Q9H116
PR
Gene name |
GZF1 |
Protein name |
GDNF-inducible zinc finger protein 1 |
Names |
Zinc finger and BTB domain-containing protein 23, Zinc finger protein 336 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64412 |
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
1 structures for Q9H116
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H116-F1 | Predicted | AlphaFoldDB |
535 variants for Q9H116
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001871882 CA9788518 RCV001336060 rs139704196 |
164 | R>K | Joint laxity, short stature, and myopia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA408410496 rs1555786618 RCV000505270 |
289 | E>* | Joint laxity, short stature, and myopia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_080250 | 289 | E>del | JLSM [UniProt] | Yes | UniProt |
|
RCV001336584 rs760116028 |
327 | L>V | Joint laxity, short stature, and myopia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555786729 RCV000505273 |
352 | T>missing | Joint laxity, short stature, and myopia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1981249178 RCV001329283 |
412 | C>S | Joint laxity, short stature, and myopia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9788446 rs756606093 |
2 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs576902241 CA408408454 |
3 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA313539801 rs946913529 |
4 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs946913529 CA408408459 |
4 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9788448 rs754403991 |
5 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388683422 CA408408522 |
9 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9788451 rs752921068 |
11 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs148101388 CA9788450 |
11 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408408566 rs1264851495 |
14 | P>S | No |
ClinGen gnomAD |
|
|
CA9788456 rs770778427 |
18 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1468045013 CA408408698 |
23 | E>K | No |
ClinGen gnomAD |
|
|
CA408408716 rs1255416669 |
24 | L>F | No |
ClinGen TOPMed |
|
|
rs140549788 CA9788457 |
25 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745818348 CA9788458 |
25 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 26 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788460 rs774832417 |
28 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA408408763 rs1275147988 |
29 | H>N | No |
ClinGen TOPMed |
|
|
rs1162238866 CA408408828 |
38 | E>G | No |
ClinGen gnomAD |
|
|
CA408408844 rs1396192150 |
40 | Q>R | No |
ClinGen gnomAD |
|
|
CA408408856 rs1387032661 |
42 | V>F | No |
ClinGen gnomAD |
|
|
CA9788465 rs372760791 |
43 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754352875 CA9788466 |
43 | R>H | No |
ClinGen ExAC |
|
|
CA408408877 rs1431316155 |
45 | D>V | No |
ClinGen TOPMed |
|
|
rs760155848 CA9788467 |
47 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs375983173 CA9788468 |
50 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758561145 CA9788470 |
52 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA408408960 rs1357284136 |
58 | K>E | No |
ClinGen gnomAD |
|
|
rs756987103 CA9788473 |
58 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780987756 CA9788474 |
59 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA9788475 rs745765108 |
63 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9788476 rs769598052 |
65 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1179228082 CA408409015 |
66 | N>H | No |
ClinGen gnomAD |
|
|
CA9788477 rs780098479 |
66 | N>K | No |
ClinGen ExAC |
|
|
CA408409024 rs1257415109 |
67 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA408409022 rs1257415109 |
67 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9788478 rs560543912 |
68 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9788479 rs768219558 |
68 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9788480 rs774092249 |
69 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1190224812 CA408409038 |
69 | S>I | No |
ClinGen TOPMed |
|
|
CA408409060 rs1166898979 |
72 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9788481 rs563699571 |
73 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138988702 CA9788482 |
75 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs545992812 CA9788483 |
76 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA313540143 rs976318007 |
84 | V>L | No |
ClinGen gnomAD |
|
|
CA408409162 rs1245515910 COSM1239042 |
87 | F>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA313540171 rs879374128 |
91 | L>P | No |
ClinGen Ensembl |
|
|
rs1341799966 CA408409186 |
91 | L>V | No |
ClinGen gnomAD |
|
|
rs1389252853 CA408409209 |
94 | V>A | No |
ClinGen TOPMed |
|
|
CA9788490 rs143111256 |
94 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_064718 | 97 | A>V | found in a renal cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1458906599 CA408409233 |
98 | K>E | No |
ClinGen TOPMed |
|
|
CA408409259 rs1257499655 |
102 | E>K | No |
ClinGen gnomAD |
|
|
rs370627382 CA313540186 |
104 | D>E | No |
ClinGen Ensembl |
|
|
rs779791091 CA9788494 |
104 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs374755807 CA408409281 |
105 | R>G | No |
ClinGen TOPMed |
|
|
rs749264121 CA9788495 |
105 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9788498 rs747704995 |
108 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1374584860 CA408409300 |
