Q13761
PR
Gene name |
RUNX3 (AML2, CBFA3, PEBP2A3) |
Protein name |
Runt-related transcription factor 3 |
Names |
Acute myeloid leukemia 2 protein, Core-binding factor subunit alpha-3, CBF-alpha-3, Oncogene AML-2, Polyomavirus enhancer-binding protein 2 alpha C subunit, PEA2-alpha C, PEBP2-alpha C, SL3-3 enhancer factor 1 alpha C subunit, SL3/AKV core-binding factor alpha C subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:864 |
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
2 structures for Q13761
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5W69 | X-ray | 280 A | I/J/K/L | 133-141 | PDB |
| AF-Q13761-F1 | Predicted | AlphaFoldDB |
301 variants for Q13761
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA339061232 rs1417499517 |
10 | S>R | No |
ClinGen gnomAD |
|
|
rs1395940365 CA339061219 |
12 | R>L | No |
ClinGen gnomAD |
|
|
CA339061224 rs1436778512 |
12 | R>S | No |
ClinGen gnomAD |
|
|
rs1193327322 CA339061195 |
16 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1187674668 CA339061183 |
18 | P>Q | No |
ClinGen gnomAD |
|
|
rs1381927523 CA339061177 |
19 | A>T | No |
ClinGen TOPMed |
|
|
CA339061149 rs1312340300 |
20 | F>C | No |
ClinGen TOPMed |
|
|
rs541751931 CA19429928 |
21 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA339061131 rs1388961187 |
22 | C>G | No |
ClinGen TOPMed |
|
|
rs1231804510 CA339061114 |
23 | G>C | No |
ClinGen gnomAD |
|
|
rs1296185757 CA339061109 |
24 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339061096 rs1381623551 |
25 | G>D | No |
ClinGen gnomAD |
|
|
CA339061025 rs1267426208 |
29 | M>I | No |
ClinGen gnomAD |
|
|
CA339061012 rs1287145408 |
30 | G>D | No |
ClinGen gnomAD |
|
|
rs1416712712 CA339060995 |
31 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1376216060 CA339060955 |
33 | S>I | No |
ClinGen gnomAD |
|
|
rs1047567432 CA19429920 |
34 | G>C | No |
ClinGen gnomAD |
|
|
rs1405358401 CA339060920 |
35 | A>G | No |
ClinGen TOPMed |
|
|
CA339060898 rs1375189915 |
37 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA339060890 rs1171697165 |
37 | S>I | No |
ClinGen gnomAD |
|
|
CA339060866 rs1428399174 |
39 | Q>K | No |
ClinGen gnomAD |
|
|
CA339060819 rs1189366601 |
41 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1260277851 CA339060831 |
41 | A>T | No |
ClinGen gnomAD |
|
|
CA339060808 rs1256353570 |
42 | V>A | No |
ClinGen gnomAD |
|
|
rs763209861 CA693178 |
42 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763209861 CA19429914 |
42 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339060790 rs1481476314 |
44 | P>T | No |
ClinGen gnomAD |
|
|
CA693176 rs765400228 |
45 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs949268107 CA19429901 |
45 | G>R | No |
ClinGen Ensembl |
|
|
CA339060735 rs761778827 |
48 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761778827 CA339060733 |
48 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235207909 CA339060742 |
48 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339060747 rs1235207909 |
48 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA693175 rs761778827 |
48 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380240270 CA339060718 |
49 | R>L | No |
ClinGen TOPMed |
|
|
CA339060726 rs1312473198 |
49 | R>W | No |
ClinGen gnomAD |
|
|
rs777219005 CA693173 |
54 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA339060619 rs1461801383 |
55 | M>V | No |
ClinGen gnomAD |
|
|
rs1371844006 CA339060588 |
56 | V>L | No |
ClinGen gnomAD |
|
|
CA339060561 rs971204415 |
57 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
COSM464331 CA339060555 COSM464332 CA693171 rs761109803 |
58 | V>L | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC gnomAD NCI-TCGA |
|
rs1185203811 CA339060514 |
60 | A>V | No |
ClinGen gnomAD |
|
|
CA339060505 rs1250818708 |
61 | D>N | No |
ClinGen gnomAD |
|
|
rs745591319 CA693168 |
61 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA693167 rs778509531 |
62 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs770526185 CA693166 |
63 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339060390 rs1292707191 |
66 | L>F | No |
ClinGen gnomAD |
|
|
CA693162 CA339060369 rs747971057 |
67 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19429791 rs781199590 |
68 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA693161 rs781199590 |
68 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA339060325 rs1389699292 |
69 | T>I | No |
ClinGen TOPMed |
|
|
CA693160 rs372120418 |
