Q96T68
PR
Gene name |
SETDB2 (C13orf4, CLLD8, KMT1F) |
Protein name |
Histone-lysine N-methyltransferase SETDB2 |
Names |
Chronic lymphocytic leukemia deletion region gene 8 protein, Lysine N-methyltransferase 1F, SET domain bifurcated 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83852 |
EC number |
2.1.1.366: Methyltransferases |
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
3 structures for Q96T68
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5TFP | X-ray | 200 A | A/B | 1-64 | PDB |
| 8HFP | X-ray | 182 A | C/D | 133-239 | PDB |
| AF-Q96T68-F1 | Predicted | AlphaFoldDB |
476 variants for Q96T68
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6981649 rs758219260 |
3 | E>G | No |
ClinGen ExAC gnomAD |
|
| rs1288692615 | 5 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572328768 CA6981650 |
5 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs770637591 | 6 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388182220 rs1243574316 |
6 | G>S | No |
ClinGen TOPMed |
|
|
CA6981666 rs776253482 |
7 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1263483011 CA388175949 |
7 | D>V | No |
ClinGen gnomAD |
|
|
rs150577541 CA249342937 |
9 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA388175987 rs1208249238 |
10 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6981667 rs759100860 |
10 | T>P | No |
ClinGen ExAC |
|
|
rs764586518 CA388176007 |
11 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA249342948 rs927474961 |
15 | L>R | No |
ClinGen Ensembl |
|
|
CA249342951 rs938429225 |
16 | E>D | No |
ClinGen TOPMed |
|
|
rs752714627 CA6981669 |
20 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1481684139 CA388176145 |
21 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA249342967 rs1056777600 |
22 | D>N | No |
ClinGen Ensembl |
|
|
CA388176171 rs1405786971 |
23 | F>I | No |
ClinGen gnomAD |
|
|
CA6981670 rs762753430 |
24 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1331787983 CA388176184 |
24 | I>V | No |
ClinGen gnomAD |
|
|
rs891563228 CA249343007 |
26 | E>A | No |
ClinGen Ensembl |
|
|
CA388176222 rs1442319302 |
27 | Q>K | No |
ClinGen gnomAD |
|
|
rs1009825264 CA249343012 |
28 | V>I | No |
ClinGen Ensembl |
|
|
CA6981672 rs371292180 |
29 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs138722347 CA6981673 |
30 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138722347 CA388176272 |
30 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388176322 rs1390241194 |
33 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 37 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6981677 rs538466910 |
40 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1459676726 CA388176390 |
40 | K>T | No |
ClinGen TOPMed |
|
|
CA6981678 rs748235391 |
41 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 41 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6981679 rs758868733 |
42 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6981680 rs778248069 |
46 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389948443 CA388176577 |
48 | E>D | No |
ClinGen gnomAD |
|
|
rs1007245110 CA249343029 |
48 | E>K | No |
ClinGen Ensembl |
|
|
rs778266451 CA6981699 |
49 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 49 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747450631 CA6981700 |
50 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746224187 CA6981703 |
57 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1398670170 CA388176717 |
59 | A>T | No |
ClinGen gnomAD |
|
|
rs1594140799 CA388176732 |
60 | T>A | No |
ClinGen Ensembl |
|
|
CA6981704 rs769375085 |
61 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369406443 CA249343654 |
62 | I>F | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 62 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6981705 rs775207993 |
66 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs945711302 CA249343655 |
68 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6981707 rs768210897 |
69 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388177533 rs1315050308 |
74 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 75 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388177547 rs1470456618 |
76 | V>L | No |
ClinGen gnomAD |
|
|
rs1302475225 CA388177559 |
78 | A>T | No |
ClinGen gnomAD |
|
|
CA6981744 rs373994331 |
82 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388177790 rs1270558224 |
83 | P>A | No |
ClinGen TOPMed |
|
|
CA388177792 rs1488738214 |
83 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778697019 CA388177795 |
84 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA249348209 rs1018933081 |
84 | M>T | No |
ClinGen TOPMed |
|
|
CA6981745 rs778697019 |
84 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747729249 CA6981746 |
