Q9NY61
PR
Gene name |
AATF (CHE1, DED, HSPC277) |
Protein name |
Protein AATF |
Names |
Apoptosis-antagonizing transcription factor, Rb-binding protein Che-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26574 |
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
4 structures for Q9NY61
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5W6A | X-ray | 174 A | E/F | 539-547 | PDB |
| 7MQ8 | EM | 360 A | NN | 1-560 | PDB |
| 7MQ9 | EM | 387 A | NN | 1-560 | PDB |
| AF-Q9NY61-F1 | Predicted | AlphaFoldDB |
495 variants for Q9NY61
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA8513909 rs752205542 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA290155412 rs923794839 |
3 | G>A | No |
ClinGen gnomAD |
|
|
rs1335306929 CA399178981 |
4 | P>L | No |
gnomAD ClinGen |
|
|
CA290155438 rs893715982 |
6 | P>L | No |
gnomAD ClinGen |
|
|
CA8513915 rs369810199 |
7 | L>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8513916 rs746104253 |
8 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA8513917 rs199991219 |
9 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1202454489 CA399179014 |
10 | Q>R | No |
gnomAD ClinGen |
|
|
CA399179024 rs1186365743 |
12 | E>Q | No |
gnomAD ClinGen |
|
|
rs1476264393 CA399179032 |
13 | Q>E | No |
ClinGen gnomAD |
|
|
CA8513921 rs773184571 |
13 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA8513922 rs760414667 |
15 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA399179061 rs1427698475 |
17 | P>S | No |
ClinGen gnomAD |
|
|
CA399179065 rs1314896570 |
18 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA8513923 rs556101690 |
18 | R>Q | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA399179076 rs906223134 |
20 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA290155510 rs906223134 |
20 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
CA399179077 rs1310829778 |
20 | S>N | No |
gnomAD ClinGen |
|
|
CA8513924 rs753366095 |
21 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8513926 rs764863894 |
24 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8513931 rs575987752 |
30 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1177617456 CA399179151 |
31 | A>T | No |
ClinGen TOPMed |
|
|
rs1367557904 CA399179175 |
33 | A>T | No |
ClinGen gnomAD |
|
|
rs576342896 CA8513952 |
35 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 36 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780276029 CA8513954 |
37 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA399179215 rs1267116459 |
39 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8513956 rs749126565 |
40 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488142294 CA399179246 |
43 | G>E | No |
ClinGen gnomAD |
|
|
rs1567961425 CA399179244 |
43 | G>R | No |
ClinGen Ensembl |
|
|
CA8513958 rs138715433 |
44 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA399179257 rs1419736328 |
45 | D>H | No |
ClinGen gnomAD |
|
|
CA290156352 rs141743623 |
46 | G>E | No |
ClinGen ESP |
|
|
rs1181480386 CA399179277 |
48 | G>S | No |
gnomAD ClinGen |
|
|
CA399179282 rs1410042770 |
48 | G>V | No |
gnomAD ClinGen |
|
|
rs1442668542 CA399179292 |
50 | F>L | No |
gnomAD ClinGen |
|
|
CA399179298 rs1463175028 |
50 | F>L | No |
TOPMed gnomAD ClinGen |
|
|
CA290156358 rs551686794 |
51 | L>P | No |
ClinGen Ensembl |
|
|
rs1567961441 CA399179318 |
54 | G>D | No |
Ensembl ClinGen |
|
|
CA290156363 rs200696966 |
56 | I>M | No |
ClinGen gnomAD |
|
|
CA290156365 rs370417281 |
57 | R>G | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1300402162 CA399179338 |
57 | R>T | No |
gnomAD ClinGen |
|
|
CA399179350 rs1374613242 |
59 | L>V | No |
gnomAD ClinGen |
|
|
CA399179354 rs1401902578 |
60 | A>T | No |
ClinGen TOPMed |
|
|
rs770823608 CA8513961 |
60 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234720643 CA399179364 |
61 | S>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1348261927 CA399179359 |
61 | S>T | No |
gnomAD ClinGen |
|
|
rs776480713 CA8513962 |
64 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 64 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8513963 rs143527398 |
65 | L>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8513964 rs541871141 |
67 | T>A | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA8513965 rs775138504 |
67 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs183301493 CA8513967 |
69 | K>* | No |
ClinGen 1000Genomes ExAC |
|
|
CA290156400 rs1034834371 |
69 | K>R | No |
gnomAD ClinGen |
|
|
CA399179420 rs1181647261 |
70 | R>S | No |
TOPMed ClinGen |
|
|
CA8513969 rs761452941 |
72 | C>S | No |
ExAC gnomAD ClinGen |
|
|
CA290156428 rs983096028 |
73 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 73 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290156443 rs1015516865 |
74 | K>Q | No |
Ensembl ClinGen |
|
|
CA399179444 rs1479262163 |
74 | K>R | No |
