P41212
SS
Gene name |
ETV6 (TEL, TEL1) |
Protein name |
Transcription factor ETV6 |
Names |
ETS translocation variant 6 , ETS-related protein Tel1 , Tel |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2120 |
EC number |
|
Protein Class |
|
Descriptions
Etv6 is a transcriptional repressor containing a PNT domain and plays roles in normal cellular processes as well as a variety of human malignancies. The C-terminal inhibitory domain (CID) attenuates the binding of Etv6 by 10-fold, which is achieved by an α-helix H5 in the CID that blocks the DNA binding surface of Etv6. Interestingly, the LID (linker inhibitory damper) of Etv6 interferes with the autoinhibition by CID.
Autoinhibitory domains (AIDs)
Target domain |
340-420 (ETS domain) |
Relief mechanism |
Partner binding, Others |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Green SM et al. (2010) "DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association", The Journal of biological chemistry, 285, 18496-504
- Coyne HJ 3rd et al. (2012) "Autoinhibition of ETV6 (TEL) DNA binding: appended helices sterically block the ETS domain", Journal of molecular biology, 421, 67-84
Autoinhibited structure
Activated structure
28 structures for P41212
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1JI7 | X-ray | 145 A | A/B/C | 47-123 | PDB |
| 1LKY | X-ray | 230 A | A/B/C/D/E/F | 47-123 | PDB |
| 2DAO | NMR | - | A | 338-442 | PDB |
| 2QAR | X-ray | 240 A | A/B/D/E | 47-124 | PDB |
| 2QB0 | X-ray | 256 A | A/C | 47-123 | PDB |
| 2QB1 | X-ray | 261 A | A/B | 47-121 | PDB |
| 5L0P | X-ray | 230 A | A | 47-356 | PDB |
| 7JU2 | X-ray | 185 A | A/B | 43-125 | PDB |
| 7N1O | X-ray | 277 A | A | 46-125 | PDB |
| 7N2B | X-ray | 322 A | PDB | ||
| 7T8J | X-ray | 189 A | A | 47-121 | PDB |
| 7TDY | X-ray | 153 A | A | 47-120 | PDB |
| 7TW7 | X-ray | 162 A | A | 47-123 | PDB |
| 7TW8 | X-ray | 155 A | A | 47-123 | PDB |
| 7TW9 | X-ray | 141 A | A | 47-123 | PDB |
| 7U4W | X-ray | 210 A | A | 47-121 | PDB |
| 7U4Z | X-ray | 203 A | A | 47-121 | PDB |
| 8BWU | X-ray | 236 A | A | 47-123 | PDB |
| 8E1F | X-ray | 216 A | A/B/C/D | 47-124 | PDB |
| 8FRJ | X-ray | 157 A | A | 47-123 | PDB |
| 8FRK | X-ray | 161 A | A | 47-123 | PDB |
| 8FT6 | X-ray | 262 A | A | 47-124 | PDB |
| 8FT8 | X-ray | 160 A | A | 47-124 | PDB |
| 8FZ3 | X-ray | 278 A | A/B/C/D | 47-123 | PDB |
| 8FZU | X-ray | 190 A | A/B/C | 47-111 | PDB |
| 8FZV | X-ray | 329 A | A/B/C | 47-111 | PDB |
| 8THA | X-ray | 168 A | A | 47-124 | PDB |
| AF-P41212-F1 | Predicted | AlphaFoldDB |
356 variants for P41212
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs121434637 CA280127 RCV000009547 |
76 | E>* | Acute myeloid leukemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6454227 RCV001572489 RCV001336416 RCV001820033 rs140357643 |
127 | R>Q | Thrombocytopenia 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1946587466 RCV001332071 |
136 | P>A | Thrombocytopenia 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA232607864 rs201820837 RCV002532829 RCV000623324 |
191 | R>Q | Variant assessed as Somatic; 4.621e-05 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000521755 rs200351280 CA6454298 RCV001554287 |
202 | R>Q | Thrombocytopenia 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555144911 RCV000502350 |
205 | L>missing | Thrombocytopenia 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs111871763 RCV002537925 CA6454309 RCV001281685 |
211 | R>H | Variant assessed as Somatic; 0.0 impact. Thrombocytopenia 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000157611 rs724159947 RCV001818340 COSM1205752 RCV001281572 CA175031 VAR_073322 RCV000149804 |
214 | P>L | large_intestine Variant assessed as Somatic; impact. Thrombocytopenia 5 Hematologic neoplasm Acute myeloid leukemia THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion [Cosmic, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000170465 RCV000170464 rs786205155 CA277990 |
349 | L>P | Acute lymphoid leukemia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_073323 RCV000157610 CA175028 rs724159946 RCV000149803 RCV003162607 |
369 | R>Q | Variant assessed as Somatic; impact. Hematologic neoplasm Thrombocytopenia 5 THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV002533971 COSM180943 rs1591749480 RCV002245645 RCV000851657 CA384044682 |
369 | R>W | large_intestine Thrombocytopenia 5 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs724159945 CA175025 RCV001824288 RCV000149802 RCV000157609 VAR_073324 |
399 | R>C | Variant assessed as Somatic; impact. Hematologic neoplasm Thrombocytopenia 5 THC5; abrogates DNA binding; alters subcellular location; decreases transcriptional repression in a dominant-negative fashion [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs786205226 RCV000170497 CA199659 COSM1318051 |
418 | R>G | Thrombocytopenia 5 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000009548 rs587776710 |
436 | H>QG | Acute myeloid leukemia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6453985 rs752535111 |
