P45452
PR
Gene name |
MMP13 |
Protein name |
Collagenase 3 |
Names |
Matrix metalloproteinase-13, MMP-13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4322 |
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
49 structures for P45452
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1EUB | NMR | - | A | 104-274 | PDB |
| 1FLS | NMR | - | A | 104-268 | PDB |
| 1FM1 | NMR | - | A | 104-268 | PDB |
| 1PEX | X-ray | 270 A | A | 265-471 | PDB |
| 1XUC | X-ray | 170 A | A/B | 104-274 | PDB |
| 1XUD | X-ray | 180 A | A/B | 104-274 | PDB |
| 1XUR | X-ray | 185 A | A/B | 104-274 | PDB |
| 1YOU | X-ray | 230 A | A/B | 104-271 | PDB |
| 1ZTQ | X-ray | 200 A | A/B/C/D | 104-268 | PDB |
| 2D1N | X-ray | 237 A | A/B | 104-269 | PDB |
| 2E2D | X-ray | 200 A | A | 104-268 | PDB |
| 2OW9 | X-ray | 174 A | A/B | 104-270 | PDB |
| 2OZR | X-ray | 230 A | A/B/C/D/E/F/G/H | 104-270 | PDB |
| 2PJT | X-ray | 280 A | A/B/C/D | 104-268 | PDB |
| 2YIG | X-ray | 170 A | A/B | 104-274 | PDB |
| 3ELM | X-ray | 190 A | A/B | 104-274 | PDB |
| 3I7G | X-ray | 195 A | A/B | 104-274 | PDB |
| 3I7I | X-ray | 221 A | A/B | 104-274 | PDB |
| 3KEC | X-ray | 205 A | A/B | 105-267 | PDB |
| 3KEJ | X-ray | 230 A | A/B | 104-270 | PDB |
| 3KEK | X-ray | 197 A | A/B | 104-270 | PDB |
| 3KRY | X-ray | 190 A | A/B/C/D | 104-267 | PDB |
| 3LJZ | X-ray | 200 A | A/B/C/D | 104-267 | PDB |
| 3O2X | X-ray | 190 A | A/B/C/D | 105-267 | PDB |
| 3TVC | X-ray | 243 A | A | 104-272 | PDB |
| 3WV1 | X-ray | 198 A | A/B | 104-274 | PDB |
| 3WV2 | X-ray | 230 A | A/B | 104-274 | PDB |
| 3WV3 | X-ray | 160 A | A/B | 104-274 | PDB |
| 3ZXH | X-ray | 130 A | A/B | 104-274 | PDB |
| 456C | X-ray | 240 A | A/B | 104-271 | PDB |
| 4A7B | X-ray | 220 A | A/B | 104-272 | PDB |
| 4FU4 | X-ray | 285 A | PDB | ||
| 4FVL | X-ray | 244 A | PDB | ||
| 4G0D | X-ray | 254 A | PDB | ||
| 4JP4 | X-ray | 143 A | A/B | 103-274 | PDB |
| 4JPA | X-ray | 200 A | A/B | 103-274 | PDB |
| 4L19 | X-ray | 166 A | A/B | 104-274 | PDB |
| 5B5O | X-ray | 120 A | A/B | 103-274 | PDB |
| 5B5P | X-ray | 160 A | A/B | 103-274 | PDB |
| 5BOT | X-ray | 185 A | A/B | 104-274 | PDB |
| 5BOY | X-ray | 203 A | A/B | 104-274 | PDB |
| 5BPA | X-ray | 179 A | A/B | 104-274 | PDB |
| 5UWK | X-ray | 160 A | A/B | 104-274 | PDB |
| 5UWL | X-ray | 255 A | A/B | 104-274 | PDB |
| 5UWM | X-ray | 162 A | A/B | 104-274 | PDB |
| 5UWN | X-ray | 320 A | A/B/C/D/E | 104-274 | PDB |
| 7JU8 | X-ray | 200 A | A/B | 104-274 | PDB |
| 830C | X-ray | 160 A | A/B | 104-271 | PDB |
| AF-P45452-F1 | Predicted | AlphaFoldDB |
427 variants for P45452
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002069755 RCV001106799 CA6252095 rs2276093 RCV001106800 |
8 | A>V | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000362352 CA6252090 RCV000307701 RCV000906330 rs61733406 |
18 | R>W | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001196364 rs558630699 |
69 | R>L | Metaphyseal chondrodysplasia, Spahr type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565256477 CA382232842 RCV000757993 RCV001861874 |
71 | M>T | Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121909498 RCV000010051 VAR_063432 CA120434 |
74 | F>S | Metaphyseal anadysplasia 1, autosomal dominant MANDP1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA382232781 rs1301955422 RCV001293681 |
75 | F>L | Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_032753 CA120433 rs121909497 RCV000010050 RCV002512957 |
75 | F>S | Spondyloepimetaphyseal dysplasia, Missouri type SEMDM; abnormal intracellular autoactivation and autodegradation within the ER/Golgi resulting in the secretion of small and inactive fragments [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001851779 CA120435 VAR_063433 RCV000010052 rs121909499 |
91 | M>T | Metaphyseal anadysplasia 1, autosomal dominant MANDP1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001322935 CA6252030 RCV000312854 RCV000402601 rs151254531 |
101 | V>L | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000162348 rs369083541 CA186148 RCV001386014 |
109 | R>* | Metaphyseal chondrodysplasia, Spahr type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6251979 RCV001518528 RCV001103726 RCV001103727 rs181426884 |
158 | D>N | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1860664851 RCV001253346 |
164 | M>I | Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000278733 rs145243532 RCV000352370 RCV001548674 CA6251977 |
170 | K>T | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000303456 CA186146 rs140059558 VAR_073418 RCV000162347 |
207 | W>G | Metaphyseal chondrodysplasia, Spahr type MDST [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000373260 RCV000337269 CA10633180 rs782723542 |
229 | G>V | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_063434 RCV000010053 CA120436 rs121909500 |
232 | H>N | Metaphyseal chondrodysplasia, Spahr type MANDP1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002555016 RCV001103724 CA382229221 RCV001103725 rs1555017407 |
237 | G>E | Metaphyseal anadysplasia Inborn genetic diseases Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6251902 rs140993310 RCV001582933 RCV000377094 RCV000282643 |
257 | D>V | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106715 RCV001106716 CA6251872 rs781841656 |
273 | P>R | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002520660 RCV000309844 rs142601143 RCV000273496 RCV001313898 CA6251831 |
