Q15113
PR
Gene name |
PCOLCE (PCPE1) |
Protein name |
Procollagen C-endopeptidase enhancer 1 |
Names |
Procollagen COOH-terminal proteinase enhancer 1, PCPE-1, Procollagen C-proteinase enhancer 1, Type 1 procollagen C-proteinase enhancer protein, Type I procollagen COOH-terminal proteinase enhancer |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5118 |
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 Q15113
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1UAP | NMR | - | A | 313-442 | PDB |
| 6FZV | X-ray | 270 A | D | 26-278 | PDB |
| 6FZW | X-ray | 278 A | D | 26-278 | PDB |
| AF-Q15113-F1 | Predicted | AlphaFoldDB |
421 variants for Q15113
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4385436 rs777635725 |
2 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA368510032 rs1377472659 |
3 | P>L | No |
ClinGen gnomAD |
|
|
CA4385438 rs749126186 |
5 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs142421811 CA4385440 |
6 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4385439 rs142421811 |
6 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4385441 rs151268413 |
7 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368510050 rs1297485332 |
7 | A>T | No |
ClinGen TOPMed |
|
|
CA368510052 rs151268413 |
7 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368510054 rs1388199245 |
8 | S>P | No |
ClinGen gnomAD |
|
|
CA368510059 rs1301703209 |
9 | L>I | No |
ClinGen gnomAD |
|
|
CA4385442 rs768700568 |
12 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1383558682 CA368510077 |
12 | P>T | No |
ClinGen TOPMed |
|
|
rs1424432670 CA368510089 |
14 | L>F | No |
ClinGen TOPMed |
|
|
rs372249019 CA4385444 |
16 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368510106 rs1489577465 |
17 | C>R | No |
ClinGen gnomAD |
|
|
rs140507217 CA4385446 |
17 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1268626273 CA368510113 |
18 | A>S | No |
ClinGen gnomAD |
|
|
CA368510131 rs1490089000 |
21 | P>H | No |
ClinGen TOPMed |
|
|
rs1490089000 CA368510130 |
21 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 21 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751918507 CA4385449 |
24 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4385450 rs754666238 |
25 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752277482 CA4385452 |
28 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780672283 CA4385451 |
28 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4385454 rs777723624 |
29 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA368510181 rs1402896798 |
29 | N>S | No |
ClinGen gnomAD |
|
|
rs1356395725 CA368510198 |
32 | R>* | No |
ClinGen gnomAD |
|
|
CA368510222 rs1236186417 |
33 | P>R | No |
ClinGen TOPMed |
|
|
rs1285935854 CA368510260 |
39 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA163257629 rs150392369 |
39 | G>R | No |
ClinGen ESP TOPMed |
|
|
rs1275790893 CA368510270 |
41 | V>M | No |
ClinGen gnomAD |
|
|
rs138299603 CA4385474 |
42 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368510292 rs1227203640 |
44 | E>A | No |
ClinGen TOPMed |
|
|
rs778781618 CA4385475 |
44 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368510289 rs1202966402 |
44 | E>K | No |
ClinGen gnomAD |
|
|
CA368510307 rs1483924228 |
46 | G>V | No |
ClinGen gnomAD |
|
|
rs576732053 CA4385478 CA4385480 |
48 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4385479 rs576732053 |
48 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184034467 CA163257653 |
50 | S>N | No |
ClinGen 1000Genomes |
|
|
rs1170096086 CA368510356 |
54 | P>S | No |
ClinGen gnomAD |
|
|
rs1419954339 CA368510367 |
55 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368510370 rs1259139580 |
56 | L>F | No |
ClinGen gnomAD |
|
|
CA368510382 rs1450017782 |
58 | P>T | No |
ClinGen TOPMed |
|
|
CA4385485 rs759981784 |
59 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767765568 CA4385486 |
60 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1392179967 CA368510411 |
62 | E>A | No |
ClinGen TOPMed |
|
|
CA368510417 rs1380683039 |
63 | C>R | No |
ClinGen gnomAD |
|
|
rs188377464 CA4385487 |
64 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1298685822 CA368510431 |
65 | W>R | No |
ClinGen gnomAD |
|
|
COSM229067 rs1584440002 CA368510443 |
66 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs763668549 CA4385489 |
67 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4385488 rs760254816 |
67 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 68 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753375930 CA4385490 |
68 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756707728 CA4385491 |
68 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385510 rs764639634 |
69 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs749892934 CA4385511 |
