Q5VVJ2
PR
Gene name |
MYSM1 (KIAA1915) |
Protein name |
Deubiquitinase MYSM1 |
Names |
2A-DUB, Myb-like, SWIRM and MPN domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:114803 |
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
3 structures for Q5VVJ2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2CU7 | NMR | - | A | 117-181 | PDB |
| 2DCE | NMR | - | A | 367-470 | PDB |
| AF-Q5VVJ2-F1 | Predicted | AlphaFoldDB |
600 variants for Q5VVJ2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA340527279 rs1569770360 RCV000995816 |
290 | S>* | Bone marrow failure syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000680224 rs1557518298 CA340524847 |
390 | E>* | Bone marrow failure syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081184 | 390 | E>del | BMFS4 [UniProt] | Yes | UniProt |
|
RCV001170076 CA340521330 rs1361904700 |
489 | Y>* | Bone marrow failure syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1644486654 RCV001332802 |
629 | Q>* | Bone marrow failure syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680225 rs1557507208 CA340519299 VAR_081185 |
656 | H>R | Bone marrow failure syndrome 4 BMFS4 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs766815863 CA878195 |
3 | A>V | No |
ClinGen ExAC |
|
|
CA340534664 rs1254501506 |
4 | E>G | No |
ClinGen gnomAD |
|
|
rs1341551181 CA340534672 |
4 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA22884764 rs914947271 |
5 | E>G | No |
ClinGen TOPMed |
|
|
rs773237401 CA878193 |
5 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773237401 CA22884767 COSM1503039 |
5 | E>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs12402204 CA340534641 |
6 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340534644 rs12402204 |
6 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12402204 CA878191 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1033445075 CA340534629 |
7 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1033445075 CA22884759 |
7 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1033445075 CA340534626 |
7 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA22884762 rs367989802 |
7 | D>Y | No |
ClinGen ESP TOPMed |
|
|
CA340534619 rs1178704124 |
8 | V>M | No |
ClinGen TOPMed |
|
|
CA878190 rs774408224 |
9 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA340534602 rs1330125321 |
9 | D>Y | No |
ClinGen gnomAD |
|
|
CA878189 rs529415002 |
10 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340534572 rs1468921815 |
11 | E>Q | No |
ClinGen gnomAD |
|
|
CA340534533 rs1211270908 |
13 | D>E | No |
ClinGen TOPMed |
|
|
CA878187 rs779996805 |
13 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs756071648 CA878186 |
14 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA340534511 rs751146839 |
15 | V>A | No |
ClinGen ExAC TOPMed |
|
|
CA878181 rs751146839 |
15 | V>G | No |
ClinGen ExAC TOPMed |
|
|
rs756690542 CA878183 |
15 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA878180 rs777279030 |
17 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA340534490 rs1465573841 |
17 | A>V | No |
ClinGen TOPMed |
|
|
rs1320493825 CA340534479 |
18 | A>V | No |
ClinGen Ensembl |
|
|
CA340534470 rs1203085696 |
19 | G>E | No |
ClinGen gnomAD |
|
|
rs1254108602 CA340534476 CA340534475 |
19 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 20 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22884736 rs1025073405 |
20 | A>T | No |
ClinGen Ensembl |
|
|
CA878178 rs370237764 |
21 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA878177 rs543713311 |
22 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340534421 rs1227003630 |
23 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA340534430 rs1569824054 |
23 | G>R | No |
ClinGen Ensembl |
|
|
CA22882328 rs923931294 |
24 | S>G | No |
ClinGen TOPMed |
|
|
rs1382816107 CA340534127 |
24 | S>R | No |
ClinGen gnomAD |
|
|
rs566901970 CA878160 |
25 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340534111 rs1428172378 |
26 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs564465244 CA22882327 |
28 | T>I | No |
ClinGen Ensembl |
|
|
CA878159 rs752369998 |
32 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1318767996 CA340534038 |
34 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 35 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA878157 rs756442045 |
36 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA878155 rs767901127 |
37 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA878154 rs762382863 |
41 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs764254549 CA878152 |
44 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA878151 rs763171017 |
48 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312663261 CA340533810 |
49 | I>M | No |
ClinGen TOPMed |
|
|
rs1386132301 CA340533523 |
52 | T>I | No |
ClinGen TOPMed |
|
|
CA878129 rs141971359 |
53 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340533498 rs1324130267 |
54 | D>G | No |
ClinGen TOPMed |
|
|
rs752883201 CA878128 |
56 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs765497450 CA878127 |
59 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA878126 rs759843361 |
60 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340533401 rs1487760907 |
63 | A>V | No |
ClinGen gnomAD |
|
|
CA878125 rs776249864 |
70 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340533310 rs1428817070 |
72 | E>K | No |
ClinGen gnomAD |
|
|
rs766220236 CA878124 |
73 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1569795584 CA340532704 |
74 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 77 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 79 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336523767 CA340532656 |
80 | S>* | No |
ClinGen TOPMed |
|
| TCGA novel | 80 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377102315 CA878101 |
80 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA878098 rs768128851 |
