Q7Z4V5
PR
Gene name |
HDGFL2 |
Protein name |
Hepatoma-derived growth factor-related protein 2 |
Names |
HDGF-related protein 2, HRP-2, Hepatoma-derived growth factor 2, HDGF-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84717 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for Q7Z4V5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3EAE | X-ray | 224 A | A/B | 1-93 | PDB |
| 3QBY | X-ray | 195 A | A/B/C | 1-93 | PDB |
| 3QJ6 | X-ray | 230 A | A | 1-93 | PDB |
| 6T3I | NMR | - | A | 469-549 | PDB |
| AF-Q7Z4V5-F1 | Predicted | AlphaFoldDB |
625 variants for Q7Z4V5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs748057837 CA9098585 |
2 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9098586 rs769835440 |
3 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403430665 rs1459381755 |
4 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403430664 rs1459381755 |
4 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403430663 rs1459381755 |
4 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs559662292 CA9098587 |
4 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759298881 CA304502431 |
8 | G>R | No |
ClinGen ExAC |
|
|
rs759298881 CA9098591 |
8 | G>W | No |
ClinGen ExAC |
|
|
rs767969596 CA9098592 |
10 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA9098593 rs753167547 |
11 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1334502180 CA403430730 |
14 | K>R | No |
ClinGen gnomAD |
|
|
rs1270047717 CA403430765 |
18 | Y>* | No |
ClinGen gnomAD |
|
|
CA403430762 rs1304810865 |
18 | Y>C | No |
ClinGen TOPMed |
|
|
CA403430761 rs1304810865 |
18 | Y>S | No |
ClinGen TOPMed |
|
|
CA403430772 rs1599692750 |
20 | H>N | No |
ClinGen Ensembl |
|
|
CA403430775 rs1599692751 |
20 | H>P | No |
ClinGen Ensembl |
|
|
CA403430797 rs1387721141 |
23 | A>S | No |
ClinGen TOPMed |
|
| rs1373330005 | 25 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs576541957 CA304504826 |
28 | I>V | No |
ClinGen 1000Genomes |
|
|
rs771724507 CA304504831 |
29 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771724507 CA9098647 |
29 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403431727 rs1277798090 |
32 | A>D | No |
ClinGen gnomAD |
|
|
rs935498096 CA304504851 |
32 | A>S | No |
ClinGen gnomAD |
|
|
rs935498096 CA304504849 |
32 | A>T | No |
ClinGen gnomAD |
|
|
CA304504853 rs747342375 |
37 | P>A | No |
ClinGen Ensembl |
|
|
rs1220264057 CA403431758 |
37 | P>H | No |
ClinGen gnomAD |
|
|
CA403431767 rs1280315132 |
38 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA304504856 rs893881356 |
41 | P>S | No |
ClinGen Ensembl |
|
|
rs1484894946 CA403431803 |
43 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 46 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9098651 rs201453622 |
50 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403431899 rs1440239068 |
56 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 56 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9098682 rs779604052 |
59 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212703527 CA403431919 |
59 | F>S | No |
ClinGen gnomAD |
|
|
CA403431927 rs1349644954 |
60 | P>L | No |
ClinGen TOPMed |
|
|
rs751098546 CA9098683 |
60 | P>S | No |
ClinGen ExAC |
|
|
rs1270685195 CA403431934 |
61 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9098684 rs754523230 |
62 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098685 rs780657964 |
63 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9098686 rs376712241 |
63 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1426490022 CA403431954 |
64 | C>F | No |
ClinGen gnomAD |
|
|
rs1280684102 CA403431950 |
64 | C>R | No |
ClinGen TOPMed |
|
|
rs770112385 CA9098687 |
67 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1189424583 CA403431976 |
67 | K>T | No |
ClinGen gnomAD |
|
|
CA9098689 rs749777732 |
69 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs367714402 CA9098690 |
70 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403432015 rs1289960501 |
73 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1289960501 CA403432014 |
73 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9098693 rs376780327 |
76 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9098694 rs775538219 |
78 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403432054 rs775538219 |
78 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541672770 CA9098697 |
86 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599696731 CA403432120 |
87 | N>T | No |
ClinGen Ensembl |
|
|
CA9098698 rs762980822 |
88 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1486415809 CA403432146 |
91 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 95 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185764004 CA9098701 |
96 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs185764004 CA9098702 |
96 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs185764004 CA9098703 |
96 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1251022640 CA403434548 |
101 | S>F | No |
ClinGen gnomAD |
|
|
CA304518103 rs968340607 |
102 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403434574 rs1276207519 |
103 | S>G | No |
ClinGen TOPMed |
|
|
CA403434578 rs1231601299 |
103 | S>N | No |
ClinGen TOPMed |
|
|
CA403434590 rs1192314177 |
104 | E>K | No |
ClinGen gnomAD |
|
|
rs889772861 CA304518133 |
105 | A>V | No |
ClinGen TOPMed |
|
|
CA403434638 rs1333210755 |
107 | E>G | No |
ClinGen TOPMed |
|
|
rs1410939109 CA403434631 |
107 | E>K | No |
ClinGen gnomAD |
|
|
CA403434650 rs1169307799 |
108 | A>T | No |
ClinGen gnomAD |
|
|
rs1599711996 CA403434662 |
109 | N>T | No |
ClinGen Ensembl |
|
|
rs780281020 CA9098729 |
110 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098731 rs768872801 |
111 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098732 rs147061912 |
112 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs962845033 CA304518141 |
113 | G>R | No |
ClinGen TOPMed |
|
|
CA403434714 rs962845033 |
113 | G>S | No |
ClinGen TOPMed |
|
|
rs994373802 CA304518144 |
113 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403434751 rs918976256 |
116 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA304518161 rs918976256 |
116 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs375365209 CA304518169 |
117 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215828097 CA403434757 |
