P50549
EV
Gene name |
ETV1 (ER81) |
Protein name |
ETS translocation variant 1 |
Names |
Ets-related protein 81 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2115 |
EC number |
|
Protein Class |
|
Descriptions
ETV1 is a member of the ETS transcription factors, often overexpressed in prostate cancer. ETV1 has regions N- and C-terminal to the ETS domain that cooperate to inhibit DNA binding, involving structured and disordered regions. The C-terminal inhibitory domain (CID) includes an α-helix that perturbs the DNA-recognition helix, while the N-terminal inhibitory domain (NID) is intrinsically disordered and mediates autoinhibition through transient interactions. The activity of ETV1 can be alleviated by acetylation of lysine residues within NID.
Autoinhibitory domains (AIDs)
Target domain |
334-419 (ETS domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Deletion assay, Mutagenesis experiment, Split protein assay |
Target domain |
334-419 (ETS domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Deletion assay, Mutagenesis experiment, Split protein assay |
Accessory elements
No accessory elements
References
Autoinhibited structure
Activated structure
4 structures for P50549
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4AVP | X-ray | 182 A | A/B/C/D | 326-429 | PDB |
| 4BNC | X-ray | 290 A | A | 326-429 | PDB |
| 5ILS | X-ray | 140 A | A | 334-434 | PDB |
| AF-P50549-F1 | Predicted | AlphaFoldDB |
387 variants for P50549
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4167300 rs777428309 |
4 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs777428309 CA366872172 |
4 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366872095 rs1218883502 |
8 | Q>R | No |
ClinGen gnomAD |
|
|
rs1351415009 CA366872081 |
9 | V>A | No |
ClinGen gnomAD |
|
|
rs753008700 CA4167298 |
12 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs757988982 CA4167299 |
12 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376879279 CA366872030 |
13 | V>F | No |
ClinGen gnomAD |
|
|
CA366871996 rs373945413 |
15 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 15 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366871131 rs1453046202 |
16 | S>G | No |
ClinGen gnomAD |
|
|
CA4167236 rs555395802 |
18 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1338879591 CA366871071 |
18 | R>H | No |
ClinGen gnomAD |
|
|
rs776051542 CA4167234 |
19 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4167235 rs535092479 |
19 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4167233 rs770257114 |
20 | R>T | No |
ClinGen ExAC |
|
|
CA154005984 rs367998229 |
24 | E>Q | No |
ClinGen ESP |
|
|
rs781735914 CA4167231 |
25 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4167229 rs747119926 |
26 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747119926 CA4167230 |
26 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777711910 CA4167228 |
28 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752895151 CA4167226 |
29 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA4167223 rs750167942 |
32 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs374496805 CA4167222 |
37 | R>S | No |
ClinGen ESP ExAC |
|
|
CA4167221 rs761586548 |
38 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972620421 CA154005924 |
38 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 38 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397294224 CA366870629 |
40 | A>G | No |
ClinGen TOPMed |
|
|
CA154005904 rs939052748 |
40 | A>S | No |
ClinGen TOPMed |
|
|
rs1334696169 CA366870615 |
41 | H>Q | No |
ClinGen TOPMed |
|
|
rs771177778 CA4167193 |
45 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs773621570 CA4167191 |
49 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772517181 CA4167190 |
52 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA154004883 rs945739812 |
52 | Q>R | No |
ClinGen Ensembl |
|
|
rs748240043 CA4167189 |
56 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA366870286 rs1265128802 |
57 | W>* | No |
ClinGen gnomAD |
|
|
rs768930207 CA4167187 |
57 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1209187179 CA366870275 |
58 | L>F | No |
ClinGen gnomAD |
|
|
CA4167141 rs376325638 |
62 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1283182375 CA366865826 |
64 | P>H | No |
ClinGen gnomAD |
|
|
CA366865830 rs1377461633 |
64 | P>T | No |
ClinGen gnomAD |
|
|
rs1295869839 CA366865803 |
65 | D>E | No |
ClinGen gnomAD |
|
|
CA366865817 rs1341827936 |
65 | D>N | No |
ClinGen gnomAD |
