Q58WW2
PR
Gene name |
DCAF6 (IQWD1, MSTP055) |
Protein name |
DDB1- and CUL4-associated factor 6 |
Names |
Androgen receptor complex-associated protein, ARCAP, IQ motif and WD repeat-containing protein 1, Nuclear receptor interaction protein, NRIP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55827 |
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
2 structures for Q58WW2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3I7O | X-ray | 280 A | B | 9-21 | PDB |
| AF-Q58WW2-F1 | Predicted | AlphaFoldDB |
567 variants for Q58WW2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA357934 RCV000210411 rs145189179 |
670 | R>Q | Cerebral visual impairment and intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1194912159 CA343090099 |
3 | R>Q | No |
ClinGen gnomAD |
|
|
rs780002986 CA1228587 |
3 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228588 rs146520790 |
4 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1228589 rs146520790 |
4 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343090134 rs1168998500 |
5 | G>D | No |
ClinGen gnomAD |
|
|
rs781123320 CA1228590 |
5 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343090214 rs1470856624 |
8 | P>L | No |
ClinGen TOPMed |
|
|
rs904940635 CA343090277 |
10 | L>M | No |
ClinGen gnomAD |
|
|
CA343090285 rs1350374296 |
10 | L>Q | No |
ClinGen gnomAD |
|
|
rs904940635 CA31415970 |
10 | L>V | No |
ClinGen gnomAD |
|
|
rs772615529 CA1228593 |
14 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1298600950 CA343090446 |
17 | R>G | No |
ClinGen gnomAD |
|
|
rs1049072952 CA31415991 |
17 | R>S | No |
ClinGen TOPMed |
|
|
rs748787337 CA1228594 |
18 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1322802778 CA343090546 |
22 | E>D | No |
ClinGen gnomAD |
|
|
CA343090576 rs1245609380 |
23 | D>E | No |
ClinGen gnomAD |
|
|
rs1215018792 CA343090551 |
23 | D>N | No |
ClinGen gnomAD |
|
|
rs1225719696 CA343090595 |
24 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343090622 rs762035265 |
26 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228601 rs765393339 |
26 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1228600 rs762035265 |
26 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893479676 CA31416024 |
29 | S>N | No |
ClinGen Ensembl |
|
|
CA1228603 rs758545042 |
30 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343090721 rs1462888925 |
30 | R>H | No |
ClinGen gnomAD |
|
|
CA1228604 rs758545042 |
30 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343090779 rs1571537967 |
32 | L>R | No |
ClinGen Ensembl |
|
|
CA343093684 rs1202699029 |
42 | K>E | No |
ClinGen gnomAD |
|
|
rs778496443 CA1228630 |
42 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1015695543 CA31425756 |
44 | E>* | No |
ClinGen Ensembl |
|
|
rs1472837953 CA343093724 |
46 | T>I | No |
ClinGen gnomAD |
|
|
CA1228632 rs769181701 |
47 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570540717 CA1228633 |
49 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343093762 rs1389852313 |
50 | H>R | No |
ClinGen TOPMed |
|
|
CA1228634 rs748632421 |
50 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343093776 rs1376270643 |
51 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757952182 CA1228651 |
57 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228652 rs146895084 |
58 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343096611 rs748722296 |
62 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228653 rs748722296 |
62 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343096689 rs1213148865 |
66 | I>M | No |
ClinGen gnomAD |
|
|
rs1355507060 CA343096679 |
66 | I>V | No |
ClinGen gnomAD |
|
|
CA343096758 rs12121926 |
68 | S>C | No |
ClinGen gnomAD |
|
|
CA31437282 rs12121926 |
68 | S>F | No |
ClinGen gnomAD |
|
|
rs778216095 CA1228655 |
73 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201085062 CA343097013 |
74 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201085062 CA31437302 |
74 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201085062 CA343097015 |
74 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774759088 CA1228658 |
77 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759778424 CA1228659 |
78 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1228660 rs772286593 |
80 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573566321 CA1228691 |
85 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343079980 rs1291361516 |
86 | L>S | No |
ClinGen Ensembl |
|
|
rs753711637 CA1228692 |
87 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557914476 CA343080076 |
89 | I>M | No |
ClinGen Ensembl |
|
|
rs762650151 CA1228694 |
89 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM366981 rs543895185 CA1228695 |
90 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA343080085 rs751118325 |
90 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228696 rs751118325 |
90 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176140727 CA343080189 |
94 | R>* | No |
ClinGen gnomAD |
|
|
rs1408154503 CA343080200 |
94 | R>Q | No |
ClinGen gnomAD |
|
|
CA343080318 rs1173571361 |
101 | K>T | No |
ClinGen gnomAD |
|
|
CA1228698 rs767000590 |
104 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351008382 CA343080446 |
105 | C>R | No |
ClinGen TOPMed |
|
|
CA1228700 rs757838275 |
108 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1228701 rs779481095 |
112 | V>I | No |
ClinGen ExAC |
|
|
rs1298672619 CA343081313 |
115 | S>C | No |
ClinGen gnomAD |
|
|
rs780456850 CA1228704 |
119 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 120 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347383259 CA343081490 |
