O95568
PR
Gene name |
METTL18 |
Protein name |
Histidine protein methyltransferase 1 homolog |
Names |
Arsenic-transactivated protein 2, AsTP2, Methyltransferase-like protein 18 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:92342 |
EC number |
2.1.1.85: Methyltransferases |
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 O95568
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4RFQ | X-ray | 240 A | A | 63-372 | PDB |
| AF-O95568-F1 | Predicted | AlphaFoldDB |
312 variants for O95568
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764066076 CA1236665 |
2 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs755909503 CA32474805 |
3 | F>L | No |
ClinGen Ensembl |
|
|
rs143505821 CA343137331 |
4 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143505821 CA1236664 |
4 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1236663 rs752501395 |
7 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1041219126 CA32474795 |
8 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 8 | T>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764822937 CA1236661 |
9 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs944252600 CA32474793 |
9 | I>V | No |
ClinGen gnomAD |
|
|
VAR_027087 CA343137062 rs10489177 CA1236660 |
10 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA343136995 rs1214723170 |
11 | D>E | No |
ClinGen TOPMed |
|
|
CA1236659 rs371427681 |
11 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765912527 CA1236658 |
12 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA32474773 rs1038032006 |
15 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs774839631 CA1236656 |
15 | N>S | No |
ClinGen ExAC |
|
|
rs1571174146 CA343136730 |
17 | L>S | No |
ClinGen Ensembl |
|
|
CA343136682 rs1571174129 |
18 | T>I | No |
ClinGen Ensembl |
|
|
CA1236653 rs749673109 |
20 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1052431139 CA32474747 |
22 | D>Y | No |
ClinGen Ensembl |
|
|
rs775899587 CA1236652 |
23 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343136455 rs1194292580 |
24 | A>T | No |
ClinGen TOPMed |
|
|
rs769948548 CA1236651 |
27 | L>Q | No |
ClinGen ExAC |
|
|
CA343136312 rs1251730459 |
28 | D>N | No |
ClinGen gnomAD |
|
|
rs1227405957 CA343136248 |
30 | S>L | No |
ClinGen gnomAD |
|
|
CA1236649 rs149017105 |
31 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343136165 rs1441485975 |
32 | E>A | No |
ClinGen gnomAD |
|
|
CA1236648 rs781185874 |
33 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA343136059 rs1479484838 |
34 | S>L | No |
ClinGen TOPMed |
|
|
CA1236647 rs368584829 |
37 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347314317 CA343135811 |
41 | G>E | No |
ClinGen TOPMed |
|
|
CA343135819 rs1411373163 |
41 | G>R | No |
ClinGen gnomAD |
|
|
CA343135784 rs1420880791 |
42 | E>G | No |
ClinGen TOPMed |
|
|
rs747018815 CA1236646 |
43 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343135726 rs1396529122 |
44 | R>K | No |
ClinGen Ensembl |
|
|
CA1236645 rs777890715 |
46 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA343135604 rs1174844660 |
48 | C>Y | No |
ClinGen gnomAD |
|
|
CA1236644 rs758363547 |
49 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA343135567 rs758363547 |
49 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1236643 rs752591348 |
51 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969504253 CA32474686 |
51 | E>K | No |
ClinGen Ensembl |
|
|
CA1236640 rs530617590 |
55 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1236639 rs139578986 |
56 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343134831 rs1282167805 |
57 | Q>* | No |
ClinGen gnomAD |
|
|
CA1236638 rs760206225 |
58 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA32474615 rs201468146 |
59 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1236637 rs201468146 |
59 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258587948 CA343134737 |
59 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1571173718 CA343134648 |
61 | W>* | No |
ClinGen Ensembl |
|
|
rs763417787 CA1236635 |
61 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1236634 rs775783631 |
63 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1558033513 CA343134589 |
63 | H>R | No |
ClinGen Ensembl |
|
|
rs770180934 CA1236633 |
65 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770180934 CA343134511 |
65 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1236632 rs746162129 |
66 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA32474538 rs928803137 |
68 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1487226083 CA343134335 |
70 | A>G | No |
ClinGen gnomAD |
|
|
rs747110520 CA1236629 |
72 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758453720 CA1236627 |
73 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1236626 rs748116646 |
75 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs140273274 CA1236625 |
75 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1422225759 CA343134080 |
77 | S>G | No |
ClinGen TOPMed |
|
|
CA343134015 rs1180349107 |
78 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1259432410 CA343133974 |