312 | H>R | Metaphyseal anadysplasia Inborn genetic diseases Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6251828 RCV000368048 RCV003165820 RCV000313334 RCV001850597 rs367612153 |
317 | D>E | Metaphyseal anadysplasia Inborn genetic diseases Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000334477 rs185832993 RCV000394865 CA6251823 RCV001502970 |
323 | T>M | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6251821 RCV000406390 rs782152104 RCV000298241 |
333 | R>C | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000778297 CA382227574 rs1250689196 |
355 | W>* | MMP13-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000342010 rs145425594 RCV000406196 CA10633176 |
361 | D>G | Variant assessed as Somatic; impact. Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000286939 rs886047557 CA10636848 RCV000381273 |
375 | L>F | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000326758 CA6251771 VAR_020534 rs17860568 RCV000290440 RCV000956999 |
390 | D>G | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000778296 rs782085134 |
458 | R>missing | MMP13-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000276220 RCV000370540 CA6251674 RCV000988628 RCV001054763 rs142064825 |
458 | R>C | Metaphyseal anadysplasia Spondyloepimetaphyseal dysplasia, Missouri type Metaphyseal chondrodysplasia, Spahr type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6251662 RCV000661952 rs781838470 |
472 | C>C | Metaphyseal chondrodysplasia, Spahr type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA227377174 VAR_011971 rs554797 |
2 | H>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs762278457 CA6252099 |
3 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1469133960 CA382233932 |
3 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764247687 CA6252097 |
5 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs955335932 CA227377160 |
5 | V>F | No |
ClinGen Ensembl |
|
|
rs771778188 CA227377147 |
6 | L>P | No |
ClinGen Ensembl |
|
|
rs760915237 CA6252096 |
7 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs760915237 CA382233887 |
7 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA382233884 rs1448952419 |
8 | A>T | No |
ClinGen gnomAD |
|
|
rs1204787763 CA382233872 |
9 | F>L | No |
ClinGen gnomAD |
|
|
CA6252094 rs772208586 |
11 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA382233846 rs1317290108 |
11 | F>I | No |
ClinGen gnomAD |
|
|
CA6252092 rs774417428 |
14 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 14 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382233781 rs1314708588 |
15 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 16 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346763162 CA382233758 |
17 | C>Y | No |
ClinGen gnomAD |
|
|
CA6252089 rs777733493 |
18 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6252086 rs143427641 |
19 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1205986455 CA382233738 |
21 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6252084 rs148856037 |
23 | P>L | No |
ClinGen ESP ExAC |
|
|
CA6252085 rs754580422 |
23 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs779518494 CA6252083 |
24 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs138415943 CA6252081 |
24 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6252080 rs138415943 |
24 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138415943 CA6252082 |
24 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760827302 CA227377040 |
26 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1192694481 CA382233713 |
26 | G>D | No |
ClinGen gnomAD |
|
|
rs760827302 CA6252078 |
26 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6252076 rs150142500 |
29 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150142500 CA6252077 |
29 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6252074 COSM71660 rs774134193 |
30 | D>N | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA382233612 rs777270631 |
33 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1289127552 COSM685756 CA382233616 |
33 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA227377032 rs777270631 |
33 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs943039258 CA227377016 |
34 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA227377027 rs1039389349 |
34 | E>K | No |
ClinGen TOPMed |
|
|
rs1398989766 CA382233577 |
35 | D>E | No |
ClinGen gnomAD |
|
|
rs770857273 CA6252072 |
37 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000173282 CA238750 rs794726905 |
37 | Q>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA382233519 rs1466850005 |
39 | A>E | No |
ClinGen gnomAD |
|
|
CA6252071 rs369436172 |
40 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6252058 COSM1350433 rs767829684 |
41 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs575844026 CA227376909 |
42 | Y>* | No |
ClinGen 1000Genomes |
|
|
CA227376915 rs112742775 |
42 | Y>H | No |
ClinGen Ensembl |
|
|
CA382233339 rs1432846087 |
44 | R>I | No |
ClinGen gnomAD |
|
|
CA382233351 rs1432846087 |
44 | R>T | No |
ClinGen gnomAD |
|
|
CA6252053 rs773347006 |
49 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1236345224 CA382233242 |
49 | P>S | No |
ClinGen gnomAD |
|
|
CA6252052 rs765090200 |
50 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs776309041 COSM3397366 CA6252050 |