120 | I>V | No |
ClinGen gnomAD |
|
|
rs768632730 CA1228706 |
122 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776707096 CA1228707 |
123 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs776707096 CA343081646 |
123 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs748099536 CA1228708 |
124 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs762703198 CA1228711 |
125 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs773037457 CA1228710 |
125 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228712 rs770670114 |
126 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1394103826 CA343081767 |
127 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1228714 rs759166225 |
128 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs773893367 CA1228713 |
128 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA31413229 rs573827582 |
131 | T>I | No |
ClinGen TOPMed |
|
|
CA31413227 rs573827582 |
131 | T>S | No |
ClinGen TOPMed |
|
|
CA31413231 rs934394930 |
133 | R>G | No |
ClinGen Ensembl |
|
|
rs1388159391 CA343082004 |
133 | R>K | No |
ClinGen gnomAD |
|
|
rs767007303 CA1228716 |
134 | Q>K | No |
ClinGen ExAC |
|
|
rs762462208 CA1228718 |
135 | C>W | No |
ClinGen ExAC |
|
|
CA1228719 rs765811124 COSM207646 |
138 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 141 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356161115 CA343082421 |
143 | T>S | No |
ClinGen gnomAD |
|
|
CA343082442 rs1444501712 |
144 | T>A | No |
ClinGen gnomAD |
|
|
rs755203634 CA343086918 CA1228745 |
148 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA31422891 rs1008583299 |
149 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1418459679 CA343086955 |
150 | V>A | No |
ClinGen gnomAD |
|
|
rs781442830 CA343086939 |
150 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781442830 CA1228746 |
150 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752874636 CA1228747 |
152 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343087007 CA1228748 rs756205104 |
153 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1439253128 CA343087056 |
156 | T>I | No |
ClinGen gnomAD |
|
|
rs778626476 CA1228752 |
159 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA343087171 rs1413294990 |
163 | D>N | No |
ClinGen gnomAD |
|
|
CA1228755 rs775305846 |
164 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 167 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1228757 rs768286663 |
171 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228758 rs776277105 |
171 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM899140 rs555697780 CA1228759 |
172 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1440535583 CA343087519 |
176 | S>G | No |
ClinGen gnomAD |
|
|
rs1461278388 CA343087536 |
177 | C>R | No |
ClinGen TOPMed |
|
|
rs766886491 CA1228760 |
178 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA343087566 rs1213411590 |
178 | T>K | No |
ClinGen gnomAD |
|
|
rs774615994 CA1228761 |
179 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343087609 rs1486577692 |
180 | E>G | No |
ClinGen gnomAD |
|
|
rs759973651 CA343087682 |
184 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1228762 rs759973651 |
184 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1228785 rs760939923 |
185 | D>G | No |
ClinGen ExAC |
|
|
rs775825049 CA1228784 |
185 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA343088212 rs1166712923 |
191 | R>* | No |
ClinGen gnomAD |
|
|
CA1228788 rs757382904 COSM1203070 |
191 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA31425288 rs946508292 |
192 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA31425295 rs769457841 |
194 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs765173203 COSM3802737 CA1228789 COSM3802738 |
195 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1165872253 CA343088304 |
197 | V>A | No |
ClinGen TOPMed |
|
|
CA31425316 rs902147015 |
199 | I>N | No |
ClinGen Ensembl |
|
|
rs1439790649 CA343088327 |
199 | I>V | No |
ClinGen gnomAD |
|
|
rs758263884 CA1228791 |
201 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746777537 CA1228793 |
202 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1228794 rs754717069 |
203 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA343088443 rs1238220337 |
205 | Y>F | No |
ClinGen TOPMed |
|
|
rs747704216 CA1228796 |
206 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA31425357 rs141191160 |
207 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1228798 rs777076741 |
207 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141191160 CA1228797 |
207 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1228799 rs746450901 |
208 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557941203 CA343088510 |
209 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 212 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1228800 rs772549706 |
216 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1571837615 CA343089026 |
216 | V>I | No |
ClinGen Ensembl |
|
|
rs761062262 CA343089057 |
217 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553226124 CA343089062 |
217 | R>Q | No |
ClinGen Ensembl |
|
|
CA343089103 rs1170141419 |
218 | I>M | No |
ClinGen gnomAD |
|
|
rs768963114 CA1228803 |
218 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1047634625 CA31425401 |
220 | D>Y | No |
ClinGen Ensembl |
|
|
rs761876903 CA1228805 |
221 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343089176 rs761876903 |
221 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776926593 CA1228804 COSM274740 |
221 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1372667122 CA343089189 |
