Q05516
PR
Gene name |
ZBTB16 (PLZF, ZNF145) |
Protein name |
Zinc finger and BTB domain-containing protein 16 |
Names |
Promyelocytic leukemia zinc finger protein, Zinc finger protein 145, Zinc finger protein PLZF |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7704 |
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
3 structures for Q05516
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1BUO | X-ray | 190 A | A | 6-126 | PDB |
| 1CS3 | X-ray | 200 A | A | 7-122 | PDB |
| AF-Q05516-F1 | Predicted | AlphaFoldDB |
433 variants for Q05516
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000014305 CA123071 VAR_054912 rs121434606 |
617 | M>V | Skeletal defects, genital hypoplasia, and intellectual disability SGYMR [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| TCGA novel | 3 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382875883 rs1397511109 |
6 | M>I | No |
ClinGen gnomAD |
|
|
rs1346288382 CA382875882 |
6 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382875878 rs1194921091 |
6 | M>V | No |
ClinGen TOPMed |
|
|
rs1334529185 CA382875886 |
7 | G>S | No |
ClinGen gnomAD |
|
|
rs1335150244 CA382875895 |
8 | M>T | No |
ClinGen gnomAD |
|
|
rs781163861 CA229230816 |
8 | M>V | No |
ClinGen TOPMed |
|
|
rs749597976 CA382875916 |
11 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368808235 CA229230817 |
15 | S>N | No |
ClinGen Ensembl |
|
|
CA382875945 rs368808235 |
15 | S>T | No |
ClinGen Ensembl |
|
|
rs750222546 CA229230819 |
17 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs746529429 CA6284969 |
18 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200118587 CA6284970 |
18 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1228481326 CA382875989 |
22 | C>W | No |
ClinGen TOPMed |
|
|
CA229230820 rs868316695 |
25 | N>H | No |
ClinGen Ensembl |
|
|
rs1180284437 CA382876012 |
26 | Q>E | No |
ClinGen gnomAD |
|
|
CA382876042 rs1591630485 |
30 | A>G | No |
ClinGen Ensembl |
|
|
rs775180791 CA6284975 |
31 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382876050 rs1591630508 |
32 | T>A | No |
ClinGen Ensembl |
|
|
CA382876084 rs1173004161 |
37 | V>I | No |
ClinGen gnomAD |
|
|
CA382876111 rs1591630542 |
40 | V>G | No |
ClinGen Ensembl |
|
|
rs1282244370 CA382876180 |
50 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382876182 rs1439463569 |
50 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1591630598 CA382876190 |
51 | V>G | No |
ClinGen Ensembl |
|
|
CA229230822 rs900549770 |
58 | M>I | No |
ClinGen Ensembl |
|
|
CA6284984 COSM923265 rs754172517 |
65 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1458297420 COSM686292 CA382876292 |
66 | N>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6284985 rs757597954 |
66 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382876293 rs1458297420 |
66 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs779616803 CA6284986 |
68 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1435197148 CA382876314 COSM248403 |
69 | H>N | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6284989 rs201372671 |
69 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746642393 CA6284987 |
69 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs904248155 CA229230824 |
76 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 76 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA229230826 rs112754090 |
88 | Y>H | No |
ClinGen Ensembl |
|
|
CA229230827 rs536319932 |
90 | A>S | No |
ClinGen gnomAD |
|
|
CA6284995 rs774495039 |
91 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA382876476 rs1591630755 |
93 | Q>* | No |
ClinGen Ensembl |
|
|
CA382876481 rs1325466527 |
93 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 94 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772215381 CA382876500 |
96 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772215381 CA6284997 |
96 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382876516 rs1260361986 |
98 | D>E | No |
ClinGen gnomAD |
|
|
rs1489471637 CA382876552 |
104 | Y>C | No |
ClinGen gnomAD |
|
|
CA229230830 rs866272456 |
107 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424060465 CA382876604 |
112 | E>Q | No |
ClinGen gnomAD |
|
|
rs1591630862 CA382876690 |
124 | T>P | No |
ClinGen Ensembl |
|
|
rs780935231 CA6285006 |
126 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs755612134 CA6285008 |
130 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777613573 CA6285009 |
132 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6285010 COSM466345 rs370480903 |
133 | T>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6285012 rs778683444 |
134 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1323609956 CA382876766 |
135 | A>S | No |
ClinGen gnomAD |
|
|
rs879090402 CA229230831 |
135 | A>V | No |
ClinGen Ensembl |
|
|
CA6285014 rs772299551 |
136 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs368029529 CA6285016 |
137 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382876776 rs1487466297 |
137 | M>T | No |
ClinGen gnomAD |
|
|
CA6285015 rs368029529 |
137 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219071581 CA382876786 COSM40776 |
138 | A>V | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 139 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 139 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747091371 CA6285018 |
139 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236392273 CA382876791 |
139 | D>V | No |
ClinGen TOPMed |
|
|
rs1415827464 CA382876802 |
141 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA382876826 rs1377942130 |
144 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1157796896 CA382876824 |
144 | E>G | No |
ClinGen gnomAD |
|
|
rs1421142448 CA382876829 COSM394603 |
145 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1157395168 CA382876839 |
146 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs116000851 CA229230832 |
146 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs1565602954 COSM923267 CA382876847 |
147 | D>G | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6285021 rs368725888 |
148 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6285023 rs763360681 |
148 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763360681 CA6285022 |
148 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229230833 rs546707710 |
149 | K>E | No |
ClinGen Ensembl |
|
|
CA382876861 rs1301425618 |
150 | A>T | No |
ClinGen gnomAD |
|
|
rs753220958 CA382876868 |
151 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382876869 rs753220958 |
151 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6285027 COSM923268 rs753220958 |
151 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6285026 rs755637043 COSM3375653 |
151 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs200811309 CA6285028 |
153 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382876887 rs1425720808 |
154 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6285029 rs778769405 |
155 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA229230834 rs566494971 |
156 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs886294578 CA382876918 |
158 | I>M | No |
ClinGen TOPMed |
|
|
rs1387536862 CA382876916 |
158 | I>T | No |
ClinGen TOPMed |
|
|
COSM923269 CA6285031 rs771820953 |
159 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs747244511 CA6285033 |
161 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA6285034 rs768687989 |
161 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA382876943 rs1439592189 |
162 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 163 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372617173 CA6285037 |
164 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6285036 rs372617173 |
164 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773815142 CA6285038 |
165 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs900475595 CA229230836 |
166 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382876968 rs900475595 |
166 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs775348440 CA6285041 |
170 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs911425305 CA229230837 |
171 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6285042 rs374962005 |
