Q7Z398
PR
Gene name |
ZNF550 |
Protein name |
Zinc finger protein 550 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:162972 |
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 Q7Z398
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z398-F1 | Predicted | AlphaFoldDB |
414 variants for Q7Z398
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA407734711 rs1236098268 |
2 | A>T | No |
ClinGen gnomAD |
|
|
rs772510785 CA9701781 |
2 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA407734681 rs1252121671 |
4 | T>A | No |
ClinGen gnomAD |
|
|
CA407734619 rs1319994865 |
7 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 7 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9701780 rs748679199 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407734568 rs1175990452 |
9 | Q>H | No |
ClinGen TOPMed |
|
|
CA310452581 rs1048521662 |
10 | M>I | No |
ClinGen Ensembl |
|
|
CA407733250 rs1200154811 |
11 | L>F | No |
ClinGen gnomAD |
|
|
CA407733222 rs1275677630 |
12 | V>A | No |
ClinGen TOPMed |
|
|
rs896840272 CA310452575 |
15 | K>Q | No |
ClinGen Ensembl |
|
|
CA407733101 rs1259807790 |
16 | D>V | No |
ClinGen gnomAD |
|
|
CA9701761 rs139899284 |
17 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78622781 CA310452571 |
19 | V>G | No |
ClinGen Ensembl |
|
|
rs769272206 CA9701760 |
20 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9701758 rs780476522 |
23 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs145863744 CA9701759 |
23 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9701754 rs377138309 |
25 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM1526701 CA9701756 rs61734156 |
25 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9701752 rs751174782 |
26 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA407732882 rs1568601439 |
27 | R>T | No |
ClinGen Ensembl |
|
|
rs139995875 CA9701750 |
30 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs529332157 CA9701749 |
30 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407732827 rs139995875 |
30 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407732813 rs1432089652 |
31 | L>V | No |
ClinGen gnomAD |
|
|
CA9701748 rs150654848 |
32 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407732777 rs1321043116 |
33 | Q>* | No |
ClinGen TOPMed |
|
|
CA407732762 rs1177398388 |
34 | R>W | No |
ClinGen gnomAD |
|
|
rs773393441 CA9701746 |
36 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701744 rs139847883 |
38 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407732703 rs774494400 |
38 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701743 rs774494400 |
38 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407732667 rs1337963484 COSM3363045 COSM3363044 |
40 | V>M | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1197904019 CA407732545 |
45 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1555795273 CA9701738 |
48 | L>P | No |
ClinGen Ensembl |
|
|
CA9701736 rs746280850 |
49 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs770250608 CA9701737 |
49 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1482314916 CA407731601 |
53 | H>Y | No |
ClinGen TOPMed |
|
|
CA407731585 rs76268300 |
54 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9701720 rs76268300 |
54 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199862285 CA9701721 |
54 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407731580 rs1331129537 |
55 | V>I | No |
ClinGen gnomAD |
|
|
rs770483808 CA9701719 |
58 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1009043033 CA310451234 |
60 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1427067381 CA407731516 |
60 | L>V | No |
ClinGen gnomAD |
|
|
CA407731501 rs1294648897 |
61 | V>I | No |
ClinGen gnomAD |
|
|
rs746696490 CA407731490 |
62 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746696490 CA9701715 |
62 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701714 rs777109195 |
63 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701713 rs771581106 |
64 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA407731466 rs1363722740 |
64 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA407731447 rs1364916000 |
65 | E>D | No |
ClinGen TOPMed |
|
|
CA407731456 rs975009307 |
65 | E>K | No |
ClinGen TOPMed |
|
|
CA310451221 rs975009307 |
65 | E>Q | No |
ClinGen TOPMed |
|
|
CA9701712 rs745807639 |
67 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745807639 CA407731428 |
67 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778816053 CA9701710 |
71 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754912315 CA9701709 |
72 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA407731352 rs1465184632 |
