Q7L8L6
PR
Gene name |
FASTKD5 (KIAA1792) |
Protein name |
FAST kinase domain-containing protein 5, mitochondrial |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:60493 |
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
1 structures for Q7L8L6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7L8L6-F1 | Predicted | AlphaFoldDB |
610 variants for Q7L8L6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9740281 rs115821648 |
2 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408086940 rs115821648 |
2 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773068491 CA9740280 |
4 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1600413492 CA408086863 |
10 | L>I | No |
ClinGen Ensembl |
|
|
rs770542010 CA310965487 |
11 | V>G | No |
ClinGen Ensembl |
|
|
CA9740279 rs771691423 |
11 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs761247290 CA9740278 |
14 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9740277 rs201689640 |
14 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749835803 CA9740275 |
15 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1568482297 CA408086801 |
16 | F>L | No |
ClinGen Ensembl |
|
|
rs780517941 CA9740274 |
17 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1002746966 CA310965448 |
18 | S>R | No |
ClinGen TOPMed |
|
|
CA408086766 rs1292225122 |
19 | P>A | No |
ClinGen gnomAD |
|
|
rs1234915501 CA408086752 |
20 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9740273 rs770204260 |
22 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs746224837 CA9740272 |
23 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA408086718 rs1568482283 |
24 | A>E | No |
ClinGen Ensembl |
|
|
CA9740270 rs757442015 |
26 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9740268 rs201827432 |
26 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1190197 CA9740269 rs201827432 |
26 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs758374358 CA9740267 |
27 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs760552756 CA9740264 |
30 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA408086646 rs1170955108 |
31 | W>* | No |
ClinGen TOPMed |
|
|
rs1411623492 CA408086642 |
31 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA408086629 rs767101686 |
32 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs761490417 CA9740261 |
35 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1190700034 CA408086599 |
36 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761317969 CA310965392 |
37 | Q>R | No |
ClinGen Ensembl |
|
|
rs773844266 CA9740260 |
38 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA9740259 rs768262475 |
38 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA408086570 rs1245364476 |
40 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9740257 rs537966853 |
40 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9740256 rs770218352 |
41 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226344287 CA408086527 |
43 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746243059 CA9740255 |
46 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA9740253 rs771085724 |
51 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143020608 CA9740252 |
54 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1327526118 CA408086393 |
55 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 55 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138163389 CA9740251 |
56 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138163389 CA408086372 |
56 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138163389 CA9740250 |
56 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310965314 rs919661639 |
59 | I>M | No |
ClinGen TOPMed |
|
|
rs150800870 CA9740249 |
59 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9740248 rs780156595 |
60 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740247 rs79033323 |
63 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9740245 rs201196114 COSM239817 |
66 | R>Q | oesophagus prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9740246 rs750278791 |
66 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740244 rs756980695 |
67 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs199920576 CA408086233 |
68 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1555764713 CA408086226 |
69 | L>P | No |
ClinGen Ensembl |
|
|
rs1296302014 CA408086215 |
70 | T>I | No |
ClinGen gnomAD |
|
|
rs1486685163 CA408086182 |
73 | S>I | No |
ClinGen gnomAD |
|
|
CA310965248 rs900011789 |
73 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs557602257 CA310965240 |
74 | A>T | No |
ClinGen gnomAD |
|
|
rs374950346 CA9740242 |
75 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201339262 CA310965236 |
75 | H>Y | No |
ClinGen Ensembl |
|
|
rs773953334 CA310965228 |
76 | P>R | No |
ClinGen Ensembl |
|
|
rs1413835106 CA408086057 |
84 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 84 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760983703 CA9740239 |
85 | S>* | No |
ClinGen ExAC |
|
| TCGA novel | 85 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA634329076 rs1305037169 |
86 | S>* | No |
ClinGen gnomAD |
|
|
CA9740238 rs762452807 |
86 | S>A | No |
ClinGen ExAC |
|
|
CA9740237 rs774921489 |
87 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740236 rs369980933 |
87 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408086006 rs1294865942 |
89 | S>N | No |
ClinGen gnomAD |
|
|
rs1294865942 CA408086008 |
89 | S>T | No |
ClinGen gnomAD |
|
|
rs1384310625 CA408085992 |
90 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1384310625 CA408085995 |
90 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408085979 rs540055875 |
91 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA743480600 rs1381339492 |
91 | L>L* | No |
ClinGen TOPMed |
|
|
rs115238082 CA9740233 |
91 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9740231 rs76392282 |
92 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1041370162 CA310965153 |
94 | G>V | No |
ClinGen gnomAD |
|
|
rs867358582 CA310965151 |