70 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435180683 CA339060284 |
72 | P>H | No |
ClinGen TOPMed |
|
|
CA339060212 rs1313544148 |
78 | V>L | No |
ClinGen gnomAD |
|
|
rs757386888 CA693157 |
81 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs574994953 CA19429744 |
90 | P>A | No |
ClinGen Ensembl |
|
|
rs966903105 CA339060008 |
91 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs966903105 CA19429723 |
91 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339059635 rs1376044184 |
96 | V>M | No |
ClinGen Ensembl |
|
|
CA693085 rs753532923 |
100 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA339059603 rs1487446167 |
101 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760214686 CA693083 |
102 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774077450 CA693079 |
106 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA339059564 rs1571323276 |
107 | V>G | No |
ClinGen Ensembl |
|
|
CA339059487 rs1399961004 |
118 | S>T | No |
ClinGen gnomAD |
|
|
rs1424371682 CA339059461 |
122 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339059459 rs1365666470 |
122 | R>P | No |
ClinGen TOPMed |
|
|
rs968910964 CA19428305 |
124 | A>V | No |
ClinGen TOPMed |
|
|
rs376534647 CA19428302 |
125 | S>L | No |
ClinGen ESP TOPMed |
|
|
CA693067 rs144797417 |
127 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1277097212 CA339059398 |
131 | Q>L | No |
ClinGen gnomAD |
|
|
CA339059383 rs1198123340 |
134 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA693066 rs763795673 |
135 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs755613295 CA693065 |
135 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs755613295 CA339059374 |
135 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA693063 rs767371149 |
137 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 138 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759577669 CA693062 |
139 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA19428250 rs997790972 |
141 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1338525855 COSM1502090 CA339059300 COSM1502091 |
143 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1045650192 CA19423957 |
155 | T>A | No |
ClinGen Ensembl |
|
|
CA339059089 rs1571315024 |
159 | N>T | No |
ClinGen Ensembl |
|
|
CA19423948 rs982067991 |
163 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA693025 rs780686671 |
166 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs780686671 CA339059045 |
166 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA339059029 rs1218697063 |
168 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA339059026 rs1280209983 |
169 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM252796 CA339058995 COSM252795 rs1296661198 |
174 | V>M | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM183896 rs1176040209 CA339058967 |
178 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 179 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915736243 CA19423912 |
180 | P>H | No |
ClinGen Ensembl |
|
|
CA339058954 rs1425104729 |
180 | P>S | No |
ClinGen gnomAD |
|
|
CA693021 rs758386128 |
182 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA339058925 rs1571302853 |
183 | H>P | No |
ClinGen Ensembl |
|
|
rs767867664 CA339058917 |
184 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs767867664 CA692997 |
184 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339058884 rs1571302817 |
189 | D>A | No |
ClinGen Ensembl |
|
|
rs1162423346 CA339058887 |
189 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs866066471 CA19416766 |
190 | Q>* | No |
ClinGen Ensembl |
|
|
rs1253273782 CA339058872 |
191 | T>A | No |
ClinGen TOPMed |
|
|
rs1253273782 CA339058871 |
191 | T>P | No |
ClinGen TOPMed |
|
|
rs762919599 CA692993 |
193 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249853886 CA339058844 |
195 | P>A | No |
ClinGen TOPMed |
|
|
rs1211732134 CA339058829 |
197 | R>C | No |
ClinGen gnomAD |
|
|
CA692991 rs765595220 |
197 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA339058819 rs1488891705 |
198 | F>L | No |
ClinGen gnomAD |
|
|
CA692990 rs762251995 |
203 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA19416747 rs768608661 |
203 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776915439 COSM3670154 CA692989 COSM3670155 |
205 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 207 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746700911 CA692987 |
207 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA692988 rs769002121 |