70 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA368510473 rs1310868097 |
70 | P>S | No |
ClinGen gnomAD |
|
|
CA368510503 rs1281813305 |
74 | T>I | No |
ClinGen gnomAD |
|
|
CA163258111 rs766303687 |
75 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385513 rs766303687 |
75 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385514 rs751335726 |
76 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368510541 rs751472246 COSM345868 |
78 | S>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA368510537 rs1279567405 |
78 | S>A | No |
ClinGen gnomAD |
|
|
rs751472246 CA163258115 |
78 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs913610235 CA163258120 |
79 | F>L | No |
ClinGen TOPMed |
|
|
CA368510561 rs1309155755 |
80 | R>Q | No |
ClinGen gnomAD |
|
|
rs754105557 CA4385517 |
83 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1483961210 CA368510603 |
84 | L>V | No |
ClinGen gnomAD |
|
|
CA368510610 rs1363295091 |
85 | E>* | No |
ClinGen gnomAD |
|
|
rs778869920 CA4385519 |
86 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4385521 rs370892202 |
87 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA4385522 rs780560089 |
88 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4385524 rs558587040 |
89 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1187392 rs558587040 CA4385523 |
89 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA368510657 rs1328851327 |
89 | A>V | No |
ClinGen gnomAD |
|
|
CA368510674 rs1439445755 |
91 | R>S | No |
ClinGen gnomAD |
|
|
rs372206541 CA4385525 |
93 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA163258161 rs946335844 |
94 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4385527 rs576889928 |
98 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4385528 rs772631901 |
99 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA368510773 rs762478852 |
100 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762478852 CA4385529 |
100 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs924967319 CA163258187 |
101 | S>A | No |
ClinGen Ensembl |
|
|
rs751515996 CA368510791 |
102 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385531 rs751515996 |
102 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368510794 rs1584440435 |
103 | T>P | No |
ClinGen Ensembl |
|
|
CA4385532 rs759466802 |
103 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs767403163 CA4385533 |
104 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 107 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 107 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4385537 rs750489948 |
109 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA368510865 rs1451456098 |
110 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1312533752 CA368510904 |
113 | G>V | No |
ClinGen gnomAD |
|
|
rs1327954694 CA368510910 |
114 | T>N | No |
ClinGen gnomAD |
|
|
CA368510921 rs1227931249 |
115 | F>Y | No |
ClinGen gnomAD |
|
|
rs912814763 CA163258220 |
116 | R>Q | No |
ClinGen Ensembl |
|
|
rs780465700 CA4385539 |
116 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA368510946 rs1205491945 |
118 | A>P | No |
ClinGen gnomAD |
|
|
rs747502040 CA4385540 |
118 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1250179696 CA368510962 |
119 | P>L | No |
ClinGen gnomAD |
|
|
CA4385542 rs781543336 |
119 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1429371649 CA368510990 |
123 | P>S | No |
ClinGen gnomAD |
|
|
rs748474807 CA4385543 |
124 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA368511011 rs769356496 |
125 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385544 rs769356496 |
125 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368511018 rs1177870015 |
126 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437708625 CA368511045 |
128 | T>S | No |
ClinGen gnomAD |
|
|
rs144063020 CA4385547 |
129 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1386625866 CA368511073 |
131 | M>V | No |
ClinGen gnomAD |
|
|
rs560186990 CA163258230 |
132 | T>R | No |
ClinGen Ensembl |
|
|
CA368511097 rs1382453805 |
133 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs899984846 CA163258234 |
134 | D>A | No |
ClinGen gnomAD |
|
|
rs759556507 CA4385550 |
134 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368511109 rs1324540501 |
134 | D>H | No |
ClinGen gnomAD |
|
|
rs1324540501 CA368511111 |
134 | D>N | No |
ClinGen gnomAD |
|
|
rs1322875738 CA368511122 |
135 | E>* | No |
ClinGen gnomAD |
|
|
CA163258241 rs995572251 |
136 | G>D | No |
ClinGen TOPMed |
|
|
CA368511130 rs1262590826 |
136 | G>S | No |
ClinGen gnomAD |
|
|
CA368511154 rs1260077880 |
138 | G>R | No |
ClinGen gnomAD |
|
|
CA368511162 rs1435337969 |
139 | G>* | No |
ClinGen gnomAD |
|
|
CA368511171 rs1200752349 |
139 | G>E | No |