171 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1374800836 CA382877024 |
175 | S>G | No |
ClinGen gnomAD |
|
|
rs763595986 CA6285043 |
175 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA382877029 rs1310037476 |
175 | S>R | No |
ClinGen gnomAD |
|
|
CA6285044 rs753409807 |
176 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA382877036 rs1280477325 |
177 | P>S | No |
ClinGen gnomAD |
|
|
rs765194949 CA6285046 |
178 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382877050 rs1203759033 |
179 | P>L | No |
ClinGen gnomAD |
|
|
rs1565603165 CA382877057 |
180 | M>I | No |
ClinGen Ensembl |
|
|
rs758250448 CA6285048 |
180 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382877070 rs1283259985 |
182 | D>G | No |
ClinGen TOPMed |
|
|
rs1192504595 CA382877085 |
184 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs111746546 CA6285050 |
189 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM686291 rs866604032 CA229230839 |
190 | S>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 192 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA229230840 rs528431486 |
193 | L>H | No |
ClinGen 1000Genomes |
|
| TCGA novel | 193 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746719669 CA6285051 |
193 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1332197252 CA382877148 |
195 | A>T | No |
ClinGen gnomAD |
|
|
CA6285052 rs755245603 |
196 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382877155 rs1299167339 |
196 | M>V | No |
ClinGen TOPMed |
|
|
rs781222692 CA6285053 |
197 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868647600 CA382877173 |
198 | P>H | No |
ClinGen gnomAD |
|
|
rs868647600 CA229230841 |
198 | P>L | No |
ClinGen gnomAD |
|
|
CA382877179 rs1368075577 |
199 | T>I | No |
ClinGen gnomAD |
|
|
CA6285054 rs748290705 |
200 | K>N | No |
ClinGen ExAC |
|
|
rs111515613 CA382877188 |
201 | A>S | No |
ClinGen gnomAD |
|
|
rs111515613 CA229230842 |
201 | A>T | No |
ClinGen gnomAD |
|
|
CA229230843 rs891455814 |
202 | A>S | No |
ClinGen TOPMed |
|
|
CA382877202 rs1406037075 |
203 | V>A | No |
ClinGen TOPMed |
|
|
rs1319989654 CA382877214 |
205 | S>T | No |
ClinGen gnomAD |
|
|
rs1031169456 CA229230844 |
208 | T>P | No |
ClinGen gnomAD |
|
|
rs1031169456 CA229230845 |
208 | T>S | No |
ClinGen gnomAD |
|
|
rs773906781 CA6285056 |
209 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6285055 rs769965545 |
209 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014297432 CA229230846 |
210 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6285057 rs749806742 |
210 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA382877263 rs771495746 |
213 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6285058 rs771495746 |
213 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 215 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6285060 rs759769647 |
216 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1390134595 CA382877286 |
217 | T>A | No |
ClinGen gnomAD |
|
|
CA382877297 rs1403636866 |
219 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763834784 CA6285061 |
221 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA229230848 rs373854559 |
222 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6285062 rs373854559 |
222 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6285063 rs761432881 |
223 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs537020417 CA229230849 |
225 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA382877344 rs1353688652 |
226 | E>D | No |
ClinGen gnomAD |
|
|
CA382877338 rs1283478855 |
226 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA382877346 rs1226308662 |
227 | P>T | No |
ClinGen TOPMed |
|
|
rs550717273 CA6285066 |
228 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 232 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6285069 rs754689881 |
233 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6285071 rs377612552 |
234 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs570528299 CA6285070 COSM1645131 |
234 | R>W | NS [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA382877392 rs756321924 |
235 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756321924 CA6285072 |
235 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382877404 rs1368436455 |
237 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1165127863 CA382877407 |
238 | V>M | No |
ClinGen gnomAD |
|
|
rs749320934 CA6285074 COSM1243008 |
243 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1424601551 CA382877478 |
247 | Q>H | No |
ClinGen TOPMed |
|
|
rs1591631594 CA382877485 |
248 | V>G | No |
ClinGen Ensembl |
|
|
rs1170155591 CA382877502 |
251 | V>M | No |
ClinGen TOPMed |
|
|
CA6285076 rs777155283 |
253 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746281196 CA6285077 |
254 | Q>* | No |
ClinGen ExAC |
|
|
CA382877532 rs1284348957 |
255 | D>G | No |
ClinGen gnomAD |
|
|
CA382877550 rs1352252614 |
258 | G>R | No |
ClinGen gnomAD |
|
|
rs772297979 CA6285078 |
259 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6285079 rs147732000 |
259 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206143172 CA382877566 |
261 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1238134647 CA382877593 |
264 | I>M | No |
ClinGen gnomAD |
|
|
rs1190138780 CA382877590 |
264 | I>N | No |
ClinGen gnomAD |
|
|
rs769371955 CA6285081 |
264 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382446093 CA382877622 |
269 | G>R | No |
ClinGen gnomAD |
|
|
rs1399792834 CA382877638 COSM1321902 |
270 | D>E | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1171843874 CA382877633 |
270 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA382877676 rs1316476027 |
276 | G>S | No |
ClinGen TOPMed |
|
|
rs762403981 CA6285083 |
278 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA382877705 rs1443985311 |
280 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1591631724 CA382877715 |
282 | T>P | No |
ClinGen Ensembl |
|
|
CA382877725 COSM273481 rs1367498920 |
283 | P>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 283 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6285085 rs751421431 |
285 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 288 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255771928 CA382877753 |
288 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA382877763 rs1202730815 |
289 | I>T | No |
ClinGen gnomAD |
|
|
rs1457689348 CA382877786 |
293 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752467707 CA6285088 |
296 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs983811303 CA229230852 |
297 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs925443770 CA229230854 |
299 | R>* | No |
ClinGen TOPMed |
|
|
CA229230855 rs528473096 |
299 | R>P | No |
ClinGen gnomAD |
|
|
rs528473096 CA382877827 |
299 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA382877837 rs1375735901 |
301 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756417781 CA6285090 |
302 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA382877848 rs1172914376 |
302 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 304 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6285092 rs754001710 |
304 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385886510 CA382877878 |
306 | V>G | No |
ClinGen gnomAD |
|
|
rs1376904729 CA382877875 |
306 | V>M | No |
ClinGen gnomAD |
|
|
CA382877881 rs1298674931 |
307 | P>S | No |
ClinGen gnomAD |
|
|
CA6285094 rs199676604 |
308 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382877906 rs746345463 |
311 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA382877902 rs1284305363 |
311 | E>K | No |
ClinGen gnomAD |
|
|
CA6285095 rs746345463 |
311 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1424384866 CA382877911 |
312 | A>S | No |
ClinGen TOPMed |
|
|
CA229230856 rs931952767 |
313 | G>S | No |
ClinGen Ensembl |
|
|
rs1591631882 CA382877923 |
314 | Q>P | No |
ClinGen Ensembl |
|
|
rs747319644 CA6285098 |
315 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769461996 CA6285099 |
315 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382877937 rs1265584836 |
316 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772815592 CA6285101 |
319 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772815592 CA6285100 |
