Information on NOP10
Basic details
Alt. symbols: NOLA3 | NOP10P | MGC70651
Approved name: NOP10 ribonucleoprotein
Alt. names: nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs), NOP10 ribonucleoprotein homolog (yeast) | homolog of yeast Nop10p
Location: 15q14: 34339159 - 34343180 (-)
Gene type: protein_coding, 9 transcripts.
Scores: LoFtool: 0.343000 | pLI: 0.80201376 | LOEUF: 0.616
Normal function
Dysfunction and disease
Dyskeratosis congenita, autosomal recessive 1 [MIM:224230] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
DKC1 |
Dyskeratosis congenita, autosomal recessive 1 | AR |
224230 |
0 (0 fams) | |
| PFBMFT9 |
Telomere-related pulmonary fibrosis and/or bone marrow failure syndrome-9 | AD |
620400 |
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 NOP10
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000328848.6 | 1 | CCDS10037 | Select | protein_coding | 2 | Yes | 507 | NM_018648 |
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 NOP10
| ID | Year | Title | Journal | PMID | Variants |
|---|