ClinGen gnomAD |
|
|
CA368511165 rs1435337969 |
139 | G>R | No |
ClinGen gnomAD |
|
|
CA368511176 rs1429248964 |
140 | R>Q | No |
ClinGen gnomAD |
|
|
rs574137629 CA4385552 |
141 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574137629 CA368511182 |
141 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1335909217 CA368511193 |
142 | F>V | No |
ClinGen TOPMed |
|
|
CA4385554 rs373721463 |
144 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1322317438 CA368511221 |
144 | L>P | No |
ClinGen TOPMed |
|
|
rs1322317438 CA368511219 |
144 | L>R | No |
ClinGen TOPMed |
|
|
rs572147250 CA368511267 |
148 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572147250 CA4385558 |
148 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755511553 CA4385559 |
149 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755511553 CA368511276 |
149 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs141208642 CA4385561 |
151 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1317664093 CA368511311 |
153 | G>A | No |
ClinGen gnomAD |
|
|
CA368511307 rs1309149353 |
153 | G>S | No |
ClinGen gnomAD |
|
|
rs1238584223 CA368511316 |
154 | T>I | No |
ClinGen gnomAD |
|
|
CA163258300 rs1142300 |
154 | T>S | No |
ClinGen Ensembl |
|
|
CA368511317 rs1259232704 |
155 | E>K | No |
ClinGen gnomAD |
|
|
rs369527987 CA4385593 |
156 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368511721 rs1402663590 |
160 | G>W | No |
ClinGen gnomAD |
|
|
CA4385598 rs767576015 |
161 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA368511726 CA4385597 rs759682787 |
161 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs767576015 CA368511728 |
161 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs761254301 | 162 | R>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368511732 rs1325212037 |
162 | R>Q | No |
ClinGen TOPMed |
|
|
CA368511745 rs1223450485 |
164 | E>D | No |
ClinGen gnomAD |
|
|
CA368511742 rs1346637661 |
164 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs139088599 CA4385600 |
164 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139088599 CA4385601 |
164 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189420753 CA368511747 |
165 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4385602 rs561838494 |
166 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225094011 CA368511772 |
168 | G>V | No |
ClinGen gnomAD |
|
|
CA4385605 rs750094971 |
171 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1270797150 CA368511792 |
172 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368511794 rs1270797150 |
172 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA368511793 rs1270797150 |
172 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368511797 rs1198691645 |
173 | P>S | No |
ClinGen gnomAD |
|
|
rs746462317 CA368511807 |
174 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779620598 CA4385607 |
174 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1159334094 CA368511810 |
175 | W>G | No |
ClinGen gnomAD |
|
|
CA4385609 rs768662934 |
176 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA368511824 rs1165793987 |
177 | E>K | No |
ClinGen gnomAD |
|
|
CA368511822 rs1165793987 |
177 | E>Q | No |
ClinGen gnomAD |
|
|
CA368511835 rs1366583115 |
178 | S>F | No |
ClinGen gnomAD |
|
|
rs1443696815 CA368511855 |
181 | P>H | No |
ClinGen gnomAD |
|
|
CA368511852 rs1328818513 |
181 | P>T | No |
ClinGen gnomAD |
|
|
CA368511861 rs546504232 |
182 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs546504232 CA163259345 |
182 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4385613 rs546504232 |
182 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs766866388 | 182 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564504859 CA4385615 |
183 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866365483 CA163259394 |
188 | W>* | No |
ClinGen Ensembl |
|
|
rs775666514 CA4385617 |
189 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs764707706 CA4385619 |
190 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs760620307 CA4385618 |
190 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1302077070 CA368511920 |
191 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 191 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754266739 CA4385621 |
192 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 193 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368511931 rs1424475052 |
193 | P>R | No |
ClinGen gnomAD |
|
|
CA4385622 rs762333442 |
193 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368511937 rs1399204443 |
194 | P>R | No |
ClinGen gnomAD |
|
|
rs1328869968 CA368511949 |
196 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA163259451 rs758156739 CA4385625 |
196 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368511952 rs1375603149 |