53 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6252049 rs748106896 |
53 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382233146 rs1225033806 |
54 | G>* | No |
ClinGen gnomAD |
|
|
rs775005629 CA6252047 |
55 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA6252045 CA6252046 rs749793838 |
58 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408698282 CA382233043 |
59 | N>K | No |
ClinGen gnomAD |
|
|
rs183292652 CA227376878 |
60 | A>G | No |
ClinGen 1000Genomes |
|
|
CA227376877 rs183292652 |
60 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1591159669 CA382232999 |
62 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 63 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382232953 rs1156386841 |
64 | M>I | No |
ClinGen TOPMed |
|
|
CA6252044 rs111947721 |
64 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1346084530 CA382232964 |
64 | M>T | No |
ClinGen gnomAD |
|
|
CA382232972 rs111947721 |
64 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs541024120 CA227376871 |
67 | R>S | No |
ClinGen Ensembl |
|
|
rs1362084127 CA382232913 |
67 | R>W | No |
ClinGen TOPMed |
|
|
rs576963788 CA227376870 |
68 | L>F | No |
ClinGen Ensembl |
|
|
CA6252043 rs558630699 |
69 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA227376862 rs1021948203 |
70 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs146526422 CA227376857 |
71 | M>L | No |
ClinGen ESP |
|
|
CA6252040 rs755164262 |
76 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6252041 rs755164262 |
76 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766473955 CA6252038 |
78 | E>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001319281 CA6252036 rs371513455 |
82 | K>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382232640 rs1324740956 |
83 | L>I | No |
ClinGen gnomAD |
|
|
rs201603479 CA227376817 |
83 | L>P | No |
ClinGen Ensembl |
|
|
rs945093161 CA227376811 |
84 | D>E | No |
ClinGen TOPMed |
|
|
RCV001309037 rs1860679213 |
84 | D>missing | No |
ClinVar dbSNP |
|
|
CA6252034 rs761873360 |
86 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6252035 rs765212942 |
86 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776419636 CA6252033 |
88 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1222082112 CA382232544 |
88 | L>V | No |
ClinGen TOPMed |
|
|
rs1289660959 CA382232516 |
89 | D>G | No |
ClinGen TOPMed |
|
|
CA227376791 rs12295719 |
89 | D>H | No |
ClinGen Ensembl |
|
|
rs1307931153 CA382232503 |
90 | V>I | No |
ClinGen gnomAD |
|
|
rs1489541176 CA382232488 |
91 | M>V | No |
ClinGen TOPMed |
|
|
rs1211493055 CA382232453 |
92 | K>N | No |
ClinGen TOPMed |
|
|
rs1247325028 CA382232434 |
93 | K>N | No |
ClinGen gnomAD |
|
|
RCV000373339 rs886042854 |
96 | C>missing | No |
ClinVar dbSNP |
|
|
rs760359971 CA6252031 |
96 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 97 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA227376785 rs886569117 |
97 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 100 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM107307 rs148152034 CA227376783 |
100 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 102 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6252027 rs773873638 |
103 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs995121602 CA227376777 |
104 | Y>C | No |
ClinGen Ensembl |
|
|
CA382232229 rs1164348381 |
105 | N>D | No |
ClinGen gnomAD |
|
|
CA6252026 rs748610569 |
105 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1425186214 CA382232223 |
105 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 106 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6252024 rs781565326 |
106 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 107 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382232190 rs1382846155 |
108 | P>T | No |
ClinGen TOPMed |
|
|
CA6252022 rs189974040 |
109 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189974040 CA227376751 |
109 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA382232150 rs1487133696 |
111 | L>V | No |
ClinGen gnomAD |
|
|
rs548322553 CA382232057 |
115 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6252021 rs548322553 |
115 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1052240622 CA227376716 |
116 | M>K | No |
ClinGen Ensembl |
|
|
rs779122021 CA6252000 |
124 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382231718 rs1386117133 |
126 | T>I | No |
ClinGen gnomAD |
|
|
rs757345664 CA6251999 |
126 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs753779683 CA6251998 |
127 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1463813227 CA382231680 |
128 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6251997 rs777621918 |
129 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs983068618 CA227376271 |
130 | T>I | No |
ClinGen TOPMed |
|
|
CA227376270 rs973575127 |
131 | H>P | No |
ClinGen Ensembl |
|
|
rs759134930 CA6251994 |
135 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6251993 rs759134930 |
135 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751273414 CA6251992 |
136 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438893873 CA382231520 |
137 | A>V | No |
ClinGen gnomAD |
|
|
CA382231517 rs1253355235 |
138 | F>L | No |
ClinGen gnomAD |
|
|
rs765872542 CA6251991 |
139 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA382231447 rs1457541731 |
