ARHGEF35

Rho guanine nucleotide exchange factor 35, the group of Dbl family Rho GEFs

Basic information

Region (hg38): 7:144186083-144195879

Previous symbols: [ "ARHGEF5L" ]

Links

ENSG00000213214 ∙ NCBI:445328 ∙ ∙ HGNC:33846 ∙ Uniprot:A5YM69 ∙ 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 ARHGEF35 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGEF35 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				1		1
missense			27	6		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	7	0

Variants in ARHGEF35

This is a list of pathogenic ClinVar variants found in the ARHGEF35 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-144186984-C-T		not specified	Uncertain significance (Sep 29, 2022)
7-144187013-T-C			Likely benign (Sep 01, 2024)
7-144187042-C-T		not specified	Uncertain significance (Feb 17, 2024)
7-144187045-C-T		not specified	Uncertain significance (May 13, 2024)
7-144187054-G-T		not specified	Uncertain significance (Jun 10, 2024)
7-144187075-T-C		not specified	Uncertain significance (Sep 26, 2022)
7-144187099-C-T		not specified	Uncertain significance (Apr 27, 2023)
7-144187100-G-A			Likely benign (Sep 01, 2024)
7-144187123-G-C			Likely benign (Mar 01, 2023)
7-144187138-A-C		not specified	Uncertain significance (Jan 03, 2024)
7-144187165-T-C		not specified	Uncertain significance (Aug 02, 2021)
7-144187189-C-T		not specified	Uncertain significance (Mar 27, 2023)
7-144187242-C-A		not specified	Uncertain significance (Dec 15, 2023)
7-144187251-T-C		not specified	Uncertain significance (Jan 04, 2022)
7-144187269-C-G		not specified	Uncertain significance (Jan 20, 2023)
7-144187438-C-G		not specified	Uncertain significance (Oct 21, 2021)
7-144187510-C-T		not specified	Likely benign (Apr 28, 2022)
7-144187515-C-G		not specified	Uncertain significance (Jan 23, 2024)
7-144187521-C-G		not specified	Uncertain significance (Jun 17, 2024)
7-144187549-C-T		not specified	Uncertain significance (Jun 11, 2021)
7-144187567-T-C		not specified	Uncertain significance (Jun 28, 2023)
7-144187600-T-C		not specified	Uncertain significance (Apr 25, 2022)
7-144187627-C-A		not specified	Uncertain significance (Mar 06, 2023)
7-144187653-C-T		not specified	Uncertain significance (Jul 14, 2021)
7-144187662-C-T		not specified	Likely benign (Jan 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ARHGEF35	protein_coding	protein_coding	ENST00000378115	1	108055

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.677	113	94.5	1.20	0.00000463	3112
Missense in Polyphen		16	14.031	1.1404		541
Synonymous	-0.835	45	38.4	1.17	0.00000212	930
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• 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)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.204
• ghis: 0.471

Essentials

• essential_gene_CRISPR: 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