P04004
PR
Gene name |
VTN |
Protein name |
Vitronectin |
Names |
VN, S-protein, Serum-spreading factor, V75 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7448 |
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
10 structures for P04004
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1OC0 | X-ray | 228 A | B | 20-70 | PDB |
| 1S4G | NMR | - | A | 20-70 | PDB |
| 1SSU | NMR | - | A | 20-70 | PDB |
| 2JQ8 | NMR | - | A | 20-66 | PDB |
| 3BT1 | X-ray | 280 A | B | 21-60 | PDB |
| 3BT2 | X-ray | 250 A | B | 21-60 | PDB |
| 4K24 | X-ray | 450 A | B | 21-60 | PDB |
| 6O5E | X-ray | 190 A | A/B | 154-474 | PDB |
| 7RJ9 | X-ray | 170 A | A/B | 154-474 | PDB |
| AF-P04004-F1 | Predicted | AlphaFoldDB |
451 variants for P04004
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs372014231 CA8457777 |
4 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1474221425 CA398324384 |
4 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782660100 CA8457776 |
5 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8457775 rs782325071 |
6 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597812390 CA398324368 |
7 | L>F | No |
ClinGen Ensembl |
|
|
CA398324363 rs1597812387 |
8 | L>F | No |
ClinGen Ensembl |
|
|
rs782169461 CA8457773 |
11 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420281518 CA398324319 |
15 | W>* | No |
ClinGen TOPMed |
|
|
CA8457772 rs368937297 |
17 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374015075 CA398324309 |
17 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA289096218 rs374015075 |
17 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398324303 rs1555583796 |
18 | L>P | No |
ClinGen gnomAD |
|
|
CA398324298 rs1276839944 |
19 | A>G | No |
ClinGen TOPMed |
|
|
CA8457771 rs782479710 |
19 | A>P | No |
ClinGen ExAC TOPMed |
|
|
rs781865470 CA8457770 |
20 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8457768 rs148994005 |
21 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8457769 rs148994005 |
21 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379218599 CA398324262 |
23 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA289096154 rs779627248 |
24 | C>* | No |
ClinGen Ensembl |
|
|
CA8457743 rs376810749 |
24 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398324250 rs1309201574 |
25 | K>E | No |
ClinGen TOPMed |
|
|
rs782533890 CA8457742 |
26 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8457741 rs372230398 COSM1679654 |
27 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 27 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8457740 rs202110037 |
27 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398324230 rs1555583767 |
28 | C>Y | No |
ClinGen gnomAD |
|
|
rs950523932 CA289096144 |
30 | E>D | No |
ClinGen gnomAD |
|
|
CA8457739 rs782094981 |
30 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA398324220 rs782094981 |
30 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781948323 CA8457738 |
31 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555583763 CA398324207 |
32 | F>V | No |
ClinGen gnomAD |
|
|
rs782109157 CA8457736 |
34 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA398324184 rs782030246 |
35 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8457735 rs782030246 |
35 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA398324175 rs1555583761 |
36 | K>N | No |
ClinGen gnomAD |
|
|
rs782326915 CA8457734 |
37 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs781970071 CA8457732 |
42 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1555583755 CA398324114 |
44 | C>W | No |
ClinGen gnomAD |
|
|
rs1555583756 CA398324118 |
44 | C>Y | No |
ClinGen gnomAD |
|
|
CA398324110 rs1597812207 |
45 | S>C | No |
ClinGen Ensembl |
|
|
CA8457731 rs782347118 |
46 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA398324106 rs1555583752 |
46 | Y>H | No |
ClinGen TOPMed |
|
|
CA8457730 rs140248417 |
48 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1012223491 CA289096113 |
49 | S>N | No |
ClinGen Ensembl |
|
|
CA398324080 CA8457729 rs782641083 |
49 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555583745 CA398324077 |
50 | C>G | No |
ClinGen gnomAD |
|
|
CA8457728 rs782552216 |
51 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8457727 rs782280356 |
52 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398324047 rs1555583742 |
54 | Y>C | No |
ClinGen Ensembl |
|
|
CA398324050 rs1473758287 |
54 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8457724 rs147146251 |
55 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398324035 rs1555583741 |
56 | A>S | No |
ClinGen gnomAD |
|
|
rs782518955 CA8457722 |
57 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782332650 CA8457707 |
63 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782168976 CA8457706 |
64 | R>C | Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398323970 rs782168976 |
64 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145095194 CA289096052 |
64 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs184192380 CA8457704 |
65 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782257958 CA398323962 |
66 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs782257958 CA8457703 |
