Information on RNU4ATAC
Basic details
Alt. symbols: RNU4ATAC1 | U4atac
Approved name: RNA, U4atac small nuclear
Alt. names: RNA, U4atac small nuclear (U12-dependent splicing) | U4atac snRNA
Location: 2q14.2: 121530881 - 121531007 (+)
Gene type: snRNA, 1 transcripts.
Scores: LoFtool: | pLI: | LOEUF:
Normal function
Dysfunction and disease
Roifman syndrome [MIM:616651] | Microcephalic osteodysplastic primordial dwarfism, type I [MIM:210710] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
RFMN |
Roifman syndrome | AR |
616651 |
0 (0 fams) | |
| LWS |
Lowry-Wood syndrome | AR |
226960 |
0 (0 fams) | |
| MOPD1 |
Microcephalic osteodysplastic primordial dwarfism, type I | AR |
210710 |
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 RNU4ATAC
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|
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 RNU4ATAC
| ID | Year | Title | Journal | PMID | Variants |
|---|