Q99811
PR
Gene name |
PRRX2 (PMX2, PRX2) |
Protein name |
Paired mesoderm homeobox protein 2 |
Names |
Paired-related homeobox protein 2, PRX-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51450 |
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 Q99811
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q99811-F1 | Predicted | AlphaFoldDB |
227 variants for Q99811
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA200518767 rs938263042 |
3 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375194848 rs1468841867 |
7 | A>G | No |
ClinGen TOPMed |
|
|
rs1179727559 CA375194853 |
8 | F>L | No |
ClinGen TOPMed |
|
|
rs1261831743 CA375194895 |
11 | D>E | No |
ClinGen TOPMed |
|
|
CA200518769 rs1055253845 |
14 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs915395706 CA200518776 |
22 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA375195004 rs1177701164 |
23 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375195016 rs1448731213 |
24 | P>R | No |
ClinGen TOPMed |
|
|
CA375195022 rs1380215471 |
25 | A>P | No |
ClinGen TOPMed |
|
|
CA375195042 rs1336031349 |
27 | G>E | No |
ClinGen TOPMed |
|
|
rs758869156 CA5277833 |
27 | G>R | No |
ClinGen ExAC |
|
|
rs1588158640 CA375195048 |
28 | P>S | No |
ClinGen Ensembl |
|
|
CA375195055 rs1312293521 |
29 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375195065 rs1428612316 |
30 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA375195082 rs1360959536 |
31 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1360959536 CA375195081 |
31 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5277834 rs764488857 |
33 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA375195108 rs946824103 |
34 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA200518796 rs946824103 |
34 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1250242905 CA375195112 |
35 | R>C | No |
ClinGen gnomAD |
|
|
CA375195114 rs1465527857 |
35 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375195116 rs1588158676 |
36 | K>Q | No |
ClinGen Ensembl |
|
|
CA375195119 rs1588158679 |
36 | K>T | No |
ClinGen Ensembl |
|
|
CA375195144 rs1183213708 |
39 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375195145 rs1183213708 |
39 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA375195163 rs1588158686 |
42 | H>P | No |
ClinGen Ensembl |
|
|
rs1042449148 CA200518809 |
43 | L>F | No |
ClinGen TOPMed |
|
|
rs1383545219 CA375195192 |
46 | L>P | No |
ClinGen gnomAD |
|
|
rs751868612 CA5277835 |
47 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs902523494 CA200518812 |
50 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375195246 rs1407194222 |
51 | A>G | No |
ClinGen gnomAD |
|
|
rs1407194222 CA375195247 |
51 | A>V | No |
ClinGen gnomAD |
|
|
rs1302316882 CA375195256 |
53 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375195269 rs1241811834 |
54 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 54 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375195333 rs1396361425 |
61 | A>V | No |
ClinGen TOPMed |
|
|
rs1052121052 CA375195383 |
66 | R>L | No |
ClinGen TOPMed |
|
|
rs1052121052 CA200518823 |
66 | R>Q | No |
ClinGen TOPMed |
|
|
CA375195389 rs1428740696 |
67 | E>Q | No |
ClinGen TOPMed |
|
|
rs1359909349 CA375195405 |
68 | G>D | No |
ClinGen TOPMed |
|
|
rs1421703028 CA375195411 |
69 | A>E | No |
ClinGen TOPMed |
|
|
CA200518825 rs890419182 |
69 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1007476220 CA200518828 |
71 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1163394214 CA375195437 |
72 | E>K | No |
ClinGen TOPMed |
|
|
CA375195453 rs1424757865 |
73 | P>S | No |
ClinGen TOPMed |
|
|
CA375195478 rs1485276117 |
75 | G>E | No |
ClinGen TOPMed |
|
|
rs1185218917 CA375195473 |
75 | G>R | No |
ClinGen TOPMed |
|
|
CA375195482 rs1485276117 |
75 | G>V | No |
ClinGen TOPMed |
|
|
rs1489743011 CA375195489 |
76 | G>D | No |
ClinGen TOPMed |
|
|
rs1451536575 CA375195505 |
77 | S>I | No |
ClinGen gnomAD |
|
|
CA200518836 rs898981546 |
84 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375195604 rs1564361899 |
84 | P>S | No |
ClinGen Ensembl |
|
|
rs1293358907 CA375195643 |
86 | D>G | No |
ClinGen TOPMed |
|
|
CA5277861 rs751921861 |
88 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 88 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410492129 CA375183496 |
88 | E>K | No |
ClinGen gnomAD |
|
|
rs994213997 CA200505714 |
90 | P>A | No |
ClinGen gnomAD |
|
|
rs994213997 CA375183533 |
90 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375183535 rs994213997 |
90 | P>T | No |
ClinGen gnomAD |
|
|
CA5277863 rs767772157 |
91 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA375183546 rs1416960570 |
91 | S>R | No |
ClinGen TOPMed |
|
|
rs1414639629 CA375183568 |
92 | P>A | No |
ClinGen gnomAD |
|
|
CA5277864 rs777230786 |
92 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777230786 CA375183572 |
92 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488153678 CA375183608 |
95 | G>R | No |
ClinGen TOPMed |