222 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1380314648 CA343089226 |
224 | L>Q | No |
ClinGen gnomAD |
|
|
rs374086980 CA1228808 |
225 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374086980 CA31425447 |
225 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1294510520 CA343089258 |
225 | G>S | No |
ClinGen gnomAD |
|
|
CA1228809 rs766387347 |
226 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228810 rs751501475 |
229 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA343089387 rs1326613491 |
229 | T>I | No |
ClinGen gnomAD |
|
|
CA343089398 rs1413785208 |
230 | G>R | No |
ClinGen TOPMed |
|
|
CA1228828 rs773380695 |
230 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs763156521 CA1228829 |
231 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395325094 CA343089858 |
232 | Y>N | No |
ClinGen TOPMed |
|
|
CA1228830 rs766516732 |
233 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1228831 rs766516732 |
233 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs759477011 CA1228832 |
233 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485596461 CA343089944 |
235 | R>* | No |
ClinGen gnomAD |
|
|
rs1049258261 CA343089947 |
235 | R>P | No |
ClinGen TOPMed |
|
|
rs1049258261 CA31427069 |
235 | R>Q | No |
ClinGen TOPMed |
|
|
rs1044475466 CA31427079 |
236 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA31427100 rs767409390 |
238 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767409390 CA1228833 |
238 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs752417831 CA1228834 |
240 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1157989279 CA343089996 |
240 | M>V | No |
ClinGen gnomAD |
|
|
CA1228835 rs143999777 |
242 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200843977 CA1228836 |
243 | R>C | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
COSM1203071 rs753483406 CA1228837 |
243 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1460368773 CA343090073 |
245 | I>T | No |
ClinGen gnomAD |
|
|
rs778329582 CA1228839 |
248 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1228840 rs778329582 |
248 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1228841 rs755464947 |
249 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343090176 rs1389694634 |
251 | N>H | No |
ClinGen gnomAD |
|
|
rs938751673 CA31427150 |
252 | K>M | No |
ClinGen TOPMed |
|
|
CA343090344 rs1557945102 |
255 | R>T | No |
ClinGen Ensembl |
|
| TCGA novel | 256 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31427173 rs1015360445 |
258 | S>F | No |
ClinGen gnomAD |
|
|
CA343090455 rs1015360445 |
258 | S>Y | No |
ClinGen gnomAD |
|
|
rs1347607012 CA343090821 |
267 | E>K | No |
ClinGen gnomAD |
|
|
rs1013962018 CA31427215 |
270 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1228845 rs773326971 |
274 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA343091800 rs1250802156 |
275 | D>E | No |
ClinGen gnomAD |
|
|
CA31427244 rs978985051 |
277 | I>M | No |
ClinGen gnomAD |
|
|
rs372291616 CA1228847 |
277 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774565385 CA1228848 |
278 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1394292272 CA343091884 |
279 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs561877453 CA1228851 |
282 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561877453 CA343091963 |
282 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767332265 CA1228850 |
282 | P>S | No |
ClinGen ExAC |
|
|
rs529336881 CA31427296 |
285 | D>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs763894032 CA1228853 |
286 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA343092099 rs1240780856 |
286 | T>I | No |
ClinGen TOPMed |
|
|
CA343092127 rs1374127437 |
288 | R>* | No |
ClinGen gnomAD |
|
|
rs753496627 CA1228854 |
288 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1228855 rs188682339 |
292 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764787359 CA1228856 |
293 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs764787359 CA343092242 |
293 | P>T | No |
ClinGen ExAC TOPMed |
|
| rs1236795211 | 294 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343092315 rs142328126 |
295 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1228858 rs142328126 |
295 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1251445623 CA343092447 |
300 | E>A | No |
ClinGen gnomAD |
|
|
rs184187462 CA31435109 |
303 | R>* | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
rs959403927 CA343095054 |
303 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs959403927 CA31435131 |
303 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA31435139 rs375392202 |
305 | P>A | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 309 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343095190 rs1275161266 |
309 | R>H | No |
ClinGen TOPMed |
|
|
rs780181955 CA1228887 |
313 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA1228889 rs768616130 |
325 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 328 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31435189 rs199713023 |
328 | E>K | No |
ClinGen 1000Genomes |
|
|
CA31435190 rs201324090 |
330 | E>G | No |
ClinGen 1000Genomes |
|
|
rs945547033 CA31435191 |
331 | R>Q | No |
ClinGen Ensembl |
|
|
CA1228891 rs761628731 |
332 | D>G | No |
ClinGen ExAC |
|
|
rs1173589708 CA343095620 COSM1295433 |
335 | Q>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1403488202 CA343095629 |
336 | S>R | No |
ClinGen gnomAD |
|
|
rs1415687508 CA343095635 |
337 | P>L | No |
ClinGen gnomAD |
|
|
rs548262683 CA1228907 |
338 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1228909 rs769581421 |
