Q8N8U2
Gene name |
CDYL2 |
Protein name |
Chromodomain Y-like protein 2 |
Names |
CDY-like 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:124359 |
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

9 structures for Q8N8U2
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2MJ8 | NMR | - | A | 2-64 | PDB |
4HAE | X-ray | 200 A | A | 2-64 | PDB |
5JJZ | X-ray | 200 A | A | 2-66 | PDB |
6V2D | X-ray | 210 A | A/C/E/G/I/K | 2-64 | PDB |
6V2H | X-ray | 260 A | A/C/E/G/I/K | 2-62 | PDB |
6V3N | X-ray | 270 A | A/B | 2-64 | PDB |
6V8W | X-ray | 280 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X/Y/Z | 2-62 | PDB |
7SLW | X-ray | 230 A | A/B/C/D/E/F | 2-62 | PDB |
AF-Q8N8U2-F1 | Predicted | AlphaFoldDB |
479 variants for Q8N8U2
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA397168816 rs1343092483 |
5 | D>N | No |
ClinGen TOPMed |
|
rs779942191 CA8184899 |
6 | L>F | No |
ClinGen ExAC gnomAD |
|
rs760555163 CA396864389 |
9 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760555163 CA8184871 |
9 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1201402129 CA396864334 |
10 | E>D | No |
ClinGen TOPMed |
|
CA8184868 rs761503366 |
13 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768260824 CA8184866 |
16 | R>K | No |
ClinGen ExAC gnomAD |
|
CA396864060 rs1360291797 |
18 | N>S | No |
ClinGen gnomAD |
|
CA284152484 rs995943911 |
19 | K>Q | No |
ClinGen Ensembl |
|
CA284152480 rs1029937976 |
20 | K>T | No |
ClinGen TOPMed |
|
rs1264674884 CA396863997 |
21 | G>E | No |
ClinGen TOPMed |
|
rs897229367 CA284152477 |
21 | G>R | No |
ClinGen Ensembl |
|
TCGA novel | 22 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763347264 CA8184865 |
24 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1455559785 CA396863803 |
28 | R>* | No |
ClinGen gnomAD |
|
CA396863799 rs1197668928 |
28 | R>Q | No |
ClinGen TOPMed |
|
CA8184863 rs770293397 |
32 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA8184862 rs746377644 |
33 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1485845117 CA396863573 |
36 | E>G | No |
ClinGen gnomAD |
|
TCGA novel | 36 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs747155915 CA8184859 |
38 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396863509 rs1232689953 |
38 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA396863526 rs747155915 |
38 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396863477 rs1386308625 |
40 | E>K | No |
ClinGen TOPMed |
|
rs1260993441 CA396863423 |
41 | P>L | No |
ClinGen gnomAD |
|
rs201935636 CA8184855 |
42 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8184856 rs753617258 |
42 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs756017327 CA8184854 |
43 | H>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 47 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1384324893 CA396863268 |
48 | C>Y | No |
ClinGen gnomAD |
|
rs1303625330 CA396863229 |
49 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA8184851 rs756822913 |
50 | E>G | No |
ClinGen ExAC gnomAD |
|
CA396863170 rs763782296 |
52 | I>F | No |
ClinGen ExAC gnomAD |
|
rs762543333 CA8184848 |
52 | I>T | No |
ClinGen ExAC gnomAD |
|
CA8184849 rs763782296 |
52 | I>V | No |
ClinGen ExAC gnomAD |
|
CA8184847 rs765533695 |
56 | N>I | No |
ClinGen ExAC gnomAD |
|
CA8184846 rs765533695 |
56 | N>S | No |
ClinGen ExAC gnomAD |
|
rs148308758 CA284152289 |
57 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148308758 CA8184845 |
57 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 57 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184844 rs148308758 |
57 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8184842 rs8049284 |
58 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 60 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184840 rs772300408 |
60 | M>V | No |
ClinGen ExAC gnomAD |
|
CA8184839 rs748326125 |
62 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396862950 rs748326125 |
62 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184838 rs779845665 |
62 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1597172785 CA396862914 |
64 | K>R | No |
ClinGen Ensembl |
|
CA8184837 rs755963445 |
65 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1317821546 CA396862898 |
65 | R>K | No |
ClinGen gnomAD |
|
rs781244552 CA8184835 |
66 | I>F | No |
ClinGen ExAC gnomAD |
|
CA8184836 rs781244552 |
66 | I>L | No |
ClinGen ExAC gnomAD |
|
CA8184834 rs751032757 |
66 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396862841 rs1452963835 |
68 | S>L | No |
ClinGen TOPMed |
|
CA396862817 rs1193930442 |
70 | K>R | No |
ClinGen TOPMed |
|
CA396862792 rs1300782526 |
