Information on RNU7-1
Basic details
Alt. symbols: RNU7 | U7.1
Approved name: RNA, U7 small nuclear 1
Alt. names: RNA, small nuclear U7, RNA, U7 small nuclear | RNA, small nuclear U7.1
Location: 12p13.31: 6943816 - 6943878 (+)
Gene type: snRNA, 1 transcripts.
Scores: LoFtool: | pLI: | LOEUF:
Normal function
LSM11 and RNU7-1 respectively encode protein and snRNA components of the U7 small nuclear ribonucleoprotein (snRNP) complex important for pre-mRNA-processing of the replication-dependent histone (RDH) genes.
Dysfunction and disease
Mutations in LSM11 and RNU7-1 are two of the most recently identified causes of recessively inherited Aicardi-Goutieres syndrome (AGS) [OMIM: 619486, 619487], found in individuals from multiple unrelated families with typical AGS features (PMID: 33230297). The replication-dependent histone (RDH) genes encode the four core histones and H1 linker histone. Their mRNA products uniquely do not contain introns and are the only known eukaryotic mRNAs without a 3’ poly(A) tail. Defects in their pre-mRNA processing result in accumulation of aberrant mRNA isoforms possessing a poly(A) tail due to downstream cryptic polyadenylation signals. This disrupts normal histone stoichiometry, resulting in the accumulation of chromatin without linker histones, which alters nuclear cGAS distribution and stimulates its production of cGAMP, leading to enhanced STING-mediated IFN signaling (PMID: 33230297). [Load More]
[Reviewed by Xiao P. Peng on 2022-07-10 05:46:20]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
AGS9 |
Aicardi-Goutieres syndrome 9 | AR |
619487 |
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 RNU7-1
| 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 RNU7-1
| ID | Year | Title | Journal | PMID | Variants |
|---|