Information on ZNFX1
Basic details
Alt. symbols: KIAA1404 | FLJ11277
Approved name: zinc finger NFX1-type containing 1
Alt. names: zinc finger, NFX1-type containing 1
Location: 20q13.13: 49237946 - 49278426 (-)
Gene type: protein_coding, 6 transcripts.
Scores: LoFtool: 0.033100 | pLI: 0.99998110 | LOEUF: 0.252
Normal function
ZNFX1 gene encodes a RNA-binding protein that initiates the antiviral response and is required to restrict the replication of RNA viruses (PubMed:33872655). Acts as a double-stranded RNA (dsRNA) sensor that recognizes viral RNA and then interacts with MAVS to initiate the type I interferon response (by similarity). It is also required for immunity against some bacteria, such as mycobacteria.
Dysfunction and disease
Homozygous or compound heterozygous mutations in the ZNFX1 gene cause an immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system. [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2023-04-28 07:59:09]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD91 |
Immunodeficiency 91 and hyperinflammation | AR |
619644 |
4 (3 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not been completed yet. It is currently ongoing.
Transcripts of ZNFX1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000396105.6 | CCDS13417 | Select | protein_coding | 14 | Yes | 7209 | NM_021035 |
Published variants
Found 2 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| E1606Rfs*10 |
EX14 | 4900-4903 | c.4815_4818del | p.Glu1606ArgfsTer10 | frameshift_variant | Pathogenic | 1 |
| Y362* |
EX3 | 1171 | c.1086C>G | p.Tyr362Ter | stop_gained | Pathogenic | 1 |
Please mind that full curation (inclusion of all published variants) of this gene has not been completed yet. It is currently ongoing.
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 ZNFX1
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 833 |
2021 | Inherited deficiency of stress granule ZNFX1 in patients wit... | PNAS | 33876776 |
1 |
| 835 |
2022 | Biallelic ZNFX1 variants are associated with a spectrum of i... | Clin. Gen. | 34708404 |
1 |