P40425
PR
Gene name |
PBX2 (G17) |
Protein name |
Pre-B-cell leukemia transcription factor 2 |
Names |
Homeobox protein PBX2, Protein G17 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5089 |
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 P40425
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P40425-F1 | Predicted | AlphaFoldDB |
307 variants for P40425
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs768384788 CA3738731 |
3 | E>G | No |
ExAC gnomAD ClinGen |
|
|
rs774117070 CA3738732 |
3 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1436210949 CA363531414 |
4 | R>W | No |
TOPMed ClinGen |
|
|
CA3738729 rs779638317 |
5 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs1582744469 CA363530379 |
6 | L>R | No |
Ensembl ClinGen |
|
|
rs561847403 CA363530377 CA3738726 |
7 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363530344 rs1362862221 |
9 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA3738722 rs758561457 |
11 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738723 rs758561457 |
11 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738720 rs765230458 |
12 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363530313 rs1281080611 |
12 | G>D | No |
TOPMed ClinGen |
|
|
rs765230458 CA3738721 |
12 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738719 rs756138557 |
13 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM1239711 rs750306318 CA3738718 |
14 | G>A | oesophagus [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA363530255 rs750306318 |
14 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363530261 rs1214343060 |
14 | G>S | No |
TOPMed ClinGen |
|
|
CA363530252 rs750306318 |
14 | G>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363530247 rs1265752134 |
15 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA3738717 rs767387011 |
15 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs767387011 CA363530245 |
15 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265752134 CA363530248 |
15 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA363530230 rs1260302740 |
16 | G>E | No |
TOPMed gnomAD ClinGen |
|
|
rs528299431 CA136923707 |
16 | G>R | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs774240386 CA3738715 |
17 | G>C | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 17 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774240386 COSM3697771 CA3738716 |
17 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA363530218 rs1214641305 |
17 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA363530198 rs1233540041 |
19 | G>E | No |
gnomAD ClinGen |
|
|
CA3738712 rs762688667 |
19 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1582744060 CA363530172 |
21 | V>G | No |
Ensembl ClinGen |
|
|
CA363530161 rs1329246047 |
22 | S>N | No |
gnomAD ClinGen |
|
|
CA363530153 rs1320124004 |
22 | S>R | No |
gnomAD ClinGen |
|
|
CA363530142 rs1399865978 |
23 | G>V | No |
gnomAD ClinGen |
|
|
CA363530132 rs1582744004 |
24 | E>G | No |
Ensembl ClinGen |
|
|
CA363530120 rs1382563455 |
25 | P>S | No |
gnomAD ClinGen |
|
|
CA363530090 rs1383811645 |
27 | G>V | No |
gnomAD ClinGen |
|
|
rs1436066231 CA363530070 |
29 | G>D | No |
gnomAD ClinGen |
|
|
CA3738711 rs775196874 |
30 | E>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1172435668 CA363530064 |
30 | E>K | No |
gnomAD ClinGen |
|
|
CA363530048 rs1376415274 |
31 | P>S | No |
gnomAD ClinGen |
|
|
CA3738710 rs769164458 |
32 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs1262782632 CA363530003 |
35 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3738708 rs200658771 |
36 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA3738707 rs771417397 |
37 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738706 rs747385116 |
39 | G>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363529950 rs1281179602 |
39 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
CA363529947 rs1281179602 |
39 | G>W | No |
TOPMed gnomAD ClinGen |
|
|
rs1271803723 CA363529935 |
40 | G>C | No |
TOPMed gnomAD ClinGen |
|
|
CA363529933 rs1227895220 |
40 | G>D | No |
gnomAD ClinGen |
|
|
rs1325585462 CA363529927 |
41 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
rs758689529 CA136923622 |
43 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3738704 rs758689529 |
43 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs778047719 CA3738705 |
43 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753917741 COSM596116 CA3738700 |