|
|
CA366865757 rs1399298408 |
68 | E>K | No |
ClinGen gnomAD |
|
|
CA366865730 rs1193052352 |
69 | Q>* | No |
ClinGen TOPMed |
|
|
CA366865693 rs1403337828 |
71 | V>L | No |
ClinGen gnomAD |
|
|
rs1412813233 CA366865663 |
73 | D>H | No |
ClinGen gnomAD |
|
|
CA4167139 rs768811949 |
74 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs985561471 CA153998256 |
74 | Y>N | No |
ClinGen TOPMed |
|
|
rs1435454184 CA366865579 |
77 | E>K | No |
ClinGen TOPMed |
|
|
CA366873912 rs1487823864 |
79 | L>F | No |
ClinGen gnomAD |
|
|
CA366873903 rs1247959899 |
80 | A>G | No |
ClinGen TOPMed |
|
|
CA366873907 rs1246463552 |
80 | A>S | No |
ClinGen gnomAD |
|
|
CA366873901 rs1247959899 |
80 | A>V | No |
ClinGen TOPMed |
|
|
CA366873887 rs1288719773 |
81 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4167120 rs749235215 |
81 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1583710223 CA366873874 |
83 | G>A | No |
ClinGen Ensembl |
|
|
CA366873864 rs1217388375 |
85 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1302857335 CA366873865 |
85 | P>S | No |
ClinGen gnomAD |
|
|
rs1280099827 CA366873837 |
89 | K>R | No |
ClinGen gnomAD |
|
|
CA4167114 rs769910514 |
96 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4167113 rs371614424 |
97 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359804481 CA366873777 |
98 | E>K | No |
ClinGen gnomAD |
|
|
CA4167112 rs758881224 |
99 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4167110 rs9639168 |
100 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4167109 rs9639168 VAR_048948 |
100 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366873758 rs1442372291 |
100 | S>R | No |
ClinGen TOPMed |
|
|
rs1562649064 CA366873734 |
104 | S>T | No |
ClinGen Ensembl |
|
|
rs753912647 CA4167108 |
105 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA366873724 rs1197619453 |
105 | Q>H | No |
ClinGen gnomAD |
|
|
rs1257214692 CA366873719 |
106 | E>G | No |
ClinGen gnomAD |
|
|
rs936225135 CA154019187 |
106 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1583709631 CA366873711 |
107 | Q>R | No |
ClinGen Ensembl |
|
|
rs1374621781 CA366873702 |
108 | P>H | No |
ClinGen TOPMed |
|
|
CA154019175 rs943501720 |
109 | F>L | No |
ClinGen Ensembl |
|
|
rs1284796770 CA366873700 |
109 | F>L | No |
ClinGen gnomAD |
|
|
rs774071237 CA4167105 |
111 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308339889 CA366873678 |
112 | S>G | No |
ClinGen gnomAD |
|
|
CA366873676 rs1446300469 |
112 | S>T | No |
ClinGen gnomAD |
|
|
COSM1134279 COSM452453 rs762835509 CA4167103 |
114 | G>A | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4167104 rs768475054 |
114 | G>R | No |
ClinGen ExAC gnomAD |
|
|
COSM3942071 CA4167102 rs775525239 COSM3942070 |
116 | K>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1131845 CA366873640 |
117 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1131845 CA4167101 |
117 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs780679319 CA4167099 |
118 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1424792522 CA366873629 |
119 | Y>* | No |
ClinGen gnomAD |
|
|
CA4167098 rs368739038 |
119 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288074041 CA366873632 |
119 | Y>H | No |
ClinGen TOPMed |
|
|
rs368739038 CA154019134 |
119 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4167097 rs746647484 |
120 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779138336 CA4167076 |
123 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755598582 CA4167075 |
124 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA154015755 rs1035510272 |
125 | D>G | No |
ClinGen TOPMed |
|
|
rs780320230 CA4167073 |
125 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1405710659 CA366873068 |
127 | K>R | No |
ClinGen gnomAD |
|
|
rs867637434 CA154015733 |
130 | V>M | No |
ClinGen Ensembl |
|
|
CA154015725 rs1003578447 |
131 | G>E | No |
ClinGen TOPMed |
|
|
rs1292201648 CA366873029 |
133 | R>T | No |
ClinGen gnomAD |
|
|
CA4167070 rs767789988 |
134 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA366872987 rs1488719060 |
136 | N>K | No |
ClinGen gnomAD |
|
|
CA4167069 rs757351742 |
136 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA366873004 rs757351742 |
136 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA4167067 rs779956322 |
137 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779956322 CA4167068 |
137 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776585267 CA4167065 |