80 | S>N | No |
ClinGen gnomAD |
|
|
rs1211317035 CA343133894 |
82 | A>V | No |
ClinGen gnomAD |
|
|
CA343133832 rs1441577298 |
83 | S>I | No |
ClinGen gnomAD |
|
|
CA1236624 rs754803167 |
85 | S>P | No |
ClinGen ExAC |
|
|
CA343133751 rs1276424134 |
86 | R>G | No |
ClinGen gnomAD |
|
|
CA343133655 rs1355707078 |
87 | N>K | No |
ClinGen gnomAD |
|
|
CA1236623 rs753533680 |
88 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1236622 rs779776181 |
89 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1236621 rs755738515 |
91 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs749973431 CA1236620 |
93 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313041722 CA343133422 |
94 | Q>* | No |
ClinGen gnomAD |
|
|
rs990174527 CA32474452 |
95 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1314311105 CA343133378 |
96 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs767008118 CA1236619 |
99 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 99 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763507833 CA1236618 |
100 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1236617 rs753260651 |
100 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1388049145 CA343133315 |
101 | K>E | No |
ClinGen gnomAD |
|
|
CA1236616 rs765596976 |
101 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1418864372 CA343133277 |
102 | E>D | No |
ClinGen gnomAD |
|
|
rs1476343360 CA343133302 |
102 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 102 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343133216 rs1211562867 |
105 | M>T | No |
ClinGen TOPMed |
|
|
CA1236615 rs759977573 |
105 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA32474399 rs776812757 |
106 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776812757 CA1236614 |
106 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760951087 CA1236612 |
108 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1236611 rs773495994 |
109 | L>F | No |
ClinGen ExAC |
|
|
rs1340528648 CA343133085 |
109 | L>S | No |
ClinGen gnomAD |
|
|
CA343133098 rs1437294637 |
109 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 111 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138671877 CA1236610 |
112 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1314511349 CA343132929 |
114 | E>D | No |
ClinGen gnomAD |
|
|
CA1236609 rs530572817 |
115 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1440707599 CA343132913 |
115 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 117 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343132778 rs1206291894 |
118 | I>T | No |
ClinGen gnomAD |
|
|
rs1307056725 CA343132687 |
120 | T>I | No |
ClinGen Ensembl |
|
|
CA32474387 rs778935950 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1236607 rs202219512 |
122 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749154222 CA1236606 |
123 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32474381 rs749154222 |
123 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32474380 rs1052713862 |
125 | Q>H | No |
ClinGen Ensembl |
|
|
rs936927190 CA343132485 |
126 | H>P | No |
ClinGen TOPMed |
|
|
rs936927190 CA32474362 |
126 | H>R | No |
ClinGen TOPMed |
|
|
CA343132463 rs1299132753 |
127 | V>I | No |
ClinGen gnomAD |
|
|
CA343132400 CA1236604 rs755830283 |
128 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1272255893 CA343132434 |
128 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1272255893 CA343132410 |
128 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750062325 CA1236603 |
129 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1236601 rs780765160 |
133 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1236600 rs756764642 |
134 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750993991 CA1236599 |
135 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866991613 CA32474299 |
137 | L>M | No |
ClinGen Ensembl |
|
|
CA1236598 rs765797440 |
138 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs759939979 CA1236597 |
139 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1236596 rs754272303 |
139 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1449782796 CA343131974 |
140 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA343131967 rs1571172906 |
140 | N>I | No |
ClinGen Ensembl |
|
|
rs372416500 CA32474252 |
141 | F>S | No |
ClinGen ESP |
|
|
rs137931977 CA1236595 |
142 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761039508 CA1236594 |
143 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1236593 rs773586025 |
146 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs948129425 CA32474250 |
148 | S>* | No |
ClinGen Ensembl |
|
|
rs1025935321 CA32474240 |
149 | K>E | No |
ClinGen TOPMed |
|
|
rs761970705 CA1236591 |
151 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1473198471 CA343131452 |
152 | S>F | No |
ClinGen gnomAD |
|
|
rs1370268577 CA343131444 |
153 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA343131368 rs367854228 |
155 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367854228 CA1236589 |
155 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343131339 rs1364836872 |