44 | V>F | prostate [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs1582743575 CA363529872 |
44 | V>G | No |
Ensembl ClinGen |
|
| rs747720400 | 44 | V>G | Variant assessed as Somatic; 4.796e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753917741 CA3738701 |
44 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
| rs747720400 | 44 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363529860 rs1462835785 |
45 | P>Q | No |
gnomAD ClinGen |
|
|
rs144084871 CA3738697 |
45 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363529856 rs1191917889 |
46 | G>R | No |
gnomAD ClinGen |
|
|
CA363529828 rs1411741587 |
48 | R>Q | No |
gnomAD ClinGen |
|
|
rs751464677 CA3738695 |
54 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751464677 CA363529746 |
54 | G>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363529713 rs1258476316 |
56 | I>S | No |
gnomAD ClinGen |
|
|
rs763964127 CA3738694 |
58 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774975302 CA3738692 |
60 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs764903113 CA3738691 |
61 | M>L | No |
ExAC gnomAD ClinGen |
|
|
rs1477425624 CA363529633 |
62 | T>A | No |
ClinGen gnomAD |
|
|
CA3738689 rs771349224 |
66 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758989013 CA3738690 |
66 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
CA3738687 rs747512157 |
67 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA363529541 rs1336967090 |
69 | D>A | No |
gnomAD ClinGen |
|
|
CA3738686 rs773626213 COSM351386 |
70 | E>K | lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 71 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400207484 CA363529467 |
73 | A>T | No |
gnomAD ClinGen |
|
|
CA363529441 rs1169065228 |
74 | K>E | No |
TOPMed gnomAD ClinGen |
|
|
rs373393947 CA3738672 |
77 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363529106 COSM1137508 rs1378437496 |
82 | R>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA136922846 rs1040664458 |
86 | A>V | No |
TOPMed ClinGen |
|
|
CA3738671 rs766852143 |
87 | L>I | No |
ExAC gnomAD ClinGen |
|
|
rs1336083178 CA363529013 |
88 | F>L | No |
gnomAD ClinGen |
|
|
rs910748715 CA136922833 |
89 | S>R | No |
TOPMed ClinGen |
|
|
rs201560573 CA3738669 |
90 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 93 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136922818 rs968228746 |
97 | K>E | No |
TOPMed ClinGen |
|
|
rs1298962951 CA363528831 |
97 | K>N | No |
gnomAD ClinGen |
|
|
rs901853818 CA136922555 |
100 | L>F | No |
TOPMed ClinGen |
|
|
rs763122082 CA363528686 |
103 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363528680 rs1217864573 |
103 | R>P | No |
gnomAD ClinGen |
|
|
CA363528682 rs1217864573 |
103 | R>Q | No |
ClinGen gnomAD |
|
|
CA3738643 rs763122082 |
103 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1279208469 CA363528654 |
105 | S>P | No |
gnomAD ClinGen |
|
|
CA363528645 rs1399672846 |
106 | Q>E | No |
TOPMed gnomAD ClinGen |
|
|
CA136922516 rs547064168 |
110 | P>L | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs1230730178 CA363528495 |
114 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745957488 CA3738640 |
117 | R>C | No |
ExAC gnomAD ClinGen |
|
|
rs1357191007 CA363528433 |
118 | L>S | No |
TOPMed ClinGen |
|
|
rs1358514968 CA363528440 |
118 | L>V | No |
gnomAD ClinGen |
|
|
CA3738639 rs776784396 |
120 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs889275662 CA363528378 |
121 | M>R | No |
TOPMed gnomAD ClinGen |
|
|
rs889275662 CA136922469 |
121 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
CA3738638 rs772200818 |
121 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs778624343 CA3738636 |
124 | A>E | No |
ExAC gnomAD ClinGen |
|
|
rs534855023 CA3738635 |
125 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1275609788 CA363528297 |
126 | G>D | No |
gnomAD ClinGen |
|
|
CA363528313 rs1188048603 |
126 | G>S | No |
gnomAD ClinGen |
|
|
rs570605836 CA3738633 |
129 | G>A | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA136922433 rs946921092 |
129 | G>R | No |
TOPMed ClinGen |
|
|
CA3738632 rs755709708 |
130 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs766997895 CA3738630 |
131 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA363528173 rs1218397980 |
133 | G>E | No |
gnomAD ClinGen |
|
|
rs1476427605 CA363528157 |
134 | G>D | No |
TOPMed ClinGen |
|
|
CA363528139 rs752070997 |
