ARHGAP30

Rho GTPase activating protein 30, the group of Rho GTPase activating proteins

Basic information

Region (hg38): 1:161046945-161069970

Links

ENSG00000186517 ∙ NCBI:257106 ∙ OMIM:614264 ∙ HGNC:27414 ∙ Uniprot:Q7Z6I6 ∙ AlphaFold ∙ 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 ARHGAP30 gene.

• Inborn genetic diseases (35 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP30 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	1	0

Variants in ARHGAP30

This is a list of pathogenic ClinVar variants found in the ARHGAP30 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-161047771-G-A		not specified	Uncertain significance (Oct 12, 2021)
1-161047804-G-T		not specified	Uncertain significance (Dec 07, 2021)
1-161047834-G-A		not specified	Uncertain significance (Dec 15, 2023)
1-161047846-C-T		not specified	Uncertain significance (Dec 06, 2022)
1-161047887-C-T		not specified	Uncertain significance (Mar 29, 2022)
1-161047899-G-A		not specified	Uncertain significance (Apr 07, 2022)
1-161047980-C-T		not specified	Uncertain significance (Dec 14, 2023)
1-161048087-C-G		not specified	Uncertain significance (Aug 14, 2023)
1-161048113-G-A		not specified	Uncertain significance (Jun 07, 2023)
1-161048178-T-C		not specified	Uncertain significance (Sep 07, 2022)
1-161048217-C-T		not specified	Uncertain significance (Aug 22, 2023)
1-161048253-C-T		not specified	Uncertain significance (Jul 12, 2023)
1-161048284-A-T		not specified	Uncertain significance (Nov 15, 2023)
1-161048296-A-G		not specified	Uncertain significance (Oct 05, 2022)
1-161048310-G-C		not specified	Uncertain significance (Jun 23, 2021)
1-161048368-T-A		not specified	Uncertain significance (Dec 17, 2023)
1-161048400-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-161048406-A-C		not specified	Uncertain significance (Jan 23, 2024)
1-161048509-G-A		not specified	Uncertain significance (Oct 12, 2021)
1-161048529-G-A		not specified	Uncertain significance (Feb 10, 2023)
1-161048584-C-T		not specified	Uncertain significance (Jul 20, 2022)
1-161048602-A-G		not specified	Uncertain significance (Sep 17, 2021)
1-161048772-A-G		not specified	Likely benign (Jan 23, 2024)
1-161048814-T-G		not specified	Uncertain significance (Jul 27, 2022)
1-161048845-C-T		not specified	Uncertain significance (Jun 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP30	protein_coding	protein_coding	ENST00000368013	12	23025

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000105	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.102	635	628	1.01	0.0000356	7096
Missense in Polyphen		162	215.72	0.75098		2223
Synonymous	-0.184	244	240	1.02	0.0000125	2312
Loss of Function	5.56	4	43.7	0.0915	0.00000231	525

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000132	0.000123
Middle Eastern	0.000326	0.000326
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GTPase-activating protein (GAP) for RAC1 and RHOA, but not for CDC42. {ECO:0000269|PubMed:21565175}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Intolerance Scores

• loftool: 0.467
• rvis_EVS: -0.97
• rvis_percentile_EVS: 8.98

Haploinsufficiency Scores

• pHI: 0.0565
• hipred: N
• hipred_score: 0.331
• ghis: 0.602

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arhgap30

Gene ontology

• Biological process: small GTPase mediated signal transduction;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
• Cellular component: cytosol;cytoplasmic vesicle;intracellular membrane-bounded organelle
• Molecular function: GTPase activator activity