71 | Q>H | No |
ClinGen gnomAD |
|
rs1327395969 CA396862800 |
71 | Q>P | No |
ClinGen gnomAD |
|
CA8184832 rs763515409 |
72 | S>C | No |
ClinGen ExAC gnomAD |
|
rs761986882 CA8184831 |
73 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs372414577 CA8184830 |
73 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396862733 rs1465208694 |
76 | K>E | No |
ClinGen gnomAD |
|
rs1567570437 CA396862729 |
76 | K>R | No |
ClinGen Ensembl |
|
rs765006005 CA8184828 |
77 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1056402563 CA284152148 |
79 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs774232446 CA8184826 |
79 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396862672 rs1452218563 |
81 | S>G | No |
ClinGen gnomAD |
|
rs1330978491 CA396862656 |
82 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1375093823 CA396862651 |
82 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA396862635 rs1254538909 |
83 | G>V | No |
ClinGen gnomAD |
|
CA8184824 rs761199293 |
84 | P>A | No |
ClinGen ExAC gnomAD |
|
rs376407812 CA284152120 |
84 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
CA8184823 rs139107743 |
85 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs748321271 CA8184821 |
86 | V>A | No |
ClinGen ExAC gnomAD |
|
CA8184820 rs373182913 |
89 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396862522 rs1213890175 |
90 | S>F | No |
ClinGen TOPMed |
|
CA8184819 rs769040263 |
91 | H>N | No |
ClinGen ExAC gnomAD |
|
CA8184817 rs538917700 |
92 | R>K | No |
ClinGen ExAC gnomAD |
|
CA396862472 rs1374765119 |
93 | P>S | No |
ClinGen gnomAD |
|
rs1393091637 CA396862428 |
95 | D>Y | No |
ClinGen gnomAD |
|
CA8184815 rs746932115 |
96 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs202178136 CA8184813 |
101 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184814 rs200502636 |
101 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs752287768 CA8184812 |
102 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396862296 rs1597172631 |
102 | T>P | No |
ClinGen Ensembl |
|
rs922231130 CA284152023 |
103 | S>P | No |
ClinGen TOPMed |
|
rs201069122 CA284152022 |
103 | S>Y | No |
ClinGen Ensembl |
|
CA396862217 rs1438478318 |
104 | H>Q | No |
ClinGen gnomAD |
|
rs778511407 CA8184811 |
104 | H>R | No |
ClinGen ExAC gnomAD |
|
rs977037619 CA284152021 |
104 | H>Y | No |
ClinGen TOPMed |
|
CA396862214 rs1230699147 |
105 | K>E | No |
ClinGen gnomAD |
|
CA8184809 rs754159227 |
106 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184810 rs377184768 |
106 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 107 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184808 rs766737973 |
108 | R>* | No |
ClinGen ExAC gnomAD |
|
rs766737973 CA396862171 |
108 | R>G | No |
ClinGen ExAC gnomAD |
|
CA8184807 rs151165278 |
108 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1350592028 CA396862157 |
109 | I>V | No |
ClinGen gnomAD |
|
CA396862123 rs1234230843 |
110 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA396862124 rs1234230843 |
110 | N>T | No |
ClinGen TOPMed gnomAD |
|
rs201777900 CA396862107 |
111 | P>L | No |
ClinGen TOPMed |
|
rs201777900 CA284152010 |
111 | P>R | No |
ClinGen TOPMed |
|
rs1281227556 CA396862115 |
111 | P>S | No |
ClinGen gnomAD |
|
rs1281227556 CA396862118 |
111 | P>T | No |
ClinGen gnomAD |
|
rs924856145 CA396862099 |
112 | P>H | No |
ClinGen TOPMed |
|
rs924856145 CA284152009 |
112 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA396862101 rs1567570322 |
112 | P>S | No |
ClinGen Ensembl |
|
rs750885476 CA8184806 |
114 | A>G | No |
ClinGen ExAC gnomAD |
|
CA8184805 rs768140025 |
116 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396862040 rs1281382162 |
117 | K>E | No |
ClinGen gnomAD |
|
CA8184804 rs761768744 |
117 | K>I | No |
ClinGen ExAC gnomAD |
|
rs761768744 CA396862034 |
117 | K>R | No |
ClinGen ExAC gnomAD |
|
rs959637712 CA284151995 |
119 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA284151985 rs1023081357 |
120 | Y>C | No |
ClinGen TOPMed |
|
rs1333503745 CA396861994 |
120 | Y>H | No |
ClinGen gnomAD |
|
CA396861971 rs1412624016 |
121 | S>L | No |
ClinGen gnomAD |
|
CA396861931 rs1013394913 |
123 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs774539541 CA8184803 |
123 | K>R | No |
ClinGen ExAC gnomAD |
|
rs768952459 CA8184802 |
124 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396861926 rs768952459 |
124 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1405389031 CA396861900 |
125 | S>P | No |
ClinGen gnomAD |
|
CA396861884 rs1159768289 |
126 | S>L | No |
ClinGen gnomAD |
|
CA284151938 rs1027674208 |
127 | G>R | No |
ClinGen Ensembl |
|