141 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 141 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 141 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762416563 CA6251989 |
143 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769000690 CA6251987 |
146 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs368343121 CA6251986 |
147 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374419716 CA243267 RCV000177158 |
148 | V>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA227376226 rs868821032 |
149 | T>S | No |
ClinGen Ensembl |
|
|
CA6251984 rs371894268 |
150 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1030769829 CA227376221 |
150 | P>L | No |
ClinGen Ensembl |
|
|
CA382231234 rs1337207775 |
154 | T>A | No |
ClinGen gnomAD |
|
|
rs771022798 CA6251983 |
154 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs998845680 CA227376216 |
155 | R>I | No |
ClinGen Ensembl |
|
|
rs143292324 CA6251982 |
155 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368161332 CA382231182 |
157 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777940207 COSM1704499 CA6251981 |
157 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA382231062 rs1177266743 |
163 | I>T | No |
ClinGen gnomAD |
|
|
rs148746302 CA227376210 |
165 | I>M | No |
ClinGen ESP |
|
|
rs780955466 CA6251978 |
166 | S>F | No |
ClinGen ExAC TOPMed |
|
|
rs1439642772 CA382230962 |
168 | G>V | No |
ClinGen gnomAD |
|
|
rs1381097234 CA382230936 |
169 | I>M | No |
ClinGen gnomAD |
|
|
rs145243532 CA382230914 |
170 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202231908 CA6251957 |
171 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227376075 rs928951639 |
172 | H>R | No |
ClinGen Ensembl |
|
|
CA382230698 rs1342030737 |
177 | P>L | No |
ClinGen gnomAD |
|
|
CA382230711 rs1418520799 |
177 | P>T | No |
ClinGen TOPMed |
|
|
RCV001340235 CA6251953 rs764647902 |
180 | G>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs756865618 CA6251952 |
181 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1398787570 CA382230633 |
181 | P>T | No |
ClinGen gnomAD |
|
|
rs1167479111 CA382230546 |
187 | H>R | No |
ClinGen gnomAD |
|
|
rs1591158841 CA382230554 |
187 | H>Y | No |
ClinGen Ensembl |
|
|
rs1401135079 CA382230522 |
188 | A>V | No |
ClinGen TOPMed |
|
|
CA382230516 rs1404123255 |
189 | F>L | No |
ClinGen gnomAD |
|
|
CA382230484 rs1413504149 |
190 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6251951 rs753232756 |
192 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs768090194 CA6251950 |
193 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1490513984 CA382230411 |
195 | Y>C | No |
ClinGen gnomAD |
|
|
rs941750303 CA227376055 |
195 | Y>H | No |
ClinGen Ensembl |
|
|
CA382230389 rs1329653151 |
197 | G>E | No |
ClinGen TOPMed |
|
|
CA6251948 rs150048151 |
198 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs910750565 CA227376053 |
199 | A>T | No |
ClinGen gnomAD |
|
|
rs1353219268 CA382230331 |
201 | F>S | No |
ClinGen TOPMed |
|
|
CA6251946 rs763075525 |
202 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA382230303 rs1218658922 |
203 | D>G | No |
ClinGen gnomAD |
|
|
CA6251945 rs773554450 |
205 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769733639 CA6251944 |
206 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769733639 CA382230262 |
206 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs140059558 CA6251943 |
207 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1434906211 CA382230243 |
208 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1434906211 CA382230239 |
208 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768511359 CA6251942 |
210 | S>N | No |
ClinGen ExAC |
|
|
CA6251930 rs782024999 |
213 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6251929 rs782422925 |
215 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs782247583 CA6251928 |
215 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs782355119 CA6251927 |
217 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1565255305 CA382229462 |
218 | L>P | No |
ClinGen Ensembl |
|
|
CA6251925 rs782177947 |
218 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA382229450 rs1336004455 |
219 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM3397364 rs147544761 CA6251924 |
221 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA382229415 rs1439598949 |
222 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6251921 rs782641487 |
225 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA382229363 rs1236995503 |
226 | H>Y | No |
ClinGen TOPMed |
|
|
CA6251919 rs782723542 |
229 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA382229319 rs782723542 |
229 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA227374662 rs1009968879 |
231 | D>H | No |
ClinGen Ensembl |
|
|
rs782443296 CA6251917 |
236 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382229235 rs782443296 |
236 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782443296 CA6251918 |
236 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000598574 rs1555017404 |
237 | G>missing | No |
ClinVar dbSNP |
|
|
CA382229178 rs1555017403 |
240 | M>I | No |
ClinGen gnomAD |
|
|
rs1475442392 CA382229183 |
240 | M>T | No |
ClinGen TOPMed |
|
|
CA6251915 rs781809838 |
241 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs537649362 CA6251914 |
243 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6251913 rs782174903 |