72 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA310451201 rs778958707 |
73 | V>L | No |
ClinGen Ensembl |
|
|
CA407731332 rs1403290561 |
74 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 75 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407731305 rs1248670121 |
76 | G>C | No |
ClinGen TOPMed |
|
|
CA9701707 rs779846697 |
77 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1471264560 CA407731263 |
79 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs558731267 CA9701705 |
79 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407731265 rs1471264560 |
79 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9701706 rs757376388 |
79 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406850549 CA407731257 |
80 | A>T | No |
ClinGen gnomAD |
|
|
CA407731251 rs1599895692 |
81 | T>P | No |
ClinGen Ensembl |
|
|
CA9701704 rs764269395 |
81 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9701685 rs750240983 |
86 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407729813 rs750240983 |
86 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701684 rs145980297 |
87 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407729787 rs1416666140 |
87 | A>V | No |
ClinGen TOPMed |
|
|
rs1031072515 CA310449491 |
88 | Q>* | No |
ClinGen TOPMed |
|
|
rs758556622 CA9701683 |
89 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758556622 CA310449488 |
89 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407729718 rs1161882423 |
91 | T>S | No |
ClinGen TOPMed |
|
|
rs1387557407 TCGA novel CA407729710 |
92 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs551689281 CA9701682 |
93 | E>A | No |
ClinGen 1000Genomes ExAC |
|
|
CA9701681 CA407729686 rs765434967 |
93 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599891236 CA407729696 |
93 | E>K | No |
ClinGen Ensembl |
|
|
rs1232519538 CA407729665 |
94 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760080376 CA310449478 |
95 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760080376 CA9701680 |
95 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754367151 CA9701679 |
96 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA407729640 rs1599891206 |
96 | T>P | No |
ClinGen Ensembl |
|
|
CA407729619 rs142329644 CA407729621 |
97 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407729631 rs1273869120 |
97 | Y>H | No |
ClinGen gnomAD |
|
|
rs766845897 CA9701678 |
97 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs369950321 CA9701676 |
98 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1317553484 CA407729614 |
98 | P>S | No |
ClinGen gnomAD |
|
|
rs1038234325 CA310449461 |
100 | V>A | No |
ClinGen Ensembl |
|
|
rs1296090920 CA407729588 |
100 | V>I | No |
ClinGen gnomAD |
|
|
CA9701673 rs773810411 |
102 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1351107450 CA407729540 |
102 | S>P | No |
ClinGen TOPMed |
|
|
CA407729526 rs1162408728 |
103 | E>Q | No |
ClinGen gnomAD |
|
|
rs748842717 CA9701671 |
104 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768118600 CA9701672 |
104 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310449448 rs1055648752 |
105 | A>D | No |
ClinGen TOPMed |
|
|
rs775390000 CA9701670 |
105 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA407729484 rs1210922454 |
106 | F>L | No |
ClinGen TOPMed |
|
|
rs1046061667 CA310449443 |
107 | L>P | No |
ClinGen Ensembl |
|
|
rs149514492 CA9701668 |
108 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375879619 CA9701669 |
108 | R>W | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780866191 CA9701667 |
109 | G>* | No |
ClinGen ExAC gnomAD |
|
| rs1375174512 | 109 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9701666 rs376333092 |
109 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570277154 CA9701664 |
110 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701665 rs748416712 |
110 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701663 rs755087909 |
111 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs922303467 CA310449423 |
112 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA407729376 rs922303467 |
112 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1247436403 CA407729370 |
113 | L>V | No |
ClinGen gnomAD |
|
|
rs766841218 CA9701661 |
114 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs942981906 CA310449419 |
114 | E>V | No |
ClinGen TOPMed |
|
|
rs754496017 CA310449417 |
115 | S>Y | No |
ClinGen Ensembl |
|
|
rs1185573273 CA407729288 |
118 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9701658 rs767802802 |
121 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9701659 rs767802802 |
121 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs911433661 CA310449402 |