66 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8457702 rs782631664 |
67 | V>A | No |
ClinGen ExAC |
|
|
rs541153221 CA8457701 |
69 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8457700 rs201384220 |
71 | P>L | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555583714 CA398323910 |
71 | P>S | No |
ClinGen gnomAD |
|
|
CA8457698 rs782496984 |
72 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs781824403 CA398323875 |
73 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA289096028 rs944354168 |
74 | E>* | No |
ClinGen Ensembl |
|
|
rs944354168 CA289096031 |
74 | E>K | No |
ClinGen Ensembl |
|
|
CA8457696 rs150757499 |
76 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457692 rs782075144 |
80 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782346117 CA8457690 |
82 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1394505022 CA398323755 |
82 | E>K | No |
ClinGen TOPMed |
|
|
CA8457689 rs148666516 |
83 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335465475 CA398323730 |
84 | K>E | No |
ClinGen TOPMed |
|
|
CA398323708 rs1555583701 |
85 | N>S | No |
ClinGen gnomAD |
|
|
rs1567802296 CA398323686 |
87 | A>T | No |
ClinGen Ensembl |
|
|
CA8457688 rs781994851 |
88 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA398323664 rs1555583699 |
89 | V>I | No |
ClinGen gnomAD |
|
|
CA8457687 rs782372739 |
91 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1555583697 CA398323610 |
92 | Q>H | No |
ClinGen gnomAD |
|
|
rs970401046 CA398323596 |
94 | G>R | No |
ClinGen gnomAD |
|
|
rs970401046 CA289096007 |
94 | G>W | No |
ClinGen gnomAD |
|
|
rs1280530699 CA398323577 |
95 | G>D | No |
ClinGen TOPMed |
|
|
CA8457682 rs367756510 |
97 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398323546 rs1200917710 |
98 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398323510 rs1012667049 |
101 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1012667049 CA289095997 |
101 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8457681 rs370458755 |
101 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs782540967 CA8457680 |
103 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA289095996 rs782508700 |
103 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs371699977 CA8457678 |
104 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457679 rs782515931 |
104 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398323418 rs1555583677 |
112 | Q>K | No |
ClinGen gnomAD |
|
|
CA8457676 rs782541028 |
112 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555583674 CA398323393 |
115 | V>L | No |
ClinGen gnomAD |
|
|
CA398323380 rs1192750991 |
116 | L>V | No |
ClinGen TOPMed |
|
|
CA398323367 rs1597811868 |
117 | K>E | No |
ClinGen Ensembl |
|
|
rs1371348705 CA398323340 |
118 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8457674 rs782708368 |
121 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1555583668 CA398323272 |
122 | A>D | No |
ClinGen gnomAD |
|
|
VAR_012983 CA8457673 rs2227741 |
122 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 122 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398323261 rs1173627423 |
123 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA398323241 rs144093348 |
124 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457671 rs144093348 |
124 | A>V | Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1597811839 CA398323232 |
125 | P>R | No |
ClinGen Ensembl |
|
|
CA8457669 rs543411017 |
125 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782791340 CA8457668 |
126 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000897418 CA8457667 rs112887300 |
126 | E>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1332282282 CA398323211 |
127 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8457666 rs781919497 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 133 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345626311 CA398323101 |
135 | I>V | No |
ClinGen TOPMed |
|
|
rs782262705 CA8457664 |
136 | D>H | No |
ClinGen ExAC |
|
|
CA8457662 rs377679842 COSM1302536 |
137 | S>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8457663 rs557265411 |
137 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1555583650 CA398323036 |
139 | P>A | No |
ClinGen gnomAD |
|
|
rs199522124 CA8457661 |
141 | T>I | No |
ClinGen 1000Genomes ExAC |
|
|
rs1555583644 CA398322908 |
147 | P>R | No |
ClinGen gnomAD |
|
|
rs1487846435 CA398322915 |
147 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782222213 CA398322892 |
148 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259951331 CA398322889 |
149 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782595048 CA8457656 |
150 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA398322868 rs1555583640 |
152 | E>D | No |
ClinGen gnomAD |
|
|
rs1555583635 CA398322842 |
156 | C>Y | No |
ClinGen gnomAD |
|
|
rs781850224 CA8457653 |
158 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555583631 CA398322811 |
160 | P>L | No |
ClinGen gnomAD |
|
|
CA398322814 rs1555583633 |
160 | P>S | No |
ClinGen gnomAD |
|
|
rs782542357 CA8457651 COSM289814 |
162 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA398322793 rs1555583627 |