244 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782174903 CA382229149 |
244 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565255250 CA382229139 |
245 | T>I | No |
ClinGen Ensembl |
|
|
rs782797921 CA6251911 |
247 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382229117 rs1555017398 |
247 | T>I | No |
ClinGen gnomAD |
|
|
CA382229109 COSM466222 rs868971893 |
248 | G>D | kidney central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs782514579 CA6251909 |
248 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6251908 rs782322969 |
249 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1430509597 CA382229084 |
250 | S>N | No |
ClinGen TOPMed |
|
|
CA382229070 rs1555017396 |
251 | H>P | No |
ClinGen gnomAD |
|
|
rs571888994 CA6251907 |
251 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6251906 rs782033346 |
252 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6251904 rs782254764 |
253 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA382229045 rs1565255218 |
253 | M>V | No |
ClinGen Ensembl |
|
|
rs1215391516 CA382229031 |
254 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382229023 rs1278004037 |
254 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA382229011 rs1591157628 |
255 | P>L | No |
ClinGen Ensembl |
|
|
CA6251903 rs782589629 |
256 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs797044754 RCV000385539 |
258 | D>missing | No |
ClinVar dbSNP |
|
|
CA6251900 COSM3979017 rs782584939 |
258 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6251899 rs782539182 |
260 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs202123339 CA6251897 |
262 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6251896 rs782529077 |
262 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA382228924 rs782529077 |
262 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000416247 CA16043823 rs1057519177 |
263 | Q>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA6251895 rs781829974 |
265 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555017381 CA382228875 |
266 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA382228866 rs1555017380 |
267 | G>S | No |
ClinGen gnomAD |
|
|
rs368628653 CA6251877 |
268 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368628653 CA6251876 |
268 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001352105 rs1860588352 |
268 | P>S | No |
ClinVar dbSNP |
|
|
rs1555017162 CA382228518 |
271 | E>K | No |
ClinGen gnomAD |
|
|
rs782083671 CA382228491 |
273 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782083671 CA6251873 |
273 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382228482 rs1565254577 |
274 | N>H | No |
ClinGen Ensembl |
|
|
CA382228462 rs1555017158 |
275 | P>H | No |
ClinGen gnomAD |
|
|
CA382228464 COSM3666032 rs1555017159 |
275 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1304847374 CA382228416 |
279 | K>E | No |
ClinGen TOPMed |
|
|
CA6251869 rs782018679 COSM922314 |
280 | T>M | Variant assessed as Somatic; 0.0 impact. liver oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs148230434 CA6251867 |
281 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782353607 CA6251866 |
282 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382228385 rs1441679676 |
283 | K>R | No |
ClinGen TOPMed |
|
|
rs782239802 COSM540569 CA6251864 |
284 | C>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA382228379 rs1555017151 |
284 | C>Y | No |
ClinGen gnomAD |
|
|
CA382228350 rs1555017150 |
286 | P>L | No |
ClinGen Ensembl |
|
|
rs149330684 CA6251863 |
286 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1704496 rs1555017148 CA382228334 |
287 | S>F | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA382228309 rs1591156461 |
289 | S>Y | No |
ClinGen Ensembl |
|
|
rs782286302 CA6251861 |
292 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782620150 CA6251860 RCV000305373 |
295 | S>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1187312618 CA382228222 |
297 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6251859 rs782527417 |
297 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169839541 CA382228208 |
298 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382228212 rs1451869364 |
298 | G>R | No |
ClinGen TOPMed |
|
|
CA382228165 rs1555017142 |
301 | M>I | No |
ClinGen gnomAD |
|
|
rs979816589 CA227373172 |
301 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6251858 rs782210300 |
302 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA382228123 rs1413080061 |
304 | K>R | No |
ClinGen TOPMed |
|
|
rs1555017140 CA382228090 |
306 | R>K | No |
ClinGen gnomAD |
|
|
rs1555017028 CA382227956 |
309 | W>* | No |
ClinGen gnomAD |
|
|
rs782298324 CA6251835 |
309 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA6251834 rs782628284 |
310 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6251833 rs782535983 |
310 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA382227937 rs782535983 |
310 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171580921 CA382227880 |
315 | Q>* | No |
ClinGen TOPMed |
|
|
CA382227846 rs1555017022 |
317 | D>A | No |
ClinGen gnomAD |
|
|
CA6251829 rs781880258 |
317 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs199992289 CA6251827 |
318 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs782093889 CA6251824 |
320 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA382227826 rs1383676503 |