82 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA878099 rs768128851 |
82 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385755521 CA340532643 |
82 | P>S | No |
ClinGen gnomAD |
|
|
rs1204199034 CA340532638 |
83 | E>G | No |
ClinGen TOPMed |
|
|
CA340532636 rs1204199034 |
83 | E>V | No |
ClinGen TOPMed |
|
|
CA340532632 rs1243884423 |
84 | K>E | No |
ClinGen gnomAD |
|
|
rs1382037687 CA340532625 |
85 | V>I | No |
ClinGen gnomAD |
|
|
rs1316030857 CA340532613 |
86 | W>C | No |
ClinGen gnomAD |
|
|
CA340532600 rs1454736366 |
88 | D>G | No |
ClinGen gnomAD |
|
|
rs775201985 CA878096 |
89 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs540061110 CA340532570 |
92 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs779341703 CA878095 |
92 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540061110 CA22879968 |
92 | D>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs867190736 CA22879963 |
93 | D>Y | No |
ClinGen Ensembl |
|
|
rs1162162785 CA340532560 |
94 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747340542 CA878093 |
96 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA878092 rs371957963 |
97 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340532499 rs1490180601 |
100 | L>P | No |
ClinGen gnomAD |
|
|
rs777618726 CA22879892 |
100 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1049873519 CA22879887 |
101 | Q>P | No |
ClinGen TOPMed |
|
|
rs1337455512 CA340532476 |
104 | A>T | No |
ClinGen gnomAD |
|
|
rs1250981630 CA340532471 |
104 | A>V | No |
ClinGen gnomAD |
|
|
CA340532461 rs1228364942 |
106 | I>V | No |
ClinGen gnomAD |
|
|
CA340532454 rs1309663528 |
107 | M>V | No |
ClinGen gnomAD |
|
|
CA340532432 rs201362188 |
108 | V>A | No |
ClinGen TOPMed |
|
|
rs201362188 CA22879409 |
108 | V>E | No |
ClinGen TOPMed |
|
|
CA878047 rs762257713 |
108 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340532428 rs953474203 |
109 | H>P | No |
ClinGen TOPMed |
|
|
CA340532425 rs1459137865 |
109 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA22879405 rs953474203 |
109 | H>R | No |
ClinGen TOPMed |
|
|
CA340532421 rs1203219415 |
110 | S>C | No |
ClinGen gnomAD |
|
|
CA878046 rs774871950 |
110 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA340532422 rs1203219415 |
110 | S>Y | No |
ClinGen gnomAD |
|
|
COSM911140 CA340532419 rs1462070962 |
111 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA340532418 rs1462070962 |
111 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA22879399 rs923323604 |
112 | T>A | No |
ClinGen TOPMed |
|
|
rs769143528 CA878045 |
113 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs776109885 CA878043 |
114 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776109885 CA878044 |
114 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280645189 CA340532392 |
115 | A>V | No |
ClinGen gnomAD |
|
|
CA340532380 rs1378401758 |
117 | Y>S | No |
ClinGen gnomAD |
|
|
CA340532370 rs1431870581 |
118 | S>L | No |
ClinGen TOPMed |
|
|
rs976633155 CA22879395 |
119 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1312490986 CA340532369 |
119 | V>I | No |
ClinGen gnomAD |
|
|
CA340532354 rs1335987439 |
121 | W>G | No |
ClinGen gnomAD |
|
|
CA878042 rs751390112 |
122 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA878041 rs371554081 |
123 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA878040 rs201929092 |
127 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1183033230 CA340532299 |
129 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1445523172 CA340532297 |
129 | F>Y | No |
ClinGen gnomAD |
|
|
CA878039 rs757481542 |
131 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 132 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340532039 rs1475304329 |
134 | A>S | No |
ClinGen gnomAD |
|
|
rs775853091 CA878022 |
135 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs866468317 CA22874824 |
138 | R>* | No |
ClinGen gnomAD |
|
|
rs866468317 CA340532014 |
138 | R>G | No |
ClinGen gnomAD |
|
|
CA878021 rs770341254 |
138 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340531963 rs1268779142 |
142 | K>E | No |
ClinGen gnomAD |
|
|
CA340531927 rs1221176451 |
143 | I>M | No |
ClinGen gnomAD |
|
|
rs1569780610 CA340531862 |
147 | I>M | No |
ClinGen Ensembl |
|
|
CA878019 rs776695482 |
147 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1212400681 CA340531857 |
148 | G>E | No |
ClinGen gnomAD |
|
|
CA22874788 CA340531833 rs949357484 |
149 | S>R | No |
ClinGen TOPMed |
|
|
CA878018 rs370333619 |
150 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA22874772 rs747254276 |
150 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA878017 rs747254276 |
150 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs778106048 CA878016 |
151 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA878014 rs748043415 |
152 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758098264 CA878015 |
152 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340531755 rs1437299254 |
155 | V>M | No |
ClinGen gnomAD |
|
|
rs1351640447 CA340531730 |
157 | S>G | No |
ClinGen gnomAD |
|
|
CA878013 rs778704386 |
158 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420465415 CA340531555 |
165 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA877996 rs747841585 |
168 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs965066547 CA22873118 |
169 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA877992 rs780176891 |
170 | G>D | No |
ClinGen ExAC |
|
|
rs569512271 CA877994 |
170 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569512271 CA877993 |
170 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1282135402 CA340529914 |
176 | P>L | No |
ClinGen TOPMed |
|
|
rs924259250 CA22873090 |
176 | P>S | No |
ClinGen TOPMed |
|
|
CA340529890 rs1177209266 |
178 | Q>K | No |
ClinGen gnomAD |
|
|
CA877991 rs549691874 |
178 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340529849 rs1345631290 |
179 | K>N | No |
ClinGen TOPMed |
|
|