163 | A>D | No |
ClinGen gnomAD |
|
|
COSM1270315 CA8457649 rs782820530 |
163 | A>T | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1044296654 CA398322779 |
165 | T>N | No |
ClinGen TOPMed |
|
|
rs1044296654 CA289095943 |
165 | T>S | No |
ClinGen TOPMed |
|
|
rs1392405498 CA398322777 |
166 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA398322775 rs1392405498 |
166 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1555583619 CA398322745 |
170 | G>S | No |
ClinGen gnomAD |
|
|
rs782162923 CA8457645 |
176 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782023049 CA8457644 COSM976862 |
176 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781994059 CA8457624 |
178 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs781994059 CA398322686 |
178 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1458038337 CA398322677 |
179 | Y>C | No |
ClinGen TOPMed |
|
|
CA8457623 rs782369755 |
179 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398322660 rs1555583590 |
181 | Y>C | No |
ClinGen gnomAD |
|
|
CA289095886 rs144969063 |
182 | E>G | No |
ClinGen ESP |
|
|
rs1597811664 CA398322646 |
183 | L>P | No |
ClinGen Ensembl |
|
|
rs529852776 CA398322638 |
184 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM141491 rs555354635 CA8457620 |
185 | E>K | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA398322625 rs1555583587 |
186 | K>R | No |
ClinGen gnomAD |
|
|
CA398322626 rs1555583587 |
186 | K>T | No |
ClinGen gnomAD |
|
|
CA398322619 rs1555583584 |
187 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774621245 CA289095876 |
189 | R>T | No |
ClinGen Ensembl |
|
|
CA398322580 rs1448391294 |
193 | P>H | No |
ClinGen TOPMed |
|
|
rs1555583581 CA398322567 |
195 | L>F | No |
ClinGen gnomAD |
|
|
CA8457616 rs201061815 |
197 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782250181 CA8457615 COSM1381641 |
197 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1389657423 CA398322545 |
199 | V>I | No |
ClinGen TOPMed |
|
|
rs371982238 CA8457613 |
200 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398322480 rs1567802004 |
203 | E>G | No |
ClinGen Ensembl |
|
|
COSM560138 rs782486508 CA8457610 |
203 | E>K | lung Variant assessed as Somatic; 0.0 impact. oesophagus [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1555583569 CA398322435 |
206 | I>V | No |
ClinGen gnomAD |
|
|
CA8457607 rs368254328 |
207 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457606 rs781901259 |
208 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201871756 CA8457604 |
209 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398322351 rs1597811584 |
211 | T>P | No |
ClinGen Ensembl |
|
|
COSM268359 rs782356682 CA8457602 |
212 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8457601 rs782079860 |
212 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457599 rs782418471 |
215 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1233583172 CA398322268 COSM1520342 |
215 | C>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1233583172 CA398322270 |
215 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA398322196 rs1555583557 |
219 | T>I | No |
ClinGen gnomAD |
|
|
rs1555583555 CA398322185 |
220 | Y>S | No |
ClinGen gnomAD |
|
|
rs782285241 CA8457598 |
223 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555583501 CA398321912 |
225 | S>N | No |
ClinGen gnomAD |
|
|
rs781978849 CA8457569 |
226 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA398321868 rs1555583497 |
228 | W>* | No |
ClinGen gnomAD |
|
|
CA398321872 rs1555583498 |
228 | W>R | No |
ClinGen gnomAD |
|
|
rs782409757 CA8457568 COSM382007 |
229 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA8457567 rs782268632 |
229 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398321851 rs782268632 |
229 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782572548 CA8457565 |
232 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8457564 rs782433409 |
233 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484718973 CA398321774 |
235 | L>V | No |
ClinGen TOPMed |
|
|
CA8457562 rs782601763 |
237 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1022840983 CA289095681 |
238 | D>A | No |
ClinGen Ensembl |
|
|
CA8457561 rs782520242 |
238 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs781902151 CA8457560 |
239 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs370266094 CA8457559 |
240 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199987147 CA8457558 |
241 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 241 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8457557 rs781794013 COSM3691447 |
241 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA398321688 rs1555583488 |
242 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782750465 CA8457556 |
243 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457555 rs113538498 |
243 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782153712 CA8457552 |
246 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1344807721 CA398321626 |
247 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8457550 rs543820964 |
248 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782244379 COSM1381639 CA289095662 |