rs974099405 CA284151930 |
128 | G>S | No |
ClinGen Ensembl |
|
TCGA novel | 129 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs770835171 CA8184799 |
130 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396861828 rs1486826735 |
131 | A>T | No |
ClinGen gnomAD |
|
CA284151904 rs1015557073 |
131 | A>V | No |
ClinGen gnomAD |
|
CA8184797 rs562488396 |
133 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs369415596 CA8184798 |
133 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs772092026 CA8184796 |
134 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA396861792 rs1350914242 |
134 | T>S | No |
ClinGen gnomAD |
|
rs370784290 CA396861729 |
138 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 139 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs756433507 CA8184790 |
140 | T>A | No |
ClinGen ExAC gnomAD |
|
rs750840122 CA8184789 |
141 | P>R | No |
ClinGen ExAC gnomAD |
|
rs1343055370 CA396861688 |
141 | P>S | No |
ClinGen gnomAD |
|
CA396861674 rs1403708630 |
142 | S>I | No |
ClinGen gnomAD |
|
CA396861679 rs1403708630 |
142 | S>N | No |
ClinGen gnomAD |
|
CA8184788 rs767889120 |
142 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA284151825 rs755893807 |
143 | G>D | No |
ClinGen gnomAD |
|
CA8184786 rs751651545 |
144 | L>V | No |
ClinGen ExAC TOPMed |
|
rs763182906 CA8184784 |
145 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA8184783 rs775849515 |
146 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1193369978 CA396861619 |
146 | I>V | No |
ClinGen gnomAD |
|
rs1243992802 CA396861599 CA396861603 |
147 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA396861611 rs1400002736 |
147 | M>V | No |
ClinGen TOPMed |
|
rs760360953 CA8184781 |
148 | P>L | No |
ClinGen ExAC gnomAD |
|
CA8184782 rs770181158 |
148 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1215676654 CA396861538 |
151 | K>N | No |
ClinGen gnomAD |
|
rs773079432 CA8184780 |
151 | K>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 151 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs893033243 CA284151748 |
152 | S>P | No |
ClinGen TOPMed |
|
TCGA novel | 153 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184777 rs778339782 |
155 | G>A | No |
ClinGen ExAC gnomAD |
|
rs748118826 CA8184778 |
155 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA284151725 rs370242036 |
156 | M>L | No |
ClinGen gnomAD |
|
rs370242036 CA396861466 |
156 | M>V | No |
ClinGen gnomAD |
|
CA396861411 rs1369563011 |
159 | G>A | No |
ClinGen gnomAD |
|
rs144219171 CA8184774 |
161 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
CA8184772 rs201425276 |
162 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184771 rs373621157 |
163 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1422120536 CA396861346 |
164 | E>Q | No |
ClinGen gnomAD |
|
CA8184769 rs187745628 |
166 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA396861306 rs1258312526 |
166 | D>V | No |
ClinGen gnomAD |
|
rs138238685 CA8184770 |
166 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs764763104 CA8184768 |
167 | E>D | No |
ClinGen ExAC gnomAD |
|
rs752873125 CA8184767 |
168 | R>K | No |
ClinGen ExAC gnomAD |
|
rs752873125 CA8184766 |
168 | R>T | No |
ClinGen ExAC gnomAD |
|
CA284151677 rs915694588 |
169 | H>Q | No |
ClinGen Ensembl |
|
rs765324115 CA8184765 |
171 | G>* | No |
ClinGen ExAC gnomAD |
|
rs1273667185 CA396861244 |
171 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA284151653 rs1055281965 |
172 | N>K | No |
ClinGen Ensembl |
|
rs1424744282 CA396861192 |
174 | S>C | No |
ClinGen TOPMed |
|
CA396861178 rs1274897739 |
175 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA396861153 rs1214987161 |
176 | Q>H | No |
ClinGen gnomAD |
|
rs1300878679 CA396861145 |
177 | P>L | No |
ClinGen gnomAD |
|
rs1346677875 CA396861151 |
177 | P>T | No |
ClinGen gnomAD |
|
CA396861143 rs761574264 |
178 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761574264 CA8184761 |
178 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774270019 CA8184760 |
180 | D>E | No |
ClinGen ExAC gnomAD |
|
rs920183275 CA284151645 |
180 | D>V | No |
ClinGen Ensembl |
|
rs1371109399 CA396861122 |
180 | D>Y | No |
ClinGen gnomAD |
|
rs768623859 CA8184759 |
181 | L>F | No |
ClinGen ExAC gnomAD |
|
CA396861115 rs1440688814 |
181 | L>M | No |
ClinGen gnomAD |
|
CA8184758 rs758179207 |
182 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA284151619 rs758179207 |
182 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373304541 CA8184755 |
183 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8184756 rs769293029 |
183 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1597172212 CA396861082 |