123 | L>F | No |
ClinGen TOPMed |
|
|
CA407729177 rs1303672322 |
124 | G>R | No |
ClinGen gnomAD |
|
|
CA407729128 rs1361820378 |
126 | A>G | No |
ClinGen gnomAD |
|
|
CA407729108 rs1249838443 |
127 | R>S | No |
ClinGen gnomAD |
|
|
rs773967546 CA9701656 |
128 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs914119762 CA310449396 |
128 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528947753 CA9701655 |
132 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310449391 rs936864382 |
135 | M>I | No |
ClinGen TOPMed |
|
|
rs1568597681 CA407728951 |
136 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 138 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs955352058 CA310449388 |
138 | G>S | No |
ClinGen Ensembl |
|
|
rs751278640 CA9701654 |
141 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3736207 COSM3736206 CA9701652 rs142200842 |
142 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA407728836 rs142200842 |
142 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9701649 rs776450386 |
144 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701647 rs75496843 |
144 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9701648 rs75496843 |
144 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407728783 rs1316711539 |
145 | D>E | No |
ClinGen gnomAD |
|
|
rs1221364916 CA407728708 |
150 | T>A | No |
ClinGen gnomAD |
|
|
CA9701646 rs779265518 |
150 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1381541263 CA407728683 |
151 | H>R | No |
ClinGen gnomAD |
|
|
CA310449360 rs1004008753 |
151 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA407728661 rs1378818639 |
152 | L>F | No |
ClinGen TOPMed |
|
|
CA9701645 rs755320807 |
152 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA310449352 rs77313517 |
156 | S>C | No |
ClinGen Ensembl |
|
|
rs749320889 CA9701644 |
156 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs80016657 CA9701643 |
157 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1568597579 CA407728555 |
159 | G>D | No |
ClinGen Ensembl |
|
|
rs756602735 CA9701642 |
159 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9701641 rs750863160 |
161 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701640 rs768115121 |
161 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260262633 CA407728498 |
164 | T>I | No |
ClinGen gnomAD |
|
|
CA9701638 rs147073953 |
166 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 166 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407728463 rs1262960954 |
167 | G>C | No |
ClinGen gnomAD |
|
|
CA407728461 rs763666781 |
167 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701637 rs763666781 |
167 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399231928 CA407728423 |
169 | H>Q | No |
ClinGen gnomAD |
|
|
CA407728430 rs1263170462 |
169 | H>Y | No |
ClinGen gnomAD |
|
|
rs752205800 CA9701635 |
171 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424419711 CA407728323 |
173 | L>F | No |
ClinGen gnomAD |
|
|
CA310449302 rs764688200 |
175 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382768019 CA407728278 |
175 | E>G | No |
ClinGen gnomAD |
|
|
rs781390222 CA9701633 |
179 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541304911 CA9701632 |
181 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771051812 CA9701631 |
183 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA407728108 rs1461537530 |
183 | H>Y | No |
ClinGen gnomAD |
|
|
rs888316884 CA310449291 |
184 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9701629 rs773152173 |
186 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760544230 CA9701630 |
186 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310449289 rs945531887 |
187 | S>L | No |
ClinGen gnomAD |
|
|
rs750228294 CA9701627 |
188 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780363835 CA9701626 |
188 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs746014880 CA9701625 |
189 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746014880 CA407727946 |
189 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746014880 CA9701624 |
189 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701623 rs781545721 |
190 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1363335180 CA407727886 |
191 | G>R | No |
ClinGen gnomAD |
|
|
rs1179707139 CA407727864 |
192 | K>R | No |
ClinGen gnomAD |
|
|
CA9701620 rs78685508 |
194 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407727795 rs1373689270 |
196 | I>L | No |
ClinGen TOPMed |
|
|
CA310449249 rs550100013 |
196 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA407727784 rs1465363272 |
196 | I>T | No |
ClinGen TOPMed |
|
|
CA407727759 rs1391086559 |
197 | H>P | No |
ClinGen gnomAD |
|
