ARHGAP1

Rho GTPase activating protein 1, the group of Rho GTPase activating proteins|BCH domain containing

Basic information

Region (hg38): 11:46677080-46700619

Links

ENSG00000175220 ∙ NCBI:392 ∙ OMIM:602732 ∙ HGNC:673 ∙ Uniprot:Q07960 ∙ 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 ARHGAP1 gene.

• not_specified (49 variants)
• not_provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004308.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	4	2	7
missense			48	2	1	51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3			3
Total	0	0	52	6	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP1	protein_coding	protein_coding	ENST00000311956	12	23536

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125738	0	9	125747	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	207	264	0.783	0.0000157	2896
Missense in Polyphen		61	92.884	0.65673		1045
Synonymous	0.817	102	113	0.902	0.00000727	837
Loss of Function	3.60	4	22.4	0.179	9.52e-7	265

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000618	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GTPase activator for the Rho, Rac and Cdc42 proteins, converting them to the putatively inactive GDP-bound state. Cdc42 seems to be the preferred substrate.
• Pathway: Signal Transduction;rho cell motility signaling pathway;t cell receptor signaling pathway;rac1 cell motility signaling pathway;Rho GTPase cycle;adp-ribosylation factor;Signaling by Rho GTPases;Regulation of RAC1 activity;Regulation of CDC42 activity (Consensus)

Recessive Scores

• pRec: 0.308

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.57

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.944

Gene Damage Prediction

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

Gene ontology

• Biological process: small GTPase mediated signal transduction;Rho protein signal transduction;positive regulation of signal transduction;endosomal transport;transferrin transport;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction;negative regulation of endocytic recycling
• Cellular component: cytoplasm;cytosol;endosome membrane;perinuclear region of cytoplasm;extracellular exosome;sorting endosome
• Molecular function: SH3/SH2 adaptor activity;GTPase activator activity;protein binding;SH3 domain binding;Rab GTPase binding;cadherin binding