339 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA343095662 rs1407238775 |
342 | M>V | No |
ClinGen TOPMed |
|
|
CA1228910 rs772986253 |
343 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA343095713 rs1176727452 |
348 | M>I | No |
ClinGen TOPMed |
|
|
CA343095711 rs1368582468 |
348 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 349 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343095725 rs1233239791 |
350 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 353 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343095767 rs1468907946 |
353 | F>V | No |
ClinGen TOPMed |
|
|
CA343095796 rs1280955662 |
355 | E>G | No |
ClinGen gnomAD |
|
|
CA343095798 rs1280955662 |
355 | E>V | No |
ClinGen gnomAD |
|
|
rs762567797 CA1228911 |
356 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1193988221 CA343095818 |
357 | S>G | No |
ClinGen gnomAD |
|
|
rs1052623100 CA31436290 |
358 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA343095848 rs1179547845 |
359 | V>I | No |
ClinGen gnomAD |
|
|
rs1475730542 CA343095902 |
362 | S>N | No |
ClinGen TOPMed |
|
|
CA343095916 rs1453003339 COSM1193349 |
363 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs111963033 CA31436301 |
366 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1228913 rs370291307 |
366 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200694842 CA31436320 |
368 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs759114970 CA343095997 |
369 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA1228914 rs759114970 |
369 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1462500583 CA343096004 |
370 | R>P | No |
ClinGen TOPMed |
|
|
CA343096017 rs1243462086 |
372 | R>S | No |
ClinGen TOPMed |
|
|
CA343096043 rs1557962169 |
375 | T>A | No |
ClinGen Ensembl |
|
|
CA1228932 rs774068704 |
375 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs112698635 CA31436888 |
376 | S>G | No |
ClinGen Ensembl |
|
|
rs1293721693 CA343096055 |
377 | Q>E | No |
ClinGen gnomAD |
|
|
CA1228934 rs745447512 |
377 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745447512 CA1228933 |
377 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31436899 rs749128244 |
379 | D>H | No |
ClinGen TOPMed |
|
|
rs942714576 CA31436901 |
380 | I>N | No |
ClinGen Ensembl |
|
|
rs1557962275 CA343096075 |
380 | I>V | No |
ClinGen Ensembl |
|
|
CA1228936 rs138263364 |
382 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376615323 CA31436915 |
384 | P>L | No |
ClinGen ESP |
|
|
rs1340979964 CA343096118 |
384 | P>S | No |
ClinGen gnomAD |
|
|
CA343096132 rs1219343100 |
385 | T>A | No |
ClinGen gnomAD |
|
|
CA1228937 rs765808967 |
385 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773553931 CA1228938 |
387 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1228941 rs751809715 |
391 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1228942 rs755188934 |
392 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31436955 rs898722749 |
392 | L>S | No |
ClinGen gnomAD |
|
|
CA343096238 rs755188934 |
392 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025774684 CA31436973 |
393 | E>G | No |
ClinGen gnomAD |
|
|
CA31436970 rs996171977 |
393 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343096282 rs1474581526 |
394 | V>E | No |
ClinGen gnomAD |
|
|
CA343096294 rs1369796195 |
395 | S>G | No |
ClinGen gnomAD |
|
|
CA343096322 rs1571897782 |
396 | E>A | No |
ClinGen Ensembl |
|
|
rs1157724560 CA343096503 |
401 | V>I | No |
ClinGen gnomAD |
|
|
rs756081187 CA1228945 |
403 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31436994 rs756081187 |
403 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228946 rs530976851 |
405 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343096713 rs1371422339 |
405 | A>V | No |
ClinGen gnomAD |
|
|
rs370456367 CA343096898 |
410 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370456367 CA1228947 |
410 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343096911 rs1323667371 |
411 | P>L | No |
ClinGen gnomAD |
|
|
CA343096909 rs1170367039 |
411 | P>S | No |
ClinGen TOPMed |
|
|
CA343096930 rs932917379 |
412 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA31437032 rs932917379 |
412 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1228949 rs778571242 |
413 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1228950 rs745578537 |
415 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775746423 CA31437061 |
416 | T>A | No |
ClinGen TOPMed |
|
|
CA1228953 rs775180638 |
417 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs775180638 CA1228952 |
417 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs771832631 CA1228951 |
417 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768005205 CA1228954 |
418 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1180640806 CA343097091 |
421 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1180640806 CA343097093 |
421 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773783534 CA1228955 COSM1242176 |
421 | A>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA343097106 rs1198326671 |
422 | H>Y | No |
ClinGen TOPMed |
|
|
rs1557962892 CA343097140 |
423 | S>A | No |
ClinGen Ensembl |
|
|
CA1228957 rs199631459 |
423 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343097182 rs1465614627 |
425 | S>T | No |
ClinGen gnomAD |
|
|
CA343097245 rs1381420033 |
427 | P>A | No |
ClinGen gnomAD |
|
|
rs1389925587 CA343097264 |
427 | P>L | No |
ClinGen gnomAD |
|
|
CA343097292 rs1203808845 |
428 | T>A | No |
ClinGen TOPMed |
|
|
CA343097360 rs1339954880 |
429 | E>G | No |
ClinGen TOPMed |
|
|
rs752872727 CA1228961 |
431 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343097422 rs752872727 |
