Information on ETS1
Basic details
Alt. symbols: EWSR2 | FLJ10768 | ETS-1
Approved name: ETS proto-oncogene 1, transcription factor
Alt. names: v-ets avian erythroblastosis virus E26 oncogene homolog 1 | Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1, ets protein
Location: 11q24.3: 128458761 - 128587558 (-)
Gene type: protein_coding, 9 transcripts.
Scores: LoFtool: 0.084000 | pLI: 0.79517666 | LOEUF: 0.389
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
JBS |
Jacobsen syndrome | AD |
147791 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of ETS1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000526145.6 | CCDS81648 | protein_coding | 7 | No | 3389 | NM_001330451 | ||
| 208 | ENST00000535549.5 | CCDS53724 | protein_coding | 4 | No | 4594 | NM_001162422 | ||
| 201 | ENST00000319397.7 | CCDS8475 | protein_coding | 8 | No | 2231 | NM_005238 | ||
| 202 | ENST00000392668.8 | CCDS44767 | Select | protein_coding | 10 | Yes | 5139 | NM_001143820 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in ETS1
| ID | Year | Title | Journal | PMID | Variants |
|---|