rs1569772066 CA340529847 |
180 | T>P | No |
ClinGen Ensembl |
|
|
CA877989 rs748536103 |
181 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756936767 CA877988 |
182 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs752961866 CA877987 |
183 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs968906103 CA340529720 |
184 | L>F | No |
ClinGen TOPMed |
|
|
rs916080931 CA22873057 |
184 | L>H | No |
ClinGen Ensembl |
|
|
rs968906103 CA22873058 |
184 | L>I | No |
ClinGen TOPMed |
|
|
CA340529667 rs1557519197 |
186 | V>D | No |
ClinGen Ensembl |
|
|
CA877986 rs765612214 |
188 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1459836977 CA340529561 |
189 | E>K | No |
ClinGen gnomAD |
|
|
rs1210531714 CA340529549 |
190 | D>N | No |
ClinGen gnomAD |
|
|
CA877984 rs373071983 |
190 | D>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA340529514 rs1252397053 |
191 | K>E | No |
ClinGen TOPMed |
|
|
rs1313938454 CA340529494 |
191 | K>I | No |
ClinGen gnomAD |
|
|
rs141778225 CA877983 |
194 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA22873033 rs377468984 |
194 | K>N | No |
ClinGen ESP TOPMed |
|
|
CA877981 rs565011535 |
195 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565011535 CA877982 |
195 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762129514 CA877979 |
198 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA877977 rs17118103 |
200 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA877976 rs17118103 VAR_051814 |
200 | C>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs745306056 CA877973 |
203 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1158945298 CA340529174 |
204 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA22872983 rs958860111 |
204 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1003682407 CA22872975 |
205 | A>V | No |
ClinGen Ensembl |
|
|
rs780783168 CA877972 |
207 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA22872964 rs201911526 |
210 | N>S | No |
ClinGen Ensembl |
|
|
CA877971 rs756809171 |
211 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA340529078 rs1255028010 |
211 | A>V | No |
ClinGen gnomAD |
|
|
rs1557519058 CA340529069 |
212 | V>E | No |
ClinGen Ensembl |
|
|
rs1182300301 CA340529075 |
212 | V>I | No |
ClinGen gnomAD |
|
|
rs751202035 CA877970 |
213 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340528999 rs1258903458 |
217 | L>F | No |
ClinGen gnomAD |
|
|
CA22872947 rs961085993 |
217 | L>S | No |
ClinGen Ensembl |
|
|
CA340528996 rs1365599183 |
218 | S>P | No |
ClinGen TOPMed |
|
|
rs1354535990 CA340528966 |
220 | D>V | No |
ClinGen gnomAD |
|
|
CA340528972 rs1214921590 |
220 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 222 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340528929 rs1288315988 |
222 | E>V | No |
ClinGen TOPMed gnomAD |
|
| rs762364885 | 222 | E>missing | Variant assessed as Somatic; 0.00102 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340528918 rs1243861358 |
223 | V>I | No |
ClinGen gnomAD |
|
|
rs747585987 CA22872927 |
225 | I>T | No |
ClinGen Ensembl |
|
|
rs1214331831 CA340528863 |
226 | T>A | No |
ClinGen TOPMed |
|
|
CA340528838 rs1296797563 |
227 | D>G | No |
ClinGen TOPMed |
|
|
rs1244340136 CA340528802 |
229 | V>A | No |
ClinGen TOPMed |
|
|
CA340528806 rs1360251361 |
229 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA22872893 rs376969038 |
230 | D>G | No |
ClinGen ESP |
|
|
rs1420877076 CA340528793 |
230 | D>H | No |
ClinGen gnomAD |
|
|
CA877965 rs766815751 |
231 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM162769 CA877964 rs756651898 |
234 | S>F | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA877963 rs750433136 |
235 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340528683 rs1240551852 |
236 | T>A | No |
ClinGen TOPMed |
|
|
CA340528659 rs1192642948 |
237 | P>L | No |
ClinGen gnomAD |
|
|
rs780097660 CA22872842 |
237 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA877961 rs201248747 |
238 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774706191 CA877960 |
240 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901280980 CA22872818 |
241 | S>C | No |
ClinGen gnomAD |
|
|
CA340528588 rs1266285839 |
242 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA877959 rs764481242 |
245 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764481242 CA340528524 |
245 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400976533 CA340528450 |
249 | F>S | No |
ClinGen gnomAD |
|
|
rs1343008122 CA340528437 |
250 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1344212172 CA340528429 |
251 | N>H | No |
ClinGen TOPMed |
|
|
rs202033823 CA340528409 |
252 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202033823 CA877957 |
252 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA877956 rs769571645 |
255 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA22872779 rs1050524816 |
257 | T>I | No |
ClinGen TOPMed |
|
|
CA340528302 rs1368247472 |
258 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA877955 rs745850256 |
258 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA340528281 rs1314947770 |
259 | Q>P | No |
ClinGen TOPMed |
|
|
rs1484450466 CA340528179 |
263 | I>N | No |
ClinGen gnomAD |
|
|
VAR_051815 CA877952 rs12139511 |
264 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA340528157 rs1477989526 |
264 | T>N | No |
ClinGen gnomAD |
|
|
CA340528132 rs1425711276 |
265 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA340528135 rs1425711276 |
265 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1268197860 CA340527952 |
271 | L>P | No |
ClinGen gnomAD |
|
|
rs367599191 CA877950 |
272 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749595480 CA340527851 |
275 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877949 rs749595480 |
275 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340527721 rs1219639837 |
278 | G>D | No |
ClinGen gnomAD |
|
|
CA340527696 rs374418454 |