|
CA9701616 rs758960070 |
200 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA9701615 rs151237111 CA310449241 |
201 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407727653 rs1385178253 |
202 | P>L | No |
ClinGen gnomAD |
|
|
CA9701614 rs766354535 |
203 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1383817149 CA407727503 |
207 | Q>H | No |
ClinGen TOPMed |
|
|
CA9701612 rs771957702 |
209 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs771957702 CA9701611 |
209 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1295749953 CA407727406 |
211 | G>D | No |
ClinGen TOPMed |
|
|
rs761712972 CA9701610 |
211 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs761712972 CA407727422 |
211 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA407727326 rs1222799247 |
214 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9701608 rs770119606 |
216 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA9701607 rs745867755 |
218 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149210671 CA9701605 |
219 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9701604 rs371722942 |
220 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407727228 COSM1002316 rs1238555052 |
220 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA407727201 rs1334226629 |
222 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1309167333 CA407727195 |
222 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1054002193 CA310449213 |
223 | R>M | No |
ClinGen TOPMed |
|
|
rs1477504013 CA407727165 |
224 | V>F | No |
ClinGen TOPMed |
|
|
CA9701603 rs778292998 |
226 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs200379665 CA9701601 |
227 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA310449206 rs200379665 |
227 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758740480 CA9701602 |
227 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407727094 rs1599890309 |
229 | K>E | No |
ClinGen Ensembl |
|
|
rs145416022 CA9701600 |
230 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753235641 CA9701598 |
231 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755721657 CA9701596 |
233 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1365188142 CA407727009 |
233 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA407726983 rs1399367407 |
234 | N>K | No |
ClinGen Ensembl |
|
|
CA9701595 rs200038572 |
234 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1266206657 CA407726980 |
235 | A>T | No |
ClinGen gnomAD |
|
|
rs767619857 CA9701594 |
235 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774199291 CA9701592 |
236 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774199291 CA407726958 |
236 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407726893 rs1404821057 |
240 | F>V | No |
ClinGen gnomAD |
|
|
rs201442480 CA9701591 |
241 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776654416 CA9701589 |
241 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407726870 rs776654416 |
241 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201442480 CA9701590 |
241 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407726832 rs1229306867 |
243 | S>T | No |
ClinGen gnomAD |
|
|
rs1014114103 CA310449169 |
245 | T>I | No |
ClinGen TOPMed |
|
|
rs747141721 CA9701587 |
245 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9701583 rs779351569 |
248 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs188961109 CA9701584 |
248 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1387666296 CA407726739 |
249 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9701582 rs754544609 |
249 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs199808090 CA310449154 |
250 | Y>* | No |
ClinGen TOPMed |
|
|
rs112259349 CA9701581 |
251 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407726681 rs1488022327 |
253 | H>P | No |
ClinGen TOPMed |
|
|
rs767495002 CA9701577 |
255 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA407726648 rs767495002 |
255 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA407726632 rs1241454735 |
256 | E>K | No |
ClinGen gnomAD |
|
|
CA9701574 rs751261973 |
257 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA407726560 rs762698168 CA407726563 |
259 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701573 rs763983666 |
259 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs763983666 CA407726576 |
259 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA407726545 rs1568597109 |
260 | K>N | No |
ClinGen Ensembl |
|
|
rs200765871 CA9701571 |
261 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270114145 CA407726521 |
262 | L>I | No |
ClinGen gnomAD |
|
|
CA407726509 rs1198617347 |
262 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773288567 CA9701568 |