Ensembl ClinGen |
|
|
CA399179454 rs1192252508 |
76 | T>P | No |
TOPMed ClinGen |
|
|
CA399179456 rs1192252508 |
76 | T>S | No |
ClinGen TOPMed |
|
|
rs750918324 CA8513971 |
77 | S>A | No |
ExAC gnomAD ClinGen |
|
|
CA8513972 rs761062956 |
78 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA399179686 rs1306922955 |
81 | W>* | No |
gnomAD ClinGen |
|
|
rs1249798870 CA399179697 |
82 | N>S | No |
ClinGen TOPMed |
|
|
CA399179695 rs1249798870 |
82 | N>T | No |
TOPMed ClinGen |
|
|
CA8513975 rs557663532 |
83 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA290156467 rs973725896 |
84 | D>G | No |
Ensembl ClinGen |
|
|
rs111774534 CA8513976 |
84 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs758427829 CA8513978 |
85 | H>R | No |
ExAC ClinGen |
|
|
CA8513977 rs139450534 |
85 | H>Y | No |
ESP ExAC gnomAD ClinGen |
|
|
rs368158277 CA290156479 |
88 | Q>R | No |
ESP TOPMed ClinGen |
|
|
CA8513980 rs745794396 |
89 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA8513981 rs370506142 |
91 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA290156485 rs370506142 |
91 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399179802 rs563928477 |
92 | G>A | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA8513982 rs563928477 |
92 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399179807 rs920983845 |
93 | S>* | No |
gnomAD ClinGen |
|
|
CA399179808 rs920983845 |
93 | S>L | No |
gnomAD ClinGen |
|
|
CA290156491 rs920983845 |
93 | S>W | No |
ClinGen gnomAD |
|
| TCGA novel | 94 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143349898 CA8513998 |
95 | D>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA399179835 rs1255450672 |
96 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 97 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112070383 CA290157936 |
98 | I>M | No |
ClinGen gnomAD |
|
|
CA8514000 rs112171972 |
98 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs777726198 CA8513999 |
98 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399179873 rs1412444068 |
101 | E>G | No |
ClinGen gnomAD |
|
|
rs755997485 CA8514001 |
102 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1388842117 CA399179889 |
103 | G>E | No |
ClinGen gnomAD |
|
|
rs1318248311 CA399179896 |
105 | G>R | No |
gnomAD ClinGen |
|
| TCGA novel | 106 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437076776 CA399179926 |
109 | S>T | No |
gnomAD ClinGen |
|
|
rs140132823 CA8514003 |
111 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399179941 rs1274375312 |
111 | G>R | No |
gnomAD ClinGen |
|
| TCGA novel | 113 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290157945 rs1003634176 |
113 | G>D | No |
ClinGen TOPMed |
|
|
CA399179960 rs1225741271 |
115 | E>K | No |
gnomAD ClinGen |
|
| TCGA novel | 116 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768596691 CA8514004 |
116 | E>K | No |
ExAC ClinGen |
|
|
CA399179979 rs1269028231 |
117 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
CA8514005 rs778670766 |
118 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1454358496 CA399179996 |
119 | E>D | No |
TOPMed ClinGen |
|
| TCGA novel | 119 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399179995 rs1158096616 |
119 | E>V | No |
TOPMed ClinGen |
|
|
CA8514007 rs145557208 |
121 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA290157982 rs145557208 |
121 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1452745115 CA399180013 |
122 | L>V | No |
gnomAD ClinGen |
|
|
CA399180019 rs1198741449 |
123 | G>R | No |
gnomAD ClinGen |
|
|
rs754047741 CA290157998 |
125 | A>D | No |
ClinGen TOPMed |
|
|
CA8514008 rs772583211 |
130 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1456333910 CA399180068 |
130 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA8514009 rs760300516 |
131 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA399180107 rs1444944394 |
135 | E>D | No |
ClinGen TOPMed |
|
|
rs771320656 CA8514010 |
136 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs1347985889 CA399180117 |
137 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
rs759852545 CA8514012 |
138 | K>N | No |
ClinGen ExAC |
|
|
rs1289025644 CA399180132 |
139 | S>G | No |
ClinGen gnomAD |
|
|
rs765587858 CA8514014 |
139 | S>R | No |
ExAC gnomAD ClinGen |
|
|
CA8514015 rs199945209 |
140 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA290158042 rs1036149062 |
141 | S>T | No |
TOPMed ClinGen |
|
|
rs1357491487 CA399180158 |
142 | H>Q | No |
ClinGen gnomAD |
|
|
rs1209829508 CA399180175 |
145 | K>R | No |
gnomAD ClinGen |
|
|
CA8514017 rs764440640 |
146 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs367664578 CA8514018 |
147 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 147 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399180192 rs1200974348 |
148 | G>D | No |
gnomAD ClinGen |
|