319 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6285102 rs564258270 |
320 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6285103 rs578017107 |
321 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs903894808 CA229230857 |
321 | E>K | No |
ClinGen TOPMed |
|
|
rs903894808 CA382877958 |
321 | E>Q | No |
ClinGen TOPMed |
|
|
rs1476801173 CA382877969 |
322 | H>R | No |
ClinGen gnomAD |
|
|
rs759389820 CA6285104 |
323 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382877979 rs1591631927 |
324 | A>E | No |
ClinGen Ensembl |
|
|
rs377294039 CA6285105 |
324 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752560624 CA382877983 |
325 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229230858 rs1053126094 |
325 | P>H | No |
ClinGen Ensembl |
|
|
rs752560624 CA6285106 |
325 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291261733 CA382877991 |
326 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6285108 rs764450497 |
329 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1304201578 CA382878015 |
330 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6285109 rs754087105 |
332 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1591631959 CA382878043 |
334 | Y>S | No |
ClinGen Ensembl |
|
|
rs757467357 CA6285110 |
335 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6285112 rs140433448 |
336 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780566090 CA6285114 |
339 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747409660 CA6285115 |
339 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382878079 rs1223415234 |
340 | H>R | No |
ClinGen gnomAD |
|
|
CA6285116 rs188510268 |
341 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA382878103 rs145655784 |
343 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6285118 rs373798357 |
344 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420190749 CA382878109 |
345 | V>I | No |
ClinGen gnomAD |
|
|
CA382878118 rs1369696990 |
346 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173910208 CA382878132 |
348 | M>V | No |
ClinGen TOPMed |
|
|
CA382878143 rs1157615272 |
349 | P>L | No |
ClinGen gnomAD |
|
|
CA6285121 rs745333329 |
349 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6285123 rs775536767 |
351 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM248405 rs763964163 CA6285125 |
352 | V>M | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA382878165 rs1245084910 |
353 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA382878168 rs1200620283 |
354 | S>A | No |
ClinGen TOPMed |
|
|
CA6285126 rs777056954 |
357 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs142709090 CA382878192 |
358 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142709090 RCV000966396 CA6285128 |
358 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1247014194 CA382878200 |
359 | Q>P | No |
ClinGen gnomAD |
|
|
COSM273700 rs750494052 CA6285129 |
361 | A>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA382878214 rs1351747171 |
361 | A>V | No |
ClinGen gnomAD |
|
|
rs1355032612 CA382878216 |
362 | L>M | No |
ClinGen TOPMed |
|
|
rs955615317 CA382878221 |
363 | A>S | No |
ClinGen TOPMed |
|
|
rs955615317 CA229230859 |
363 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 366 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370641059 CA229230860 |
371 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6285133 rs755393648 CA6285134 |
372 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA382878283 rs755393648 |
372 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs778586380 CA6285137 |
376 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229230861 rs374279135 |
378 | G>S | No |
ClinGen ESP |
|
|
CA6285138 rs745408754 |
378 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs775622468 CA6285140 |
380 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 387 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382878386 rs144726594 |
388 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 390 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6285144 rs761622998 |
392 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187865108 CA382878415 |
393 | V>M | No |
ClinGen TOPMed |
|
|
rs149262112 CA6285147 |
395 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6285146 rs149262112 |
395 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1254583150 CA382878444 |
397 | S>A | No |
ClinGen TOPMed |
|
|
CA6285149 rs752128636 |
397 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA6285150 rs760042614 |
399 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461690055 CA382878461 |
399 | S>R | No |
ClinGen gnomAD |
|
|
rs1177525752 CA382878462 |
400 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA229230865 rs975898658 |
400 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA382878463 rs1177525752 |
400 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs921794589 CA229230867 |
401 | T>P | No |
ClinGen TOPMed |
|
|
rs533096516 CA6285152 |
402 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6285153 rs533096516 |
402 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs925275405 CA229230869 |
403 | G>A | No |
ClinGen gnomAD |
|
|
rs925275405 CA382878479 |
403 | G>E | No |
ClinGen gnomAD |
|
|
rs949820360 CA229230868 |
403 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs546370662 CA229230870 |
407 | S>R | No |
ClinGen 1000Genomes |
|
|
CA382878529 rs1470582520 |
410 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 410 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382878532 rs1330842316 |
411 | V>I | No |
ClinGen gnomAD |
|
|
CA6285159 rs768739583 |
412 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs368472066 CA6285158 |
412 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6285157 COSM428444 rs779712380 |
412 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781238373 CA6285160 |
413 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6285161 rs747937851 |
413 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA382878556 rs1197856667 |
415 | D>G | No |
ClinGen gnomAD |
|
|
rs769613587 CA6285162 |
415 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs937029523 CA229230871 |
418 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA382878606 rs1172297010 |
422 | H>P | No |
ClinGen TOPMed |
|
|
CA229241694 rs1024815188 |
424 | K>N | No |
ClinGen Ensembl |
|
|
rs371953230 CA229241695 |
427 | S>G | No |
ClinGen ESP |
|
|
CA229241696 rs970063190 |
428 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA382878673 CA6285197 rs750447749 |
429 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA382878687 rs1315113990 COSM923277 |
431 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA382878689 rs1418508445 |
432 | Y>H | No |
ClinGen TOPMed |
|
|
rs1353223217 CA382878698 |
433 | G>E | No |
ClinGen gnomAD |
|
|
rs538741723 COSM1351411 CA229241697 |
433 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1039968348 CA229241698 |
434 | C>F | No |
ClinGen TOPMed |
|
|
CA382878708 rs1441168617 |
435 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6285202 rs746081118 |
438 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA382878745 rs797011179 |
440 | R>L | No |
ClinGen gnomAD |
|
|
rs797011179 CA229241699 |
440 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs141621748 CA6285203 |
440 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6285205 rs747010083 |
446 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6285207 rs776974563 |
450 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 451 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6285208 rs762318942 |
453 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382878841 rs1444149806 |
455 | S>A | No |
ClinGen gnomAD |
|
|
rs1227118864 CA382668951 COSM1351412 |
456 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1565674765 CA382668980 |
458 | A>S | No |
ClinGen Ensembl |
|
|
CA382668987 rs1262441971 COSM1704575 |
458 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1430398474 CA382669005 |
459 | K>N | No |
ClinGen TOPMed |
|
|
CA382669002 rs1271170009 |
459 | K>R | No |
ClinGen TOPMed |
|
|
rs147151121 CA6285231 |
460 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382669042 rs1171983037 |