320 | L>V | No |
ClinGen TOPMed |
|
|
CA382227823 rs1555017017 |
321 | F>L | No |
ClinGen gnomAD |
|
|
CA382227800 rs1339997896 |
324 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1555017013 CA382227787 |
326 | F>I | No |
ClinGen gnomAD |
|
|
CA382227779 rs1216045786 |
327 | W>G | No |
ClinGen TOPMed |
|
|
rs1555017012 CA382227753 |
330 | L>R | No |
ClinGen gnomAD |
|
|
CA382227742 rs1273449382 |
332 | N>S | No |
ClinGen TOPMed |
|
|
rs782035543 CA6251820 |
333 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782035543 CA382227736 |
333 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6251819 rs782377946 |
334 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6251817 rs782615439 RCV001338202 |
335 | D>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1264428143 CA382227713 |
337 | A>S | No |
ClinGen TOPMed |
|
|
CA382227698 rs1555017007 |
339 | E>G | No |
ClinGen gnomAD |
|
|
rs1555017007 CA382227696 |
339 | E>V | No |
ClinGen gnomAD |
|
|
rs1555017005 CA382227676 COSM922313 |
342 | S>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6251816 rs782358497 |
348 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA382227616 rs1555017004 |
350 | R>S | No |
ClinGen gnomAD |
|
|
CA6251793 rs370996115 |
354 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs886044803 RCV000271065 CA10604391 |
354 | F>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1444542148 CA382227570 |
355 | W>C | No |
ClinGen TOPMed |
|
|
CA382227575 rs1250689196 |
355 | W>L | No |
ClinGen TOPMed |
|
|
CA6251791 rs201397692 |
356 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs372747673 CA6251792 |
356 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382227567 rs201397692 |
356 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6251789 rs781855015 |
357 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937764257 CA227371909 |
357 | L>H | No |
ClinGen Ensembl |
|
| TCGA novel | 357 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6251790 rs781855015 |
357 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227371908 rs927671293 |
358 | N>T | No |
ClinGen Ensembl |
|
|
CA6251788 rs200148057 |
359 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382227553 rs1046611210 |
359 | G>D | No |
ClinGen gnomAD |
|
|
CA227371879 rs1046611210 |
359 | G>V | No |
ClinGen gnomAD |
|
|
rs61737008 CA382227545 |
360 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6251786 rs145425594 |
361 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782071486 CA6251784 |
362 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs782706431 CA6251785 |
362 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555016861 CA382227523 |
364 | E>G | No |
ClinGen gnomAD |
|
|
CA6251783 rs782025245 |
365 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 365 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382227500 rs1450579168 |
368 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs554666847 CA6251779 |
370 | I>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1312765383 CA382227482 |
370 | I>L | No |
ClinGen TOPMed |
|
|
CA382227483 rs1312765383 |
370 | I>V | No |
ClinGen TOPMed |
|
|
rs782180863 CA6251778 |
371 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1555016852 CA382227476 |
371 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1555016851 CA382227473 |
372 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 372 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6251777 rs112373498 |
373 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs879998813 CA382227456 |
374 | G>D | No |
ClinGen gnomAD |
|
|
CA382227458 rs879998813 |
374 | G>V | No |
ClinGen gnomAD |
|
|
CA382227425 rs1555016849 |
379 | V>G | No |
ClinGen gnomAD |
|
|
CA6251775 rs782292241 |
379 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs782292241 CA6251776 |
379 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6251774 rs782644052 |
382 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA382227406 rs1555016848 |
382 | I>V | No |
ClinGen gnomAD |
|
|
CA382227391 rs1555016846 |
384 | A>S | No |
ClinGen gnomAD |
|
|
rs1272118147 CA382227384 |
385 | A>T | No |
ClinGen TOPMed |
|
|
CA382227365 rs1555016845 |
386 | V>A | No |
ClinGen gnomAD |
|
|
CA6251773 rs782515671 |
387 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555016841 CA382227330 |
389 | E>K | No |
ClinGen gnomAD |
|
|
rs1555016840 CA382227305 |
390 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA382227288 rs1555016838 |
391 | T>A | No |
ClinGen gnomAD |
|
|
rs782505249 CA6251766 |
400 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6251767 rs782505249 |
400 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186280786 CA382227144 |
402 | V>A | No |
ClinGen TOPMed |
|
|
rs781863257 CA6251765 |
402 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6251764 rs782738749 |
403 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA382227119 rs1430488520 |
404 | R>* | No |
ClinGen TOPMed |
|
|
CA6251763 rs375595761 |
404 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782099092 CA6251738 |
404 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382226375 rs782328066 |
405 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6251737 rs190896822 |
405 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382226361 rs1412622791 |
407 | D>V | No |
ClinGen TOPMed |
|
|
CA601224255 rs1555016601 |
