Q92979
Gene name |
EMG1 |
Protein name |
Ribosomal RNA small subunit methyltransferase NEP1 |
Names |
18S rRNA (pseudouridine(1248)-N1)-methyltransferase, 18S rRNA Psi1248 methyltransferase, Nucleolar protein EMG1 homolog, Protein C2f, Ribosome biogenesis protein NEP1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10436 |
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
5 structures for Q92979
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5FAI | X-ray | 180 A | A | 14-244 | PDB |
| 7MQ8 | EM | 360 A | SJ/SK | 1-244 | PDB |
| 7MQ9 | EM | 387 A | SJ/SK | 1-244 | PDB |
| 7MQA | EM | 270 A | SJ/SK | 1-244 | PDB |
| AF-Q92979-F1 | Predicted | AlphaFoldDB |
232 variants for Q92979
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000947413 rs60117710 RCV001664562 |
43 | L>missing | Bowen-Conradi syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000000938 CA114613 VAR_062480 rs74435397 |
86 | D>G | Bowen-conradi syndrome (bwcns) Bowen-Conradi syndrome BWCNS; studies in fibroblasts show a dramatically reduced level of EMG1 protein in a BWCNS-affected patient compared to normal fibroblasts although patient fibroblasts do not have complete EMG1 deficiency; the mutation increases dimerization of EMG1 subunits suggesting that aggregation of EMG1 leads to reduced levels of the protein [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA383680276 rs1555152059 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs376055535 CA6422598 |
5 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383680317 rs149578211 |
5 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6422600 rs782711576 |
6 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs782118451 CA383680333 |
7 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782778398 CA6422602 |
7 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782778398 CA383680335 |
7 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782118451 CA6422601 |
7 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383680358 rs782550075 |
8 | F>L | No |
ClinGen ExAC |
|
|
CA383680341 rs1231453871 |
8 | F>V | No |
ClinGen TOPMed |
|
|
CA6422607 rs782722332 CA6422606 |
9 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA383680379 rs1320278594 |
10 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383680388 rs782479150 |
11 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA232443112 rs372361920 |
11 | R>P | No |
ClinGen ESP gnomAD |
|
|
CA6422608 rs782479150 |
11 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA383680397 rs1555152086 |
12 | E>K | No |
ClinGen gnomAD |
|
|
CA383680413 rs782628939 |
13 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6422610 RCV000514815 rs36061201 |
13 | R>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782546340 CA6422612 |
14 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs782249279 CA232443118 |
14 | S>R | No |
ClinGen Ensembl |
|
|
rs782546340 CA6422611 |
14 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6422613 rs782175380 |
15 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs782604752 CA6422616 |
16 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782324364 CA6422615 |
16 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1338492839 CA383680462 |
17 | E>V | No |
ClinGen TOPMed |
|
|
rs782233712 CA6422617 |
18 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402722258 CA383680471 |
18 | Q>R | No |
ClinGen TOPMed |
|
|
CA6422619 rs369617092 |
19 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6422620 rs369617092 |
19 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555152118 CA383680484 |
19 | A>V | No |
ClinGen gnomAD |
|
|
CA6422621 rs782150637 |
20 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA383680509 rs906784380 |
21 | D>E | No |
ClinGen gnomAD |
|
|
CA6422622 rs782438220 |
21 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383680536 rs1555152123 |
22 | W>C | No |
ClinGen gnomAD |
|
|
CA383680540 rs1555152124 |
23 | D>N | No |
ClinGen gnomAD |
|
|
rs1555152126 CA383680564 |
24 | A>D | No |
ClinGen gnomAD |
|
|
CA383680579 rs1555152130 |
25 | L>P | No |
ClinGen gnomAD |
|
|
rs782075048 CA383680596 |
27 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs782075048 CA6422624 |
27 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782743040 CA6422625 |
28 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA232443138 rs1003756868 |
28 | K>R | No |
ClinGen gnomAD |
|
|
CA383680603 rs1003756868 |
28 | K>T | No |
ClinGen gnomAD |
|
|
rs781851789 CA6422626 |
30 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782126924 CA6422627 |
31 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383680733 rs1370835199 |
33 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
VAR_050237 RCV000202817 rs11064480 CA249018 |
34 | A>G | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6422630 rs782495453 |
34 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782495453 CA6422629 |
34 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232443144 rs3168594 |