138 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA366872951 rs776585267 |
138 | P>R | No |
ClinGen ExAC gnomAD |
|
| rs769886672 | 139 | T>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771826241 CA4167060 |
139 | T>K | No |
ClinGen ExAC TOPMed |
|
|
rs80157564 CA4167058 |
143 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA366872868 rs1489078903 |
144 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769109922 CA4167056 |
145 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1356892841 CA366872866 |
145 | V>L | No |
ClinGen TOPMed |
|
|
rs1356892841 CA366872867 |
145 | V>M | No |
ClinGen TOPMed |
|
|
CA154015643 rs531167169 |
148 | L>M | No |
ClinGen 1000Genomes |
|
|
CA4167055 rs749626646 |
149 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366872797 rs1234581450 |
150 | H>N | No |
ClinGen gnomAD |
|
|
rs1562643963 CA366872762 |
151 | A>E | No |
ClinGen Ensembl |
|
|
rs370603971 CA4167053 |
154 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4167052 rs745962107 |
156 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA366872693 rs1401494582 |
159 | P>L | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751704054 CA4167049 |
160 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4167048 rs764264160 |
161 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398904507 CA366872683 |
161 | P>S | No |
ClinGen gnomAD |
|
|
rs1398904507 CA366872685 |
161 | P>T | No |
ClinGen gnomAD |
|
|
rs186330943 CA4167046 |
163 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376556632 CA4167047 |
163 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766310266 CA4167045 |
164 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1257458642 CA366872668 |
164 | A>T | No |
ClinGen TOPMed |
|
|
CA4167043 rs772835188 |
167 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 167 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760526649 CA4167044 |
167 | A>T | No |
ClinGen ExAC TOPMed |
|
|
rs1583696319 CA366872611 |
168 | H>P | No |
ClinGen Ensembl |
|
|
CA154015563 rs1035537936 |
169 | L>F | No |
ClinGen Ensembl |
|
|
rs1583696273 CA366872581 |
170 | P>T | No |
ClinGen Ensembl |
|
|
rs761565850 CA4167041 |
172 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366872524 rs1220309725 |
173 | Q>H | No |
ClinGen gnomAD |
|
|
CA366872492 rs1201072184 |
175 | I>T | No |
ClinGen gnomAD |
|
|
CA366872501 rs1367391521 |
175 | I>V | No |
ClinGen gnomAD |
|
|
CA4167039 rs370813002 |
176 | P>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA154015527 rs1040534574 |
176 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366872460 rs1311705778 |
177 | D>V | No |
ClinGen TOPMed |
|
|
rs770397289 CA4167036 |
180 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4167035 rs373406059 |
182 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334842844 CA366872356 |
183 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 184 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4167012 COSM1596792 rs748346103 COSM260728 |
187 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4167011 COSM181336 rs779937870 |
187 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755892534 CA4167010 |
188 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA366871330 rs755892534 |
188 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA154011751 rs568607536 |
188 | R>H | No |
ClinGen 1000Genomes TOPMed |
|
|
rs568607536 CA366871328 |
188 | R>L | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 189 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229655088 CA366871319 |
190 | L>I | No |
ClinGen gnomAD |
|
|
rs1229655088 CA366871318 |
190 | L>V | No |
ClinGen gnomAD |
|
|
CA366871300 rs1178112843 |
192 | E>D | No |
ClinGen TOPMed |
|
|
CA366871295 rs1312149572 |
193 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM3942068 CA366871274 rs1301021932 COSM3942069 |
196 | S>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs781001175 CA4167008 |
198 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs750183378 CA4167009 |
198 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296192613 CA366871244 |
199 | P>H | No |
ClinGen gnomAD |
|
|
rs1296192613 CA366871242 |
199 | P>R | No |
ClinGen gnomAD |
|
|
CA4167006 rs751178726 |
201 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1086183 COSM1596793 rs752431857 CA4167003 |
202 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4167001 rs759831524 |
203 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4167000 rs776991837 |
