RNF10
ring finger protein 10, the group of Ring finger proteins
Basic information
Region (hg38): 12:120533479-120577588
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (16 variants)
- not provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF10 gene is commonly pathogenic or not.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 16 | 1 | 17 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice variant | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 16 | 1 | 1 |
Variants in RNF10
This is a list of pathogenic ClinVar variants found in the RNF10 region.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 12-120534868-C-A | Inborn genetic diseases | Uncertain significance (Nov 23, 2022) | ||
| 12-120534876-A-G | Inborn genetic diseases | Likely benign (Apr 07, 2023) | ||
| 12-120534893-T-A | Inborn genetic diseases | Uncertain significance (Jun 29, 2023) | ||
| 12-120534953-T-G | Inborn genetic diseases | Uncertain significance (Jan 10, 2022) | ||
| 12-120546432-G-A | Inborn genetic diseases | Uncertain significance (Oct 18, 2021) | ||
| 12-120546441-G-A | Inborn genetic diseases | Uncertain significance (Jun 02, 2023) | ||
| 12-120546494-C-T | Inborn genetic diseases | Uncertain significance (Dec 19, 2022) | ||
| 12-120546551-G-A | Inborn genetic diseases | Uncertain significance (Jul 13, 2021) | ||
| 12-120546580-T-C | Likely benign (Jul 16, 2018) | |||
| 12-120552557-T-A | Inborn genetic diseases | Uncertain significance (Jun 16, 2023) | ||
| 12-120552605-C-T | Inborn genetic diseases | Uncertain significance (Jun 21, 2023) | ||
| 12-120557315-A-G | Inborn genetic diseases | Uncertain significance (May 23, 2023) | ||
| 12-120557565-C-T | Inborn genetic diseases | Uncertain significance (Nov 09, 2021) | ||
| 12-120557593-C-T | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) | ||
| 12-120557619-G-A | Inborn genetic diseases | Uncertain significance (May 09, 2022) | ||
| 12-120560794-C-G | Inborn genetic diseases | Uncertain significance (Jul 13, 2022) | ||
| 12-120562954-G-A | Inborn genetic diseases | Uncertain significance (Aug 28, 2023) | ||
| 12-120562975-G-A | Benign (Jul 16, 2018) | |||
| 12-120563048-A-G | Inborn genetic diseases | Uncertain significance (Nov 08, 2021) | ||
| 12-120563476-G-A | Inborn genetic diseases | Uncertain significance (Jun 22, 2021) | ||
| 12-120563513-A-G | Inborn genetic diseases | Uncertain significance (Sep 17, 2021) | ||
| 12-120563534-C-G | Inborn genetic diseases | Uncertain significance (Feb 15, 2023) | ||
| 12-120566863-T-C | Inborn genetic diseases | Uncertain significance (Jan 10, 2022) | ||
| 12-120566881-T-C | Inborn genetic diseases | Uncertain significance (Mar 31, 2023) | ||
| 12-120566912-C-T | Inborn genetic diseases | Uncertain significance (Nov 30, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RNF10 | protein_coding | protein_coding | ENST00000325954 | 17 | 44115 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.164 | 0.836 | 125596 | 0 | 152 | 125748 | 0.000605 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.777 | 416 | 463 | 0.898 | 0.0000255 | 5326 |
| Missense in Polyphen | 78 | 121.7 | 0.64095 | 1354 | ||
| Synonymous | 0.470 | 163 | 171 | 0.954 | 0.00000906 | 1573 |
| Loss of Function | 4.51 | 10 | 41.3 | 0.242 | 0.00000200 | 495 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000632 | 0.000570 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000168 | 0.000163 |
| Finnish | 0.000253 | 0.000231 |
| European (Non-Finnish) | 0.00114 | 0.00113 |
| Middle Eastern | 0.000168 | 0.000163 |
| South Asian | 0.0000654 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transcriptional factor involved in the regulation of MAG (Myelin-associated glycoprotein) expression. Acts as a regulator of Schwann cell differentiation and myelination. {ECO:0000250|UniProtKB:Q5XI59}.;
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.150
- rvis_EVS
- -0.6
- rvis_percentile_EVS
- 18.14
Haploinsufficiency Scores
- pHI
- 0.309
- hipred
- N
- hipred_score
- 0.426
- ghis
- 0.522
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.963
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rnf10
- Phenotype
- immune system phenotype; skeleton phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- negative regulation of Schwann cell proliferation;positive regulation of myelination;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;protein autoubiquitination
- Cellular component
- nucleus;cytoplasm
- Molecular function
- ubiquitin-protein transferase activity;protein binding;transcription regulatory region DNA binding;metal ion binding