ARHGEF37

Rho guanine nucleotide exchange factor 37, the group of BAR and Dbl domain containing|Dbl family Rho GEFs

Basic information

Region (hg38): 5:149551946-149634968

Links

ENSG00000183111 ∙ NCBI:389337 ∙ ∙ HGNC:34430 ∙ Uniprot:A1IGU5 ∙ 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 ARHGEF37 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGEF37 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		3
missense			40	2		42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	5	0

Variants in ARHGEF37

This is a list of pathogenic ClinVar variants found in the ARHGEF37 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-149597846-G-A		not specified	Likely benign (Oct 17, 2023)
5-149597849-C-T		not specified	Uncertain significance (Dec 05, 2022)
5-149597857-C-T		not specified	Uncertain significance (Nov 20, 2023)
5-149597870-C-G		not specified	Uncertain significance (Sep 16, 2021)
5-149597881-C-T		not specified	Uncertain significance (Jan 22, 2024)
5-149597944-C-T		not specified	Uncertain significance (Jan 23, 2024)
5-149601112-C-T		not specified	Uncertain significance (Jun 05, 2023)
5-149601117-G-A		not specified	Uncertain significance (Dec 05, 2022)
5-149601204-A-C		not specified	Uncertain significance (Mar 11, 2022)
5-149609553-A-G		not specified	Uncertain significance (Feb 17, 2023)
5-149609655-G-A		not specified	Uncertain significance (Apr 18, 2023)
5-149609658-C-G		not specified	Uncertain significance (Oct 26, 2022)
5-149616754-C-T		not specified	Uncertain significance (Jan 16, 2024)
5-149616755-G-A		not specified	Uncertain significance (Dec 05, 2022)
5-149618186-C-T		not specified	Likely benign (Feb 13, 2024)
5-149618193-G-A		not specified	Uncertain significance (Jun 27, 2023)
5-149618239-A-G		not specified	Uncertain significance (Apr 24, 2024)
5-149618262-C-T		not specified	Uncertain significance (Oct 13, 2023)
5-149618296-T-G		not specified	Uncertain significance (May 24, 2023)
5-149618947-A-G		not specified	Uncertain significance (Feb 28, 2023)
5-149618951-A-G		not specified	Uncertain significance (Nov 13, 2023)
5-149620377-C-T			Likely benign (Mar 01, 2023)
5-149620381-T-C		not specified	Uncertain significance (Jun 24, 2022)
5-149620442-A-C		not specified	Uncertain significance (Nov 14, 2023)
5-149621745-G-A		not specified	Uncertain significance (Jan 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGEF37	protein_coding	protein_coding	ENST00000333677	12	83022

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.14e-13	0.369	123336	9	1479	124824	0.00598

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.271	372	387	0.961	0.0000221	4349
Missense in Polyphen		106	112.83	0.9395		1403
Synonymous	2.07	133	167	0.796	0.00000963	1388
Loss of Function	1.25	23	30.4	0.755	0.00000138	348

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00461	0.00461
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000731	0.000723
Finnish	0.0162	0.0161
European (Non-Finnish)	0.00818	0.00813
Middle Eastern	0.000731	0.000723
South Asian	0.00106	0.00105
Other	0.00661	0.00661

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a guanine nucleotide exchange factor (GEF). {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: 1.18
• rvis_percentile_EVS: 92.83

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.170
• ghis: 0.505

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	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Arhgef37

Gene ontology

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