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.

not_specified (69 variants)
ARHGAP26-related_disorder (7 variants)
not_provided (3 variants)
Juvenile_myelomonocytic_leukemia (1 variants)

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. These statistics are base on transcript: NM_001135608.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	4 clinvar	2 clinvar	8
missense			59 clinvar	3 clinvar		62
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	7	2

Loading clinvar variants...

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