Q8NCQ7
Gene name |
PROCA1 |
Protein name |
Protein PROCA1 |
Names |
Protein interacting with cyclin A1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:147011 |
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 Q8NCQ7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NCQ7-F1 | Predicted | AlphaFoldDB |
330 variants for Q8NCQ7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1418534400 CA398393461 |
2 | W>* | No |
ClinGen gnomAD |
|
|
rs1186571637 CA398393436 |
4 | R>G | No |
ClinGen gnomAD |
|
|
CA398393422 rs1244395843 |
4 | R>K | No |
ClinGen gnomAD |
|
|
CA8465874 rs772508942 |
7 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8465873 rs772508942 |
7 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8465871 rs200984168 |
9 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs564467384 CA8465872 |
9 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1217110627 CA398393327 |
11 | R>G | No |
ClinGen gnomAD |
|
|
CA8465870 rs768961503 |
12 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA8465869 rs749445488 |
13 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA289127312 rs749445488 |
13 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1240121519 CA398393283 |
14 | K>E | No |
ClinGen TOPMed |
|
|
CA398393278 rs1597744533 |
14 | K>T | No |
ClinGen Ensembl |
|
|
CA398393259 rs769738771 |
15 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8465867 rs769738771 |
15 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8465866 rs781340036 |
16 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1289607154 CA398393195 |
19 | P>S | No |
ClinGen gnomAD |
|
|
CA398393182 rs1447122831 |
20 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751124321 CA8465863 |
20 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA398393157 rs777128011 |
21 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA398393168 rs1343720854 |
21 | A>T | No |
ClinGen gnomAD |
|
|
CA8465862 rs777128011 |
21 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398393152 rs1418420049 |
22 | R>C | No |
ClinGen gnomAD |
|
|
CA289127275 rs934230814 |
22 | R>H | No |
ClinGen TOPMed |
|
|
CA8465860 rs752325880 |
24 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1421045391 CA398393129 |
24 | W>* | No |
ClinGen gnomAD |
|
|
rs1473903475 CA398393135 |
24 | W>R | No |
ClinGen gnomAD |
|
|
CA8465858 rs761042157 |
25 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs764803635 CA8465859 |
25 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA398391159 rs1310723946 |
28 | L>V | No |
ClinGen gnomAD |
|
|
CA398391134 rs1422065710 |
29 | S>L | No |
ClinGen gnomAD |
|
|
rs144816976 CA289123258 |
30 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144816976 CA8465836 |
30 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1208754525 CA398391086 |
32 | N>K | No |
ClinGen TOPMed |
|
|
rs907499934 CA289123252 |
32 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 37 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182150112 CA398390956 |
38 | E>K | No |
ClinGen TOPMed |
|
|
rs1364755895 CA398390928 |
39 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA289123248 rs951834752 |
40 | G>E | No |
ClinGen Ensembl |
|
|
CA8465835 rs563545838 |
40 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398390850 rs1185759261 |
44 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289123242 rs1034087453 |
46 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA398390825 rs1420706855 |
46 | V>M | No |
ClinGen gnomAD |
|
|
rs1457788717 CA398390809 |
47 | A>T | No |
ClinGen TOPMed |
|
|
CA8465834 rs764592123 |
47 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398390628 rs1410604331 |
52 | V>A | No |
ClinGen TOPMed |
|
|
rs578067125 CA289123233 |
53 | S>P | No |
ClinGen 1000Genomes |
|
|
rs1486348966 CA398390600 |
54 | T>A | No |
ClinGen gnomAD |
|
|
CA398390578 rs1191223926 |
55 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1261090655 CA398390479 |
58 | G>C | No |
ClinGen gnomAD |
|
|
rs1238111250 CA398390474 |
58 | G>D | No |
ClinGen gnomAD |
|
|
CA8465825 rs746751574 |
59 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA289122581 rs920625259 |
63 | E>D | No |
ClinGen gnomAD |
|
|
rs1184389908 CA398389257 |
63 | E>G | No |
ClinGen TOPMed |
|
|
rs773038403 CA8465824 |
65 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 65 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326635152 CA398389104 |
71 | H>P | No |
ClinGen gnomAD |
|
|
rs916044523 CA289122520 |
72 | K>M | No |
ClinGen Ensembl |
|
|
rs779638032 CA8465817 |
74 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1301073188 CA398389012 |
74 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs753207202 CA8465813 |
79 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289122478 rs369933235 |
79 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA398388843 rs1597731653 |
80 | Y>S | No |
ClinGen Ensembl |
|
|
rs960230823 CA289122466 |
81 | P>R | No |
ClinGen gnomAD |
|
|
rs758909804 CA8465811 |
81 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752877417 CA8465810 |
82 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765433249 CA398388769 |
83 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8465809 rs765433249 |
83 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398388619 rs1597731588 |