108 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1181367744 CA408409309 |
109 | M>I | No |
ClinGen TOPMed |
|
|
CA408409305 rs1432658005 |
109 | M>V | No |
ClinGen gnomAD |
|
|
rs1314590419 CA408409341 |
114 | E>G | No |
ClinGen gnomAD |
|
|
CA408409382 rs1269273026 |
120 | D>H | No |
ClinGen TOPMed |
|
|
rs1381703410 CA408409392 |
121 | L>S | No |
ClinGen gnomAD |
|
|
rs1210194438 CA408409414 |
124 | T>S | No |
ClinGen TOPMed |
|
|
rs773053982 CA9788500 |
125 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408409423 rs1328389936 |
126 | F>I | No |
ClinGen gnomAD |
|
|
CA313540283 rs189316929 |
126 | F>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1302977801 CA408409435 |
127 | Q>R | No |
ClinGen gnomAD |
|
|
CA313540284 rs988499404 |
128 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746210854 CA9788502 |
129 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9788503 rs770197032 |
131 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA408409466 rs1329236965 |
132 | M>L | No |
ClinGen TOPMed |
|
|
CA408409486 rs1465888988 |
134 | E>G | No |
ClinGen gnomAD |
|
|
rs866817750 CA313540301 |
136 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408409504 rs1452331092 |
137 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1452331092 CA408409505 |
137 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA313540308 rs548202788 |
138 | L>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA408409520 rs1378107567 |
139 | E>D | No |
ClinGen gnomAD |
|
|
CA408409540 rs1218555259 |
142 | N>S | No |
ClinGen gnomAD |
|
|
rs1325992591 CA408409550 COSM1025199 |
143 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1394140623 CA408409562 |
145 | E>G | No |
ClinGen TOPMed |
|
|
CA9788506 rs764118632 |
147 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA408409576 rs1325406413 |
147 | Q>L | No |
ClinGen gnomAD |
|
|
CA408409575 rs1325406413 |
147 | Q>R | No |
ClinGen gnomAD |
|
|
rs946967452 CA313540388 |
148 | E>K | No |
ClinGen Ensembl |
|
|
rs774382390 CA9788507 |
149 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1284768178 CA408409588 |
149 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761939271 CA9788508 |
150 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767723250 CA9788509 |
151 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9788510 rs767723250 |
151 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 152 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 152 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755810794 CA9788511 |
152 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408409611 rs1237451520 |
153 | S>G | No |
ClinGen gnomAD |
|
|
rs1490540641 CA408409622 |
154 | G>V | No |
ClinGen gnomAD |
|
|
rs766222115 CA9788512 |
157 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA408409637 rs766222115 |
157 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9788513 rs753682536 |
158 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408409656 rs1465804433 |
160 | A>P | No |
ClinGen gnomAD |
|
|
rs1251989523 CA408409666 |
161 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408409663 rs1208819145 |
161 | P>S | No |
ClinGen gnomAD |
|
|
rs754917634 CA9788514 |
162 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1192688045 CA408409673 |
163 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs181976274 CA9788515 |
163 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
rs1156760274 CA408409694 |
166 | S>I | No |
ClinGen gnomAD |
|
|
CA9788519 rs777498440 |
166 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA408409689 rs1210585382 |
166 | S>R | No |
ClinGen TOPMed |
|
|
CA408409712 rs1457824230 |
169 | T>I | No |
ClinGen gnomAD |
|
|
COSM1209239 rs372556804 CA9788522 |
170 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA313540611 rs372556804 |
170 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756084011 CA9788523 |
171 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896575394 CA313540665 |
172 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1437975731 CA408409732 |
173 | H>Y | No |
ClinGen TOPMed |
|
|
rs375809914 CA9788524 |
175 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774906859 CA9788525 |
176 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1330490510 CA408409755 |
176 | G>V | No |
ClinGen gnomAD |
|
|
CA9788526 rs369155120 |
178 | T>A | No |
ClinGen ESP ExAC |
|
|
rs767598898 CA9788527 |
178 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs760991420 CA9788529 |
180 | S>C | No |
ClinGen ExAC |
|
|
CA408409784 rs1156506167 |
181 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9788531 rs753648965 |
182 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150596910 CA313540707 |
183 | Y>C | No |
ClinGen ESP gnomAD |
|
|
CA313540728 rs374194682 |
186 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 187 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788533 rs546744247 |
187 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA313540755 rs868043734 |
188 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 188 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788535 rs752683173 |
189 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs3810574 CA9788536 RCV000889832 VAR_052735 |
190 | N>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777363362 CA9788537 |
191 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1190242455 CA408409855 |
192 | M>I | No |
ClinGen TOPMed |
|
|
