Q9UKZ9
PR
Gene name |
PCOLCE2 (PCPE2, UNQ250/PRO287) |
Protein name |
Procollagen C-endopeptidase enhancer 2 |
Names |
Procollagen COOH-terminal proteinase enhancer 2, PCPE-2, Procollagen C-proteinase enhancer 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26577 |
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 Q9UKZ9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UKZ9-F1 | Predicted | AlphaFoldDB |
355 variants for Q9UKZ9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs139818603 RCV002777519 CA2652106 |
223 | D>N | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA354839213 rs202134327 |
2 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754447181 CA354839210 |
2 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652334 rs754447181 |
2 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652333 rs764665094 |
6 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652332 rs761047304 |
6 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA84804850 rs951282175 |
7 | W>C | No |
ClinGen TOPMed |
|
|
rs1560144680 CA354839182 |
7 | W>R | No |
ClinGen Ensembl |
|
|
CA354839174 rs1338618827 |
8 | A>T | No |
ClinGen gnomAD |
|
|
rs771978921 CA2652329 |
9 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1305750952 CA354839162 |
10 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2652325 rs749049252 |
11 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652326 rs530947479 |
11 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368648610 CA2652324 |
13 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2652323 rs769742187 |
14 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2652322 rs747981037 |
15 | A>V | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs780762512 CA2652321 |
19 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs777136521 CA84804751 |
21 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA354839097 rs1319116703 |
22 | R>G | No |
ClinGen gnomAD |
|
|
CA2652320 rs754444514 |
23 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs915782961 CA84804731 |
26 | P>S | No |
ClinGen Ensembl |
|
|
CA2652319 rs751285871 |
27 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2652307 rs773008597 |
32 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA2652306 rs769413675 |
33 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2652305 rs200265284 |
34 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 36 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84803891 rs201267277 |
36 | I>T | No |
ClinGen 1000Genomes |
|
|
rs957240834 CA84803875 |
39 | G>E | No |
ClinGen TOPMed |
|
|
rs1578055058 CA354838900 |
41 | S>Y | No |
ClinGen Ensembl |
|
|
CA354838888 rs1437804748 |
42 | G>E | No |
ClinGen gnomAD |
|
|
rs1386998933 CA354838830 CA354838832 |
46 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354838782 rs1295961965 |
50 | P>S | No |
ClinGen TOPMed |
|
|
CA84803859 rs1032798424 |
51 | G>E | No |
ClinGen gnomAD |
|
|
rs746472336 CA2652300 |
52 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs746472336 CA354838755 |
52 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2652301 rs768262538 |
52 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354838727 rs1345245643 |
54 | P>H | No |
ClinGen TOPMed |
|
|
rs1222087380 CA354838713 |
55 | P>L | No |
ClinGen TOPMed |
|
|
CA2652297 rs745446258 |
56 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA354838698 rs1451104424 |
56 | N>K | No |
ClinGen gnomAD |
|
|
CA354838690 rs1246057555 |
57 | S>N | No |
ClinGen gnomAD |
|
|
CA2652296 rs778349443 |
58 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs756419140 CA2652295 |
59 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA2652261 rs1553815232 |
65 | V>G | No |
ClinGen Ensembl |
|
|
rs775554921 CA2652260 |
66 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2652257 rs770509532 |
67 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652256 rs770509532 |
67 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84779295 rs569272508 |
70 | V>L | No |
ClinGen Ensembl |
|
|
rs748909749 CA2652255 |
72 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747577646 CA354836112 |
74 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA2652252 rs747577646 |
74 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1560135024 CA354836097 |
74 | N>K | No |
ClinGen Ensembl |
|
|
CA84779277 rs917519830 |
74 | N>S | No |
ClinGen Ensembl |
|
|
rs1383648695 CA354836086 |
75 | F>C | No |
ClinGen TOPMed |
|
|
rs373201044 CA2652251 |
76 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2652250 rs143959509 |
76 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3408302 CA2652249 rs143959509 |