87 | V>A | No |
ClinGen Ensembl |
|
|
CA8465805 rs776997644 |
88 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8465806 rs776997644 |
88 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138077899 CA8465804 |
88 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs968759452 CA289122431 |
89 | H>Y | No |
ClinGen Ensembl |
|
|
rs543881952 CA8465803 |
90 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8465801 rs771942143 |
92 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs146270076 CA8465799 |
93 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA289122429 rs996511712 |
94 | H>R | No |
ClinGen Ensembl |
|
|
CA8465798 rs768181981 |
94 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1193358374 CA398388431 |
97 | N>S | No |
ClinGen TOPMed |
|
|
rs141862185 CA398388404 |
98 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398388389 rs759599083 |
98 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA398388393 rs1391968591 |
98 | H>R | No |
ClinGen gnomAD |
|
|
CA8465796 rs141862185 |
98 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA289122399 rs886969657 |
99 | C>* | No |
ClinGen Ensembl |
|
|
rs1008001735 CA289122404 |
99 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 99 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA289122391 rs751847926 |
101 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1744186 CA8465794 rs751847926 |
101 | C>Y | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs778179510 CA8465793 |
102 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs758645795 CA8465792 |
104 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8465750 rs780385812 |
104 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398388132 rs1567713483 |
106 | K>E | No |
ClinGen Ensembl |
|
|
rs1227923485 CA398388081 |
110 | E>K | No |
ClinGen gnomAD |
|
|
rs750408777 CA8465746 |
112 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1295085753 CA398388018 |
113 | S>G | No |
ClinGen gnomAD |
|
|
CA398388004 rs1442890192 |
113 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 115 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143668972 CA8465744 |
116 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA8465745 rs148075248 COSM3718521 |
116 | R>W | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1433598147 CA398387969 |
117 | G>S | No |
ClinGen gnomAD |
|
|
CA8465741 rs148946652 |
118 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752688160 CA8465740 |
118 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759143893 CA8465738 |
120 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs776002091 CA8465737 |
121 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs369147017 CA398387918 |
122 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8465735 rs369147017 |
122 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA398387896 rs769173190 |
124 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA8465733 rs769173190 |
124 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA398387878 rs1482182743 |
126 | I>V | No |
ClinGen gnomAD |
|
|
rs566098264 CA8465731 |
127 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770184428 CA8465730 |
128 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA398387859 rs1330976697 |
129 | P>S | No |
ClinGen TOPMed |
|
|
CA398387861 rs1330976697 |
129 | P>T | No |
ClinGen TOPMed |
|
|
rs781215362 CA8465728 |
130 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs150328148 CA8465727 |
134 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374751808 CA8465726 |
135 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398387818 rs374751808 |
135 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398387817 rs374751808 |
135 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8465724 rs758229750 |
136 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765286083 CA8465722 |
137 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754841193 CA8465721 |
138 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA398387801 rs1174475888 |
138 | E>Q | No |
ClinGen gnomAD |
|
|
CA8465720 rs753438569 |
140 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA398387781 rs1471671009 |
141 | E>K | No |
ClinGen gnomAD |
|
|
rs766008745 CA8465719 |
142 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760221349 CA8465718 |
142 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773002993 CA8465717 |
143 | F>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1520867 rs1255191357 CA398387765 |
143 | F>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM3795387 CA398387762 rs1318633969 |
144 | R>Q | urinary_tract Variant assessed as Somatic; 4.632e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA8465716 rs372096791 |
144 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201929229 CA398387731 |
147 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8465688 rs201929229 |
147 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs947575752 CA289121780 |
151 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 152 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8465686 rs760811240 |
152 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA8465685 rs773245847 |
153 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA398387686 rs1248404805 |
153 | P>S | No |
ClinGen gnomAD |
|
|
