Information on MCM10
Basic details
Alt. symbols: PRO2249 | CNA43 | DNA43
Approved name: minichromosome maintenance 10 replication initiation factor
Alt. names: MCM10 minichromosome maintenance deficient 10 (S. cerevisiae), minichromosome maintenance complex component 10
Location: 10p13: 13161558 - 13211110 (+)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: 0.937000 | pLI: 0.00000000 | LOEUF: 0.838
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 |
|---|---|---|---|---|---|
IMD80 |
Immunodeficiency 80 | AR |
619313 |
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 MCM10
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 206 | ENST00000484800.6 | CCDS7096 | protein_coding | 20 | No | 3157 | NM_182751 | ||
| 202 | ENST00000378714.8 | CCDS7095 | Select | protein_coding | 20 | Yes | 4549 | NM_018518 |
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 MCM10
| ID | Year | Title | Journal | PMID | Variants |
|---|