204 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758115478 CA154011705 |
204 | P>R | No |
ClinGen Ensembl |
|
|
CA366871185 rs776991837 |
204 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366871154 rs1425958431 |
206 | E>V | No |
ClinGen gnomAD |
|
|
rs771410991 CA4166999 |
208 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771410991 CA366871119 |
208 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA154011697 COSM1448524 COSM1448523 rs959752124 |
208 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 209 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs928308446 CA154011695 |
209 | P>T | No |
ClinGen Ensembl |
|
|
CA366871073 rs1187578622 |
210 | M>R | No |
ClinGen TOPMed |
|
|
CA4166998 rs368628777 |
210 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4166997 rs563398201 |
211 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772105404 COSM280879 CA4166996 |
213 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4166995 rs748182764 |
213 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772105404 CA366871018 |
213 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1413426753 CA366870899 |
217 | E>D | No |
ClinGen TOPMed |
|
|
rs1213895329 CA366870881 |
218 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1213895329 CA366870883 |
218 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs971724465 CA154011670 |
218 | P>S | No |
ClinGen TOPMed |
|
|
CA4166992 rs745655098 |
219 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 219 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276574918 CA366870850 |
220 | I>F | No |
ClinGen gnomAD |
|
|
rs1159395009 CA366870821 |
221 | P>L | No |
ClinGen Ensembl |
|
|
CA4166991 rs781034658 |
221 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4166989 rs746914419 |
224 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA366870692 rs1303518990 |
229 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA366870676 rs1168478482 |
230 | E>* | No |
ClinGen gnomAD |
|
|
rs370376322 CA154011619 |
230 | E>D | No |
ClinGen ESP |
|
|
rs577222571 CA154011615 |
232 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4166987 rs758005694 |
233 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs752193835 CA4166986 |
234 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA154011589 rs752193835 |
234 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4166985 rs764806499 |
236 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252832989 CA366870601 |
236 | Y>N | No |
ClinGen gnomAD |
|
|
CA4166984 rs754658233 |
237 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1405263724 CA366870572 |
238 | H>D | No |
ClinGen gnomAD |
|
|
rs766745552 CA4166982 |
238 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4166983 rs754217454 |
238 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs761207813 CA4166981 |
239 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4166980 rs773736818 |
239 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767959199 CA4166979 |
240 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749510540 CA4166975 |
241 | M>I | No |
ClinGen ExAC |
|
|
rs768827110 CA4166977 |
241 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768827110 CA4166976 |
241 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA154011558 rs1028802115 |
241 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776337760 CA4166974 |
242 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs977319524 CA154011538 |
243 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1296693133 CA366870531 |
243 | G>V | No |
ClinGen gnomAD |
|
|
rs180893787 CA366870526 |
244 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs180893787 CA4166973 |
244 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4166972 rs777866452 |
245 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA4166971 COSM1596794 rs777866452 COSM1086182 |
245 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1241848276 CA366870515 |
246 | A>G | No |
ClinGen gnomAD |
|
|
CA4166968 rs778475905 |
247 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159668213 CA366870509 |
247 | S>N | No |
ClinGen gnomAD |
|
|
rs759316974 CA4166967 |
247 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756490851 CA4166965 CA4166964 |
249 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4166966 rs753499919 |
249 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4166963 rs750724962 |
250 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 251 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA154011488 rs904139873 |
