGen TOPMed |
|
|
rs778980295 CA6111237 |
349 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6111240 rs772003602 |
351 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778018510 CA6111241 |
352 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA223989027 rs146793613 |
353 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1448449582 CA381327927 |
354 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6111242 rs148498838 |
355 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148498838 CA381327955 |
355 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6111244 rs775632471 |
357 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs768538496 CA6111246 |
358 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6111248 rs550124082 |
359 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381328086 rs1286610867 |
360 | T>I | No |
ClinGen gnomAD |
|
|
rs115991011 CA6111250 |
361 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766958736 CA6111249 |
361 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381328114 rs1018165761 |
362 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs760246700 COSM1356095 CA6111251 |
362 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA223989044 rs1018165761 |
362 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1227963933 CA381328128 |
363 | V>M | No |
ClinGen gnomAD |
|
|
rs766856912 CA6111252 |
364 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6111253 rs754417465 |
366 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381328232 rs754417465 |
366 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA381328321 rs1464403916 |
368 | M>T | No |
ClinGen gnomAD |
|
|
CA381328364 rs1212655248 |
369 | K>M | No |
ClinGen TOPMed |
|
|
rs151056885 CA6111256 |
371 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151056885 CA381328393 |
371 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558628134 CA6111257 |
371 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs201554107 CA223989098 |
372 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs201554107 CA381328428 |
372 | V>L | No |
ClinGen TOPMed |
|
|
rs201724508 CA6111259 |
374 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757465415 CA381328502 |
375 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379181683 CA381328509 |
375 | P>H | No |
ClinGen TOPMed |
|
|
CA6111260 rs757465415 |
375 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA679382263 rs1309212370 |
377 | P>S | No |
ClinGen TOPMed |
No associated diseases with P56202
5 regional properties for P56202
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Peptidase C1A, papain C-terminal | 128 - 362 | IPR000668 |
| domain | Cathepsin propeptide inhibitor domain (I29) | 42 - 99 | IPR013201 |
| active_site | Cysteine peptidase, histidine active site | 289 - 299 | IPR025660 |
| active_site | Cysteine peptidase, asparagine active site | 326 - 345 | IPR025661 |
| domain | Papain-like cysteine endopeptidase | 129 - 358 | IPR039417 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| 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. |
| 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. |
| platelet dense granule lumen | The volume enclosed by the membrane of the platelet dense granule. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cysteine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile. |
| cysteine-type peptidase activity | Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the sulfhydryl group of a cysteine residue at the active center acts as a nucleophile. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| proteolysis involved in protein catabolic process | The hydrolysis of a peptide bond or bonds within a protein as part of the chemical reactions and pathways resulting in the breakdown of a protein by individual cells. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43234 | CTSO | Cathepsin O | Homo sapiens (Human) | PR |
| P09668 | CTSH | Pro-cathepsin H | Homo sapiens (Human) | PR |
| Q9UJW2 | TINAG | Tubulointerstitial nephritis antigen | Homo sapiens (Human) | PR |
| Q8BM88 | Ctso | Cathepsin O | Mus musculus (Mouse) | PR |
| P56203 | Ctsw | Cathepsin W | Mus musculus (Mouse) | PR |
| P43296 | RD19A | Cysteine protease RD19A | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALTAHPSCL | LALLVAGLAQ | GIRGPLRAQD | LGPQPLELKE | AFKLFQIQFN | RSYLSPEEHA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HRLDIFAHNL | AQAQRLQEED | LGTAEFGVTP | FSDLTEEEFG | QLYGYRRAAG | GVPSMGREIR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SEEPEESVPF | SCDWRKVASA | ISPIKDQKNC | NCCWAMAAAG | NIETLWRISF | WDFVDVSVQE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLDCGRCGDG | CHGGFVWDAF | ITVLNNSGLA | SEKDYPFQGK | VRAHRCHPKK | YQKVAWIQDF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IMLQNNEHRI | AQYLATYGPI | TVTINMKPLQ | LYRKGVIKAT | PTTCDPQLVD | HSVLLVGFGS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VKSEEGIWAE | TVSSQSQPQP | PHPTPYWILK | NSWGAQWGEK | GYFRLHRGSN | TCGITKFPLT |
| 370 | |||||
| ARVQKPDMKP | RVSCPP |