135 | G>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738628 rs752070997 |
135 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs764463805 CA3738627 |
136 | S>P | No |
ExAC gnomAD ClinGen |
|
|
CA3738625 rs763398057 |
141 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA363528014 rs1371285800 |
142 | A>V | No |
TOPMed ClinGen |
|
|
CA363528005 rs765558924 |
143 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3738623 rs765558924 |
143 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3738622 rs200483918 |
144 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363527972 rs1448400116 |
145 | A>V | No |
TOPMed ClinGen |
|
|
CA363527968 rs1561894019 |
146 | S>A | No |
ClinGen Ensembl |
|
|
rs1215997681 CA363527949 |
147 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs776911449 CA3738619 |
147 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA3738617 rs771022805 |
148 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1481941382 CA363527903 |
150 | V>A | No |
gnomAD ClinGen |
|
|
rs1178428543 CA363527909 |
150 | V>M | No |
ClinGen gnomAD |
|
|
CA3738616 rs530634176 |
151 | S>A | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs148690843 CA3738615 |
151 | S>Y | No |
ESP ExAC gnomAD ClinGen |
|
|
rs768432804 CA3738613 |
153 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs1295641081 CA363527840 |
154 | N>K | No |
TOPMed ClinGen |
|
|
rs372629654 CA3738612 |
156 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3738610 rs755834290 |
157 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1396714286 CA363527768 |
158 | H>R | No |
gnomAD ClinGen |
|
|
rs745495354 CA3738609 |
159 | S>L | No |
ExAC gnomAD ClinGen |
|
|
rs1377557023 CA363527738 |
160 | D>G | No |
gnomAD ClinGen |
|
|
CA363527722 rs1330542200 |
161 | Y>C | No |
ClinGen gnomAD |
|
|
rs376023442 CA3738607 |
162 | R>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3738606 rs750981291 |
162 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738605 rs764674790 |
163 | S>I | No |
ExAC gnomAD ClinGen |
|
|
rs373058342 CA3738604 |
163 | S>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1188559497 CA363527643 |
166 | A>T | No |
TOPMed ClinGen |
|
| TCGA novel | 168 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3738603 rs753177892 |
169 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136922224 rs143856649 |
169 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA363527549 rs1178517840 |
172 | Y>C | No |
gnomAD ClinGen |
|
|
CA363527518 rs759888336 |
174 | S>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs759888336 CA3738601 |
174 | S>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738599 rs766471830 |
178 | K>T | No |
ExAC gnomAD ClinGen |
|
|
CA3738598 rs760831214 |
180 | E>K | No |
ExAC gnomAD ClinGen |
|
|
rs149461273 CA3738578 |
187 | T>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3738575 rs762916155 |
191 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA3738576 rs767485552 |
191 | M>V | No |
ExAC gnomAD ClinGen |
|
|
rs1478299357 CA363526995 |
195 | R>S | No |
TOPMed ClinGen |
|
|
CA363526958 rs1435964697 |
197 | Q>H | No |
ClinGen gnomAD |
|
|
rs1405016690 CA363526931 |
199 | R>C | No |
gnomAD ClinGen |
|
|
rs1157978006 CA363526927 |
199 | R>H | No |
TOPMed ClinGen |
|
|
CA363526917 rs1173619904 |
200 | T>A | No |
ClinGen gnomAD |
|
|
CA363526867 rs1376323486 |
203 | V>M | No |
gnomAD ClinGen |
|
|
CA3738573 rs137975293 |
204 | A>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363526820 rs1191603334 |
205 | P>L | No |
gnomAD ClinGen |
|
|
CA363526822 rs1191603334 |
205 | P>R | No |
gnomAD ClinGen |
|
|
rs1262674919 CA363526829 |
205 | P>S | No |
gnomAD ClinGen |
|
|
rs1373330614 CA363526811 |
206 | K>R | No |
gnomAD ClinGen |
|
| TCGA novel | 207 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1301280822 CA363526756 |
208 | M>I | No |
gnomAD ClinGen |
|
|
CA363526728 rs1444165374 |
210 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA3738571 rs776221309 |
210 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363526725 rs776221309 |
210 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1199853316 CA363526719 |
211 | M>V | No |
gnomAD ClinGen |
|
|
CA3738570 rs770683569 |
212 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA363526669 rs1327291704 |
213 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 213 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746625857 CA3738569 |