196 | Q>L | No |
ClinGen gnomAD |
|
|
CA368511972 rs1416861109 |
198 | I>F | No |
ClinGen TOPMed |
|
|
rs1409535767 CA368511981 |
199 | A>E | No |
ClinGen TOPMed |
|
|
CA4385650 rs749134078 |
200 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 203 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163259935 rs970181267 |
203 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA368512015 rs747185954 |
204 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368512013 rs1338264691 |
204 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163259944 rs201385704 |
205 | F>V | No |
ClinGen Ensembl |
|
|
rs768865593 CA4385654 |
206 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768865593 CA163259953 |
206 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA163259969 rs267601179 |
208 | E>K | No |
ClinGen Ensembl |
|
|
rs1351707783 CA368512046 |
209 | P>L | No |
ClinGen gnomAD |
|
|
CA163259970 rs980171208 |
209 | P>S | No |
ClinGen gnomAD |
|
|
CA163259971 rs569304915 |
210 | D>V | No |
ClinGen 1000Genomes |
|
|
rs368766319 CA368512066 |
212 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1260433155 CA368512062 |
212 | Y>D | No |
ClinGen TOPMed |
|
|
rs1261495059 CA368512063 |
212 | Y>S | No |
ClinGen gnomAD |
|
|
CA4385657 rs149817301 |
214 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA163259986 rs867279717 |
214 | R>S | No |
ClinGen Ensembl |
|
|
CA368512099 rs145818954 |
217 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4385658 rs145818954 |
217 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145818954 CA368512100 |
217 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4385659 rs763475584 |
218 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA368512112 rs370647091 |
219 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA368512118 rs1306245249 |
220 | V>A | No |
ClinGen TOPMed |
|
|
CA368512131 rs1454009729 |
222 | N>H | No |
ClinGen gnomAD |
|
|
rs148943230 CA4385661 |
224 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148943230 CA163260011 |
224 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4385662 rs759111446 |
224 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767162361 CA4385663 |
225 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1406682184 CA368512163 |
225 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA368512160 rs1406682184 |
225 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA163260016 rs993819755 |
226 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1366961272 CA368512184 |
227 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 230 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368512226 rs1562827334 |
231 | R>G | No |
ClinGen Ensembl |
|
|
CA163260035 rs945259356 |
231 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 231 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA163260037 rs552487413 |
233 | G>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4385664 rs752230696 |
233 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA163260038 rs552487413 |
233 | G>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4385665 rs755601629 |
235 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1223845044 CA368512293 |
237 | G>R | No |
ClinGen gnomAD |
|
|
rs764061129 CA4385666 |
239 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs900987237 CA163260046 |
240 | V>A | No |
ClinGen gnomAD |
|
|
CA368512322 rs1393258661 |
240 | V>I | No |
ClinGen TOPMed |
|
|
rs1433637735 CA368512337 |
241 | P>L | No |
ClinGen TOPMed |
|
|
CA368512329 rs1195423224 |
241 | P>T | No |
ClinGen TOPMed |
|
|
rs1188892296 CA368512345 |
242 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA368512347 rs1188892296 |
242 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1236663992 CA368512406 |
244 | I>F | No |
ClinGen gnomAD |
|
|
CA4385683 rs763582889 |
245 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA368512434 rs1311171808 |
247 | E>A | No |
ClinGen TOPMed |
|
|
rs761662226 CA4385685 |
247 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761662226 CA368512431 |
247 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368512438 rs1424200440 |
248 | G>R | No |
ClinGen gnomAD |
|
|
rs750234727 CA4385687 |
251 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs758180510 CA4385688 |
252 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758180510 CA4385689 |
252 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368512487 rs1357758391 |
253 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368512521 rs142869335 |
255 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4385693 rs749344726 |
256 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA163260589 rs113851049 |
258 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA368512589 rs1584442039 |