95 | S>* | No |
ClinGen Ensembl |
|
|
rs1430106485 CA408085929 |
96 | P>L | No |
ClinGen gnomAD |
|
|
rs199708716 CA9740227 |
96 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143277441 CA9740225 |
97 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9740224 rs757143824 |
99 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1210949693 CA408085894 |
100 | G>A | No |
ClinGen TOPMed |
|
|
rs141315308 CA9740223 |
101 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138335304 CA9740222 |
103 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408085835 rs1211359592 |
105 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473484815 CA408085825 |
106 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408085807 rs1568482114 |
107 | E>D | No |
ClinGen Ensembl |
|
|
rs1294980751 CA408085811 |
107 | E>V | No |
ClinGen gnomAD |
|
|
rs1179473992 CA408085802 |
108 | V>L | No |
ClinGen TOPMed |
|
|
CA408085762 rs1326622332 |
111 | S>Y | No |
ClinGen gnomAD |
|
|
CA9740219 rs764762315 |
114 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740218 rs759020619 |
115 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1472742324 CA408085702 |
115 | M>V | No |
ClinGen TOPMed |
|
|
rs140510914 CA9740217 |
116 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1025769 rs766789581 CA9740216 |
116 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA408085640 rs1568482091 |
117 | V>G | No |
ClinGen Ensembl |
|
|
CA408085605 rs1384732475 |
119 | L>P | No |
ClinGen Ensembl |
|
|
CA310965091 rs367903172 |
121 | L>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs367903172 CA310965086 |
121 | L>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9740213 rs772455329 |
123 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs529020279 CA310965084 |
124 | E>D | No |
ClinGen 1000Genomes |
|
|
CA9740212 rs145844013 |
126 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9740211 rs568117358 |
126 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749327710 CA9740209 |
128 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9740207 rs2180657 |
130 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9740206 rs528088858 |
131 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374957332 CA9740205 |
132 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408085381 rs1344684716 |
132 | A>V | No |
ClinGen TOPMed |
|
|
rs758154400 CA9740204 |
133 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1220236980 CA408085287 |
138 | L>P | No |
ClinGen TOPMed |
|
|
rs371717914 CA9740200 |
141 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371717914 CA408085253 |
141 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9740199 rs766933485 |
142 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA408085244 rs1250361610 |
142 | S>P | No |
ClinGen TOPMed |
|
|
rs1183446697 CA408085224 |
143 | E>D | No |
ClinGen TOPMed |
|
|
rs1483112641 CA408085230 |
143 | E>G | No |
ClinGen TOPMed |
|
|
rs1375581180 CA408085215 |
144 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 148 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373840545 CA408085149 |
150 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758482387 CA9740198 |
151 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564432413 CA9740197 |
154 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768043342 CA9740196 |
155 | Q>K | No |
ClinGen ExAC |
|
|
rs1411757293 CA408085083 |
156 | N>Y | No |
ClinGen TOPMed |
|
|
CA9740194 rs774784083 |
157 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA408085040 rs1321817388 |
159 | Q>* | No |
ClinGen TOPMed |
|
|
CA9740192 rs149862009 |
159 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408085022 rs1422430150 |
160 | A>V | No |
ClinGen gnomAD |
|
|
CA408085019 rs1366889976 |
161 | Q>E | No |
ClinGen gnomAD |
|
|
rs151099487 CA9740190 |
163 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1266267981 CA408084974 |
165 | D>N | No |
ClinGen gnomAD |
|
|
rs1207646422 CA408084956 |
166 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 169 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408084895 rs1568481985 |
171 | S>N | No |
ClinGen Ensembl |
|
|
rs1228156851 CA408084877 |
173 | L>V | No |
ClinGen gnomAD |
|
|
rs147589614 CA9740185 |
178 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1370060130 CA408084816 |
178 | H>Y | No |
ClinGen Ensembl |
|
|
rs1330547579 CA408084800 |
179 | P>R | No |
ClinGen gnomAD |
|
|
CA9740184 rs754540514 |
180 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408084764 rs1199162838 |
183 | G>D | No |
ClinGen TOPMed |
|
|
rs1450734417 CA408084767 |
183 | G>R | No |
ClinGen TOPMed |
|
|
rs563356941 CA9740183 |
184 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9740182 rs375942300 |
185 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390773829 CA408084662 |
192 | Q>* | No |
ClinGen TOPMed |
|
|
rs1008429789 CA310964938 |
194 | S>N | No |
ClinGen Ensembl |
|
|
CA9740179 rs768137428 |
198 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1405711867 CA408084585 |
199 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA408084582 rs1405711867 |
199 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9740178 rs541576078 |
200 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408084529 rs1489939200 |
204 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA310964915 rs573803825 |
207 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1390258400 CA408084507 |
207 | I>M | No |
ClinGen TOPMed |
|
|
CA9740177 rs573803825 |
207 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9740175 rs371675372 |
208 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371675372 CA9740176 |
208 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765277451 CA9740173 |
214 | V>D | No |
ClinGen ExAC |
|
|
rs1349822356 CA408084373 |
219 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1349822356 CA408084374 |
219 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1344888085 CA408084363 |
