RANGRF
RAN guanine nucleotide release factor
Basic information
Region (hg38): 17:8288654-8290092
Links
Phenotypes
GenCC
Source:
- Brugada syndrome (Limited), mode of inheritance: AD
- Brugada syndrome (Disputed Evidence), mode of inheritance: AD
- Brugada syndrome (Limited), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
- Cardiac_arrhythmia (148 variants)
- not_specified (35 variants)
- not_provided (21 variants)
- RANGRF-related_disorder (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RANGRF gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016492.5. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 38 | 41 | ||||
| missense | 76 | 79 | ||||
| nonsense | 6 | |||||
| start loss | 1 | 1 | ||||
| frameshift | 4 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| Total | 0 | 0 | 87 | 42 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RANGRF | protein_coding | protein_coding | ENST00000226105 | 5 | 1596 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000244 | 0.527 | 124733 | 5 | 1010 | 125748 | 0.00404 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.223 | 109 | 103 | 1.06 | 0.00000519 | 1210 |
| Missense in Polyphen | 39 | 38.196 | 1.0211 | 492 | ||
| Synonymous | 0.208 | 40 | 41.7 | 0.959 | 0.00000231 | 378 |
| Loss of Function | 0.622 | 8 | 10.1 | 0.789 | 5.46e-7 | 97 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00197 | 0.00196 |
| Ashkenazi Jewish | 0.000200 | 0.000198 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.0109 | 0.0108 |
| European (Non-Finnish) | 0.00574 | 0.00562 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.00176 | 0.00177 |
| Other | 0.00573 | 0.00572 |
dbNSFP
Source:
- Function
- FUNCTION: May regulate the intracellular trafficking of RAN (PubMed:11290418). Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotide exchange factor RCC1 (PubMed:29040603). Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics (PubMed:29040603). Enhances the expression of SCN5A at the cell membrane in cardiomyocytes (PubMed:18184654, PubMed:23420830, PubMed:21621375). {ECO:0000269|PubMed:11290418, ECO:0000269|PubMed:18184654, ECO:0000269|PubMed:21621375, ECO:0000269|PubMed:23420830, ECO:0000269|PubMed:29040603}.;
- Pathway
- Phase 0 - rapid depolarisation;Cardiac conduction;Muscle contraction
(Consensus)
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- loftool
- 0.465
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.58
Haploinsufficiency Scores
- pHI
- 0.114
- hipred
- Y
- hipred_score
- 0.556
- ghis
- 0.377
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.750
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rangrf
- Phenotype
Zebrafish Information Network
- Gene name
- rangrf
- Affected structure
- heart contraction
- Phenotype tag
- abnormal
- Phenotype quality
- decreased rate
Gene ontology
- Biological process
- regulation of heart rate;regulation of membrane depolarization;endoplasmic reticulum to Golgi vesicle-mediated transport;protein exit from endoplasmic reticulum;regulation of membrane potential;regulation of microtubule nucleation by Ran protein signal transduction;regulation of bundle of His cell action potential;regulation of cardiac muscle cell action potential involved in regulation of contraction;regulation of membrane depolarization during cardiac muscle cell action potential;regulation of sodium ion transmembrane transport;positive regulation of protein localization to plasma membrane;positive regulation of protein localization to cell surface;regulation of sodium ion transmembrane transporter activity
- Cellular component
- nucleus;nucleoplasm;cytoplasm;rough endoplasmic reticulum;cytosol;plasma membrane;caveola;intercalated disc;perinuclear region of cytoplasm
- Molecular function
- guanyl-nucleotide exchange factor activity;Ran guanyl-nucleotide exchange factor activity;Ran GTPase binding;protein transporter activity;sodium channel regulator activity;ion channel binding