RNF14
ring finger protein 14, the group of Ring finger proteins|RBR E3 ubiquitin ligases
Basic information
Region (hg38): 5:141958327-141990292
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (8 variants)
- not provided (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF14 gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 8 | 8 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 3 | 3 | ||||
| Total | 0 | 0 | 8 | 0 | 4 |
Variants in RNF14
This is a list of pathogenic ClinVar variants found in the RNF14 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-141959001-C-G | Benign (May 14, 2021) | |||
| 5-141959206-A-G | Benign (May 13, 2021) | |||
| 5-141959262-G-A | Benign (May 15, 2021) | |||
| 5-141974829-T-G | Inborn genetic diseases | Uncertain significance (Mar 03, 2022) | ||
| 5-141974950-A-T | Inborn genetic diseases | Uncertain significance (Oct 22, 2021) | ||
| 5-141978318-A-G | Inborn genetic diseases | Uncertain significance (Mar 14, 2023) | ||
| 5-141978487-A-G | Inborn genetic diseases | Uncertain significance (Jul 09, 2021) | ||
| 5-141978603-G-A | Inborn genetic diseases | Uncertain significance (Jun 05, 2023) | ||
| 5-141978647-G-C | Inborn genetic diseases | Uncertain significance (May 24, 2023) | ||
| 5-141978742-A-C | Inborn genetic diseases | Uncertain significance (Nov 23, 2021) | ||
| 5-141978799-C-A | Inborn genetic diseases | Uncertain significance (Sep 29, 2022) | ||
| 5-141980184-C-T | Inborn genetic diseases | Uncertain significance (May 27, 2022) | ||
| 5-141980240-G-A | Inborn genetic diseases | Uncertain significance (Nov 21, 2022) | ||
| 5-141980347-T-G | Benign (Sep 10, 2018) | |||
| 5-141980349-C-T | Inborn genetic diseases | Uncertain significance (Jun 02, 2023) | ||
| 5-141984822-A-T | Inborn genetic diseases | Uncertain significance (Sep 01, 2021) | ||
| 5-141984906-A-G | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RNF14 | protein_coding | protein_coding | ENST00000394520 | 7 | 31964 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00111 | 0.997 | 125720 | 0 | 28 | 125748 | 0.000111 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.38 | 187 | 248 | 0.753 | 0.0000125 | 3135 |
| Missense in Polyphen | 30 | 65.304 | 0.45939 | 855 | ||
| Synonymous | 0.0542 | 93 | 93.7 | 0.993 | 0.00000495 | 858 |
| Loss of Function | 2.71 | 9 | 23.1 | 0.390 | 0.00000114 | 293 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000153 | 0.000151 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000217 | 0.000217 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000159 | 0.000158 |
| Middle Eastern | 0.000217 | 0.000217 |
| South Asian | 0.0000654 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Might act as an E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates, which could be nuclear proteins. Could play a role as a coactivator for androgen- and, to a lesser extent, progesterone-dependent transcription. {ECO:0000269|PubMed:19345326}.;
- Pathway
- Androgen receptor signaling pathway;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;AndrogenReceptor
(Consensus)
Recessive Scores
- pRec
- 0.135
Intolerance Scores
- loftool
- 0.105
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 40.16
Haploinsufficiency Scores
- pHI
- 0.183
- hipred
- Y
- hipred_score
- 0.674
- ghis
- 0.621
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.987
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rnf14
- Phenotype
Gene ontology
- Biological process
- protein polyubiquitination;regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;ubiquitin-dependent protein catabolic process;signal transduction;protein ubiquitination;androgen receptor signaling pathway;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;positive regulation of transcription, DNA-templated;regulation of androgen receptor signaling pathway
- Cellular component
- ubiquitin ligase complex;nucleus;cytoplasm;cytosol
- Molecular function
- transcription coactivator activity;protein binding;ubiquitin-like protein transferase activity;ubiquitin conjugating enzyme binding;metal ion binding;androgen receptor binding;ubiquitin protein ligase activity