| TCGA novel | 149 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251878810 CA399180195 |
149 | F>V | No |
ClinGen gnomAD |
|
|
rs897283200 CA290158064 |
151 | V>A | No |
ClinGen TOPMed |
|
|
rs753861401 CA8514021 |
152 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
rs930150608 CA290158087 |
152 | Q>R | No |
Ensembl ClinGen |
|
|
rs1225842661 CA399180244 |
155 | S>R | No |
TOPMed ClinGen |
|
|
rs1378241739 CA399180256 |
157 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 158 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399180262 rs1473009460 |
158 | E>Q | No |
ClinGen gnomAD |
|
|
rs963987935 CA290158103 |
159 | K>E | No |
ClinGen TOPMed |
|
|
rs1388536834 CA399180287 |
161 | T>N | No |
gnomAD ClinGen |
|
|
rs748033236 CA8514025 |
162 | K>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8514028 rs777530403 |
163 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8514026 rs757983722 |
163 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777530403 CA8514027 |
163 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs145311864 CA8514029 |
164 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777053943 CA8514030 |
168 | G>E | No |
ExAC gnomAD ClinGen |
|
|
rs764952614 CA8514032 |
170 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924087605 CA290158130 |
170 | S>T | No |
ClinGen TOPMed |
|
|
rs200010566 CA290158141 |
171 | E>A | No |
Ensembl ClinGen |
|
| TCGA novel | 171 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775709661 CA8514033 |
172 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8514034 rs763412515 |
173 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs28656116 CA8514035 |
174 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA290158164 rs1018671030 |
175 | D>G | No |
ClinGen TOPMed |
|
|
rs767713490 CA8514038 |
176 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs201302577 CA8514037 |
176 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202139717 CA399180402 |
178 | S>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs202139717 CA8514040 |
178 | S>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 180 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs113069950 CA8514041 |
180 | M>V | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1389694367 CA399180425 |
181 | E>D | No |
gnomAD ClinGen |
|
|
CA8514042 rs557139056 |
182 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8514043 rs758233833 |
183 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1352985479 CA399180443 |
184 | D>G | No |
gnomAD ClinGen |
|
|
CA399180440 rs1403206889 |
184 | D>H | No |
gnomAD ClinGen |
|
|
rs746677629 CA8514045 |
186 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8514046 rs140502727 |
186 | A>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA399180460 rs1342536843 |
187 | E>Q | No |
TOPMed ClinGen |
|
|
rs1340573131 CA399180473 |
188 | D>E | No |
gnomAD ClinGen |
|
|
CA8514048 rs146758318 |
190 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749570271 CA8514051 |
192 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 193 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399180527 rs1408625719 |
196 | D>Y | No |
TOPMed ClinGen |
|
|
rs1168785687 CA399180534 |
197 | R>W | No |
ClinGen TOPMed |
|
|
CA8514052 rs769098439 |
198 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290158263 rs949756710 |
200 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs1567962671 CA399180555 |
200 | D>V | No |
ClinGen Ensembl |
|
|
CA8514053 rs553191463 |
201 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8514054 rs762141103 |
205 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399180589 rs762141103 |
205 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 206 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399180603 rs1201152596 |
207 | G>S | No |
ClinGen gnomAD |
|
|
CA8514055 rs772483101 |
210 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8514056 rs773422315 |
213 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1171019294 CA399180647 |
213 | S>C | No |
ClinGen gnomAD |
|
|
CA8514058 rs765216865 |
214 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8514057 rs760877769 |
214 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA8514059 rs752710778 |
216 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs752710778 CA399180663 |
216 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762585990 CA8514060 |
217 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs1597696366 CA399180677 |
218 | S>F | No |
ClinGen Ensembl |
|
|
CA8514061 rs376353889 |
219 | E>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 219 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761744080 CA290158297 |
221 | V>G | No |
Ensembl ClinGen |
|
|
CA290158310 rs369680508 |
222 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399180706 rs1489809811 |