461 | F>S | No |
ClinGen gnomAD |
|
|
rs1010644921 CA228665861 |
462 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6285232 rs760288157 |
462 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA228665868 rs770948069 |
464 | D>Y | No |
ClinGen Ensembl |
|
|
CA382669101 rs1269178739 |
465 | Q>E | No |
ClinGen gnomAD |
|
|
CA382669155 rs1304112694 |
467 | G>A | No |
ClinGen gnomAD |
|
|
CA6285234 rs753275180 |
467 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003170892 CA228665889 |
469 | Q>R | No |
ClinGen Ensembl |
|
|
COSM923279 CA6285235 rs761753131 COSM175479 |
471 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750247832 CA6285237 |
474 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs780374276 CA6285239 |
478 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751718561 CA6285240 |
481 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1361827071 CA382669884 |
482 | T>I | No |
ClinGen gnomAD |
|
|
CA382669916 rs1484854591 |
484 | T>I | No |
ClinGen gnomAD |
|
|
rs776233271 CA6285270 |
486 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1480403034 CA382676306 |
487 | D>N | No |
ClinGen gnomAD |
|
|
rs747703928 CA6285271 |
488 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773268850 COSM1604131 CA6285273 |
490 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 497 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446868303 COSM3935322 COSM169259 CA382676381 |
498 | R>C | oesophagus large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1444637997 CA382676391 |
499 | F>L | No |
ClinGen gnomAD |
|
|
CA6285276 rs774040543 COSM923280 |
501 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA382676417 rs1224064756 |
503 | S>I | No |
ClinGen TOPMed |
|
|
CA382676419 rs1224064756 |
503 | S>N | No |
ClinGen TOPMed |
|
|
rs752951049 CA382676421 |
503 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382676422 rs1565705590 |
504 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs143447302 CA228684493 COSM109505 COSM109506 |
510 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs568997208 CA228684506 |
513 | A>E | No |
ClinGen 1000Genomes TOPMed |
|
|
rs779436331 COSM3359018 CA6285284 |
513 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM378991 rs568997208 CA382676490 |
513 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed |
|
rs1204705838 CA382676496 |
514 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758738597 CA6285286 |
515 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780881752 CA382676503 |
516 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM2103733 rs747796091 CA6285288 |
516 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs780881752 CA6285287 |
516 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1302661424 CA382676509 |
517 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 519 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382676549 rs1398921304 |
522 | E>G | No |
ClinGen TOPMed |
|
|
CA6285290 rs772611779 |
524 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs748787166 CA6285291 |
525 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6285292 rs762592730 |
525 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA228684555 rs762592730 |
525 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591810578 CA382676571 |
526 | T>P | No |
ClinGen Ensembl |
|
|
CA6285293 rs774317124 |
529 | S>G | No |
ClinGen ExAC |
|
|
rs759456339 CA6285294 |
531 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs767413144 CA6285295 |
534 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1346143359 COSM923282 CA382676633 |
535 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA382676652 rs1202287120 |
538 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| rs111400906 | 542 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6285315 rs768800604 |
543 | D>A | No |
ClinGen ExAC |
|
|
rs1317632077 CA382676757 |
543 | D>N | No |
ClinGen gnomAD |
|
|
rs761856343 CA6285317 |
547 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382676825 rs1216668191 |
548 | C>* | No |
ClinGen gnomAD |
|
|
rs750437883 CA6285319 |
548 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA382676820 rs1392055410 |
548 | C>S | No |
ClinGen gnomAD |
|
|
CA382676861 rs1591814212 |
551 | C>W | No |
ClinGen Ensembl |
|
| TCGA novel | 555 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6285320 rs763464695 |
556 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1298247429 COSM923283 CA382676909 |
556 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1348459888 CA382676954 |
560 | T>A | No |
ClinGen Ensembl |
|
|
rs1365186473 CA382676966 |
561 | L>F | No |
ClinGen TOPMed |
|
|
CA6285322 rs751956247 |
561 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs755342073 CA6285323 |
562 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382676986 rs1156570436 |
563 | S>G | No |
ClinGen gnomAD |
|
|
rs370528130 CA228688470 |
563 | S>R | No |
ClinGen ESP |
|
|
rs115957435 CA6285324 |
567 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1401215838 CA382677054 |
569 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1335503365 CA382677061 |
570 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 575 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145635689 CA6285326 |
575 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1047222 CA228688479 |
580 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 582 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs985318120 CA228688490 |
584 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 587 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 590 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382677338 rs1591814317 |
595 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 612 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387645014 CA382678073 |
614 | Y>H | No |
ClinGen TOPMed |
|
|
rs770987265 CA6285357 |
623 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA382678197 rs1164860413 |
625 | N>S | No |
ClinGen TOPMed |
|
|
COSM686288 CA6285360 rs767860341 RCV000994728 |
628 | S>L | lung Variant assessed as Somatic; 4.636e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs765030832 CA6285363 |
636 | T>R | No |
ClinGen ExAC TOPMed |
|
|
rs868051041 CA228691054 |
640 | P>L | No |
ClinGen Ensembl |
|
|
rs1390463783 CA382678314 |
642 | L>H | No |
ClinGen gnomAD |
|
|
rs1194667119 CA382678310 |
642 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 646 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565710228 COSM130275 CA382678369 COSM130274 |
649 | M>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6285368 rs754967772 |
651 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs755884048 CA6285371 |
655 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1565710254 CA382678419 |
656 | E>D | No |
ClinGen Ensembl |
|
|
CA382678412 rs1297802318 |
656 | E>K | No |
ClinGen gnomAD |
|
|
CA382678440 rs1245442485 COSM923289 |
660 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 661 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6285373 rs749511768 |
662 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382678475 rs1319466694 |
664 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 666 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370636939 CA228691146 |
666 | T>S | No |
ClinGen Ensembl |
|
|
CA6285375 rs774433212 |
667 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1591816714 CA382678492 |
667 | Y>S | No |
ClinGen Ensembl |
|
|
rs1460608642 CA382678528 |
672 | Y>C | No |
ClinGen gnomAD |
|
|
rs1412511383 CA382678532 |
673 | V>M | No |
ClinGen TOPMed |
|
|
CA6285380 rs781449060 |
674 | V>= | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with Q05516
[MIM: 612447]: Skeletal defects, genital hypoplasia, and impaired intellectual development (SGYMR)
A disorder characterized by intellectual disability, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. {ECO:0000269|PubMed:18611983}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by intellectual disability, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. {ECO:0000269|PubMed:18611983}. Note=The disease is caused by variants affecting the gene represented in this entry.