3 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs777712463 CA6453987 |
4 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6453986 rs758276152 |
4 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA384041931 rs1237008107 |
7 | Q>H | No |
ClinGen gnomAD |
|
|
CA384041925 rs1376185672 |
7 | Q>K | No |
ClinGen gnomAD |
|
|
CA232479199 rs921592943 |
8 | C>F | No |
ClinGen Ensembl |
|
|
rs768354458 CA232479202 |
9 | S>N | No |
ClinGen Ensembl |
|
|
rs372541278 CA6453988 |
9 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384041949 rs1425860852 |
10 | I>N | No |
ClinGen TOPMed |
|
|
CA384041947 rs1242574618 |
10 | I>V | No |
ClinGen Ensembl |
|
|
CA232479206 rs932279404 |
11 | K>E | No |
ClinGen Ensembl |
|
|
rs1475305922 CA384041452 |
14 | R>* | No |
ClinGen gnomAD |
|
|
rs781494988 CA6454097 |
14 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781494988 COSM935700 CA6454096 |
14 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA232546442 rs746119985 |
17 | Y>H | No |
ClinGen Ensembl |
|
|
CA6454098 rs754405842 |
18 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6454101 rs139212214 |
21 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384041522 rs139212214 |
21 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300012416 CA384041531 |
22 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA384041529 rs1300012416 |
22 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1424443413 CA384041569 |
24 | V>A | No |
ClinGen TOPMed |
|
|
CA6454104 rs550013624 |
25 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150858928 CA6454106 |
26 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763230765 CA6454109 |
28 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA384041626 rs34966596 |
28 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232546543 rs34966596 |
28 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs34966596 CA6454108 |
28 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764237239 CA6454110 |
30 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149994836 CA6454111 |
31 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384041699 RCV000520098 rs1555123823 |
33 | L>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6454115 rs756629283 |
33 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1437620013 CA384041708 |
34 | H>L | No |
ClinGen TOPMed |
|
|
rs767627393 CA232546571 |
34 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6454117 rs752186257 |
37 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1036410712 CA232546590 COSM88481 |
39 | R>* | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6454118 rs144209028 |
39 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA232546593 rs930627928 |
40 | A>T | No |
ClinGen Ensembl |
|
|
rs576945965 CA6454119 |
40 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6454120 rs746847704 |
41 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs199863871 CA6454121 |
42 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1048824819 CA232546628 |
44 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1441890339 CA384041815 |
45 | E>K | No |
ClinGen gnomAD |
|
|
CA384041826 rs1591650029 |
46 | D>A | No |
ClinGen Ensembl |
|
|
CA384041832 rs781022272 |
47 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745855585 CA6454123 |
47 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6454122 rs781022272 |
47 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6454125 rs775555383 |
48 | I>F | No |
ClinGen ExAC |
|
|
rs762963642 CA6454126 |
48 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6454127 rs768891310 |
49 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA232546665 rs1007158603 |
49 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA232546671 rs1007158603 |
49 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs774396176 CA384041860 |
52 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457251241 CA384041857 |
52 | A>T | No |
ClinGen gnomAD |
|
|
CA6454128 rs774396176 |
52 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750795092 COSM935701 CA6454131 |
55 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA384042521 rs1378660612 |
55 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA384042528 rs1278146731 |
56 | L>F | No |
ClinGen gnomAD |
|
|
CA6454177 rs761341064 |
57 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6454179 rs755742361 |
62 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs139975161 CA6454181 |
66 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6454182 rs202004830 CA384042613 |
68 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384042620 rs1251762165 |
69 | W>* | No |
ClinGen TOPMed |
|
|
CA384042625 rs1565546078 |
70 | L>F | No |
ClinGen Ensembl |
|
|
rs1316503906 CA384042633 |
71 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs72550776 CA232592437 |
72 | W>G | No |
ClinGen Ensembl |
|
|
rs1172244238 CA384042647 |
73 | A>S | No |
ClinGen gnomAD |
|
|
CA232592442 rs548583307 |
76 | E>D | No |
ClinGen gnomAD |
|
|
CA384042674 rs1591710563 |
