Information on OSTM1
Basic details
Alt. symbols: HSPC019 | GL
Approved name: osteoclastogenesis associated transmembrane protein 1
Alt. names: osteopetrosis associated transmembrane protein 1 | CLCN7 accessory beta subunit, grey-lethal
Location: 6q21: 108029245 - 108165854 (-)
Gene type: protein_coding, 22 transcripts.
Scores: LoFtool: 0.492000 | pLI: 0.06047142 | LOEUF: 0.737
Normal function
Dysfunction and disease
Osteopetrosis, autosomal recessive 5 [MIM:259720] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
OPTB5 |
Osteopetrosis, autosomal recessive 5 | AR |
259720 |
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 OSTM1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000193322.8 | CCDS5062 | Select | protein_coding | 6 | Yes | 4471 | NM_014028 | |
| 215 | ENST00000699577.1 | protein_coding | No | XM_047418679 | |||||
| 216 | ENST00000699578.1 | nonsense_mediated_decay | No | XM_047418680 |
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 OSTM1
| ID | Year | Title | Journal | PMID | Variants |
|---|