86 | V>A | No |
ClinGen ExAC TOPMed |
|
|
rs1389711675 CA388177845 |
88 | Q>H | No |
ClinGen gnomAD |
|
|
rs771544182 CA388177842 |
88 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA6981747 rs771544182 |
88 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1427919941 CA388177852 |
89 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA388177849 rs1427919941 |
89 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs746914934 CA6981749 |
91 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457818152 CA388177903 |
91 | Q>K | No |
ClinGen gnomAD |
|
|
CA388177918 rs1292201874 |
91 | Q>R | No |
ClinGen gnomAD |
|
|
CA249348224 rs867080155 |
93 | N>K | No |
ClinGen Ensembl |
|
|
CA6981750 rs770660813 |
95 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1383627589 CA388178007 |
95 | S>T | No |
ClinGen gnomAD |
|
|
CA388178031 rs1173046852 |
96 | N>D | No |
ClinGen TOPMed |
|
|
CA6981751 rs776527076 |
96 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225572909 CA388178060 |
97 | A>T | No |
ClinGen gnomAD |
|
|
rs202045600 CA6981752 |
97 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6981753 rs768920321 |
98 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA6981754 rs774547518 |
99 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6981756 rs376885080 |
100 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388178175 rs1188901166 |
101 | T>A | No |
ClinGen gnomAD |
|
|
CA6981757 rs750928370 |
101 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176857417 CA388178209 |
102 | S>L | No |
ClinGen TOPMed |
|
|
CA6981758 rs761287791 |
103 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6981759 rs766775724 |
105 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6981760 rs754314267 |
105 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755390616 CA6981761 |
106 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 106 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483251864 CA388178296 |
107 | F>Y | No |
ClinGen TOPMed |
|
|
rs1290955012 CA388178321 |
109 | E>A | No |
ClinGen TOPMed |
|
|
CA6981762 rs764986190 |
109 | E>D | No |
ClinGen ExAC |
|
|
CA388178339 rs1163286081 |
110 | D>E | No |
ClinGen gnomAD |
|
|
CA6981764 rs757867378 |
113 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA388178436 rs1320249735 |
114 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs7998427 VAR_031282 CA6981783 |
117 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6981782 rs200801016 |
117 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs7998427 CA388181388 |
117 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388181475 rs1279616440 |
121 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA249354691 rs894993089 |
122 | L>H | No |
ClinGen gnomAD |
|
|
rs1442005864 CA388181487 |
122 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763630662 CA6981784 |
124 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781536384 CA249354709 |
125 | E>D | No |
ClinGen Ensembl |
|
|
CA6981785 rs751136767 |
127 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs145588070 CA6981786 |
128 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388181546 rs1258272901 |
129 | V>G | No |
ClinGen TOPMed |
|
|
rs745986148 CA249354720 |
129 | V>L | No |
ClinGen Ensembl |
|
|
rs200105049 CA6981787 |
130 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200105049 CA6981788 |
130 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273692027 CA388181565 |
132 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 135 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6981790 rs779867444 |
138 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 142 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772398610 CA6981792 |
145 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6981793 rs773304501 |
146 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs372675860 CA388181716 |
148 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372675860 CA6981794 |
148 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112222038 CA6981795 |
150 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA249354798 rs112222038 |
150 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388181756 rs1217665109 |
151 | C>Y | No |
ClinGen gnomAD |
|
|
rs1276933282 CA388181782 |
153 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777300143 CA6981796 |
155 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs868829047 CA249354812 |
156 | P>Q | No |
ClinGen Ensembl |
|
|
rs148761249 CA6981797 |
158 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA249354820 rs147305724 |
158 | N>T | No |
ClinGen ESP |
|
|
rs1250277941 CA388181924 |
160 | K>N | No |
ClinGen gnomAD |
|
|
CA388181952 rs1594165686 |
163 | N>T | No |
ClinGen Ensembl |
|