CA408409850 rs1165661434 |
192 | M>V | No |
ClinGen gnomAD |
|
|
CA408409863 rs1450043873 |
193 | S>F | No |
ClinGen TOPMed |
|
|
CA9788538 rs751131191 |
198 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9788539 rs751131191 |
198 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749660430 CA9788541 |
201 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs149737181 CA9788543 |
202 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408409923 rs1352947503 |
203 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 207 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA313540874 rs1017498634 |
209 | K>E | No |
ClinGen Ensembl |
|
|
rs1290132333 CA408409979 |
210 | E>G | No |
ClinGen gnomAD |
|
|
CA408409983 rs1568584047 |
211 | V>I | No |
ClinGen Ensembl |
|
|
rs772103048 CA9788546 |
215 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs541736431 CA9788547 |
217 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473783541 CA408410063 |
223 | S>G | No |
ClinGen gnomAD |
|
|
CA9788549 rs771167838 |
224 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs776781782 CA9788550 |
225 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs759335586 CA408410080 |
225 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408410096 rs1278699602 |
228 | G>A | No |
ClinGen TOPMed |
|
|
rs765135154 CA408410112 |
230 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA408410118 rs1600531014 |
231 | V>G | No |
ClinGen Ensembl |
|
|
CA408410143 rs1434494681 |
235 | I>F | No |
ClinGen gnomAD |
|
|
rs139046142 CA9788553 |
236 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 236 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788554 rs763013623 |
238 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA408410169 rs1449579199 |
239 | K>E | No |
ClinGen gnomAD |
|
|
CA9788556 rs763976929 |
240 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA408410181 rs1568584212 |
240 | Y>C | No |
ClinGen Ensembl |
|
|
COSM1410787 CA9788557 rs756784368 |
241 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755289087 CA9788560 |
242 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA408410208 rs1233305714 |
245 | R>* | No |
ClinGen gnomAD |
|
|
rs749135517 CA313541003 |
245 | R>Q | No |
ClinGen Ensembl |
|
|
CA408410230 rs1600531160 |
248 | Q>P | No |
ClinGen Ensembl |
|
|
CA9788562 rs748554930 |
249 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568584307 CA408410262 |
253 | G>S | No |
ClinGen Ensembl |
|
|
rs772614434 CA9788563 |
254 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs772614434 CA408410269 |
254 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1484953697 CA408410281 |
256 | G>R | No |
ClinGen gnomAD |
|
|
CA9788564 rs778205664 |
257 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770916261 CA9788566 |
259 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788567 rs776851115 |
260 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs144069529 CA9788568 |
260 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1615403 CA9788569 rs769670381 |
261 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs146451243 CA9788571 |
262 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA313541062 rs889688504 |
262 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764079745 CA9788572 |
264 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1365544210 CA408410346 |
265 | S>R | No |
ClinGen gnomAD |
|
|
rs774160968 CA9788573 |
266 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408410352 rs774160968 |
266 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538920224 CA9788574 |
267 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA313541125 rs943939469 |
268 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9788575 rs373292988 |
268 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200932803 CA408410365 |
269 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs200932803 CA9788576 |
269 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9788577 rs755734532 |
270 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs766072802 CA9788578 |
271 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766072802 CA408410379 |
271 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408410380 rs1490971511 |
272 | E>K | No |
ClinGen Ensembl |
|
|
rs1248877544 CA408410394 |
273 | M>I | No |
ClinGen gnomAD |
|
|
rs968398777 CA313541206 |
273 | M>R | No |
ClinGen Ensembl |
|
|
rs200042678 CA9788579 |
274 | E>* | No |
ClinGen 1000Genomes ExAC |
|
|
CA9788580 rs201784143 |
274 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9788583 rs757313416 |
275 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9788582 VAR_059890 rs6048760 |
275 | Q>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
VAR_024212 rs6048760 CA9788581 |
275 | Q>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
VAR_059891 rs6048760 CA313541276 |
275 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1478578293 CA408410415 |
277 | S>F | No |
ClinGen gnomAD |
|
|
CA313541297 rs926894565 |
279 | N>T | No |
ClinGen Ensembl |
|
|
rs1272663915 CA408410428 |
279 | N>Y | No |
ClinGen TOPMed |
|
|
CA408410443 rs1158428458 |
281 | G>C | No |
ClinGen gnomAD |
|
|
rs143775476 CA408410466 |
284 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9788586 rs143775476 |
284 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9788585 rs143775476 |
284 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455173067 CA408410469 |
285 | G>C | No |