431 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767690828 CA1228960 |
431 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767690828 CA343097403 |
431 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31437123 rs770698749 |
433 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1228962 rs760763828 |
434 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343097491 rs1312062927 |
434 | T>N | No |
ClinGen gnomAD |
|
|
CA343097473 rs760763828 |
434 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343097631 rs1197682012 |
440 | P>L | No |
ClinGen gnomAD |
|
|
CA1228968 rs758228451 |
444 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA343097704 rs758228451 |
444 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA343097824 rs1255482281 |
447 | S>F | No |
ClinGen gnomAD |
|
|
rs746603968 CA1228970 |
448 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA343097885 rs1367028955 |
449 | E>D | No |
ClinGen TOPMed |
|
|
CA1228971 rs768215355 |
449 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780561750 CA1228972 |
450 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA343097927 rs1460485457 |
451 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA343097918 rs1460485457 |
451 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA343098075 rs1401216253 |
456 | H>R | No |
ClinGen gnomAD |
|
|
CA1228973 rs749864251 |
456 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs935194003 CA31437199 |
457 | H>L | No |
ClinGen Ensembl |
|
|
rs1449480915 CA343098158 |
459 | S>C | No |
ClinGen gnomAD |
|
|
rs375882321 CA1229028 |
462 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261892519 CA343078743 |
466 | L>P | No |
ClinGen gnomAD |
|
|
rs753318675 CA1229030 |
472 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1229031 rs541276751 |
475 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343079225 rs1366278853 |
476 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457227083 CA343079307 |
480 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1229032 rs780560869 |
481 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs747493293 CA1229033 |
482 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199557349 CA31406159 |
488 | T>A | No |
ClinGen 1000Genomes |
|
|
CA1229036 rs748375177 |
489 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1002123951 CA31406163 |
491 | I>V | No |
ClinGen Ensembl |
|
|
rs1244319937 CA343079668 |
497 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA343080949 rs1244557793 |
500 | S>G | No |
ClinGen gnomAD |
|
|
CA343080962 rs1437599237 |
500 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA343080958 rs1437599237 |
500 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1444530125 CA343080986 |
501 | S>G | No |
ClinGen TOPMed |
|
|
CA343080997 rs1177717658 |
501 | S>N | No |
ClinGen gnomAD |
|
|
CA31408023 rs759726214 |
502 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA31408018 rs1024945890 |
502 | I>T | No |
ClinGen Ensembl |
|
|
rs1254744744 CA343081025 |
502 | I>V | No |
ClinGen TOPMed |
|
|
CA1229060 rs568799959 |
503 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA31408031 rs905197095 |
505 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1229063 rs149937051 |
509 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1002431898 CA31408032 |
509 | I>V | No |
ClinGen Ensembl |
|
|
CA31408048 rs1032606251 |
511 | S>N | No |
ClinGen gnomAD |
|
|
CA31408061 rs199881227 |
513 | C>Y | No |
ClinGen gnomAD |
|
|
CA343081520 rs1378068818 |
514 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1229066 rs201641031 |
514 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201641031 CA1229065 |
514 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 521 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1229070 rs144635426 |
522 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1229072 rs147870716 |
523 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147870716 CA1229073 |
523 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754179165 CA1229075 |
524 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs12128133 CA31408114 |
526 | S>R | No |
ClinGen Ensembl |
|
|
CA1229077 rs778902348 |
527 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1229080 rs562985680 |
528 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA31408146 rs967122140 |
529 | Q>R | No |
ClinGen Ensembl |
|
|
rs1407611551 CA343082080 |
530 | P>Q | No |
ClinGen TOPMed |
|
|
CA343082138 rs1464297896 |
532 | E>K | No |
ClinGen gnomAD |
|
|
rs1367096870 CA343082225 |
534 | D>G | No |
ClinGen TOPMed |
|
|
rs867696482 CA31408153 |
537 | T>I | No |
ClinGen gnomAD |
|
|
rs1365167635 CA343083140 |
539 | A>S | No |
ClinGen TOPMed |
|
|
CA343083179 rs1226230613 |
540 | P>L | No |
ClinGen gnomAD |
|
|
rs150717646 COSM106303 CA31408792 |
540 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 542 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371517707 CA1229100 |
543 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772926521 CA1229103 |
546 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs143798431 CA1229102 |
546 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1283715811 CA343083317 |
546 | D>Y | No |
ClinGen gnomAD |
|
|
VAR_035020 CA1229106 rs11558511 |
547 | V>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770540473 CA1229105 |
547 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs572508540 CA1229109 |
550 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1229111 rs540236616 |
552 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1229110 rs201913080 |