279 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA877948 rs374418454 |
279 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182823204 CA340527418 |
286 | D>G | No |
ClinGen TOPMed |
|
|
rs201666716 CA877947 |
289 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473761775 CA340527261 |
291 | S>R | No |
ClinGen TOPMed |
|
|
CA340527232 rs1156778052 |
292 | S>L | No |
ClinGen TOPMed |
|
|
CA340527177 rs1332146831 |
293 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA877946 rs41287660 |
294 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368671263 CA877945 |
295 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751698182 CA877943 |
297 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1357051368 CA340526931 |
301 | Q>K | No |
ClinGen gnomAD |
|
|
CA877941 rs764356567 |
302 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340526858 rs1336529303 |
303 | N>S | No |
ClinGen TOPMed |
|
|
rs1378119643 CA340526835 |
304 | G>D | No |
ClinGen gnomAD |
|
|
CA877939 RCV000955718 rs116675366 |
306 | K>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs776618649 CA877935 |
308 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA877936 rs759299916 |
308 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs770840414 CA877934 |
309 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340526665 rs1346416115 |
310 | E>A | No |
ClinGen gnomAD |
|
|
rs367953279 CA877933 |
311 | L>S | No |
ClinGen ESP ExAC TOPMed |
|
|
CA877931 rs771661685 |
312 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA340526630 rs1234806273 |
312 | N>S | No |
ClinGen gnomAD |
|
|
CA877930 rs747826724 |
314 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1308119905 CA340526547 |
315 | K>N | No |
ClinGen gnomAD |
|
|
CA340526395 rs1289186979 |
319 | L>F | No |
ClinGen gnomAD |
|
|
CA877929 rs778467199 |
320 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA22872532 rs767189986 |
324 | N>K | No |
ClinGen gnomAD |
|
|
CA877928 rs756475573 |
324 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877927 rs746288716 |
327 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA340526191 rs1402827502 |
328 | G>R | No |
ClinGen gnomAD |
|
|
CA877926 rs781678256 |
329 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877925 rs371158428 |
332 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374076928 CA877924 |
332 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778032807 CA877923 |
333 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs981893790 CA22872493 |
334 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA340526073 rs1441825713 |
334 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA877922 rs758592022 |
335 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA340526028 rs1263488117 |
337 | Q>* | No |
ClinGen TOPMed |
|
|
rs752946636 CA877921 |
341 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1569769657 CA340525836 |
344 | C>W | No |
ClinGen Ensembl |
|
| TCGA novel | 346 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370791777 CA877920 |
348 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 349 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 349 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340525686 rs1240225868 |
352 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340525665 rs1355491547 |
353 | N>D | No |
ClinGen gnomAD |
|
|
rs376074310 CA877919 |
353 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340525632 rs1340793610 |
354 | E>G | No |
ClinGen gnomAD |
|
|
rs373078499 CA877917 |
356 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA877918 rs753579413 |
356 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA877916 rs201608056 |
358 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA22872430 rs201608056 |
358 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| TCGA novel | 359 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA877915 rs772666295 |
360 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA340525537 rs1359797436 |
360 | C>Y | No |
ClinGen gnomAD |
|
|
rs200364577 CA22872419 |
361 | Q>H | No |
ClinGen gnomAD |
|
|
CA877914 rs371136355 |
363 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs554392691 CA877913 |
364 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340525418 rs1473350539 |
366 | S>G | No |
ClinGen gnomAD |
|
|
CA340525370 rs1176735746 |
367 | H>L | No |
ClinGen TOPMed |
|
|
CA340525356 rs1403286466 |
368 | E>Q | No |
ClinGen TOPMed |
|
|
rs774036757 CA877912 |
370 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1416523297 CA340525277 |
371 | E>D | No |
ClinGen TOPMed |
|
|
rs1488284740 CA340525267 |
372 | L>F | No |
ClinGen gnomAD |
|
|
rs768201924 CA877911 |
375 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA877909 rs374137498 |
378 | E>D | No |
ClinGen ESP ExAC |
|
|
CA877908 rs369699765 |
379 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340525033 rs1227341831 |
381 | I>M | No |
ClinGen gnomAD |
|
|
CA877907 rs376532259 |
381 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410495381 CA340525025 |
382 | D>V | No |
ClinGen TOPMed |
|
|
CA340524967 rs1285779925 |
384 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1343759383 CA340524980 |
384 | N>Y | No |
ClinGen TOPMed |
|
|
rs1284166098 CA340524944 |
385 | I>V | No |
ClinGen TOPMed |
|
|
CA340524880 rs1339766658 |
388 | E>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 389 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA877906 rs778474422 |
389 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs752787642 CA877903 |
392 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs372791912 CA877901 |
393 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1569768975 CA340524778 |
393 | A>P | No |
ClinGen Ensembl |
|
|
rs755168919 CA877900 |
394 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs753619199 CA877899 |
395 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340524720 rs753619199 |