ClinGen gnomAD |
|
|
CA408410502 rs1444928157 |
290 | E>K | No |
ClinGen gnomAD |
|
|
rs1388872003 CA408410513 |
291 | L>S | No |
ClinGen gnomAD |
|
|
rs1165085278 CA408410520 |
292 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 293 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788587 rs1555786624 |
294 | K>R | No |
ClinGen Ensembl |
|
|
rs151080581 CA9788589 |
296 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408410553 rs1414276228 |
297 | P>L | No |
ClinGen TOPMed |
|
|
rs141101185 CA9788590 |
297 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408410566 rs1410596225 |
299 | E>G | No |
ClinGen TOPMed |
|
|
CA9788603 rs761685125 |
302 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9788604 rs767528210 |
303 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA408410606 rs1568584894 |
304 | E>D | No |
ClinGen Ensembl |
|
|
CA9788606 rs772684521 |
305 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788607 rs529069905 |
306 | E>D | No |
ClinGen ExAC |
|
|
CA408410630 rs1232709119 |
308 | E>K | No |
ClinGen TOPMed |
|
|
CA9788610 rs753496862 |
310 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1473878867 CA408410662 |
312 | K>T | No |
ClinGen gnomAD |
|
|
rs1183681994 CA408410672 |
313 | K>R | No |
ClinGen gnomAD |
|
|
CA9788613 rs764392081 |
314 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408410685 rs1161038157 |
315 | S>N | No |
ClinGen gnomAD |
|
|
CA9788615 rs757676888 |
315 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1405737413 CA408410689 |
316 | N>H | No |
ClinGen gnomAD |
|
|
CA9788616 rs781777194 |
316 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs6114068 VAR_052736 CA313541538 |
318 | K>N | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA313541540 rs6114069 |
320 | S>I | No |
ClinGen Ensembl |
|
|
rs756328332 CA9788618 |
323 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9788619 rs780365039 |
324 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs749494276 CA9788620 |
324 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs768456597 CA9788622 |
325 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768456597 CA9788621 |
325 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9788625 rs773196693 |
326 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1257451353 CA408410795 |
331 | S>G | No |
ClinGen gnomAD |
|
|
rs1257451353 CA408410794 |
331 | S>R | No |
ClinGen gnomAD |
|
|
CA408410806 rs1436631891 |
332 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408410825 rs1600532151 |
335 | H>Y | No |
ClinGen Ensembl |
|
|
rs1568585254 CA408410832 |
336 | S>G | No |
ClinGen Ensembl |
|
|
rs1184865172 CA408410836 |
336 | S>I | No |
ClinGen gnomAD |
|
|
rs1600532186 CA408410850 |
338 | H>P | No |
ClinGen Ensembl |
|
|
CA408410857 rs1600532199 |
339 | R>C | No |
ClinGen Ensembl |
|
|
rs200122736 CA9788629 |
339 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA313541683 rs200122736 |
339 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 340 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408410871 rs1325158644 |
341 | G>A | No |
ClinGen TOPMed |
|
|
rs1244208347 CA408410873 |
342 | V>M | No |
ClinGen gnomAD |
|
|
rs920660390 CA313541705 |
343 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs202105155 CA313541744 |
345 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA408410902 rs1308497037 |
346 | V>G | No |
ClinGen gnomAD |
|
|
CA9788631 rs751849178 |
347 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs751849178 CA313541760 |
347 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs762297126 CA9788632 |
349 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs567889856 CA313541796 |
352 | T>I | No |
ClinGen Ensembl |
|
|
CA408410952 rs1344692441 |
354 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs142988512 CA9788635 |
354 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408410958 rs1229684964 |
355 | Q>R | No |
ClinGen gnomAD |
|
|
rs147071692 CA9788638 |
360 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779249726 CA9788639 |
360 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs747886588 CA9788640 |
362 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA9788641 rs370593367 |
366 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408411048 rs1394368889 |
368 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408411050 rs1394368889 |
368 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408411049 rs1394368889 |
368 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs770392112 CA9788644 |
369 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408411060 rs1402924473 |
370 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 370 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318772319 CA408411068 |
371 | H>R | No |
ClinGen gnomAD |
|
|
rs1381739374 CA408411066 |
371 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs371847100 CA9788645 |
372 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408411094 rs368292290 |
374 | E>D | No |
ClinGen ESP gnomAD |
|
|
rs968445902 CA313541935 |
375 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs968445902 CA408411099 |
375 | R>L | No |
ClinGen gnomAD |
|
|
rs1303195465 CA408411095 |
375 | R>S | No |
ClinGen gnomAD |
|
|
rs1420998564 CA408411103 |
376 | H>R | No |
ClinGen gnomAD |
|
|
rs1257101849 CA408411118 |
378 | P>S | No |
ClinGen gnomAD |
|
|
rs1342867145 CA408411125 |