552 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1229112 rs367748107 |
553 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113151068 CA1229113 |
556 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1449978900 CA343083525 |
557 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 558 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343083558 rs766498819 |
559 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs766498819 CA1229114 |
559 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs144704671 CA1229116 |
564 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA31408846 rs965648950 |
565 | N>H | No |
ClinGen TOPMed |
|
|
rs997527377 CA31408852 |
565 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000955808 rs61745202 CA1229139 |
567 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA343083827 rs1457555117 |
569 | S>T | No |
ClinGen gnomAD |
|
|
rs1572075341 CA343083874 |
570 | D>E | No |
ClinGen Ensembl |
|
|
rs1274532018 CA343083860 |
570 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 570 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1229143 rs779420731 |
572 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343083921 rs1572075384 |
572 | F>S | No |
ClinGen Ensembl |
|
|
rs748742223 CA1229144 |
573 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343083989 rs1429341191 |
576 | P>L | No |
ClinGen gnomAD |
|
|
CA343084016 rs1168077249 |
578 | D>G | No |
ClinGen gnomAD |
|
|
rs202187604 CA343084050 |
580 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1229146 rs202187604 |
580 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343084095 rs1249613532 |
582 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA343084073 rs1572075593 |
582 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 583 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572075663 CA343084137 |
584 | R>G | No |
ClinGen Ensembl |
|
|
rs998501046 CA31409047 |
588 | N>S | No |
ClinGen TOPMed |
|
|
rs41271647 CA1229147 |
589 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs567460490 CA1229148 |
590 | D>Y | No |
ClinGen 1000Genomes ExAC |
|
|
COSM1626606 CA1229149 rs774557257 |
591 | R>C | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs759746198 CA1229150 |
591 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759746198 CA1229151 |
591 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759746198 CA31409071 |
591 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282807458 CA343084262 |
592 | S>F | No |
ClinGen gnomAD |
|
|
rs1435641270 CA343084246 |
592 | S>P | No |
ClinGen gnomAD |
|
|
rs1228009987 CA343084279 |
593 | C>W | No |
ClinGen TOPMed |
|
|
CA31409077 rs552983531 |
595 | V>F | No |
ClinGen Ensembl |
|
|
CA1229154 rs763968446 |
599 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343084393 rs1558022698 |
600 | A>V | No |
ClinGen Ensembl |
|
|
CA343084421 rs1558022754 |
602 | S>F | No |
ClinGen Ensembl |
|
|
rs1275526620 CA343084415 |
602 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 603 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343084469 rs1450434225 |
604 | K>R | No |
ClinGen gnomAD |
|
|
CA1229156 rs757124643 |
605 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331543395 CA343084490 |
606 | K>R | No |
ClinGen TOPMed |
|
|
rs765119034 CA1229157 |
610 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA343084650 rs1390201604 |
613 | Q>H | No |
ClinGen TOPMed |
|
|
rs1438701234 CA343084639 |
613 | Q>P | No |
ClinGen TOPMed |
|
|
rs1454022133 CA343084659 |
614 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750158437 CA1229158 |
615 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1336028 rs1191067865 CA343084678 |
615 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA343084673 rs1456361949 |
615 | S>T | No |
ClinGen TOPMed |
|
|
rs758105651 CA1229159 |
616 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs991012062 CA31409098 |
616 | T>I | No |
ClinGen TOPMed |
|
|
rs147907503 CA1229161 |
617 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1229162 rs754458571 |
618 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs778154272 CA1229163 |
619 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs376516958 CA1229165 |
624 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1229166 rs201322254 |
626 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343084885 rs1228387813 |
630 | Q>R | No |
ClinGen gnomAD |
|
|
rs772152608 CA1229168 |
631 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA343084912 rs1445456951 |
632 | Q>L | No |
ClinGen TOPMed |
|
|
CA31409152 rs878871477 |
634 | E>K | No |
ClinGen Ensembl |
|
|
rs531586851 CA343084943 |
636 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs201815206 CA1229170 |
636 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs531586851 CA1229171 |
636 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs963252746 CA31409159 COSM1203074 |
638 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs776499401 CA343084974 |
640 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1229172 rs776499401 |
640 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366515550 CA343084990 |
642 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs752420047 CA31409187 |
644 | T>A | No |
ClinGen Ensembl |
|
|
CA31409198 rs572960597 |
646 | T>P | No |
ClinGen Ensembl |
|
|
rs761830393 CA1229173 |
648 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs1164169713 CA343085109 |
650 | A>T | No |
ClinGen gnomAD |
|
|
rs974370980 CA31409202 |
650 | A>V | No |
ClinGen Ensembl |
|
|
CA31409204 rs989124162 |
651 | L>P | No |
ClinGen TOPMed |
|
|
CA343085133 rs989124162 |