77 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 81 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6454183 rs202244621 |
82 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6454184 rs748207538 |
82 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA232592447 rs202244621 |
82 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6454185 rs758542723 |
84 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6454186 rs777976357 |
86 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327523070 CA384042736 |
86 | T>P | No |
ClinGen gnomAD |
|
|
rs746179965 CA6454190 |
95 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA384042807 rs770229132 |
97 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6454192 rs776026236 |
98 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575376112 CA6454193 |
103 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767103229 CA6454194 |
104 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384042855 rs1191812308 |
104 | Y>H | No |
ClinGen gnomAD |
|
|
RCV001270548 rs1946357179 |
105 | R>* | No |
ClinVar dbSNP |
|
|
rs1565546170 CA384042865 |
105 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 105 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384042871 rs1181774813 |
106 | S>F | No |
ClinGen gnomAD |
|
|
rs1027740246 CA232592482 |
107 | P>L | No |
ClinGen Ensembl |
|
|
CA6454195 rs772696896 |
108 | H>Y | Variant assessed as Somatic; 9.279e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6454220 rs762955766 |
113 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757375701 CA384043001 |
116 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6454223 rs757375701 |
116 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6454224 rs765265003 |
117 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 123 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756279882 CA6454226 |
124 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1174107510 CA384043074 |
126 | P>L | No |
ClinGen gnomAD |
|
|
CA6454228 rs749555964 |
129 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA384043089 rs1485094502 |
129 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 131 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6454229 rs769171614 |
132 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1345612511 CA384043109 |
132 | P>Q | No |
ClinGen gnomAD |
|
|
CA384043105 rs769171614 |
132 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1264934100 CA384043111 |
133 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201130440 CA384043130 |
135 | H>L | No |
ClinGen 1000Genomes gnomAD |
|
|
COSM1728354 rs201130440 CA232598480 |
135 | H>R | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes gnomAD |
|
CA6454232 rs781336037 |
139 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384043162 rs1366107245 |
140 | I>T | No |
ClinGen gnomAD |
|
|
rs1302843261 CA384043159 |
140 | I>V | No |
ClinGen gnomAD |
|
|
CA6454233 COSM935745 rs146150601 |
141 | H>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA |
|
CA384043180 rs1316717602 |
143 | Q>E | No |
ClinGen gnomAD |
|
|
CA384043183 rs1164439709 |
143 | Q>R | No |
ClinGen TOPMed |
|
|
CA6454236 rs534511131 |
145 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762610106 CA384043206 |
147 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6454237 rs762610106 |
147 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384043215 rs1193703888 |
148 | L>R | No |
ClinGen gnomAD |
|
|
CA6454238 rs764162273 |
149 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1476984105 CA384043228 |
150 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178933075 CA384043236 |
151 | N>I | No |
ClinGen gnomAD |
|
|
rs1195323334 CA384043240 |
152 | H>N | No |
ClinGen TOPMed |
|
|
CA384043253 rs1456536277 |
153 | E>D | No |
ClinGen gnomAD |
|
|
rs1157133215 CA384043263 |
155 | D>N | No |
ClinGen gnomAD |
|
|
CA384043289 rs1283269910 |
156 | N>K | No |
ClinGen gnomAD |
|
|
rs1179480567 CA384043294 |
157 | C>Y | No |
ClinGen TOPMed |
|
|
CA384043318 rs1353564952 |
160 | R>S | No |
ClinGen gnomAD |
|
|
CA6454260 rs773362352 |
161 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6454261 rs760628839 |
162 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766450960 CA6454262 |
163 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1342658587 CA384043333 |
163 | R>M | No |
ClinGen TOPMed |
|
|
rs142603082 CA6454265 |
166 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142603082 CA6454264 |
166 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384043356 rs1485892529 |
167 | D>G | No |
ClinGen gnomAD |
|
|
rs758916322 CA6454267 |
169 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6454269 rs745417305 |
171 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs755624728 CA6454270 |
172 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1591735172 CA384043393 |
172 | N>T | No |
ClinGen Ensembl |
|
|
rs1428361713 CA384043400 |
173 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs749007545 CA6454272 |
174 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1395813540 CA384043411 |
175 | T>N | No |