220 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1368050231 CA408084361 |
220 | H>Q | No |
ClinGen TOPMed |
|
|
rs1344888085 CA408084365 |
220 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9740171 rs773198969 |
220 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9740170 rs771929207 |
221 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs144604664 CA9740169 |
224 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774094180 CA9740168 |
225 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9740167 rs768468801 |
226 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9740166 rs149331155 |
227 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9740164 rs139561064 |
228 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 229 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9740163 rs745315823 |
230 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9740162 rs781768771 |
234 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781768771 CA408084199 |
234 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408084159 rs1282473470 |
237 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9740160 rs368165146 |
237 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1474210726 CA408084162 |
237 | W>S | No |
ClinGen gnomAD |
|
| TCGA novel | 238 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764402613 CA9740159 |
240 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1012113845 CA310964784 |
241 | M>V | No |
ClinGen TOPMed |
|
|
rs1430285924 CA408084108 |
242 | D>E | No |
ClinGen TOPMed |
|
|
rs114807917 COSM1025766 CA9740156 |
243 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA408084101 rs1442408955 |
243 | Q>R | No |
ClinGen gnomAD |
|
|
rs1213122809 CA408084091 |
245 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1600411532 CA408084036 |
253 | Y>D | No |
ClinGen Ensembl |
|
|
rs1226525071 CA408084029 |
254 | L>V | No |
ClinGen gnomAD |
|
|
rs3746700 VAR_053891 CA9740152 |
256 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9740151 rs774251244 |
256 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408084014 rs774251244 |
256 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA408084010 rs1457038370 |
257 | K>R | No |
ClinGen TOPMed |
|
|
CA310964697 rs6084275 |
259 | P>L | No |
ClinGen Ensembl |
|
|
CA408083999 rs1321704398 |
259 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1035069858 CA310964692 |
263 | N>H | No |
ClinGen TOPMed |
|
|
rs755994940 CA408083966 |
263 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1436077092 | 266 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408083943 rs1375467661 |
267 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 268 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408083933 rs1167383862 |
268 | Y>C | No |
ClinGen gnomAD |
|
|
CA408083912 rs1600411362 |
271 | L>* | No |
ClinGen Ensembl |
|
|
CA9740146 rs745395419 |
272 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs769433514 CA9740147 |
272 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1533028 CA408083886 rs780806586 |
274 | K>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA310964668 rs952705493 |
274 | K>Q | No |
ClinGen gnomAD |
|
|
CA9740143 rs747564436 CA9740144 |
275 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339317701 CA408083884 |
275 | D>H | No |
ClinGen TOPMed |
|
|
CA9740142 rs778326446 |
276 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9740141 rs536016696 |
277 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408083858 rs1326690267 |
279 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408083844 rs1333829782 |
282 | V>I | No |
ClinGen gnomAD |
|
|
CA408083834 rs1291386030 |
283 | H>R | No |
ClinGen gnomAD |
|
|
CA310964608 rs202243319 |
284 | L>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9740139 rs765389805 |
284 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs202243319 CA9740138 |
284 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754030675 CA9740137 |
287 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2422857 VAR_053892 CA9740136 |
288 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1600411182 CA408083806 |
288 | I>V | No |
ClinGen Ensembl |
|
|
COSM1025764 CA9740135 rs760731320 |
292 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA408083775 rs1170664207 |
292 | R>H | No |
ClinGen gnomAD |
|
|
rs1455858340 CA408083741 |
297 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs6084274 CA9740132 |
298 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs6084274 CA310964579 |
298 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9740130 rs769364933 |
299 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs551861435 CA9740131 |
299 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408083725 rs1411851930 |
300 | Q>* | No |
ClinGen gnomAD |
|
|
rs1175566485 CA408083716 |
301 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1481619853 CA408083699 |
303 | E>V | No |
ClinGen gnomAD |
|
|
rs759300825 CA9740129 |
304 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA408083694 rs1176164721 |
304 | S>T | No |
ClinGen gnomAD |
|
|
CA9740127 rs141945805 |
305 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1271112110 CA408083677 |
307 | L>V | No |
ClinGen gnomAD |
|
|
rs1479544419 CA408083660 |
309 | Y>C | No |
ClinGen gnomAD |
|
|
rs375963955 CA9740124 |
310 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9740125 rs115932715 |
310 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408083647 rs1374819213 |
311 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200477217 CA9740121 |
314 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9740120 rs201594632 |
316 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408083590 rs1403629283 |
319 | G>A | No |
ClinGen TOPMed |
|
|
CA310964439 rs892772677 |
321 | I>T | No |
ClinGen TOPMed |
|
|
rs1314223984 CA408083581 |
321 | I>V | No |
ClinGen TOPMed |
|
|
rs750463487 CA9740117 |
331 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288589039 CA408083491 |
334 | E>Q | No |
ClinGen TOPMed |