156 | D>G | No |
ClinGen gnomAD |
|
|
CA32474206 rs745612448 |
157 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1462916158 CA343131260 |
158 | I>T | No |
ClinGen TOPMed |
|
|
CA1236587 rs779881475 |
159 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs938547443 CA32474196 |
164 | G>E | No |
ClinGen Ensembl |
|
|
rs745595552 CA1236585 |
170 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA343130657 rs1171313529 |
175 | L>R | No |
ClinGen gnomAD |
|
|
rs1165709517 CA343130616 |
177 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 180 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343130415 rs1175238386 |
183 | K>* | No |
ClinGen TOPMed |
|
|
rs1571172543 CA343130411 |
183 | K>T | No |
ClinGen Ensembl |
|
|
CA1236580 rs542036111 |
184 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1236578 rs755578019 |
185 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs777117838 CA1236579 |
185 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1487185533 CA343130284 |
188 | G>E | No |
ClinGen gnomAD |
|
|
CA1236577 rs373970212 |
191 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766938906 CA1236576 |
191 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs373970212 CA343130195 |
191 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1236575 rs142755380 |
192 | L>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343130102 rs1272907186 |
194 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343130049 rs1237199941 |
195 | G>D | No |
ClinGen gnomAD |
|
|
rs1313296498 CA343130020 |
197 | G>R | No |
ClinGen gnomAD |
|
|
CA1236572 rs767897935 |
203 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA32474111 rs761907642 |
205 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1236571 rs761907642 |
205 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32474102 rs952633370 |
207 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA32474106 rs952633370 |
207 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA343129761 rs1305947211 |
210 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA1236570 rs774555734 |
210 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs774555734 CA32474094 |
210 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA343129612 rs1261442397 |
215 | F>C | No |
ClinGen TOPMed |
|
|
rs775410309 CA1236567 |
217 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1175192129 CA343129562 |
217 | D>N | No |
ClinGen gnomAD |
|
|
CA1236566 rs529962511 |
218 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343129522 rs1409474078 |
218 | Y>H | No |
ClinGen gnomAD |
|
|
CA343129515 rs529962511 |
218 | Y>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343129494 rs1482507690 |
219 | N>D | No |
ClinGen gnomAD |
|
|
CA343129441 rs1287704831 |
220 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1283991058 CA343129449 |
220 | S>R | No |
ClinGen TOPMed |
|
|
CA1236563 rs370886879 |
221 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1236564 rs776389045 |
221 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255949214 CA343129309 |
223 | I>T | No |
ClinGen gnomAD |
|
|
CA343129237 rs1289030059 |
224 | D>E | No |
ClinGen gnomAD |
|
|
CA1236561 rs777403132 |
224 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1477835650 CA343129151 |
227 | T>A | No |
ClinGen TOPMed |
|
|
CA1236559 rs747599147 |
227 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747599147 CA1236560 |
227 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343129090 rs1356441805 |
229 | P>L | No |
ClinGen gnomAD |
|
|
CA343129020 rs1467407210 |
231 | V>L | No |
ClinGen TOPMed |
|
|
CA1236558 rs780724782 |
235 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1236557 rs756663330 |
236 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376130888 CA1236556 |
238 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1236555 rs767765977 |
239 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159257984 CA343128785 |
239 | D>G | No |
ClinGen gnomAD |
|
|
CA343128816 rs1299934234 |
239 | D>N | No |
ClinGen TOPMed |
|
|
rs1409332982 CA343128697 |
241 | E>V | No |
ClinGen gnomAD |
|
|
rs1255875705 CA343128644 |
243 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1255875705 CA343128641 |
243 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1571171885 CA343128654 |
243 | D>Y | No |
ClinGen Ensembl |
|
|
rs1019382244 CA32474000 |
244 | V>A | No |
ClinGen Ensembl |
|
|
rs1558032449 CA343128542 |
246 | E>* | No |
ClinGen Ensembl |
|
|
CA343128509 rs1281617869 |
247 | P>S | No |
ClinGen TOPMed |
|
|
rs1332992720 CA343128481 |
248 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 248 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1236553 rs751742771 |
251 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260547310 CA343128386 |
252 | C>F | No |
ClinGen TOPMed |
|
|
rs764309819 CA1236552 |
252 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762974914 CA1236551 |
253 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs946180123 CA32473996 |
253 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343128287 rs1287324518 |