76 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1352091554 CA354836068 |
77 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2652247 rs41267847 |
78 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2652248 rs41267847 |
78 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354836029 rs1408145199 |
79 | D>V | No |
ClinGen gnomAD |
|
|
CA84779256 rs956193292 |
80 | L>F | No |
ClinGen Ensembl |
|
|
CA2652244 rs760523969 |
81 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1303991907 CA354836000 |
81 | E>K | No |
ClinGen gnomAD |
|
|
rs1162478767 CA354835959 |
82 | S>R | No |
ClinGen gnomAD |
|
|
CA2652243 rs752721834 |
82 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs767590952 CA2652242 |
83 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2652241 rs759493410 |
84 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs200433586 CA2652239 |
87 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200433586 CA2652240 |
87 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762581941 COSM205568 CA2652238 |
87 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA354835851 rs1191436584 |
88 | Y>C | No |
ClinGen gnomAD |
|
|
rs537602842 CA2652237 |
88 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2652236 rs769061409 |
89 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA354835839 rs1578038531 |
89 | D>N | No |
ClinGen Ensembl |
|
|
CA84779133 rs897195384 |
90 | F>L | No |
ClinGen TOPMed |
|
|
CA2652235 rs747346478 |
92 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | D>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2652232 rs374060736 |
93 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2652234 rs200603685 |
93 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200603685 CA2652233 |
93 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778865512 CA2652231 |
94 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354835457 rs1226586187 |
95 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2652229 rs749519201 |
96 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756364642 CA2652227 |
98 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354835357 rs1291558546 |
99 | N>D | No |
ClinGen gnomAD |
|
|
rs41267845 CA2652223 |
102 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2652221 rs762505464 |
102 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2652222 rs762505464 |
102 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2652224 rs41267845 |
102 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2652220 rs369893796 |
103 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139562886 CA84779053 |
103 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs147227072 CA2652219 |
105 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2652218 rs375923649 |
107 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202177059 CA2652215 |
111 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751653213 CA2652216 |
111 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2652214 rs774897446 |
112 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354835069 rs1256641663 |
113 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA354835062 rs1212404410 |
114 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs547465850 CA84779017 COSM581754 |
114 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
rs770956817 CA2652212 |
116 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA354835007 rs1218369796 |
119 | G>D | No |
ClinGen gnomAD |
|
|
rs749416279 CA2652211 |
120 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA84778997 rs143728484 |
121 | K>E | No |
ClinGen ESP |
|
|
CA354834984 rs1432771965 |
122 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA354834918 rs1387882907 |
131 | N>S | No |
ClinGen gnomAD |
|
|
CA2652209 rs756414036 |
133 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2652208 rs781197401 |
134 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781197401 CA2652207 |
134 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652206 rs754792836 |
135 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371577615 CA2652204 |
138 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751503261 CA2652205 |
138 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1187119983 CA354834860 |
140 | M>I | No |
ClinGen gnomAD |
|
|
rs368036692 CA2652203 |
140 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560134908 CA354834844 |
142 | S>F | No |
ClinGen Ensembl |
|
|
rs376768304 CA2652201 |
143 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1388230944 CA354834835 |
144 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 145 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354834816 rs1183606069 |
147 | N>Y | No |