|
|
rs527354835 CA375183653 |
98 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5277866 rs527354835 |
98 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527354835 CA200505767 |
98 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752216948 CA5277867 |
98 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746928887 CA375183693 |
100 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs770826522 CA5277871 |
100 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 100 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5277870 rs746928887 |
100 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs201179051 CA5277873 |
103 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149764500 CA200505798 |
104 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA375183818 rs1367539391 |
105 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs775573934 CA5277875 |
106 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs775573934 CA375183833 |
106 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769856483 CA5277874 |
106 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA375183912 rs1478186607 |
110 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs529534534 CA200505809 |
110 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs529534534 CA375183918 |
110 | T>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs774909161 CA5277878 |
113 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5277879 rs762197918 |
114 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5277880 rs370267786 |
114 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375184002 rs762197918 |
114 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA375184029 rs1425141634 |
114 | S>R | No |
ClinGen TOPMed |
|
| TCGA novel | 117 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375184087 rs1234324659 |
118 | A>S | No |
ClinGen gnomAD |
|
|
CA200505861 rs537937463 |
120 | E>G | No |
ClinGen Ensembl |
|
|
CA375184146 rs1432466761 |
121 | R>C | No |
ClinGen TOPMed |
|
|
rs373913153 CA5277885 |
121 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373913153 CA200505865 |
121 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375184159 rs1275390543 |
122 | V>L | No |
ClinGen gnomAD |
|
|
CA375184191 rs1220083550 |
123 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375184186 rs1490166466 |
123 | F>S | No |
ClinGen gnomAD |
|
|
rs777417092 CA5277887 |
124 | E>K | No |
ClinGen ExAC |
|
|
CA5277889 rs546912518 |
125 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA375184217 COSM1674888 rs1192092638 |
125 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5277890 rs781060799 |
126 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5277891 rs745608136 |
126 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA375184221 rs781060799 |
126 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200505914 rs988169193 |
129 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1231172100 CA375184291 |
129 | P>L | No |
ClinGen TOPMed |
|
|
CA375184285 rs988169193 |
129 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756329628 CA5277892 CA5277893 |
130 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1311277638 COSM3703497 CA375184296 |
130 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs868425102 CA200505935 |
131 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375184358 rs1230797457 |
134 | R>C | No |
ClinGen gnomAD |
|
|
CA200505947 rs967508797 |
135 | E>K | No |
ClinGen Ensembl |
|
|
rs1267125624 CA375184461 |
138 | A>S | No |
ClinGen gnomAD |
|
|
CA200505970 rs569564205 |
138 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1259322267 CA375184520 |
139 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA375184511 rs1259322267 |
139 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs748715547 CA5277898 |
139 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA375184537 rs1188791336 |
140 | R>L | No |
ClinGen gnomAD |
|
|
rs773632263 CA5277900 |
140 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs766838695 CA5277902 |
141 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA375184555 rs766838695 |
141 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5277903 rs775348667 |
142 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA375184604 rs1447044026 |
142 | N>T | No |
ClinGen TOPMed |
|
|
CA375184672 rs202114136 |
145 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202114136 CA5277904 |
145 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1458826732 CA375184722 |
146 | A>S | No |
ClinGen gnomAD |
|
|
rs763744669 CA5277905 |
147 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1437616147 CA375184781 |
148 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747544751 CA5277918 |
155 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 155 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1014263967 CA375185227 |
157 | A>S | No |
ClinGen TOPMed |
|
|
rs1014263967 CA200507241 |
157 | A>T | No |
ClinGen TOPMed |
|
|
CA5277922 rs762716963 |