254 | K>E | No |
ClinGen TOPMed |
|
|
CA343128253 rs267598161 |
255 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 255 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32473995 rs267598161 |
255 | P>S | No |
ClinGen Ensembl |
|
|
rs775500169 CA1236550 |
256 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 257 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201149242 CA343128032 |
262 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1236549 rs201149242 |
262 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1236548 rs201226123 |
264 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA32473981 rs1008797172 |
264 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs541351589 CA1236547 |
265 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343127941 rs1367255507 |
265 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs373137677 CA1236546 |
267 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1236545 rs373137677 |
267 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs78211187 CA32473921 |
268 | G>A | No |
ClinGen Ensembl |
|
|
rs772748768 CA1236544 |
268 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs78211187 CA32473924 |
268 | G>D | No |
ClinGen Ensembl |
|
|
CA343127771 rs1166700322 |
270 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA343127784 CA343127783 rs1385738691 |
270 | W>R | No |
ClinGen gnomAD |
|
|
rs1468362495 CA343127765 |
271 | S>A | No |
ClinGen TOPMed |
|
|
rs1160413999 CA343127753 |
271 | S>C | No |
ClinGen TOPMed |
|
|
CA343127760 rs1160413999 |
271 | S>Y | No |
ClinGen TOPMed |
|
|
CA343127723 rs1458064756 |
272 | E>G | No |
ClinGen gnomAD |
|
|
CA343127650 rs1424112743 |
274 | C>S | No |
ClinGen TOPMed |
|
|
CA32473915 rs1031180486 |
276 | L>F | No |
ClinGen Ensembl |
|
|
COSM1197166 rs771087279 CA32473913 |
277 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1236543 rs140538608 |
279 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1430604097 CA343127510 |
279 | S>N | No |
ClinGen gnomAD |
|
|
rs577080421 CA1236542 |
280 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343127494 rs1392932031 |
280 | S>R | No |
ClinGen TOPMed |
|
|
rs778547818 CA1236541 |
282 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1236540 rs770483877 |
283 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs942897979 CA32473892 |
284 | F>L | No |
ClinGen TOPMed |
|
|
CA1236539 rs749428212 |
284 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781676713 CA1236538 |
285 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1236537 rs757576940 |
287 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1236536 rs751903768 |
288 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777888667 CA1236535 |
289 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs777825972 CA1236534 COSM1738596 |
290 | I>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752821755 CA1236533 |
291 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343127012 rs1434247476 |
294 | E>Q | No |
ClinGen gnomAD |
|
|
rs759533728 CA1236531 |
295 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1236530 rs753721303 |
297 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1236529 rs766279065 |
298 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343126926 rs766279065 |
298 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343126863 rs1465329772 |
300 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760405745 CA1236528 |
300 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs767888848 CA32473811 |
301 | Y>D | No |
ClinGen Ensembl |
|
|
rs143401859 CA1236526 |
302 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373818178 CA1236527 |
302 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343126804 rs1249336168 |
303 | S>G | No |
ClinGen TOPMed |
|
|
rs1391117368 CA343126746 |
306 | H>Y | No |
ClinGen gnomAD |
|
|
rs146549832 CA1236524 |
307 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_054050 CA1236520 CA1236523 rs34396097 |
309 | F>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1558032170 CA343126591 |
311 | R>* | No |
ClinGen Ensembl |
|
|
CA32473769 rs940797261 |
313 | L>V | No |
ClinGen Ensembl |
|
|
rs139579144 CA1236517 |
314 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA32473764 rs982585795 |
317 | G>R | No |
ClinGen gnomAD |
|
|
COSM899340 CA1236516 rs145089880 |
318 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1236515 rs35984232 VAR_054051 |
318 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1339954873 CA343126364 |
319 | V>L | No |
ClinGen gnomAD |
|
|
rs752909544 CA1236514 |
320 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779038753 CA1236513 |
323 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA32473714 rs376470126 |
325 | A>P | No |
ClinGen ESP TOPMed |
|
|
rs16862686 CA1236512 VAR_027088 |
325 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA343126166 rs1321202301 |
326 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1382463692 CA343126170 |
326 | H>Y | No |
ClinGen TOPMed |
|
|
CA343126095 rs1315384074 |