207 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA339058761 rs1571302715 |
208 | V>G | No |
ClinGen Ensembl |
|
|
rs775099136 CA692986 |
209 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1264689 COSM1264688 rs771588241 CA692985 |
210 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA339058752 rs771588241 |
210 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA692983 rs778917537 |
211 | S>G | No |
ClinGen ExAC |
|
|
rs1300957889 CA339058739 |
212 | T>K | No |
ClinGen gnomAD |
|
|
rs749237653 CA339058736 |
213 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA19416675 rs540792203 |
213 | P>L | No |
ClinGen Ensembl |
|
|
CA692981 rs749237653 |
213 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1026441430 CA19416669 |
215 | P>A | No |
ClinGen Ensembl |
|
|
CA692978 COSM3764171 COSM3764172 rs150755558 |
216 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1013997091 CA19416661 |
217 | G>D | No |
ClinGen TOPMed |
|
|
CA339058712 rs1013997091 |
217 | G>V | No |
ClinGen TOPMed |
|
|
CA339058691 rs1201087713 |
221 | T>P | No |
ClinGen gnomAD |
|
|
rs758538444 CA692976 |
222 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA692977 rs766660071 |
222 | T>P | No |
ClinGen ExAC |
|
|
rs1470776244 CA339058680 |
223 | S>G | No |
ClinGen TOPMed |
|
|
CA339058670 rs1571302619 |
224 | H>P | No |
ClinGen Ensembl |
|
|
rs896516410 CA19416643 |
225 | F>L | No |
ClinGen Ensembl |
|
|
rs1240368756 CA339058654 |
226 | S>T | No |
ClinGen gnomAD |
|
|
rs922182168 CA19416613 |
227 | S>R | No |
ClinGen TOPMed |
|
|
CA19416608 rs974990052 |
230 | Q>H | No |
ClinGen TOPMed |
|
|
CA19416604 rs1057413632 |
231 | T>A | No |
ClinGen Ensembl |
|
|
COSM221901 COSM221900 CA339058615 rs1189881850 |
232 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA692974 rs765346986 |
234 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1349151384 CA339058595 |
235 | G>C | No |
ClinGen gnomAD |
|
|
CA339264154 rs1571298381 |
236 | T>P | No |
ClinGen Ensembl |
|
|
CA692946 rs138540348 |
237 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA692944 rs773316066 |
238 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571298359 CA339264128 |
240 | N>T | No |
ClinGen Ensembl |
|
|
CA339264121 rs1442286072 |
241 | P>L | No |
ClinGen gnomAD |
|
|
CA339264109 rs1571298348 |
243 | S>P | No |
ClinGen Ensembl |
|
|
rs1571298331 CA339264101 |
244 | D>A | No |
ClinGen Ensembl |
|
|
rs1199970442 CA339264104 |
244 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA692942 rs748083603 |
245 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs996167542 CA19551223 |
245 | P>S | No |
ClinGen gnomAD |
|
|
CA339264095 rs996167542 |
245 | P>T | No |
ClinGen gnomAD |
|
|
rs781197629 CA692941 |
246 | R>C | Variant assessed as Somatic; 5.663e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA692939 rs370478884 |
246 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA19551222 rs200276750 |
249 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA19551221 rs900477986 |
249 | D>V | No |
ClinGen Ensembl |
|
|
COSM1127049 CA692938 COSM1127048 rs746125249 |
250 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs779143364 CA692937 |
250 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038128621 CA19551220 |
252 | F>L | No |
ClinGen Ensembl |
|
|
rs757310070 CA692936 |
252 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1401069996 CA339264045 |
253 | P>L | No |
ClinGen gnomAD |
|
|
rs753845732 CA692935 |
254 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339264041 rs753845732 |
254 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967395785 CA19551219 |
257 | T>A | No |
ClinGen TOPMed |
|
|
rs1164196174 CA339264026 |
257 | T>N | No |
ClinGen gnomAD |
|
|
rs756674957 CA339264013 |
259 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3386042 COSM3386041 rs756674957 CA692933 |
259 | T>M | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA339264002 rs1181102177 |
261 | S>C | No |
ClinGen gnomAD |
|
|
rs1458632956 CA339263994 |
262 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA692932 rs753201950 |
262 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759924278 CA692930 |
264 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA19551217 rs929851497 |
264 | P>R | No |
ClinGen Ensembl |
|
|
rs759924278 CA339263983 |
264 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339263971 rs1290214315 |