ClinGen gnomAD |
|
|
CA384043416 rs1333027552 |
176 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762900235 CA232607788 |
176 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 179 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149660037 CA6454275 |
181 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs150089916 CA6454276 |
181 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6454278 rs760638102 |
182 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6454277 rs773060957 |
182 | S>T | No |
ClinGen ExAC |
|
|
rs1348250356 CA384043458 |
183 | R>K | No |
ClinGen gnomAD |
|
|
rs372716250 CA6454281 |
186 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1368651450 CA384043478 |
186 | I>M | No |
ClinGen TOPMed |
|
|
rs765383087 CA384043477 |
186 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs765383087 CA6454282 |
186 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs372716250 CA6454280 COSM1705170 |
186 | I>V | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs753079378 CA6454283 |
187 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753079378 CA232607839 |
187 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201820837 CA6454286 |
191 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1032591469 CA384043511 |
192 | P>H | No |
ClinGen TOPMed |
|
|
CA232607870 rs1032591469 |
192 | P>R | No |
ClinGen TOPMed |
|
|
CA232607873 rs192765271 |
194 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA384043521 rs1466031507 |
194 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384043527 rs1591735328 |
195 | D>A | No |
ClinGen Ensembl |
|
|
CA6454290 rs138600719 |
196 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6454293 rs747770209 |
199 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373494708 CA6454292 |
199 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 201 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6454295 RCV000501984 rs145477191 RCV000974112 |
201 | L>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs567885519 CA6454297 |
202 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200351280 CA6454299 |
202 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567885519 CA384043567 |
202 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6454300 rs759560185 |
203 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1205904835 CA384043583 |
205 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 205 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384043581 rs1367618113 |
205 | L>V | No |
ClinGen TOPMed |
|
| rs1232497641 | 205 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763219356 CA6454303 |
206 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1463554644 CA384043596 |
207 | N>S | No |
ClinGen gnomAD |
|
|
CA6454304 rs764427161 |
209 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1591735440 CA384043612 |
209 | I>T | No |
ClinGen Ensembl |
|
|
rs762232508 CA6454306 |
210 | R>C | Variant assessed as Somatic; 0.0004622 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6454307 rs201298740 |
210 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6454308 rs753422664 |
211 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs111871763 CA384043622 |
211 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 215 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455375108 CA384043643 |
215 | A>V | No |
ClinGen gnomAD |
|
|
CA6454311 rs752454285 |
219 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6454312 rs758064156 |
221 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1194249 rs1591735559 CA384043690 |
222 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6454313 rs373315577 |
223 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781065435 CA6454316 |
224 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384043699 rs1295981578 |
224 | H>Y | No |
ClinGen TOPMed |
|
|
CA232608072 rs1049947201 |
226 | E>D | No |
ClinGen Ensembl |
|
|
rs924726546 CA232608070 |
226 | E>Q | No |
ClinGen TOPMed |
|
|
rs553741975 COSM138018 CA6454317 |
228 | N>S | lung skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1215833044 CA384043760 |
232 | S>F | No |
ClinGen gnomAD |
|
|
rs934731555 CA232608089 |
233 | Y>H | No |
ClinGen TOPMed |
|
|
rs1389561918 CA384043788 |
237 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775539045 CA6454319 |
240 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384043829 rs1438953279 |
243 | N>H | No |
ClinGen gnomAD |
|
|
rs1181902533 CA384043833 |
243 | N>S | No |
ClinGen gnomAD |
|
|
rs768857324 CA6454321 |
244 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs144782370 CA232608131 |
247 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384043859 rs1471394547 |
247 | A>P | No |
ClinGen gnomAD |
|
|
CA6454322 rs144782370 |
247 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6454326 rs370744157 |
250 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384043881 rs753532204 |
251 | S>P | No |
ClinGen gnomAD |
|
|
CA232608147 rs753532204 |
251 | S>T | No |
ClinGen gnomAD |
|
|
rs867045266 CA232608157 |
