ARHGEF33

Rho guanine nucleotide exchange factor 33, the group of Dbl family Rho GEFs

Basic information

Region (hg38): 2:38889875-38975454

Links

ENSG00000214694 ∙ NCBI:100271715 ∙ ∙ HGNC:37252 ∙ Uniprot:A8MVX0 ∙ 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 ARHGEF33 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGEF33 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			47	1		48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2		2
Total	0	0	47	3	0

Variants in ARHGEF33

This is a list of pathogenic ClinVar variants found in the ARHGEF33 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-38919458-C-A		not specified	Uncertain significance (Sep 27, 2021)
2-38919458-C-G		not specified	Uncertain significance (May 13, 2024)
2-38919464-C-G		not specified	Uncertain significance (Mar 21, 2023)
2-38921415-A-T		not specified	Uncertain significance (Aug 02, 2022)
2-38928994-G-A		not specified	Uncertain significance (Jan 26, 2022)
2-38929069-A-C		not specified	Uncertain significance (Feb 28, 2023)
2-38929743-C-A		not specified	Uncertain significance (Apr 20, 2023)
2-38929821-T-C		not specified	Uncertain significance (Jun 24, 2022)
2-38931114-C-T		not specified	Uncertain significance (Feb 26, 2024)
2-38931131-A-G		not specified	Likely benign (May 24, 2024)
2-38931133-C-G		not specified	Uncertain significance (Oct 25, 2022)
2-38931222-A-G		not specified	Uncertain significance (May 17, 2023)
2-38931234-C-T		not specified	Uncertain significance (Apr 08, 2024)
2-38935823-T-A		not specified	Uncertain significance (Jan 10, 2022)
2-38937386-C-T		not specified	Uncertain significance (Jul 06, 2021)
2-38937401-C-T		not specified	Uncertain significance (May 23, 2023)
2-38937458-G-C		not specified	Uncertain significance (Oct 12, 2022)
2-38937487-G-C		not specified	Uncertain significance (Feb 11, 2022)
2-38943949-A-G		not specified	Uncertain significance (Apr 25, 2022)
2-38943954-A-G		not specified	Uncertain significance (Jul 20, 2021)
2-38944025-G-T		not specified	Uncertain significance (Jun 02, 2023)
2-38944027-G-A		not specified	Uncertain significance (Sep 25, 2023)
2-38950995-C-G		not specified	Uncertain significance (May 28, 2024)
2-38951069-G-C		not specified	Uncertain significance (Apr 12, 2024)
2-38953177-T-C		not specified	Uncertain significance (Jul 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGEF33	protein_coding	protein_coding	ENST00000409978	16	85570

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000776	1.00	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.70	333	433	0.770	0.0000239	5644
Missense in Polyphen		74	124.57	0.59404		1648
Synonymous	0.830	168	182	0.922	0.0000115	1660
Loss of Function	3.58	16	40.6	0.394	0.00000206	526

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a guanine-nucleotide releasing factor. {ECO:0000250}.
• Pathway: Signaling by GPCR;Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases;NRAGE signals death through JNK;Death Receptor Signalling;p75 NTR receptor-mediated signalling;G alpha (12/13) signalling events;GPCR downstream signalling;Cell death signalling via NRAGE, NRIF and NADE (Consensus)

Intolerance Scores

• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.47

Haploinsufficiency Scores

• ghis: 0.432

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Arhgef33

Gene ontology

• Biological process: regulation of Rho protein signal transduction
• Molecular function: Rho guanyl-nucleotide exchange factor activity