248 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA398321585 rs868986166 COSM183502 |
249 | G>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA398321571 rs1555583481 |
250 | I>M | No |
ClinGen gnomAD |
|
|
CA398321580 rs1555583482 |
250 | I>V | No |
ClinGen gnomAD |
|
|
rs200008646 COSM976860 CA8457548 |
251 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA289095652 rs890711415 |
252 | D>E | No |
ClinGen Ensembl |
|
|
COSM1520344 CA8457545 CA8457546 rs782405279 |
253 | N>K | Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8457543 rs371066052 |
254 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457542 rs138319093 |
255 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555583475 CA398321497 |
256 | A>G | No |
ClinGen gnomAD |
|
|
rs782493135 CA8457540 |
257 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs781817514 CA8457539 |
259 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1223322015 CA398321425 |
262 | A>V | No |
ClinGen TOPMed |
|
|
CA398321414 rs1253018576 |
263 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398321402 rs868950617 |
264 | S>N | No |
ClinGen gnomAD |
|
|
CA398321376 rs1467657435 |
266 | S>C | No |
ClinGen TOPMed |
|
|
rs2227723 CA8457536 VAR_012984 |
268 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8457537 rs564459012 |
268 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374591275 CA8457532 |
270 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781794064 CA8457533 COSM286483 |
270 | R>W | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1597811175 CA398321309 |
271 | V>G | No |
ClinGen Ensembl |
|
|
rs1555583464 CA398321319 |
271 | V>I | No |
ClinGen gnomAD |
|
|
rs140531078 CA8457530 |
272 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8457531 rs782083197 |
272 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA8457529 rs782375556 |
275 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457507 rs781963183 |
276 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1167385235 CA398321243 |
276 | G>R | No |
ClinGen TOPMed |
|
|
CA8457506 rs201356175 |
277 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555583425 CA398321170 |
277 | K>Q | No |
ClinGen TOPMed |
|
|
rs1313862287 CA398321128 |
279 | Y>C | No |
ClinGen TOPMed |
|
|
rs770169713 CA289095533 |
281 | E>A | No |
ClinGen TOPMed |
|
|
rs782123382 CA8457505 |
281 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1297303422 CA398321038 |
285 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 286 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8457503 rs782425893 |
288 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8457501 rs781944825 |
290 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8457500 rs782319391 |
290 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8457499 rs575658143 |
291 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398320923 rs782613309 |
292 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1567801583 CA398320928 |
292 | E>G | No |
ClinGen Ensembl |
|
|
CA398320935 rs1555583419 |
292 | E>Q | No |
ClinGen gnomAD |
|
|
rs782515558 CA8457497 |
293 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782245313 CA8457496 |
293 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs782465603 CA8457494 |
296 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1279268915 CA398320852 |
297 | S>F | No |
ClinGen TOPMed |
|
|
CA398320843 rs782508987 |
298 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA289095513 rs782508987 |
298 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8457492 rs527927776 |
299 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398320783 rs1555583411 |
303 | E>A | No |
ClinGen gnomAD |
|
|
CA8457489 rs782771077 |
305 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8457487 rs782152510 |
307 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs782067169 CA289095504 |
307 | M>V | No |
ClinGen gnomAD |
|
|
CA8457485 rs782057864 |
310 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782057864 CA8457484 |
310 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539782852 CA8457486 |
310 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398320671 rs1555583410 |
311 | D>Y | No |
ClinGen gnomAD |
|
|
rs781977563 CA8457483 |
312 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA398320626 rs1555583408 |
314 | E>K | No |
ClinGen gnomAD |
|
|
rs1433280527 CA398320613 |
315 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8457481 rs143380142 |
316 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457478 rs782190887 |
318 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8457479 rs782190887 |
318 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289095487 rs201659420 |
322 | W>C | No |
ClinGen Ensembl |
|
|
rs782484906 CA8457476 |
323 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs142651994 CA8457473 |
324 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8457474 rs782646751 |
324 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs782778636 CA8457471 |
326 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8457470 rs782473255 |