35 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA232443148 rs952438354 |
37 | K>E | No |
ClinGen Ensembl |
|
|
CA6422632 rs781824161 |
38 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs782633987 CA6422634 |
39 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383680886 rs1555152153 |
40 | G>D | No |
ClinGen gnomAD |
|
|
CA6422635 rs782266941 |
41 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782414000 CA6422636 |
41 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA232443159 rs200041551 |
42 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 42 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17857448 CA232443166 CA232443164 |
42 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 43 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218217281 CA383681046 |
48 | E>K | No |
ClinGen TOPMed |
|
|
rs781966739 CA6422639 |
50 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782103478 CA6422640 |
51 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383681129 rs375042715 |
52 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383681178 rs1555152172 |
54 | T>I | No |
ClinGen gnomAD |
|
|
rs1555152177 CA383681182 |
55 | V>I | No |
ClinGen gnomAD |
|
|
rs1591705284 CA383681204 |
56 | K>Q | No |
ClinGen Ensembl |
|
|
rs1555152678 CA383682480 |
59 | K>R | No |
ClinGen gnomAD |
|
|
rs373473870 CA383682503 |
61 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1555152684 | 61 | Y>* | Variant assessed as Somatic; 4.659e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6422662 rs782339755 |
61 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs782793844 CA6422665 |
63 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs782174904 CA6422667 |
65 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1464487209 CA383682602 |
66 | C>Y | No |
ClinGen TOPMed |
|
|
CA6422668 rs782707397 |
67 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs782483867 CA6422670 |
69 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs782521916 CA6422673 |
72 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs377272519 CA6422672 |
72 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782749715 CA6422671 |
72 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782172949 CA383682765 |
73 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555152708 CA383682809 |
76 | N>D | No |
ClinGen gnomAD |
|
|
CA383682838 rs1555152709 |
76 | N>S | No |
ClinGen gnomAD |
|
|
CA6422677 rs782601712 |
77 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA383682881 rs782179643 |
78 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782693598 CA6422681 |
78 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6422679 rs782179643 |
78 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383682912 rs1387282151 |
79 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA383682907 rs1555152718 |
79 | D>Y | No |
ClinGen gnomAD |
|
|
CA6422682 rs782276276 |
81 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782422549 CA6422683 |
83 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555152726 CA383682979 |
83 | A>T | No |
ClinGen gnomAD |
|
|
rs782422549 CA6422684 |
83 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782735967 CA6422686 |
84 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782803599 CA6422688 |
87 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6422689 rs781896004 |
88 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383683137 rs1392318274 |
89 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6422691 rs782703604 |
90 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555152776 CA383683308 |
91 | S>G | No |
ClinGen gnomAD |
|
|
CA6422716 rs781910054 |
94 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs782169084 CA6422715 |
94 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782580920 CA6422718 |
95 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs782456048 CA6422717 |
95 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6422719 rs781831826 |
98 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6422720 rs782486688 |
99 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782438469 CA232443863 |
100 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6422723 rs782418214 |
102 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782563434 CA6422724 |
102 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6422726 rs782190613 |
103 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6422725 rs782190613 |
103 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA383683568 rs1256862599 |
104 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383683573 rs1256862599 |
104 | G>V | No |
ClinGen TOPMed |
|
|
rs781966629 CA6422727 |
106 | L>V | No |
ClinGen ExAC |
|
|
rs1555152797 CA383683605 |
107 | Q>* | No |
ClinGen gnomAD |
|
|
CA6422729 rs782648414 |
108 | V>A | No |
ClinGen ExAC |
|
|
rs1276535579 CA383683655 |
110 | I>M | No |
ClinGen TOPMed |
|
|
rs1484616063 CA383683653 |
110 | I>S | No |
ClinGen TOPMed |
|
|
rs993652525 CA232443878 |
111 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs199566199 CA6422731 |
