Q6DKI1
Gene name |
RPL7L1 |
Protein name |
60S ribosomal protein L7-like 1 |
Names |
Large ribosomal subunit protein uL30-like 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:285855 |
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
26 structures for Q6DKI1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8FKP | EM | 285 A | SI | 1-255 | PDB |
| 8FKQ | EM | 276 A | SI | 1-255 | PDB |
| 8FKR | EM | 289 A | SI | 1-255 | PDB |
| 8FKS | EM | 288 A | SI | 1-255 | PDB |
| 8FKT | EM | 281 A | SI | 1-255 | PDB |
| 8FKU | EM | 282 A | SI | 1-255 | PDB |
| 8FKV | EM | 247 A | SI | 1-255 | PDB |
| 8FKW | EM | 250 A | SI | 1-255 | PDB |
| 8FKX | EM | 259 A | SI | 1-255 | PDB |
| 8FKY | EM | 267 A | SI | 1-255 | PDB |
| 8FKZ | EM | 304 A | SI | 1-255 | PDB |
| 8FL2 | EM | 267 A | SI | 1-255 | PDB |
| 8FL3 | EM | 253 A | SI | 1-255 | PDB |
| 8FL4 | EM | 289 A | SI | 1-255 | PDB |
| 8FL6 | EM | 262 A | SI | 1-255 | PDB |
| 8FL7 | EM | 255 A | SI | 1-255 | PDB |
| 8FLA | EM | 263 A | SI | 1-255 | PDB |
| 8FLB | EM | 255 A | SI | 1-255 | PDB |
| 8FLD | EM | 258 A | SI | 1-255 | PDB |
| 8FLE | EM | 248 A | SI | 1-255 | PDB |
| 8INE | EM | 320 A | 3 | 1-255 | PDB |
| 8INF | EM | 300 A | 3 | 1-255 | PDB |
| 8IPX | EM | 430 A | 1 | 1-255 | PDB |
| 8IPY | EM | 320 A | 1 | 1-255 | PDB |
| 8IR3 | EM | 350 A | 3 | 1-255 | PDB |
| AF-Q6DKI1-F1 | Predicted | AlphaFoldDB |
227 variants for Q6DKI1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs756576258 CA3809647 |
2 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA566778771 rs1160311894 |
3 | S>G | No |
ClinGen gnomAD |
|
|
CA3809649 rs780765812 |
3 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809648 rs780765812 |
3 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809650 rs755435206 |
4 | S>C | No |
ClinGen ExAC |
|
|
CA138202428 rs755435206 |
4 | S>G | No |
ClinGen ExAC |
|
|
rs376099875 CA138202448 |
4 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs779236578 CA3809651 |
5 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA566778772 rs1463035055 |
6 | T>S | No |
ClinGen gnomAD |
|
|
CA566778773 rs1329372420 |
7 | T>P | No |
ClinGen gnomAD |
|
|
rs1376490556 CA566778774 |
7 | T>S | No |
ClinGen gnomAD |
|
|
rs772130843 CA3809653 |
8 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1052436423 CA138202458 |
9 | K>N | No |
ClinGen Ensembl |
|
|
CA3809654 rs777718094 |
11 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364138998 rs777718094 |
11 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581653232 CA364139002 |
11 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 13 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472693439 CA364139020 |
13 | Q>R | No |
ClinGen TOPMed |
|
|
rs575325112 CA3809656 |
14 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364139030 rs1196257898 |
14 | E>K | No |
ClinGen gnomAD |
|
|
rs1215845052 CA364139499 |
15 | Q>P | No |
ClinGen gnomAD |
|
|
CA364139500 rs1215845052 |
15 | Q>R | No |
ClinGen gnomAD |
|
|
rs764189613 CA3809688 |
18 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1188397164 CA364139525 |
19 | P>A | No |
ClinGen gnomAD |
|
|
rs1432837021 CA364139533 |
20 | L>S | No |
ClinGen gnomAD |
|
|
rs1174426412 CA364139538 |
21 | V>L | No |
ClinGen gnomAD |
|
|
CA3809689 rs751836177 |
22 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138203221 rs929593975 |
22 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1009497598 CA138203250 |
28 | K>R | No |
ClinGen gnomAD |
|
|
CA364139595 rs1361784303 |
29 | R>G | No |
ClinGen gnomAD |
|
|
rs1433501528 CA364139635 |
31 | A>G | No |
ClinGen gnomAD |
|
|
rs1463859847 CA364139632 |
31 | A>T | No |
ClinGen TOPMed |
|
|
CA364139636 rs1433501528 |
31 | A>V | No |
ClinGen gnomAD |
|
|
CA138203254 CA364139651 rs888342970 |
32 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1291342711 CA364139653 |
33 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1366216165 CA364139656 |
33 | Q>R | No |
ClinGen gnomAD |
|
|
rs1021265662 CA138203258 |
34 | A>S | No |
ClinGen TOPMed |
|
|
rs1386996249 CA364139681 |
35 | L>R | No |
ClinGen gnomAD |
|
|
CA3809690 rs147359090 |
36 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364139690 rs147359090 |
36 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751534485 CA138203267 |
38 | T>I | No |
ClinGen Ensembl |
|
|
rs781256226 CA364139764 |
40 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781256226 CA3809691 |
40 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809692 rs746017852 |
41 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364139806 rs1362809580 |
42 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 43 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756035386 CA3809693 |
43 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3809695 rs780089884 |
44 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3809694 rs780089884 |
44 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3809696 rs768528425 |
45 | L>V | No |
ClinGen ExAC |
|
|
CA364139867 rs773827748 |
46 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA138203306 rs557873667 |