379 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 385 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1042893092 CA313541962 |
385 | K>* | No |
ClinGen TOPMed |
|
|
rs904256185 CA313541963 |
385 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 385 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762202436 CA9788649 |
388 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs138201288 CA9788650 |
388 | R>H | No |
ClinGen ESP ExAC |
|
|
CA408411190 rs762202436 |
388 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA408411194 rs979771220 |
389 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA313541991 rs979771220 |
389 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408411197 rs1250477020 |
389 | K>R | No |
ClinGen TOPMed |
|
|
rs767039392 CA9788653 |
393 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408411231 rs1378193852 |
394 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1157090493 CA408411256 |
398 | Q>* | No |
ClinGen gnomAD |
|
|
rs144056913 CA9788655 |
398 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408411261 rs1334992070 |
399 | V>M | No |
ClinGen gnomAD |
|
|
CA408411291 rs1279388629 |
403 | G>C | No |
ClinGen TOPMed |
|
|
CA408411292 rs1388899170 |
403 | G>D | No |
ClinGen gnomAD |
|
|
rs1335755476 CA408411295 |
404 | G>S | No |
ClinGen gnomAD |
|
|
rs1231842722 CA408411312 |
406 | R>P | No |
ClinGen TOPMed |
|
|
rs1330629208 CA408411317 |
407 | H>P | No |
ClinGen gnomAD |
|
|
CA9788658 rs758144129 |
408 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 410 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788660 rs766705074 |
410 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1014372981 CA313542072 |
411 | Q>* | No |
ClinGen TOPMed |
|
|
CA408411340 rs1014372981 |
411 | Q>K | No |
ClinGen TOPMed |
|
|
CA9788663 rs745365848 |
412 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408411354 rs1414227380 |
413 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1374444880 CA408411368 |
415 | G>S | No |
ClinGen TOPMed |
|
|
rs769351772 CA9788664 |
416 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408411398 rs1171318923 |
419 | K>N | No |
ClinGen TOPMed |
|
|
rs1348412862 CA408411406 |
421 | A>T | No |
ClinGen gnomAD |
|
|
rs373882555 CA408411413 |
422 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9788667 rs768462220 |
424 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs148654502 CA313542145 |
425 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408411428 rs1228406444 |
425 | H>Y | No |
ClinGen gnomAD |
|
|
CA313542199 rs909308632 |
426 | E>G | No |
ClinGen Ensembl |
|
|
CA9788671 rs377070623 |
426 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408411446 rs1311569117 |
428 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA408411477 rs112578924 |
432 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408411482 rs1208924556 |
433 | R>P | No |
ClinGen TOPMed |
|
|
CA408411481 rs1208924556 |
433 | R>Q | No |
ClinGen TOPMed |
|
|
CA408411496 rs765385826 |
435 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313542221 rs200357258 |
435 | Y>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9788674 rs146272692 |
436 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA313542258 rs926207548 |
438 | T>I | No |
ClinGen TOPMed |
|
|
CA408411513 rs926207548 |
438 | T>N | No |
ClinGen TOPMed |
|
|
rs1472950357 CA408411517 |
439 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 441 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425827038 CA408411538 |
442 | A>S | No |
ClinGen gnomAD |
|
|
CA9788676 rs764351749 |
447 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9788679 rs780925612 |
449 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs891711571 CA313542307 |
449 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs755539546 CA9788681 |
452 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778646176 CA9788704 |
457 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747821527 CA9788705 |
458 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs771163531 CA9788706 |
462 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781593849 CA9788707 |
463 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746270004 CA9788708 |
465 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774863335 CA9788710 |
469 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313543612 rs375743607 |
472 | F>C | No |
ClinGen ESP |
|
|
rs1013621415 CA313543616 |
476 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1282908302 CA408411804 |
479 | I>T | No |
ClinGen TOPMed |
|
|
CA313543618 rs1024225613 |
480 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1269023157 CA408411834 |
483 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
rs768736313 CA9788712 |
484 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9788713 rs774508504 |
485 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 487 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788735 rs769190160 |
487 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408412724 rs1399430069 |
492 | M>I | No |
ClinGen gnomAD |
|
|
CA9788736 rs774392394 |
493 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408412789 rs1284519320 |
495 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1600539022 CA408412796 |
496 | C>R | No |
ClinGen Ensembl |
|
|
CA9788737 rs761854653 |
497 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9788738 rs772333064 |
498 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415615782 CA408412930 |