252 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs200525003 CA6454327 |
253 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1235323168 CA384043893 |
253 | P>T | No |
ClinGen gnomAD |
|
|
rs141868934 CA6454330 COSM291021 |
259 | R>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 259 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6454332 rs757118909 COSM1205753 |
259 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs141868934 CA6454331 |
259 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780946855 CA6454333 |
260 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1236419642 CA384043962 |
263 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM272651 CA6454334 rs745867456 |
264 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs150621299 CA6454335 RCV000851883 |
264 | R>H | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
CA232608241 rs1047383225 |
265 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1374338235 CA384043999 |
269 | M>I | No |
ClinGen gnomAD |
|
|
CA232608259 rs1024869355 |
270 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1368398544 CA384044006 |
271 | S>G | No |
ClinGen gnomAD |
|
|
rs749331698 CA6454337 |
271 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1378709533 CA384044024 |
273 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1167708892 CA384044021 |
273 | I>T | No |
ClinGen TOPMed |
|
|
rs768784237 CA6454338 |
273 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384044031 CA384044032 rs1394547468 |
274 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1591735845 CA384044039 |
275 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 282 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273116716 CA384044082 |
282 | R>Q | No |
ClinGen gnomAD |
|
|
rs772622167 CA6454341 |
282 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268308448 CA384044085 |
283 | H>Y | No |
ClinGen TOPMed |
|
|
CA384044095 rs1211248463 |
284 | S>Y | No |
ClinGen gnomAD |
|
|
rs376242225 CA6454344 COSM3416545 |
285 | V>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA384044117 rs1484167378 |
287 | F>L | No |
ClinGen TOPMed |
|
|
CA384044119 rs1565560187 |
288 | K>E | No |
ClinGen Ensembl |
|
|
rs774881461 CA6454345 |
288 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs970651209 CA232608320 |
291 | R>G | No |
ClinGen gnomAD |
|
|
CA6454346 rs72550787 |
291 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6454347 rs763478533 |
291 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384044155 rs1471948383 |
294 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1436571850 CA384044166 |
295 | D>G | No |
ClinGen gnomAD |
|
|
rs1281326412 CA384044179 |
297 | L>R | No |
ClinGen TOPMed |
|
|
rs756059818 CA6454352 |
298 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365939019 CA384044191 |
299 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs779994835 CA6454353 |
299 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001222303 CA6454354 rs372530736 |
302 | K>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6454356 rs778843421 |
303 | P>H | No |
ClinGen ExAC |
|
|
CA384044226 rs1300993680 |
304 | I>M | No |
ClinGen gnomAD |
|
|
CA6454357 rs748468451 |
304 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384044230 rs555147578 |
305 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs555147578 CA6454358 |
305 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs996944780 CA232608375 |
307 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 307 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269640792 CA384044245 |
308 | H>N | No |
ClinGen gnomAD |
|
|
rs1269640792 CA384044247 |
308 | H>Y | No |
ClinGen gnomAD |
|
|
CA6454359 rs778292164 |
309 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1465114480 CA384044254 |
309 | R>W | Variant assessed as Somatic; 4.851e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384044267 COSM1298985 rs1478954275 |
311 | D>N | Variant assessed as Somatic; 4.858e-05 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA384044276 rs1424160112 |
312 | L>P | No |
ClinGen gnomAD |
|
|
CA6454361 rs771593728 |
313 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384044282 rs771593728 |
313 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573827465 CA232608383 |
314 | Y>C | No |
ClinGen 1000Genomes |
|
| TCGA novel | 314 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759940036 CA384044293 |
315 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759940036 CA6454363 |
315 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777232904 CA6454362 |
315 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384044314 rs1565560356 |
318 | I>V | No |
ClinGen Ensembl |
|
|
rs768272889 CA6454364 |
319 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1396845783 CA384044328 |
320 | V>I | No |
ClinGen gnomAD |
|
|
CA384044355 rs1274778570 |
324 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3670988 CA384044356 rs1274778570 |
324 | P>Q | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA384044372 rs1409993308 |