327 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555583328 CA398320404 |
328 | G>S | No |
ClinGen gnomAD |
|
|
CA398320379 rs1567801350 |
330 | R>G | No |
ClinGen Ensembl |
|
|
rs1555583326 CA398320352 |
331 | Q>H | No |
ClinGen gnomAD |
|
|
CA398320366 rs1555583327 |
331 | Q>K | No |
ClinGen gnomAD |
|
|
rs781948713 CA8457459 |
332 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868926106 CA398320346 |
332 | P>S | No |
ClinGen Ensembl |
|
|
CA398320349 rs868926106 |
332 | P>T | No |
ClinGen Ensembl |
|
|
rs782388049 CA8457458 |
333 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA289095276 rs768196943 |
334 | F>L | No |
ClinGen Ensembl |
|
|
rs1555583321 CA398320301 |
335 | I>N | No |
ClinGen gnomAD |
|
|
CA398320299 rs1555583321 |
335 | I>T | No |
ClinGen gnomAD |
|
|
rs377647331 CA8457457 |
336 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8457456 rs782679210 |
336 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs782199000 CA8457454 |
337 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457455 rs554136380 |
337 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8457453 rs782585564 |
338 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1195000625 CA398320272 |
338 | D>N | No |
ClinGen TOPMed |
|
|
CA398320246 rs868945659 |
339 | W>* | No |
ClinGen Ensembl |
|
|
CA8457452 rs782484700 |
339 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782653676 CA8457450 |
341 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555583316 CA398320212 |
342 | V>M | No |
ClinGen gnomAD |
|
|
rs782506838 CA8457449 |
343 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1555583313 CA398320186 |
344 | G>R | No |
ClinGen gnomAD |
|
|
rs1555583310 CA398320155 |
346 | V>A | No |
ClinGen gnomAD |
|
|
rs1555583310 CA398320153 |
346 | V>G | No |
ClinGen gnomAD |
|
|
rs1555583307 CA398320124 |
349 | A>T | No |
ClinGen gnomAD |
|
|
rs782797163 CA8457447 |
350 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402604593 CA398320104 |
350 | M>T | No |
ClinGen TOPMed |
|
|
CA398320096 rs1387943934 |
351 | A>T | No |
ClinGen TOPMed |
|
|
rs147754366 CA398320078 |
352 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457445 rs147754366 |
352 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369856308 CA8457446 |
352 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372346608 CA398320070 |
353 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8457444 rs782740766 |
353 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398320065 rs782740766 |
353 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457443 rs782124110 |
354 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555583302 CA398320030 |
356 | I>V | No |
ClinGen gnomAD |
|
|
rs1273371549 CA398320012 |
357 | S>* | No |
ClinGen TOPMed |
|
|
CA8457441 rs782415207 |
359 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555583294 CA398319963 |
361 | P>L | No |
ClinGen gnomAD |
|
|
CA289095225 rs902942336 |
361 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 362 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536132259 CA8457440 |
362 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568589200 COSM1381638 CA8457439 |
362 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs568589200 CA398319953 |
362 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555583286 CA398319943 |
363 | P>L | No |
ClinGen gnomAD |
|
|
CA8457438 rs782316928 |
363 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA398319940 rs1555583283 |
364 | S>A | No |
ClinGen gnomAD |
|
|
rs1555583282 CA398319937 |
364 | S>F | No |
ClinGen gnomAD |
|
|
CA8457437 rs782234572 |
365 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457436 rs550347415 |
366 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398319921 rs1555583279 |
367 | K>R | No |
ClinGen gnomAD |
|
|
CA398319909 rs1215008266 |
369 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA398319908 rs1215008266 |
369 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782244217 CA8457434 |
371 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA398319884 rs1467927282 |
372 | R>T | No |
ClinGen TOPMed |
|
|
rs1470406845 CA398319874 |
373 | H>Q | No |
ClinGen TOPMed |
|
|
CA8457433 rs139497113 |
373 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457432 rs782537449 |
374 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs781811496 CA8457431 |
374 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs113956530 CA289095182 |
375 | N>D | No |
ClinGen Ensembl |
|
|
rs782463230 CA8457429 |
376 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457428 rs145490253 |
376 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457426 rs782558128 |
380 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8457427 rs782558128 |
380 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8457425 rs781886720 |
380 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA289095156 rs1051785809 |
382 | Q>K | No |
ClinGen Ensembl |
|
|
rs782708674 CA8457424 |
383 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8457423 rs112195186 |
383 | R>P | No |
ClinGen ExAC TOPMed |
|
|
CA289095122 rs112195186 |
383 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA289095107 rs149693220 |