158 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5277924 rs773912196 |
160 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1178504612 CA375185301 |
160 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375185300 rs773912196 |
160 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1359861030 CA375185347 |
163 | E>G | No |
ClinGen gnomAD |
|
|
CA5277926 rs767037621 |
164 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs767037621 CA375185362 |
164 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1410284010 CA375185390 |
165 | A>G | No |
ClinGen gnomAD |
|
|
rs545291388 CA5277927 |
165 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760586243 CA5277928 |
166 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1176395326 CA375185397 |
166 | M>V | No |
ClinGen TOPMed |
|
|
CA375185432 rs1365208963 |
168 | A>P | No |
ClinGen gnomAD |
|
|
rs971574318 CA375185460 |
170 | R>C | No |
ClinGen TOPMed |
|
|
CA200507269 rs971574318 |
170 | R>G | No |
ClinGen TOPMed |
|
|
CA5277929 rs766187907 |
170 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5277930 rs766187907 |
170 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140591214 CA5277932 |
172 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200507279 rs145779250 |
172 | A>P | No |
ClinGen ESP TOPMed |
|
|
CA375185488 rs145779250 |
172 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA200507293 rs144448846 |
173 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 174 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484333111 CA375185531 |
175 | L>P | No |
ClinGen gnomAD |
|
|
rs777876138 CA5277935 |
177 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5277936 rs567572265 |
178 | Y>C | No |
ClinGen 1000Genomes ExAC |
|
|
rs771515908 CA5277937 |
180 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5277938 rs781713116 |
181 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990441293 CA200507316 |
181 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs867383311 CA375185683 |
183 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1430394400 CA375185681 |
183 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867383311 CA200507351 |
183 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375185701 rs768366620 |
184 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200507353 rs765923715 |
184 | I>V | No |
ClinGen Ensembl |
|
|
rs773930013 CA200507355 |
185 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5277941 rs773930013 |
185 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5277942 rs761498521 |
188 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA375185792 rs1360844210 |
188 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA375185778 rs1360844210 |
188 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5277944 rs772733281 |
189 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5277945 rs141327412 |
189 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA375185863 rs1320390197 |
190 | P>L | No |
ClinGen gnomAD |
|
|
rs1471511754 CA375185848 |
190 | P>S | No |
ClinGen TOPMed |
|
|
rs753647365 CA5277947 |
191 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188551465 CA375185878 |
191 | R>Q | No |
ClinGen TOPMed |
|
|
rs1205821485 CA375185902 |
192 | P>A | No |
ClinGen TOPMed |
|
|
rs1588178522 CA375185937 |
193 | T>P | No |
ClinGen Ensembl |
|
|
rs1250052794 CA375185985 |
194 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs143393943 CA5277950 |
195 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5277952 rs201217720 |
196 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751649295 CA5277954 |
197 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781739454 CA5277955 |
197 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751649295 CA5277953 |
197 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375186129 rs148368723 |
199 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200507411 rs923356508 |
199 | Y>D | No |
ClinGen TOPMed |
|
|
CA5277956 rs148368723 |
199 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs569824624 CA5277957 |
200 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5277959 rs140111310 |
201 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771719938 CA5277960 |
205 | S>L | No |
ClinGen ExAC |
|
|
CA375186357 rs1377624076 |
206 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs552481765 CA5277963 |
207 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1291111814 CA375186372 |
207 | P>R | No |
ClinGen gnomAD |
|
|
rs552481765 CA5277964 |
207 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552481765 CA5277962 |
207 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1207102150 CA375186423 |
208 | Y>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 208 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5277986 rs763963937 |
212 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA375187625 rs1350977712 |
213 | P>H | No |
ClinGen gnomAD |
|
|
CA375187674 rs530773145 |