329 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1236511 rs753903137 |
329 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766253921 CA32473697 |
330 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766253921 CA1236510 |
330 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343126082 CA32473702 rs1801567 |
330 | V>L | No |
ClinGen TOPMed |
|
|
CA343126028 rs1307806744 |
332 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343126007 rs1250428323 |
332 | G>V | No |
ClinGen TOPMed |
|
|
CA1236509 rs760643851 |
334 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427887152 CA343125979 |
335 | H>N | No |
ClinGen gnomAD |
|
|
rs1173607524 CA343125931 |
337 | F>L | No |
ClinGen gnomAD |
|
|
rs201953653 CA32473688 |
339 | K>* | No |
ClinGen TOPMed |
|
|
CA1236507 rs750247098 |
343 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1236505 rs188871369 |
345 | D>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1184657201 CA343125721 |
346 | V>A | No |
ClinGen gnomAD |
|
|
rs1258367672 CA343125724 |
346 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA343125728 rs1258367672 |
346 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1220079908 CA343125687 |
348 | K>N | No |
ClinGen gnomAD |
|
|
CA32473644 rs150234843 |
352 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA32473646 rs150234843 |
352 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs755372578 CA32473641 |
356 | D>G | No |
ClinGen Ensembl |
|
|
rs531853220 CA343125531 |
356 | D>H | No |
ClinGen gnomAD |
|
|
rs531853220 CA32473643 |
356 | D>N | No |
ClinGen gnomAD |
|
|
rs1571171141 CA343125487 |
357 | E>G | No |
ClinGen Ensembl |
|
|
rs1001074639 CA343125494 |
357 | E>K | No |
ClinGen TOPMed |
|
|
CA32473635 rs1001074639 |
357 | E>Q | No |
ClinGen TOPMed |
|
|
CA1236497 VAR_027089 rs13375701 |
360 | K>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs775034210 CA1236496 |
361 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1236495 rs771390263 |
362 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs747536304 CA1236494 |
364 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772427750 CA1236492 |
365 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748450599 CA343125232 |
367 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1236491 rs748450599 |
367 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779126695 CA1236490 |
369 | K>N | No |
ClinGen ExAC |
|
|
rs751812491 CA1236489 |
371 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161461574 CA343125069 |
372 | G>D | No |
ClinGen gnomAD |
|
|
rs1337743738 CA343125039 |
373 | G>S | No |
ClinGen TOPMed |
No associated diseases with O95568
No regional properties for O95568
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O95568 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.85 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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-L-histidine N-tele-methyltransferase activity | Catalysis of the reaction: L-histidyl- + S-adenosyl-L-methionine = N(tele)-methyl-L-histidyl- |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| peptidyl-histidine methylation, to form tele-methylhistidine | The methylation of peptidyl-L-histidine to form peptidyl-L-1'-methyl-L-histidine (otherwise known as tau-methylhistidine, tele-methylhistidine). |
| peptidyl-lysine monomethylation | The methylation of peptidyl-lysine to form peptidyl-N6-methyl-L-lysine. |
| regulation of ribosome biogenesis | Any process that modulates the rate, frequency or extent of ribosome biogenesis. Ribosome biogenesis is the cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits. |
| regulation of rRNA processing | Any process that modulates the frequency, rate or extent of rRNA processing. |
| regulation of translation | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2KIJ2 | METTL18 | Histidine protein methyltransferase 1 homolog | Bos taurus (Bovine) | PR |
| Q96G04 | EEF2KMT | Protein-lysine N-methyltransferase EEF2KMT | Homo sapiens (Human) | PR |
| Q5VZV1 | METTL21C | Protein-lysine methyltransferase METTL21C | Homo sapiens (Human) | PR |
| A6NDL7 | METTL21EP | Putative methyltransferase-like protein 21E pseudogene | Homo sapiens (Human) | PR |
| Q4KM84 | Mettl18 | Histidine protein methyltransferase 1 homolog | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTFQFNFTIE | DHLENELTPI | RDGALTLDSS | KELSVSESQK | GEERDRKCSA | EQFDLPQDHL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WEHKSMENAA | PSQDTDSPLS | AASSSRNLEP | HGKQPSLRAA | KEHAMPKDLK | KMLENKVIET |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LPGFQHVKLS | VVKTILLKEN | FPGENIVSKS | FSSHSDLITG | VYEGGLKIWE | CTFDLLAYFT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KAKVKFAGKK | VLDLGCGSGL | LGITAFKGGS | KEIHFQDYNS | MVIDEVTLPN | VVANSTLEDE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ENDVNEPDVK | RCRKPKVTQL | YKCRFFSGEW | SEFCKLVLSS | EKLFVKYDLI | LTSETIYNPD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YYSNLHQTFL | RLLSKNGRVL | LASKAHYFGV | GGGVHLFQKF | VEERDVFKTR | ILKIIDEGLK |
| 370 | |||||
| RFIIEITFKF | PG |