Information on RNF168
Alt. symbols: FLJ35794
Approved name: ring finger protein 168
Alt. names: ring finger protein 168, E3 ubiquitin protein ligase
Location: 3q29: 196468783 - 196503768 (-)
Gene type: protein_coding, 2 transcripts.
Scores: LoFtool: 0.776000 | pLI: 0.00000000 | LOEUF: 1.198
Gene Ontology (GO)
- Molecular function: ubiquitin-protein transferase activity [GO:0004842]; nucleosome binding [GO:0031491]
- Cell component: nucleus [GO:0005634]; site of double-strand break [GO:0035861]
- Biological process: double-strand break repair [GO:0006302]
Normal function
Dysfunction and disease
RIDDLE syndrome [MIM:611943]. Biallelic mutations in RNF168 cause RIDDLE syndrome (OMIM 611943). This is an autosomal recessive syndrome of increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
RIDDLE |
RIDDLE syndrome | AR |
611943 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of RNF168
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000318037.3 | 1 | CCDS3317 | Select | protein_coding | 6 | Yes | 5347 | NM_152617 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 RNF168
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|