214 | I>T | No |
ExAC gnomAD ClinGen |
|
|
rs777390067 CA3738568 |
215 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs771677753 CA3738567 |
216 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs201410856 CA136921928 |
216 | H>Y | No |
Ensembl ClinGen |
|
| TCGA novel | 217 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363526599 rs1275864581 |
217 | R>Q | No |
ClinGen gnomAD |
|
|
rs747623622 CA3738566 |
221 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 222 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363526455 rs1400674775 |
224 | M>I | No |
gnomAD ClinGen |
|
|
rs1396027730 CA363526458 |
224 | M>R | No |
gnomAD ClinGen |
|
|
CA3738565 rs779585330 |
225 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3738563 rs754237698 |
229 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA3738561 rs756418733 |
231 | C>F | No |
ExAC gnomAD ClinGen |
|
|
rs780281749 CA3738562 |
231 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs1349167548 CA363526181 |
238 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA363526152 rs1440690575 |
240 | R>C | No |
ClinGen gnomAD |
|
|
rs1239874793 CA363526151 |
240 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363526127 rs1389892597 |
241 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1255892283 CA363526103 |
244 | A>T | No |
ClinGen gnomAD |
|
|
CA363526077 rs1229714029 |
245 | R>T | No |
gnomAD ClinGen |
|
|
rs1350694650 CA363524524 |
246 | R>Q | No |
gnomAD ClinGen |
|
|
COSM1077837 rs1323081666 CA363524499 |
248 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA363524486 rs1396410221 |
249 | R>C | No |
gnomAD ClinGen |
|
|
CA3738546 rs375879637 |
249 | R>H | No |
ESP ExAC gnomAD ClinGen |
|
| TCGA novel | 254 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363524443 rs1159321398 |
254 | Q>R | No |
gnomAD ClinGen |
|
|
CA136920710 rs766543913 |
256 | T>I | No |
Ensembl ClinGen |
|
|
rs202223627 CA3738543 |
262 | Y>F | No |
ExAC gnomAD ClinGen |
|
|
CA363524380 rs1478210495 |
263 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA136920679 rs763127286 |
264 | Y>H | No |
Ensembl ClinGen |
|
|
rs1474142575 CA363524366 |
265 | S>F | No |
ClinGen TOPMed |
|
|
CA363524363 rs1196368040 |
266 | H>Y | No |
gnomAD ClinGen |
|
|
rs757399839 CA3738540 |
271 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
CA3738539 rs751704880 |
276 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs912205168 CA136920620 |
277 | K>* | No |
Ensembl ClinGen |
|
|
rs1274595543 CA363524253 |
282 | K>Q | No |
gnomAD ClinGen |
|
|
CA363524222 rs1403407219 |
286 | I>V | No |
gnomAD ClinGen |
|
|
rs1298896030 CA363524210 |
288 | V>M | No |
gnomAD ClinGen |
|
|
rs1419101248 CA363524199 |
289 | S>F | No |
gnomAD ClinGen |
|
|
CA363524163 rs1178941337 |
293 | N>S | No |
TOPMed ClinGen |
|
|
CA363524124 rs1415411587 |
298 | K>R | No |
gnomAD ClinGen |
|
| TCGA novel | 301 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136920453 rs976556563 |
302 | Y>C | No |
TOPMed ClinGen |
|
|
CA363524100 rs1383807052 |
302 | Y>H | No |
gnomAD ClinGen |
|
|
CA3738514 rs750313675 |
306 | I>V | No |
ExAC gnomAD ClinGen |
|
|
rs1459332255 CA363524061 |
307 | G>R | No |
gnomAD ClinGen |
|
| TCGA novel | 310 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761609684 CA3738512 |
312 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738511 rs751229633 |
315 | I>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136920406 rs777448292 |
317 | A>G | No |
Ensembl ClinGen |
|
|
CA3738509 rs774993601 |
318 | V>I | No |
ExAC gnomAD ClinGen |
|
|
CA3738508 rs774993601 |
318 | V>L | No |
ExAC gnomAD ClinGen |
|
|
CA363523977 rs1228908079 |
319 | K>R | No |
gnomAD ClinGen |
|
|
rs1378359406 CA363523971 |
320 | T>N | No |
gnomAD ClinGen |
|
|
CA136920403 rs80169725 |
320 | T>P | No |
Ensembl ClinGen |
|
|
rs183881283 CA3738506 |
321 | A>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs183881283 CA3738507 |
321 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3738505 rs777029225 |
321 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs144536029 CA3738504 |
322 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363523938 rs1301980204 |
326 | Q>R | No |
TOPMed ClinGen |
|
|
CA3738501 rs777993999 |
327 | G>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363523933 rs1236549280 |
327 | G>R | No |
TOPMed ClinGen |
|
|
CA3738496 rs750366628 |
328 | G>A | No |
