Q9HC52
PR
Gene name |
CBX8 (PC3, RC1) |
Protein name |
Chromobox protein homolog 8 |
Names |
Polycomb 3 homolog, Pc3, hPc3, Rectachrome 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57332 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for Q9HC52
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2N4Q | NMR | - | A | 327-349 | PDB |
| 3I91 | X-ray | 155 A | A/B | 8-61 | PDB |
| 5EQ0 | X-ray | 118 A | A | 7-61 | PDB |
| AF-Q9HC52-F1 | Predicted | AlphaFoldDB |
329 variants for Q9HC52
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs764165202 CA8811925 |
5 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA401323844 rs1417794702 |
13 | A>T | No |
ClinGen gnomAD |
|
|
rs1001500874 CA294819412 |
23 | K>E | No |
ClinGen gnomAD |
|
|
CA401323780 rs1001500874 |
23 | K>Q | No |
ClinGen gnomAD |
|
|
rs1316094371 CA401323740 |
26 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs753992173 CA8811891 |
29 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8811888 rs752915551 |
33 | K>R | No |
ClinGen ExAC |
|
| TCGA novel | 37 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 38 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289539660 CA401323615 |
41 | T>I | No |
ClinGen gnomAD |
|
|
CA294819179 rs765581747 |
46 | E>K | No |
ClinGen Ensembl |
|
|
CA8811860 rs145403346 |
51 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401323520 rs760284596 |
55 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1303438 CA8811859 rs760284596 |
55 | A>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs532612965 CA294819172 |
56 | A>V | No |
ClinGen 1000Genomes |
|
|
CA401323505 rs1304573522 |
58 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs775100637 CA8811858 |
59 | E>K | No |
ClinGen ExAC |
|
|
rs1384864949 CA401323462 |
62 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 63 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294819109 rs113436559 |
64 | M>I | No |
ClinGen Ensembl |
|
|
CA401323422 rs1334666284 |
67 | Y>C | No |
ClinGen gnomAD |
|
|
rs1464596081 CA401323356 |
77 | K>Q | No |
ClinGen gnomAD |
|
|
rs758546662 CA8811822 |
80 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 81 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 82 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1006459067 CA294818933 |
83 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1317405799 CA401323286 |
85 | A>V | No |
ClinGen gnomAD |
|
|
rs1348774080 CA401323261 |
87 | A>V | No |
ClinGen gnomAD |
|
|
CA294818927 rs888546250 |
88 | K>N | No |
ClinGen TOPMed |
|
|
rs751127324 CA8811794 |
89 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751127324 CA401323249 |
89 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401323228 rs779774143 |
92 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292108083 CA401323221 |
93 | E>D | No |
ClinGen gnomAD |
|
|
CA8811792 rs757783391 |
93 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401323226 rs757783391 |
93 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457754607 CA401323210 |
95 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs373124618 CA294818919 |
99 | A>D | No |
ClinGen ESP TOPMed |
|
|
rs376105484 CA8811791 |
99 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1471319944 CA401323179 |
100 | R>G | No |
ClinGen gnomAD |
|
|
rs1410492540 CA401323176 |
100 | R>K | No |
ClinGen gnomAD |
|
|
CA8811789 rs764787340 |
101 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369895001 CA8811788 |
102 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763836445 CA8811786 |
103 | R>Q | Variant assessed as Somatic; 5.59e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8811787 rs753814886 |
103 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1486101751 CA401323150 |
105 | P>S | No |
ClinGen gnomAD |
|
|
rs1187980031 CA401323133 |
107 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1206820861 CA401323136 |
107 | P>S | No |
ClinGen gnomAD |
|
|
rs199859945 CA8811784 |
109 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772341427 CA8811783 |
109 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759741194 CA8811782 COSM3403340 |
110 | S>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs759741194 CA401323118 |
110 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA401323106 rs1302257467 |
112 | Q>R | No |
ClinGen TOPMed |
|
|
rs1360951208 CA401323092 |
114 | L>P | No |
ClinGen TOPMed |
|
|
rs774556979 CA8811781 |
115 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8811780 rs771180787 |
115 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs375799501 CA8811778 |
117 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375799501 CA8811777 |
117 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748554256 CA401323069 |
119 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8811775 rs781480316 |
120 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA294818896 rs758059630 |
121 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8811774 rs758059630 |
121 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401323059 rs1197801603 |
121 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1263505479 CA401323048 |
123 | G>S | No |
ClinGen gnomAD |
|
|
rs778364607 CA8811772 |
125 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1263713663 CA401323032 |
126 | N>D | No |
ClinGen gnomAD |
|
|
CA8811771 rs756792980 |
127 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401323013 COSM226804 rs1347287444 |
