PRR5-ARHGAP8

PRR5-ARHGAP8 readthrough

Basic information

Region (hg38): 22:44702233-44862706

Links

ENSG00000248405 ∙ NCBI:553158 ∙ ∙ HGNC:34512 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRR5-ARHGAP8 gene.

• Inborn genetic diseases (24 variants)
• not provided (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR5-ARHGAP8 gene is commonly pathogenic or not. These statistics are base on transcript: . 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	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

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR5-ARHGAP8	protein_coding	protein_coding	ENST00000352766	17	160474

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.14e-28	0.00000646	125273	1	469	125743	0.00187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.86	613	396	1.55	0.0000258	4113
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00677	0.00675
Ashkenazi Jewish	0.00189	0.00189
East Asian	0.00712	0.00709
Finnish	0.0000933	0.0000924
European (Non-Finnish)	0.000681	0.000651
Middle Eastern	0.00712	0.00709
South Asian	0.000752	0.000686
Other	0.00139	0.00130

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 2.28
• rvis_percentile_EVS: 98.28

Haploinsufficiency Scores

• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: signal transduction