262 | T>P | No |
ClinGen Ensembl |
|
|
rs775183013 CA4385698 |
263 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 268 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277524883 CA368512665 |
268 | A>V | No |
ClinGen gnomAD |
|
|
CA4385699 rs760334881 |
269 | S>P | No |
ClinGen ExAC |
|
|
CA368512699 rs1217616705 |
272 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1584442048 CA368512694 |
272 | T>P | No |
ClinGen Ensembl |
|
|
CA4385701 rs142335229 |
274 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4385702 rs142335229 |
274 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4385706 rs112285224 |
275 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750369223 CA4385704 |
275 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385707 rs751329942 |
276 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA4385708 rs756432344 |
278 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs267601180 CA4385709 |
279 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA368512757 rs1440663916 |
280 | E>Q | No |
ClinGen TOPMed |
|
|
rs1418391365 CA368512796 |
283 | G>E | No |
ClinGen gnomAD |
|
|
CA4385710 rs753918290 |
283 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1157408830 CA368512801 |
284 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4385712 rs779358807 |
285 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385713 rs371402171 |
286 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA368512835 rs1393350741 |
287 | K>R | No |
ClinGen TOPMed |
|
|
rs1364978728 CA368512844 |
288 | R>Q | No |
ClinGen gnomAD |
|
|
rs772512800 CA4385714 |
288 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4385716 rs747335796 |
289 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368512851 rs375368034 CA4385715 |
289 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1334386393 CA368512858 |
290 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA368512873 rs1293810736 |
291 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4385717 rs768850973 |
293 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA163260709 rs985332777 |
293 | K>R | No |
ClinGen Ensembl |
|
|
rs776316262 CA4385718 |
294 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs138180614 CA4385720 |
295 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772537881 CA4385722 |
297 | P>S | No |
ClinGen ExAC gnomAD |
|
| rs755349242 | 299 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4385727 rs180706003 |
299 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs755349242 | 299 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754088550 CA368512988 |
302 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA4385728 rs754088550 |
302 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757343252 CA4385729 |
303 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309586275 CA368513009 |
304 | E>D | No |
ClinGen gnomAD |
|
|
rs922260284 CA163260787 |
304 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 306 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750404773 CA4385731 |
308 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA163260791 rs750869837 |
308 | E>K | No |
ClinGen Ensembl |
|
|
rs1316914510 CA368513066 |
309 | S>C | No |
ClinGen gnomAD |
|
|
rs1045820215 CA163260826 |
312 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs926932445 CA163260827 |
313 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs926932445 CA368513099 |
313 | P>S | No |
ClinGen gnomAD |
|
|
rs923475487 CA163261393 |
316 | P>S | No |
ClinGen TOPMed |
|
|
rs923475487 CA368513148 |
316 | P>T | No |
ClinGen TOPMed |
|
|
rs781622856 CA4385754 |
319 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs755379896 CA4385753 |
319 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763716897 CA4385755 |
321 | Q>L | No |
ClinGen ExAC TOPMed |
|
|
CA163261405 rs763716897 |
321 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
CA4385756 rs755810563 |
322 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs777264797 CA4385757 |
323 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385758 rs150129229 |
323 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138588201 CA4385760 |
324 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757006823 CA4385759 |
324 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368522083 CA4385762 |
326 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149309227 CA4385763 |
327 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4385764 rs760338506 |
328 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770105021 CA4385765 |
330 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA368513251 rs1200407740 |
332 | F>L | No |
ClinGen gnomAD |
|
|
CA368513253 rs1584442515 |