46 | A>P | No |
ClinGen 1000Genomes |
|
|
CA3809697 rs773827748 |
46 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771638910 CA3809699 |
48 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3809698 rs757126662 |
48 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809700 rs772843247 |
49 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs760315570 CA3809701 |
49 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs139475580 CA3809724 |
52 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364140963 rs1329072753 |
53 | G>R | No |
ClinGen gnomAD |
|
|
rs201486705 CA138205074 |
54 | K>E | No |
ClinGen 1000Genomes |
|
|
CA364141021 rs1360012060 |
55 | G>V | No |
ClinGen TOPMed |
|
|
rs898995786 CA138205085 |
57 | R>G | No |
ClinGen TOPMed |
|
|
CA364141044 rs1283351214 |
57 | R>K | No |
ClinGen gnomAD |
|
|
CA364141103 rs1235048977 |
60 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3809727 rs774768542 |
60 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138205092 rs1051550372 |
61 | L>V | No |
ClinGen Ensembl |
|
|
rs41274880 CA3809729 |
62 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364141159 rs1273917912 |
63 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3809731 rs760698808 |
64 | F>L | No |
ClinGen ExAC |
|
|
rs750675802 CA3809730 |
64 | F>L | No |
ClinGen ExAC |
|
|
rs368559463 CA3809733 |
66 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375871884 CA3809732 |
66 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364141206 rs1237256058 |
66 | H>Y | No |
ClinGen gnomAD |
|
|
CA3809734 rs754937108 |
68 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3809735 rs778773742 |
68 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148678082 CA3809736 |
69 | W>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3809738 rs767183272 |
70 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809737 rs758304165 |
70 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141495140 CA3809739 |
73 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364141362 rs1375775806 |
73 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3809740 rs770282712 |
74 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342997949 CA364141375 |
74 | D>H | No |
ClinGen TOPMed |
|
|
rs142190825 CA3809741 |
75 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338547834 CA364141412 |
75 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs745431151 CA3809743 |
77 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745431151 CA3809742 |
77 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774880247 CA3809744 |
77 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1460608925 CA364141513 |
79 | R>K | No |
ClinGen TOPMed |
|
|
CA3809745 rs146721546 |
80 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364141536 rs772450159 |
80 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809746 rs772450159 |
80 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992876541 CA138205178 |
83 | V>L | No |
ClinGen Ensembl |
|
|
CA138205183 rs574281629 |
85 | P>H | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3809749 rs766575068 |
86 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364141675 rs1488234189 |
87 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA364141706 rs1193362905 |
88 | L>S | No |
ClinGen gnomAD |
|
|
CA364141747 rs1476845934 |
90 | L>S | No |
ClinGen gnomAD |
|
|
rs1395489243 CA364141851 |
94 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3809750 rs776758407 |
94 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581657548 CA364141904 |
96 | L>F | No |
ClinGen Ensembl |
|
|
CA3809752 rs371976454 |
97 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752709495 CA3809753 |
99 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364141965 rs1342769153 |
100 | V>L | No |
ClinGen gnomAD |
|
|
CA3809754 rs191520270 |
101 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3809755 rs369318268 |
101 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867618823 CA138205202 |
102 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3809758 rs780761819 |
103 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745355927 CA3809759 |
104 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745355927 CA364142015 |
104 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364142692 rs1183697024 |
107 | G>S | No |
ClinGen gnomAD |
|
|
CA3809778 rs779545995 |
108 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs374234947 CA138205775 |
109 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1164379995 CA364142729 |
110 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA364142767 rs1395236481 |
113 | Q>* | No |
ClinGen gnomAD |
|
|
rs1463215831 CA364142777 |
114 | R>G | No |
ClinGen gnomAD |
|
|
rs1056757372 CA138205780 |
115 | T>I | No |
ClinGen TOPMed |
|
|
rs1581658540 CA364142808 |
116 | I>T | No |
ClinGen Ensembl |
|
|
CA364142805 rs1329515677 |
116 | I>V | No |
ClinGen gnomAD |
|
|
rs201422156 CA3809779 |
117 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3809780 rs199719364 |