395 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340524639 rs1207246874 |
397 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 398 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA877898 rs369461470 |
401 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202116499 CA877896 |
401 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA877897 rs202116499 |
401 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA877894 rs761250576 |
403 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA340524490 rs1291570514 |
404 | K>E | No |
ClinGen gnomAD |
|
|
CA340524482 rs1469364282 |
404 | K>I | No |
ClinGen gnomAD |
|
|
rs368632924 CA877892 |
406 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340524457 rs368632924 |
406 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs183151957 CA877890 |
407 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs183151957 CA877889 |
407 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA877888 rs747437450 |
408 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA340524426 rs1365379747 |
408 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1365379747 CA340524424 |
408 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772710310 CA877886 |
409 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1324453521 CA340524322 |
411 | K>R | No |
ClinGen TOPMed |
|
|
CA340524267 rs1557518132 |
414 | N>H | No |
ClinGen Ensembl |
|
|
rs1465452577 CA340524254 |
414 | N>K | No |
ClinGen gnomAD |
|
|
CA877884 rs534620285 |
414 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1333089586 CA340524161 |
418 | D>G | No |
ClinGen TOPMed |
|
|
CA340524114 rs749437266 CA877882 |
420 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 421 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA22869215 rs529297290 |
421 | E>K | No |
ClinGen 1000Genomes |
|
|
rs748632967 CA877865 |
422 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22869212 rs748632967 |
422 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22869211 rs756125704 |
423 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA877863 rs768592316 |
424 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA877862 rs749440729 |
424 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs780246003 CA877861 |
425 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA340521973 rs1352423437 |
428 | L>V | No |
ClinGen TOPMed |
|
|
CA340521929 rs1389829182 |
431 | T>A | No |
ClinGen gnomAD |
|
|
CA877859 rs745618010 |
432 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA877858 rs780998329 |
434 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA877857 rs757119066 COSM1667582 |
434 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs751431658 CA877856 |
435 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs543376699 CA877854 |
439 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340521809 rs1156376366 |
440 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752260222 CA877853 |
444 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877850 rs373663858 |
448 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA877851 rs759284652 |
448 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA340521707 rs1182210069 |
449 | I>F | No |
ClinGen gnomAD |
|
|
rs767741215 CA877849 |
449 | I>N | No |
ClinGen ExAC |
|
|
CA340521685 rs1260926154 |
450 | H>Q | No |
ClinGen gnomAD |
|
|
CA22869139 rs1030654515 |
450 | H>Y | No |
ClinGen TOPMed |
|
|
CA340521681 rs1184172012 |
451 | T>A | No |
ClinGen TOPMed |
|
|
CA340521675 rs1236428340 |
451 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 452 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA877845 rs749256385 |
454 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749256385 CA340521640 |
454 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043661182 CA22869127 |
456 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767475214 CA22869126 |
457 | G>R | No |
ClinGen gnomAD |
|
|
rs1313964648 CA340521557 |
460 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1175017140 CA340521550 |
460 | N>S | No |
ClinGen TOPMed |
|
|
CA877844 rs200283055 |
462 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340521488 rs1268349780 |
465 | Q>H | No |
ClinGen gnomAD |
|
|
rs771190306 CA340521480 |
467 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771190306 CA877819 |
467 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746725651 CA877818 |
468 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA340521468 rs1199646223 |
469 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs549795162 CA877817 |
469 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA22868066 rs549795162 |
469 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA22868037 rs1011184812 |
472 | Q>E | No |
ClinGen TOPMed |
|
|
CA877815 rs748065332 |
478 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs779040700 CA877814 |
478 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1366568192 CA340521400 |
479 | I>M | No |
ClinGen gnomAD |
|
|
CA877813 COSM2156911 rs754518772 |
481 | D>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1271996036 CA340521381 |
482 | R>K | No |
ClinGen TOPMed |
|
|
CA877812 rs753463276 |
484 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1465889554 CA340521357 |
486 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA340521336 rs1288597376 |
489 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA877811 rs779502244 |
490 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs376296690 CA877809 |
491 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA340521311 rs1175570663 |
493 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763360736 CA877807 |
494 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877806 rs753193374 |
494 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763360736 CA877808 |
494 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340521289 rs894676049 |