251 | P>S | No |
ClinGen Ensembl |
|
|
CA366870478 rs1251079501 |
252 | P>L | No |
ClinGen gnomAD |
|
|
CA4166962 rs768012173 |
252 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208611662 CA366870476 |
253 | P>A | No |
ClinGen gnomAD |
|
|
rs1291952347 CA366870461 |
255 | M>L | No |
ClinGen TOPMed |
|
|
CA366870455 rs1375655486 |
255 | M>R | No |
ClinGen TOPMed |
|
|
CA4166959 rs774351239 |
258 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4166957 rs762903267 |
260 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1562636289 CA366870336 |
263 | F>L | No |
ClinGen Ensembl |
|
|
CA366870343 rs1379964139 |
263 | F>S | No |
ClinGen gnomAD |
|
|
rs770085059 CA4166955 |
264 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4166954 rs746805857 |
265 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248799839 CA366870293 |
266 | D>G | No |
ClinGen TOPMed |
|
|
CA4166952 rs541367225 |
267 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 268 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs987675030 CA153992819 |
269 | V>M | No |
ClinGen Ensembl |
|
|
CA4166916 rs766460224 |
271 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1583596404 CA366863959 |
271 | S>T | No |
ClinGen Ensembl |
|
|
rs1443548846 CA366863924 |
273 | H>R | No |
ClinGen gnomAD |
|
|
CA4166915 rs761678364 |
273 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs773946563 CA4166914 |
274 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA366863890 rs1240725621 |
277 | M>I | No |
ClinGen gnomAD |
|
|
rs775029555 CA4166911 |
279 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA366863866 rs1562600592 |
280 | E>D | No |
ClinGen Ensembl |
|
|
rs769261497 CA366863861 |
281 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769261497 CA4166910 |
281 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 282 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776280186 CA4166909 |
283 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs776280186 CA4166908 |
283 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1187405618 CA366863849 |
284 | A>T | No |
ClinGen TOPMed |
|
|
rs777988147 CA4166905 |
285 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs747474762 CA4166906 |
285 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1458591065 CA366863832 |
286 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 286 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366863830 rs1430368948 |
287 | S>G | No |
ClinGen TOPMed |
|
|
CA4166903 rs779524119 CA4166902 |
287 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs372865361 CA4166904 |
287 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA153992733 rs369547662 |
289 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs892838838 CA153992723 |
289 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs369547662 CA153992731 |
289 | T>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA366863814 rs1389115367 |
290 | E>K | No |
ClinGen gnomAD |
|
|
rs1477141221 CA366863299 |
292 | C>S | No |
ClinGen TOPMed |
|
|
rs756408088 CA4166881 |
293 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs74772438 CA153991506 |
295 | E>* | No |
ClinGen Ensembl |
|
|
rs750579850 CA4166880 |
295 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366863209 rs1562598110 |
297 | G>V | No |
ClinGen Ensembl |
|
| TCGA novel | 297 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758211416 CA4166878 |
302 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153991488 rs896651598 |
305 | T>N | No |
ClinGen TOPMed |
|
|
rs765227604 CA366862974 |
312 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349555738 COSM275010 CA366862968 |
313 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA366862955 rs1406293329 |
313 | D>V | No |
ClinGen TOPMed |
|
|
CA366862964 rs1349555738 |
313 | D>Y | No |
ClinGen gnomAD |
|
|
CA366861420 rs1224599336 |
315 | D>H | No |
ClinGen gnomAD |
|
|
rs775881552 CA4166847 |
318 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536351715 CA4166845 |
320 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366861283 rs1376539902 |
322 | M>I | No |
ClinGen gnomAD |
|
|
rs982098606 CA153988751 |
322 | M>T | No |
ClinGen TOPMed |
|
|
CA4166844 rs781237791 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366861252 rs1433178930 |
324 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs971605664 CA153988729 |
326 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4166843 rs771191756 |