384 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA289095093 rs111316494 |
385 | H>L | No |
ClinGen Ensembl |
|
|
CA289095097 rs111316494 |
385 | H>P | No |
ClinGen Ensembl |
|
|
rs782301746 CA8457421 |
385 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457420 rs139553576 |
386 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781988485 CA8457418 |
387 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457419 rs781988485 |
387 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457417 rs782420504 |
387 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs782420504 CA398319799 |
387 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8457416 rs782274235 |
389 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457415 COSM177459 rs150566083 |
389 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398319792 rs782274235 |
389 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1597810465 CA398319769 |
392 | N>T | No |
ClinGen Ensembl |
|
|
CA398319759 rs1555583253 |
393 | S>F | No |
ClinGen gnomAD |
|
|
rs139385926 CA8457412 COSM3937299 |
394 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA289095060 rs909357335 |
394 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782671103 CA8457409 |
395 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782671103 CA8457410 |
395 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368991682 CA8457411 |
395 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs570920091 CA8457408 |
398 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8457407 rs201964332 |
398 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8457405 rs782476690 |
399 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555583248 CA398319733 |
399 | A>V | No |
ClinGen gnomAD |
|
|
VAR_012985 CA8457404 rs704 |
400 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1555583242 CA398319717 |
402 | L>M | No |
ClinGen Ensembl |
|
|
CA8457403 rs113837940 |
403 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457401 rs782018544 |
404 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148089887 CA398319686 |
407 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148089887 CA8457400 |
407 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398319679 rs1555583237 |
408 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782048285 CA8457399 |
409 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1416195722 CA398319659 |
410 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1011726388 CA289094997 |
412 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA398319637 rs1555583235 |
414 | A>T | No |
ClinGen TOPMed |
|
|
rs1555583233 CA398319631 |
415 | N>H | No |
ClinGen gnomAD |
|
|
rs1597810410 CA398319624 |
415 | N>K | No |
ClinGen Ensembl |
|
|
CA398319617 rs1597810407 |
416 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 419 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398319590 rs1339543579 |
420 | Y>H | No |
ClinGen TOPMed |
|
|
CA398319562 rs1555583228 |
423 | D>E | No |
ClinGen gnomAD |
|
|
CA8457398 rs111707768 |
423 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398319547 rs1555583226 |
425 | L>P | No |
ClinGen gnomAD |
|
|
CA8457396 rs782245801 |
426 | V>G | No |
ClinGen ExAC |
|
|
rs201327947 CA8457397 |
426 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201327947 CA398319545 |
426 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782350885 CA8457391 |
427 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs782221793 CA8457390 |
427 | P>L | No |
ClinGen ExAC |
|
|
rs782350885 CA8457392 |
427 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782350885 CA8457393 |
427 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8457388 rs782509986 |
428 | A>S | No |
ClinGen ExAC |
|
|
CA8457385 rs782448217 |
429 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8457386 rs782678679 |
429 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA8457383 rs782720999 |
430 | C>R | No |
ClinGen ExAC |
|
|
rs782132704 CA8457382 |
432 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1339986885 CA398319507 |
433 | I>N | No |
ClinGen TOPMed |
|
|
rs782144633 CA8457379 |
434 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA398319496 rs1555583217 |
435 | S>C | No |
ClinGen gnomAD |
|
|
CA398319493 rs1272140887 |
435 | S>N | No |
ClinGen TOPMed |
|
|
CA398319489 rs1597810365 |
435 | S>R | No |
ClinGen Ensembl |
|
|
CA398319488 rs1486548316 |
436 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8457377 rs782457121 |
437 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555583214 CA398319480 |
437 | F>V | No |
ClinGen gnomAD |
|
|
rs3211344 CA398319469 |
438 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1006705877 CA289094928 |
441 | G>A | No |
ClinGen Ensembl |
|
|
rs1231290133 CA398319432 |
442 | D>E | No |
ClinGen TOPMed |
|
|
rs1555583184 CA398319435 |
442 | D>G | No |
ClinGen gnomAD |
|
|
CA8457359 rs781832054 |
443 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1555583177 CA398319417 |
444 | Y>* | No |
ClinGen gnomAD |
|
|
CA398319424 rs1555583179 |
444 | Y>N | No |
ClinGen gnomAD |
|
|
rs578206172 CA289094776 |
445 | Y>* | No |
ClinGen Ensembl |