113 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6422733 rs782018212 |
114 | K>* | No |
ClinGen ExAC |
|
|
CA383683710 CA383683708 rs1555152809 |
114 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1555152813 CA383683719 |
115 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 116 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6422734 rs782169969 |
118 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA383683750 rs1246417980 |
118 | I>V | No |
ClinGen TOPMed |
|
|
CA383683783 rs1555152817 |
120 | V>M | No |
ClinGen gnomAD |
|
|
CA6422736 rs781939868 |
122 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781812160 CA6422737 |
122 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383683873 rs1555152820 |
124 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383683868 rs1555152820 |
124 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6422740 rs782538249 |
125 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383683881 rs1555152823 |
125 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1309066030 CA383683912 |
127 | P>L | No |
ClinGen TOPMed |
|
|
CA6422741 rs782808257 |
129 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782453517 CA6422743 |
133 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs782226901 CA6422745 |
136 | L>H | No |
ClinGen ExAC |
|
|
rs781867583 CA6422766 |
141 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 145 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6422767 rs782548320 |
145 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs782675633 CA6422768 |
146 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6422769 rs782181464 |
147 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6422770 rs782181464 |
147 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383684299 rs1555152914 |
147 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1171472029 CA383684313 |
149 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6422772 rs782235442 |
150 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782008843 CA6422774 |
152 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA232443969 rs782441349 |
152 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs782301311 CA6422776 |
154 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555152940 CA383684428 |
158 | V>L | No |
ClinGen gnomAD |
|
|
CA6422789 rs782493737 |
159 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1284796548 CA383684458 |
161 | N>S | No |
ClinGen TOPMed |
|
|
CA6422791 rs781882780 |
162 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6422790 rs782643000 |
162 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6422792 rs372110507 |
163 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6422793 rs782554231 |
164 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs782554231 CA383684487 |
164 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6422794 rs183026884 |
167 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555152950 CA383684526 |
168 | P>Q | No |
ClinGen gnomAD |
|
|
CA383684532 rs1555152952 |
169 | V>L | No |
ClinGen gnomAD |
|
|
CA6422795 rs782334197 |
171 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383684598 CA6422797 rs782245976 |
172 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383684590 rs1169305243 |
172 | M>T | No |
ClinGen TOPMed |
|
|
rs1555152957 CA383684603 |
173 | K>E | No |
ClinGen gnomAD |
|
|
CA6422798 rs782391946 |
174 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383684685 rs1555152961 |
178 | F>S | No |
ClinGen gnomAD |
|
|
CA383684684 rs1555152961 |
178 | F>Y | No |
ClinGen gnomAD |
|
|
CA6422799 rs782019701 |
179 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6422800 rs782168206 |
181 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782168206 CA383684743 |
181 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782307546 CA6422801 |
182 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383684747 rs1184862119 |
182 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1202716378 CA383684768 |
183 | V>D | No |
ClinGen TOPMed |
|
|
rs781937222 CA6422802 |
184 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383684829 rs1232720535 |
186 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA383684831 rs1232720535 |
186 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201757338 CA6422803 |
186 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782741904 CA6422804 |
187 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782021249 CA383684854 |
187 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782021249 CA6422805 |
187 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782416705 CA6422807 |
190 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555152978 CA383684962 |
193 | S>N | No |
ClinGen gnomAD |
|
|
CA383684986 rs1555152980 |
195 | P>T | No |
ClinGen gnomAD |
|
|
rs375741608 CA232444017 |
196 | I>M | No |
ClinGen Ensembl |
|
|
CA6422810 rs782605254 |
196 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6422811 rs781834410 |