326 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA366861199 rs1299587625 |
327 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1405125094 CA366861180 |
329 | Y>N | No |
ClinGen gnomAD |
|
|
CA366861134 rs1419836219 |
331 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA366861142 rs1176085263 |
331 | R>W | No |
ClinGen gnomAD |
|
|
CA366861131 rs1259444979 |
332 | R>Q | Variant assessed as Somatic; 4.659e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA153988718 rs573599843 |
333 | G>R | No |
ClinGen gnomAD |
|
|
rs1485213898 CA366861108 |
336 | Q>P | No |
ClinGen gnomAD |
|
|
rs1216726802 CA366861088 |
339 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237814069 CA366861065 |
342 | V>I | No |
ClinGen TOPMed |
|
|
CA4166841 rs777934934 |
343 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA366861055 rs777934934 |
343 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1356187071 CA366861039 |
346 | D>G | No |
ClinGen gnomAD |
|
|
CA153988667 rs28565271 |
347 | D>A | No |
ClinGen Ensembl |
|
|
CA366861004 rs1413540602 |
348 | P>L | No |
ClinGen gnomAD |
|
|
CA4166839 rs753613347 |
348 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA366860940 rs1375201232 |
352 | H>L | No |
ClinGen gnomAD |
|
|
rs567326719 CA4166837 |
355 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567326719 CA4166838 |
355 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366860878 rs1426366330 |
355 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 356 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749957333 CA4166836 |
357 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs767110553 CA4166835 |
358 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA366860834 COSM1596797 rs1419462186 COSM1086160 |
359 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA366860832 rs1185683021 |
359 | R>Q | No |
ClinGen gnomAD |
|
|
rs757006753 CA4166834 |
361 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1262376457 CA366860799 |
362 | E>Q | No |
ClinGen gnomAD |
|
|
rs1157380856 CA366860738 |
365 | L>P | No |
ClinGen gnomAD |
|
|
CA366860728 rs1479276970 |
366 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA366860711 rs372949158 |
367 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751054044 CA4166811 |
371 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4166810 rs763657436 |
372 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA4166809 rs758057612 |
374 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4166808 rs753053339 |
374 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272210222 CA366860154 |
377 | I>F | No |
ClinGen TOPMed |
|
|
rs1272210222 CA366860155 |
377 | I>V | No |
ClinGen TOPMed |
|
|
CA366860046 rs1274578649 |
391 | R>H | No |
ClinGen gnomAD |
|
|
CA366860042 rs1235404016 |
392 | S>* | No |
ClinGen gnomAD |
|
|
rs1007679355 CA153983459 |
394 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs773278653 CA4166802 |
394 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1562584261 CA366859999 |
398 | E>D | No |
ClinGen Ensembl |
|
|
CA366859986 rs1313425487 |
400 | G>E | No |
ClinGen gnomAD |
|
|
CA366859981 rs1373470302 |
401 | I>F | No |
ClinGen gnomAD |
|
|
CA4166798 rs373175151 |
402 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477845764 CA366859963 |
403 | Q>R | No |
ClinGen gnomAD |
|
|
rs1412188275 CA366858283 |
414 | F>S | No |
ClinGen gnomAD |
|
|
rs1583541678 CA366858236 |
421 | L>V | No |
ClinGen Ensembl |
|
|
rs1378164598 CA366858204 |
425 | A>D | No |
ClinGen TOPMed |
|
|
CA4166771 rs778635083 |
427 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1477637846 CA366858184 |
428 | D>E | No |
ClinGen TOPMed |
|
|
CA4166770 rs754625693 |
428 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4166769 rs369611703 |
429 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780370745 CA4166768 |
430 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4166767 rs756650303 |
431 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4166766 rs750968701 |
434 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1341179503 CA366858139 |
435 | K>Q | No |
ClinGen gnomAD |
|
|
CA153978636 rs912799058 |
438 | M>T | No |
ClinGen Ensembl |
|
|
rs761964463 CA4166764 |
438 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA366858058 rs1426228965 |
439 | E>G | No |
ClinGen gnomAD |
|
|
CA4166763 rs751525538 |
440 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1326846768 CA366858043 |