117 | D>N | No |
ClinGen gnomAD |
|
|
rs770607212 CA9098734 |
118 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304518196 rs866810200 |
119 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs927243971 CA304518191 |
119 | D>Y | No |
ClinGen TOPMed |
|
|
rs1475927267 CA403434814 |
120 | D>E | No |
ClinGen gnomAD |
|
|
rs943059229 CA304518232 |
120 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs943059229 CA304518205 |
120 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403434819 rs1186349063 |
121 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403434840 rs1417841194 |
122 | D>A | No |
ClinGen gnomAD |
|
|
CA403434847 rs1475961079 |
122 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs759386156 CA9098736 |
123 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774255953 CA9098735 |
123 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA304518247 rs148098363 |
125 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9098737 rs148098363 |
125 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs914269467 | 125 | V>S | Variant assessed as Somatic; 0.0001362 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416420889 CA403434874 |
126 | M>I | No |
ClinGen TOPMed |
|
|
CA403434880 rs1345768617 |
127 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760126562 CA9098739 |
128 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304518255 rs998272539 |
130 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1294197515 CA403434915 |
131 | V>I | No |
ClinGen gnomAD |
|
|
CA304518284 rs756983810 |
133 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098742 rs756983810 |
133 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304518287 rs1006872394 |
136 | A>T | No |
ClinGen TOPMed |
|
|
CA9098743 rs765507022 |
137 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9098745 rs375310458 |
138 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370846153 CA304518300 |
138 | D>N | No |
ClinGen ESP gnomAD |
|
|
rs1266619493 CA403435022 |
139 | R>K | No |
ClinGen TOPMed |
|
|
CA403435033 rs1188201547 |
140 | M>K | No |
ClinGen gnomAD |
|
|
rs1063176 CA304518317 |
141 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1063176 CA304518314 |
141 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403435054 rs1599712306 |
142 | S>G | No |
ClinGen Ensembl |
|
|
CA9098746 rs367904154 |
143 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403435130 rs1316149305 |
146 | S>A | No |
ClinGen gnomAD |
|
|
CA403435158 rs1360672912 |
147 | D>E | No |
ClinGen gnomAD |
|
|
CA403435188 rs1415240177 |
149 | S>G | No |
ClinGen gnomAD |
|
|
rs1033588605 CA304518349 |
149 | S>N | No |
ClinGen TOPMed |
|
|
rs1599712357 CA403435198 |
149 | S>R | No |
ClinGen Ensembl |
|
|
rs755075586 CA9098748 |
150 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs866600441 CA304518366 |
151 | D>N | No |
ClinGen gnomAD |
|
|
CA9098749 rs563651004 |
152 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 157 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403435355 rs1223657849 |
158 | K>M | No |
ClinGen gnomAD |
|
|
CA403435353 rs1223657849 |
158 | K>R | No |
ClinGen gnomAD |
|
|
rs371752768 CA9098750 |
159 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1212092323 CA403435384 |
160 | P>L | No |
ClinGen gnomAD |
|
|
rs929021681 CA304518386 |
161 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403435404 rs1457525818 |
162 | L>P | No |
ClinGen TOPMed |
|
|
CA403436120 rs1599715075 |
164 | M>R | No |
ClinGen Ensembl |
|
|
CA403436136 rs373051908 |
165 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9098767 rs375013451 |
165 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373051908 CA9098766 |
165 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9098771 rs781039084 |
167 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098770 rs778001615 |
167 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs781039084 CA9098772 |
167 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 169 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599715144 CA403436241 |
171 | R>Q | No |
ClinGen Ensembl |
|
|
rs1044962876 CA304520699 |
173 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9098774 rs369190777 |
173 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479548238 CA403436291 |
174 | S>P | No |
ClinGen TOPMed |
|
|
rs768648130 CA9098775 |
175 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769213342 CA9098778 |
176 | D>E | No |
ClinGen ExAC |
|
|
rs761332806 CA9098777 |
176 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9098779 rs199677808 |
177 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1193691533 CA403436361 |
178 | D>H | No |
ClinGen gnomAD |
|
|
CA403436384 rs1385956769 |
179 | Q>R | No |
ClinGen gnomAD |
|
|
CA9098780 rs762741552 |
180 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs376151917 CA304520731 |
182 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376151917 CA9098782 |
182 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1019404524 CA304520736 |
186 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9098787 rs756177228 |
188 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1319344221 CA403436499 |
188 | E>Q | No |
ClinGen gnomAD |
|
|
CA9098788 rs76043051 |
190 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757533267 CA9098790 |
193 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 194 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754785227 CA9098793 |
196 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403436623 rs1178512806 |
197 | E>K | No |
ClinGen TOPMed |
|
|
rs748070612 CA9098795 |
200 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA304520777 rs769323197 |
200 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098797 rs772652581 |
201 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1478806248 TCGA novel CA403436759 |
204 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA403436776 rs1418227543 |
206 | P>R | No |
ClinGen gnomAD |
|
|
CA403436774 rs1363766810 |
206 | P>S | No |
ClinGen gnomAD |
|
|
rs367750750 CA9098818 |
207 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745554286 CA9098819 |
208 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1300777871 CA403436805 |
210 | A>V | No |
ClinGen gnomAD |
|
|
rs371700539 CA9098820 |