|
rs1490972993 CA388181958 |
164 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA388181963 rs1246469760 |
165 | L>V | No |
ClinGen gnomAD |
|
|
CA388181975 rs1477526606 |
166 | Q>H | No |
ClinGen gnomAD |
|
|
rs151314217 CA6981800 |
169 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151314217 CA6981801 |
169 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6981802 rs751102568 |
170 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388182022 rs1188289206 |
173 | F>L | No |
ClinGen TOPMed |
|
|
CA249354859 rs907168287 |
175 | R>T | No |
ClinGen Ensembl |
|
|
CA249354864 rs998891951 |
176 | R>Q | No |
ClinGen Ensembl |
|
|
CA6981805 rs749907751 |
177 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766977541 CA6981804 |
177 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296524911 CA388182053 |
179 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1594165748 CA388182057 |
179 | K>R | No |
ClinGen Ensembl |
|
|
CA388182074 rs1566169262 |
181 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 181 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388182082 rs1342639859 |
183 | H>Y | No |
ClinGen gnomAD |
|
|
CA6981809 rs754663492 |
186 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6981811 rs747151019 |
187 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs766061219 CA249354893 |
188 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs769874000 CA6981813 |
189 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6981814 rs745918185 |
196 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770479822 CA6981815 |
197 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA388182238 rs1217406684 |
200 | R>* | No |
ClinGen gnomAD |
|
|
CA388182239 rs1349313181 |
200 | R>Q | No |
ClinGen TOPMed |
|
|
rs143146165 CA6981818 |
202 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388182258 rs1215285422 |
203 | E>G | No |
ClinGen gnomAD |
|
|
rs774072336 CA6981819 |
203 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761497668 CA6981820 |
207 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201080581 CA6981821 |
207 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA388182355 rs1163766905 |
210 | L>P | No |
ClinGen gnomAD |
|
|
rs1389840425 CA388182371 |
211 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 213 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388182411 rs1566169400 |
214 | C>R | No |
ClinGen Ensembl |
|
|
rs1164323852 CA388182416 |
214 | C>Y | No |
ClinGen TOPMed |
|
|
CA388182428 rs1322252407 |
215 | N>S | No |
ClinGen gnomAD |
|
|
CA388182478 rs1434620656 |
219 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA249354986 rs535327351 |
220 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA249354984 rs535327351 |
220 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 223 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536263204 CA6981824 |
227 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754823908 CA6981826 |
229 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA388182608 rs1193523724 |
230 | L>F | No |
ClinGen gnomAD |
|
|
rs778532738 CA6981827 |
231 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6981828 rs752504406 |
232 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388182630 rs1291999495 |
232 | R>W | No |
ClinGen TOPMed |
|
|
CA388182705 rs781550518 |
234 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373893624 CA6981829 |
234 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6981831 rs746008176 |
235 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388182798 rs1187580030 |
238 | K>E | No |
ClinGen gnomAD |
|
|
rs545118017 CA6981832 |
238 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780619688 CA6981833 |
239 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 239 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749705215 CA6981834 |
240 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749705215 CA388182879 |
240 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554343036 CA6981835 |
241 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1318795132 CA388182929 |
242 | S>Y | No |
ClinGen gnomAD |
|
|
rs941959704 CA249355048 |
245 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 246 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388183099 rs1351974872 |
247 | S>N | No |
ClinGen TOPMed |
|
|
rs1396695623 CA388183122 |
248 | N>S | No |
ClinGen gnomAD |
|
|
rs1324864324 CA388183186 |
251 | E>K | No |
ClinGen TOPMed |
|
|
rs1339264481 CA388183353 |
256 | S>A | No |
ClinGen gnomAD |
|
|
CA388183368 rs1161397624 |
257 | F>V | No |
ClinGen TOPMed |
|
|
CA6981837 rs200847597 |
257 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 261 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388183583 rs1566169591 |