440 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1323464032 CA366858009 |
442 | I>S | No |
ClinGen gnomAD |
|
|
rs1348279586 CA366858019 |
442 | I>V | No |
ClinGen gnomAD |
|
|
rs776609162 CA4166760 |
444 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs946189887 CA16040342 |
450 | L>V | No |
ClinGen TOPMed |
|
|
rs1475197955 CA366857886 |
452 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4166757 rs773216548 |
454 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs770880512 CA366857877 |
454 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4166759 rs770880512 |
454 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771840153 CA4166756 |
455 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA366857773 rs1233150264 |
458 | A>S | No |
ClinGen TOPMed |
|
|
rs1466736141 CA366857760 |
459 | Y>D | No |
ClinGen gnomAD |
|
|
rs980097190 CA153978552 |
460 | M>I | No |
ClinGen TOPMed |
|
|
CA153978561 rs575326937 |
460 | M>K | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4166755 rs747764806 |
460 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA153978545 rs778277062 |
461 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763469375 CA4166752 |
461 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4166753 rs778277062 |
461 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153978527 rs980825182 |
463 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA366857613 rs748904227 |
463 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4166749 rs748904227 |
463 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4166748 rs779639875 |
464 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs746160068 CA4166746 |
466 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781723736 CA4166745 |
466 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1202950122 CA366857502 |
468 | P>L | No |
ClinGen gnomAD |
|
|
CA4166743 rs370168921 |
469 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA153978436 rs560856535 |
469 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 469 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370168921 CA4166742 |
469 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175100756 COSM3721680 CA366857431 COSM3721679 |
472 | N>S | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM222117 rs536563766 CA4166740 |
473 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA366857383 rs1177230962 |
474 | G>C | No |
ClinGen gnomAD |
|
|
CA366857394 rs1177230962 |
474 | G>S | No |
ClinGen gnomAD |
|
|
rs567417512 CA4166738 COSM3381824 COSM3381823 |
475 | Y>C | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA4166739 rs765499460 |
475 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1404339912 CA366857298 |
476 | V>G | No |
ClinGen TOPMed |
|
|
rs767552829 CA4166736 |
476 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767552829 COSM1251539 COSM1251540 CA16040343 |
476 | V>M | ovary oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA366857266 rs1213250048 |
477 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs746999865 CA153978369 |
477 | Y>C | No |
ClinGen Ensembl |
1 associated diseases with P50549
[MIM: 612219]: Ewing sarcoma (ES)
A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. . Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV1 is found in patients with Ewing sarcoma. Translocation t(7;22)(p22;q12) with EWSR1. .
Without disease ID
- A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. . Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV1 is found in patients with Ewing sarcoma. Translocation t(7;22)(p22;q12) with EWSR1. .
9 regional properties for P50549
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 288 - 539 | IPR000719 |
| domain | SH2 domain | 171 - 263 | IPR000980 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 288 - 538 | IPR001245 |
| domain | SH3 domain | 107 - 167 | IPR001452 |
| active_site | Tyrosine-protein kinase, active site | 405 - 417 | IPR008266 |
| domain | F-actin binding | 1061 - 1182 | IPR015015 |
| binding_site | Protein kinase, ATP binding site | 294 - 317 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 288 - 539 | IPR020635 |
| domain | Tyrosine-protein kinase ABL, SH2 domain | 169 - 262 | IPR035837 |
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. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| 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 | 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. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| mechanosensory behavior | Behavior that is dependent upon the sensation of a mechanical stimulus. |