128 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8811769 rs764032339 |
129 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8811768 rs760319922 |
130 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294818890 rs956301811 |
130 | S>P | No |
ClinGen Ensembl |
|
|
CA8811765 rs759779387 |
131 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759779387 CA401322999 |
131 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767271364 CA8811766 |
131 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA401322987 rs537021336 |
133 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537021336 CA8811763 |
133 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401322965 rs1166441950 |
136 | T>I | No |
ClinGen gnomAD |
|
|
CA401322943 rs781600152 |
139 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA401322941 rs1414790489 |
140 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA401322938 rs1568507938 |
140 | S>T | No |
ClinGen Ensembl |
|
|
CA294818875 rs781159436 |
141 | T>N | No |
ClinGen gnomAD |
|
|
CA8811756 rs139454615 |
143 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139454615 CA401322921 |
143 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150922173 CA8811755 |
143 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8811754 rs150922173 |
143 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401322917 rs748800112 |
144 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8811752 rs748800112 |
144 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA401322906 rs757105100 |
145 | E>D | No |
ClinGen gnomAD |
|
|
CA8811751 rs146798598 |
146 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146798598 CA8811750 |
146 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8811749 rs752624120 |
147 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752624120 CA294818862 |
147 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401322899 rs1450735053 |
147 | P>S | No |
ClinGen gnomAD |
|
|
rs372864497 CA401322895 |
148 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372864497 CA401322896 |
148 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8811747 rs372864497 |
148 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767309502 CA8811748 |
148 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA401322891 rs1428860999 |
149 | D>G | No |
ClinGen gnomAD |
|
|
rs751778261 CA8811746 |
149 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8811745 rs374488082 |
150 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374488082 CA8811744 |
150 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374488082 CA8811743 |
150 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA294818853 rs1009346936 |
150 | R>W | No |
ClinGen gnomAD |
|
|
CA401322879 rs1182906003 |
151 | D>E | No |
ClinGen TOPMed |
|
|
rs1367847432 CA401322877 |
152 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1367847432 CA401322878 |
152 | R>G | No |
ClinGen gnomAD |
|
|
rs762352348 CA8811741 |
152 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762352348 CA401322876 |
152 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868842913 CA294818841 CA401322869 |
153 | D>E | No |
ClinGen TOPMed |
|
|
CA8811738 rs777037705 |
153 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438517217 CA401322873 |
153 | D>H | No |
ClinGen gnomAD |
|
|
rs1438517217 CA401322872 |
153 | D>N | No |
ClinGen gnomAD |
|
|
CA401322868 rs769016834 |
154 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs201425885 CA401322867 |
154 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8811736 rs201425885 |
154 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769016834 CA8811737 |
154 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA401322859 rs1230412086 |
155 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8811734 rs773925071 |
155 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs199842203 CA401322858 |
156 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs199842203 CA401322857 |
156 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs200821578 CA401322843 |
158 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8811732 rs748996167 |
158 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294818831 rs748996167 |
158 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294818829 rs748996167 |
158 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200821578 CA401322842 |
158 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530891614 CA294818823 CA8811731 |
159 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA401322834 rs748075973 |
160 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8811728 rs748075973 |
160 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201387278 CA8811729 |
160 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8811724 rs369788502 |
162 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA294818809 rs199697101 |
164 | R>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs199697101 CA401322812 |
164 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1472958228 CA401322803 |
165 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401322792 rs1414195929 |
166 | R>S | No |
ClinGen gnomAD |
|
|
rs1398034062 CA401322796 |
166 | R>W | No |
ClinGen TOPMed |
|
|
CA401322790 rs1412074596 |
167 | E>K | No |
ClinGen TOPMed |
|
|
CA401322779 rs754757952 |
168 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754757952 CA8811723 |