223 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
CA8514063 rs756895543 |
223 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 225 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8514065 rs749909733 |
226 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 226 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399180730 rs1267233958 |
227 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399180737 rs1463520620 |
228 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
rs749809640 CA8514068 |
228 | K>T | No |
ExAC gnomAD ClinGen |
|
|
CA290158347 rs11650575 |
229 | N>T | No |
Ensembl ClinGen |
|
|
CA399180752 rs1191117104 |
230 | Q>* | No |
gnomAD ClinGen |
|
|
rs1461562173 CA399180760 |
231 | I>V | No |
ClinGen TOPMed |
|
|
CA290158368 rs1025754385 |
232 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
CA8514103 rs760365922 |
233 | L>R | No |
ExAC gnomAD ClinGen |
|
|
CA8514107 rs754497629 |
236 | Q>* | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 236 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399180818 rs1371040625 |
238 | L>S | No |
TOPMed ClinGen |
|
|
rs1371040625 CA399180819 |
238 | L>W | No |
TOPMed ClinGen |
|
|
rs1182829675 CA399180829 |
239 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 241 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399180851 rs1462286355 |
243 | K>E | No |
TOPMed ClinGen |
|
|
rs376196400 CA8514108 |
243 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290158808 rs1054553638 |
245 | Q>E | No |
ClinGen TOPMed |
|
|
CA8514112 rs747441687 |
246 | K>E | No |
ExAC gnomAD ClinGen |
|
|
CA8514113 rs115760333 |
247 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA290158840 rs796424851 |
247 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA290158842 rs908580160 |
250 | T>I | No |
ClinGen TOPMed |
|
|
rs781316785 CA8514114 |
251 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8514115 rs745909216 |
252 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA399180906 rs1249001849 |
252 | N>S | No |
ClinGen TOPMed |
|
|
CA290158886 rs1024615991 |
253 | Q>H | No |
ClinGen Ensembl |
|
|
CA399180916 rs1450437710 |
254 | L>F | No |
gnomAD ClinGen |
|
|
rs1458490629 CA399180952 |
259 | V>F | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199854942 CA290158911 |
263 | F>L | No |
gnomAD ClinGen |
|
| TCGA novel | 264 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211081892 CA399180988 |
264 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8514118 rs748101152 |
265 | D>E | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 268 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772058410 CA8514119 |
269 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 270 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760428236 CA8514121 |
272 | S>F | No |
ClinGen ExAC |
|
|
CA8514120 rs772988204 |
272 | S>T | No |
ExAC gnomAD ClinGen |
|
|
rs201043742 CA290158935 |
273 | S>N | No |
ClinGen Ensembl |
|
|
CA8514122 rs116057283 |
274 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 278 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161166005 CA399183924 |
279 | H>Y | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 280 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770664657 CA8514139 |
282 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8514140 rs776287818 |
282 | L>R | No |
ExAC gnomAD ClinGen |
|
|
rs775108752 CA8514143 |
285 | L>S | No |
ExAC gnomAD ClinGen |
|
|
rs762596616 CA8514144 |
286 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs764644616 CA8514145 |
287 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA399183985 rs1289445300 |
288 | S>L | No |
ClinGen gnomAD |
|
|
rs114365683 CA8514148 |
291 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762174245 CA8514147 |
291 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA399184011 rs1292653349 |
293 | Q>* | No |
gnomAD ClinGen |
|
|
rs750862289 CA8514149 |
296 | L>S | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 296 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 301 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 301 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780295228 CA8514151 |
302 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA8514150 rs756327759 |
302 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1183879033 CA399184082 |
303 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 303 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399184081 rs1183879033 |
303 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1465350103 CA399184099 |
305 | Y>C | No |
ClinGen TOPMed |
|
|
CA8514153 rs141862092 |
307 | V>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs116370045 CA8514154 |
308 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290184977 rs992123797 |