503 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 507 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA313545443 rs1006174430 |
509 | H>Y | No |
ClinGen TOPMed |
|
|
rs202112786 CA408413068 |
510 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9788740 rs202112786 |
510 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408413073 rs1329675691 |
510 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408413082 rs1326332187 |
511 | R>G | No |
ClinGen gnomAD |
|
|
rs766295226 CA9788742 |
513 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9788744 rs759517965 |
515 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1228199676 CA408413167 |
516 | S>Y | No |
ClinGen gnomAD |
|
|
rs765319099 CA9788745 |
521 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA313545508 rs765319099 |
521 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408413283 rs1424133776 |
523 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 525 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408413331 rs1345001862 |
526 | R>T | No |
ClinGen gnomAD |
|
|
rs752240739 COSM3735208 CA9788746 |
531 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769234330 CA408413399 |
531 | R>W | No |
ClinGen gnomAD |
|
|
CA408413405 rs1441343424 |
532 | N>H | No |
ClinGen gnomAD |
|
|
rs761696331 CA313545560 |
534 | L>R | No |
ClinGen Ensembl |
|
|
CA408413428 rs1458763070 |
535 | Y>C | No |
ClinGen TOPMed |
|
|
rs1238903874 CA408413452 |
538 | I>M | No |
ClinGen gnomAD |
|
|
rs777419522 CA9788748 |
538 | I>V | No |
ClinGen ExAC |
|
|
CA9788749 rs751186559 |
540 | V>I | No |
ClinGen ExAC |
|
|
CA313546240 COSM1326847 rs1041287600 |
545 | R>H | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA408413648 rs1383184461 |
547 | Y>S | No |
ClinGen gnomAD |
|
|
CA408413677 rs1489769997 |
548 | C>F | No |
ClinGen TOPMed |
|
|
CA408413675 rs1489769997 |
548 | C>S | No |
ClinGen TOPMed |
|
|
rs762468879 CA9788771 |
553 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs902374939 CA313546244 |
553 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408413796 rs1207637737 |
555 | Q>E | No |
ClinGen gnomAD |
|
|
rs763535558 CA9788772 |
560 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9788774 rs140856017 |
563 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1454072446 CA408413994 |
564 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754196028 CA9788777 |
564 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754196028 CA9788776 |
564 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs779414798 CA9788778 |
565 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs139522387 CA9788779 |
566 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139522387 CA313546324 |
566 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9788780 rs144872945 COSM1641304 |
566 | R>H | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777679434 CA9788781 |
567 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs775728118 CA9788782 |
567 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408414102 rs1568589904 |
570 | T>K | No |
ClinGen Ensembl |
|
| TCGA novel | 570 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347245800 CA408414098 |
570 | T>S | No |
ClinGen gnomAD |
|
|
CA408414110 rs1293363482 |
571 | G>R | No |
ClinGen gnomAD |
|
|
CA408414129 rs1419296376 |
572 | E>Q | No |
ClinGen gnomAD |
|
|
rs1284484897 CA408414213 |
576 | M>K | No |
ClinGen gnomAD |
|
|
CA408414214 rs1284484897 |
576 | M>T | No |
ClinGen gnomAD |
|
|
rs777062919 CA9788785 |
576 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1344010932 CA408414224 |
577 | C>G | No |
ClinGen TOPMed |
|
|
CA313546339 rs200941812 |
578 | N>S | No |
ClinGen gnomAD |
|
|
CA9788787 rs191825303 |
579 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs980625959 CA313546388 |
581 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9788792 rs773719615 |
582 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408414317 rs1347453704 |
582 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1224556160 CA408414370 |
585 | T>A | No |
ClinGen gnomAD |
|
|
CA408414384 rs1482769865 COSM1410791 |
586 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs377683626 CA408414434 |
587 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180161587 CA408414416 |
587 | K>R | No |
ClinGen gnomAD |
|
|
CA408414456 rs1336736433 |
589 | T>A | No |
ClinGen gnomAD |
|
|
rs755283268 CA9788796 |
590 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs765549930 CA9788797 |
591 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408414514 rs1426958192 |
593 | H>Y | No |
ClinGen gnomAD |
|
|
CA313546473 rs550746497 |
594 | T>A | No |
ClinGen Ensembl |
|
|
CA9788799 rs149190577 |
594 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146915050 CA9788800 |
595 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408414658 rs530989063 |
597 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370373693 CA9788823 |
597 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9788825 rs147952306 |
598 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 599 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373849617 CA9788826 |
600 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141576121 CA313546811 |
601 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA313546822 rs905882699 |
602 | P>L | No |
ClinGen TOPMed |
|
|
rs923863875 CA313546829 |
603 | W>G | No |
ClinGen gnomAD |
|
