ARHGAP36

Rho GTPase activating protein 36, the group of Rho GTPase activating proteins

Basic information

Region (hg38): X:131058346-131089885

Links

ENSG00000147256 ∙ NCBI:158763 ∙ OMIM:300937 ∙ HGNC:26388 ∙ Uniprot:Q6ZRI8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Bazex-Dupre-Christol syndrome	XL	Oncologic	The condition involves increased risk of basal cell neoplasms, and awareness can allow early identification and management	Dermatologic; Oncologic	35986704
The condition results from small intergenic duplications resulting in ARHGAP36 overexpression

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARHGAP36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP36 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			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	22	2	0

Variants in ARHGAP36

This is a list of pathogenic ClinVar variants found in the ARHGAP36 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-131081697-C-A		not specified	Uncertain significance (Dec 01, 2022)
X-131081703-C-T		not specified	Uncertain significance (Apr 22, 2022)
X-131081777-G-C		not specified	Uncertain significance (Sep 14, 2023)
X-131081798-C-A		not specified	Uncertain significance (Apr 13, 2023)
X-131081805-C-T		not specified	Uncertain significance (Sep 06, 2022)
X-131081832-C-G		not specified	Uncertain significance (Nov 17, 2022)
X-131083194-G-A		not specified	Uncertain significance (Oct 10, 2023)
X-131083199-G-C		not specified	Uncertain significance (Aug 08, 2022)
X-131083880-C-G		not specified	Uncertain significance (Mar 17, 2023)
X-131083961-G-T		not specified	Uncertain significance (Jan 30, 2024)
X-131084258-C-A		not specified	Uncertain significance (Mar 29, 2022)
X-131084258-C-T		not specified	Uncertain significance (Jan 08, 2024)
X-131084303-T-C		not specified	Uncertain significance (Feb 14, 2024)
X-131084374-G-A		not specified	Uncertain significance (Nov 08, 2022)
X-131084640-G-C		not specified	Uncertain significance (May 02, 2024)
X-131084993-A-G			Uncertain significance (Apr 01, 2018)
X-131085687-A-G		not specified	Uncertain significance (Oct 03, 2022)
X-131086055-G-A		not specified	Uncertain significance (Nov 22, 2021)
X-131086332-C-G		not specified	Uncertain significance (Oct 17, 2023)
X-131086361-G-C		not specified	Uncertain significance (Dec 01, 2022)
X-131086635-G-A		not specified	Uncertain significance (Oct 03, 2022)
X-131088709-C-T		not specified	Likely benign (Dec 16, 2022)
X-131088720-C-A		not specified	Uncertain significance (Mar 03, 2022)
X-131088720-C-T			Likely benign (Dec 01, 2023)
X-131088741-C-T		not specified	Uncertain significance (Jan 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP36	protein_coding	protein_coding	ENST00000276211	11	31642

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.873	0.127	125738	1	3	125742	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.19	172	222	0.776	0.0000168	3547
Missense in Polyphen		50	89.229	0.56036		1432
Synonymous	1.42	67	83.5	0.803	0.00000595	1137
Loss of Function	3.18	2	15.5	0.129	9.86e-7	279

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000144	0.000109
Finnish	0.000125	0.0000924
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000144	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {ECO:0000250}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Intolerance Scores

• loftool: 0.149
• rvis_EVS: -0.76
• rvis_percentile_EVS: 13.33

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.677
• ghis: 0.584

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	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Arhgap36

Gene ontology

• Biological process: signal transduction;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
• Cellular component: cytosol
• Molecular function: GTPase activator activity