168 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335537635 CA401322770 |
170 | R>G | No |
ClinGen TOPMed |
|
|
CA401322757 rs1472359440 |
171 | E>D | No |
ClinGen gnomAD |
|
|
CA401322763 rs1405995988 |
171 | E>K | No |
ClinGen TOPMed |
|
|
rs377225412 CA8811720 |
172 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866445310 CA8811721 |
172 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766337951 CA8811719 |
173 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8811718 COSM985406 rs142520694 |
174 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA294818801 rs142520694 |
174 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401322744 rs750716232 |
174 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8811717 rs750716232 |
174 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227274381 CA401322732 |
176 | R>K | No |
ClinGen gnomAD |
|
|
CA8811714 rs367957492 |
177 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276296837 CA401322720 |
178 | R>G | No |
ClinGen gnomAD |
|
|
rs140138745 CA8811713 |
178 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401322709 rs1330374172 |
179 | E>D | No |
ClinGen gnomAD |
|
|
rs775817124 CA401322706 |
180 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs775817124 COSM215730 CA8811711 |
180 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8811712 rs533102630 |
180 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs772472271 CA8811710 |
182 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401322693 rs1426109948 |
183 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1477164132 CA401322651 |
188 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA401322653 rs1193948923 |
188 | K>R | No |
ClinGen TOPMed |
|
|
rs1246431892 CA401322645 |
189 | P>R | No |
ClinGen gnomAD |
|
|
CA401322639 rs1466604890 |
190 | S>I | No |
ClinGen gnomAD |
|
|
CA401322630 rs1246808506 |
191 | S>L | No |
ClinGen gnomAD |
|
|
CA8811705 rs780825833 |
192 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401322625 rs780825833 |
192 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401322626 rs780825833 |
192 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961666914 CA294818782 |
193 | G>R | No |
ClinGen TOPMed |
|
|
CA401322610 rs779967756 |
195 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA8811702 rs779967756 |
195 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs758300215 CA8811701 |
196 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758300215 CA401322600 |
196 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362905845 CA401322595 |
197 | K>R | No |
ClinGen gnomAD |
|
|
CA294818775 rs978886942 |
198 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 199 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779016895 CA8811699 |
199 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8811697 rs753857016 |
202 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs761146309 CA8811695 |
203 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767825797 CA8811693 |
204 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs767825797 CA294818767 |
204 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8811694 rs369528313 |
204 | R>W | Variant assessed as Somatic; 0.000142 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8811692 rs759913802 |
205 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289250310 CA401322546 |
206 | E>Q | No |
ClinGen TOPMed |
|
|
rs772859757 CA8811691 |
207 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772859757 CA401322539 |
207 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294818762 rs147538157 |
207 | L>P | No |
ClinGen ESP |
|
|
rs143202450 CA8811690 |
208 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1339876348 CA401322517 |
210 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA294818754 rs965280480 |
212 | Q>H | No |
ClinGen Ensembl |
|
|
CA401322503 rs1568507693 |
213 | R>G | No |
ClinGen Ensembl |
|
|
rs1598235298 CA401322472 |
217 | E>D | No |
ClinGen Ensembl |
|
|
CA401322474 rs1445959366 |
217 | E>G | No |
ClinGen gnomAD |
|
|
rs144276670 CA8811685 |
217 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8811684 rs771935190 |
218 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401322455 rs1380779373 |
220 | A>T | No |
ClinGen TOPMed |
|
|
rs757406974 CA8811681 |
220 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM985405 CA8811679 rs777797402 |
221 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756214938 CA8811678 |
221 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs759875207 CA8811675 |
223 | G>A | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA401322440 rs1482671520 |
223 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA401322431 rs1481876157 |
224 | E>D | No |
ClinGen gnomAD |
|
|
rs1239558308 CA401322433 |
224 | E>G | No |
ClinGen TOPMed |
|
|
rs1222070076 CA401322405 |
228 | G>C | No |
ClinGen gnomAD |
|
|
rs1323398054 CA401322396 |
229 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 231 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401322375 CA8811673 rs376248661 |
232 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
rs1226664166 CA401322381 |
232 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1289075340 CA401322374 |
233 | D>N | No |
ClinGen gnomAD |
|
|
CA401322362 rs141960676 |
234 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401322365 rs1598235241 |
234 | T>P | No |
ClinGen Ensembl |
|
|
CA8811670 rs141960676 |