|
rs923863875 CA313546823 |
603 | W>R | No |
ClinGen gnomAD |
|
|
CA9788827 rs780388600 |
604 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9788828 rs748967934 |
605 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA313546856 rs1002080294 |
605 | S>P | No |
ClinGen TOPMed |
|
|
CA9788829 rs768509671 |
610 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262961263 CA408414906 |
610 | V>I | No |
ClinGen TOPMed |
|
|
CA9788830 rs778773081 |
612 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9788831 rs567808876 |
613 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1267807532 CA408414982 |
614 | P>S | No |
ClinGen gnomAD |
|
|
rs1218432554 CA408415045 |
617 | D>N | No |
ClinGen gnomAD |
|
|
CA9788835 rs200001696 CA9788834 |
619 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA313546923 rs776352775 |
620 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754607214 CA313546914 |
620 | H>R | No |
ClinGen Ensembl |
|
|
rs1294693356 CA408415163 |
622 | T>A | No |
ClinGen TOPMed |
|
|
rs1044845315 CA313546934 |
623 | E>K | No |
ClinGen Ensembl |
|
|
CA408415224 rs1481138020 |
625 | P>H | No |
ClinGen gnomAD |
|
|
rs774959590 CA9788839 COSM244857 |
626 | D>N | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767325112 CA9788841 COSM419026 |
627 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM3840587 rs768188580 CA9788843 |
628 | E>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA408415331 rs1435622047 |
630 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1476561457 CA408415381 |
632 | S>C | No |
ClinGen TOPMed |
|
|
CA408415374 rs1347455820 |
632 | S>T | No |
ClinGen gnomAD |
|
|
CA313546966 rs1035947356 |
633 | K>R | No |
ClinGen Ensembl |
|
|
rs750525985 CA9788845 |
635 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408415448 rs1245025366 |
637 | K>E | No |
ClinGen TOPMed |
|
|
rs1348871012 CA408415451 |
637 | K>T | No |
ClinGen gnomAD |
|
|
CA9788847 rs766454027 |
638 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754112665 CA9788848 |
639 | L>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1025208 rs1397783944 CA408415491 |
640 | S>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1451399576 CA408415515 |
642 | A>T | No |
ClinGen gnomAD |
|
|
rs754685811 CA9788849 |
643 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 644 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA313547001 rs888642541 |
645 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1490695213 CA408415569 |
646 | H>Y | No |
ClinGen gnomAD |
|
|
rs758315729 CA9788852 |
647 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs370627418 CA9788850 |
647 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9788851 rs747984225 |
647 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1007465968 CA313547013 |
648 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 650 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408415629 rs1408358949 |
650 | L>V | No |
ClinGen gnomAD |
|
|
CA408415686 rs1161593345 |
654 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA313547024 rs1018396179 |
655 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA313547021 rs1018396179 |
655 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs375086740 CA313547030 |
658 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs745567748 CA9788857 |
659 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs192458055 CA313547035 |
660 | M>V | No |
ClinGen 1000Genomes |
|
|
rs1315164863 CA408415782 |
661 | Q>E | No |
ClinGen TOPMed |
|
|
rs1315164863 CA408415780 |
661 | Q>K | No |
ClinGen TOPMed |
|
|
rs1244317455 CA408415797 |
662 | E>K | No |
ClinGen gnomAD |
|
|
rs1393611236 CA408415862 |
666 | A>T | No |
ClinGen gnomAD |
|
|
CA9788858 rs6048766 VAR_052737 |
667 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs774836910 CA9788859 |
668 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA9788861 rs755748105 |
669 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9788862 rs755748105 |
669 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA408415912 rs1183460372 |
669 | A>V | No |
ClinGen gnomAD |
|
|
rs760622572 CA408415925 |
670 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA9788863 rs760622572 |
670 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA313547059 rs150207683 |
672 | A>T | No |
ClinGen ESP |
|
|
CA9788864 rs766510422 |
674 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA408415999 rs1386884555 |
675 | S>P | No |
ClinGen gnomAD |
|
|
rs765498177 CA9788867 |
676 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1411787509 CA408416030 |
677 | V>A | No |
ClinGen gnomAD |
|
|
CA9788868 rs752482204 |
677 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA313547094 rs989426296 COSM329389 |
678 | S>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA408416040 rs989426296 |
678 | S>Y | No |
ClinGen gnomAD |
|
|
CA408416053 rs1376626589 |
679 | Q>P | No |
ClinGen gnomAD |
|
|
CA9788869 RCV000889290 rs138617042 |
681 | T>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA408416089 rs1600542854 |
681 | T>P | No |
ClinGen Ensembl |
|
|
CA9788870 rs777631869 |
682 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1336876639 CA408416152 |
685 | T>I | No |
ClinGen gnomAD |
|
|
CA408416159 rs1184286348 |
686 | T>I | No |
ClinGen TOPMed |
|
|
CA408416170 rs1197080425 |
687 | I>T | No |
ClinGen gnomAD |
|
|
rs746993249 CA9788873 |
688 | S>R | No |
ClinGen ExAC |
|
|
CA408416239 rs1181407253 |