327 | E>K | No |
ClinGen TOPMed |
|
|
COSM327251 rs1329969977 CA384044382 |
328 | H>Y | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6454367 rs184240587 |
329 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384044397 rs1227449370 |
330 | M>T | No |
ClinGen gnomAD |
|
|
rs750241551 CA6454368 |
331 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1265639696 CA384044403 |
331 | P>S | No |
ClinGen gnomAD |
|
|
CA6454369 rs760424615 |
332 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384044408 rs1246069965 |
332 | I>V | No |
ClinGen gnomAD |
|
|
CA384044424 rs1208563282 |
334 | R>S | No |
ClinGen TOPMed |
|
| VAR_034600 | 344 | Y>YG | one individual with AML; somatic mutation; unable to repress transcription [UniProt] | No | UniProt |
|
rs765031845 CA6454391 |
345 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591749369 CA384044520 RCV000825032 |
346 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA384044518 rs1230474319 |
346 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407031773 CA384044532 |
347 | Q>H | No |
ClinGen TOPMed |
|
|
rs1591749381 RCV000851970 CA384044536 |
348 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA232636272 rs199735381 |
351 | D>A | No |
ClinGen gnomAD |
|
|
rs199735381 CA384044554 RCV000522347 |
351 | D>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs758587774 CA384044566 |
353 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6454394 rs777974779 |
353 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 357 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384044597 rs1428988602 |
357 | F>Y | No |
ClinGen TOPMed |
|
|
rs1235766887 CA384044604 |
358 | I>V | No |
ClinGen gnomAD |
|
|
rs141938078 CA384044610 |
359 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6454398 rs746162086 |
359 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 361 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM310950 rs780503242 CA6454400 |
363 | K>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA384044640 rs1403421167 |
363 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs202119450 CA232636337 |
366 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 376 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232636374 rs146280653 |
378 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146280653 CA6454404 |
378 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 385 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414711241 CA384044814 |
387 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 391 | Y>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 392 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 398 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs724159945 COSM303869 CA384044897 |
399 | R>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA384044911 rs1591750551 RCV001003909 |
401 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 404 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000599499 rs1555147704 |
407 | I>NYYKLNII | No |
ClinVar dbSNP |
|
| TCGA novel | 407 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386181781 CA384044990 |
411 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293209607 CA384045003 |
413 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1188038379 CA384045018 |
416 | L>M | No |
ClinGen TOPMed |
|
|
RCV000851676 rs1591750603 CA384045032 |
417 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 422 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749044114 CA6454450 |
424 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA384045088 rs1457301823 |
424 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 425 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232641546 rs968694572 |
426 | I>T | No |
ClinGen Ensembl |
|
|
CA384045114 rs1430184513 |
427 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1372110565 CA384045110 |
427 | M>V | No |
ClinGen gnomAD |
|
|
RCV001270517 rs1437274494 |
430 | R>* | No |
ClinVar dbSNP |
|
|
CA232641560 rs772935596 |
430 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6454454 rs772103786 |
431 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 432 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264117662 CA384045151 |
433 | R>C | No |
ClinGen gnomAD |
|
|
CA384045152 rs1398054657 |
433 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 436 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400309771 CA384045191 |
439 | S>A | No |
ClinGen TOPMed |
|
|
rs12231057 CA232641600 |
440 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384045246 rs1423071040 |
447 | Y>N | No |
ClinGen TOPMed |
|
|
rs959436466 CA232641611 |
452 | C>* | No |
ClinGen TOPMed |
|
|
CA6454461 rs765563314 |
452 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6454462 rs753200787 |
452 | C>Y | No |
ClinGen ExAC gnomAD |
12 associated diseases with P41212
[MIM: 131440]: Myeloproliferative disorder chronic with eosinophilia (MPE)
A hematologic disorder characterized by malignant eosinophils proliferation. . Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein. .