234 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8811669 rs143582959 |
235 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401322359 rs1185951325 |
235 | P>H | No |
ClinGen TOPMed |
|
|
CA294818727 rs143582959 |
235 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1352101388 CA401322353 |
236 | S>C | No |
ClinGen gnomAD |
|
|
rs1458773035 CA401322356 |
236 | S>P | No |
ClinGen gnomAD |
|
|
rs145608074 CA8811667 CA401322351 |
237 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs923018185 CA294818724 |
238 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8811665 rs745874753 |
240 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA401322315 rs1568507613 |
242 | P>L | No |
ClinGen Ensembl |
|
|
rs1250666434 CA401322312 |
243 | A>S | No |
ClinGen gnomAD |
|
|
rs773995287 CA8811664 |
243 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1263603569 CA401322309 |
244 | G>S | No |
ClinGen gnomAD |
|
|
CA401322303 rs1220652461 |
245 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1268802639 CA401322294 |
246 | S>G | No |
ClinGen gnomAD |
|
|
CA8811662 rs749429236 |
249 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs777990002 CA8811661 |
251 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1178915096 CA401322255 |
252 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA294818707 rs140328933 |
256 | S>A | No |
ClinGen ESP |
|
|
rs575981343 CA8811658 |
256 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1160697444 CA401322210 |
259 | V>L | No |
ClinGen gnomAD |
|
|
rs367712089 CA294818703 |
260 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs557517163 CA8811655 |
262 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766615887 CA8811654 |
262 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA401322182 rs1465263345 |
263 | V>G | No |
ClinGen gnomAD |
|
|
CA294818697 rs921044773 |
265 | S>T | No |
ClinGen Ensembl |
|
|
CA8811652 rs753485760 |
266 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8811651 rs763843338 |
268 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401322150 rs1234154063 |
269 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 271 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8811650 rs760472551 |
271 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299591829 CA401322132 |
271 | A>V | No |
ClinGen gnomAD |
|
|
rs759359140 CA8811647 |
272 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8811648 rs767103069 |
272 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1172666829 CA401322117 |
274 | K>R | No |
ClinGen gnomAD |
|
|
CA401322107 rs1262003127 |
276 | A>T | No |
ClinGen TOPMed |
|
|
rs1232181827 CA401322083 |
279 | T>S | No |
ClinGen gnomAD |
|
|
CA401322075 rs1449906427 |
280 | F>L | No |
ClinGen gnomAD |
|
|
rs1391934353 CA401322066 |
281 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs143139480 CA8811642 |
282 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401322065 rs1417770861 |
282 | A>T | No |
ClinGen TOPMed |
|
|
rs1261062566 CA401322056 |
283 | R>M | No |
ClinGen gnomAD |
|
|
rs755119148 CA8811639 |
284 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8811640 rs781221605 CA401322052 |
284 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 285 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234004373 CA401322037 |
286 | K>N | No |
ClinGen gnomAD |
|
|
CA294818678 rs112773266 |
286 | K>R | No |
ClinGen Ensembl |
|
|
CA401322033 rs1343395334 |
287 | H>Y | No |
ClinGen gnomAD |
|
|
CA401322011 rs1449312389 |
290 | A>S | No |
ClinGen gnomAD |
|
|
CA401322010 rs1405469086 |
290 | A>V | No |
ClinGen TOPMed |
|
|
CA8811636 rs571644722 |
292 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1399587486 CA401321980 |
295 | K>E | No |
ClinGen gnomAD |
|
|
CA8811634 rs765756107 |
295 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1430162896 CA401321972 |
296 | G>C | No |
ClinGen gnomAD |
|
|
rs1391715902 CA401321971 |
296 | G>V | No |
ClinGen gnomAD |
|
|
rs1448749624 CA401321964 |
297 | Q>R | No |
ClinGen gnomAD |
|
|
rs1025035103 CA294818670 |
299 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766897069 CA8811631 |
301 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs61758361 CA8811630 |
303 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1162963762 CA401321913 |
305 | T>I | No |
ClinGen Ensembl |
|
|
rs567526623 CA8811627 |
306 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8811628 rs200249730 |
306 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401321905 rs1203494142 |
307 | V>A | No |
ClinGen gnomAD |
|
|
CA401321907 rs1277148694 |
307 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs772975695 CA8811626 |
308 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs769620160 CA8811625 |
310 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 312 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8811623 rs776938695 |
314 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8811622 rs539351100 |
314 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs755669870 | 315 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8811620 rs556082265 |
315 | S>I | No |
ClinGen ExAC |
|
| TCGA novel | 315 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA294818654 rs556082265 |
315 | S>T | No |
ClinGen ExAC |
|
|
rs1393978443 CA401321857 |
316 | S>P | No |
ClinGen gnomAD |
|
|
rs4889891 CA401321850 |
317 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4889891 CA8811618 VAR_014954 |