309 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399184137 rs1363781398 |
311 | K>N | No |
gnomAD ClinGen |
|
|
rs770957484 CA8514156 |
313 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200375945 CA399184153 |
314 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8514157 rs780844009 |
314 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs200375945 CA8514158 |
314 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs769545250 CA8514159 |
315 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1197584220 CA399184155 |
315 | G>R | No |
TOPMed ClinGen |
|
|
CA399184163 rs1357736040 |
316 | S>N | No |
gnomAD ClinGen |
|
|
rs1313558249 CA399184640 |
317 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399184696 rs1367922043 |
321 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 321 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752886659 CA8514174 |
321 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs781239215 CA8514176 |
325 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA399184783 rs1193712250 |
325 | E>K | No |
ClinGen gnomAD |
|
|
CA399184841 rs1182681506 |
327 | V>L | No |
ClinGen gnomAD |
|
|
CA8514178 rs756002000 |
328 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8514179 rs779784024 |
329 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
rs369548620 CA8514180 |
331 | K>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA399184979 rs1460721488 |
332 | Q>* | No |
gnomAD ClinGen |
|
|
rs768484669 CA8514181 |
332 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA399185003 rs1403094202 |
333 | Q>K | No |
gnomAD ClinGen |
|
|
CA8514182 rs200484699 |
334 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8514183 rs369773296 |
334 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs772436415 CA8514184 |
336 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399185093 rs1597714601 |
336 | R>T | No |
ClinGen Ensembl |
|
|
rs115835657 CA8514185 |
338 | P>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA8514186 rs544135738 |
339 | A>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
| TCGA novel | 340 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261002677 CA399185169 |
341 | R>G | No |
gnomAD ClinGen |
|
|
rs143070021 CA290185697 |
341 | R>K | No |
ClinGen ESP |
|
|
rs987119205 CA399185293 |
345 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs987119205 CA290185706 |
345 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs138690067 CA8514188 |
347 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs759748313 CA8514189 |
348 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA290185718 rs1041400924 |
349 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 352 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765535330 CA8514190 |
352 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8514191 rs560525426 |
355 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA8514192 rs142695431 |
355 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8514193 rs142695431 |
355 | R>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA290185728 rs955861595 |
356 | F>S | No |
ClinGen TOPMed |
|
|
rs750387272 CA8514194 |
358 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA399185662 rs1458279885 |
358 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8514195 rs755912243 |
359 | F>C | No |
ExAC ClinGen |
|
|
CA399185765 rs1383355170 |
362 | Y>C | No |
gnomAD ClinGen |
|
|
rs1380060368 CA399185776 |
363 | R>G | No |
gnomAD ClinGen |
|
|
CA399185798 rs1324896577 |
363 | R>T | No |
gnomAD ClinGen |
|
|
rs114442310 CA8514197 |
365 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs754559104 CA8514199 |
365 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs754559104 CA8514198 |
365 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114442310 CA399185836 |
365 | R>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA399185844 rs1330938139 |
366 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
CA8514200 rs747562073 |
366 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs773644600 CA8514203 |
368 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773644600 CA8514202 |
368 | Q>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs147339974 CA8514204 |
370 | W>* | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1346714374 CA399185882 |
370 | W>R | No |
ClinGen TOPMed |
|
|
CA8514205 rs199883001 |
371 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 371 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290185751 rs140200159 |
372 | D>N | No |
ESP gnomAD ClinGen |
|
|
CA399185902 rs1567974990 |
372 | D>V | No |
ClinGen Ensembl |
|
|
rs1197518880 CA399185906 |
373 | K>E | No |
ClinGen gnomAD |
|
|
CA8514207 rs141988516 |
376 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473126993 CA399185947 |
379 | G>E | No |
gnomAD ClinGen |
|
|
rs1159331980 CA399185949 |
