ARHGAP26

Rho GTPase activating protein 26, the group of AH/BAR family Rho GTPase activating proteins

Basic information

Region (hg38): 5:142770377-143229011

Links

ENSG00000145819 ∙ NCBI:23092 ∙ OMIM:605370 ∙ HGNC:17073 ∙ Uniprot:Q9UNA1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• juvenile myelomonocytic leukemia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARHGAP26 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGAP26 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				3	4	7
missense			24	3		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding				2	2	4
Total	0	0	24	8	6

Variants in ARHGAP26

This is a list of pathogenic ClinVar variants found in the ARHGAP26 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-142770820-A-G		not specified	Uncertain significance (Apr 13, 2022)
5-142771377-T-C		ARHGAP26-related disorder	Benign (May 10, 2019)
5-142873418-G-T		not specified	Uncertain significance (Apr 19, 2023)
5-142873468-G-A		not specified	Uncertain significance (Jan 02, 2024)
5-142875114-A-G		ARHGAP26-related disorder	Benign (Oct 17, 2019)
5-142875166-C-T		not specified	not provided (Sep 19, 2013)
5-142879388-C-T			Benign (Jul 05, 2018)
5-142879389-G-A		not specified	Uncertain significance (May 31, 2023)
5-142885343-A-G		not specified	Uncertain significance (Jun 27, 2022)
5-142885406-G-A		ARHGAP26-related disorder	Likely benign (Sep 18, 2019)
5-142901928-A-G			Benign (Jan 24, 2018)
5-142902018-G-C		not specified	Uncertain significance (Oct 25, 2023)
5-142902029-G-A		not specified	Uncertain significance (Nov 09, 2021)
5-142907803-G-A		not specified	Uncertain significance (Dec 09, 2023)
5-142913280-G-A		not specified	Uncertain significance (Feb 03, 2023)
5-142913290-A-G		not specified	Uncertain significance (Mar 15, 2024)
5-142932125-T-C		not specified	not provided (Sep 19, 2013)
5-143037211-G-A		not specified	Uncertain significance (Nov 30, 2021)
5-143041850-T-G		ARHGAP26-related disorder	Benign (Oct 17, 2019)
5-143041850-T-GTGGGG		not specified	not provided (Sep 19, 2013)
5-143041855-A-G		Juvenile myelomonocytic leukemia	Pathogenic (Aug 01, 2000)
5-143041899-C-T		ARHGAP26-related disorder	Likely benign (Jun 10, 2019)
5-143054469-A-G		not specified	Uncertain significance (Dec 17, 2021)
5-143057651-A-G		not specified	Uncertain significance (Apr 17, 2024)
5-143121005-A-G		not specified	Uncertain significance (Apr 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGAP26	protein_coding	protein_coding	ENST00000274498	23	458628

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00339	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.11	329	456	0.721	0.0000250	5384
Missense in Polyphen		14	40.278	0.34758		466
Synonymous	1.67	144	172	0.838	0.00000985	1484
Loss of Function	5.45	7	47.6	0.147	0.00000244	565

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.00104	0.00103
Finnish	0.00	0.00
European (Non-Finnish)	0.0000629	0.0000527
Middle Eastern	0.00104	0.00103
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GTPase-activating protein for RHOA and CDC42.
• Disease: DISEASE: Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal translocation t(5;11)(q31;q23) with KMT2A/MLL1 has been found in leukemic cells from JMML patients, also carrying inactivating mutations on the second allele (PubMed:10908648). {ECO:0000269|PubMed:10908648}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases;Signaling events mediated by focal adhesion kinase (Consensus)

Recessive Scores

• pRec: 0.361

Intolerance Scores

• loftool: 0.452
• rvis_EVS: -0.87
• rvis_percentile_EVS: 10.73

Haploinsufficiency Scores

• pHI: 0.369
• hipred: Y
• hipred_score: 0.613
• ghis: 0.574

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.560

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Arhgap26
• Phenotype: muscle phenotype

Gene ontology

• Biological process: signal transduction;nervous system development;actin cytoskeleton organization;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
• Cellular component: cellular_component;cytosol;cytoskeleton;focal adhesion
• Molecular function: GTPase activator activity;protein binding;phospholipid binding