|
|
rs782715278 CA8457358 |
445 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs782135286 CA8457357 |
446 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781987117 CA8457356 |
446 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143789007 CA8457355 |
448 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781937745 CA8457353 COSM1381637 |
450 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs782315239 COSM1381636 CA8457352 |
450 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs782227939 CA8457351 |
451 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs374073338 CA8457349 |
452 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8457350 rs560780885 |
452 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431831732 CA398319372 |
453 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs542206705 CA8457345 |
453 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8457347 rs542206705 |
453 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542206705 CA8457346 |
453 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782468195 CA8457343 |
455 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA289094740 rs781890691 |
456 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8457342 rs141368634 |
456 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555583162 CA398319344 |
458 | D>G | No |
ClinGen gnomAD |
|
|
CA289094719 rs1029625225 |
460 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs994071377 CA289094714 |
461 | Y>C | No |
ClinGen Ensembl |
|
|
COSM256181 rs201545006 CA8457338 |
463 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs782717000 CA8457337 |
463 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782052801 CA8457336 |
465 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457334 rs782733119 |
466 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8457333 rs782111024 |
467 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8457330 rs782190660 |
467 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs782417468 CA8457331 |
467 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8457332 rs782417468 |
467 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs781913404 CA8457329 |
468 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA398319268 rs1286468489 |
471 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs570981769 CA8457328 |
471 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398319253 rs1246116889 |
473 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs887866075 CA289094662 |
473 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1197922786 CA398319249 |
474 | A>D | No |
ClinGen TOPMed |
|
|
CA398319251 rs1487825672 |
474 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1487825672 CA398319250 |
474 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs375795577 CA398319237 |
476 | G>D | No |
ClinGen TOPMed |
|
|
rs1252996829 CA398319238 |
476 | G>R | No |
ClinGen TOPMed |
|
|
rs375795577 CA289094650 |
476 | G>V | No |
ClinGen TOPMed |
|
|
rs1179600787 CA398319231 |
477 | H>R | No |
ClinGen TOPMed gnomAD |
No associated diseases with P04004
11 regional properties for P04004
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Hemopexin-like domain | 154 - 472 | IPR000585 |
| domain | Somatomedin B domain | 20 - 63 | IPR001212 |
| conserved_site | Hemopexin, conserved site | 196 - 210 | IPR018486-1 |
| conserved_site | Hemopexin, conserved site | 335 - 350 | IPR018486-2 |
| repeat | Hemopexin-like repeats | 158 - 204 | IPR018487-1 |
| repeat | Hemopexin-like repeats | 203 - 252 | IPR018487-2 |
| repeat | Hemopexin-like repeats | 251 - 305 | IPR018487-3 |
| repeat | Hemopexin-like repeats | 419 - 472 | IPR018487-4 |
| domain | Somatomedin B domain, chordata | 19 - 32 | IPR020436-1 |
| domain | Somatomedin B domain, chordata | 36 - 47 | IPR020436-2 |
| domain | Somatomedin B domain, chordata | 48 - 59 | IPR020436-3 |
13 GO annotations of cellular component
| Name | Definition |
|---|---|
| alphav-beta3 integrin-vitronectin complex | A protein complex that consists of an alphav-beta3 integrin complex bound to vitronectin. |
| basement membrane | A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. |
| blood microparticle | A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular 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. |
| Golgi lumen | The volume enclosed by the membranes of any cisterna or subcompartment of the Golgi apparatus, including the cis- and trans-Golgi networks. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| peptidase inhibitor complex | A protein complex which is capable of peptidase inhibitor activity. |
| protein complex involved in cell-matrix adhesion | Any protein complex that is capable of carrying out some part of the process of cell-matrix adhesion. |
| rough endoplasmic reticulum lumen | The volume enclosed by the membranes of the rough endoplasmic reticulum. |
8 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%). |
| extracellular matrix binding | Binding to a component of the extracellular matrix. |
| extracellular matrix structural constituent | The action of a molecule that contributes to the structural integrity of the extracellular matrix. |