263 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA407726433 rs1321679920 |
266 | K>N | No |
ClinGen gnomAD |
|
|
rs1417767031 CA407726437 |
266 | K>R | No |
ClinGen TOPMed |
|
|
CA9701566 rs748717885 |
267 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs772403789 CA9701567 |
267 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA407726419 rs748717885 |
267 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9701565 rs368720133 |
269 | K>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs914055857 CA310449107 |
270 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs139721283 CA9701564 |
270 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9701563 rs749724743 |
272 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701561 rs374742265 |
273 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA407726324 rs1599889943 |
273 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 274 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281694204 CA407726297 |
274 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1460986599 CA407726304 |
274 | L>V | No |
ClinGen gnomAD |
|
|
rs757105060 CA9701558 |
275 | M>L | No |
ClinGen ExAC |
|
|
rs1241524012 CA407726269 |
276 | Q>* | No |
ClinGen gnomAD |
|
|
rs1312823602 CA407726243 |
277 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1312823602 CA407726241 |
277 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA407726227 rs1353670871 |
278 | H>N | No |
ClinGen TOPMed |
|
|
CA9701556 rs369059914 |
279 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752559788 CA9701553 |
280 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9701555 rs370391615 |
280 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs183472177 CA9701550 |
281 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766525533 CA9701551 |
281 | H>Y | No |
ClinGen ExAC |
|
|
CA9701549 rs750456161 |
282 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407726113 rs1486005552 |
284 | E>K | No |
ClinGen TOPMed |
|
|
CA407726109 rs1209685491 |
284 | E>V | No |
ClinGen TOPMed |
|
|
CA407726077 rs767601529 |
286 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701547 rs767601529 |
286 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407726074 rs767601529 |
286 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301905043 CA407726079 |
286 | P>S | No |
ClinGen Ensembl |
|
|
CA407726071 rs1568596970 |
287 | Y>D | No |
ClinGen Ensembl |
|
|
rs761844530 CA9701546 |
288 | E>D | No |
ClinGen ExAC |
|
|
CA407725975 rs10410631 CA310449049 |
291 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA310449057 rs984048632 |
291 | Q>K | No |
ClinGen TOPMed |
|
|
CA9701543 rs534898048 |
291 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9701538 rs563579417 |
293 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9701537 rs776010564 |
293 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776010564 CA407725940 |
293 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751900658 CA9701536 |
295 | A>* | No |
ClinGen ExAC gnomAD |
|
|
rs909911452 CA310449040 |
295 | A>V | No |
ClinGen TOPMed |
|
|
CA407725900 rs769520622 |
296 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9701534 rs769520622 |
296 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA407725882 rs1483717203 |
297 | T>A | No |
ClinGen gnomAD |
|
|
rs780749850 CA9701531 |
299 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701532 rs144066628 |
299 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1006637953 CA310449028 |
300 | S>C | No |
ClinGen TOPMed |
|
|
rs746560146 CA9701528 |
303 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs532492261 CA9701526 |
304 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9701525 rs752435329 |
304 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701524 rs778705753 |
305 | H>L | No |
ClinGen ExAC |
|
|
rs377442837 CA9701523 |
306 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA407725714 rs1411119789 |
306 | N>T | No |
ClinGen gnomAD |
|
|
rs767686192 CA9701521 |
308 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA310448996 rs1000555832 |
309 | H>D | No |
ClinGen TOPMed |
|
|
CA407725660 rs139099223 |
309 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9701520 rs139099223 |
309 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751595570 CA9701519 |
312 | E>* | No |
ClinGen ExAC |
|
|
rs202241911 CA310448994 |
313 | K>E | No |
ClinGen 1000Genomes |
|
|
rs1599889640 CA407725552 |
316 | E>Q | No |
ClinGen Ensembl |
|
|
rs764604148 CA9701518 |
318 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1456236244 CA407725492 |
318 | K>N | No |
ClinGen TOPMed |
|
|