CA398387670 rs1254835667 |
155 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA398387672 rs1254835667 |
155 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA398387658 rs1209870349 |
156 | V>G | No |
ClinGen gnomAD |
|
|
CA398387643 rs1355042976 |
158 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1263258224 CA398387633 |
159 | I>T | No |
ClinGen gnomAD |
|
|
CA8465683 rs201225284 |
160 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1342521060 CA398387625 |
160 | H>Q | No |
ClinGen gnomAD |
|
|
CA289121739 rs768335542 |
162 | P>R | No |
ClinGen Ensembl |
|
|
CA398387594 rs1424111191 |
165 | H>R | No |
ClinGen gnomAD |
|
|
rs748342765 CA8465682 |
165 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8465681 rs768338852 |
167 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs768338852 CA8465680 |
167 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA398387578 rs1480883539 |
167 | C>S | No |
ClinGen TOPMed |
|
|
CA8465679 rs749032245 |
169 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780198713 CA8465678 |
171 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756113212 CA8465676 |
173 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025855176 CA289121681 |
174 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1460235584 CA398387495 |
175 | E>A | No |
ClinGen TOPMed |
|
|
CA8465673 rs756740370 |
175 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8465675 rs746509784 |
175 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746509784 CA398387500 |
175 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867007955 CA289121657 |
179 | E>K | No |
ClinGen gnomAD |
|
|
CA398387428 rs867007955 |
179 | E>Q | No |
ClinGen gnomAD |
|
|
rs1597729175 CA398387379 |
181 | E>K | No |
ClinGen Ensembl |
|
|
rs763747751 CA398387352 |
182 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763747751 CA8465669 |
182 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1273495653 CA398387322 |
183 | S>G | No |
ClinGen gnomAD |
|
|
CA398387310 rs1226598838 |
183 | S>N | No |
ClinGen gnomAD |
|
|
rs1213105008 CA398387272 |
185 | P>S | No |
ClinGen gnomAD |
|
|
CA8465667 rs759956496 |
186 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398387250 rs754198104 |
186 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs754198104 CA8465666 |
186 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA398387235 rs1597729069 |
187 | I>T | No |
ClinGen Ensembl |
|
|
rs1370140606 CA398387222 |
188 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1410536539 CA398387225 |
188 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772073223 CA8465662 |
190 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772073223 CA8465663 |
190 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761884631 CA8465661 |
190 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1249525508 CA398387198 |
190 | Q>R | No |
ClinGen TOPMed |
|
|
rs1597728996 CA398387177 |
191 | V>G | No |
ClinGen Ensembl |
|
|
rs573386518 CA8465660 |
191 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1173016727 CA398387152 |
193 | P>S | No |
ClinGen gnomAD |
|
|
CA8465657 rs543135538 |
194 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8465658 rs199919141 |
194 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745819940 CA8465655 |
196 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398387078 rs1279743877 |
198 | P>S | No |
ClinGen gnomAD |
|
|
rs1567712254 CA398387041 |
200 | L>V | No |
ClinGen Ensembl |
|
|
CA398387021 rs1343424201 |
201 | G>A | No |
ClinGen gnomAD |
|
|
RCV000969679 CA8465654 rs114236344 |
201 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8465653 rs140256102 |
202 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746518553 CA8465652 |
203 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1320663915 CA398386956 |
205 | A>V | No |
ClinGen gnomAD |
|
|
CA398386944 rs1567712184 |
206 | T>I | No |
ClinGen Ensembl |
|
|
CA8465650 rs371202222 |
207 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754251318 CA8465649 |
208 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398386905 rs1334543297 |
209 | P>S | No |
ClinGen gnomAD |
|
|
CA398386850 rs1435418005 |
210 | D>E | No |
ClinGen TOPMed |
|
|
rs1457258987 CA398386815 |
212 | T>I | No |
ClinGen gnomAD |
|
|
rs1042222293 CA289121591 |
212 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1179439709 CA398386806 |
213 | A>T | No |
ClinGen gnomAD |
|
|
CA8465645 rs572743535 |
213 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774485004 CA8465642 |
217 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA8465641 COSM3421365 rs182342785 |
219 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1329152439 CA398386693 |
219 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs931661503 CA289121562 |
221 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs536086715 CA8465639 |
224 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536086715 CA8465640 |
224 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1446936505 CA398386566 |
227 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1283860119 CA398386572 |
227 | G>S | No |
ClinGen gnomAD |
|
|
CA398386537 rs1338503006 |
228 | Q>R | No |
ClinGen gnomAD |
|
|
CA8465637 rs745603315 |
230 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776491153 CA8465636 |