ExAC gnomAD ClinGen |
|
|
rs548074947 CA3738499 |
328 | G>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3738497 rs750366628 |
328 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs548074947 CA3738498 |
328 | G>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3738495 rs781177001 |
329 | H>P | No |
ExAC gnomAD ClinGen |
|
|
rs1489213999 CA363523925 |
329 | H>Y | No |
TOPMed ClinGen |
|
|
rs757153246 CA3738494 |
331 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751338061 CA3738493 |
331 | R>H | No |
ExAC gnomAD ClinGen |
|
|
rs762660661 CA3738491 |
334 | S>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs752205434 CA3738490 |
334 | S>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738489 rs764780868 |
335 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA363523879 rs1189059844 |
337 | P>T | No |
TOPMed gnomAD ClinGen |
|
|
CA363523872 rs1312989707 |
338 | P>T | No |
gnomAD ClinGen |
|
|
rs1242305743 CA363523864 |
339 | S>Y | No |
gnomAD ClinGen |
|
|
rs1308268533 CA363523853 |
341 | A>T | No |
ClinGen gnomAD |
|
|
CA363523834 rs1453704844 |
342 | G>A | No |
TOPMed ClinGen |
|
|
rs771047877 CA3738456 |
343 | S>Y | No |
ExAC gnomAD ClinGen |
|
|
rs374280631 CA3738455 |
345 | G>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1427009011 CA363523810 |
346 | S>F | No |
TOPMed ClinGen |
|
|
CA363523797 rs1404901695 |
348 | N>S | No |
gnomAD ClinGen |
|
|
rs1303808994 CA363523788 |
349 | L>R | No |
gnomAD ClinGen |
|
|
CA363523782 rs1427503031 |
350 | S>L | No |
ClinGen gnomAD |
|
|
CA3738453 rs372961290 |
351 | G>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1385931556 CA363523767 |
353 | G>E | No |
TOPMed ClinGen |
|
|
rs778641562 CA3738451 |
354 | D>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738452 rs765891438 |
354 | D>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738449 rs753414885 |
355 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738450 rs138507194 |
355 | M>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs373170561 CA136919976 |
357 | L>M | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1459779867 CA363523727 |
359 | M>I | No |
ClinGen gnomAD |
|
|
CA363523730 rs1202818760 |
359 | M>T | No |
gnomAD ClinGen |
|
| TCGA novel | 362 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3738447 rs147090639 |
363 | N>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3738448 rs765862677 |
363 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1327303189 CA363523697 |
364 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA363523694 rs1210876222 |
365 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA3738445 rs767874807 |
367 | Y>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363523650 rs1468146351 |
371 | Q>L | No |
TOPMed ClinGen |
|
|
rs763303454 CA363523634 |
372 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs763303454 CA3738424 |
372 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363523609 rs1407260511 |
376 | R>* | No |
gnomAD ClinGen |
|
|
rs752997915 CA3738423 |
376 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363523600 rs1162990331 |
377 | H>Q | No |
gnomAD ClinGen |
|
|
rs180946541 CA3738422 |
378 | S>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3738421 rs759673703 |
379 | M>T | No |
ExAC gnomAD ClinGen |
|
|
rs547669890 CA136919826 |
380 | G>E | No |
1000Genomes ClinGen |
|
|
CA3738419 rs772114468 |
382 | G>E | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 383 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377385039 CA136919819 |
384 | Y>C | No |
ESP ClinGen |
|
|
CA3738416 rs143220345 |
389 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs749045196 CA3738415 |
390 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA3738414 rs779707864 |
391 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1051971 CA136919778 CA363523452 |
393 | M>I | No |
gnomAD ClinGen |
|
|
CA3738411 rs780549680 |
397 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1278122303 CA363523401 |
397 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs780549680 CA3738412 |
397 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3738410 rs757828985 |
399 | M>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs952997958 CA136919742 |
400 | R>T | No |
ClinGen TOPMed |
|
|
rs1221883431 CA363523269 |
403 | G>D | No |
gnomAD ClinGen |
|
|
rs745483584 CA3738393 |
406 | Q>K | No |
ExAC gnomAD ClinGen |
|
|
rs1434399865 CA363523197 |