408 | T>* | No |
ClinGen gnomAD |
|
|
CA601224256 rs1555016602 |
408 | T>IHNMII* | No |
ClinGen gnomAD |
|
|
rs782044398 CA6251734 |
410 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs572644245 CA6251733 |
413 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6251732 rs572644245 |
413 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6251731 rs782604201 |
414 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1325015895 CA382226301 |
415 | D>E | No |
ClinGen TOPMed |
|
|
CA6251728 rs782188703 |
417 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6251729 rs782188703 |
417 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1040017514 CA382226291 |
417 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1040017514 CA227370317 |
417 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382226279 rs1379514333 |
419 | L>P | No |
ClinGen TOPMed |
|
|
CA382226272 rs1591153243 |
420 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 422 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34546980 CA6251725 |
427 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382226214 rs1354598556 |
429 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6251723 rs782474625 |
431 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6251722 rs781841372 |
432 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs782694230 CA6251721 |
433 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6251720 rs375834936 |
433 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782124997 CA6251717 |
434 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782820836 CA6251718 |
434 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 438 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382225851 rs1555016409 |
439 | G>D | No |
ClinGen gnomAD |
|
|
CA6251683 rs781952022 |
442 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs782387090 CA6251682 |
443 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA227369491 rs956102040 |
444 | F>I | No |
ClinGen gnomAD |
|
|
CA382225815 rs956102040 |
444 | F>L | No |
ClinGen gnomAD |
|
|
rs1455863069 CA382225803 |
445 | N>S | No |
ClinGen TOPMed |
|
|
CA6251679 rs139939501 |
446 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1451721058 CA382225788 |
447 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs368928667 CA227369474 |
447 | P>S | No |
ClinGen ESP gnomAD |
|
|
CA227369471 rs978700921 |
448 | I>M | No |
ClinGen gnomAD |
|
|
rs868972105 CA382225773 |
449 | Q>* | No |
ClinGen Ensembl |
|
|
CA6251678 rs782538264 |
449 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555016403 CA382225758 |
451 | E>K | No |
ClinGen gnomAD |
|
|
CA382225746 rs1555016402 |
452 | Y>C | No |
ClinGen gnomAD |
|
|
rs782182853 CA6251677 |
453 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA382225735 rs1555016400 |
454 | I>F | No |
ClinGen gnomAD |
|
|
rs782626500 CA6251676 |
454 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1555016399 CA382225729 |
455 | W>R | No |
ClinGen gnomAD |
|
|
rs782476333 CA6251675 |
456 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA382225703 COSM1350426 rs1368431302 |
458 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6251671 rs144776439 |
459 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM257416 CA382225687 rs558960918 |
461 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs782707715 CA6251669 |
461 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs782707715 CA382225685 |
461 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA6251670 rs558960918 |
461 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6251667 rs781966264 COSM75432 |
462 | V>I | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA382225671 rs1350786942 |
463 | M>I | No |
ClinGen TOPMed |
|
|
CA382225675 rs1262024731 |
463 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6251666 rs782725905 |
464 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781983836 CA6251664 |
467 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781983836 CA382225648 |
467 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194729528 CA382225645 |
468 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382225609 rs1555016390 |
472 | C>Y | No |
ClinGen gnomAD |
3 associated diseases with P45452
[MIM: 602111]: Spondyloepimetaphyseal dysplasia, Missouri type (SEMDM)
A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. {ECO:0000269|PubMed:16167086}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 602111]: Metaphyseal anadysplasia 1 (MANDP1)
A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. {ECO:0000269|PubMed:19615667}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 250400]: Metaphyseal dysplasia, Spahr type (MDST)
An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets. {ECO:0000269|PubMed:24648384, ECO:0000269|PubMed:24781753}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Epimetaphyseal changes improve with age. {ECO:0000269|PubMed:16167086}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia. {ECO:0000269|PubMed:19615667}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive, rare disease characterized by moderate short stature, mild genua vara, and radiographic signs of metaphyseal dysplasia, but no biochemical signs of rickets. {ECO:0000269|PubMed:24648384, ECO:0000269|PubMed:24781753}. Note=The disease is caused by variants affecting the gene represented in this entry.
11 regional properties for P45452
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Hemopexin-like domain | 281 - 471 | IPR000585 |
| domain | Peptidase M10, metallopeptidase | 112 - 267 | IPR001818 |
| domain | Peptidoglycan binding-like | 33 - 91 | IPR002477 |
| domain | Peptidase, metallopeptidase | 109 - 268 | IPR006026 |
| conserved_site | Hemopexin, conserved site | 323 - 338 | IPR018486 |
| repeat | Hemopexin-like repeats | 281 - 332 | IPR018487-1 |
| repeat | Hemopexin-like repeats | 331 - 377 | IPR018487-2 |
| repeat | Hemopexin-like repeats | 379 - 429 | IPR018487-3 |
| repeat | Hemopexin-like repeats | 428 - 471 | IPR018487-4 |
| binding_site | Peptidase M10A, cysteine switch, zinc binding site | 94 - 101 | IPR021158 |
| domain | Peptidase M10A, catalytic domain | 112 - 267 | IPR033739 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular matrix | A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| 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%). |
| endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| serine-type endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). |
| zinc ion binding | Binding to a zinc ion (Zn). |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
| bone morphogenesis | The process in which bones are generated and organized. |
| collagen catabolic process | The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells. |
| endochondral ossification | Replacement ossification wherein bone tissue replaces cartilage. |
| extracellular matrix disassembly | A process that results in the breakdown of the extracellular matrix. |
| 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. |
| growth plate cartilage development | The process whose specific outcome is the progression of the cartilage that will provide a scaffold for mineralization of endochondral bones as they elongate or grow. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| response to amyloid-beta | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a amyloid-beta stimulus. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SZV7 | HPX | Hemopexin | Bos taurus (Bovine) | PR |
| Q9GLE5 | MMP2 | 72 kDa type IV collagenase | Bos taurus (Bovine) | PR |
| O77656 | MMP13 | Collagenase 3 | 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 |
| P04004 | VTN | Vitronectin | Homo sapiens (Human) | PR |
| Q9NPA2 | MMP25 | Matrix metalloproteinase-25 | Homo sapiens (Human) | PR |
| Q9H239 | MMP28 | Matrix metalloproteinase-28 | Homo sapiens (Human) | PR |
| Q99542 | MMP19 | Matrix metalloproteinase-19 | Homo sapiens (Human) | PR |
| P34960 | Mmp12 | Macrophage metalloelastase | Mus musculus (Mouse) | PR |
| P33434 | Mmp2 | 72 kDa type IV collagenase | Mus musculus (Mouse) | PR |
| P28862 | Mmp3 | Stromelysin-1 | Mus musculus (Mouse) | PR |
| P33435 | Mmp13 | Collagenase 3 | Mus musculus (Mouse) | PR |
| Q63341 | Mmp12 | Macrophage metalloelastase | Rattus norvegicus (Rat) | PR |
| P33436 | Mmp2 | 72 kDa type IV collagenase | Rattus norvegicus (Rat) | PR |
| P23097 | Mmp13 | Collagenase 3 | Rattus norvegicus (Rat) | PR |
| Q6PHG2 | hpx | Hemopexin | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHPGVLAAFL | FLSWTHCRAL | PLPSGGDEDD | LSEEDLQFAE | RYLRSYYHPT | NLAGILKENA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ASSMTERLRE | MQSFFGLEVT | GKLDDNTLDV | MKKPRCGVPD | VGEYNVFPRT | LKWSKMNLTY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RIVNYTPDMT | HSEVEKAFKK | AFKVWSDVTP | LNFTRLHDGI | ADIMISFGIK | EHGDFYPFDG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PSGLLAHAFP | PGPNYGGDAH | FDDDETWTSS | SKGYNLFLVA | AHEFGHSLGL | DHSKDPGALM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FPIYTYTGKS | HFMLPDDDVQ | GIQSLYGPGD | EDPNPKHPKT | PDKCDPSLSL | DAITSLRGET |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MIFKDRFFWR | LHPQQVDAEL | FLTKSFWPEL | PNRIDAAYEH | PSHDLIFIFR | GRKFWALNGY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DILEGYPKKI | SELGLPKEVK | KISAAVHFED | TGKTLLFSGN | QVWRYDDTNH | IMDKDYPRLI |
| 430 | 440 | 450 | 460 | 470 | |
| EEDFPGIGDK | VDAVYEKNGY | IYFFNGPIQF | EYSIWSNRIV | RVMPANSILW | C |