|
|
rs943557879 CA310964407 |
337 | M>I | No |
ClinGen TOPMed |
|
|
rs763962639 CA9740116 |
337 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs763962639 CA408083469 |
337 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs752542712 CA9740114 |
338 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762910834 CA9740115 |
338 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050852562 CA310964393 |
340 | I>T | No |
ClinGen TOPMed |
|
|
rs1212966284 CA408083446 |
341 | G>R | No |
ClinGen TOPMed |
|
|
rs765170032 CA408083433 |
342 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1260099717 CA408083420 |
344 | A>D | No |
ClinGen gnomAD |
|
|
rs1482773048 CA408083416 |
345 | C>Y | No |
ClinGen TOPMed |
|
|
CA408083407 rs1213619921 |
346 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs776490031 CA9740111 |
347 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA310964335 rs906956103 |
348 | I>M | No |
ClinGen gnomAD |
|
|
rs114872699 CA9740110 |
348 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs940496649 CA310964329 |
352 | S>N | No |
ClinGen Ensembl |
|
|
rs772727204 CA9740108 |
354 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs772486694 CA9740107 |
354 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772486694 CA408083354 |
354 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779277020 CA9740105 |
357 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs748740099 CA9740106 |
357 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9740104 rs769075640 |
358 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs780272395 CA9740102 |
359 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740103 rs374533315 |
359 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756284598 CA9740101 |
360 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs750502226 CA9740100 |
361 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9740098 rs370373822 |
363 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1721920 CA9740097 rs757258714 |
364 | R>C | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs541661773 CA9740096 |
364 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA310964253 rs377573955 |
366 | T>A | No |
ClinGen ESP TOPMed |
|
|
CA9740093 rs149209962 |
368 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766151183 CA9740091 |
372 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA408083239 rs1236318990 |
372 | N>S | No |
ClinGen TOPMed |
|
|
CA9740090 rs760333265 CA408083230 |
373 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs3746699 CA9740088 |
377 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9740086 rs774843885 |
377 | I>T | No |
ClinGen ExAC TOPMed |
|
|
rs3746699 CA9740087 VAR_053893 |
377 | I>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA408083191 rs1206049231 |
379 | E>G | No |
ClinGen TOPMed |
|
|
CA310964164 rs762512461 |
380 | I>L | No |
ClinGen Ensembl |
|
|
CA9740084 rs41304800 |
380 | I>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9740082 rs377670774 |
381 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310964154 rs747401683 |
382 | P>S | No |
ClinGen TOPMed |
|
|
rs746148322 CA9740081 |
384 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs757421432 CA9740079 |
384 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757421432 CA9740080 |
384 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408083098 rs1461735240 |
386 | P>S | No |
ClinGen gnomAD |
|
|
CA408083065 rs1390165349 |
387 | S>C | No |
ClinGen TOPMed |
|
|
CA9740078 rs746991475 |
391 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs879073424 CA310964112 |
392 | G>D | No |
ClinGen Ensembl |
|
|
CA9740076 rs754914937 |
394 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1262376292 CA408082876 |
397 | T>I | No |
ClinGen gnomAD |
|
|
rs753715819 CA9740075 |
398 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9740074 rs773810944 |
399 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484637202 CA408082854 |
399 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs755849796 CA9740073 |
400 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9740072 COSM443641 rs767011584 |
401 | S>L | Variant assessed as Somatic; 4.621e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767011584 CA9740071 |
401 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408082800 rs1230114459 |
402 | A>T | No |
ClinGen gnomAD |
|
|
CA9740068 rs764621503 |
402 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740067 rs546132650 |
403 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147076248 CA9740065 |
404 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770248376 CA9740064 |
404 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770248376 CA310963995 |
404 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740062 rs776912267 |
406 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1215219789 CA408082678 |
408 | E>G | No |
ClinGen TOPMed |
|
|
rs373385100 CA408082664 |
409 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373385100 CA9740061 |
409 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300070117 CA408082640 |
411 | M>L | No |
ClinGen gnomAD |
|
|
CA9740060 rs747106787 |
413 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs557679237 CA310963941 |
413 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1424133392 CA408082598 |
414 | V>L | No |
ClinGen gnomAD |
|
|
CA9740059 rs536082605 |
415 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs575070417 CA9740058 |
416 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1436682904 CA408082548 |
418 | L>F | No |
ClinGen gnomAD |
|
|
rs780137995 CA408082543 |
419 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740056 rs780137995 |
419 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408082537 rs1450691301 |
420 | P>L | No |
ClinGen TOPMed |
|
|
rs755941835 CA9740055 |
420 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188822399 CA408082529 |
422 | V>M | No |
ClinGen TOPMed |
|
|
rs200365167 CA9740054 |