408 | A>P | No |
TOPMed ClinGen |
|
|
CA3738392 rs780791251 |
410 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363523165 rs780791251 |
410 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1344185651 CA363523156 |
411 | P>S | No |
TOPMed ClinGen |
|
|
CA363523148 rs1335950891 |
412 | S>T | No |
gnomAD ClinGen |
|
|
rs778435687 CA3738389 |
415 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1173860647 CA363523088 |
417 | P>R | No |
gnomAD ClinGen |
|
|
rs982109696 CA136919595 |
418 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA3738387 rs748590559 |
420 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA3738386 rs779408475 |
423 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1240818974 CA363522986 |
426 | S>C | No |
gnomAD ClinGen |
No associated diseases with P40425
No regional properties for P40425
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P40425 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| 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. |
| transcription regulator complex | A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| DNA-binding transcription activator activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription 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 factor binding | Binding to a DNA-binding transcription factor, a protein that interacts with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene to modulate transcription. |
| 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. |
| 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. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| animal organ morphogenesis | Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| embryonic limb morphogenesis | The process, occurring in the embryo, by which the anatomical structures of the limb are generated and organized. A limb is an appendage of an animal used for locomotion or grasping. |
| embryonic organ development | Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. |
| eye development | The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| proximal/distal pattern formation | The regionalization process in which specific areas of cell differentiation are determined along a proximal/distal axis. The proximal/distal axis is defined by a line that runs from main body (proximal end) of an organism outward (distal end). |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P40424 | PBX1 | Pre-B-cell leukemia transcription factor 1 | Homo sapiens (Human) | PR |
| Q8IUE1 | TGIF2LX | Homeobox protein TGIF2LX | Homo sapiens (Human) | PR |
| O14770 | MEIS2 | Homeobox protein Meis2 | Homo sapiens (Human) | EV |
| Q99687 | MEIS3 | Homeobox protein Meis3 | Homo sapiens (Human) | SS |
| O00470 | MEIS1 | Homeobox protein Meis1 | Homo sapiens (Human) | SS |
| A8K0S8 | MEIS3P2 | Putative homeobox protein Meis3-like 2 | Homo sapiens (Human) | PR |
| A6NDR6 | MEIS3P1 | Putative homeobox protein Meis3-like 1 | Homo sapiens (Human) | PR |
| O35984 | Pbx2 | Pre-B-cell leukemia transcription factor 2 | Mus musculus (Mouse) | PR |
| Q75LX9 | Os03g0673500 | Putative homeobox protein knotted-1-like 5 | Oryza sativa subsp japonica (Rice) | PR |
| Q75LX7 | OSH10 | Homeobox protein knotted-1-like 4 | Oryza sativa subsp japonica (Rice) | PR |
| Q19503 | ceh-40 | Homeobox protein ceh-40 | Caenorhabditis elegans | PR |
| Q1PFD1 | BLH11 | BEL1-like homeodomain protein 11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIW1 | BLH7 | BEL1-like homeodomain protein 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDERLLGPPP | PGGGRGGLGL | VSGEPGGPGE | PPGGGDPGGG | SGGVPGGRGK | QDIGDILQQI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MTITDQSLDE | AQAKKHALNC | HRMKPALFSV | LCEIKEKTGL | SIRSSQEEEP | VDPQLMRLDN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MLLAEGVAGP | EKGGGSAAAA | AAAAASGGGV | SPDNSIEHSD | YRSKLAQIRH | IYHSELEKYE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QACNEFTTHV | MNLLREQSRT | RPVAPKEMER | MVSIIHRKFS | AIQMQLKQST | CEAVMILRSR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FLDARRKRRN | FSKQATEVLN | EYFYSHLSNP | YPSEEAKEEL | AKKCGITVSQ | VSNWFGNKRI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RYKKNIGKFQ | EEANIYAVKT | AVSVTQGGHS | RTSSPTPPSS | AGSGGSFNLS | GSGDMFLGMP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLNGDSYSAS | QVESLRHSMG | PGGYGDNLGG | GQMYSPREMR | ANGSWQEAVT | PSSVTSPTEG |
| PGSVHSDTSN |