197 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383685011 rs1326057506 |
197 | V>F | No |
ClinGen TOPMed |
|
|
rs1326057506 CA383685008 |
197 | V>I | No |
ClinGen TOPMed |
|
|
CA383685044 rs1555152988 |
199 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 199 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 200 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 201 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971421303 CA232444021 |
202 | A>D | No |
ClinGen Ensembl |
|
|
rs782511052 CA6422812 |
202 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383685111 rs868957078 |
204 | A>V | No |
ClinGen Ensembl |
|
|
rs1591708751 CA383685123 |
205 | H>P | No |
ClinGen Ensembl |
|
|
rs1555152994 CA383685138 |
206 | G>D | No |
ClinGen gnomAD |
|
|
CA383685157 rs1407750518 |
207 | K>R | No |
ClinGen TOPMed |
|
|
rs1555153061 CA383685180 |
208 | V>I | No |
ClinGen gnomAD |
|
|
CA6422824 rs782044745 |
211 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs782710641 CA6422825 |
213 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200470095 CA6422827 |
214 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6422826 rs781943557 |
214 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs200470095 CA383685269 |
214 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782751710 CA6422828 |
216 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6422830 rs782527998 |
217 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6422829 rs781869060 |
217 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA383685331 rs1371430452 |
218 | S>F | No |
ClinGen TOPMed |
|
|
rs1555153073 CA383685320 |
218 | S>T | No |
ClinGen gnomAD |
|
|
CA383686781 rs782819014 |
219 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA6422831 rs782819014 |
219 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6422832 rs781792612 |
220 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383686847 rs1034343918 |
222 | Y>* | No |
ClinGen gnomAD |
|
|
CA383686841 rs1258116000 |
222 | Y>C | No |
ClinGen TOPMed |
|
|
rs1476171611 CA383686835 |
222 | Y>H | No |
ClinGen TOPMed |
|
|
rs74396478 CA6422833 |
223 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs3180956 CA383686893 |
225 | S>F | No |
ClinGen Ensembl |
|
|
rs1555153080 CA383686907 |
226 | A>G | No |
ClinGen gnomAD |
|
|
CA6422835 rs782235929 |
226 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6422836 rs782517421 |
229 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs782647932 CA6422837 |
229 | T>S | No |
ClinGen ExAC |
|
|
CA6422839 rs369750549 |
230 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383687026 rs1252320547 |
233 | L>F | No |
ClinGen TOPMed |
|
|
rs1555153085 CA383687049 |
234 | T>N | No |
ClinGen gnomAD |
|
|
rs187673472 CA6422843 |
235 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6422844 rs374223610 |
236 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336172483 CA383687146 |
238 | E>K | No |
ClinGen TOPMed |
|
|
CA383687221 rs1231926897 |
240 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383687317 rs1555153095 |
241 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs782102656 | 243 | V>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782051183 CA6422848 |
243 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs377663713 CA6422849 |
244 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q92979
No regional properties for Q92979
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q92979 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| 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. |
| small-subunit processome | A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| rRNA (pseudouridine) methyltransferase activity | Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a pseudouridine residue in an rRNA molecule. |
| rRNA binding | Binding to a ribosomal RNA. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| blastocyst development | The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm. |
| nucleologenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. |
| ribosomal small subunit biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a small ribosomal subunit; includes transport to the sites of protein synthesis. |
| rRNA base methylation | The addition of a methyl group to an atom in the nucleoside base portion of a nucleotide residue in an rRNA molecule. |
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9W4J5 | CG3527 | Ribosomal RNA small subunit methyltransferase NEP1 | Drosophila melanogaster (Fruit fly) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAPSDGFKP | RERSGGEQAQ | DWDALPPKRP | RLGAGNKIGG | RRLIVVLEGA | SLETVKVGKT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YELLNCDKHK | SILLKNGRDP | GEARPDITHQ | SLLMLMDSPL | NRAGLLQVYI | HTQKNVLIEV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NPQTRIPRTF | DRFCGLMVQL | LHKLSVRAAD | GPQKLLKVIK | NPVSDHFPVG | CMKVGTSFSI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PVVSDVRELV | PSSDPIVFVV | GAFAHGKVSV | EYTEKMVSIS | NYPLSAALTC | AKLTTAFEEV |
| WGVI |