423 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772726420 COSM253719 CA310963880 |
426 | R>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9740053 rs780923980 COSM1025760 |
426 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756823425 CA9740052 |
430 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9740050 rs763646087 |
435 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA408082429 rs1420945279 |
437 | F>L | No |
ClinGen TOPMed |
|
|
rs370208800 CA310963856 |
440 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753267234 CA9740048 |
441 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740047 rs765592823 |
442 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408082382 rs1325040070 |
444 | P>S | No |
ClinGen gnomAD |
|
|
CA408082376 rs771215227 |
445 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740044 rs771215227 |
445 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740045 rs779103779 |
445 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779103779 CA408082378 |
445 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740043 rs374926321 |
446 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9740042 rs116703534 |
447 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1361605122 CA408082340 |
450 | F>L | No |
ClinGen gnomAD |
|
|
CA9740040 rs115386226 |
453 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408082311 rs1212213931 |
455 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 457 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921842155 CA310963791 |
457 | E>G | No |
ClinGen Ensembl |
|
|
rs1274372321 CA408082275 |
460 | R>G | No |
ClinGen gnomAD |
|
|
rs1600409800 CA408082273 |
460 | R>K | No |
ClinGen Ensembl |
|
|
CA408082269 rs1205108974 |
460 | R>S | No |
ClinGen gnomAD |
|
|
CA9740039 CA408082254 rs780054379 |
462 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA310963769 rs1039003966 |
464 | E>D | No |
ClinGen Ensembl |
|
|
CA310963761 rs369103050 |
465 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374979965 CA9740038 |
467 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9740037 rs374979965 |
467 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408082196 rs1271368844 |
471 | H>N | No |
ClinGen gnomAD |
|
|
rs780894664 CA408082173 |
474 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs780894664 CA9740036 |
474 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs751273447 CA9740034 |
476 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751273447 CA408082164 |
476 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408082150 rs1372976640 |
478 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752140912 CA9740031 |
483 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA408082122 rs1408757651 |
483 | E>Q | No |
ClinGen gnomAD |
|
|
CA9740029 rs759919568 |
485 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1191304607 CA408082101 |
486 | P>T | No |
ClinGen gnomAD |
|
|
rs1455286022 CA408082094 |
487 | V>L | No |
ClinGen gnomAD |
|
|
rs766702025 CA9740027 |
490 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA9740026 rs200068528 |
492 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1445831679 CA408082060 |
492 | F>I | No |
ClinGen gnomAD |
|
|
rs200068528 CA408082057 |
492 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9740024 rs375315997 |
493 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375315997 CA408082053 |
493 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145181106 CA408082047 |
494 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774258980 CA9740022 |
494 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs145181106 CA9740023 |
494 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555764418 CA408082037 |
495 | S>R | No |
ClinGen Ensembl |
|
|
rs139011717 CA9740020 |
496 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768753034 CA9740021 |
496 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 497 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA310963695 rs781180016 |
497 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740019 rs781180016 |
497 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408082024 rs1320156835 |
498 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9740018 rs770776460 |
500 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310963688 rs770776460 |
500 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777413936 CA408081999 |
502 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746735660 CA9740017 |
502 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777413936 CA9740016 |
502 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs6107247 CA9740015 |
503 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747723817 CA9740014 |
507 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs778324267 CA9740013 |
511 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310963638 rs950795185 |
513 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 516 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408081871 rs1313015563 |
518 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754360558 CA310963620 |
518 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740011 rs754360558 COSM577159 |
518 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1272480943 CA408081852 |
520 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1272480943 CA408081851 |
520 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766843458 CA310963614 |
523 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766843458 CA9740010 |
523 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755825476 CA9740008 |
525 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA408081788 rs755825476 |
525 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1354737272 CA408081773 |
526 | P>R | No |
ClinGen gnomAD |
|
|
CA408081746 rs1422947326 |
528 | Y>C | No |
ClinGen TOPMed |
|
|
CA9740006 rs762169772 |
528 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA408081737 rs1327710804 |
529 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9740003 rs763086762 |
