Information on MYSM1
Basic details
Alt. symbols: KIAA1915
Approved name: Myb like, SWIRM and MPN domains 1
Alt. names: Myb-like, SWIRM and MPN domains 1
Location: 1p32.1: 58643440 - 58700090 (-)
Gene type: protein_coding, 26 transcripts.
Scores: LoFtool: 0.748000 | pLI: 0.02023164 | LOEUF: 0.408
Normal function
Dysfunction and disease
Bone marrow failure syndrome 4 [MIM:618116] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
BMFS4 |
Bone marrow failure syndrome 4 | AR |
618116 |
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 MYSM1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 212 | ENST00000665648.1 | nonsense_mediated_decay | No | 7192 | XM_047443720 | ||||
| 202 | ENST00000472487.6 | 1 | CCDS41343 | Select | protein_coding | 20 | Yes | 7751 | NM_001085487 |
| 217 | ENST00000697255.1 | protein_coding | No | XM_011540574 |
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 | - | |
| 2015 | Somatic reversion | 26220525 | back mutation |
| - | 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. |
References linked to variants in MYSM1
| ID | Year | Title | Journal | PMID | Variants |
|---|