214 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5277987 rs530773145 |
214 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762092376 CA5277988 |
215 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5277989 rs150293718 |
219 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375187817 rs1218237518 |
219 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1448251545 CA375187853 |
220 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 220 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375187898 rs1370493903 |
221 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750493450 CA5277990 |
221 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs566612578 CA5277993 |
222 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5277992 rs566612578 |
222 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375188014 rs1433677321 |
224 | P>S | No |
ClinGen TOPMed |
|
|
rs1351483775 CA375188073 |
225 | G>A | No |
ClinGen gnomAD |
|
|
CA5277994 rs755437873 |
226 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5277995 rs779219560 |
227 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1347338627 CA375188180 |
228 | M>T | No |
ClinGen gnomAD |
|
|
rs746715077 CA5277996 |
230 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA375188288 rs1482039047 |
231 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5277999 rs745318451 |
233 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769631139 CA5278000 |
235 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs202233874 CA5278001 |
236 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201083423 CA5278002 |
236 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1239397892 CA375188492 |
238 | K>R | No |
ClinGen TOPMed |
|
|
rs762161505 CA5278006 |
240 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5278008 rs773183325 |
243 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA375188765 rs1477838684 |
247 | S>G | No |
ClinGen gnomAD |
|
|
CA200508799 rs1051800830 |
249 | V>L | No |
ClinGen TOPMed |
|
|
CA5278009 rs143523637 |
251 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
No associated diseases with Q99811
2 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity | A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. |
| 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. |
| 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 double-stranded DNA binding | Binding to double-stranded 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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNI8 | LHX9 | LIM/homeobox protein Lhx9 | Bos taurus (Bovine) | PR |
| Q90881 | LHX9 | LIM/homeobox protein Lhx9 | Gallus gallus (Chicken) | PR |
| F1NEA7 | DMBX1 | Diencephalon/mesencephalon homeobox protein 1 | Gallus gallus (Chicken) | PR |
| Q90963 | PRRX2 | Paired mesoderm homeobox protein 2 | Gallus gallus (Chicken) | PR |
| Q8IRC7 | Awh | LIM/homeobox protein Awh | Drosophila melanogaster (Fruit fly) | PR |
| Q8NHV9 | RHOXF1 | Rhox homeobox family member 1 | Homo sapiens (Human) | PR |
| Q9NQ69 | LHX9 | LIM/homeobox protein Lhx9 | Homo sapiens (Human) | PR |
| O95076 | ALX3 | Homeobox protein aristaless-like 3 | Homo sapiens (Human) | PR |
| Q9BQY4 | RHOXF2 | Rhox homeobox family member 2 | Homo sapiens (Human) | PR |
| P50458 | LHX2 | LIM/homeobox protein Lhx2 | Homo sapiens (Human) | PR |
| O15266 | SHOX | Short stature homeobox protein | Homo sapiens (Human) | PR |
| O14813 | PHOX2A | Paired mesoderm homeobox protein 2A | Homo sapiens (Human) | PR |
| Q8VIH1 | Nobox | Homeobox protein NOBOX | Mus musculus (Mouse) | PR |
| O88933 | Esx1 | Extraembryonic, spermatogenesis, homeobox 1 (Homeobox protein SPX1) (Homeodomain protein EPX) | Mus musculus (Mouse) | EV |
| Q9WUH2 | Lhx9 | LIM/homeobox protein Lhx9 | Mus musculus (Mouse) | PR |
| P63013 | Prrx1 | Paired mesoderm homeobox protein 1 | Mus musculus (Mouse) | PR |
| Q06348 | Prrx2 | Paired mesoderm homeobox protein 2 | Mus musculus (Mouse) | PR |
| Q62066 | Phox2a | Paired mesoderm homeobox protein 2A | Mus musculus (Mouse) | PR |
| Q80W90 | Lhx9 | LIM/homeobox protein Lhx9 | Rattus norvegicus (Rat) | PR |
| P36198 | Lhx2 | LIM/homeobox protein Lhx2 | Rattus norvegicus (Rat) | PR |
| Q28G02 | siamois | Homeobox protein siamois | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q566X8 | dmbx1b | Diencephalon/mesencephalon homeobox protein 1-B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q1LWV4 | lhx9 | LIM/homeobox protein Lhx9 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDSAAAAFAL | DKPALGPGPP | PPPPALGPGD | CAQARKNFSV | SHLLDLEEVA | AAGRLAARPG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ARAEAREGAA | REPSGGSSGS | EAAPQDGECP | SPGRGSAAKR | KKKQRRNRTT | FNSSQLQALE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RVFERTHYPD | AFVREELARR | VNLSEARVQV | WFQNRRAKFR | RNERAMLASR | SASLLKSYSQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EAAIEQPVAP | RPTALSPDYL | SWTASSPYST | VPPYSPGSSG | PATPGVNMAN | SIASLRLKAK |
| 250 | |||||
| EFSLHHSQVP | TVN |