16 regional properties for Q05516
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Krueppel-associated box | 234 - 304 | IPR001909 |
| domain | SCAN domain | 51 - 163 | IPR003309 |
| domain | Zinc finger C2H2-type | 485 - 512 | IPR013087-1 |
| domain | Zinc finger C2H2-type | 513 - 540 | IPR013087-2 |
| domain | Zinc finger C2H2-type | 541 - 568 | IPR013087-3 |
| domain | Zinc finger C2H2-type | 597 - 624 | IPR013087-4 |
| domain | Zinc finger C2H2-type | 625 - 652 | IPR013087-5 |
| domain | Zinc finger C2H2-type | 681 - 708 | IPR013087-6 |
| domain | Zinc finger C2H2-type | 709 - 736 | IPR013087-7 |
| domain | Zinc finger C2H2-type | 762 - 789 | IPR013087-8 |
| domain | Zinc finger C2H2-type | 790 - 817 | IPR013087-9 |
| domain | Zinc finger C2H2-type | 840 - 867 | IPR013087-10 |
| domain | Zinc finger C2H2-type | 868 - 895 | IPR013087-11 |
| domain | Zinc finger C2H2-type | 896 - 923 | IPR013087-12 |
| domain | Zinc finger C2H2-type | 978 - 1005 | IPR013087-13 |
| domain | Zinc finger C2H2-type | 1006 - 1031 | IPR013087-14 |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| male germ cell nucleus | The nucleus of a male germ cell, a reproductive cell in males. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| transcription repressor complex | A protein complex that possesses activity that prevents or downregulates transcription. |
10 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). |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| transcription corepressor binding | Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery. |
28 GO annotations of biological process
| Name | Definition |
|---|---|
| anterior/posterior pattern specification | The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. |
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| cartilage development | The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
| embryonic digit morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe. |
| embryonic hindlimb morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the hindlimbs are generated and organized. The hindlimbs are the posterior limbs of an animal. |
| embryonic pattern specification | The process that results in the patterns of cell differentiation that will arise in an embryo. |
| forelimb morphogenesis | The process in which the anatomical structures of the forelimb are generated and organized. The forelimbs are the front limbs of an animal, e.g. the arms of a human. |
| hemopoiesis | The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
| male germ-line stem cell asymmetric division | The self-renewing division of a germline stem cell in the male gonad, to produce a daughter stem cell and a daughter germ cell, which will divide to form the male gametes. |
| mesonephros development | The process whose specific outcome is the progression of the mesonephros over time, from its formation to the mature structure. In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the mesonephros will form the mature kidney. |
| myeloid cell differentiation | The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| 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 myeloid cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. |
| 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. |
| ossification involved in bone maturation | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in the progression of the skeleton from its formation to its mature state. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of cartilage development | Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. |
| positive regulation of chondrocyte differentiation | Any process that activates or increases the frequency, rate or extent of chondrocyte differentiation. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of fat cell differentiation | Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. |
| positive regulation of NK T cell differentiation | Any process that activates or increases the frequency, rate or extent of natural killer T cell differentiation. |
| positive regulation of ossification | Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| protein localization to nucleus | A process in which a protein transports or maintains the localization of another protein to the nucleus. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
177 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q08DS3 | OSR1 | Protein odd-skipped-related 1 | Bos taurus (Bovine) | PR |
| Q2VWH6 | FEZF2 | Fez family zinc finger protein 2 | Bos taurus (Bovine) | PR |
| A6QNZ0 | ZSCAN26 | Zinc finger and SCAN domain-containing protein 26 | Bos taurus (Bovine) | PR |
| A7MBI1 | ZFP69 | Zinc finger protein 69 homolog | Bos taurus (Bovine) | PR |
| Q08705 | CTCF | Transcriptional repressor CTCF | Gallus gallus (Chicken) | PR |
| O42409 | GFI1B | Zinc finger protein Gfi-1b | Gallus gallus (Chicken) | PR |
| A2T6W2 | ZNF449 | Zinc finger protein 449 | Pan troglodytes (Chimpanzee) | PR |
| Q9U405 | grau | Transcription factor grauzone | Drosophila melanogaster (Fruit fly) | PR |
| Q7K0S9 | sug | Zinc finger protein GLIS2 homolog | Drosophila melanogaster (Fruit fly) | PR |