| muscle organ development | The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. |
| 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 transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
40 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A1A4L6 | ETS2 | Protein C-ets-2 | Bos taurus (Bovine) | SS |
| Q2KIC2 | ETV1 | ETS translocation variant 1 | Bos taurus (Bovine) | SS |
| P15062 | ETS1 | Transforming protein p68/c-ets-1 | Gallus gallus (Chicken) | SS |
| P10157 | ETS2 | Protein C-ets-2 | Gallus gallus (Chicken) | SS |
| Q90837 | ERG | Transcriptional regulator Erg | Gallus gallus (Chicken) | SS |
| A2T762 | ETV3 | ETS translocation variant 3 | Pan troglodytes (Chimpanzee) | PR |
| Q04688 | Ets97D | DNA-binding protein Ets97D | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y603 | ETV7 | Transcription factor ETV7 | Homo sapiens (Human) | SS |
| P41212 | ETV6 | Transcription factor ETV6 | Homo sapiens (Human) | SS |
| P78545 | ELF3 | ETS-related transcription factor Elf-3 | Homo sapiens (Human) | SS |
| Q9UKW6 | ELF5 | ETS-related transcription factor Elf-5 | Homo sapiens (Human) | EV |
| P32519 | ELF1 | ETS-related transcription factor Elf-1 | Homo sapiens (Human) | PR |
| Q99607 | ELF4 | ETS-related transcription factor Elf-4 | Homo sapiens (Human) | PR |
| Q06546 | GABPA | GA-binding protein alpha chain | Homo sapiens (Human) | SS |
| O95238 | SPDEF | SAM pointed domain-containing Ets transcription factor | Homo sapiens (Human) | PR |
| P50548 | ERF | ETS domain-containing transcription factor ERF | Homo sapiens (Human) | PR |
| P41162 | ETV3 | ETS translocation variant 3 | Homo sapiens (Human) | PR |
| P11308 | ERG | Transcriptional regulator ERG | Homo sapiens (Human) | EV |
| P43268 | ETV4 | ETS translocation variant 4 | Homo sapiens (Human) | EV |
| P41161 | ETV5 | ETS translocation variant 5 | Homo sapiens (Human) | SS |
| P41970 | ELK3 | ETS domain-containing protein Elk-3 | Homo sapiens (Human) | SS |
| P28324 | ELK4 | ETS domain-containing protein Elk-4 | Homo sapiens (Human) | EV |
| P19419 | ELK1 | ETS domain-containing protein Elk-1 | Homo sapiens (Human) | EV |
| P15036 | ETS2 | Protein C-ets-2 | Homo sapiens (Human) | EV |
| P14921 | ETS1 | Protein C-ets-1 | Homo sapiens (Human) | EV |
| P41971 | Elk3 | ETS domain-containing protein Elk-3 | Mus musculus (Mouse) | EV |
| Q00422 | Gabpa | GA-binding protein alpha chain | Mus musculus (Mouse) | EV |
| P41969 | Elk1 | ETS domain-containing protein Elk-1 | Mus musculus (Mouse) | PR |
| P28322 | Etv4 | ETS translocation variant 4 | Mus musculus (Mouse) | SS |
| P15037 | Ets2 | Protein C-ets-2 | Mus musculus (Mouse) | SS |
| P27577 | Ets1 | Protein C-ets-1 | Mus musculus (Mouse) | EV |
| P70459 | Erf | ETS domain-containing transcription factor ERF | Mus musculus (Mouse) | PR |
| Q9CXC9 | Etv5 | ETS translocation variant 5 | Mus musculus (Mouse) | SS |
| P41158 | Elk4 | ETS domain-containing protein Elk-4 | Mus musculus (Mouse) | PR |
| P81270 | Erg | Transcriptional regulator ERG | Mus musculus (Mouse) | SS |
| P41164 | Etv1 | ETS translocation variant 1 | Mus musculus (Mouse) | SS |
| P41156 | Ets1 | Protein C-ets-1 | Rattus norvegicus (Rat) | SS |
| A4GTP4 | Elk1 | ETS domain-containing protein Elk-1 | Rattus norvegicus (Rat) | PR |
| Q9PUQ1 | etv4 | ETS translocation variant 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A3FEM2 | fev | Protein FEV | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDGFYDQQVP | YMVTNSQRGR | NCNEKPTNVR | KRKFINRDLA | HDSEELFQDL | SQLQETWLAE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQVPDNDEQF | VPDYQAESLA | FHGLPLKIKK | EPHSPCSEIS | SACSQEQPFK | FSYGEKCLYN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSAYDQKPQV | GMRPSNPPTP | SSTPVSPLHH | ASPNSTHTPK | PDRAFPAHLP | PSQSIPDSSY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PMDHRFRRQL | SEPCNSFPPL | PTMPREGRPM | YQRQMSEPNI | PFPPQGFKQE | YHDPVYEHNT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MVGSAASQSF | PPPLMIKQEP | RDFAYDSEVP | SCHSIYMRQE | GFLAHPSRTE | GCMFEKGPRQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FYDDTCVVPE | KFDGDIKQEP | GMYREGPTYQ | RRGSLQLWQF | LVALLDDPSN | SHFIAWTGRG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MEFKLIEPEE | VARRWGIQKN | RPAMNYDKLS | RSLRYYYEKG | IMQKVAGERY | VYKFVCDPEA |
| 430 | 440 | 450 | 460 | 470 | |
| LFSMAFPDNQ | RPLLKTDMER | HINEEDTVPL | SHFDESMAYM | PEGGCCNPHP | YNEGYVY |