529 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs368858407 CA9740004 |
529 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1377295153 CA408081720 |
530 | G>D | No |
ClinGen TOPMed |
|
|
rs750241345 CA9740002 |
530 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9740001 rs770792915 |
531 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200293310 CA9740000 |
532 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781016406 COSM1025758 CA9739999 |
532 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA310963565 rs1018246902 |
535 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747802573 CA9739997 |
536 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA408081652 rs747802573 |
536 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 539 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199022079 CA408081601 |
540 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1334087098 CA408081574 |
542 | S>P | No |
ClinGen gnomAD |
|
|
CA9739994 rs374630023 |
545 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs957593178 CA310963541 |
546 | W>R | No |
ClinGen Ensembl |
|
|
rs1229560143 CA408081508 |
547 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408081502 rs1202491708 |
547 | Y>F | No |
ClinGen TOPMed |
|
|
CA408081496 rs1555764388 |
548 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 553 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355910403 CA408081379 |
555 | S>P | No |
ClinGen gnomAD |
|
|
CA408081332 rs1461194948 |
558 | E>Q | No |
ClinGen gnomAD |
|
|
CA408081303 COSM1025757 rs1392961802 |
559 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs373583413 CA9739990 |
561 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1001745869 CA310963535 |
563 | V>L | No |
ClinGen Ensembl |
|
|
CA9739988 rs768045467 |
564 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs768045467 CA9739987 |
564 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA408081201 rs1238957305 |
568 | T>I | No |
ClinGen gnomAD |
|
|
rs1238957305 CA408081203 |
568 | T>N | No |
ClinGen gnomAD |
|
|
rs1199042353 CA408081188 |
570 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1223731675 CA408081181 |
571 | G>E | No |
ClinGen gnomAD |
|
|
rs1271016744 CA408081184 |
571 | G>W | No |
ClinGen gnomAD |
|
|
CA9739985 rs751799938 |
572 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1283015751 CA408081176 |
572 | G>V | No |
ClinGen gnomAD |
|
|
COSM3389675 rs1396887186 CA9739981 |
573 | P>A | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA408081168 rs1427868976 |
574 | Q>* | No |
ClinGen TOPMed |
|
|
rs879730521 CA310963413 |
574 | Q>R | No |
ClinGen Ensembl |
|
|
CA310963393 rs1023940160 |
576 | V>D | No |
ClinGen Ensembl |
|
|
CA9739978 rs145379013 |
576 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310963387 rs754134485 |
578 | H>Y | No |
ClinGen Ensembl |
|
|
CA9739976 rs142069372 |
579 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs886170288 CA310963380 |
584 | H>Q | No |
ClinGen Ensembl |
|
|
rs1328302548 CA408081088 |
585 | T>I | No |
ClinGen gnomAD |
|
|
rs771912842 CA9739975 |
586 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747969683 CA9739974 |
586 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1157026683 CA408081062 |
590 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1363690962 CA408081049 |
592 | V>I | No |
ClinGen TOPMed |
|
|
CA408079770 rs1402453396 |
593 | Q>R | No |
ClinGen gnomAD |
|
|
rs1225514337 CA408079760 |
594 | L>R | No |
ClinGen TOPMed |
|
|
rs773889172 CA9739973 |
595 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA408079743 rs1193296040 |
597 | N>T | No |
ClinGen gnomAD |
|
|
CA408079724 rs1568481100 |
600 | P>A | No |
ClinGen Ensembl |
|
|
rs768305527 CA408079710 |
602 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs748782019 CA9739971 |
602 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739972 rs768305527 |
602 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs777941979 CA310963361 |
605 | R>T | No |
ClinGen Ensembl |
|
|
rs779753129 CA9739970 |
606 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408079678 rs1355169667 |
607 | A>T | No |
ClinGen gnomAD |
|
|
CA310963330 rs900342674 |
607 | A>V | No |
ClinGen Ensembl |
|
|
rs746438196 CA9739968 |
608 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739966 rs146030687 |
609 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408079651 rs1387646818 |
611 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 612 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739964 rs777877253 |
613 | V>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 617 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408079610 rs1310059968 |
617 | R>S | No |
ClinGen gnomAD |
|
|
CA408079604 rs1173086338 |
618 | L>P | No |
ClinGen gnomAD |
|
|
rs1361294381 CA408079607 |
618 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 620 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752882767 CA9739962 |
620 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752882767 CA408079591 |
620 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202238544 CA9739959 |
622 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs370766311 CA9739960 |
622 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767375754 CA9739958 |
623 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 624 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739957 rs761535928 |
624 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs377640278 CA310963282 |
625 | L>F | No |
ClinGen ESP |
|
|
CA9739956 rs774156371 |
626 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1568481036 CA408079555 |
627 | D>N | No |
ClinGen Ensembl |
|
|
rs1555764339 CA408079528 |
630 | M>T | No |
ClinGen Ensembl |
|
|
rs1263352028 CA408079507 CA408079505 |
631 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408079461 rs1484492045 |
635 | K>Q | No |
ClinGen gnomAD |
|
|
rs1257323043 CA408079426 |
637 | K>R | No |
ClinGen gnomAD |
|
|