231 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA398386420 rs746545857 |
234 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs573063962 CA8465633 |
237 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398386341 rs1248517791 |
239 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8465631 rs771826469 |
241 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398386279 rs771826469 |
241 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747832617 CA8465630 |
242 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1393389167 CA398386234 |
243 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs756481029 CA8465628 |
243 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942963678 CA289121532 |
244 | K>E | No |
ClinGen TOPMed |
|
|
rs1077127 VAR_043476 CA289121525 |
245 | D>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA8465627 rs750782908 |
246 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567711743 CA398386149 |
247 | E>K | No |
ClinGen Ensembl |
|
|
CA398386062 rs1597728466 |
251 | E>G | No |
ClinGen Ensembl |
|
|
rs763085012 CA8465620 |
254 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs373807531 CA8465619 |
255 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778029551 CA8465618 |
256 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398385905 rs1437915131 |
257 | K>R | No |
ClinGen gnomAD |
|
|
rs151135532 CA8465617 |
258 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349942474 CA398385875 |
258 | K>R | No |
ClinGen gnomAD |
|
|
CA289121494 rs962554503 |
266 | K>* | No |
ClinGen Ensembl |
|
|
CA8465614 rs770826343 |
266 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388791659 CA398385672 |
267 | K>E | No |
ClinGen gnomAD |
|
|
rs746993062 CA8465613 |
268 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200114460 CA289121485 |
268 | K>R | No |
ClinGen 1000Genomes |
|
|
CA8465611 rs773096567 |
269 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771577797 CA8465610 |
270 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8465609 rs747596303 |
270 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770541517 CA8465607 |
272 | K>D | No |
ClinGen ExAC gnomAD |
|
|
rs960609698 CA398385528 |
273 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8465606 rs377031681 |
274 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398385498 rs1471219963 |
275 | P>S | No |
ClinGen TOPMed |
|
|
CA398385482 rs1220866614 |
276 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs746253854 CA8465605 |
277 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752138151 CA8465601 |
279 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs758610329 CA8465599 |
280 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA398385393 rs1369085020 |
282 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs200021121 CA8465597 |
282 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8465598 rs200021121 |
282 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8465594 COSM976984 rs143950518 |
286 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA289121410 rs533056293 |
291 | R>G | No |
ClinGen 1000Genomes |
|
|
CA398385254 rs1165964731 |
291 | R>S | No |
ClinGen gnomAD |
|
|
rs766230452 CA8465593 |
292 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs760322267 COSM265739 CA8465592 |
294 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA398385209 rs1243295554 |
294 | E>V | No |
ClinGen Ensembl |
|
|
CA398385193 rs1567711258 |
295 | S>C | No |
ClinGen Ensembl |
|
|
rs1597728008 CA398385188 |
296 | S>G | No |
ClinGen Ensembl |
|
|
CA289121407 rs893272296 |
296 | S>I | No |
ClinGen gnomAD |
|
|
CA398385159 rs1249369733 |
297 | P>L | No |
ClinGen gnomAD |
|
|
rs751617318 CA289121406 |
298 | E>Q | No |
ClinGen Ensembl |
|
|
CA398385126 rs1212036139 |
299 | S>G | No |
ClinGen gnomAD |
|
|
CA8465591 rs773145372 |
299 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA398385105 rs771980693 |
300 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8465589 rs201073389 |
300 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771980693 CA8465590 |
300 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398385065 rs1288498781 |
302 | E>K | No |
ClinGen gnomAD |
|
|
rs1408836926 CA398385021 |
303 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA289121399 rs200833418 |
304 | E>D | No |
ClinGen Ensembl |
|
|
CA398385015 rs547305035 |
304 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8465588 rs547305035 |
304 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8465586 rs748991687 |
306 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183149668 CA398384936 |
307 | D>N | No |
ClinGen TOPMed |
|
|
CA398384886 rs1174591459 |
309 | Y>C | No |
ClinGen gnomAD |
|
|
CA289121396 rs369735310 |
309 | Y>N | No |
ClinGen ESP |
|
|
rs779531231 CA8465585 |
310 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8465584 rs529027052 |
311 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 312 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201634767 CA8465582 |
312 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398384847 rs1258559975 |
312 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM183619 rs201634767 CA8465581 |
312 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398384821 rs1567711029 |
313 | G>E | No |