211 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775777503 CA9098821 |
212 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA9098823 rs543970158 |
213 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9098824 rs374961834 |
213 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9098822 rs543970158 |
213 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9098826 rs568456350 |
214 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098828 rs201430193 |
215 | P>S | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9098830 rs752364639 |
216 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9098829 rs372036338 |
216 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9098832 rs777803071 |
217 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753857401 CA9098833 |
218 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098835 rs778613432 |
219 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375153544 CA9098834 |
219 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403436849 rs1244502072 |
220 | L>P | No |
ClinGen TOPMed |
|
|
rs745503167 CA9098836 |
221 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 222 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599715550 CA403436861 |
222 | G>V | No |
ClinGen Ensembl |
|
|
rs369359811 CA403436862 |
223 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9098838 rs371705151 |
223 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9098839 rs371705151 |
223 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369359811 CA9098837 |
223 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9098840 rs769090414 |
224 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA304520947 rs896964573 |
224 | K>R | No |
ClinGen Ensembl |
|
|
rs777086544 CA9098841 |
225 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 225 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403436878 rs1442934895 |
226 | K>E | No |
ClinGen gnomAD |
|
|
rs1304140687 CA403436884 |
226 | K>N | No |
ClinGen TOPMed gnomAD |
|
| rs1219916331 | 226 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770216658 CA9098861 |
227 | K>* | No |
ClinGen ExAC |
|
|
CA403437984 rs762888839 |
228 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762888839 CA9098863 |
228 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9098865 rs774404380 |
229 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403437990 rs774404380 |
229 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1416893560 CA403437985 |
229 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403437987 rs1416893560 |
229 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA403438001 rs978260856 |
230 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA304522660 rs978260856 |
230 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9098868 rs776635972 |
231 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1317862314 CA403438010 |
231 | A>S | No |
ClinGen gnomAD |
|
|
CA403438024 rs1284349896 |
232 | S>P | No |
ClinGen gnomAD |
|
|
CA403438029 rs1486424884 |
232 | S>Y | No |
ClinGen gnomAD |
|
|
CA403438043 rs1471556085 |
233 | D>G | No |
ClinGen gnomAD |
|
|
CA403438035 rs1236321945 |
233 | D>N | No |
ClinGen gnomAD |
|
|
CA403438038 rs1236321945 |
233 | D>Y | No |
ClinGen gnomAD |
|
|
rs765208799 CA304522675 |
235 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098870 rs765208799 |
235 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403438081 rs1156570233 |
236 | S>C | No |
ClinGen gnomAD |
|
|
rs998161634 CA304522684 |
237 | K>N | No |
ClinGen Ensembl |
|
|
CA403438094 rs1313783787 |
238 | A>D | No |
ClinGen gnomAD |
|
|
CA9098872 rs549209819 |
238 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403438095 rs1315362591 |
239 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA304522693 rs374944014 |
242 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 243 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304522698 rs867391057 |
243 | A>T | No |
ClinGen Ensembl |
|
|
CA403438138 rs1281753991 |
245 | P>L | No |
ClinGen gnomAD |
|
|
CA403438152 rs1374620503 |
247 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 249 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403438178 rs1284238726 |
250 | M>V | No |
ClinGen gnomAD |
|
|
CA403438202 rs1423542864 |
251 | A>E | No |
ClinGen TOPMed |
|
|
CA403438206 rs1423542864 |
251 | A>V | No |
ClinGen TOPMed |
|
|
CA9098873 rs765959186 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211139397 CA403438207 |
252 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403438225 rs1232986233 |
253 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA304522716 rs1030097444 |
253 | S>P | No |
ClinGen gnomAD |
|
|
CA9098875 rs369862181 |
254 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403438236 rs1176719647 |
254 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403438244 rs1599718797 |
255 | S>P | No |
ClinGen Ensembl |
|
|
CA403438262 rs1454603834 |
256 | S>A | No |
ClinGen gnomAD |
|
|
CA403438259 rs1454603834 |
256 | S>P | No |
ClinGen gnomAD |
|
|
rs1412999722 CA403438298 |
259 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA304522754 rs1009476743 |
260 | S>C | No |
ClinGen TOPMed |
|
|
CA9098885 rs749840571 |
263 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA403438342 rs770893579 |
263 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098886 rs770893579 |
263 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098887 rs770893579 |
263 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098888 rs752382584 |
265 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403438356 rs752382584 |
265 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403438359 rs752382584 |
265 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251382765 CA403438385 |
267 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA403438403 rs1456979518 |
268 | V>G | No |
ClinGen gnomAD |
|
|
CA403438395 rs1273031553 |
268 | V>M | No |
ClinGen gnomAD |
|
|
rs1599718962 CA403438411 |
269 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 269 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562193322 CA304522793 |
270 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1267033900 CA403438440 |
271 | K>N | No |
ClinGen TOPMed |
|
|
rs1202127299 CA403438469 |
273 | P>L | No |
ClinGen TOPMed |
|
|
CA403438481 rs1254861569 |