496 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1179658780 CA340521291 |
496 | Q>R | No |
ClinGen gnomAD |
|
|
CA340521280 rs577569345 |
498 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 498 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA877805 rs577569345 |
498 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877784 rs753820164 |
499 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA877783 rs199719141 |
499 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760715510 CA877782 |
500 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877781 rs773468629 |
500 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs774297380 CA877778 |
503 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA877776 rs368639631 |
503 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA877777 rs368639631 |
503 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA877774 rs769335750 |
505 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260755601 CA340520904 |
505 | V>I | No |
ClinGen TOPMed |
|
|
rs780757165 CA877772 |
506 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA877771 rs756917972 |
506 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs925513046 CA22866631 |
507 | D>A | No |
ClinGen TOPMed |
|
|
rs1192083556 CA340520887 |
508 | P>S | No |
ClinGen gnomAD |
|
|
rs1261904700 CA340520882 |
509 | W>R | No |
ClinGen gnomAD |
|
|
rs749287506 CA877770 |
511 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340520862 rs1569738749 |
511 | N>K | No |
ClinGen Ensembl |
|
|
CA340520852 rs763504196 |
513 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877769 rs763504196 |
513 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877768 rs201489900 |
513 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340520841 rs1335180983 |
514 | D>V | No |
ClinGen gnomAD |
|
|
CA340520844 rs1209032282 |
514 | D>Y | No |
ClinGen gnomAD |
|
|
rs1295086851 CA340520811 |
518 | L>F | No |
ClinGen gnomAD |
|
|
rs1473233872 CA340520791 |
521 | Q>R | No |
ClinGen TOPMed |
|
|
CA877765 COSM535865 rs766852339 |
522 | T>M | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1411183384 CA340520724 |
526 | L>P | No |
ClinGen gnomAD |
|
|
rs751821039 CA877742 |
527 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA877741 rs201737420 |
527 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 530 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 534 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169624654 CA340520625 |
535 | R>K | No |
ClinGen gnomAD |
|
|
CA877738 rs202233038 |
536 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340520601 rs1415695813 |
537 | E>K | No |
ClinGen gnomAD |
|
|
CA340520589 rs1485436191 |
538 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA877736 rs776591370 |
542 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA340520541 rs1206593469 |
543 | V>I | No |
ClinGen gnomAD |
|
|
rs1310348417 CA340520494 |
547 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA22865384 rs889800130 |
549 | P>R | No |
ClinGen TOPMed |
|
|
rs1235104750 CA340520468 |
550 | R>K | No |
ClinGen gnomAD |
|
|
rs1307273176 CA340520453 |
551 | P>Q | No |
ClinGen gnomAD |
|
|
CA340520455 rs1350327170 |
551 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1207334962 CA340520448 |
552 | T>A | No |
ClinGen gnomAD |
|
|
CA340520444 rs1239900544 |
552 | T>K | No |
ClinGen gnomAD |
|
|
CA877719 rs186559420 |
555 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758571058 CA877718 |
557 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA340520170 rs1295791975 |
558 | P>T | No |
ClinGen gnomAD |
|
|
CA340520161 rs1411326344 |
559 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA877715 rs759424002 |
563 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445834146 CA340520103 |
567 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 568 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340520096 rs1331914191 |
568 | S>N | No |
ClinGen TOPMed |
|
|
rs775930259 CA877714 |
570 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417102333 CA340520068 |
571 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340519969 rs1307522674 |
578 | K>E | No |
ClinGen gnomAD |
|
|
rs779251652 CA877690 |
581 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1369769185 CA340519903 |
583 | A>V | No |
ClinGen gnomAD |
|
|
CA877689 rs764050036 |
586 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340519830 rs1442745652 |
589 | L>M | No |
ClinGen gnomAD |
|
|
COSM3930832 rs1363632425 CA340519728 |
595 | M>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1485035918 CA340519666 |
604 | G>* | No |
ClinGen gnomAD |
|
|
CA340519656 rs750302428 |
605 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198372392 CA340519630 |
609 | V>A | No |
ClinGen TOPMed |
|
|
rs1212640977 CA340519632 |
609 | V>L | No |
ClinGen gnomAD |
|
|
CA340519626 rs1348085300 |
610 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340519616 rs1278810584 |
611 | K>R | No |
ClinGen gnomAD |
|
|
rs1337483308 CA340519608 |
612 | V>A | No |
ClinGen gnomAD |
|
|
CA877667 rs767560916 |
612 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877650 rs780300952 |
616 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 617 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340519544 rs1164645765 |
620 | P>S | No |
ClinGen gnomAD |
|
|
CA340519538 rs1470239280 |
621 | C>G | No |
ClinGen TOPMed |
|
|
CA340519527 rs1420572719 |
622 | N>S | No |
ClinGen gnomAD |
|
|
rs1422703292 CA340519488 |
628 | L>P | No |
ClinGen TOPMed |
|
|
CA877647 rs377116507 |
630 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780935957 CA877646 |
632 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA340519434 rs1176085674 |
636 | S>P | No |
ClinGen TOPMed |
|
|
CA22862626 rs946033044 |
639 | Q>* | No |
ClinGen Ensembl |
|
|
CA877644 rs563752376 |
639 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1236481200 CA340519385 |
