PRR5-ARHGAP8
protein-codingPRR5-ARHGAP8 readthrough
Gene summary
The PRR5-ARHGAP8 mRNA is an infrequent but naturally occurring read-through transcript of the neighboring proline rich 5, renal (PRR5) and Rho GTPase activating protein 8 (ARHGAP8) genes. The resulting fusion protein contains sequence identity with each individual gene product, and it includes domains characteristic of a RhoGAP protein. The significance of this read-through transcript and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2010]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~160.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PRR5-ARHGAP8 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 1 | 4 | |||
| missense | 15 | 4 | 2 | 21 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 15 | 7 | 3 | 25 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_851851.3 | 15 | Standard | |
| Ensembl | ENSP00000262731.11 | 17 | Standard | |
| Ensembl | ENSP00000354732.5 | 15 | Standard | |
| Ensembl | ENSP00000425026.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- signal transduction
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000352766
- Coding exons
- 17
- Length
- 160474
- Individuals with no LoFs
- 125273
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 469
- Defined
- 125743
- p
- 0.00187
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -3.86 | 613 | 396 | 1.55 | 0.0000258 | 4113 |
| Missense (PolyPhen) | 176 | 133.1 | 1.3223 | 1388 | ||
| Synonymous | -4.83 | 265 | 182 | 1.46 | 0.0000131 | 1314 |
| Loss of Function | -1.22 | 38 | 30.7 | 1.24 | 0.00000140 | 346 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00082 | 0.00080 | rare |
| Latino/Admixed American | 0.0059 | 0.0059 | notable |
| Ashkenazi Jewish | 0.0019 | 0.0019 | notable |
| East Asian | 0.0071 | 0.0071 | notable |
| Finnish | 0.000093 | 0.000092 | rare |
| European (Non-Finnish) | 0.00068 | 0.00065 | rare |
| South Asian | 0.00075 | 0.00069 | rare |
| Other | 0.0014 | 0.0013 | notable |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- RVIS EVS
- 2.28
- RVIS percentile EVS
- 98.28
Essentials
- Essential (CRISPR)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |