Q5VZV1
PR
Gene name |
METTL21C (C13orf39) |
Protein name |
Protein-lysine methyltransferase METTL21C |
Names |
Methyltransferase-like protein 21C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:196541 |
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
2 structures for Q5VZV1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4MTL | X-ray | 165 A | A/B | 22-264 | PDB |
| AF-Q5VZV1-F1 | Predicted | AlphaFoldDB |
261 variants for Q5VZV1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA388486152 rs1486499452 |
2 | D>N | No |
ClinGen gnomAD |
|
|
rs760303347 CA7038607 |
3 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA388486127 rs1160202293 |
3 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA388486132 rs1160202293 |
3 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA388486113 rs1187854767 |
4 | C>Y | No |
ClinGen gnomAD |
|
|
rs146652569 CA7038604 |
5 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7038602 rs768424337 |
7 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7038601 rs749239343 |
7 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7038598 rs745993299 |
8 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7038599 rs374848987 |
8 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 8 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388485990 rs1355561422 |
9 | Q>L | No |
ClinGen gnomAD |
|
|
CA7038596 rs757526484 |
10 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751804273 CA7038595 |
10 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA7038594 rs547467269 |
11 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs887114236 CA255174993 |
11 | P>S | No |
ClinGen TOPMed |
|
|
rs1367057351 CA388485954 |
12 | G>E | No |
ClinGen gnomAD |
|
|
rs1455739169 CA388485962 |
12 | G>R | No |
ClinGen gnomAD |
|
|
rs371376040 CA255174989 |
13 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371376040 CA7038593 |
13 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7038592 rs753242037 |
13 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388485944 rs753242037 |
13 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA7038590 rs370473423 |
14 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7038591 rs201471378 |
14 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1486751770 CA388485920 |
15 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388485925 VAR_062229 CA7038587 rs2390760 |
15 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA388485917 rs1486751770 COSM1180114 |
15 | G>V | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA388485922 rs2390760 |
15 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7038586 rs773936127 |
16 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768495640 CA7038585 |
16 | E>G | No |
ClinGen ExAC |
|
|
CA255174903 TCGA novel rs773936127 |
16 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs762694113 CA7038584 |
17 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA388485885 rs1216321808 |
18 | L>R | No |
ClinGen gnomAD |
|
|
CA388485880 rs1193576517 |
19 | S>N | No |
ClinGen TOPMed |
|
|
rs781253928 CA7038580 |
20 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs543638998 CA7038581 |
20 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs543638998 CA388485876 |
20 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781253928 CA7038579 |
20 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7038577 rs148624039 |
21 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148624039 CA388485870 |
21 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148624039 CA7038578 |
21 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7038575 rs758770059 |
22 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA388485859 rs1397393692 |
23 | G>V | No |
ClinGen gnomAD |
|
|
rs1475147956 CA388485855 |
24 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA388485850 rs1373692321 |
24 | W>C | No |
ClinGen gnomAD |
|
|
rs948481250 CA255174836 |
25 | L>S | No |
ClinGen TOPMed |
|
|
rs1595246660 CA388485848 |
25 | L>V | No |
ClinGen Ensembl |
|
|
CA388485835 rs1195624827 |
26 | E>K | No |
ClinGen gnomAD |
|
|
rs1250918031 CA388485804 |
27 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779523707 CA7038573 |
30 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7038571 rs749898840 |
30 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255174795 rs941269719 |
31 | G>E | No |
ClinGen TOPMed |
|
|
CA7038570 rs767043904 COSM289342 |
33 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA388485716 rs1428958764 |
33 | P>S | No |
ClinGen TOPMed |
|
|
CA7038568 rs751196028 |
35 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs762757043 CA7038566 |
38 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1397100328 CA388485678 |
38 | T>S | No |
ClinGen gnomAD |
|
|
CA255174787 rs915631171 |
39 | G>A | No |
ClinGen TOPMed |
|
|
CA388485676 COSM1365255 rs1409843748 |
39 | G>R | Variant assessed as Somatic; 4.652e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA255174773 rs867270638 |
40 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA7038562 rs776607545 |
43 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1273421716 CA388483584 |
45 | S>A | No |
ClinGen TOPMed |
|
|
CA7038548 VAR_039013 rs16960383 |
46 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA388483521 rs1469425506 |
47 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535342881 CA7038547 |
51 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759390758 CA7038545 |
53 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA388483129 rs1268845264 |
60 | P>A | No |
ClinGen TOPMed |
|
|
rs1268845264 CA388483128 |
60 | P>S | No |
ClinGen TOPMed |
|
|
CA255171985 rs960035838 |
62 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs140891650 CA7038543 |
63 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760769841 CA388483045 |
64 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7038542 rs760769841 |
64 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773170961 CA7038541 |
65 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7038538 rs774785832 |
66 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748371783 CA7038539 |
66 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7038536 rs749722813 |
69 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 69 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7038535 rs780558177 |
69 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749722813 CA388482945 |
69 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749722813 CA7038537 |
69 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs980686749 CA255171936 |
70 | H>N | No |
ClinGen Ensembl |
|
|
rs1426209913 CA388482918 |
70 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs368026829 CA7038534 |
71 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368026829 CA7038533 |
71 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149948690 CA7038531 |
72 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149948690 CA388482873 |
72 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777158294 CA7038532 |
72 | R>W | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 74 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7038530 rs752341378 |
74 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA388482822 rs1422431556 |
74 | A>V | No |
ClinGen Ensembl |
|
|
rs1293437196 CA388482812 |
75 | G>R | No |
ClinGen TOPMed |
|
|
rs754744394 CA7038528 |
76 | K>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 77 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760542947 CA7038525 |
79 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388482669 rs1288941103 |
80 | I>T | No |
ClinGen TOPMed |
|
|
rs773259730 CA7038524 |
81 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7038523 rs767705244 |
82 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs372296617 CA7038522 |
83 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7038521 rs774695796 |
84 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA255171858 rs774695796 |
84 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA255171874 rs368942846 |
84 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs769019633 CA7038520 |
85 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA388482499 rs1243066927 |
86 | S>T | No |
ClinGen TOPMed |
|
|
rs1440168445 CA388482475 |
87 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs138387675 CA7038517 |
88 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7038514 COSM1317946 rs140948695 |
89 | A>E | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7038515 rs140948695 |
89 | A>V | Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA388482321 rs1359917852 |
91 | V>A | No |
ClinGen gnomAD |
|
|
rs757870532 CA7038511 |
92 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7038510 rs747704057 |
94 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1032544034 CA255171778 |
94 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 98 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181819383 CA388479645 |
98 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388479589 rs1169054586 |
99 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391697219 CA388479529 |
101 | Y>D | No |
ClinGen gnomAD |
|
|
rs1391697219 CA388479531 |
101 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755844615 CA7038483 |
105 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs572937369 CA7038482 |
106 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388479344 rs780425872 |
107 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7038480 rs780425872 |
107 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388479309 rs1341558076 |
108 | E>K | No |
ClinGen TOPMed |
|
|
CA7038478 COSM945083 rs148307139 |
109 | L>F | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA388479281 rs660207 |
109 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 110 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA255168400 rs200140305 |
114 | A>V | No |
ClinGen Ensembl |
|
|
CA388479140 rs1278511830 |
115 | K>E | No |
ClinGen gnomAD |
|
|
CA7038477 rs763159476 |
115 | K>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 116 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752830850 CA7038476 |
119 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765543295 CA7038475 |
120 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388478952 rs759769473 |
121 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7038474 rs759769473 |
121 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA388478949 rs759769473 |
121 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761786898 CA7038472 |
122 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761158316 CA7038471 |
123 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 124 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752378100 CA255168360 |
126 | V>A | No |
ClinGen Ensembl |
|
|
rs773775759 CA7038470 |
127 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs146196219 CA7038469 |
128 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141515467 CA7038468 |
128 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388478733 rs1178608385 |
130 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1191152761 CA388478721 |
130 | A>V | No |
ClinGen TOPMed |
|
|
CA7038467 rs779526864 |
131 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388478685 rs1475321105 |
132 | I>T | No |
ClinGen TOPMed |
|
|
rs769521394 CA7038466 |
133 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs141134679 CA7038443 |
136 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291343198 CA388478292 |
137 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 141 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388478114 rs1595241504 |
143 | P>A | No |
ClinGen Ensembl |
|
|
rs367866682 CA7038441 |
145 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367866682 CA255167892 |
145 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1378146115 CA388478024 |
148 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7038439 rs748119880 |
149 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7038438 rs779037915 |
149 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA255167869 rs868263384 |
150 | Q>* | No |
ClinGen Ensembl |
|
|
rs1289752350 CA388477976 |
151 | Y>H | No |
ClinGen gnomAD |
|
|
CA7038437 rs138041652 |
152 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1454591503 CA388477940 |
152 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs138041652 CA7038436 |
152 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs552658471 CA7038435 |
153 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA388477847 rs750822863 |
156 | N>K | No |
ClinGen ExAC TOPMed |
|
|
CA7038434 rs756423782 |
156 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1370216177 CA388477784 |
158 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 159 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762391332 CA7038431 |
160 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs762391332 CA7038430 |
160 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774775022 CA388477664 |
161 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774775022 CA7038429 |
161 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 162 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1050999662 CA255167822 |
162 | A>V | No |
ClinGen TOPMed |
|
|
rs1595241439 CA388477533 |
166 | E>Q | No |
ClinGen Ensembl |
|
|
rs145461880 CA7038427 |
167 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM945082 rs979152059 CA388477443 |
169 | E>* | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs979152059 CA255167808 |
169 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA255167797 rs1017895711 |
172 | W>C | No |
ClinGen TOPMed |
|
|
CA7038424 rs568717028 |
172 | W>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1266657393 CA388477339 |
173 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1266657393 CA388477342 |
173 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 173 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388477345 rs1266657393 |
173 | G>V | No |
ClinGen TOPMed gnomAD |
|
| rs760847518 | 174 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760847518 | 174 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746760907 CA7038421 COSM3813344 |
175 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7038420 rs773063340 |
176 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369198550 CA388477233 |
177 | D>G | No |
ClinGen gnomAD |
|
|
rs1437808368 CA388477247 |
177 | D>N | No |
ClinGen TOPMed gnomAD |
|
| rs1464214036 | 179 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7038417 rs778757547 |
182 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA388477073 rs1445338187 |
183 | S>A | No |
ClinGen TOPMed |
|
|
rs768701486 CA7038416 |
185 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255167747 rs1037757753 |
187 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 188 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7038413 COSM3384708 rs150348225 |
190 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1302386242 CA388476836 |
192 | A>V | No |
ClinGen TOPMed |
|
|
CA388476823 rs1250851582 |
193 | S>* | No |
ClinGen gnomAD |
|
|
rs1046952560 CA255167734 |
194 | D>N | No |
ClinGen TOPMed |
|
|
CA7038412 rs756337846 |
195 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7038410 rs750731316 |
197 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7038408 rs757625816 |
200 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA7038409 rs781604072 |
200 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs764557486 CA7038406 |
203 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA388476650 rs1431194459 |
204 | K>E | No |
ClinGen TOPMed |
|
|
CA255167710 rs1030458493 |
205 | L>P | No |
ClinGen TOPMed |
|
|
CA7038404 rs753430532 |
206 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs766061315 CA7038403 |
207 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA388476596 rs1423823405 |
208 | T>A | No |
ClinGen TOPMed |
|
|
rs1368494045 CA388476592 |
208 | T>I | No |
ClinGen gnomAD |
|
|
CA388476540 rs1167902070 |
211 | Y>* | No |
ClinGen TOPMed |
|
|
rs757540643 CA255167706 |
211 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7038401 rs772807635 |
212 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353319541 CA388476464 |
216 | G>E | No |
ClinGen TOPMed |
|
|
rs74448673 CA255167702 |
216 | G>R | No |
ClinGen Ensembl |
|
|
rs771871190 CA7038400 |
217 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172725429 CA388476440 |
218 | V>A | No |
ClinGen gnomAD |
|
|
CA7038398 rs774298899 |
218 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1478227724 CA388476427 |
219 | L>P | No |
ClinGen gnomAD |
|
|
CA388476430 rs1478227724 |
219 | L>Q | No |
ClinGen gnomAD |
|
|
rs1403426508 CA388476398 COSM1628977 |
221 | W>* | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1403426508 CA388476400 |
221 | W>L | No |
ClinGen TOPMed |
|
|
rs927921566 CA255167697 |
224 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA388476350 rs927921566 |