ClinGen gnomAD |
|
|
CA2652200 rs761462363 |
148 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354834773 rs1206179508 COSM268330 |
149 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs188811245 CA2652164 |
151 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs188811245 CA84775421 |
151 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1415112915 CA354832746 |
152 | Q>* | No |
ClinGen gnomAD |
|
|
CA354832717 rs757144606 |
152 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372919786 CA84775414 |
152 | Q>R | No |
ClinGen ESP TOPMed |
|
|
rs1402566204 CA354832654 |
154 | C>R | No |
ClinGen gnomAD |
|
|
rs1171058463 CA354832589 |
156 | G>R | No |
ClinGen gnomAD |
|
|
CA2652160 rs147460166 |
157 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354832535 rs1189032845 |
158 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA84775391 rs1044997192 |
159 | D>G | No |
ClinGen Ensembl |
|
|
rs1578035990 CA354832456 |
161 | P>R | No |
ClinGen Ensembl |
|
|
rs774351236 CA2652159 |
161 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464442258 CA354832451 |
162 | S>A | No |
ClinGen gnomAD |
|
|
rs141390654 CA2652157 |
163 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766822878 CA84775356 |
163 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766822878 CA2652158 |
163 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768791703 CA84775349 |
164 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354832338 rs1560133743 |
167 | T>N | No |
ClinGen Ensembl |
|
| TCGA novel | 169 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1052292703 CA84775345 |
170 | W>C | No |
ClinGen Ensembl |
|
|
CA2652156 rs751011403 |
172 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs762365871 CA354832263 |
173 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84775330 rs935044051 |
173 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762365871 CA2652155 |
173 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84775326 rs925061647 |
174 | D>E | No |
ClinGen Ensembl |
|
|
CA2652153 rs776789176 |
176 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA354832202 rs1448788187 |
177 | A>E | No |
ClinGen gnomAD |
|
|
CA2652152 rs185089157 |
178 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761025963 CA2652151 |
179 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414375928 CA354832137 |
182 | V>A | No |
ClinGen gnomAD |
|
|
rs1195152606 CA354832116 |
184 | H>N | No |
ClinGen TOPMed |
|
|
rs979467962 CA84775292 |
185 | I>M | No |
ClinGen gnomAD |
|
|
CA2652149 rs771952966 |
185 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1417234007 CA354832082 |
186 | V>A | No |
ClinGen gnomAD |
|
|
rs745693544 CA354832080 COSM1536662 |
187 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2652148 rs745693544 |
187 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472819901 CA354832076 |
187 | A>V | No |
ClinGen gnomAD |
|
|
rs1252169846 CA354832063 COSM1039466 |
189 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs202225765 CA2652147 |
189 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 190 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770868528 CA2652146 |
190 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs770704835 CA2652128 |
192 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354831388 rs1479477094 |
193 | I>M | No |
ClinGen gnomAD |
|
|
rs1225737050 CA354831381 |
194 | E>D | No |
ClinGen TOPMed |
|
|
CA354831382 rs1232643477 |
194 | E>V | No |
ClinGen gnomAD |
|
|
CA354831331 rs1578034294 |
201 | D>H | No |
ClinGen Ensembl |
|
|
rs1453763838 CA354831327 |
201 | D>V | No |
ClinGen gnomAD |
|
|
CA2652125 rs772997483 |
203 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652124 rs143280691 |
204 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1693556 rs149199107 CA2652123 |
204 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs780707388 CA2652122 |
205 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA354831307 rs1226751407 |
205 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2652121 rs568798203 |
206 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2652120 rs75250083 |
207 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652119 rs758681084 |
209 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA354831277 rs138409602 COSM728948 |
209 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2652118 rs138409602 |
209 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA546589913 rs1388679143 |
210 | Y>* | No |
ClinGen gnomAD |
|
|
CA2652117 rs754419337 |
210 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354831265 rs1199925647 |
211 | D>G | No |
ClinGen TOPMed |
|
|
CA354831269 rs1281908625 |