262 | D>G | No |
ClinGen Ensembl |
|
|
rs1189669824 CA388183619 |
263 | S>G | No |
ClinGen TOPMed |
|
|
rs1196026132 CA388183743 |
266 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA388183783 rs1248171118 |
268 | Q>R | No |
ClinGen TOPMed |
|
|
CA6981841 rs765758915 |
270 | K>T | No |
ClinGen ExAC |
|
|
rs1265728409 CA388183913 |
276 | W>* | No |
ClinGen TOPMed |
|
|
rs1200574817 CA388183905 |
276 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | W>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484684737 CA388183931 |
277 | P>L | No |
ClinGen gnomAD |
|
|
CA388183927 rs1254845630 |
277 | P>S | No |
ClinGen gnomAD |
|
|
CA6981844 rs759430953 |
278 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs765198240 CA249355093 |
278 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765198240 CA6981845 |
278 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 279 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6981846 rs752491374 |
279 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1316960778 CA388183963 |
279 | A>V | No |
ClinGen TOPMed |
|
|
CA6981848 rs200221638 |
280 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569763509 CA6981847 |
280 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1172113386 CA388183995 |
281 | N>D | No |
ClinGen gnomAD |
|
|
CA388184045 rs1412298373 |
283 | T>S | No |
ClinGen gnomAD |
|
|
rs1309176926 CA388184066 |
284 | N>S | No |
ClinGen gnomAD |
|
|
rs538044408 CA6981851 |
285 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749369230 CA6981852 |
287 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA249355119 rs767031385 |
288 | M>V | No |
ClinGen Ensembl |
|
|
CA6981853 rs755499596 |
289 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332513911 CA388184134 |
290 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 291 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249355123 rs376227746 |
294 | D>A | No |
ClinGen ESP TOPMed |
|
|
rs779473157 CA6981854 |
295 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1323103120 CA388184230 |
296 | S>T | No |
ClinGen TOPMed |
|
|
rs553999476 CA249355130 |
300 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA249355132 rs1032286546 |
302 | I>T | No |
ClinGen TOPMed |
|
|
CA388184404 rs1482662816 |
302 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779303418 CA6981872 |
305 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748607700 CA6981873 |
306 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1427331277 CA388184700 |
307 | C>R | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770547939 CA6981877 |
313 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 314 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776340808 CA6981878 |
317 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs745373584 CA6981879 |
318 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA388185486 rs1436796473 |
319 | P>L | No |
ClinGen gnomAD |
|
|
CA388185529 rs1212226930 |
322 | S>G | No |
ClinGen gnomAD |
|
|
rs762940271 CA6981882 |
324 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145004345 CA6981883 |
325 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1566171561 CA388185618 |
327 | T>P | No |
ClinGen Ensembl |
|
|
CA249357263 rs1001029709 |
328 | G>R | No |
ClinGen Ensembl |
|
|
CA388185685 rs1215973495 |
330 | K>I | No |
ClinGen gnomAD |
|
|
CA6981885 rs761668068 |
331 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 332 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 333 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6981888 rs759557842 |
336 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6981889 rs765262597 |
337 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1423715367 CA388185851 |
339 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1163280727 CA388185870 |
340 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388185943 rs1406831765 |
346 | S>N | No |
ClinGen gnomAD |
|
|
rs1192746046 CA388185940 |
346 | S>R | No |
ClinGen TOPMed |
|
|
rs1487184310 CA388185948 |
347 | L>F | No |
ClinGen TOPMed |
|
|
CA388185951 rs1265254385 |
347 | L>H | No |
ClinGen TOPMed |
|
|
rs771852760 CA6981903 |
352 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs776751266 CA6981904 |
353 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1359231797 CA388185995 |
353 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs906194981 CA249357739 |
355 | L>F | No |
ClinGen TOPMed |
|
|
CA6981907 rs765423910 |
357 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA249357753 rs752831641 |
359 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA249357758 rs763431063 |
359 | R>Q | No |
ClinGen gnomAD |
|
|
CA6981909 rs763014498 |
360 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 361 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566172031 CA388186042 |