224 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7038396 rs200707901 |
226 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388476285 rs1293501117 |
227 | F>L | No |
ClinGen TOPMed |
|
|
rs145510579 CA7038394 |
228 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1229652131 CA388476262 |
229 | T>P | No |
ClinGen Ensembl |
|
|
rs781306835 COSM199958 CA255167673 |
230 | D>N | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7038391 rs781306835 |
230 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757616388 CA7038390 |
235 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 235 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751890664 CA7038389 |
237 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1358056959 CA388476095 |
238 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA388476078 rs1238895371 |
239 | Q>H | No |
ClinGen gnomAD |
|
|
rs778382454 CA7038388 |
243 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477277388 CA388475975 |
246 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 248 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 250 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7038385 rs753340714 |
252 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA388475854 rs1426982281 |
254 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7038384 rs376742602 |
254 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388475841 rs760302955 |
255 | K>I | No |
ClinGen ExAC |
|
|
CA255167649 rs949333595 |
255 | K>N | No |
ClinGen Ensembl |
|
|
CA7038383 rs760302955 |
255 | K>R | No |
ClinGen ExAC |
|
|
CA255167645 rs201672118 |
257 | F>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA388475823 rs1156765625 |
257 | F>L | No |
ClinGen gnomAD |
|
|
RCV000960545 rs576493983 |
258 | K>* | No |
ClinVar dbSNP |
|
|
rs61740624 CA388475784 |
259 | G>A | No |
ClinGen TOPMed |
|
|
rs61740624 CA255167635 |
259 | G>V | No |
ClinGen TOPMed |
|
|
rs761631438 CA7038378 |
260 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs767099583 CA7038379 |
260 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1282544182 CA388475754 |
261 | L>R | No |
ClinGen gnomAD |
|
|
CA255167624 rs1052283115 |
261 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 263 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1595241137 CA388475721 |
263 | W>R | No |
ClinGen Ensembl |
|
|
rs373790927 CA7038376 |
264 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7038377 rs368846422 |
264 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q5VZV1
No regional properties for Q5VZV1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q5VZV1 | |||
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| heat shock protein binding | Binding to a heat shock protein, a protein synthesized or activated in response to heat shock. |
| protein-lysine N-methyltransferase activity | Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to the epsilon-amino group of a lysine residue in a protein substrate. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to dexamethasone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dexamethasone stimulus. |
| hormone-mediated apoptotic signaling pathway | The series of molecular signals mediated by the detection of a hormone, and which triggers the apoptotic signaling pathway in a cell. The pathway starts with reception of a hormone signal, and ends when the execution phase of apoptosis is triggered. |
| peptidyl-lysine methylation | The methylation of peptidyl-lysine to form either the mono-, di- or trimethylated derivative. |
| peptidyl-lysine trimethylation | The methylation of peptidyl-lysine to form peptidyl-N6,N6,N6-trimethyl-L-lysine. |
| protein methylation | The addition of a methyl group to a protein amino acid. A methyl group is derived from methane by the removal of a hydrogen atom. |
| regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | Any process that modulates the rate, frequency or extent of release of sequestered calcium ion into cytosol by the sarcoplasmic reticulum, the process in which the release of sequestered calcium ion by sarcoplasmic reticulum into cytosol occurs via calcium release channels. |
| skeletal muscle tissue development | The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12367 | RKM5 | Ribosomal lysine N-methyltransferase 5 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q58DC7 | METTL21E | Protein-lysine methyltransferase METTL21E | Bos taurus (Bovine) | PR |
| A6QP81 | METTL21C | Protein-lysine methyltransferase METTL21C | Bos taurus (Bovine) | PR |
| Q96G04 | EEF2KMT | Protein-lysine N-methyltransferase EEF2KMT | Homo sapiens (Human) | PR |
| O95568 | METTL18 | Histidine protein methyltransferase 1 homolog | Homo sapiens (Human) | PR |
| A6NDL7 | METTL21EP | Putative methyltransferase-like protein 21E pseudogene | Homo sapiens (Human) | PR |
| Q8BLU2 | Mettl21c | Protein-lysine methyltransferase METTL21C | Mus musculus (Mouse) | PR |
| Q8CDZ2 | Mettl21e | Protein-lysine methyltransferase METTL21E | Mus musculus (Mouse) | PR |
| A7IQW5 | C42C1.13 | Protein-lysine methyltransferase C42C1.13 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDVCLSSAQQ | PGRRGEGLSS | PGGWLEAEKK | GAPQKDSTGG | VLEESNKIEP | SLHSLQKFVP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TDYASYTQEH | YRFAGKEIVI | QESIESYGAV | VWPGAMALCQ | YLEEHAEELN | FQDAKILEIG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AGPGLVSIVA | SILGAQVTAT | DLPDVLGNLQ | YNLLKNTLQC | TAHLPEVKEL | VWGEDLDKNF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PKSAFYYDYV | LASDVVYHHY | FLDKLLTTMV | YLSQPGTVLL | WANKFRFSTD | YEFLDKFKQV |
| 250 | 260 | ||||
| FDTTLLAEYP | ESSVKLFKGI | LKWD |