274 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403438491 rs1468730045 |
275 | R>T | No |
ClinGen gnomAD |
|
|
rs772355957 CA9098890 |
276 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1375747133 CA403438505 |
276 | G>V | No |
ClinGen gnomAD |
|
|
rs775867906 CA9098891 |
278 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA403438539 rs1169883219 |
279 | P>S | No |
ClinGen gnomAD |
|
|
CA9098910 rs150536528 |
280 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA9098913 rs769456613 |
281 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400638309 CA403438582 |
281 | E>Q | No |
ClinGen TOPMed |
|
|
rs1294518222 CA403438600 |
283 | P>S | No |
ClinGen gnomAD |
|
|
rs200731789 CA9098915 |
284 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403438618 rs1263680535 |
285 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs2288931 CA9098916 |
285 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1205453437 CA403438627 |
286 | K>R | No |
ClinGen gnomAD |
|
|
CA403438641 rs1285082256 |
287 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1040282892 CA304522967 |
288 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1424541687 CA403438668 |
290 | R>L | No |
ClinGen gnomAD |
|
|
rs1424541687 CA403438666 |
290 | R>Q | No |
ClinGen gnomAD |
|
|
CA403438665 rs1259692761 |
290 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403438678 rs1187427202 |
291 | K>T | No |
ClinGen gnomAD |
|
|
rs767050932 CA9098919 |
292 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752322865 CA9098920 |
294 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760375825 CA9098921 |
295 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs764361519 CA9098922 |
296 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974051714 CA304522989 |
297 | P>L | No |
ClinGen TOPMed |
|
|
rs934052637 CA304523007 |
298 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA304523012 rs560030113 |
299 | S>C | No |
ClinGen Ensembl |
|
|
rs919961927 CA304523021 |
300 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757576775 CA9098924 |
301 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs779428581 CA9098925 |
303 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA403438802 rs1308188790 |
304 | D>G | No |
ClinGen gnomAD |
|
|
rs368780587 CA304523030 |
305 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs541194421 CA9098953 |
307 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541194421 CA9098952 |
307 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403438874 rs1312905260 |
307 | S>T | No |
ClinGen gnomAD |
|
|
CA403438889 rs1219377913 |
308 | D>E | No |
ClinGen gnomAD |
|
|
CA9098954 rs745799781 |
308 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304523195 CA403438900 rs866430061 |
309 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1187402184 CA403438896 |
309 | E>G | No |
ClinGen TOPMed |
|
|
rs1224448436 CA403438931 |
312 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1224448436 CA403438929 |
312 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA304523216 rs866627280 |
316 | W>C | No |
ClinGen Ensembl |
|
|
rs1210769810 CA403438974 |
316 | W>S | No |
ClinGen TOPMed |
|
|
rs1189073518 CA403438989 |
317 | K>M | No |
ClinGen gnomAD |
|
|
rs1362251495 CA403438993 |
318 | R>G | No |
ClinGen TOPMed |
|
|
CA9098957 rs746479502 |
318 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403439005 rs768083352 |
319 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098958 rs768083352 |
319 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098959 rs776316604 |
320 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304523245 rs1018908486 |
321 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs761425096 CA9098960 |
322 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA403439033 rs1330698344 |
322 | A>V | No |
ClinGen TOPMed |
|
|
CA403439040 rs1291978426 |
323 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403439037 rs1406815588 |
323 | R>W | No |
ClinGen TOPMed |
|
|
CA304523263 rs950384676 |
325 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403439056 rs1277582666 |
325 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA304523280 rs910101282 |
326 | E>K | No |
ClinGen TOPMed |
|
|
rs1230523834 CA403439066 |
326 | E>V | No |
ClinGen gnomAD |
|
|
rs543492320 CA304523292 |
327 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs543492320 CA304523287 |
327 | L>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs773784159 CA9098962 |
328 | E>K | No |
ClinGen ExAC |
|
|
CA304523300 rs974335741 |
329 | A>T | No |
ClinGen TOPMed |
|
|
CA403439101 rs1488377453 |
330 | R>Q | No |
ClinGen gnomAD |
|
|
CA403439108 rs1599719665 |
331 | R>Q | No |
ClinGen Ensembl |
|
|
rs551002920 CA304523311 |
331 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1192493498 CA403439117 |
332 | R>L | No |
ClinGen gnomAD |
|
|
CA403439123 rs951411616 |
333 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA304523316 rs951411616 |
333 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1422008685 CA403439166 |
337 | E>A | No |
ClinGen gnomAD |
|
|
rs1160195278 CA403439169 |
338 | E>K | No |
ClinGen gnomAD |
|
|
CA403439185 rs1420524511 |
340 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9098965 rs556590987 |
340 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403439190 rs1297892451 |
341 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1358670895 CA403439191 |
341 | R>H | No |
ClinGen gnomAD |
|
|
CA403439203 rs934212134 |
343 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA304523339 rs934212134 |
343 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs767539131 CA9098969 |
347 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892557055 CA304523364 |
348 | E>D | No |
ClinGen TOPMed |
|
|
rs1379035910 CA403439348 |
351 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1379035910 CA403439349 |
351 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403439391 rs1354939902 |
353 | R>S | No |
ClinGen gnomAD |
|
|
CA403439402 rs1568214722 |
354 | R>H | No |
ClinGen Ensembl |
|
|
CA9098972 rs777975563 |
355 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs924261485 CA304523372 |
358 | D>G | No |
ClinGen TOPMed |
|
|
CA403439472 rs1483678425 |
359 | R>C | No |
ClinGen TOPMed |
|
|
CA9098973 rs60970496 |
359 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403439477 rs60970496 |