361 | V>L | No |
ClinGen Ensembl |
|
|
rs764588975 CA6981910 |
367 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277421791 CA388186110 |
371 | V>M | No |
ClinGen gnomAD |
|
|
CA249357778 rs763406330 |
373 | K>R | No |
ClinGen Ensembl |
|
|
CA388186181 rs1181959206 |
380 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388186182 rs1231510276 |
381 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs865843868 CA249357781 |
382 | R>C | No |
ClinGen gnomAD |
|
|
rs781575680 CA6981913 |
382 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6981914 rs781575680 |
382 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779851435 CA6981916 |
392 | F>S | No |
ClinGen ExAC TOPMed |
|
|
CA388186270 rs1372378480 |
394 | C>Y | No |
ClinGen gnomAD |
|
|
CA388186281 rs1430311307 |
395 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1223847321 CA388186939 |
400 | L>* | No |
ClinGen TOPMed |
|
|
CA6981928 rs775620891 |
401 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs770067239 CA6981927 |
401 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764110278 CA388186972 |
405 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs764110278 CA6981930 |
405 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6981931 rs73491278 RCV000968266 |
408 | K>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6981932 rs150215314 |
410 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111983452 RCV000973945 CA6981936 |
416 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754567617 CA6981938 |
418 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA388187067 rs1246116291 |
419 | E>* | No |
ClinGen Ensembl |
|
|
rs1353821549 CA388187079 |
420 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA249358803 rs778526695 |
422 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1315626654 CA388187090 |
422 | M>R | No |
ClinGen TOPMed |
|
|
CA6981939 rs778526695 |
422 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs747590747 CA6981940 |
423 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs148270039 CA6981941 |
425 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388187110 rs1401873243 |
425 | I>V | No |
ClinGen TOPMed |
|
|
rs1594174268 CA388187134 |
428 | K>R | No |
ClinGen Ensembl |
|
|
rs1274181930 CA388187224 |
433 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs372787295 CA6981943 |
434 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373805996 CA6981944 |
435 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388187251 rs1381752266 |
435 | A>S | No |
ClinGen gnomAD |
|
|
rs1342831193 CA388187270 |
436 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6981945 rs527462303 |
439 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148980682 CA6981946 |
441 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768832018 CA6981947 |
442 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA388187397 rs1197271418 |
443 | V>G | No |
ClinGen gnomAD |
|
|
CA249358842 rs867886463 |
445 | P>L | No |
ClinGen Ensembl |
|
|
CA388187419 rs1230562579 |
445 | P>S | No |
ClinGen gnomAD |
|
|
CA388187450 rs1253348519 |
447 | G>E | No |
ClinGen gnomAD |
|
|
CA249358849 rs147031136 |
449 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6981950 rs768076449 |
453 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447645771 CA388187580 |
453 | R>T | No |
ClinGen TOPMed |
|
|
rs537458561 CA6981952 |
455 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143741230 CA6981951 |
455 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6981953 rs371526434 |
458 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA249358881 rs762876933 |
458 | E>Q | No |
ClinGen Ensembl |
|
|
CA388187749 rs1413024862 |
460 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA388187751 rs1413024862 |
460 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1264796904 CA388187740 |
460 | C>Y | No |
ClinGen TOPMed |
|
|
rs367576307 CA249358887 |
463 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1453290331 CA388187875 |
465 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6981954 rs754224396 |
466 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA249358895 rs763885886 |
467 | N>S | No |
ClinGen TOPMed |
|
|
CA388187923 rs1464950199 |
469 | K>R | No |
ClinGen gnomAD |
|
|
rs754727078 CA6981955 |
470 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594174480 CA388187950 |
471 | L>F | No |
ClinGen Ensembl |
|
|
rs2057413 VAR_016976 CA6981956 |
473 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6981967 rs768977787 |
474 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6981968 rs778939202 |
475 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369447405 CA6981970 |