211 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA354831252 rs1416879871 |
213 | V>L | No |
ClinGen gnomAD |
|
|
rs756592505 CA2652115 |
214 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA84773073 rs955398784 |
215 | V>G | No |
ClinGen Ensembl |
|
|
CA354831227 rs1192134602 |
215 | V>L | No |
ClinGen gnomAD |
|
|
rs79149384 CA84773068 |
217 | N>Y | No |
ClinGen Ensembl |
|
|
CA354831199 rs1479240974 |
218 | G>S | No |
ClinGen gnomAD |
|
|
CA2652113 rs138327430 |
219 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354831166 rs1171871137 |
220 | E>* | No |
ClinGen TOPMed |
|
|
rs774539204 CA2652110 |
220 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2652112 rs199734877 |
220 | E>G | No |
ClinGen ExAC |
|
|
rs762622483 CA2652109 |
221 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA2652108 rs762622483 |
221 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 225 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84773035 rs993779735 |
225 | R>T | No |
ClinGen TOPMed |
|
|
CA354831077 rs1279678838 |
226 | R>K | No |
ClinGen gnomAD |
|
|
rs1219566544 CA354831070 |
226 | R>S | No |
ClinGen gnomAD |
|
|
rs761756005 CA2652105 |
227 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354831050 rs1407092951 |
228 | G>A | No |
ClinGen TOPMed |
|
|
CA354831053 rs1301022172 |
228 | G>R | No |
ClinGen gnomAD |
|
|
CA2652104 rs373784176 |
229 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2652103 rs768278174 |
230 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354830974 rs779831214 |
233 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765376948 CA2652102 |
233 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1368081860 CA354830968 |
234 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1368081860 CA354830970 |
234 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771464785 CA2652100 |
235 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1176394910 CA354830939 |
236 | P>S | No |
ClinGen gnomAD |
|
|
rs532109090 COSM3408301 CA2652099 |
237 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 238 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270508479 CA354838199 |
239 | I>T | No |
ClinGen TOPMed |
|
|
rs1252966972 CA354838204 |
239 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1243289460 CA354838195 |
240 | V>E | No |
ClinGen TOPMed |
|
|
CA2652079 rs140721173 |
240 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs928971106 CA84797619 |
241 | S>F | No |
ClinGen Ensembl |
|
|
rs1560130801 CA354838181 |
242 | E>D | No |
ClinGen Ensembl |
|
|
CA84797612 rs770627413 |
243 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 245 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84797607 rs868234131 |
245 | E>K | No |
ClinGen Ensembl |
|
|
CA84797601 rs746686126 |
247 | L>F | No |
ClinGen TOPMed |
|
|
CA2652077 rs146863701 |
248 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770176905 CA2652078 |
248 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755436146 CA2652075 |
249 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2652076 rs781639031 |
249 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372759643 CA354838126 |
251 | L>* | No |
ClinGen gnomAD |
|
|
CA354838104 rs1560130776 |
254 | L>S | No |
ClinGen Ensembl |
|
|
CA84797525 rs1029613581 |
256 | L>* | No |
ClinGen TOPMed |
|
|
CA84797510 rs926755093 |
259 | D>V | No |
ClinGen TOPMed |
|
|
CA2652071 rs750657966 |
268 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1183213049 CA354837996 |
270 | K>E | No |
ClinGen gnomAD |
|
|
CA354837982 rs1578030713 |
271 | K>N | No |
ClinGen Ensembl |
|
| rs752255624 | 271 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761647579 CA2652068 |
273 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs753867765 CA2652067 |
274 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2652066 rs764160209 |
274 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2652065 rs760630119 |
275 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2652064 rs775143491 |
275 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767048078 CA2652063 |
276 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs17850059 CA84797405 |
277 | E>* | No |
ClinGen Ensembl |
|
|
CA2652062 rs151152154 |
278 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA84797388 rs970897487 |
279 | P>R | No |
ClinGen Ensembl |
|
|
rs35692900 CA2652061 VAR_051264 |
280 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2652060 rs770092240 |
281 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA2652058 rs182872365 |
283 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1391245643 CA354837912 |