ClinGen Ensembl |
|
|
rs1213052374 CA398384777 |
315 | G>E | No |
ClinGen Ensembl |
|
|
CA8465579 rs752873252 |
318 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs779160916 CA8465578 |
318 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA398384703 rs1331230083 |
319 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs369557485 CA398384699 |
319 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8465577 rs754976909 |
319 | S>R | No |
ClinGen ExAC gnomAD |
|
|
VAR_043477 CA8465575 rs3744637 |
320 | E>K | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs372496544 CA289121362 |
321 | D>Y | No |
ClinGen Ensembl |
|
|
CA8465572 rs199835822 |
322 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750211068 CA8465573 |
322 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8465571 rs761712471 |
324 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774223943 CA8465570 |
326 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA8465568 rs200057429 |
327 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455741312 CA398384540 |
328 | P>S | No |
ClinGen gnomAD |
|
|
CA8465565 rs747419432 |
329 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398384523 rs1196927523 |
329 | R>S | No |
ClinGen TOPMed |
|
|
rs773690375 CA8465564 |
330 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1255216380 CA398384510 |
330 | K>R | No |
ClinGen gnomAD |
|
|
rs1248597964 CA398384489 |
331 | R>S | No |
ClinGen gnomAD |
|
|
CA8465562 rs748700857 |
331 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA398384487 rs79223253 |
332 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8465561 rs79223253 |
332 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755100786 CA8465560 |
333 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8465559 rs573823632 |
335 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181428051 CA8465558 |
337 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372361291 CA8465557 |
338 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237317109 CA398384362 |
340 | T>A | No |
ClinGen Ensembl |
|
|
CA398384307 rs1597727472 |
343 | K>N | No |
ClinGen Ensembl |
|
|
rs767322592 CA8465554 |
346 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767322592 CA398384279 |
346 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757005530 CA398384231 |
349 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs757005530 CA8465552 |
349 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs751501990 CA8465551 |
350 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1567710652 CA398384205 |
351 | N>K | No |
ClinGen Ensembl |
|
|
CA8465550 rs763878512 |
352 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8465548 rs762593335 |
354 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398384159 rs762593335 |
354 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8465546 rs764989691 |
356 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8465547 rs774832594 |
356 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM417632 CA398384132 rs774832594 |
356 | P>T | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 357 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8465545 rs188624178 |
357 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1209962688 CA398384072 |
360 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA289121302 rs200506796 |
363 | L>I | No |
ClinGen 1000Genomes |
|
|
CA398384000 rs1289185764 |
363 | L>P | No |
ClinGen gnomAD |
|
|
rs1343336254 CA398383951 |
365 | S>W | No |
ClinGen gnomAD |
No associated diseases with Q8NCQ7
1 regional properties for Q8NCQ7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phospholipase A2 domain | 55 - 133 | IPR016090 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cyclin binding | Binding to cyclins, proteins whose levels in a cell varies markedly during the cell cycle, rising steadily until mitosis, then falling abruptly to zero. As cyclins reach a threshold level, they are thought to drive cells into G2 phase and thus to mitosis. |
| phospholipase A2 activity | Catalysis of the reaction: a 1,2-diacyl-sn-glycero-3-phospholipid + H2O = 1-acyl-sn-glycero-3-phospholipid + a fatty acid. This reaction removes the fatty acid attached to the sn2-position. Substrates include phosphatidylcholine, phosphatidylethanolamine, choline plasmalogen and phosphatides. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| arachidonic acid secretion | The controlled release of arachidonic acid from a cell or a tissue. |
| phospholipid metabolic process | The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWVRTTLTIE | RWTKEKTEPK | ARSWDEALSD | VNRLPSWERG | HLLAGVASST | DVSTFSEGGD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CKEPDKCCWR | HKQCTGHIIY | PFASDCVRHS | LHLHSVNHCN | CNSRLKDSSE | DSSSSRGAGP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TCSHVIESPC | FELTPEEEHV | ERFRYGWCKS | YRPVSVAVIH | HPLYHECGAD | DLNEEEEEEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EESKPPIPTQ | VGPATASPDL | GTSMATGTPD | STAPITIWRS | ESPTGKGQGS | KVIKKVKKKK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EKEKDKEEMD | EKAKLKKKAK | KGQLTKKKSP | VKLEPSPPDV | SRSLSARQLA | RMSESSPESR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EELESEDSYN | GRGQGELSSE | DIVESSSPRK | RENTVQAKKT | GAKPSQARKV | NKRKSPPGSN |
| PNLS |