184 | H>D | No |
ClinGen Ensembl |
|
rs1230466980 CA396861079 |
184 | H>R | No |
ClinGen gnomAD |
|
CA8184752 rs747417366 |
185 | V>A | No |
ClinGen ExAC gnomAD |
|
rs757634954 CA8184753 |
185 | V>F | No |
ClinGen ExAC gnomAD |
|
CA396861075 rs757634954 |
185 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1270354031 CA396861071 |
186 | G>R | No |
ClinGen TOPMed |
|
CA396861065 rs1366472144 |
187 | E>K | No |
ClinGen TOPMed |
|
rs758991617 CA8184750 |
189 | D>G | No |
ClinGen ExAC gnomAD |
|
rs765359697 CA8184748 |
190 | M>I | No |
ClinGen ExAC gnomAD |
|
CA8184749 rs199772000 |
190 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 191 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA396861030 rs1236069981 |
191 | G>V | No |
ClinGen gnomAD |
|
rs1347918820 CA396861020 |
193 | C>R | No |
ClinGen gnomAD |
|
rs986776587 CA284151569 |
193 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA284151563 rs149647231 |
194 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138401474 CA8184746 |
195 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 196 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs200977842 CA8184744 |
196 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8184741 rs762910339 |
198 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs372394862 CA8184740 |
199 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs368116348 CA8184739 |
200 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8184737 rs138924106 |
201 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA284151477 rs900953571 |
202 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA396860952 CA396860953 rs1348845116 |
204 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
rs778308961 | 205 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184733 rs145820855 |
206 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA284166421 rs879863061 |
207 | S>C | No |
ClinGen gnomAD |
|
rs77050855 CA8184673 |
207 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA284166434 rs879863061 |
207 | S>Y | No |
ClinGen gnomAD |
|
rs770332841 CA8184672 |
208 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA396870503 rs1308819547 |
208 | A>P | No |
ClinGen gnomAD |
|
rs770332841 CA8184671 |
208 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396870482 rs1219244386 |
209 | L>P | No |
ClinGen TOPMed |
|
CA8184670 rs745896008 |
209 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756365917 CA284166409 |
211 | N>S | No |
ClinGen TOPMed |
|
rs370815076 CA8184668 |
212 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8184667 rs370815076 |
212 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1430185027 CA396870409 |
213 | G>E | No |
ClinGen gnomAD |
|
rs377472428 CA8184664 |
214 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396870390 rs1158743160 |
214 | L>W | No |
ClinGen gnomAD |
|
CA396870372 rs1253747115 |
215 | N>K | No |
ClinGen gnomAD |
|
CA8184661 rs749913146 |
217 | H>N | No |
ClinGen ExAC gnomAD |
|
rs1211531545 CA396870325 CA396870323 |
218 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs756881257 CA8184659 |
219 | P>A | No |
ClinGen ExAC gnomAD |
|
CA284166336 rs776503415 |
220 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1352904219 CA396870281 |
221 | K>R | No |
ClinGen gnomAD |
|
CA396870238 rs1472463798 |
224 | L>V | No |
ClinGen gnomAD |
|
rs763877374 CA8184657 |
225 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763202229 CA8184656 |
226 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs373147588 CA8184653 |
227 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373147588 CA8184654 |
227 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8184652 rs776634178 |
228 | K>E | No |
ClinGen ExAC gnomAD |
|
rs770901738 CA8184651 |
229 | D>E | No |
ClinGen ExAC gnomAD |
|
rs1158238345 CA396870152 |
229 | D>G | No |
ClinGen gnomAD |
|
rs1597136852 CA396870132 |
230 | Y>C | No |
ClinGen Ensembl |
|
TCGA novel | 231 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs148821008 CA8184649 |
231 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs973491854 CA284166246 |
233 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA284166227 rs963789797 |
234 | K>E | No |
ClinGen Ensembl |
|
rs1286235006 CA396870075 |
234 | K>R | No |
ClinGen TOPMed |
|
CA8184647 rs564887492 |
235 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA396870050 rs780027195 |
235 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1213088649 CA396870025 |
237 | R>G | No |
ClinGen gnomAD |
|
TCGA novel | 238 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184644 rs376651338 |