rs763575504 CA9701517 |
319 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs770254636 CA9701515 |
323 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9701516 rs775955668 |
323 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA310448967 rs936927651 |
325 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9701512 rs560070583 |
326 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599889601 CA407725352 |
326 | N>Y | No |
ClinGen Ensembl |
|
|
CA9701511 rs770556618 |
328 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs17857023 CA310448950 |
329 | H>R | No |
ClinGen Ensembl |
|
|
rs370529019 CA9701510 |
329 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 332 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407725228 rs1281678966 |
333 | H>Y | No |
ClinGen gnomAD |
|
|
rs1042631613 CA310448944 |
335 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1464352274 CA407725145 |
338 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA407725123 rs1293828652 |
340 | E>* | No |
ClinGen gnomAD |
|
|
rs1293828652 CA407725124 |
340 | E>Q | No |
ClinGen gnomAD |
|
|
CA9701505 rs754752444 |
341 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs781405675 CA9701503 |
342 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781405675 CA9701504 |
342 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701501 rs751609264 |
343 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs938045550 CA310448927 |
345 | C>W | No |
ClinGen TOPMed |
|
|
CA407725052 rs1219498717 |
346 | M>I | No |
ClinGen TOPMed |
|
|
CA9701499 rs150707350 |
346 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9701500 rs150707350 |
346 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1412747809 CA407725057 |
346 | M>V | No |
ClinGen gnomAD |
|
|
CA9701498 rs532893630 |
348 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9701496 rs141163690 |
350 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1240758433 CA407724976 |
351 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9701495 rs138019714 |
351 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA407724950 rs1329452868 |
353 | R>G | No |
ClinGen gnomAD |
|
|
CA310448914 rs868732627 |
353 | R>K | No |
ClinGen TOPMed |
|
|
CA407724943 rs1261900227 |
353 | R>S | No |
ClinGen gnomAD |
|
|
rs749837485 CA9701493 |
356 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749837485 CA407724910 |
356 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221156600 CA407724915 |
356 | S>P | No |
ClinGen gnomAD |
|
|
rs866650166 CA310448908 |
357 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs754593404 CA310448906 |
358 | L>F | No |
ClinGen Ensembl |
|
|
CA310448902 rs867721180 |
359 | I>M | No |
ClinGen Ensembl |
|
|
CA9701492 rs1548476 VAR_026294 |
359 | I>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 359 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771542995 CA9701491 |
360 | Q>* | No |
ClinGen ExAC |
|
|
rs747711957 CA9701490 |
360 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs774263656 CA9701489 |
362 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437491569 CA407724850 |
362 | Q>R | No |
ClinGen gnomAD |
|
|
CA9701487 rs377559464 |
363 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768582640 CA9701488 |
363 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407724833 rs1475969569 |
364 | I>S | No |
ClinGen TOPMed |
|
|
CA407724830 rs1464596041 |
365 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs757458547 CA9701485 |
366 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747167283 CA9701484 |
366 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701482 rs758541560 |
367 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322087607 CA407724783 |
369 | K>M | No |
ClinGen TOPMed |
|
|
CA310448887 rs1007058681 |
371 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1568596491 CA407724742 |
372 | E>D | No |
ClinGen Ensembl |
|
|
CA407724740 rs1220249403 |
373 | C>R | No |
ClinGen gnomAD |
|
|
CA9701479 rs765774236 |
375 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs755457362 CA9701478 |
375 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9701477 rs201235437 |
376 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407724706 rs1305721514 |
376 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 377 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268737354 CA407724681 |
378 | K>R | No |
ClinGen gnomAD |
|
|
CA9701475 rs754576099 |
382 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701476 rs766687703 |
382 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9701474 rs751092867 |
383 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9701473 rs144170900 |