476 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396221444 CA388188085 |
477 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6981973 rs11619265 |
484 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773803781 CA6981971 |
484 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs372067844 CA6981974 |
485 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388188215 rs1217214105 |
487 | S>L | No |
ClinGen gnomAD |
|
|
rs1173997624 CA388188223 |
489 | I>V | No |
ClinGen TOPMed |
|
|
CA6981976 rs764945976 |
491 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388188236 rs764945976 |
491 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388188258 rs1169626338 |
494 | S>P | No |
ClinGen TOPMed |
|
|
rs867753566 CA249359215 |
495 | K>R | No |
ClinGen Ensembl |
|
|
rs752231804 CA6981977 |
498 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388188283 rs752231804 |
498 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193813352 CA388188307 |
501 | H>P | No |
ClinGen gnomAD |
|
|
rs762546496 CA6981978 |
502 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763470524 CA6981979 |
503 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs751675287 CA6981982 |
504 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 505 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388188347 rs1594175458 |
506 | M>I | No |
ClinGen Ensembl |
|
| rs768645211 | 506 | M>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768645211 | 506 | M>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249360247 rs985712792 |
508 | F>S | No |
ClinGen gnomAD |
|
|
CA6982019 rs758606958 |
509 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs758606958 CA388189149 |
509 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs756764008 CA249360255 |
511 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs756764008 CA388189189 |
511 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs944528294 CA249360283 |
516 | P>A | No |
ClinGen TOPMed |
|
|
CA388189350 rs1335241311 |
519 | N>S | No |
ClinGen gnomAD |
|
|
CA388189497 rs1386222074 |
526 | R>* | No |
ClinGen TOPMed |
|
|
rs147677097 CA6982023 |
526 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6982024 rs746320918 |
528 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1594178362 CA388189581 |
529 | L>R | No |
ClinGen Ensembl |
|
|
rs770303548 CA6982025 |
532 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6982026 rs775762892 |
533 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs149403331 CA6982027 |
534 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258754730 CA388189734 |
536 | A>T | No |
ClinGen gnomAD |
|
|
CA6982028 rs144862183 |
537 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752509266 CA6982056 |
539 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA249361659 rs1016077093 |
541 | S>C | No |
ClinGen TOPMed |
|
|
CA388190129 rs1194966226 |
541 | S>N | No |
ClinGen Ensembl |
|
|
rs762175819 CA6982057 |
543 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs767834897 CA6982058 |
543 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388190143 rs767834897 |
543 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388190150 rs1443366609 |
544 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 544 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6982059 rs750532667 |
545 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs780436942 CA6982061 |
550 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1263575461 CA388190205 |
551 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA388190202 rs1251030111 |
551 | N>S | No |
ClinGen TOPMed |
|
|
rs755450446 CA6982064 |
552 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs779302960 CA6982065 |
554 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6982067 rs748503460 |
555 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs566370289 CA6982068 |
558 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA249361721 rs996598812 |
559 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA249361729 rs1034219072 |
559 | I>M | No |
ClinGen gnomAD |
|
|
rs200766040 CA6982069 |
559 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6982070 rs148579863 |
560 | D>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA249361735 rs1030300903 |
560 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759585281 CA6982072 |
561 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388190302 rs1436002027 |
561 | I>T | No |
ClinGen gnomAD |
|
|
CA6982071 rs776463370 |
561 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6982074 rs144476564 |
562 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144476564 CA6982073 |
562 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6982075 rs762832771 |