266 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1357059888 CA339263952 |
268 | M>I | No |
ClinGen gnomAD |
|
|
rs374244612 CA692928 |
272 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 273 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA692926 rs772914903 |
273 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA19551216 rs890322655 |
274 | M>T | No |
ClinGen TOPMed |
|
|
rs1324517230 CA339263882 |
279 | P>A | No |
ClinGen gnomAD |
|
|
CA692924 rs761881794 |
281 | S>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3741192 COSM3741193 CA692922 rs149811022 |
282 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA339263854 rs746774033 |
283 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA692921 rs746774033 |
283 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs201347846 CA692919 |
284 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201347846 CA339263852 |
284 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA692918 rs202187723 |
285 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA339263840 rs1287819421 |
286 | G>C | No |
ClinGen gnomAD |
|
|
rs777898130 CA692917 |
287 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348209393 CA339263828 |
288 | S>N | No |
ClinGen TOPMed |
|
|
rs1348209393 CA339263827 |
288 | S>T | No |
ClinGen TOPMed |
|
|
rs1282139095 CA339263821 |
289 | I>V | No |
ClinGen gnomAD |
|
|
CA19551213 rs35659838 |
292 | L>F | No |
ClinGen Ensembl |
|
|
CA339263786 rs142450822 |
294 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA692911 rs142450822 |
294 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs947627767 CA19551212 |
295 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA339263777 rs1439958484 |
296 | G>S | No |
ClinGen gnomAD |
|
|
CA692907 rs761358150 |
297 | M>I | No |
ClinGen ExAC |
|
|
rs764020894 CA692905 |
298 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA692906 rs776461398 |
298 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775410786 CA692903 |
299 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs886103883 CA19551211 |
300 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA692902 rs202015637 |
300 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA692901 rs749556676 |
302 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA339263740 rs1479215152 |
302 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339263723 rs1046597119 |
304 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA692900 rs773403827 |
305 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3386040 COSM3386039 rs769885411 CA339263690 |
309 | P>L | Variant assessed as Somatic; 4.685e-05 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs769885411 CA692899 |
309 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 309 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531744762 CA19551209 |
310 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1571297918 CA339263674 |
312 | Y>C | No |
ClinGen Ensembl |
|
|
rs755456342 CA692896 |
313 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339263662 rs1223050772 |
314 | G>E | No |
ClinGen gnomAD |
|
|
CA692894 rs780505199 |
315 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1361650293 COSM907463 CA339263650 COSM907464 |
316 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs750121597 CA692892 |
316 | P>S | No |
ClinGen ExAC |
|
| TCGA novel | 319 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339263622 rs1450739468 |
320 | S>I | No |
ClinGen gnomAD |
|
|
rs756828615 CA339263619 |
320 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339263613 rs1467828799 |
321 | G>E | No |
ClinGen gnomAD |
|
|
CA692889 rs34188858 |
321 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760735120 CA692887 |
323 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427593800 CA339263592 |
324 | Q>H | No |
ClinGen gnomAD |
|
|
CA339263581 rs1417069478 |
326 | N>S | No |
ClinGen gnomAD |
|
|
CA19551207 rs926240296 |
327 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA339263575 rs1183394979 |
327 | P>S | No |
ClinGen gnomAD |
|
|
rs1460064918 CA339263562 |
329 | P>L | No |
ClinGen gnomAD |
|
|
CA692885 rs767353441 |
329 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA339263546 rs1249011202 |
331 | H>Q | No |
ClinGen gnomAD |
|
|
rs1228365132 CA339263545 |
332 | L>F | No |
ClinGen gnomAD |
|
|
rs773454826 CA692884 CA692883 |
335 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA692882 rs769937834 |