380 | K>E | No |
ClinGen TOPMed |
|
|
CA8514208 rs775807638 |
383 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397499519 CA399186002 |
386 | G>D | No |
ClinGen gnomAD |
|
|
rs766374799 CA8514232 |
390 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs373521950 CA8514233 |
390 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8514235 rs765095757 |
392 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 393 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204091853 CA399186122 |
395 | Q>* | No |
ClinGen gnomAD |
|
|
CA399186138 rs1182740601 |
397 | D>G | No |
gnomAD ClinGen |
|
|
CA8514236 rs370934170 |
397 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1443298582 CA399186154 |
399 | I>T | No |
gnomAD ClinGen |
|
|
rs139866100 CA8514237 |
399 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 401 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 402 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399186187 rs1305707069 |
404 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 405 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374671217 CA8514242 |
408 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA8514243 rs115334426 |
408 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs979748190 CA290185988 |
410 | T>I | No |
ClinGen Ensembl |
|
|
CA8514245 rs781608799 |
411 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA8514246 rs746395950 |
412 | T>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA399186242 rs1405808182 |
413 | K>E | No |
TOPMed ClinGen |
|
|
CA290186010 rs924491861 |
414 | R>C | No |
ClinGen TOPMed |
|
|
CA8514247 rs770259796 |
414 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA399186263 rs1207741296 |
416 | V>A | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 416 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749657961 CA8514249 |
417 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA290186027 rs989774289 |
418 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs139574552 CA8514251 |
418 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139574552 CA8514250 |
418 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 419 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8514252 rs761944888 |
419 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204763742 CA399186280 |
420 | L>V | No |
ClinGen gnomAD |
|
|
rs756923040 CA290186035 |
422 | K>I | No |
ClinGen TOPMed |
|
|
rs1262874546 CA399186317 |
425 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA290186052 rs1045523068 |
428 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA8514253 rs772282773 |
428 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374739235 CA8514254 |
430 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs374739235 CA8514255 |
430 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8514256 rs765125815 |
431 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 431 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399186373 rs1398175054 |
434 | L>F | No |
TOPMed ClinGen |
|
|
CA8514257 rs777230293 |
435 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763695386 CA8514259 |
436 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367853342 CA290186080 |
438 | P>L | No |
ESP gnomAD ClinGen |
|
| TCGA novel | 439 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763889388 CA8514278 |
440 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA399186431 rs1405570221 |
442 | P>L | No |
ClinGen gnomAD |
|
|
rs774188238 CA8514279 |
444 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs1597715756 CA399186446 |
444 | A>V | No |
Ensembl ClinGen |
|
|
CA399186448 rs1404223779 |
445 | P>S | No |
gnomAD ClinGen |
|
|
rs761448475 CA8514281 |
446 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1028487229 CA290186593 |
448 | A>V | No |
ClinGen TOPMed |
|
|
CA399186475 rs1222561215 |
449 | H>R | No |
gnomAD ClinGen |
|
|
CA399186473 rs1350640567 |
449 | H>Y | No |
gnomAD ClinGen |
|
|
CA290186596 rs1022029256 |
450 | L>M | No |
TOPMed gnomAD ClinGen |
|
|
rs1268988242 CA399186483 |
451 | K>Q | No |
TOPMed ClinGen |
|
|
CA8514284 rs374750024 |
454 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 456 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399186522 rs1463814901 |
456 | E>Q | No |
ClinGen TOPMed |
|
|
rs766869995 CA8514285 |
456 | E>V | No |
ExAC gnomAD ClinGen |
|
|
rs1183769720 CA399186530 |
457 | I>V | No |
ClinGen gnomAD |
|
|
CA8514286 rs754309759 |
459 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755341121 CA8514287 |
460 | D>G | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 460 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 461 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 461 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8514288 rs779410525 |
464 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