CA408079408 rs1373654441 |
638 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 639 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234458429 CA408079359 |
641 | H>R | No |
ClinGen gnomAD |
|
|
CA9739954 rs373759979 |
642 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA310963265 rs373759979 |
642 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9739953 rs775270826 COSM1025756 |
644 | G>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1341668364 CA408079285 |
645 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1328399673 CA408079244 |
647 | E>G | No |
ClinGen TOPMed |
|
|
CA408079202 rs1312369466 |
649 | E>Q | No |
ClinGen gnomAD |
|
|
rs781767042 CA9739950 |
652 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771415498 CA9739949 |
653 | Q>* | No |
ClinGen ExAC |
|
|
CA408079108 rs1461656290 |
653 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408079072 rs1372324938 |
655 | M>V | No |
ClinGen gnomAD |
|
|
rs778236761 CA9739947 |
656 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs747361719 CA9739948 |
656 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs752972812 CA9739945 |
658 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326441727 CA408079011 |
658 | E>K | No |
ClinGen TOPMed |
|
|
rs369758244 CA9739944 |
660 | K>R | Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755054143 CA9739943 |
661 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1200724094 CA408078906 |
662 | A>V | No |
ClinGen gnomAD |
|
|
rs763501228 CA310963194 |
664 | P>L | No |
ClinGen Ensembl |
|
|
rs751567143 CA9739941 |
664 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408078884 rs751567143 |
664 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739940 rs761852067 |
666 | G>R | No |
ClinGen ExAC gnomAD |
|
| rs1233549844 | 667 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1233549844 | 668 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303755497 CA408078774 |
670 | C>Y | No |
ClinGen Ensembl |
|
|
rs142515804 CA9739938 |
672 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9739936 rs775291134 |
673 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA408078702 rs1463382643 |
674 | D>H | No |
ClinGen TOPMed |
|
|
CA9739935 rs759136431 |
677 | G>A | No |
ClinGen ExAC TOPMed |
|
|
rs1182447202 CA408078660 COSM1196078 |
677 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA9739934 rs759136431 |
677 | G>V | No |
ClinGen ExAC TOPMed |
|
|
rs776236377 CA9739933 |
678 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739932 rs770313322 |
678 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408078631 rs1391102082 |
679 | M>R | No |
ClinGen gnomAD |
|
|
rs1475628706 CA408078641 |
679 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 680 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739929 rs772553291 |
681 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs773576523 CA9739930 |
681 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs377511660 CA9739928 |
685 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779120707 CA9739927 |
686 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9739923 rs371032615 |
687 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9739924 rs371032615 |
687 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408078515 rs1383395146 |
688 | A>G | No |
ClinGen TOPMed |
|
|
rs1291182517 CA408078523 |
688 | A>P | No |
ClinGen gnomAD |
|
|
rs1187625114 CA408078500 |
689 | C>* | No |
ClinGen gnomAD |
|
|
rs1331570689 CA408078484 |
690 | M>I | No |
ClinGen TOPMed |
|
|
rs1418162981 CA408078488 |
690 | M>T | No |
ClinGen gnomAD |
|
|
CA408078470 rs1600408018 |
691 | Q>R | No |
ClinGen Ensembl |
|
|
rs751584976 CA9739921 |
692 | T>A | No |
ClinGen ExAC |
|
|
rs954906918 CA310963070 |
692 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408078450 rs1180936488 |
693 | P>A | No |
ClinGen gnomAD |
|
|
rs1458459747 CA408078444 |
693 | P>R | No |
ClinGen gnomAD |
|
|
rs140280632 CA9739918 |
694 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408078396 rs1359067532 |
696 | K>N | No |
ClinGen gnomAD |
|
|
rs115243127 CA9739917 |
698 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9739916 rs374794600 |
699 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764970412 CA310963052 |
700 | Q>E | No |
ClinGen Ensembl |
|
|
rs776122804 CA9739915 |
700 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9739914 rs146331272 |
702 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408078328 rs1448746094 |
702 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408078308 rs1352808614 |
703 | N>K | No |
ClinGen TOPMed |
|
|
CA408078302 rs1198680911 |
704 | R>T | No |
ClinGen TOPMed |
|
|
CA408078273 rs1486041429 |
706 | Q>* | No |
ClinGen TOPMed |
|
|
rs773773137 CA9739912 |
706 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1025754 CA408078255 rs369345081 |
707 | Y>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
CA310963008 rs369345081 |
707 | Y>F | No |
ClinGen ESP gnomAD |
|
|
rs371571439 CA9739910 |
707 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9739908 rs576903987 |
709 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9739907 rs749572923 |
710 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9739905 rs73573808 |
713 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73573808 CA9739906 |
713 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745882060 CA9739904 |
715 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1268583959 CA408078188 |
715 | L>P | No |
ClinGen gnomAD |
|
|
CA408078169 rs375423888 |
718 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413818658 CA408078172 |
718 | H>R | No |
ClinGen gnomAD |
|
|
rs777792270 CA9739903 |
718 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408078160 rs1434866455 |
720 | M>V | No |
ClinGen TOPMed |
|
|
CA408078143 rs1314331015 |
722 | R>G | No |
ClinGen TOPMed |
|
|
rs752646460 CA9739901 |
723 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1347412310 CA408078135 |