651 | L>R | No |
ClinGen TOPMed |
|
|
rs765176243 CA1229174 |
652 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA343085204 rs1296468358 |
655 | D>V | No |
ClinGen gnomAD |
|
|
rs1383046893 CA343085305 |
659 | D>V | No |
ClinGen gnomAD |
|
|
CA1229177 rs765973083 |
661 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs375656740 CA1229179 |
665 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375656740 CA1229180 |
665 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343085405 rs1572076940 |
666 | G>D | No |
ClinGen Ensembl |
|
|
rs145383858 CA1229181 |
667 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558023432 CA343085430 |
668 | R>G | No |
ClinGen Ensembl |
|
|
CA343085462 rs1316377490 |
670 | R>* | No |
ClinGen gnomAD |
|
|
CA343085481 rs1572077027 |
671 | A>T | No |
ClinGen Ensembl |
|
|
rs746261234 CA1229183 |
672 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA1229184 rs772431302 |
672 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs775580997 CA1229185 |
673 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs927740144 CA31409246 |
673 | P>S | No |
ClinGen Ensembl |
|
|
CA343085552 rs1451856103 |
674 | G>D | No |
ClinGen TOPMed |
|
|
rs747252677 CA1229186 |
674 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 674 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315869094 CA343088991 |
677 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs370231009 CA1229209 |
677 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1229210 rs748263366 |
678 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1189390609 CA343089043 |
680 | V>I | No |
ClinGen gnomAD |
|
|
COSM399396 CA343089065 rs1266932600 |
682 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1229211 rs769939276 |
682 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1431660959 CA343089082 |
683 | I>V | No |
ClinGen gnomAD |
|
|
CA343089128 rs1161218138 |
685 | E>K | No |
ClinGen TOPMed |
|
|
CA343089185 rs1441188990 |
686 | F>L | No |
ClinGen TOPMed |
|
|
CA343089213 rs1408409385 |
688 | R>K | No |
ClinGen gnomAD |
|
|
rs773283748 CA1229213 |
689 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs770685290 CA1229214 |
689 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773283748 CA343089232 |
689 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1229215 rs774170552 |
691 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA343089463 rs1404985537 |
696 | M>I | No |
ClinGen gnomAD |
|
|
CA31419201 rs1048227303 |
696 | M>V | No |
ClinGen gnomAD |
|
|
CA1229217 rs767187961 |
701 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1248951676 CA343089608 |
702 | L>W | No |
ClinGen TOPMed |
|
|
CA343089617 rs1223031804 |
703 | N>S | No |
ClinGen TOPMed |
|
|
rs752296176 CA343089629 |
704 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752296176 CA1229218 |
704 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31419279 rs763235831 |
712 | V>A | No |
ClinGen Ensembl |
|
|
CA1229222 rs369024246 |
712 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141127612 CA1229223 |
714 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343089873 rs1370988894 |
719 | S>F | No |
ClinGen TOPMed |
|
|
rs748316865 CA1229227 |
722 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM77903 rs781581187 CA1229226 |
722 | M>V | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 725 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778036796 CA1229248 |
727 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 729 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343090805 rs1454527494 |
731 | A>T | No |
ClinGen gnomAD |
|
|
rs1306906476 CA343090879 |
735 | M>K | No |
ClinGen gnomAD |
|
|
rs1348669151 CA343090897 |
736 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA343090921 rs1471424067 |
739 | D>E | No |
ClinGen TOPMed |
|
|
rs1162178181 CA343090915 |
739 | D>N | No |
ClinGen TOPMed |
|
|
CA1229251 rs778923372 |
743 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA343090976 rs1242978268 |
747 | D>N | No |
ClinGen gnomAD |
|
|
rs1242978268 CA343090977 |
747 | D>Y | No |
ClinGen gnomAD |
|
|
rs1185966421 CA343090985 |
748 | R>Q | No |
ClinGen gnomAD |
|
|
CA1229252 rs745724831 |
748 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 751 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1229253 rs771913118 |
752 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1229255 rs746705183 |
754 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768330714 CA1229256 |
755 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1572166966 CA343091047 |
757 | L>R | No |
ClinGen Ensembl |
|
|
rs746579186 CA31420583 |
757 | L>V | No |
ClinGen Ensembl |
|
|
CA1229257 rs776102053 |
758 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs369473335 CA1229258 |
764 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 765 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572167015 CA343091101 |
765 | N>T | No |
ClinGen Ensembl |
|
|
rs140466531 CA1229262 |
774 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753077604 CA1229263 |
775 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31420937 rs758489214 |
777 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1229282 rs764298238 |
777 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs868258039 CA31420938 |
780 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1229285 rs765398426 |
781 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760792720 CA31420942 |
783 | Y>C | No |
ClinGen Ensembl |
|
|
CA1229287 rs750535345 |
787 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs750535345 CA1229286 |
