GeneBe

ARHGEF10L

Rho guanine nucleotide exchange factor 10 like, the group of Dbl family Rho GEFs

Basic information

Region (hg38): 1:17539698-17697874

Links

ENSG00000074964 ∙ NCBI:55160 ∙ OMIM:612494 ∙ HGNC:25540 ∙ Uniprot:Q9HCE6 ∙ 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 ARHGEF10L gene.

  • not_specified (165 variants)
  • not_provided (12 variants)
  • Teratoma (1 variants)
  • Cerebral_visual_impairment_and_intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARHGEF10L gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018125.4. 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.

EffectPLPVUSLBBSum
synonymous
6
clinvar
3
clinvar
 9
missense
1
clinvar
160
clinvar
4
clinvar
3
clinvar
 168
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 1 160 10 6

Highest pathogenic variant AF is 0.00000616563

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ARHGEF10Lprotein_codingprotein_codingENST00000361221 28158040
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.0004731.001257080401257480.000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.516727910.8490.00005078257
Missense in Polyphen152219.740.691722178
Synonymous-0.3703513421.030.00002402583
Loss of Function5.061860.40.2980.00000286678

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003550.000355
Ashkenazi Jewish0.000.00
East Asian0.0003850.000381
Finnish0.00009280.0000924
European (Non-Finnish)0.0001290.000123
Middle Eastern0.0003850.000381
South Asian0.0002290.000229
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC. {ECO:0000269|PubMed:16112081}.;
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;Regulation of RhoA activity (Consensus)

Recessive Scores

pRec
0.107

Intolerance Scores

loftool
0.569
rvis_EVS
-0.76
rvis_percentile_EVS
13.45

Haploinsufficiency Scores

pHI
0.158
hipred
Y
hipred_score
0.563
ghis
0.503

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.223

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Arhgef10l
Phenotype

Gene ontology

Biological process
actin cytoskeleton organization;SREBP signaling pathway;regulation of Rho protein signal transduction;positive regulation of GTPase activity;positive regulation of stress fiber assembly
Cellular component
cytosol
Molecular function
guanyl-nucleotide exchange factor activity;Rho guanyl-nucleotide exchange factor activity;GTPase activator activity