359 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403439489 rs1210148204 |
360 | G>E | No |
ClinGen gnomAD |
|
|
rs1236417694 CA403439513 |
361 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs758211864 CA9098974 |
362 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA403439559 rs1380680027 |
364 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1380680027 CA403439557 |
364 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA304523394 rs934329074 |
364 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403439656 rs1406006207 |
370 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9098976 rs372321802 |
371 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1334844357 CA403439672 |
371 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403439669 rs1334844357 |
371 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403439706 rs1334026177 |
372 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1599719917 CA403439698 |
372 | D>G | No |
ClinGen Ensembl |
|
|
CA403439680 rs1446438208 |
372 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403439709 rs1293550290 |
373 | E>K | No |
ClinGen gnomAD |
|
|
rs768192749 CA9098977 |
374 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA304523403 rs1033629677 |
375 | R>T | No |
ClinGen Ensembl |
|
|
CA403439746 rs1007755174 |
376 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA304523404 rs1007755174 |
376 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403439768 rs1180681585 |
378 | D>N | No |
ClinGen TOPMed |
|
|
CA304523408 rs896301716 |
378 | D>V | No |
ClinGen Ensembl |
|
|
CA9098978 rs776065584 |
380 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205597365 CA403439801 |
381 | V>A | No |
ClinGen TOPMed |
|
|
rs769508379 CA9098980 |
382 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098981 rs190117333 |
384 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190117333 CA304523436 |
384 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA304523429 rs1026442246 |
384 | R>W | No |
ClinGen Ensembl |
|
|
rs565996046 CA9098982 |
385 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209127988 CA403439839 |
385 | G>R | No |
ClinGen TOPMed |
|
|
rs1200423780 CA403439850 |
386 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403439852 rs1200423780 |
386 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA403439854 rs1310303464 |
386 | R>H | No |
ClinGen TOPMed |
|
|
CA9098983 rs766886019 |
388 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA304523462 rs1005813052 |
389 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs760017272 CA9098985 |
390 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1599720031 CA403439890 |
390 | G>D | No |
ClinGen Ensembl |
|
|
rs752650962 CA403439900 |
391 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752650962 CA9098987 |
391 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9098986 rs767630158 |
391 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403439905 rs1320884352 |
392 | G>D | No |
ClinGen TOPMed |
|
|
CA403439912 rs1401598297 |
393 | P>H | No |
ClinGen gnomAD |
|
|
rs1455021823 CA403439910 |
393 | P>S | No |
ClinGen TOPMed |
|
|
CA9098988 rs756199020 |
394 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403439922 rs756199020 |
394 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599720084 CA403439959 |
398 | D>E | No |
ClinGen Ensembl |
|
|
CA403439956 rs1247475905 |
398 | D>G | No |
ClinGen TOPMed |
|
|
CA9098992 rs758160399 |
400 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403439970 rs1263504267 |
400 | E>K | No |
ClinGen TOPMed |
|
|
rs779873648 CA9098993 |
401 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219884104 CA403439982 |
401 | P>H | No |
ClinGen gnomAD |
|
|
CA304523517 rs921572487 |
402 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1258181887 CA403439987 |
402 | E>K | No |
ClinGen gnomAD |
|
|
CA9098994 rs751504637 |
403 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403440006 rs1363916774 |
404 | E>K | No |
ClinGen TOPMed |
|
|
CA403440007 rs1363916774 |
404 | E>Q | No |
ClinGen TOPMed |
|
|
CA403440019 rs1452029583 |
405 | L>P | No |
ClinGen gnomAD |
|
|
rs1036151697 CA304523537 |
405 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403440652 rs1162965501 |
409 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9099010 rs766195315 |
410 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs751249632 CA9099011 |
411 | K>R | No |
ClinGen ExAC |
|
|
rs754819527 CA9099012 |
413 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752716715 CA9099014 |
415 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752716715 CA403440782 |
415 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9099015 rs201827223 |
416 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs940963072 CA304526875 |
416 | P>S | No |
ClinGen TOPMed |
|
|
rs748941988 CA9099017 |
417 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242580817 CA403440864 |
419 | S>L | No |
ClinGen gnomAD |
|
|
rs1455069212 CA403440879 |
420 | S>T | No |
ClinGen Ensembl |
|
|
CA403440911 rs1488098433 |
422 | E>D | No |
ClinGen gnomAD |
|
|
rs1226448701 CA403440892 |
422 | E>K | No |
ClinGen gnomAD |
|
|
rs374507407 CA9099019 |
423 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA304526934 rs1050936621 |
423 | P>S | No |
ClinGen Ensembl |
|
|
CA9099020 rs746168539 |
424 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA304526974 rs944662729 |
428 | G>D | No |
ClinGen Ensembl |
|
|
CA403441105 rs1158856025 |
432 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA304526981 rs1044749468 |
433 | R>T | No |
ClinGen TOPMed |
|
|
rs1599722098 CA403441138 |
434 | V>G | No |
ClinGen Ensembl |
|
|
rs369666897 CA403441147 |
435 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373581575 CA9099024 |
435 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369666897 CA9099023 |
435 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568216070 CA403441172 |
436 | P>S | No |
ClinGen Ensembl |
|
|
CA304526995 rs777824560 |
437 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs998759249 CA304527018 |
437 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs765322338 CA9099027 |
437 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9099028 rs750684647 |
438 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749172152 CA304527037 |