333 | C>R | No |
ClinGen Ensembl |
|
|
rs1360206811 CA368513262 |
334 | A>S | No |
ClinGen TOPMed |
|
|
CA368513265 rs1377790619 |
334 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA368513279 rs1465246140 |
336 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 338 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4385780 rs772071475 |
339 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA368513325 rs1365612321 |
340 | T>A | No |
ClinGen gnomAD |
|
|
rs199736289 CA4385781 |
341 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368513343 rs1385288833 |
342 | T>P | No |
ClinGen gnomAD |
|
|
CA368513355 rs1311787241 |
343 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768322304 CA4385783 |
346 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs776352234 CA4385784 |
347 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368513412 rs771099809 |
348 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs771099809 CA4385786 |
348 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763164366 CA4385785 |
348 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs774433442 CA4385787 |
350 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385788 rs774433442 |
350 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385790 rs768105213 |
351 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753137213 CA4385791 |
354 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385793 rs764571033 |
355 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385792 rs376261914 |
355 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764571033 CA368513482 |
355 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4385795 rs370299334 |
356 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4385796 rs764936666 |
357 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749999227 CA4385797 |
358 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1348909793 CA368513520 |
359 | S>G | No |
ClinGen TOPMed |
|
|
rs1401226162 CA368513530 |
359 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA368513543 rs1385863671 |
360 | L>P | No |
ClinGen TOPMed |
|
|
CA163261599 rs996943116 |
361 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1312584893 CA368513565 |
362 | G>S | No |
ClinGen gnomAD |
|
|
rs1452647773 CA368513619 |
367 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA368513642 rs1230863655 |
368 | G>E | No |
ClinGen gnomAD |
|
|
CA163261616 rs1029888576 |
372 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 373 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs955645778 CA163261639 |
374 | P>L | No |
ClinGen TOPMed |
|
|
rs747886014 CA4385803 |
375 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368513778 rs1255321651 |
377 | G>D | No |
ClinGen gnomAD |
|
|
CA4385805 rs142327464 |
378 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424505665 CA368513840 |
383 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs772035987 CA4385807 |
384 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs202051372 CA4385808 |
385 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 386 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449150552 CA368513886 |
387 | K>R | No |
ClinGen gnomAD |
|
|
rs1285315422 CA368513911 |
389 | C>Y | No |
ClinGen TOPMed |
|
|
rs556658822 CA4385811 |
391 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA368513945 rs1279530666 |
391 | P>R | No |
ClinGen gnomAD |
|
|
rs556658822 CA4385813 |
391 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556658822 CA4385812 |
391 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs777844367 | 392 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777844367 | 392 | M>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765812003 CA368513962 |
392 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs113417384 CA163261698 |
392 | M>L | No |
ClinGen Ensembl |
|
|
CA4385817 rs765812003 |
392 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA163261692 rs113417384 |
392 | M>V | No |
ClinGen Ensembl |
|
|
rs1562828243 CA368513978 |
393 | K>R | No |
ClinGen Ensembl |
|
|
rs1270402952 CA368513994 |
394 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1190883805 CA368514053 |
397 | S>T | No |
ClinGen gnomAD |
|
|
rs1393627769 CA368514064 |
398 | Y>C | No |
ClinGen gnomAD |
|
|
CA4385831 rs762337205 |
400 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs765709076 CA4385832 |
401 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 402 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368514116 rs1562828293 |
403 | Q>H | No |
ClinGen Ensembl |
|
|
rs868234072 CA163261858 |
404 | V>A | No |
ClinGen TOPMed |
|
|
rs1329412732 CA368514135 |
405 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA163261863 rs372826849 |
407 | N>D | No |
ClinGen ESP TOPMed |