317 | G>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780067023 CA8811619 |
317 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA8811617 rs746425734 |
318 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752347994 CA8811614 |
319 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8811613 rs780907700 |
319 | G>V | No |
ClinGen ExAC gnomAD |
|
| rs752404275 | 320 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765861025 CA8811610 |
322 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765861025 COSM1199740 CA8811609 |
322 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs570009194 CA8811611 |
322 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401321810 CA401321811 rs1180448427 |
324 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1367227192 CA401321814 |
324 | M>L | No |
ClinGen TOPMed |
|
|
rs373434731 CA8811607 |
324 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401321804 rs1437674173 |
325 | G>E | No |
ClinGen gnomAD |
|
|
rs996364861 CA294818635 |
325 | G>R | No |
ClinGen TOPMed |
|
|
CA401321802 rs761614234 |
326 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761614234 CA8811605 |
326 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401321792 rs1040551439 |
327 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1228512055 CA401321789 |
328 | G>E | No |
ClinGen gnomAD |
|
|
CA8811603 rs768918638 CA401321790 |
328 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768918638 CA8811604 |
328 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 329 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401321783 rs1351923510 COSM437707 |
329 | G>E | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1286129591 | 329 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401321761 rs1568507401 |
333 | L>F | No |
ClinGen Ensembl |
|
|
rs746334191 CA8811599 |
335 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA294818619 rs927208196 |
346 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1417490849 CA401321669 |
347 | E>V | No |
ClinGen TOPMed |
|
|
rs771362834 CA8811597 |
350 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1238436 rs979967432 CA294818616 |
352 | S>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA8811595 rs778062318 |
354 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 354 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200134960 CA8811594 |
356 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA401321606 rs1330680561 |
357 | N>D | No |
ClinGen gnomAD |
|
|
rs62000363 CA294818610 |
357 | N>T | No |
ClinGen Ensembl |
|
|
CA8811593 rs751216903 |
359 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779579608 CA8811592 |
362 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA8811590 rs750306972 |
365 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294818601 rs917101305 |
368 | S>A | No |
ClinGen TOPMed |
|
|
rs763845874 CA8811586 |
373 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775603727 CA8811584 |
379 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1174651150 CA401321443 |
381 | D>G | No |
ClinGen gnomAD |
|
|
CA401321445 rs1426180490 |
381 | D>H | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9HC52
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| heterochromatin | A compact and highly condensed form of chromatin that is refractory to transcription. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| PcG protein complex | A chromatin-associated multiprotein complex containing Polycomb Group proteins. In Drosophila, Polycomb group proteins are involved in the long-term maintenance of gene repression, and PcG protein complexes associate with Polycomb group response elements (PREs) in target genes to regulate higher-order chromatin structure. |
| PRC1 complex | A multiprotein complex that mediates monoubiquitination of lysine residues of histone H2A (lysine-118 in Drosophila or lysine-119 in mammals). The complex is required for stable long-term maintenance of transcriptionally repressed states and is involved in chromatin remodeling. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
| single-stranded RNA binding | Binding to single-stranded RNA. |
| ubiquitin-protein transferase activator activity | Binds to and increases the activity of a ubiquitin-protein transferase, an enzyme that catalyzes the covalent attachment of ubiquitin to lysine in a substrate protein. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| histone ubiquitination | The modification of histones by addition of ubiquitin groups. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9QXV1 | Cbx8 | Chromobox protein homolog 8 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELSAVGERV | FAAEALLKRR | IRKGRMEYLV | KWKGWSQKYS | TWEPEENILD | ARLLAAFEER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EREMELYGPK | KRGPKPKTFL | LKAQAKAKAK | TYEFRSDSAR | GIRIPYPGRS | PQDLASTSRA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| REGLRNMGLS | PPASSTSTSS | TCRAEAPRDR | DRDRDRDRER | DRERERERER | ERERERERER |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTSRVDDKPS | SPGDSSKKRG | PKPRKELPDP | SQRPLGEPSA | GLGEYLKGRK | LDDTPSGAGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FPAGHSVIQL | ARRQDSDLVQ | CGVTSPSSAE | ATGKLAVDTF | PARVIKHRAA | FLEAKGQGAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DPNGTRVRHG | SGPPSSGGGL | YRDMGAQGGR | PSLIARIPVA | RILGDPEEES | WSPSLTNLEK |
| 370 | 380 | ||||
| VVVTDVTSNF | LTVTIKESNT | DQGFFKEKR |