787 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs751434646 CA1229289 |
793 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs780839739 CA1229291 |
801 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA31420973 rs981638884 |
803 | D>G | No |
ClinGen Ensembl |
|
|
CA343092410 rs1207575435 |
806 | I>L | No |
ClinGen TOPMed |
|
|
COSM899158 CA343092444 rs1048221901 |
808 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1229308 rs766445617 |
808 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1259600745 COSM3802745 COSM174721 CA343092531 |
810 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs781077170 CA1229311 |
814 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 819 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572177015 CA343092670 |
819 | T>P | No |
ClinGen Ensembl |
|
|
CA31425202 rs867358719 |
822 | V>I | No |
ClinGen Ensembl |
|
|
rs1363296201 CA343092727 |
824 | A>V | No |
ClinGen gnomAD |
|
|
CA343092740 rs1404363734 |
826 | F>V | No |
ClinGen gnomAD |
|
|
rs1231202951 CA343092852 |
832 | A>S | No |
ClinGen TOPMed |
|
|
COSM677306 rs770632797 CA1229316 |
835 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778552117 CA1229317 |
838 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA1229318 rs778552117 |
838 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs769074638 CA1229319 |
838 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1229320 rs777149256 |
839 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1229339 rs757867920 |
840 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs748687203 CA343093976 |
841 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs748687203 CA1229341 |
841 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1229340 rs781558113 |
841 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396630981 CA343094012 |
844 | G>S | No |
ClinGen gnomAD |
|
|
CA343094124 rs771169297 |
850 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1229345 rs771169297 |
850 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367578427 CA1229344 |
850 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1229346 rs774504428 |
852 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA343094176 rs1303210677 |
853 | E>D | No |
ClinGen gnomAD |
|
|
CA343094182 rs372173095 |
854 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1229347 rs372173095 |
854 | N>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA343094191 rs1226610172 |
855 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1229348 rs767564978 |
858 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1229350 rs760647899 |
860 | E>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q58WW2
8 regional properties for Q58WW2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| binding_site | IQ motif, EF-hand binding site | 676 - 703 | IPR000048 |
| repeat | WD40 repeat | 40 - 79 | IPR001680-1 |
| repeat | WD40 repeat | 82 - 124 | IPR001680-2 |
| repeat | WD40 repeat | 130 - 170 | IPR001680-3 |
| repeat | WD40 repeat | 184 - 220 | IPR001680-4 |
| repeat | WD40 repeat | 238 - 281 | IPR001680-5 |
| repeat | WD40 repeat | 706 - 747 | IPR001680-6 |
| repeat | WD40 repeat | 750 - 789 | IPR001680-7 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cul4-RING E3 ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul4 family and a RING domain protein form the catalytic core; substrate specificity is conferred by an adaptor protein. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6NGE4 | DCAF8L1 | DDB1- and CUL4-associated factor 8-like protein 1 | Homo sapiens (Human) | PR |
| P0C7V8 | DCAF8L2 | DDB1- and CUL4-associated factor 8-like protein 2 | Homo sapiens (Human) | PR |
| Q5TAQ9 | DCAF8 | DDB1- and CUL4-associated factor 8 | Homo sapiens (Human) | PR |
| Q9DC22 | Dcaf6 | DDB1- and CUL4-associated factor 6 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRGGSYPHL | LWDVRKRSLG | LEDPSRLRSR | YLGRREFIQR | LKLEATLNVH | DGCVNTICWN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DTGEYILSGS | DDTKLVISNP | YSRKVLTTIR | SGHRANIFSA | KFLPCTNDKQ | IVSCSGDGVI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FYTNVEQDAE | TNRQCQFTCH | YGTTYEIMTV | PNDPYTFLSC | GEDGTVRWFD | TRIKTSCTKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DCKDDILINC | RRAATSVAIC | PPIPYYLAVG | CSDSSVRIYD | RRMLGTRATG | NYAGRGTTGM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VARFIPSHLN | NKSCRVTSLC | YSEDGQEILV | SYSSDYIYLF | DPKDDTAREL | KTPSAEERRE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELRQPPVKRL | RLRGDWSDTG | PRARPESERE | RDGEQSPNVS | LMQRMSDMLS | RWFEEASEVA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QSNRGRGRSR | PRGGTSQSDI | STLPTVPSSP | DLEVSETAME | VDTPAEQFLQ | PSTSSTMSAQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AHSTSSPTES | PHSTPLLSSP | DSEQRQSVEA | SGHHTHHQSD | NNNEKLSPKP | GTGEPVLSLH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YSTEGTTTST | IKLNFTDEWS | SIASSSRGIG | SHCKSEGQEE | SFVPQSSVQP | PEGDSETKAP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EESSEDVTKY | QEGVSAENPV | ENHINITQSD | KFTAKPLDSN | SGERNDLNLD | RSCGVPEESA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SSEKAKEPET | SDQTSTESAT | NENNTNPEPQ | FQTEATGPSA | HEETSTRDSA | LQDTDDSDDD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PVLIPGARYR | AGPGDRRSAV | ARIQEFFRRR | KERKEMEELD | TLNIRRPLVK | MVYKGHRNSR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TMIKEANFWG | ANFVMSGSDC | GHIFIWDRHT | AEHLMLLEAD | NHVVNCLQPH | PFDPILASSG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IDYDIKIWSP | LEESRIFNRK | LADEVITRNE | LMLEETRNTI | TVPASFMLRM | LASLNHIRAD |
| 850 | |||||
| RLEGDRSEGS | GQENENEDEE |