Information on MECOM
Basic details
Alt. symbols: MDS1 | EVI1 | MDS1-EVI1 | PRDM3 | KMT8E
Approved name: MDS1 and EVI1 complex locus
Alt. names: myelodysplasia syndrome 1, ecotropic viral integration site 1 | PR domain 3
Location: 3q26.2: 169083499 - 169663775 (-)
Gene type: protein_coding, 20 transcripts.
Scores: LoFtool: | pLI: 0.99908531 | LOEUF: 0.136
Normal function
Dysfunction and disease
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 [MIM:616738] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
0590 |
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | AD |
616738 |
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 MECOM
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 217 | ENST00000494292.6 | protein_coding | 16 | No | 4244 | NM_001366466,NM_001366473 | |||
| 201 | ENST00000264674.7 | CCDS54670 | protein_coding | 17 | No | 4900 | NM_001105077 | ||
| 208 | ENST00000468789.5 | CCDS3205 | protein_coding | 16 | No | 3691 | NM_001105078 | ||
| 209 | ENST00000472280.5 | protein_coding | 16 | No | 3593 | NM_001366467,NM_001366468 | |||
| 219 | ENST00000628990.2 | CCDS3205 | protein_coding | 16 | No | 4835 | NM_001205194,NM_001366469,NM_005241 | ||
| 206 | ENST00000464456.5 | CCDS54669 | protein_coding | 15 | No | 5732 | NM_001163999,NM_001164000,NM_001366470,NM_001366471,NM_001366472,NM_001366474 | ||
| 220 | ENST00000651503.2 | 1 | Select | protein_coding | 17 | Yes | 5462 | NM_004991 |
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 MECOM
| ID | Year | Title | Journal | PMID | Variants |
|---|