439 | K>N | No |
ClinGen Ensembl |
|
|
CA403441631 rs1278078073 |
444 | P>H | No |
ClinGen TOPMed |
|
|
CA403441634 rs1278078073 |
444 | P>L | No |
ClinGen TOPMed |
|
|
CA403441639 rs1409803967 |
445 | V>M | No |
ClinGen gnomAD |
|
|
CA304528788 rs1026048262 |
446 | K>R | No |
ClinGen gnomAD |
|
|
rs1026048262 CA403441647 |
446 | K>T | No |
ClinGen gnomAD |
|
|
CA403441661 rs1351220779 |
447 | V>A | No |
ClinGen gnomAD |
|
|
rs557632925 CA304528793 |
449 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs182131576 CA304528789 |
449 | R>W | No |
ClinGen 1000Genomes gnomAD |
|
|
rs187761259 CA9099081 |
451 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764021006 CA9099080 |
451 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764649877 CA9099083 |
453 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761868487 CA9099082 |
453 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9099086 rs765970630 |
455 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs192383970 CA304528809 |
457 | F>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA304528820 rs568443961 |
458 | S>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA403441794 rs1374090184 |
459 | M>T | No |
ClinGen gnomAD |
|
|
rs755309497 CA9099088 |
460 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA403441800 rs1475392694 |
460 | D>N | No |
ClinGen gnomAD |
|
|
rs1416482378 CA403441832 |
462 | K>R | No |
ClinGen gnomAD |
|
|
CA403441842 rs547790923 |
463 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs547790923 CA9099089 |
463 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403441869 rs1401243853 |
465 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs367738394 CA9099112 |
469 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1484088888 CA403441994 |
469 | P>S | No |
ClinGen TOPMed |
|
|
rs779077438 CA9099114 |
471 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1308037983 CA403442056 |
473 | E>D | No |
ClinGen gnomAD |
|
|
rs1193000125 CA403442072 |
474 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs772487615 CA9099117 |
476 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs746091792 CA9099116 |
476 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA403442112 rs1265080375 |
478 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs550010720 CA9099118 |
485 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9099121 rs773228907 |
489 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770437093 CA403442250 |
491 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs770437093 CA9099123 |
491 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA403442738 rs1474606893 |
494 | K>N | No |
ClinGen TOPMed |
|
|
rs1243356042 CA403442745 |
495 | R>T | No |
ClinGen gnomAD |
|
|
rs767953393 CA304529808 |
498 | N>T | No |
ClinGen Ensembl |
|
|
CA403442783 rs1486144091 |
499 | A>V | No |
ClinGen gnomAD |
|
|
CA9099157 rs749134143 |
501 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9099158 rs757017910 |
502 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771625969 CA403442855 |
510 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771625969 CA9099161 |
510 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403442872 rs1161690244 |
513 | L>V | No |
ClinGen gnomAD |
|
|
rs547104569 CA9099164 |
519 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9099163 rs547104569 |
519 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413483415 CA403442984 |
527 | R>C | No |
ClinGen TOPMed |
|
|
CA9099196 rs764296647 |
528 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1346921852 CA403443030 |
530 | K>R | No |
ClinGen gnomAD |
|
|
CA403443046 rs1185355944 |
531 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA403443053 rs1188724603 |
532 | N>D | No |
ClinGen TOPMed |
|
|
rs758188882 CA9099198 |
534 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751472160 CA9099200 |
535 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA403443160 rs1216037549 |
539 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9099202 rs780788174 |
542 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs199605023 CA9099205 |
545 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs577671814 CA9099204 |
545 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9099208 rs771290586 |
548 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs367918025 CA9099212 |
549 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746330359 CA9099211 |
549 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA403443309 rs1599725979 |
550 | V>G | No |
ClinGen Ensembl |
|
|
rs1204172313 CA403443301 |
550 | V>I | No |
ClinGen gnomAD |
|
|
rs868134837 CA304530837 |
552 | G>D | No |
ClinGen Ensembl |
|
|
rs1366871532 CA403443325 |
552 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9099215 rs776879529 |
554 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1432876066 CA403443376 |
556 | E>K | No |
ClinGen gnomAD |
|
|
rs766145902 CA9099217 |
557 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9099218 rs766145902 |
557 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403443412 rs1599726029 |
558 | V>G | No |
ClinGen Ensembl |
|
|
CA9099221 rs752307260 |
560 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA403443461 rs574022188 |
560 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 560 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599726044 CA403443478 |
561 | V>G | No |
ClinGen Ensembl |
|
|
CA9099224 rs180870155 |
562 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9099223 rs777602462 |
562 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9099226 rs779272121 |
563 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403443529 rs1475321397 |
564 | A>G | No |
ClinGen gnomAD |
|
|
rs772625626 CA9099228 |
566 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9099227 rs746214811 |
566 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9099230 rs775953812 |
568 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9099231 rs747131616 |
569 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768680861 CA9099232 |
570 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs528707418 CA9099233 |
570 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs944194405 CA304530953 |
572 | E>G | No |
ClinGen TOPMed |
|
|
rs766090029 CA9099235 |