| P20385 | Cf2 | Chorion transcription factor Cf2 | Drosophila melanogaster (Fruit fly) | PR |
| Q86P48 | ATbp | AT-rich binding protein | Drosophila melanogaster (Fruit fly) | PR |
| P28698 | MZF1 | Myeloid zinc finger 1 | Homo sapiens (Human) | PR |
| Q9NTW7 | ZFP64 | Zinc finger protein 64 | Homo sapiens (Human) | PR |
| O14978 | ZNF263 | Zinc finger protein 263 | Homo sapiens (Human) | PR |
| O60304 | ZNF500 | Zinc finger protein 500 | Homo sapiens (Human) | PR |
| P08151 | GLI1 | Zinc finger protein GLI1 | Homo sapiens (Human) | PR |
| Q9UFB7 | ZBTB47 | Zinc finger and BTB domain-containing protein 47 | Homo sapiens (Human) | PR |
| P18146 | EGR1 | Early growth response protein 1 | Homo sapiens (Human) | PR |
| Q9Y5W3 | KLF2 | Krueppel-like factor 2 | Homo sapiens (Human) | PR |
| Q9UNY5 | ZNF232 | Zinc finger protein 232 | Homo sapiens (Human) | PR |
| Q96SZ4 | ZSCAN10 | Zinc finger and SCAN domain-containing protein 10 | Homo sapiens (Human) | PR |
| P17028 | ZNF24 | Zinc finger protein 24 | Homo sapiens (Human) | PR |
| P57682 | KLF3 | Krueppel-like factor 3 | Homo sapiens (Human) | PR |
| P25490 | YY1 | Transcriptional repressor protein YY1 | Homo sapiens (Human) | SS |
| O43296 | ZNF264 | Zinc finger protein 264 | Homo sapiens (Human) | PR |
| P49711 | CTCF | Transcriptional repressor CTCF | Homo sapiens (Human) | PR |
| Q9NQX1 | PRDM5 | PR domain zinc finger protein 5 | Homo sapiens (Human) | PR |
| Q9HBE1 | PATZ1 | POZ-, AT hook-, and zinc finger-containing protein 1 | Homo sapiens (Human) | PR |
| Q8TAX0 | OSR1 | Protein odd-skipped-related 1 | Homo sapiens (Human) | PR |
| Q9UL58 | ZNF215 | Zinc finger protein 215 | Homo sapiens (Human) | PR |
| Q8TBJ5 | FEZF2 | Fez family zinc finger protein 2 | Homo sapiens (Human) | PR |
| Q96SR6 | ZNF382 | Zinc finger protein 382 | Homo sapiens (Human) | PR |
| Q96IT1 | ZNF496 | Zinc finger protein 496 | Homo sapiens (Human) | PR |
| Q96N95 | ZNF396 | Zinc finger protein 396 | Homo sapiens (Human) | PR |
| Q9ULJ3 | ZBTB21 | Zinc finger and BTB domain-containing protein 21 | Homo sapiens (Human) | PR |
| O75840 | KLF7 | Krueppel-like factor 7 | Homo sapiens (Human) | PR |
| Q9H9D4 | ZNF408 | Zinc finger protein 408 | Homo sapiens (Human) | PR |
| Q13127 | REST | RE1-silencing transcription factor | Homo sapiens (Human) | PR |
| Q8IZM8 | ZNF654 | Zinc finger protein 654 | Homo sapiens (Human) | PR |
| Q14526 | HIC1 | Hypermethylated in cancer 1 protein | Homo sapiens (Human) | PR |
| P17022 | ZNF18 | Zinc finger protein 18 | Homo sapiens (Human) | PR |
| Q86XF7 | ZNF575 | Zinc finger protein 575 | Homo sapiens (Human) | PR |
| Q06889 | EGR3 | Early growth response protein 3 | Homo sapiens (Human) | PR |
| Q8NAM6 | ZSCAN4 | Zinc finger and SCAN domain-containing protein 4 | Homo sapiens (Human) | PR |
| Q08ER8 | ZNF543 | Zinc finger protein 543 | Homo sapiens (Human) | PR |
| P17029 | ZKSCAN1 | Zinc finger protein with KRAB and SCAN domains 1 | Homo sapiens (Human) | PR |
| Q8N680 | ZBTB2 | Zinc finger and BTB domain-containing protein 2 | Homo sapiens (Human) | PR |
| O95625 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens (Human) | PR |
| Q9NPC7 | MYNN | Myoneurin | Homo sapiens (Human) | PR |
| Q96BV0 | ZNF775 | Zinc finger protein 775 | Homo sapiens (Human) | PR |
| Q8NF99 | ZNF397 | Zinc finger protein 397 | Homo sapiens (Human) | PR |
| Q63HK3 | ZKSCAN2 | Zinc finger protein with KRAB and SCAN domains 2 | Homo sapiens (Human) | PR |
| Q5FWF6 | ZNF789 | Zinc finger protein 789 | Homo sapiens (Human) | PR |
| Q15776 | ZKSCAN8 | Zinc finger protein with KRAB and SCAN domains 8 | Homo sapiens (Human) | PR |
| Q53GI3 | ZNF394 | Zinc finger protein 394 | Homo sapiens (Human) | PR |
| O95125 | ZNF202 | Zinc finger protein 202 | Homo sapiens (Human) | PR |
| Q9H116 | GZF1 | GDNF-inducible zinc finger protein 1 | Homo sapiens (Human) | PR |
| Q8N0Y2 | ZNF444 | Zinc finger protein 444 | Homo sapiens (Human) | PR |
| Q6P9G9 | ZNF449 | Zinc finger protein 449 | Homo sapiens (Human) | PR |
| Q8IW36 | ZNF695 | Zinc finger protein 695 | Homo sapiens (Human) | PR |
| Q6PG37 | ZNF790 | Zinc finger protein 790 | Homo sapiens (Human) | PR |
| Q9NQV6 | PRDM10 | PR domain zinc finger protein 10 | Homo sapiens (Human) | PR |
| Q9Y2D9 | ZNF652 | Zinc finger protein 652 | Homo sapiens (Human) | PR |
| Q5TC79 | ZBTB37 | Zinc finger and BTB domain-containing protein 37 | Homo sapiens (Human) | PR |
| Q9Y4E5 | ZNF451 | E3 SUMO-protein ligase ZNF451 | Homo sapiens (Human) | PR |
| Q8ND82 | ZNF280C | Zinc finger protein 280C | Homo sapiens (Human) | PR |
| Q49AA0 | ZFP69 | Zinc finger protein 69 homolog | Homo sapiens (Human) | PR |
| O43298 | ZBTB43 | Zinc finger and BTB domain-containing protein 43 | Homo sapiens (Human) | PR |
| Q9Y330 | ZBTB12 | Zinc finger and BTB domain-containing protein 12 | Homo sapiens (Human) | PR |
| Q13105 | ZBTB17 | Zinc finger and BTB domain-containing protein 17 | Homo sapiens (Human) | PR |
| P51508 | ZNF81 | Zinc finger protein 81 | Homo sapiens (Human) | PR |
| Q5JNZ3 | ZNF311 | Zinc finger protein 311 | Homo sapiens (Human) | PR |