563 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA249361755 rs999576495 |
563 | K>R | No |
ClinGen TOPMed |
|
|
CA6982077 rs767634857 |
568 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs750597360 CA6982078 |
570 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1327587063 CA388190507 |
573 | R>S | No |
ClinGen gnomAD |
|
|
CA6982079 rs760690555 |
574 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268866087 CA388190558 |
576 | Q>R | No |
ClinGen gnomAD |
|
|
CA388190571 rs1357773002 |
577 | A>S | No |
ClinGen gnomAD |
|
|
rs766522702 CA6982080 |
577 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs992083969 CA249361788 |
578 | T>I | No |
ClinGen Ensembl |
|
|
rs1333661408 CA388190606 |
579 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA249361805 rs755541921 |
580 | L>M | No |
ClinGen ExAC TOPMed |
|
|
rs779388876 CA6982083 |
581 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 581 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 585 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753064995 CA6982084 |
586 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA249361816 rs376594256 |
591 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 593 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249361824 rs1024932023 |
597 | Q>* | No |
ClinGen Ensembl |
|
|
rs1192394333 CA388191083 |
599 | G>R | No |
ClinGen gnomAD |
|
|
rs184575306 CA6982085 |
600 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
CA388191088 rs1476078262 |
600 | R>Q | No |
ClinGen gnomAD |
|
|
CA388191098 rs1417465747 |
602 | T>A | No |
ClinGen gnomAD |
|
|
CA249361829 rs866969016 |
603 | A>T | No |
ClinGen TOPMed |
|
|
rs770458141 CA6982088 |
608 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs780803237 CA6982089 |
609 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6982090 rs745358249 |
610 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs563584105 CA6982091 |
611 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775497792 CA6982092 |
612 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA388191268 rs1354493869 |
614 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA388191313 rs1395254508 |
616 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 620 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6982094 rs376400299 |
622 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA388191422 rs1203988100 |
623 | S>A | No |
ClinGen gnomAD |
|
|
CA388191432 rs1283837167 |
623 | S>L | No |
ClinGen gnomAD |
|
|
rs370034829 CA249361873 |
625 | D>G | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 627 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA249361876 rs936877036 |
630 | F>C | No |
ClinGen Ensembl |
|
|
rs373879400 CA6982096 |
631 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388191582 rs1202843332 |
632 | K>R | No |
ClinGen TOPMed |
|
|
CA6982097 rs765968103 |
633 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA249361920 rs1023911910 |
634 | N>S | No |
ClinGen TOPMed |
|
|
CA388191627 rs1233045448 |
635 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 637 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388191670 rs1346183092 |
638 | L>M | No |
ClinGen TOPMed |
|
|
rs1305997843 CA388191699 |
639 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 642 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6982099 rs759545903 |
644 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA388191747 rs1469716426 |
645 | N>S | No |
ClinGen gnomAD |
|
|
CA6982102 rs573356396 |
647 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6982103 rs764557386 |
648 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1374035268 CA388191765 |
648 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388191776 rs1383964151 |
650 | L>I | No |
ClinGen TOPMed |
|
|
CA388191786 rs1330502858 |
651 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767290622 CA6982125 |
655 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1255060863 CA388191848 |
658 | L>V | No |
ClinGen gnomAD |
|
|
CA388191858 rs1416810180 |
659 | L>F | No |
ClinGen TOPMed |
|
|
rs748735356 CA6982129 |
663 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA249363124 rs971062331 |
664 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388191915 rs1396170880 |
668 | H>D | No |
ClinGen gnomAD |
|
|
CA6982133 CA388191920 rs747992296 |
668 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388191926 rs1594186783 |
669 | N>S | No |
ClinGen Ensembl |
|
|
rs1324604521 CA388191923 |
669 | N>Y | No |
ClinGen gnomAD |
|
|
CA6982134 rs371126870 |
671 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 671 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553949960 CA6982135 |
671 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746130802 CA6982136 |