572 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304530974 rs1042930320 |
574 | K>E | No |
ClinGen TOPMed |
|
|
CA403443687 rs1599726178 |
575 | L>R | No |
ClinGen Ensembl |
|
|
CA304531064 rs1001348725 |
577 | G>R | No |
ClinGen TOPMed |
|
|
CA403443736 rs1349913096 |
580 | L>R | No |
ClinGen TOPMed |
|
|
rs200976909 CA304531095 |
580 | L>V | No |
ClinGen Ensembl |
|
|
CA304531141 rs974553045 |
582 | G>E | No |
ClinGen TOPMed |
|
|
rs372794408 CA304531130 |
582 | G>R | No |
ClinGen ESP |
|
|
CA304531146 rs1012210187 |
583 | E>G | No |
ClinGen Ensembl |
|
|
rs1024825416 CA304531153 |
585 | A>P | No |
ClinGen TOPMed |
|
|
rs1454846783 CA403443850 |
586 | P>L | No |
ClinGen gnomAD |
|
|
CA403443844 rs774264404 |
586 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9099247 rs774264404 |
586 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 587 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 587 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs983417307 CA304531167 |
588 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs767607416 CA9099249 |
590 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1453619118 CA403443952 |
592 | D>E | No |
ClinGen gnomAD |
|
|
rs1312343665 CA403443974 |
594 | P>S | No |
ClinGen gnomAD |
|
|
rs1338950678 CA403443989 |
595 | S>G | No |
ClinGen gnomAD |
|
|
rs1241226236 CA403443998 |
595 | S>N | No |
ClinGen gnomAD |
|
|
rs1264909195 CA403444015 |
596 | T>I | No |
ClinGen gnomAD |
|
|
CA9099275 rs747402399 |
600 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA403444778 rs1202501525 |
601 | P>L | No |
ClinGen TOPMed |
|
|
CA403444803 rs1309675662 |
604 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403444800 rs1309675662 |
604 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9099277 rs755573744 |
605 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9099278 rs781533608 |
605 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1044092714 CA304532219 |
609 | Q>E | No |
ClinGen Ensembl |
|
|
CA9099280 rs769725568 |
609 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs201841861 CA9099282 |
610 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778081286 CA9099281 |
610 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA403444859 rs376976555 CA304532226 |
611 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9099283 rs376976555 |
611 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781568200 CA403444889 CA403444888 |
613 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428843612 CA403444884 |
613 | S>T | No |
ClinGen gnomAD |
|
|
CA9099285 rs760533965 |
614 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428078407 CA403444896 |
614 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1568219963 CA403444913 |
616 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 618 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748625705 CA9099289 |
619 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1292343694 CA403444954 |
620 | E>K | No |
ClinGen gnomAD |
|
|
rs1292343694 CA403444953 |
620 | E>Q | No |
ClinGen gnomAD |
|
|
CA9099292 rs750088233 |
622 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403444975 rs750088233 |
622 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304532265 rs1049343594 |
623 | R>Q | No |
ClinGen TOPMed |
|
|
rs770025134 CA9099293 |
623 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189023720 CA9099295 |
625 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1033728201 CA304532269 |
626 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403445026 rs1217821843 |
627 | E>D | No |
ClinGen TOPMed |
|
|
CA403445024 rs1262378314 |
627 | E>G | No |
ClinGen gnomAD |
|
|
CA403445016 rs1218764033 |
627 | E>K | No |
ClinGen gnomAD |
|
|
CA9099297 rs781740021 |
628 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9099299 rs753100507 |
629 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9099298 rs753100507 |
629 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1568220060 CA403445049 |
630 | R>S | No |
ClinGen Ensembl |
|
|
CA304532273 rs1007744527 |
631 | C>G | No |
ClinGen Ensembl |
|
|
CA9099300 rs777935887 |
633 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs376891678 CA403445122 |
638 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9099303 rs779255220 |
638 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs200105993 CA9099305 |
639 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200105993 CA304532289 |
639 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403445247 rs937446115 |
640 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1295616854 CA403445250 |
641 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1295616854 CA403445252 CA403445254 |
641 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403445262 rs1287030010 |
642 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9099351 rs761154027 |
642 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423819323 CA403445296 |
644 | G>C | No |
ClinGen TOPMed |
|
|
rs369317234 CA304532931 |
645 | P>A | No |
ClinGen TOPMed |
|
|
rs554573861 CA9099352 |
645 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369317234 CA304532934 |
645 | P>S | No |
ClinGen TOPMed |
|
|
CA403445331 rs1226046338 |
646 | D>G | No |
ClinGen gnomAD |
|
|
rs778394624 CA403445322 |
646 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304532935 rs778394624 |
646 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403445325 rs778394624 |
646 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1269134161 CA403445364 |
648 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1464769959 CA403445365 |
649 | R>G | No |
ClinGen gnomAD |
|
|
CA403445372 rs1207255209 |
649 | R>K | No |
ClinGen gnomAD |
|
|
CA304532936 rs868097317 |
650 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA304532937 rs868097317 |
650 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA304532939 rs895836905 |
651 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA403445408 rs895836905 |
651 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1568220778 CA403445419 |
652 | S>I | No |
ClinGen Ensembl |
|
|
rs1159881192 CA403445440 |
653 | D>A | No |
ClinGen gnomAD |
|
|
CA403445447 rs1462896463 |
653 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs368577824 CA403445432 |
653 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA304532947 rs368577824 |