643 | T>S | No |
ClinGen gnomAD |
|
|
rs937561496 CA22862614 |
649 | F>V | No |
ClinGen Ensembl |
|
|
rs758032156 CA877642 |
649 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1471220528 CA340519315 |
654 | W>* | No |
ClinGen TOPMed |
|
|
rs745578870 CA877641 |
655 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs745578870 CA22862597 |
655 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA877640 rs765047384 |
657 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 659 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 663 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM911134 rs371863569 CA877637 |
668 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1353990502 CA340519220 |
668 | R>Q | No |
ClinGen TOPMed |
|
|
CA340519217 rs1443078907 |
669 | D>N | No |
ClinGen TOPMed |
|
|
CA877636 rs762409578 |
670 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340519194 rs1397355437 |
671 | D>E | No |
ClinGen gnomAD |
|
|
rs1168908076 CA340519186 |
672 | T>K | No |
ClinGen gnomAD |
|
|
CA523276280 rs1409861362 |
673 | Q>N | No |
ClinGen gnomAD |
|
|
CA340519166 rs1418224646 |
674 | A>T | No |
ClinGen gnomAD |
|
|
rs759777272 CA877613 |
684 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA340518744 rs1223506960 |
685 | A>G | No |
ClinGen gnomAD |
|
|
CA340518741 rs1374707453 |
686 | K>E | No |
ClinGen gnomAD |
|
|
CA340518715 rs1411158094 |
689 | G>A | No |
ClinGen gnomAD |
|
|
rs1311731677 CA340518710 |
690 | M>K | No |
ClinGen gnomAD |
|
|
CA340518674 rs1163697160 |
695 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs931868867 CA22861130 |
696 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs770747091 CA877611 COSM3419349 |
697 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA877610 rs746869330 |
698 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 700 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340518639 rs1387018800 |
700 | P>R | No |
ClinGen TOPMed |
|
|
rs1184314416 CA340518626 |
702 | P>L | No |
ClinGen gnomAD |
|
|
CA22861112 rs540465714 |
702 | P>S | No |
ClinGen Ensembl |
|
|
rs772147645 CA877608 |
705 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA340518571 rs1392595556 |
711 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340518549 rs1569708611 |
714 | E>K | No |
ClinGen Ensembl |
|
|
CA22861071 rs933672241 |
716 | S>N | No |
ClinGen gnomAD |
|
|
rs933672241 CA340518531 |
716 | S>T | No |
ClinGen gnomAD |
|
|
COSM911133 rs1317853949 CA340518521 |
718 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA340518508 rs1244009768 |
719 | G>V | No |
ClinGen TOPMed |
|
|
CA877606 rs778597011 |
720 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA877603 rs200350305 |
722 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA877604 rs200350305 |
722 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA22858445 rs1018079878 |
725 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA22858435 rs1028544744 |
726 | K>R | No |
ClinGen gnomAD |
|
|
CA877590 rs772094481 |
732 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA22858430 rs373671298 |
734 | E>K | No |
ClinGen Ensembl |
|
|
rs369239315 CA877589 |
735 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA877588 rs774199953 |
738 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs781554516 CA877587 |
739 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA340518288 rs1393674482 |
741 | V>I | No |
ClinGen gnomAD |
|
|
rs748812964 CA877586 |
745 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs533470492 CA22858397 |
747 | W>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs769356589 CA877584 |
748 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA340518175 rs1392193050 |
749 | I>M | No |
ClinGen gnomAD |
|
|
rs1429342185 CA340518178 |
749 | I>T | No |
ClinGen gnomAD |
|
|
CA340518166 rs1192171918 |
750 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340518155 rs1468285478 |
751 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1253983328 CA340518139 |
752 | Y>C | No |
ClinGen gnomAD |
|
|
CA877583 rs747337904 |
753 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1265700955 CA340518130 |
753 | R>T | No |
ClinGen TOPMed |
|
|
rs965499184 CA22858365 |
754 | L>P | No |
ClinGen Ensembl |
|
|
CA877580 rs753189664 |
756 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA340518033 rs1391864298 |
758 | S>G | No |
ClinGen gnomAD |
|
|
CA340518026 rs1458637329 |
758 | S>I | No |
ClinGen TOPMed |
|
|
rs772421753 CA877561 |
759 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs529622262 CA877560 |
760 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340518012 rs1434404977 |
760 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340518009 rs1434404977 |
760 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753911600 CA877557 |
761 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753911600 CA877558 |
761 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877559 rs779420285 |
761 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363761418 CA340517984 |
762 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 763 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371696880 CA340517962 |
764 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs141454457 COSM108647 CA877555 RCV001356557 |
766 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA877554 rs557393833 |
766 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA877553 rs557393833 |
766 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA877550 rs200918602 |
767 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA877551 rs751323277 |
767 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1201994089 CA340517926 |
768 | D>N | No |
ClinGen gnomAD |
|
|
CA340517898 rs762769756 |
770 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769280075 CA877547 |
772 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912722517 CA22858134 |
773 | C>F | No |
ClinGen gnomAD |
|