239 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396869982 rs1452179206 |
239 | S>R | No |
ClinGen TOPMed |
|
CA8184642 rs756720865 |
241 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1384771327 CA396869942 |
241 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs777240172 CA8184640 |
242 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA8184638 rs752989267 |
242 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs758098487 CA8184639 |
242 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA396869898 rs1287168472 |
243 | N>S | No |
ClinGen gnomAD |
|
rs145537003 CA8184637 |
245 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1206448220 CA396869834 |
248 | R>L | No |
ClinGen gnomAD |
|
CA8184633 rs773366284 |
250 | R>L | No |
ClinGen ExAC gnomAD |
|
CA8184632 rs773366284 |
250 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1424004394 CA396869783 |
251 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs1424004394 CA396869778 |
251 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA284166145 rs998542266 |
252 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs62049900 CA8184629 |
253 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 255 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs770953315 CA8184625 |
255 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8184626 rs369631694 |
255 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1293789196 CA396869614 |
259 | G>E | No |
ClinGen gnomAD |
|
rs757984517 CA8184622 |
260 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184621 rs752332994 |
261 | T>A | No |
ClinGen ExAC gnomAD |
|
CA8184620 rs778603352 |
261 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA396869384 rs761277499 |
269 | T>I | No |
ClinGen ExAC gnomAD |
|
CA396869389 rs761277499 |
269 | T>N | No |
ClinGen ExAC gnomAD |
|
rs761277499 CA8184616 |
269 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1567548675 CA396869379 |
270 | S>A | No |
ClinGen Ensembl |
|
rs879080216 CA284166066 |
270 | S>L | No |
ClinGen TOPMed |
|
CA8184613 rs767648820 |
271 | D>G | No |
ClinGen ExAC gnomAD |
|
CA8184612 rs762047020 |
272 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
rs1450743623 CA396869323 |
273 | N>S | No |
ClinGen gnomAD |
|
rs774714286 CA8184611 |
274 | A>S | No |
ClinGen ExAC gnomAD |
|
rs764454415 CA8184610 |
275 | L>M | No |
ClinGen ExAC gnomAD |
|
rs759385054 CA8184609 |
277 | P>A | No |
ClinGen ExAC gnomAD |
|
CA8184608 rs776518606 |
277 | P>L | No |
ClinGen ExAC |
|
rs748983597 | 279 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184581 rs748983597 |
279 | I>M | No |
ClinGen ExAC gnomAD |
|
CA284150688 rs975671527 |
279 | I>N | No |
ClinGen TOPMed |
|
rs1204680992 CA396864829 |
279 | I>V | No |
ClinGen gnomAD |
|
CA396864774 rs1266239560 |
280 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs756500412 CA8184579 |
281 | K>R | No |
ClinGen ExAC gnomAD |
|
CA8184580 rs756500412 |
281 | K>T | No |
ClinGen ExAC gnomAD |
|
CA284150584 rs978792477 |
282 | E>D | No |
ClinGen Ensembl |
|
CA396864687 rs1597128557 |
283 | V>A | No |
ClinGen Ensembl |
|
rs746263715 CA8184578 |
283 | V>F | No |
ClinGen ExAC gnomAD |
|
CA396864679 rs1341942086 |
284 | R>Q | No |
ClinGen gnomAD |
|
CA8184576 rs757864703 |
284 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184575 rs368202024 |
286 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
CA284150564 rs368202024 |
286 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
rs111324619 CA284150543 |
287 | L>P | No |
ClinGen Ensembl |
|
CA396864613 rs1162016397 |
288 | C>Y | No |
ClinGen gnomAD |
|
CA396864602 rs1597128528 |
289 | N>T | No |
ClinGen Ensembl |
|
CA396864593 rs1161870624 |
290 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA396864595 rs1161870624 |
290 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs760496597 CA8184570 |
292 | T>A | No |
ClinGen ExAC gnomAD |
|
CA8184569 rs750237699 |
292 | T>I | No |
ClinGen ExAC gnomAD |
|
CA284150500 rs980430837 |
293 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
TCGA novel | 294 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184567 rs370746070 |
294 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8184564 rs150794698 |
297 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396864448 rs1226452196 |
298 | L>M | No |
ClinGen gnomAD |
|
CA8184563 rs775181291 |
299 | L>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 300 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184562 rs769385267 |
300 | L>P | No |
ClinGen ExAC gnomAD |
|
CA396864368 rs866902124 |
302 | A>S | No |
ClinGen gnomAD |
|
rs866902124 CA284150441 |
302 | A>T | No |
