ARHGAP27

Rho GTPase activating protein 27, the group of Rho GTPase activating proteins|Pleckstrin homology domain containing

Basic information

Region (hg38): 17:45393901-45434421

Previous symbols: [ "SH3D20" ]

Links

ENSG00000159314 ∙ NCBI:201176 ∙ OMIM:610591 ∙ HGNC:31813 ∙ Uniprot:Q6ZUM4 ∙ 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 ARHGAP27 gene.

• Inborn genetic diseases (32 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP27 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						0
missense			31	2		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	2	0

Variants in ARHGAP27

This is a list of pathogenic ClinVar variants found in the ARHGAP27 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-45395478-G-A		not specified	Uncertain significance (Feb 02, 2022)
17-45395523-A-G		not specified	Uncertain significance (Apr 05, 2023)
17-45395831-C-T		not specified	Likely benign (Jul 14, 2023)
17-45395996-G-T		not specified	Uncertain significance (Feb 10, 2022)
17-45396225-G-C			Uncertain significance (Apr 03, 2020)
17-45396254-C-T		not specified	Uncertain significance (Jun 29, 2023)
17-45396502-C-T		not specified	Likely benign (Apr 22, 2022)
17-45396559-C-T		not specified	Uncertain significance (Nov 08, 2022)
17-45396684-C-G		not specified	Likely benign (Feb 28, 2024)
17-45396740-G-C		not specified	Uncertain significance (Mar 07, 2024)
17-45396782-C-T		not specified	Likely benign (Oct 05, 2023)
17-45396930-G-A		not specified	Likely benign (Dec 08, 2023)
17-45396997-C-G		not specified	Uncertain significance (Jul 14, 2023)
17-45396997-C-T		not specified	Uncertain significance (Jan 16, 2024)
17-45397001-C-G		not specified	Likely benign (Dec 30, 2023)
17-45397011-G-A		not specified	Uncertain significance (Sep 07, 2022)
17-45397986-G-A		not specified	Uncertain significance (May 16, 2023)
17-45398008-C-T		not specified	Uncertain significance (Mar 02, 2023)
17-45398044-G-A		not specified	Uncertain significance (Oct 25, 2023)
17-45402715-T-C		not specified	Uncertain significance (Dec 14, 2023)
17-45404035-C-T		not specified	Uncertain significance (Jan 03, 2024)
17-45404062-C-T		not specified	Uncertain significance (Jan 16, 2024)
17-45404280-C-G		not specified	Uncertain significance (Jul 14, 2021)
17-45404486-C-G		not specified	Uncertain significance (Feb 06, 2023)
17-45404487-C-G		not specified	Uncertain significance (Feb 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP27	protein_coding	protein_coding	ENST00000376922	16	40513

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00121	0.999	125717	0	26	125743	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.65	273	361	0.756	0.0000242	3501
Missense in Polyphen		76	121.87	0.62359		1241
Synonymous	0.172	149	152	0.982	0.0000109	1061
Loss of Function	3.45	11	32.1	0.343	0.00000159	343

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000144	0.000141
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Rho GTPase-activating protein which may be involved in clathrin-mediated endocytosis. GTPase activators for the Rho-type GTPases act by converting them to an inactive GDP-bound state. Has activity toward CDC42 and RAC1 (By similarity). {ECO:0000250}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.0952

Haploinsufficiency Scores

• pHI: 0.175
• hipred: Y
• hipred_score: 0.637
• ghis: 0.485

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arhgap27

Gene ontology

• Biological process: receptor-mediated endocytosis;signal transduction;regulation of GTPase activity;positive regulation of GTPase activity
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;membrane
• Molecular function: GTPase activator activity;SH3 domain binding