CA8514289 rs748592627 |
466 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8514313 rs146537997 |
467 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8514315 rs745986783 |
468 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA290356883 rs759338868 |
469 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759338868 CA290356881 |
469 | R>G | No |
ClinGen TOPMed |
|
|
CA8514317 rs140425958 |
469 | R>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs140425958 CA8514316 |
469 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 471 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8514319 rs771768540 |
471 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs748206822 CA290356925 |
472 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs772867974 CA8514320 |
472 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA399237217 rs1045687198 |
474 | R>L | No |
TOPMed ClinGen |
|
|
rs1045687198 CA290356939 |
474 | R>Q | No |
ClinGen TOPMed |
|
|
CA8514321 rs760234359 |
474 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1423832911 CA399237229 |
475 | K>T | No |
gnomAD ClinGen |
|
|
rs141756894 CA8514322 |
476 | T>N | No |
1000Genomes ExAC TOPMed ClinGen |
|
|
rs141756894 CA399237253 |
476 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs765796809 CA8514325 |
478 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8514324 rs759136693 |
478 | S>P | No |
ExAC gnomAD ClinGen |
|
|
CA399237298 rs1212107109 |
479 | L>S | No |
ClinGen TOPMed |
|
|
CA8514326 rs753257388 |
480 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs17139107 CA399237321 |
482 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8514327 rs543287200 |
482 | N>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA399237325 rs1391417714 |
483 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8514329 rs371952317 |
483 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399237338 rs1291013748 |
485 | V>L | No |
TOPMed ClinGen |
|
|
rs1291013748 CA399237337 |
485 | V>M | No |
ClinGen TOPMed |
|
|
rs781439292 CA8514331 |
487 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 488 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399237395 rs1184240166 |
491 | W>L | No |
ClinGen TOPMed |
|
|
rs1490241009 CA399237401 |
492 | L>F | No |
gnomAD ClinGen |
|
|
CA399237406 rs1197762594 |
493 | A>S | No |
ClinGen gnomAD |
|
|
CA8514352 rs112619742 |
494 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs766437262 CA8514353 |
495 | Q>P | No |
ExAC gnomAD ClinGen |
|
|
rs754019125 CA8514355 |
498 | R>* | Variant assessed as Somatic; 0.0001388 impact. [NCI-TCGA] | No |
ExAC TOPMed ClinGen NCI-TCGA |
|
CA290358076 rs368531596 |
498 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1164886232 CA399237444 |
499 | S>G | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 503 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290358092 rs545046979 |
503 | K>R | No |
ClinGen 1000Genomes |
|
|
rs1417387522 CA399237493 |
505 | V>G | No |
Ensembl ClinGen |
|
|
CA399237488 rs1248270397 |
505 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399237489 rs1248270397 |
505 | V>L | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 505 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399237495 rs777818504 |
506 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA8514359 rs746738267 |
506 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA8514358 rs777818504 |
506 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780930998 CA8514361 |
507 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs116053615 CA8514362 |
509 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769637464 CA8514363 |
512 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1315780772 CA399237540 |
513 | R>G | No |
gnomAD ClinGen |
|
|
rs1389573709 CA399237557 |
515 | L>F | No |
Ensembl ClinGen |
|
|
rs868811506 CA290358115 |
516 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
rs199725061 CA8514364 |
516 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 518 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8514383 rs779776437 |
521 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA8514384 rs568489226 |
522 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399238705 rs1470800178 |
525 | S>C | No |
gnomAD ClinGen |
|
|
CA8514387 rs748675019 |
527 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779232104 CA8514386 |
527 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772637684 CA8514388 |
528 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs772637684 CA399238726 |
528 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs761079040 CA8514390 |
531 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs773538745 CA8514389 |
531 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381861671 CA399238754 |
532 | H>R | No |