337 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA19551205 rs1006669226 |
338 | S>A | No |
ClinGen Ensembl |
|
|
CA692880 rs776831878 |
338 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339263478 rs1257013779 |
342 | Q>H | No |
ClinGen TOPMed |
|
|
CA692878 rs747599483 |
343 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA339263462 rs1209824432 |
345 | M>V | No |
ClinGen TOPMed |
|
|
rs772595772 CA692876 |
348 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372541410 CA692875 |
349 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756989621 CA692873 |
350 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs753425598 CA692872 |
350 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755561860 CA692870 |
354 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 354 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 354 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA692869 rs752706729 |
355 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339263395 rs1249893147 |
355 | R>H | No |
ClinGen gnomAD |
|
|
rs1221899229 CA339263384 |
357 | P>L | No |
ClinGen gnomAD |
|
|
CA692868 rs767402640 |
357 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1314832250 CA339263380 |
358 | T>A | No |
ClinGen gnomAD |
|
|
CA692866 rs369172095 |
359 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs572355211 CA692865 |
359 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA692863 rs776694037 |
361 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA692862 rs768802277 |
362 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA339263338 rs1458121047 |
365 | T>A | No |
ClinGen gnomAD |
|
|
rs760630862 CA692861 |
365 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339263335 rs760630862 |
365 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303265556 CA339263333 |
366 | S>G | No |
ClinGen TOPMed |
|
|
rs776141481 CA692860 |
367 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs111625995 CA19551203 |
367 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA19551202 rs996019598 |
368 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339263301 rs1248650664 |
371 | V>F | No |
ClinGen gnomAD |
|
|
rs142303780 CA692858 |
372 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA692856 rs771171662 |
373 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339263288 rs1356463098 |
373 | A>V | No |
ClinGen gnomAD |
|
|
rs1557834099 CA339263284 |
374 | G>A | No |
ClinGen Ensembl |
|
|
rs777246232 CA692854 |
374 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339263278 rs1405115678 |
375 | N>S | No |
ClinGen gnomAD |
|
|
rs1301058582 CA339263264 |
377 | M>T | No |
ClinGen gnomAD |
|
|
CA339263259 rs1421347246 |
378 | N>D | No |
ClinGen gnomAD |
|
|
CA692852 rs752136706 |
378 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs781120958 CA692851 |
379 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781120958 CA339263252 |
379 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339263246 rs1346065684 |
380 | S>G | No |
ClinGen gnomAD |
|
|
CA692850 rs754968170 |
380 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs905615488 CA19551199 |
382 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1158621299 CA339263235 |
382 | G>S | No |
ClinGen gnomAD |
|
|
CA19551198 rs868718243 |
383 | G>D | No |
ClinGen TOPMed |
|
|
rs766208403 CA692848 |
383 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339263227 rs868718243 |
383 | G>V | No |
ClinGen TOPMed |
|
|
CA339263224 rs1262899846 |
384 | Q>* | No |
ClinGen gnomAD |
|
|
rs142456291 CA692845 |
388 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339263178 rs1322383041 |
390 | A>G | No |
ClinGen gnomAD |
|
|
rs376273317 CA692842 |
391 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA692840 rs774979915 |
392 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA339263167 rs774979915 |
392 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA339263170 rs1317404916 |
392 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339263152 rs1404279918 |
394 | H>R | No |
ClinGen gnomAD |
|
|
rs1338778460 CA339263144 |
395 | S>N | No |
ClinGen gnomAD |
|
|
CA339263116 rs1428817440 |
399 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1428817440 CA339263118 |
399 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339263110 rs1476523757 |
400 | A>V | No |
ClinGen gnomAD |
|
|
CA339263098 rs145354992 |
402 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339263091 rs1192925649 |