| Q9BRR0 | ZKSCAN3 | Zinc finger protein with KRAB and SCAN domains 3 | Homo sapiens (Human) | PR |
| Q969J2 | ZKSCAN4 | Zinc finger protein with KRAB and SCAN domains 4 | Homo sapiens (Human) | PR |
| P49910 | ZNF165 | Zinc finger protein 165 | Homo sapiens (Human) | PR |
| Q9Y4X4 | KLF12 | Krueppel-like factor 12 | Homo sapiens (Human) | PR |
| P10074 | ZBTB48 | Telomere zinc finger-associated protein | Homo sapiens (Human) | PR |
| P17010 | ZFX | Zinc finger X-chromosomal protein | Homo sapiens (Human) | PR |
| Q9H5H4 | ZNF768 | Zinc finger protein 768 | Homo sapiens (Human) | PR |
| Q6NSZ9 | ZSCAN25 | Zinc finger and SCAN domain-containing protein 25 | Homo sapiens (Human) | PR |
| Q9Y2L8 | ZKSCAN5 | Zinc finger protein with KRAB and SCAN domains 5 | Homo sapiens (Human) | PR |
| Q86UZ6 | ZBTB46 | Zinc finger and BTB domain-containing protein 46 | Homo sapiens (Human) | PR |
| Q9NX65 | ZSCAN32 | Zinc finger and SCAN domain-containing protein 32 | Homo sapiens (Human) | PR |
| O14771 | ZNF213 | Zinc finger protein 213 | Homo sapiens (Human) | PR |
| Q8IWY8 | ZSCAN29 | Zinc finger and SCAN domain-containing protein 29 | Homo sapiens (Human) | PR |
| Q8NCP5 | ZBTB44 | Zinc finger and BTB domain-containing protein 44 | Homo sapiens (Human) | PR |
| P41182 | BCL6 | B-cell lymphoma 6 protein | Homo sapiens (Human) | PR |
| Q9NQX0 | PRDM6 | Putative histone-lysine N-methyltransferase PRDM6 | Homo sapiens (Human) | PR |
| Q9BU19 | ZNF692 | Zinc finger protein 692 | Homo sapiens (Human) | PR |
| Q08AG5 | ZNF844 | Zinc finger protein 844 | Homo sapiens (Human) | PR |
| Q6R2W3 | ZBED9 | SCAN domain-containing protein 3 | Homo sapiens (Human) | PR |
| P98182 | ZNF200 | Zinc finger protein 200 | Homo sapiens (Human) | PR |
| Q9UK11 | ZNF223 | Zinc finger protein 223 | Homo sapiens (Human) | PR |
| O15156 | ZBTB7B | Zinc finger and BTB domain-containing protein 7B | Homo sapiens (Human) | PR |
| Q6ZMS7 | ZNF783 | Zinc finger protein 783 | Homo sapiens (Human) | PR |
| P59923 | ZNF445 | Zinc finger protein 445 | Homo sapiens (Human) | PR |
| Q8N859 | ZNF713 | Zinc finger protein 713 | Homo sapiens (Human) | PR |
| Q99612 | KLF6 | Krueppel-like factor 6 | Homo sapiens (Human) | PR |
| Q8TD17 | ZNF398 | Zinc finger protein 398 | Homo sapiens (Human) | PR |
| P52739 | ZNF131 | Zinc finger protein 131 | Homo sapiens (Human) | PR |
| A6NGD5 | ZSCAN5C | Zinc finger and SCAN domain-containing protein 5C | Homo sapiens (Human) | PR |
| Q05215 | EGR4 | Early growth response protein 4 | Homo sapiens (Human) | PR |
| Q7Z398 | ZNF550 | Zinc finger protein 550 | Homo sapiens (Human) | PR |
| Q9Y2K1 | ZBTB1 | Zinc finger and BTB domain-containing protein 1 | Homo sapiens (Human) | PR |
| Q96N20 | ZNF75A | Zinc finger protein 75A | Homo sapiens (Human) | PR |
| A6NJL1 | ZSCAN5B | Zinc finger and SCAN domain-containing protein 5B | Homo sapiens (Human) | PR |
| A1YPR0 | ZBTB7C | Zinc finger and BTB domain-containing protein 7C | Homo sapiens (Human) | PR |
| Q9NWS9 | ZNF446 | Zinc finger protein 446 | Homo sapiens (Human) | PR |
| P24278 | ZBTB25 | Zinc finger and BTB domain-containing protein 25 | Homo sapiens (Human) | PR |
| Q96N38 | ZNF714 | Zinc finger protein 714 | Homo sapiens (Human) | PR |
| Q86YH2 | ZNF280B | Zinc finger protein 280B | Homo sapiens (Human) | PR |
| Q5VTD9 | GFI1B | Zinc finger protein Gfi-1b | Homo sapiens (Human) | PR |
| O08584 | Klf6 | Krueppel-like factor 6 | Mus musculus (Mouse) | PR |
| Q61164 | Ctcf | Transcriptional repressor CTCF | Mus musculus (Mouse) | PR |
| Q810A1 | Znf18 | Zinc finger protein 18 | Mus musculus (Mouse) | PR |
| Q8BGS3 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Mus musculus (Mouse) | PR |
| Q00899 | Yy1 | Transcriptional repressor protein YY1 | Mus musculus (Mouse) | PR |
| P41183 | Bcl6 | B-cell lymphoma 6 protein homolog | Mus musculus (Mouse) | PR |
| Q9DAI4 | Zbtb43 | Zinc finger and BTB domain-containing protein 43 | Mus musculus (Mouse) | PR |
| O70237 | Gfi1b | Zinc finger protein Gfi-1b | Mus musculus (Mouse) | PR |
| Q99KZ6 | Znf639 | Zinc finger protein 639 | Mus musculus (Mouse) | PR |
| Q9Z1D9 | Znf394 | Zinc finger protein 394 | Mus musculus (Mouse) | PR |
| Q9CXE0 | Prdm5 | PR domain zinc finger protein 5 | Mus musculus (Mouse) | PR |
| P43300 | Egr3 | Early growth response protein 3 | Mus musculus (Mouse) | PR |
| Q9DAU9 | Znf654 | Zinc finger protein 654 | Mus musculus (Mouse) | PR |
| Q9R1Y5 | Hic1 | Hypermethylated in cancer 1 protein | Mus musculus (Mouse) | PR |
| Q8R0T2 | Znf768 | Zinc finger protein 768 | Mus musculus (Mouse) | PR |
| Q9WVG7 | Osr1 | Protein odd-skipped-related 1 | Mus musculus (Mouse) | PR |
| Q8BI73 | Znf775 | Zinc finger protein 775 | Mus musculus (Mouse) | PR |
| Q8VCZ7 | Zbtb7c | Zinc finger and BTB domain-containing protein 7C | Mus musculus (Mouse) | PR |
| Q91VN1 | Znf24 | Zinc finger protein 24 | Mus musculus (Mouse) | PR |
| Q9DB38 | Znf580 | Zinc finger protein 580 | Mus musculus (Mouse) | PR |
| A7KBS4 | Zscan4d | Zinc finger and SCAN domain containing protein 4D | Mus musculus (Mouse) | PR |
| Q91VW9 | Zkscan3 | Zinc finger protein with KRAB and SCAN domains 3 | Mus musculus (Mouse) | PR |