692 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9788875 rs780721876 |
694 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9788876 rs780721876 |
694 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9788878 rs200589846 |
696 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748463791 CA9788879 |
697 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408416326 rs1468393126 |
698 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1468393126 CA408416327 |
698 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9788880 rs200302139 |
699 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA313547135 rs200302139 |
699 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9788881 rs773551675 |
700 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA313547139 rs552713052 |
700 | M>L | No |
ClinGen 1000Genomes |
|
|
rs1600543099 CA408416366 |
701 | P>S | No |
ClinGen Ensembl |
|
|
rs573434420 CA9788883 |
703 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759676533 CA408416406 |
703 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9788884 rs573434420 |
703 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1442451980 CA408416395 |
703 | Q>P | No |
ClinGen TOPMed |
|
|
CA408416413 rs1334753225 |
704 | L>F | No |
ClinGen TOPMed |
|
|
CA9788888 rs202068860 |
706 | S>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA313547177 rs200034324 |
706 | S>P | No |
ClinGen 1000Genomes |
|
|
rs762691207 CA9788889 |
708 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9788890 rs369435640 |
709 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236207316 CA408416495 CA408416492 |
710 | M>I | No |
ClinGen gnomAD |
|
|
rs1264683943 CA408416490 |
710 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9788891 rs751351947 |
710 | M>V | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9H116
[MIM: 617662]: Joint laxity, short stature, and myopia (JLSM)
An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment. {ECO:0000269|PubMed:28475863}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disease characterized by generalized joint laxity, joint dislocation, pectus carinatum, short stature, and severe myopia with retinal detachment. {ECO:0000269|PubMed:28475863}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the 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. |
| metal ion binding | Binding to a metal ion. |
| 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. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| branching involved in ureteric bud morphogenesis | The process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules. |
| 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 transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
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 |
| 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 |
| 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 |
| Q05516 | ZBTB16 | Zinc finger and BTB domain-containing protein 16 | Homo sapiens (Human) | PR |
| Q8N0Y2 | ZNF444 | Zinc finger protein 444 | Homo sapiens (Human) | PR |
| Q6P9G9 | ZNF449 | Zinc finger protein 449 | Homo sapiens (Human) | PR |
| Q5VTD9 | GFI1B | Zinc finger protein Gfi-1b | 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 |
| 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 |
| Q86YH2 | ZNF280B | Zinc finger protein 280B | Homo sapiens (Human) | PR |
| O95625 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens (Human) | PR |
| Q8IW36 | ZNF695 | Zinc finger protein 695 | Homo sapiens (Human) | PR |
| Q96N38 | ZNF714 | Zinc finger protein 714 | Homo sapiens (Human) | PR |
| Q8N859 | ZNF713 | Zinc finger protein 713 | Homo sapiens (Human) | PR |
| P28698 | MZF1 | Myeloid zinc finger 1 | 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 |
| 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 |
| D3ZUU2 | Gzf1 | GDNF-inducible zinc finger protein 1 | 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 |
| MESGAVLLES | KSSPFNLLHE | MHELRLLGHL | CDVTVSVEYQ | GVRKDFMAHK | AVLAATSKFF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KEVFLNEKSV | DGTRTNVYLN | EVQVADFASF | LEFVYTAKVQ | VEEDRVQRML | EVAEKLKCLD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSETCFQLKK | QMLESVLLEL | QNFSESQEVE | VSSGSQVSAA | PAPRASVATD | GPHPSGLTDS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LDYPGERASN | GMSSDLPPKK | SKDKLDKKKE | VVKPPYPKIR | RASGRLAGRK | VFVEIPKKKY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TRRLREQQKT | AEGDVGDYRC | PQDQSPDRVG | TEMEQVSKNE | GCQAGAELEE | LSKKAGPEEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EEEEEEDEEG | EKKKSNFKCS | ICEKAFLYEK | SFLKHSKHRH | GVATEVVYRC | DTCGQTFANR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| CNLKSHQRHV | HSSERHFPCE | LCGKKFKRKK | DVKRHVLQVH | EGGGERHRCG | QCGKGLSSKT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ALRLHERTHT | GDRPYGCTEC | GARFSQPSAL | KTHMRIHTGE | KPFVCDECGA | RFTQNHMLIY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HKRCHTGERP | FMCETCGKSF | ASKEYLKHHN | RIHTGSKPFK | CEVCFRTFAQ | RNSLYQHIKV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HTGERPYCCD | QCGKQFTQLN | ALQRHRRIHT | GERPFMCNAC | GRTFTDKSTL | RRHTSIHDKN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TPWKSFLVIV | DGSPKNDDGH | KTEQPDEEYV | SSKLSDKLLS | FAENGHFHNL | AAVQDTVPTM |
| 670 | 680 | 690 | 700 | 710 | |
| QENSSADTAC | KADDSVVSQD | TLLATTISEL | SELTPQTDSM | PTQLHSLSNM | E |