653 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs540098055 CA403445449 |
654 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750522810 CA9099356 |
654 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9099357 rs750522810 |
654 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs540098055 CA9099355 |
654 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403445457 rs1338464046 |
655 | Q>E | No |
ClinGen gnomAD |
|
|
CA403445462 rs1404548217 |
655 | Q>R | No |
ClinGen gnomAD |
|
|
CA403445480 rs1363642131 |
656 | E>G | No |
ClinGen TOPMed |
|
|
CA9099358 rs766548369 |
657 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560271376 CA9099359 |
657 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560271376 CA304533013 |
657 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1289477212 CA403445532 |
658 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1289477212 CA403445528 |
658 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403445575 rs1329077636 |
660 | A>V | No |
ClinGen gnomAD |
|
|
rs757246847 CA9099363 |
661 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9099362 rs753630006 |
661 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253434697 CA403445594 |
662 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1599730151 CA403445591 |
662 | G>R | No |
ClinGen Ensembl |
|
|
CA304533097 rs889456040 |
663 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403445601 rs889456040 |
663 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 663 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889456040 CA403445599 |
663 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1250898612 CA403445619 |
664 | S>A | No |
ClinGen gnomAD |
|
|
rs117648883 CA9099364 |
664 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267380440 CA403445625 |
665 | E>K | No |
ClinGen TOPMed |
|
|
CA403445655 rs1196819667 |
667 | L>Q | No |
ClinGen TOPMed |
|
|
TCGA novel CA403445672 rs1038546208 |
668 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
rs1378060496 CA403445668 |
668 | D>G | No |
ClinGen gnomAD |
|
|
rs546333702 CA304533120 |
669 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1300300628 CA403445676 |
669 | E>A | No |
ClinGen TOPMed |
|
|
CA304533117 rs546333702 |
669 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs546333702 CA9099366 |
669 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403445683 rs1400368344 |
670 | E>K | No |
ClinGen gnomAD |
|
|
rs1020502406 CA304533126 |
671 | S>G | No |
ClinGen gnomAD |
No associated diseases with Q7Z4V5
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| double-stranded DNA binding | Binding to double-stranded DNA. |
| H3K27me3 modified histone binding | Binding to a histone H3 in which the lysine residue at position 27 has been modified by trimethylation. |
| H3K9me3 modified histone binding | Binding to a histone H3 in which the lysine residue at position 9 has been modified by trimethylation. |
| methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
| transcription coregulator activity | A transcription regulator activity that modulates the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coregulators 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. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA recombination | Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. |
| muscle organ development | The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| positive regulation of double-strand break repair via homologous recombination | Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| skeletal muscle tissue regeneration | The regrowth of skeletal muscle tissue to repair injured or damaged muscle fibers in the postnatal stage. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9XSK7 | HDGF | Hepatoma-derived growth factor | Bos taurus (Bovine) | PR |
| Q8MJG1 | PSIP1 | PC4 and SFRS1-interacting protein | Bos taurus (Bovine) | PR |
| Q66T72 | PSIP1 | PC4 and SFRS1-interacting protein | Felis catus (Cat) (Felis silvestris catus) | PR |
| Q5XXA9 | PSIP1 | Lens epithelium-derived growth factor | Gallus gallus (Chicken) | PR |
| P51858 | HDGF | Hepatoma-derived growth factor | Homo sapiens (Human) | PR |
| O75475 | PSIP1 | PC4 and SFRS1-interacting protein | Homo sapiens (Human) | PR |
| Q9Y3E1 | HDGFL3 | Hepatoma-derived growth factor-related protein 3 | Homo sapiens (Human) | PR |
| P51859 | Hdgf | Hepatoma-derived growth factor | Mus musculus (Mouse) | PR |
| Q99JF8 | Psip1 | PC4 and SFRS1-interacting protein | Mus musculus (Mouse) | PR |
| Q9JMG7 | Hdgfl3 | Hepatoma-derived growth factor-related protein 3 | Mus musculus (Mouse) | PR |
| Q812D1 | Psip1 | PC4 and SFRS1-interacting protein | Rattus norvegicus (Rat) | PR |
| Q8VHK7 | Hdgf | Hepatoma-derived growth factor | Rattus norvegicus (Rat) | PR |
| Q923W4 | Hdgfl3 | Hepatoma-derived growth factor-related protein 3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPHAFKPGDL | VFAKMKGYPH | WPARIDDIAD | GAVKPPPNKY | PIFFFGTHET | AFLGPKDLFP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YDKCKDKYGK | PNKRKGFNEG | LWEIQNNPHA | SYSAPPPVSS | SDSEAPEANP | ADGSDADEDD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EDRGVMAVTA | VTATAASDRM | ESDSDSDKSS | DNSGLKRKTP | ALKMSVSKRA | RKASSDLDQA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SVSPSEEENS | ESSSESEKTS | DQDFTPEKKA | AVRAPRRGPL | GGRKKKKAPS | ASDSDSKADS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DGAKPEPVAM | ARSASSSSSS | SSSSDSDVSV | KKPPRGRKPA | EKPLPKPRGR | KPKPERPPSS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SSSDSDSDEV | DRISEWKRRD | EARRRELEAR | RRREQEEELR | RLREQEKEEK | ERRRERADRG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EAERGSGGSS | GDELREDDEP | VKKRGRKGRG | RGPPSSSDSE | PEAELEREAK | KSAKKPQSSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TEPARKPGQK | EKRVRPEEKQ | QAKPVKVERT | RKRSEGFSMD | RKVEKKKEPS | VEEKLQKLHS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EIKFALKVDS | PDVKRCLNAL | EELGTLQVTS | QILQKNTDVV | ATLKKIRRYK | ANKDVMEKAA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EVYTRLKSRV | LGPKIEAVQK | VNKAGMEKEK | AEEKLAGEEL | AGEEAPQEKA | EDKPSTDLSA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PVNGEATSQK | GESAEDKEHE | EGRDSEEGPR | CGSSEDLHDS | VREGPDLDRP | GSDRQERERA |
| 670 | |||||
| RGDSEALDEE | S |