| P10925 | Zfy1 | Zinc finger Y-chromosomal protein 1 | Mus musculus (Mouse) | PR |
| P08046 | Egr1 | Early growth response protein 1 | Mus musculus (Mouse) | PR |
| Q3TTC2 | Yy2 | Transcription factor YY2 | Mus musculus (Mouse) | PR |
| Q3UTQ7 | Prdm10 | PR domain zinc finger protein 10 | Mus musculus (Mouse) | PR |
| Q6P3Y5 | Znf280c | Zinc finger protein 280C | Mus musculus (Mouse) | PR |
| Q9ERU3 | Znf22 | Zinc finger protein 22 | Mus musculus (Mouse) | PR |
| Q8VIG1 | Rest | RE1-silencing transcription factor | Mus musculus (Mouse) | PR |
| Q9Z1D8 | Zkscan5 | Zinc finger protein with KRAB and SCAN domains 5 | Mus musculus (Mouse) | PR |
| Q8BID6 | Zbtb46 | Zinc finger and BTB domain-containing protein 46 | Mus musculus (Mouse) | PR |
| P17012 | Zfx | Zinc finger X-chromosomal protein | Mus musculus (Mouse) | PR |
| Q9WUK6 | Zbtb18 | Zinc finger and BTB domain-containing protein 18 | Mus musculus (Mouse) | PR |
| O35738 | Klf12 | Krueppel-like factor 12 | Mus musculus (Mouse) | PR |
| B2RXC5 | Znf382 | Zinc finger protein 382 | Mus musculus (Mouse) | PR |
| O08900 | Ikzf3 | Zinc finger protein Aiolos | Mus musculus (Mouse) | PR |
| Q5DU09 | Znf652 | Zinc finger protein 652 | Mus musculus (Mouse) | PR |
| Q5RJ54 | Zscan26 | Zinc finger and SCAN domain-containing protein 26 | Mus musculus (Mouse) | PR |
| Q8BLM0 | Klf8 | Krueppel-like factor 8 | Mus musculus (Mouse) | PR |
| Q99JB0 | Klf7 | Krueppel-like factor 7 | Mus musculus (Mouse) | PR |
| Q8R0A2 | Zbtb44 | Zinc finger and BTB domain-containing protein 44 | Mus musculus (Mouse) | PR |
| P20662 | Zfy2 | Zinc finger Y-chromosomal protein 2 | Mus musculus (Mouse) | PR |
| Q80VJ6 | Zscan4c | Zinc finger and SCAN domain containing protein 4C | Mus musculus (Mouse) | PR |
| Q3URS2 | Zscan4f | Zinc finger and SCAN domain containing protein 4F | Mus musculus (Mouse) | PR |
| Q60980 | Klf3 | Krueppel-like factor 3 | Mus musculus (Mouse) | PR |
| Q8K3J5 | Znf131 | Zinc finger protein 131 | Mus musculus (Mouse) | PR |
| Q9Z2K3 | Znf394 | Zinc finger protein 394 | Rattus norvegicus (Rat) | PR |
| Q642B9 | Znf18 | Zinc finger protein 18 | Rattus norvegicus (Rat) | PR |
| B0K011 | Osr1 | Protein odd-skipped-related 1 | Rattus norvegicus (Rat) | PR |
| D3ZUU2 | Gzf1 | GDNF-inducible zinc finger protein 1 | Rattus norvegicus (Rat) | PR |
| B1WBU4 | Zbtb8a | Zinc finger and BTB domain-containing protein 8A | Rattus norvegicus (Rat) | PR |
| Q7TNK3 | Znf24 | Zinc finger protein 24 | Rattus norvegicus (Rat) | PR |
| O35819 | Klf6 | Krueppel-like factor 6 | Rattus norvegicus (Rat) | PR |
| Q9R1D1 | Ctcf | Transcriptional repressor CTCF | Rattus norvegicus (Rat) | PR |
| P43301 | Egr3 | Early growth response protein 3 | Rattus norvegicus (Rat) | PR |
| P08154 | Egr1 | Early growth response protein 1 | Rattus norvegicus (Rat) | PR |
| A0JPL0 | Znf382 | Zinc finger protein 382 | Rattus norvegicus (Rat) | PR |
| Q4KLI1 | Zkscan1 | Zinc finger protein with KRAB and SCAN domains 1 | Rattus norvegicus (Rat) | PR |
| A1L1J6 | Znf652 | Zinc finger protein 652 | Rattus norvegicus (Rat) | PR |
| Q9SHD0 | ZAT4 | Zinc finger protein ZAT4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q0P4X6 | zbtb44 | Zinc finger and BTB domain-containing protein 44 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| A4II20 | egr1 | Early growth response protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q6P882 | zbtb8a.2 | Zinc finger and BTB domain-containing protein 8A.2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q567C6 | znf367 | Zinc finger protein 367 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A7Y7X5 | znf711 | Zinc finger protein 711 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDLTKMGMIQ | LQNPSHPTGL | LCKANQMRLA | GTLCDVVIMV | DSQEFHAHRT | VLACTSKMFE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILFHRNSQHY | TLDFLSPKTF | QQILEYAYTA | TLQAKAEDLD | DLLYAAEILE | IEYLEEQCLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MLETIQASDD | NDTEATMADG | GAEEEEDRKA | RYLKNIFISK | HSSEESGYAS | VAGQSLPGPM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VDQSPSVSTS | FGLSAMSPTK | AAVDSLMTIG | QSLLQGTLQP | PAGPEEPTLA | GGGRHPGVAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VKTEMMQVDE | VPSQDSPGAA | ESSISGGMGD | KVEERGKEGP | GTPTRSSVIT | SARELHYGRE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ESAEQVPPPA | EAGQAPTGRP | EHPAPPPEKH | LGIYSVLPNH | KADAVLSMPS | SVTSGLHVQP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ALAVSMDFST | YGGLLPQGFI | QRELFSKLGE | LAVGMKSESR | TIGEQCSVCG | VELPDNEAVE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QHRKLHSGMK | TYGCELCGKR | FLDSLRLRMH | LLAHSAGAKA | FVCDQCGAQF | SKEDALETHR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QTHTGTDMAV | FCLLCGKRFQ | AQSALQQHME | VHAGVRSYIC | SECNRTFPSH | TALKRHLRSH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TGDHPYECEF | CGSCFRDEST | LKSHKRIHTG | EKPYECNGCG | KKFSLKHQLE | THYRVHTGEK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PFECKLCHQR | SRDYSAMIKH | LRTHNGASPY | QCTICTEYCP | SLSSMQKHMK | GHKPEEIPPD |
| 670 | |||||
| WRIEKTYLYL | CYV |