|
|
CA4385834 CA368514165 rs141578594 |
407 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4385836 rs35142716 |
409 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766006564 CA4385835 |
409 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs35142716 CA368514182 |
409 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA368514199 rs1241976722 |
411 | V>D | No |
ClinGen gnomAD |
|
|
CA4385838 rs200657795 |
411 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs752615024 CA4385839 |
413 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA368514226 rs1217063832 |
414 | P>S | No |
ClinGen gnomAD |
|
|
CA368514235 rs1352896546 |
415 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 415 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755990485 CA4385840 |
417 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs199764794 CA4385841 |
420 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4385842 rs199764794 |
420 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs112685211 CA4385845 |
422 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780300854 CA4385844 |
422 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357509516 CA368514319 |
423 | P>H | No |
ClinGen gnomAD |
|
|
rs781779484 CA4385847 |
423 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4385849 rs770293237 |
425 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs375476188 CA4385850 |
426 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 427 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA368514386 rs1405402887 |
428 | I>T | No |
ClinGen gnomAD |
|
|
CA4385852 rs770525849 |
431 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA368514444 rs1562828364 |
433 | S>N | No |
ClinGen Ensembl |
|
|
CA4385853 rs774044086 |
434 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs767024429 CA4385855 |
436 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA368514512 rs1439898854 |
439 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1801804 CA163261972 |
439 | S>P | No |
ClinGen Ensembl |
|
|
rs1584442917 CA368514527 |
440 | Q>H | No |
ClinGen Ensembl |
|
|
rs891290121 CA163261976 |
442 | V>L | No |
ClinGen TOPMed |
|
|
CA4385858 rs140841091 |
443 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117595600 CA4385857 |
443 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000962912 CA4385859 rs61739556 |
444 | A>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA368514569 rs1327688526 |
444 | A>V | No |
ClinGen TOPMed |
|
|
rs1320259402 CA368514598 COSM1643185 |
446 | A>V | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs549660107 CA163261994 |
450 | D>R | No |
ClinGen 1000Genomes |
No associated diseases with Q15113
5 regional properties for Q15113
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CUB domain | 37 - 149 | IPR000859-1 |
| domain | CUB domain | 159 - 273 | IPR000859-2 |
| domain | Netrin domain | 318 - 437 | IPR001134 |
| domain | Netrin module, non-TIMP type | 329 - 435 | IPR018933 |
| domain | Procollagen C-endopeptidase enhancer, NTR domain | 313 - 437 | IPR035814 |
3 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| collagen binding | Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| heparin binding | Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
| peptidase activator activity | Binds to and increases the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| collagen biosynthetic process | The chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8NC67 | NETO2 | Neuropilin and tolloid-like protein 2 | Homo sapiens (Human) | PR |
| Q9UKZ9 | PCOLCE2 | Procollagen C-endopeptidase enhancer 2 | Homo sapiens (Human) | PR |
| Q61398 | Pcolce | Procollagen C-endopeptidase enhancer 1 | Mus musculus (Mouse) | PR |
| O08628 | Pcolce | Procollagen C-endopeptidase enhancer 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLPAATASLL | GPLLTACALL | PFAQGQTPNY | TRPVFLCGGD | VKGESGYVAS | EGFPNLYPPN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KECIWTITVP | EGQTVSLSFR | VFDLELHPAC | RYDALEVFAG | SGTSGQRLGR | FCGTFRPAPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VAPGNQVTLR | MTTDEGTGGR | GFLLWYSGRA | TSGTEHQFCG | GRLEKAQGTL | TTPNWPESDY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PPGISCSWHI | IAPPDQVIAL | TFEKFDLEPD | TYCRYDSVSV | FNGAVSDDSR | RLGKFCGDAV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PGSISSEGNE | LLVQFVSDLS | VTADGFSASY | KTLPRGTAKE | GQGPGPKRGT | EPKVKLPPKS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QPPEKTEESP | SAPDAPTCPK | QCRRTGTLQS | NFCASSLVVT | ATVKSMVREP | GEGLAVTVSL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IGAYKTGGLD | LPSPPTGASL | KFYVPCKQCP | PMKKGVSYLL | MGQVEENRGP | VLPPESFVVL |
| 430 | 440 | ||||
| HRPNQDQILT | NLSKRKCPSQ | PVRAAASQD |