120 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3809781 rs778300981 |
120 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809782 rs778300981 |
120 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138205822 rs187563119 |
122 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs187563119 CA3809785 |
122 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364142892 rs1396706695 |
123 | K>N | No |
ClinGen gnomAD |
|
|
rs11558570 CA138205824 |
124 | I>T | No |
ClinGen Ensembl |
|
|
rs769924963 CA3809786 |
126 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809789 rs768686813 |
128 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774191392 CA3809790 |
131 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA364143017 rs1253806264 |
132 | V>F | No |
ClinGen gnomAD |
|
|
rs767230269 CA3809792 |
133 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3809793 rs750026125 |
135 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA138205863 rs941397514 |
135 | Q>H | No |
ClinGen gnomAD |
|
|
rs750026125 CA364143061 |
135 | Q>K | No |
ClinGen ExAC gnomAD |
|
| rs1188486343 | 135 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291684228 CA364143144 |
139 | M>I | No |
ClinGen TOPMed |
|
|
CA3809795 rs146567370 |
139 | M>T | No |
ClinGen ESP ExAC |
|
|
CA138205877 rs887539882 |
139 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753322811 CA3809796 |
141 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs377107940 CA3809797 |
141 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364143168 rs377107940 |
141 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA138205886 rs755413267 |
142 | I>T | No |
ClinGen Ensembl |
|
|
rs1313975097 CA364143172 |
142 | I>V | No |
ClinGen gnomAD |
|
|
rs1356837096 CA364143191 |
143 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778213006 CA3809798 |
145 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA364143268 rs1581658715 |
148 | T>A | No |
ClinGen Ensembl |
|
|
rs140942522 CA3809799 |
148 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372171526 CA3809820 |
151 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3809822 rs749535685 |
153 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809821 rs780379225 |
153 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3809823 rs755042877 |
156 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364143647 rs1174168714 |
157 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748319350 CA3809825 |
158 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771880708 CA3809826 |
158 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364143725 rs1273533575 |
161 | I>M | No |
ClinGen TOPMed |
|
|
CA364143714 rs1345298162 |
161 | I>V | No |
ClinGen gnomAD |
|
|
rs150181635 CA3809827 |
164 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393358517 CA364143826 CA364143828 |
168 | K>N | No |
ClinGen gnomAD |
|
|
CA3809829 rs770735484 |
175 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1223178349 CA364143990 |
175 | P>R | No |
ClinGen gnomAD |
|
|
CA364144031 rs1318630814 |
177 | T>I | No |
ClinGen gnomAD |
|
|
CA364144066 rs1468216519 |
178 | D>E | No |
ClinGen gnomAD |
|
|
rs1271339004 CA364144058 |
178 | D>G | No |
ClinGen gnomAD |
|
|
rs368319057 CA3809832 |
179 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3809834 rs569000174 |
180 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3809835 rs569000174 |
180 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3809837 rs756489549 |
184 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs376499758 CA3809862 |
191 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3809863 rs370025817 |
193 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149005023 CA138206895 |
197 | L>H | No |
ClinGen ESP |
|
|
rs573377311 CA364144979 |
198 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573377311 CA3809865 |
198 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364144992 rs1237667545 |
199 | H>D | No |
ClinGen gnomAD |
|
|
rs777831758 CA3809866 |
199 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17854962 CA138206902 |
200 | E>G | No |
ClinGen Ensembl |
|
|
rs1355752479 CA364145025 |
201 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs757171081 CA3809868 |
202 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3809869 rs781149553 |
202 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs192054853 CA3809870 |
204 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374453299 CA3809871 |
206 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364145102 rs1324690574 |
207 | H>L | No |
ClinGen gnomAD |
|
|
rs748979299 CA3809873 |
208 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA364145154 rs1367593294 |
210 | E>G | No |
ClinGen gnomAD |
|
|
CA3809874 rs377679031 |
211 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773988735 CA3809875 |
212 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771530529 CA3809877 |
213 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1281564818 CA364145205 |
214 | F>L | No |
ClinGen gnomAD |
|
|
CA364145208 rs1445868424 |