ClinGen gnomAD |
|
CA8184559 rs547188605 |
305 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8184557 rs778486733 |
306 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA396864054 rs1414723778 |
310 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1231734348 CA396864075 |
310 | G>S | No |
ClinGen TOPMed |
|
CA396863995 rs1447683902 |
312 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs779145359 CA8184554 |
313 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA396863992 rs1567543552 |
313 | Y>H | No |
ClinGen Ensembl |
|
CA8184553 rs755185419 |
316 | L>I | No |
ClinGen ExAC gnomAD |
|
rs147914173 CA8184551 |
317 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1246119279 CA396863875 |
317 | I>V | No |
ClinGen gnomAD |
|
CA8184549 rs751494194 |
319 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA8184550 rs761655091 |
319 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1204039944 CA396863824 |
320 | L>M | No |
ClinGen gnomAD |
|
CA8184547 rs762507376 |
321 | S>C | No |
ClinGen ExAC gnomAD |
|
rs144737101 CA396863816 |
321 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8184548 rs144737101 |
321 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396863782 rs571363904 |
322 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8184545 rs779182525 |
323 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1273588390 CA396863748 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1350858763 CA396863723 |
325 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs142002683 CA8184542 |
328 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142002683 CA8184543 |
328 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396863640 rs1434183748 |
330 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA8184540 rs370310225 |
330 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 335 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA396863523 rs1335712100 |
335 | I>T | No |
ClinGen TOPMed |
|
CA8184504 rs762305274 |
341 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA284140401 rs767456197 |
341 | A>S | No |
ClinGen gnomAD |
|
CA396860892 rs762305274 |
341 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396860874 rs1422863402 |
344 | Q>* | No |
ClinGen gnomAD |
|
TCGA novel | 346 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 346 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 350 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184502 rs200689533 |
350 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8184501 rs200689533 |
350 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA396860825 rs1247897349 |
351 | V>L | No |
ClinGen gnomAD |
|
CA396860827 rs1247897349 |
351 | V>M | No |
ClinGen gnomAD |
|
rs769940252 CA8184499 |
354 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 355 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs781540702 CA8184497 |
356 | P>L | No |
ClinGen ExAC gnomAD |
|
CA396860777 rs1597122862 |
359 | G>C | No |
ClinGen Ensembl |
|
CA8184495 rs748022554 |
359 | G>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 359 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA396860766 rs1364579076 |
361 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA396860761 rs1319765346 |
362 | A>S | No |
ClinGen gnomAD |
|
CA284140322 rs952975359 |
363 | S>F | No |
ClinGen Ensembl |
|
rs1423459953 CA396860751 |
364 | I>V | No |
ClinGen gnomAD |
|
CA8184491 rs779722871 |
366 | P>L | No |
ClinGen ExAC gnomAD |
|
CA8184488 rs767241907 |
370 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396860672 rs1444671315 |
371 | V>M | No |
ClinGen gnomAD |
|
rs1481627142 CA396860604 |
376 | K>R | No |
ClinGen gnomAD |
|
CA396860601 rs1343799325 |
377 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1209548609 CA396860554 |
381 | T>M | No |
ClinGen gnomAD |
|
rs1232803206 CA396860548 |
382 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA396860546 rs1232803206 |
382 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs769856800 CA396860526 |
384 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769856800 CA8184482 |
384 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396860521 rs1567539720 |
384 | A>V | No |
ClinGen Ensembl |
|
rs536459738 CA396860498 |
387 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA8184478 rs747855913 |
387 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184479 rs536459738 |
387 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8184477 rs778854280 |
389 | T>A | No |
ClinGen ExAC gnomAD |
|
CA8184476 rs768656038 |
389 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA8184474 rs140095838 |