723 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs765169788 CA9739900 |
724 | Q>R | No |
ClinGen ExAC |
|
|
rs950447700 CA310962906 |
726 | A>V | No |
ClinGen Ensembl |
|
|
rs753590808 CA408078113 |
727 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753590808 CA9739898 |
727 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114422732 CA9739899 |
727 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9739896 rs749852810 |
728 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9739895 rs749852810 |
728 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1159931714 CA408078106 |
729 | G>C | No |
ClinGen gnomAD |
|
|
rs766983390 CA9739894 |
730 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1713103 CA9739893 rs762357013 |
731 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9739892 rs774827406 |
731 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769077588 CA9739891 |
733 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1193159635 CA408078080 |
734 | E>K | No |
ClinGen gnomAD |
|
|
rs773686335 CA310962835 |
735 | L>S | No |
ClinGen gnomAD |
|
|
rs769863884 CA9739888 |
736 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs775799063 CA9739889 |
736 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1272726938 CA408078059 |
737 | Y>C | No |
ClinGen TOPMed |
|
|
CA408078060 rs1346917886 |
737 | Y>H | No |
ClinGen gnomAD |
|
|
CA408078032 rs1480403303 |
739 | E>G | No |
ClinGen TOPMed |
|
|
rs1338312272 CA408077988 |
742 | P>L | No |
ClinGen gnomAD |
|
|
rs150186586 CA9739885 |
742 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1374510710 CA408077953 |
745 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs536166513 CA9739882 |
746 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 746 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9739881 rs754823337 |
746 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9739880 rs141842733 |
747 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368561803 CA9739879 |
748 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM178581 rs376790179 CA9739877 |
748 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376790179 CA9739878 |
748 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408077892 rs376790179 |
748 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408077818 rs1302580594 |
751 | K>N | No |
ClinGen TOPMed |
|
|
CA408077838 rs1438517732 |
751 | K>Q | No |
ClinGen TOPMed |
|
|
CA9739876 rs547200037 |
753 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1008758531 CA310962782 |
755 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs890373506 CA310962781 |
756 | H>L | No |
ClinGen Ensembl |
|
|
rs1042359447 CA310962780 |
757 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9739874 rs148156105 |
758 | K>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs147125058 CA9739872 |
759 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9739869 rs759722637 |
763 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs770160324 CA9739870 |
763 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9739868 rs141748058 |
765 | L>C | No |
ClinGen ESP ExAC gnomAD |
No associated diseases with Q7L8L6
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrial nucleoid | The region of a mitochondrion to which the DNA is confined. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| ribonucleoprotein granule | A non-membranous macromolecular complex containing proteins and translationally silenced mRNAs. RNA granules contain proteins that control the localization, stability, and translation of their RNA cargo. Different types of RNA granules (RGs) exist, depending on the cell type and cellular conditions. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| rRNA binding | Binding to a ribosomal RNA. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| mitochondrial RNA processing | The conversion of a primary RNA molecule transcribed from a mitochondrial genome into one or more mature RNA molecules; occurs in the mitochondrion. |
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| regulation of mitochondrial mRNA stability | Any process that modulates the propensity of mitochondrial mRNA molecules to degradation. Includes processes that both stabilize and destabilize mitochondrial mRNAs. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7TMV3 | Fastkd5 | FAST kinase domain-containing protein 5, mitochondrial | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAATLKSLKL | VRYRAFCSPS | AFGAVRSVSY | WNVSSTQHGG | QDPPEHISLC | HSAKKVKNIC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| STFSSRRILT | TSSAHPGLEF | SKTSSSKAST | LQLGSPRATG | VDEEDVEVFD | SFENMRVFLQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRPEYRVHSY | NASETSQLLS | VSEGELILHK | VRVNQNNLQA | QVIVDYLCKL | SSLPAEQHPV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLGSTSFALL | CQLSVKKIQL | FDTQDLINVL | KAFVILGIPH | SHSMLDVYET | KCCHQVWEMN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MDQLLLVADL | WRYLGRKVPR | FLNIFSSYLN | LHWKDLSLSQ | LVHLIYVIGE | NRQVSQDLMQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KLESLILKYI | DLINLEEVGT | ICLGFFKSST | NLSEFVMRKI | GDLACANIQH | LSSRSLVNIV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KMFRFTHVDH | INFMKQIGEI | APQRIPSLGV | QGVMHLTLYC | SALRFLNEGV | MNAVAASLPP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RVAHCRSKDV | AKILWSFGTL | NYKPPNAEEF | YSSLISEIHR | KMPEFNQYPE | HLPTCLLGLA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FLEYFPVELI | DFALSPGFVR | LAQERTKFDL | LKELYTLDGT | VGIECPDYRG | NRLSTHLQQE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GSELLWYLAE | KDMNSKPEFL | ETVFLLETML | GGPQYVKHHM | ILPHTRSSDL | EVQLDVNLKP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LPFNREATPA | ENVAKLRLEH | VGVSLTDDLM | NKLLKGKARG | HFQGKTESEP | GQQPMELENK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AAVPLGGFLC | NVADKSGAME | MAGLCPAACM | QTPRMKLAVQ | FTNRNQYCYG | SRDLLGLHNM |
| 730 | 740 | 750 | 760 | ||
| KRRQLARLGY | RVVELSYWEW | LPLLKRTRLE | KLAFLHEKVF | TSAL |