403 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1258949457 CA339263085 |
404 | P>L | No |
ClinGen gnomAD |
|
|
CA339263077 rs866270424 |
406 | R>C | No |
ClinGen TOPMed |
|
|
CA19551194 rs754344195 |
406 | R>H | No |
ClinGen gnomAD |
|
|
CA19551195 rs866270424 |
406 | R>S | No |
ClinGen TOPMed |
|
|
CA692835 rs747787589 |
407 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1339675309 CA339263044 |
411 | V>M | No |
ClinGen gnomAD |
|
|
rs754460038 CA692833 |
413 | R>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q13761
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| core-binding factor complex | A heterodimeric transcription factor complex that contains an alpha subunit (Runx1, Runx2 or Runx3 in human) that binds DNA and a non-DNA-binding beta subunit (CBFbeta), and binds to a consensus sequence 5'-YGYGGTY-3' found in several enhancers and promoters; the beta subunit enhances the DNA binding of the alpha subunit. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| 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. |
| 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. |
| 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. |
| transcription corepressor binding | Binding to a transcription corepressor, a protein involved in negative regulation of transcription via protein-protein interactions with transcription factors and other proteins that negatively regulate transcription. Transcription corepressors do not bind DNA directly, but rather mediate protein-protein interactions between repressing transcription factors and the basal transcription machinery. |
16 GO annotations of biological process
| Name | Definition |
|---|---|
| chondrocyte differentiation | The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte. A chondrocyte is a polymorphic cell that forms cartilage. |
| hemopoiesis | The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
| negative regulation of CD4-positive, alpha-beta T cell differentiation | Any process that stops, prevents, or reduces the frequency, rate, or extent of CD4-positive, alpha-beta T cell differentiation. |
| negative regulation of cell cycle | Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. |
| negative regulation of epithelial cell proliferation | Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. |
| 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. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| peripheral nervous system neuron development | The process whose specific outcome is the progression of a neuron whose cell body is located in the peripheral nervous system, from initial commitment of the cell to a neuronal fate, to the fully functional differentiated neuron. |
| positive regulation of CD8-positive, alpha-beta T cell differentiation | Any process that activates or increases the frequency, rate or extent of CD8-positive, alpha-beta T cell differentiation. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of cell differentiation | Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. |
| 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. |
| response to transforming growth factor beta | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q13950 | RUNX2 | Runt-related transcription factor 2 | Homo sapiens (Human) | PR |
| Q01196 | RUNX1 | Runt-related transcription factor 1 | Homo sapiens (Human) | PR |
| Q03347 | Runx1 | Runt-related transcription factor 1 | Mus musculus (Mouse) | PR |
| Q08775 | Runx2 | Runt-related transcription factor 2 | Mus musculus (Mouse) | PR |
| Q63046 | Runx1 | Runt-related transcription factor 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRIPVDPSTS | RRFTPPSPAF | PCGGGGGKMG | ENSGALSAQA | AVGPGGRARP | EVRSMVDVLA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DHAGELVRTD | SPNFLCSVLP | SHWRCNKTLP | VAFKVVALGD | VPDGTVVTVM | AGNDENYSAE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRNASAVMKN | QVARFNDLRF | VGRSGRGKSF | TLTITVFTNP | TQVATYHRAI | KVTVDGPREP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RRHRQKLEDQ | TKPFPDRFGD | LERLRMRVTP | STPSPRGSLS | TTSHFSSQPQ | TPIQGTSELN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PFSDPRQFDR | SFPTLPTLTE | SRFPDPRMHY | PGAMSAAFPY | SATPSGTSIS | SLSVAGMPAT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SRFHHTYLPP | PYPGAPQNQS | GPFQANPSPY | HLYYGTSSGS | YQFSMVAGSS | SGGDRSPTRM |
| 370 | 380 | 390 | 400 | 410 | |
| LASCTSSAAS | VAAGNLMNPS | LGGQSDGVEA | DGSHSNSPTA | LSTPGRMDEA | VWRPY |