391 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
CA396860458 rs1166170776 |
392 | G>C | No |
ClinGen gnomAD |
|
CA396860430 rs1271127802 |
394 | S>A | No |
ClinGen TOPMed |
|
rs1374078523 CA396860426 |
394 | S>F | No |
ClinGen gnomAD |
|
rs889851733 CA284140193 |
396 | Y>H | No |
ClinGen gnomAD |
|
rs780661698 CA8184471 |
398 | F>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 400 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA396860368 rs1342986136 |
401 | I>N | No |
ClinGen gnomAD |
|
CA396860370 rs1207308459 |
401 | I>V | No |
ClinGen gnomAD |
|
rs186702168 CA8184469 |
402 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA284140157 rs368472250 |
404 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 404 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA8184467 rs368472250 |
404 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396860347 rs145890469 |
405 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763954319 CA8184465 |
405 | A>T | No |
ClinGen ExAC gnomAD |
|
CA8184464 rs145890469 |
405 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA8184462 rs770991488 |
406 | L>P | No |
ClinGen ExAC gnomAD |
|
rs755512414 CA8184446 |
407 | A>T | No |
ClinGen ExAC gnomAD |
|
rs753801497 CA8184445 |
408 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1185426912 CA396859307 |
409 | E>K | No |
ClinGen gnomAD |
|
CA8184444 rs766469320 |
410 | M>L | No |
ClinGen ExAC gnomAD |
|
CA396859274 rs760732086 |
411 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396859272 rs760732086 |
411 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1021446086 CA284134841 |
412 | F>I | No |
ClinGen Ensembl |
|
CA396859245 rs1464422532 |
412 | F>L | No |
ClinGen gnomAD |
|
rs1265986394 CA396859228 |
414 | G>R | No |
ClinGen gnomAD |
|
rs1421470774 CA396859200 |
415 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA396859201 rs1273478313 |
415 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1311355428 CA396859157 |
418 | T>A | No |
ClinGen TOPMed |
|
rs990497273 CA284134835 |
418 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs990497273 CA396859154 |
418 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA8184440 rs762788877 |
419 | A>T | No |
ClinGen ExAC gnomAD |
|
rs769555144 CA8184438 |
420 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1251298961 CA396859098 |
421 | E>G | No |
ClinGen gnomAD |
|
rs1315186233 CA396859102 |
421 | E>K | No |
ClinGen gnomAD |
|
rs776495063 CA8184436 |
423 | C>R | No |
ClinGen ExAC gnomAD |
|
CA8184435 rs770474965 |
425 | R>K | No |
ClinGen ExAC gnomAD |
|
CA396858999 rs1161702893 |
426 | G>E | No |
ClinGen gnomAD |
|
rs1246472733 CA396859000 |
426 | G>R | No |
ClinGen TOPMed |
|
rs1448781014 CA396858913 |
431 | V>F | No |
ClinGen gnomAD |
|
CA396858894 rs1597119736 |
431 | V>G | No |
ClinGen Ensembl |
|
rs1217601139 CA396858850 |
433 | W>* | No |
ClinGen gnomAD |
|
CA396858840 rs1447382699 |
433 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA396858834 rs1447382699 |
433 | W>C | No |
ClinGen gnomAD |
|
CA8184431 rs748442310 |
435 | T>S | No |
ClinGen ExAC gnomAD |
|
CA396858785 rs1291853182 |
436 | T>M | No |
ClinGen gnomAD |
|
rs865804016 CA284134780 |
440 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA396858661 rs1322034844 |
442 | M>V | No |
ClinGen gnomAD |
|
rs1168038281 CA396858621 |
444 | R>Q | No |
ClinGen gnomAD |
|
rs1366494845 CA396858624 |
444 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA396858613 rs1427913257 |
445 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA396858593 rs1188236160 |
446 | K>* | No |
ClinGen TOPMed gnomAD |
|
CA396858597 rs1188236160 |
446 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs1475722403 CA396858589 |
446 | K>R | No |
ClinGen gnomAD |
|
rs750554842 CA8184425 |
449 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750554842 CA396858504 |
449 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767809619 CA8184424 |
450 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767809619 CA396858496 |
450 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369532733 CA8184423 |
452 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
rs148875027 CA8184422 |
453 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8184421 rs765071393 |
453 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145676305 CA8184418 |
454 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs145676305 CA8184417 |
454 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA396857455 rs1317302153 |
457 | E>G | No |
ClinGen gnomAD |
|
rs931396700 CA284131283 |
459 | S>C | No |
ClinGen TOPMed |
|
rs758550547 CA8184386 |