284 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 284 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392066508 CA354837909 |
285 | P>T | No |
ClinGen gnomAD |
|
|
rs1010084049 CA84797367 |
286 | V>I | No |
ClinGen gnomAD |
|
|
rs551242432 CA2652057 |
288 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551242432 CA84797364 |
288 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354837874 rs1402587585 |
289 | G>V | No |
ClinGen gnomAD |
|
|
VAR_022448 rs17554211 CA2652040 |
292 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs747573556 CA2652038 |
293 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1375405365 | 293 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2652036 COSM1219857 rs148677333 |
294 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM581756 rs1452427497 CA354837839 |
295 | A>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1452427497 CA354837838 |
295 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2652035 rs745994561 |
296 | L>F | No |
ClinGen ExAC |
|
|
CA84791886 rs1016444742 |
298 | Q>* | No |
ClinGen Ensembl |
|
|
rs888319911 CA84791873 |
301 | C>F | No |
ClinGen TOPMed |
|
|
rs888319911 COSM1738910 CA354837796 |
301 | C>Y | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2652031 rs749513617 |
303 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354837786 rs147612568 |
303 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2652030 rs147612568 |
303 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2652032 rs749513617 |
303 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2652028 rs752616266 |
304 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354837776 rs1347780534 |
305 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2652026 rs370858514 |
309 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261345639 CA354837745 |
310 | N>S | No |
ClinGen TOPMed |
|
|
CA354837729 rs1489367673 |
312 | C>Y | No |
ClinGen TOPMed |
|
|
CA354837705 rs1194014101 |
315 | D>E | No |
ClinGen TOPMed |
|
|
CA2652025 rs751091913 |
317 | V>I | No |
ClinGen ExAC |
|
|
CA354837674 rs1201698388 |
318 | L>S | No |
ClinGen TOPMed |
|
|
rs1291717076 CA354837666 |
319 | A>V | No |
ClinGen gnomAD |
|
|
CA2652008 rs552293480 |
320 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs779598836 CA2652006 |
322 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA354837636 rs1166798111 |
323 | I>N | No |
ClinGen gnomAD |
|
|
CA2652005 rs757882477 |
323 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs750120878 CA2652004 |
324 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1430721788 CA354837618 |
325 | T>S | No |
ClinGen TOPMed |
|
|
CA354837612 rs1419536017 |
326 | I>V | No |
ClinGen gnomAD |
|
|
rs527346018 CA2652002 |
328 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2652001 rs139771484 |
328 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139771484 CA354837594 |
328 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs527346018 CA354837596 |
328 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA354837588 rs1272994909 |
329 | D>G | No |
ClinGen gnomAD |
|
|
rs762887486 CA354837591 |
329 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651999 rs762887486 |
329 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774695275 CA2651998 |
331 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs377468452 CA2651996 |
333 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354837550 rs770152757 |
334 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651994 rs770152757 COSM1419663 |
334 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA354837547 rs1478003516 |
334 | A>V | No |
ClinGen gnomAD |
|
|
rs147424023 CA2651992 |
336 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs548370664 CA84789854 |
337 | S>A | No |
ClinGen 1000Genomes |
|
|
rs2304735 CA2651990 |
337 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1308682 rs2304735 CA2651991 |
337 | S>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2651986 rs149359479 |
340 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA84789837 rs149359479 |
340 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745408122 CA354837497 |
341 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348319852 CA354837495 |
341 | I>T | No |
ClinGen TOPMed |
|
|
CA2651985 rs745408122 |
341 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651983 rs369551955 |
344 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA84789819 rs905640478 |
345 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs530037755 CA84789811 |
348 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs530037755 CA2651982 |
348 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375192412 COSM205564 CA84789807 |
