ECT2L

epithelial cell transforming 2 like, the group of Dbl family Rho GEFs|F-boxes other

Basic information

Region (hg38): 6:138795911-138904070

Previous symbols: [ "C6orf91" ]

Links

ENSG00000203734NCBI:345930HGNC:21118Uniprot:Q008S8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ECT2L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ECT2L 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
48
clinvar
2
clinvar
50
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 48 2 0

Variants in ECT2L

This is a list of pathogenic ClinVar variants found in the ECT2L region.

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

Position Type Phenotype Significance ClinVar
6-138813286-C-A not specified not provided (Sep 19, 2013)134001
6-138813326-T-C not specified Uncertain significance (May 24, 2023)2523871
6-138814569-G-A not specified not provided (Sep 19, 2013)134005
6-138838432-T-C not specified Uncertain significance (Jun 29, 2023)2608404
6-138838435-A-G not specified Uncertain significance (Jun 29, 2023)2607361
6-138838444-C-T not specified not provided (Sep 19, 2013)134006
6-138843003-G-A not specified Likely benign (Dec 04, 2023)3087107
6-138843018-T-C not specified Uncertain significance (Dec 14, 2023)3087108
6-138843073-T-C not specified not provided (Sep 19, 2013)134008
6-138843088-A-G not specified not provided (Sep 19, 2013)134007
6-138843117-G-A not specified Uncertain significance (Aug 02, 2023)2615253
6-138843148-A-G not specified Uncertain significance (Apr 22, 2022)2285058
6-138844430-G-A not specified not provided (Sep 19, 2013)134010
6-138844465-G-A not specified not provided (Sep 19, 2013)134011
6-138844509-G-C not specified Uncertain significance (Oct 06, 2021)3087109
6-138844529-A-C not specified not provided (Sep 19, 2013)134009
6-138844559-C-T not specified Uncertain significance (Nov 17, 2022)2343768
6-138846586-A-G not specified Uncertain significance (Jun 29, 2023)2589861
6-138846609-G-T not specified Uncertain significance (Jun 07, 2022)2229574
6-138846613-A-G not specified not provided (Sep 19, 2013)134012
6-138846633-C-T not specified Uncertain significance (Oct 06, 2021)3087110
6-138846650-A-C not specified Uncertain significance (Dec 20, 2021)2348343
6-138846654-T-C not specified Uncertain significance (May 26, 2024)3274463
6-138846661-G-A not specified Uncertain significance (Nov 10, 2022)2379944
6-138849275-A-G not specified not provided (Sep 19, 2013)134014

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ECT2Lprotein_codingprotein_codingENST00000423192 20108145
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
7.80e-481.11e-91220723926831247940.0110
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1114624690.9860.00002395926
Missense in Polyphen118127.010.929041642
Synonymous-0.02461781781.000.000009741667
Loss of Function-1.496553.31.220.00000270630

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.03010.0301
Ashkenazi Jewish0.005280.00528
East Asian0.03150.0302
Finnish0.004610.00456
European (Non-Finnish)0.006390.00636
Middle Eastern0.03150.0302
South Asian0.02360.0229
Other0.007810.00778

dbNSFP

Source: dbNSFP

Function
FUNCTION: May act as a guanine nucleotide exchange factor (GEF). {ECO:0000250}.;

Intolerance Scores

loftool
0.982
rvis_EVS
2.85
rvis_percentile_EVS
99.12

Haploinsufficiency Scores

pHI
0.138
hipred
N
hipred_score
0.229
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ect2l
Phenotype

Gene ontology

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