| 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. |
| identical protein binding | Binding to an identical protein or proteins. |
| integrin binding | Binding to an integrin. |
| polysaccharide binding | Binding to a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. |
| scavenger receptor activity | Combining with any modified low-density lipoprotein (LDL) or other polyanionic ligand and delivering the ligand into the cell via endocytosis. Ligands include acetylated and oxidized LDL, Gram-positive and Gram-negative bacteria, apoptotic cells, amyloid-beta fibrils, and advanced glycation end products (AGEs). |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell adhesion mediated by integrin | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| endodermal cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an endoderm cell, a cell of the inner of the three germ layers of the embryo. |
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| liver regeneration | The regrowth of lost or destroyed liver. |
| negative regulation of blood coagulation | Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. |
| negative regulation of endopeptidase activity | Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. |
| negative regulation of fibrinolysis | Any process that stops, prevents, or reduces the frequency, rate or extent of fibrinolysis, an ongoing process that solubilizes fibrin, resulting in the removal of small blood clots. |
| oligodendrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. |
| positive regulation of cell-substrate adhesion | Any process that increases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| positive regulation of protein binding | Any process that activates or increases the frequency, rate or extent of protein binding. |
| positive regulation of receptor-mediated endocytosis | Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. |
| positive regulation of smooth muscle cell migration | Any process that activates, maintains or increases the frequency, rate or extent of smooth muscle cell migration. |
| positive regulation of vascular endothelial growth factor receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of vascular endothelial growth factor receptor signaling pathway activity. |
| positive regulation of wound healing | Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. |
| protein polymerization | The process of creating protein polymers, compounds composed of a large number of component monomers; polymeric proteins may be made up of different or identical monomers. Polymerization occurs by the addition of extra monomers to an existing poly- or oligomeric protein. |
| regulation of cell adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. |
| smooth muscle cell-matrix adhesion | The binding of a smooth muscle cell to the extracellular matrix via adhesion molecules. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZV7 | HPX | Hemopexin | Bos taurus (Bovine) | PR |
| O77656 | MMP13 | Collagenase 3 | Bos taurus (Bovine) | PR |
| Q9GLE5 | MMP2 | 72 kDa type IV collagenase | Bos taurus (Bovine) | PR |
| Q90611 | MMP2 | 72 kDa type IV collagenase | Gallus gallus (Chicken) | PR |
| Q8MPP3 | Mmp2 | Matrix metalloproteinase-2 | Drosophila melanogaster (Fruit fly) | PR |
| P45452 | MMP13 | Collagenase 3 | Homo sapiens (Human) | PR |
| Q99542 | MMP19 | Matrix metalloproteinase-19 | Homo sapiens (Human) | PR |
| Q9NPA2 | MMP25 | Matrix metalloproteinase-25 | Homo sapiens (Human) | PR |
| Q9H239 | MMP28 | Matrix metalloproteinase-28 | Homo sapiens (Human) | PR |
| P34960 | Mmp12 | Macrophage metalloelastase | Mus musculus (Mouse) | PR |
| P33435 | Mmp13 | Collagenase 3 | Mus musculus (Mouse) | PR |
| P33434 | Mmp2 | 72 kDa type IV collagenase | Mus musculus (Mouse) | PR |
| P28862 | Mmp3 | Stromelysin-1 | Mus musculus (Mouse) | PR |
| P23097 | Mmp13 | Collagenase 3 | Rattus norvegicus (Rat) | PR |
| Q63341 | Mmp12 | Macrophage metalloelastase | Rattus norvegicus (Rat) | PR |
| P33436 | Mmp2 | 72 kDa type IV collagenase | Rattus norvegicus (Rat) | PR |
| Q6PHG2 | hpx | Hemopexin | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPLRPLLIL | ALLAWVALAD | QESCKGRCTE | GFNVDKKCQC | DELCSYYQSC | CTDYTAECKP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QVTRGDVFTM | PEDEYTVYDD | GEEKNNATVH | EQVGGPSLTS | DLQAQSKGNP | EQTPVLKPEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EAPAPEVGAS | KPEGIDSRPE | TLHPGRPQPP | AEEELCSGKP | FDAFTDLKNG | SLFAFRGQYC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YELDEKAVRP | GYPKLIRDVW | GIEGPIDAAF | TRINCQGKTY | LFKGSQYWRF | EDGVLDPDYP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RNISDGFDGI | PDNVDAALAL | PAHSYSGRER | VYFFKGKQYW | EYQFQHQPSQ | EECEGSSLSA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VFEHFAMMQR | DSWEDIFELL | FWGRTSAGTR | QPQFISRDWH | GVPGQVDAAM | AGRIYISGMA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PRPSLAKKQR | FRHRNRKGYR | SQRGHSRGRN | QNSRRPSRAT | WLSLFSSEES | NLGANNYDDY |
| 430 | 440 | 450 | 460 | 470 | |
| RMDWLVPATC | EPIQSVFFFS | GDKYYRVNLR | TRRVDTVDPP | YPRSIAQYWL | GCPAPGHL |