gnomAD ClinGen |
|
|
rs771095646 CA290363954 |
533 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8514391 rs771095646 |
533 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372937668 CA290363958 |
534 | T>A | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1457833471 CA399238766 |
534 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 535 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290363962 rs952524733 |
538 | D>G | No |
TOPMed gnomAD ClinGen |
|
|
rs765342972 CA8514394 |
540 | R>K | No |
ExAC gnomAD ClinGen |
|
|
CA8514393 rs759473893 |
540 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA399240190 rs1348513442 |
541 | T>A | No |
gnomAD ClinGen |
|
|
rs1280677935 CA399240199 |
542 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 542 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399240212 rs1373179525 |
544 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
CA8514424 rs138726776 |
545 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs374540075 CA8514425 |
545 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs765568934 CA290384076 |
546 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1288636603 CA399240242 |
549 | G>D | No |
gnomAD ClinGen |
|
| TCGA novel | 550 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290384088 rs765211648 |
551 | L>F | No |
gnomAD ClinGen |
|
|
rs530840597 CA8514427 |
552 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs770009044 CA8514429 |
553 | P>H | No |
ExAC gnomAD ClinGen |
|
|
rs746266118 CA8514428 |
553 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs941507028 CA290384137 |
554 | P>L | No |
Ensembl ClinGen |
|
|
rs146936760 CA8514432 |
555 | D>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs114527666 CA8514430 |
555 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367770515 CA8514433 |
556 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1412019823 CA399240287 |
557 | G>S | No |
ClinGen gnomAD |
|
|
rs116211664 CA8514435 |
558 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1354511982 CA399240302 |
559 | G>R | No |
gnomAD ClinGen |
|
| TCGA novel | 561 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9NY61
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| 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. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| leucine zipper domain binding | Binding to a leucine zipper domain, a protein secondary structure exhibiting a periodic repetition of leucine residues at every seventh position over a distance covering eight helical turns. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| tau protein binding | Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| embryonic cleavage | The first few specialized divisions of an activated animal egg. |
| negative regulation of amyloid precursor protein biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of amyloid precursor protein (APP), the precursor of amyloid-beta. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. |
| negative regulation of reactive oxygen species metabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of reactive oxygen species metabolic process. |
| negative regulation of superoxide anion generation | Any process that stops, prevents, or reduces the frequency, rate or extent of enzymatic generation of superoxide by a cell. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| ribosome biogenesis | A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of ribosome subunits; includes transport to the sites of protein synthesis. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9JKX4 | Aatf | Protein AATF | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGPQPLALQ | LEQLLNPRPS | EADPEADPEE | ATAARVIDRF | DEGEDGEGDF | LVVGSIRKLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SASLLDTDKR | YCGKTTSRKA | WNEDHWEQTL | PGSSDEEISD | EEGSGDEDSE | GLGLEEYDED |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLGAAEEQEC | GDHRESKKSR | SHSAKTPGFS | VQSISDFEKF | TKGMDDLGSS | EEEEDEESGM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEGDDAEDSQ | GESEEDRAGD | RNSEDDGVVM | TFSSVKVSEE | VEKGRAVKNQ | IALWDQLLEG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RIKLQKALLT | TNQLPQPDVF | PLFKDKGGPE | FSSALKNSHK | ALKALLRSLV | GLQEELLFQY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PDTRYLVDGT | KPNAGSEEIS | SEDDELVEEK | KQQRRRVPAK | RKLEMEDYPS | FMAKRFADFT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VYRNRTLQKW | HDKTKLASGK | LGKGFGAFER | SILTQIDHIL | MDKERLLRRT | QTKRSVYRVL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GKPEPAAQPV | PESLPGEPEI | LPQAPANAHL | KDLDEEIFDD | DDFYHQLLRE | LIERKTSSLD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PNDQVAMGRQ | WLAIQKLRSK | IHKKVDRKAS | KGRKLRFHVL | SKLLSFMAPI | DHTTMNDDAR |
| 550 | |||||
| TELYRSLFGQ | LHPPDEGHGD |