348 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs562797157 CA2651979 |
350 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 352 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651978 rs199689996 |
352 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773428533 CA2651976 |
353 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA354837358 rs1047648760 |
358 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA84789759 rs1047648760 |
358 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354837337 rs1286679863 |
360 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs762154075 CA2651974 |
363 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2651973 rs776696030 |
364 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768536341 CA2651972 |
365 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs369475147 CA84789732 |
369 | L>F | No |
ClinGen ESP TOPMed |
|
|
rs1578026466 CA354837258 |
370 | L>I | No |
ClinGen Ensembl |
|
|
rs746815648 CA2651971 |
370 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2651970 rs775219845 |
371 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1429656133 CA354836971 |
379 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA84788268 rs200880082 |
382 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2651949 rs200880082 |
382 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2651950 rs745851195 |
382 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2651947 rs748767628 |
385 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs770857388 CA2651948 |
385 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 385 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651946 rs777278188 |
386 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2651943 COSM445732 rs116059545 |
387 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1414304734 CA354836875 |
387 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1560127650 CA354836836 |
391 | M>L | No |
ClinGen Ensembl |
|
|
CA354836816 rs1350480134 |
392 | P>R | No |
ClinGen TOPMed |
|
|
CA84788231 rs371298228 |
393 | N>D | No |
ClinGen ESP TOPMed |
|
|
rs141887377 CA2651941 |
393 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368076904 CA2651940 |
394 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs935101216 CA84788219 |
396 | I>N | No |
ClinGen TOPMed |
|
|
rs1232843914 CA354836772 |
396 | I>V | No |
ClinGen TOPMed |
|
|
rs1007758166 CA84788212 |
397 | M>T | No |
ClinGen Ensembl |
|
|
rs1212357912 CA354836761 |
397 | M>V | No |
ClinGen gnomAD |
|
|
rs373839458 CA2651938 |
398 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 402 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84788203 rs796819923 |
404 | Q>* | No |
ClinGen Ensembl |
|
|
CA354836673 rs1578025401 |
404 | Q>R | No |
ClinGen Ensembl |
|
|
CA354836634 rs1350155379 |
407 | L>P | No |
ClinGen TOPMed |
|
|
CA354836607 rs1356862680 |
410 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354836576 rs1168411028 |
412 | N>I | No |
ClinGen gnomAD |
|
|
CA354836557 rs890748134 CA84788180 |
413 | K>N | No |
ClinGen TOPMed |
|
|
rs775713667 CA84788176 |
414 | Q>* | No |
ClinGen TOPMed |
|
|
CA2651936 rs753881448 |
414 | Q>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9UKZ9
5 regional properties for Q9UKZ9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CUB domain | 33 - 144 | IPR000859-1 |
| domain | CUB domain | 154 - 268 | IPR000859-2 |
| domain | Netrin domain | 297 - 415 | IPR001134 |
| domain | Netrin module, non-TIMP type | 308 - 413 | IPR018933 |
| domain | Procollagen C-endopeptidase enhancer, NTR domain | 292 - 415 | IPR035814 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
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. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to leukemia inhibitory factor | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRGANAWAPL | CLLLAAATQL | SRQQSPERPV | FTCGGILTGE | SGFIGSEGFP | GVYPPNSKCT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WKITVPEGKV | VVLNFRFIDL | ESDNLCRYDF | VDVYNGHANG | QRIGRFCGTF | RPGALVSSGN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KMMVQMISDA | NTAGNGFMAM | FSAAEPNERG | DQYCGGLLDR | PSGSFKTPNW | PDRDYPAGVT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CVWHIVAPKN | QLIELKFEKF | DVERDNYCRY | DYVAVFNGGE | VNDARRIGKY | CGDSPPAPIV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SERNELLIQF | LSDLSLTADG | FIGHYIFRPK | KLPTTTEQPV | TTTFPVTTGL | KPTVALCQQK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CRRTGTLEGN | YCSSDFVLAG | TVITTITRDG | SLHATVSIIN | IYKEGNLAIQ | QAGKNMSARL |
| 370 | 380 | 390 | 400 | 410 | |
| TVVCKQCPLL | RRGLNYIIMG | QVGEDGRGKI | MPNSFIMMFK | TKNQKLLDAL | KNKQC |