|
rs912722517 CA340517876 |
773 | C>S | No |
ClinGen gnomAD |
|
|
CA22858114 rs966471372 |
774 | L>* | No |
ClinGen Ensembl |
|
|
CA340517854 rs1414189338 |
775 | Q>R | No |
ClinGen gnomAD |
|
|
CA340517838 rs1180156537 |
776 | K>E | No |
ClinGen TOPMed |
|
|
rs1326070481 CA340517725 |
779 | E>Q | No |
ClinGen gnomAD |
|
|
CA340517717 rs1327809718 |
780 | C>R | No |
ClinGen TOPMed |
|
|
rs1392956414 CA340517704 |
781 | M>I | No |
ClinGen gnomAD |
|
|
CA340517690 rs1264046177 |
783 | K>R | No |
ClinGen TOPMed |
|
|
rs1356009771 CA340517666 |
787 | K>E | No |
ClinGen TOPMed |
|
|
rs1027288768 CA22857212 |
790 | N>H | No |
ClinGen Ensembl |
|
|
CA877530 rs536481394 |
790 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22857193 rs964181993 |
791 | C>W | No |
ClinGen Ensembl |
|
|
rs765168255 CA877529 |
795 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 796 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA877528 rs758991975 |
796 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA22857182 rs992452466 |
799 | T>N | No |
ClinGen TOPMed |
|
|
rs1474222832 CA340517565 |
801 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340517558 rs1372081199 |
802 | E>G | No |
ClinGen gnomAD |
|
|
rs1189003437 CA340517552 |
803 | N>Y | No |
ClinGen gnomAD |
|
|
CA877527 rs776144063 |
808 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760211582 CA877525 |
811 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA22857149 rs866312975 |
811 | S>I | No |
ClinGen Ensembl |
|
|
CA340517478 rs1292202311 |
813 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 814 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772963146 CA877524 |
815 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA877523 rs201900540 |
816 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199949280 CA877522 |
818 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776072126 CA877521 |
818 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs368658648 COSM1742418 CA877519 |
819 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
| TCGA novel | 820 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340517428 rs1394994869 |
821 | N>D | No |
ClinGen gnomAD |
|
|
rs781391262 CA877518 |
822 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs532808188 CA22857089 |
823 | T>I | No |
ClinGen 1000Genomes |
|
|
rs532808188 CA340517410 |
823 | T>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 824 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751503401 COSM464811 CA22857060 |
825 | E>D | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
VAR_051816 rs232777 CA877516 |
825 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1393796931 CA340517393 |
826 | L>* | No |
ClinGen TOPMed |
|
|
CA340517375 rs778124222 CA877515 |
828 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q5VVJ2
[MIM: 618116]: Bone marrow failure syndrome 4 (BMFS4)
A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive. {ECO:0000269|PubMed:24288411, ECO:0000269|PubMed:26220525, ECO:0000269|PubMed:28115216}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive. {ECO:0000269|PubMed:24288411, ECO:0000269|PubMed:26220525, ECO:0000269|PubMed:28115216}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for Q5VVJ2
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| cysteine-type deubiquitinase activity | An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| metal ion binding | Binding to a metal ion. |
| metal-dependent deubiquitinase activity | An metal-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| immune system process | Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. |
| monoubiquitinated histone H2A deubiquitination | The removal of the ubiquitin group from a monoubiquitinated histone H2A protein. |
| pigmentation | The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
| regulation of hair follicle development | Any process that modulates the frequency, rate or extent of hair follicle development. |
| regulation of hemopoiesis | Any process that modulates the frequency, rate or extent of hemopoiesis. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q69Z66 | Mysm1 | Deubiquitinase MYSM1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAEEADVDI | EGDVVAAAGA | QPGSGENTAS | VLQKDHYLDS | SWRTENGLIP | WTLDNTISEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NRAVIEKMLL | EEEYYLSKKS | QPEKVWLDQK | EDDKKYMKSL | QKTAKIMVHS | PTKPASYSVK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WTIEEKELFE | QGLAKFGRRW | TKISKLIGSR | TVLQVKSYAR | QYFKNKVKCG | LDKETPNQKT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GHNLQVKNED | KGTKAWTPSC | LRGRADPNLN | AVKIEKLSDD | EEVDITDEVD | ELSSQTPQKN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSSDLLLDFP | NSKMHETNQG | EFITSDSQEA | LFSKSSRGCL | QNEKQDETLS | SSEITLWTEK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QSNGDKKSIE | LNDQKFNELI | KNCNKHDGRG | IIVDARQLPS | PEPCEIQKNL | NDNEMLFHSC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QMVEESHEEE | ELKPPEQEIE | IDRNIIQEEE | KQAIPEFFEG | RQAKTPERYL | KIRNYILDQW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EICKPKYLNK | TSVRPGLKNC | GDVNCIGRIH | TYLELIGAIN | FGCEQAVYNR | PQTVDKVRIR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DRKDAVEAYQ | LAQRLQSMRT | RRRRVRDPWG | NWCDAKDLEG | QTFEHLSAEE | LAKRREEEKG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RPVKSLKVPR | PTKSSFDPFQ | LIPCNFFSEE | KQEPFQVKVA | SEALLIMDLH | AHVSMAEVIG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LLGGRYSEVD | KVVEVCAAEP | CNSLSTGLQC | EMDPVSQTQA | SETLAVRGFS | VIGWYHSHPA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FDPNPSLRDI | DTQAKYQSYF | SRGGAKFIGM | IVSPYNRNNP | LPYSQITCLV | ISEEISPDGS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YRLPYKFEVQ | QMLEEPQWGL | VFEKTRWIIE | KYRLSHSSVP | MDKIFRRDSD | LTCLQKLLEC |
| 790 | 800 | 810 | 820 | ||
| MRKTLSKVTN | CFMAEEFLTE | IENLFLSNYK | SNQENGVTEE | NCTKELLM |