672 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs957522288 CA249363144 |
674 | L>F | No |
ClinGen TOPMed |
|
|
CA6982138 rs775602277 |
674 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA6982139 rs762933863 |
680 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 682 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201429385 CA388192103 |
684 | K>E | No |
ClinGen TOPMed |
|
|
CA388192155 rs1487579188 |
687 | T>A | No |
ClinGen gnomAD |
|
|
CA388192197 rs1258646048 |
690 | T>P | No |
ClinGen gnomAD |
|
|
CA388192271 rs1180940665 |
693 | Y>D | No |
ClinGen gnomAD |
|
|
CA6982162 rs774952492 |
696 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 702 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388192523 rs1379668541 |
703 | K>* | No |
ClinGen gnomAD |
|
|
rs1314566132 CA388192715 |
710 | G>A | No |
ClinGen gnomAD |
|
|
rs1360223400 CA388192759 |
712 | N>S | No |
ClinGen TOPMed |
|
|
CA6982168 rs201750587 |
716 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773780489 CA6982167 |
716 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs766143067 CA6982170 |
718 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 718 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775302281 | 718 | I>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q96T68
4 regional properties for Q96T68
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.366 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| histone methyltransferase activity (H3-K9 specific) | Catalysis of the reaction: S-adenosyl-L-methionine + histone H3 L-lysine (position 9) = S-adenosyl-L-homocysteine + histone H3 N6-methyl-L-lysine (position 9). This reaction is the addition of a methyl group onto lysine at position 9 of the histone H3 protein. |
| histone-lysine N-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + histone L-lysine = S-adenosyl-L-homocysteine + histone N6-methyl-L-lysine. The methylation of peptidyl-lysine in histones forms N6-methyl-L-lysine, N6,N6-dimethyl-L-lysine and N6,N6,N6-trimethyl-L-lysine derivatives. |
| zinc ion binding | Binding to a zinc ion (Zn). |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| chromosome segregation | The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. |
| heart looping | The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation. |
| heterochromatin organization | Any process that results in the specification, formation or maintenance of the physical structure of eukaryotic heterochromatin, a compact and highly condensed form of chromatin. |
| histone H3-K9 methylation | The modification of histone H3 by addition of one or more methyl groups to lysine at position 9 of the histone. |
| left/right axis specification | The establishment, maintenance and elaboration of the left/right axis. The left/right axis is defined by a line that runs orthogonal to both the anterior/posterior and dorsal/ventral axes. Each side is defined from the viewpoint of the organism rather of the observer (as per anatomical axes). |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of DNA methylation-dependent heterochromatin assembly | Any process that increases the rate, frequency, or extent of DNA methylation-dependent heterochromatin formation. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGEKNGDAKT | FWMELEDDGK | VDFIFEQVQN | VLQSLKQKIK | DGSATNKEYI | QAMILVNEAT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IINSSTSIKG | ASQKEVNAQS | SDPMPVTQKE | QENKSNAFPS | TSCENSFPED | CTFLTTENKE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ILSLEDKVVD | FREKDSSSNL | SYQSHDCSGA | CLMKMPLNLK | GENPLQLPIK | CHFQRRHAKT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NSHSSALHVS | YKTPCGRSLR | NVEEVFRYLL | ETECNFLFTD | NFSFNTYVQL | ARNYPKQKEV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VSDVDISNGV | ESVPISFCNE | IDSRKLPQFK | YRKTVWPRAY | NLTNFSSMFT | DSCDCSEGCI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DITKCACLQL | TARNAKTSPL | SSDKITTGYK | YKRLQRQIPT | GIYECSLLCK | CNRQLCQNRV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VQHGPQVRLQ | VFKTEQKGWG | VRCLDDIDRG | TFVCIYSGRL | LSRANTEKSY | GIDENGRDEN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TMKNIFSKKR | KLEVACSDCE | VEVLPLGLET | HPRTAKTEKC | PPKFSNNPKE | LTVETKYDNI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SRIQYHSVIR | DPESKTAIFQ | HNGKKMEFVS | SESVTPEDND | GFKPPREHLN | SKTKGAQKDS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SSNHVDEFED | NLLIESDVID | ITKYREETPP | RSRCNQATTL | DNQNIKKAIE | VQIQKPQEGR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| STACQRQQVF | CDEELLSETK | NTSSDSLTKF | NKGNVFLLDA | TKEGNVGRFL | NHSCCPNLLV |
| 670 | 680 | 690 | 700 | 710 | |
| QNVFVETHNR | NFPLVAFFTN | RYVKARTELT | WDYGYEAGTV | PEKEIFCQCG | VNKCRKKIL |