460 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184385 rs758550547 |
460 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396857399 rs1351166719 |
461 | C>S | No |
ClinGen gnomAD |
|
CA8184383 rs202176613 |
463 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs202176613 CA8184382 |
463 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8184380 rs761338715 |
464 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396857357 rs761338715 |
464 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184379 rs761338715 |
464 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA396857361 rs1346545104 |
464 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs763502230 CA8184378 |
468 | K>E | No |
ClinGen ExAC gnomAD |
|
CA8184375 rs775273755 |
470 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs570302046 CA8184376 |
470 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA396857270 rs1278278097 |
471 | L>V | No |
ClinGen TOPMed |
|
CA396857241 rs1464128587 |
472 | E>A | No |
ClinGen Ensembl |
|
rs777259407 CA8184372 |
474 | V>M | No |
ClinGen ExAC gnomAD |
|
rs747040216 CA8184370 |
476 | E>G | No |
ClinGen ExAC |
|
CA284131230 rs202016466 |
478 | E>K | No |
ClinGen Ensembl |
|
rs1007360853 CA284131226 |
479 | C>S | No |
ClinGen TOPMed |
|
rs369680829 CA284131219 |
479 | C>Y | No |
ClinGen TOPMed |
|
rs202026090 CA8184367 |
480 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs779145592 CA8184366 |
481 | M>R | No |
ClinGen ExAC gnomAD |
|
rs750239718 CA8184364 |
483 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184362 rs377083708 |
484 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
rs767402697 CA8184363 |
484 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs1363857310 CA396856985 |
486 | W>C | No |
ClinGen gnomAD |
|
TCGA novel | 492 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs373690013 CA8184360 |
494 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
CA396856845 rs1468747693 |
495 | L>I | No |
ClinGen TOPMed |
|
CA396856786 rs1424758752 |
498 | Y>C | No |
ClinGen gnomAD |
|
CA8184357 rs775256021 |
501 | D>G | No |
ClinGen ExAC gnomAD |
|
CA396856741 rs1567535789 |
501 | D>Y | No |
ClinGen Ensembl |
|
rs765035136 CA8184356 |
502 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8184355 rs759935300 |
505 | E>D | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8N8U2
1 GO annotations of cellular component
Name | Definition |
---|---|
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. |
3 GO annotations of molecular function
Name | Definition |
---|---|
catalytic activity | Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. |
methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
transcription corepressor activity | A transcription coregulator activity that represses or decreases 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. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors 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. |
No GO annotations of biological process
Name | Definition |
---|---|
No GO annotations for biological process |
7 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q99549 | MPHOSPH8 | M-phase phosphoprotein 8 | Homo sapiens (Human) | PR |
P83916 | CBX1 | Chromobox protein homolog 1 | Homo sapiens (Human) | PR |
Q9Y232 | CDYL | Chromodomain Y-like protein | Homo sapiens (Human) | PR |
P83917 | Cbx1 | Chromobox protein homolog 1 | Mus musculus (Mouse) | PR |
Q9WTK2 | Cdyl | Chromodomain Y-like protein | Mus musculus (Mouse) | PR |
Q9D5D8 | Cdyl2 | Chromodomain Y-like protein 2 | Mus musculus (Mouse) | PR |
Q6AYK9 | Cdyl | Chromodomain Y-like protein | Rattus norvegicus (Rat) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MASGDLYEVE | RIVDKRKNKK | GKWEYLIRWK | GYGSTEDTWE | PEHHLLHCEE | FIDEFNGLHM |
70 | 80 | 90 | 100 | 110 | 120 |
SKDKRIKSGK | QSSTSKLLRD | SRGPSVEKLS | HRPSDPGKSK | GTSHKRKRIN | PPLAKPKKGY |
130 | 140 | 150 | 160 | 170 | 180 |
SGKPSSGGDR | ATKTVSYRTT | PSGLQIMPLK | KSQNGMENGD | AGSEKDERHF | GNGSHQPGLD |
190 | 200 | 210 | 220 | 230 | 240 |
LNDHVGEQDM | GECDVNHATL | AENGLGSALT | NGGLNLHSPV | KRKLEAEKDY | VFDKRLRYSV |
250 | 260 | 270 | 280 | 290 | 300 |
RQNESNCRFR | DIVVRKEEGF | THILLSSQTS | DNNALTPEIM | KEVRRALCNA | ATDDSKLLLL |
310 | 320 | 330 | 340 | 350 | 360 |
SAVGSVFCSG | LDYSYLIGRL | SSDRRKESTR | IAEAIRDFVK | AFIQFKKPIV | VAINGPALGL |
370 | 380 | 390 | 400 | 410 | 420 |
GASILPLCDI | VWASEKAWFQ | TPYATIRLTP | AGCSSYTFPQ | ILGVALANEM | LFCGRKLTAQ |
430 | 440 | 450 | 460 | 470 | 480 |
EACSRGLVSQ | VFWPTTFSQE | VMLRVKEMAS | CSAVVLEESK | CLVRSFLKSV | LEDVNEKECL |
490 | 500 | ||||
MLKQLWSSSK | GLDSLFSYLQ | DKIYEV |