[MIM: 601626]: Leukemia, acute myelogenous (AML)
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. . Note=The gene represented in this entry is involved in disease pathogenesis.
[MIM: 616216]: Thrombocytopenia 5 (THC5)
A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A hematologic disorder characterized by malignant eosinophils proliferation. . Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein. .
- A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. . Note=The gene represented in this entry is involved in disease pathogenesis.
- A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies. . Note=The disease is caused by variants affecting the gene represented in this entry.
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 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. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| 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. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| hematopoietic stem cell proliferation | The expansion of a hematopoietic stem cell population by cell division. A hematopoietic stem cell is a stem cell from which all cells of the lymphoid and myeloid lineages develop. |
| mesenchymal cell apoptotic process | Any apoptotic process in a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. |
| 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. |
| neurogenesis | Generation of cells within the nervous system. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| vitellogenesis | The production of yolk. Yolk is a mixture of materials used for embryonic nutrition. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58DT0 | ELF5 | ETS-related transcription factor Elf-5 | Bos taurus (Bovine) | SS |
| Q0VC65 | ETV6 | Transcription factor ETV6 | Bos taurus (Bovine) | SS |
| Q99607 | ELF4 | ETS-related transcription factor Elf-4 | Homo sapiens (Human) | PR |
| Q9Y603 | ETV7 | Transcription factor ETV7 | 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 |
| 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 |
| P50549 | ETV1 | ETS translocation variant 1 | Homo sapiens (Human) | EV |
| 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 |
| Q8VDK3 | Elf5 | ETS-related transcription factor Elf-5 | Mus musculus (Mouse) | SS |
| Q60775 | Elf1 | ETS-related transcription factor Elf-1 | Mus musculus (Mouse) | PR |
| Q9JHC9 | Elf2 | ETS-related transcription factor Elf-2 | Mus musculus (Mouse) | PR |
| Q9Z2U4 | Elf4 | ETS-related transcription factor Elf-4 | Mus musculus (Mouse) | PR |
| P97360 | Etv6 | Transcription factor ETV6 | Mus musculus (Mouse) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSETPAQCSI | KQERISYTPP | ESPVPSYASS | TPLHVPVPRA | LRMEEDSIRL | PAHLRLQPIY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WSRDDVAQWL | KWAENEFSLR | PIDSNTFEMN | GKALLLLTKE | DFRYRSPHSG | DVLYELLQHI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LKQRKPRILF | SPFFHPGNSI | HTQPEVILHQ | NHEEDNCVQR | TPRPSVDNVH | HNPPTIELLH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RSRSPITTNH | RPSPDPEQRP | LRSPLDNMIR | RLSPAERAQG | PRPHQENNHQ | ESYPLSVSPM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ENNHCPASSE | SHPKPSSPRQ | ESTRVIQLMP | SPIMHPLILN | PRHSVDFKQS | RLSEDGLHRE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GKPINLSHRE | DLAYMNHIMV | SVSPPEEHAM | PIGRIADCRL | LWDYVYQLLS | DSRYENFIRW |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EDKESKIFRI | VDPNGLARLW | GNHKNRTNMT | YEKMSRALRH | YYKLNIIRKE | PGQRLLFRFM |
| 430 | 440 | 450 | |||
| KTPDEIMSGR | TDRLEHLESQ | ELDEQIYQED | EC |