384 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768531686 CA9701470 |
386 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407724591 rs1461869329 |
387 | I>F | No |
ClinGen gnomAD |
|
|
CA9701469 rs762829560 |
388 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs200419118 CA9701468 |
389 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1260365148 CA407724546 |
390 | S>F | No |
ClinGen TOPMed |
|
|
rs1215319535 CA407724553 |
390 | S>T | No |
ClinGen TOPMed |
|
|
CA9701462 rs778139114 |
394 | T>N | No |
ClinGen ExAC |
|
|
CA9701463 rs147432413 |
394 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1599889226 CA407724492 |
395 | G>E | No |
ClinGen Ensembl |
|
|
rs772428586 CA9701461 |
396 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779160874 CA9701459 |
397 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748181844 CA9701460 |
397 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA9701458 rs755474829 |
398 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA407724464 rs1205841011 |
398 | P>S | No |
ClinGen gnomAD |
|
|
rs780662580 CA9701456 |
399 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA407724453 rs1410738886 |
399 | Y>C | No |
ClinGen TOPMed |
|
|
rs750788469 CA9701454 |
402 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA9701452 rs761476303 |
403 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1310367724 CA407724401 |
404 | C>R | No |
ClinGen gnomAD |
|
|
CA407724370 rs1568596320 |
406 | K>N | No |
ClinGen Ensembl |
|
|
rs751029825 CA9701449 |
410 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365298821 CA407724327 |
410 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA407724311 rs1459073897 |
412 | S>P | No |
ClinGen gnomAD |
|
|
CA9701446 rs775278357 |
415 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1253395000 CA407724250 |
417 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 419 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs879081860 CA310448801 |
421 | H>P | No |
ClinGen Ensembl |
|
|
CA9701442 rs142851113 |
421 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA407724196 rs1356869205 |
422 | T>I | No |
ClinGen gnomAD |
|
|
rs1266246438 CA407724189 |
423 | T>R | No |
ClinGen gnomAD |
|
|
rs938097899 CA310448796 |
423 | T>W | No |
ClinGen TOPMed |
No associated diseases with Q7Z398
9 regional properties for Q7Z398
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Krueppel-associated box | 11 - 83 | IPR001909 |
| domain | Zinc finger C2H2-type | 203 - 230 | IPR013087-1 |
| domain | Zinc finger C2H2-type | 231 - 258 | IPR013087-2 |
| domain | Zinc finger C2H2-type | 259 - 286 | IPR013087-3 |
| domain | Zinc finger C2H2-type | 287 - 314 | IPR013087-4 |
| domain | Zinc finger C2H2-type | 315 - 342 | IPR013087-5 |
| domain | Zinc finger C2H2-type | 343 - 370 | IPR013087-6 |
| domain | Zinc finger C2H2-type | 371 - 398 | IPR013087-7 |
| domain | Zinc finger C2H2-type | 399 - 422 | IPR013087-8 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
4 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 transcription regulatory region sequence-specific DNA binding | Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 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 |
| Q05516 | ZBTB16 | Zinc finger and BTB domain-containing protein 16 | 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Q9Y2K1 | ZBTB1 | Zinc finger and BTB domain-containing protein 1 | 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 |
| Q9H5H4 | ZNF768 | Zinc finger protein 768 | Homo sapiens (Human) | PR |
| Q49AA0 | ZFP69 | Zinc finger protein 69 homolog | Homo sapiens (Human) | PR |
| Q8TD17 | ZNF398 | Zinc finger protein 398 | Homo sapiens (Human) | PR |
| Q96N20 | ZNF75A | Zinc finger protein 75A | 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 |
| MAETKDAAQM | LVTFKDVAVT | FTREEWRQLD | LAQRTLYREV | MLETCGLLVS | LGHRVPKPEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VHLLEHGQEL | WIVKRGLSHA | TCAGDRAQVH | TREPTTYPPV | LSERAFLRGS | LTLESSTSSD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SRLGRARDEE | GLLEMQKGKV | TPETDLHKET | HLGKVSLEGE | GLGTDDGLHS | RALQEWLSAD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VLHECDSQQP | GKDALIHAGT | NPYKCKQCGK | GFNRKWYLVR | HQRVHTGMKP | YECNACGKAF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SQSSTLIRHY | LIHTGEKPYK | CLECGKAFKR | RSYLMQHHPI | HTGEKPYECS | QCRKAFTHRS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TFIRHNRTHT | GEKPFECKEC | EKAFSNRAHL | IQHYIIHTGE | KPYDCMACGK | AFRCSSELIQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HQRIHTGEKP | YECTQCGKAF | HRSTYLIQHS | VIHTGEMPYK | CIECGKAFKR | RSHLLQHQRV |
| HT |