214 | F>Y | No |
ClinGen gnomAD |
|
|
rs1249410996 CA364145234 |
216 | C>G | No |
ClinGen TOPMed |
|
|
rs777306121 CA3809878 |
218 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs759767510 CA3809879 |
219 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364145309 rs1395391914 |
221 | S>L | No |
ClinGen gnomAD |
|
|
CA138206954 rs912950267 |
221 | S>T | No |
ClinGen TOPMed |
|
|
CA138206955 rs561827581 |
222 | V>A | No |
ClinGen 1000Genomes |
|
|
CA3809880 rs765644044 |
223 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3809881 rs201862271 |
224 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369621205 CA364145339 |
224 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3809882 rs369621205 |
224 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364145340 rs369621205 |
224 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364145350 rs1319029580 |
225 | H>R | No |
ClinGen gnomAD |
|
|
rs760670367 CA3809883 |
228 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751615019 CA3809884 |
229 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3809886 rs781059579 |
231 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750389497 CA3809887 |
234 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138206976 rs201178717 |
239 | T>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA364145518 rs1205280293 |
239 | T>S | No |
ClinGen gnomAD |
|
|
CA3809889 rs779898947 |
240 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA138206986 rs370265415 |
242 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs764070104 CA138206982 |
242 | Y>H | No |
ClinGen Ensembl |
|
|
rs370265415 CA364145548 |
242 | Y>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs564479434 CA364145559 |
243 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs564479434 CA3809891 |
243 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749099772 CA3809890 |
243 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747619440 CA3809893 |
244 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809894 rs747619440 |
244 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809892 rs778750418 |
244 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364145582 CA3809895 rs777216441 |
245 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143781630 CA3809897 |
246 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143781630 CA3809898 |
246 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372984948 CA3809899 |
246 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364145591 rs372984948 |
246 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3809901 rs751803316 |
248 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs377736942 CA3809903 |
252 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750539100 CA3809904 |
252 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3809905 rs756068684 |
253 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q6DKI1
1 regional properties for Q6DKI1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 82 - 577 | IPR017452 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosolic large ribosomal subunit | The large subunit of a ribosome located in the cytosol. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| structural constituent of ribosome | The action of a molecule that contributes to the structural integrity of the ribosome. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| blastocyst formation | The initial formation of a blastocyst from a solid ball of cells known as a morula. |
| maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and Large Subunit (LSU) in that order from 5' to 3' along the primary transcript. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P05737 | RPL7A | 60S ribosomal protein L7-A | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q58DT1 | RPL7 | 60S ribosomal protein L7 | Bos taurus (Bovine) | PR |
| Q6W5P4 | NPSR1 | Neuropeptide S receptor | Homo sapiens (Human) | PR |
| P18124 | RPL7 | 60S ribosomal protein L7 | Homo sapiens (Human) | PR |
| Q8BZP8 | Npsr1 | Neuropeptide S receptor | Mus musculus (Mouse) | PR |
| P14148 | Rpl7 | 60S ribosomal protein L7 | Mus musculus (Mouse) | PR |
| Q9D8M4 | Rpl7l1 | 60S ribosomal protein L7-like 1 | Mus musculus (Mouse) | PR |
| A5GFQ0 | RPL7L1 | 60S ribosomal protein L7-like 1 | Sus scrofa (Pig) | PR |
| P05426 | Rpl7 | 60S ribosomal protein L7 | Rattus norvegicus (Rat) | PR |
| Q56H79 | NPSR1 | Neuropeptide S receptor | Macaca mulatta (Rhesus macaque) | PR |
| P60039 | RPL7C | 60S ribosomal protein L7-3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MISSCTTRKM | AEQEQRKIPL | VPENLLKKRK | AYQALKATQA | KQALLAKKEQ | KKGKGLRFKR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LESFLHDSWR | QKRDKVRLRR | LEVKPHALEL | PDKHSLAFVV | RIERIDGVSL | LVQRTIARLR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKKIFSGVFV | KVTPQNLKML | RIVEPYVTWG | FPNLKSVREL | ILKRGQAKVK | NKTIPLTDNT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VIEEHLGKFG | VICLEDLIHE | IAFPGKHFQE | ISWFLCPFHL | SVARHATKNR | VGFLKEMGTP |
| 250 | |||||
| GYRGERINQL | IRQLN |