ECT2L

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

Basic information

Region (hg38): 6:138795910-138904070

Previous symbols: [ "C6orf91" ]

Links

ENSG00000203734 ∙ NCBI:345930 ∙ ∙ HGNC:21118 ∙ Uniprot:Q008S8 ∙ 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 ECT2L gene.

• Inborn genetic diseases (39 variants)
• not specified (33 variants)
• not provided (1 variants)

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			39	1		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	1	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)
6-138813326-T-C		not specified	Uncertain significance (May 24, 2023)
6-138814569-G-A		not specified	not provided (Sep 19, 2013)
6-138838432-T-C		not specified	Uncertain significance (Jun 29, 2023)
6-138838435-A-G		not specified	Uncertain significance (Jun 29, 2023)
6-138838444-C-T		not specified	not provided (Sep 19, 2013)
6-138843003-G-A		not specified	Likely benign (Dec 04, 2023)
6-138843018-T-C		not specified	Uncertain significance (Dec 14, 2023)
6-138843073-T-C		not specified	not provided (Sep 19, 2013)
6-138843088-A-G		not specified	not provided (Sep 19, 2013)
6-138843117-G-A		not specified	Uncertain significance (Aug 02, 2023)
6-138843148-A-G		not specified	Uncertain significance (Apr 22, 2022)
6-138844430-G-A		not specified	not provided (Sep 19, 2013)
6-138844465-G-A		not specified	not provided (Sep 19, 2013)
6-138844509-G-C		not specified	Uncertain significance (Oct 06, 2021)
6-138844529-A-C		not specified	not provided (Sep 19, 2013)
6-138844559-C-T		not specified	Uncertain significance (Nov 17, 2022)
6-138846586-A-G		not specified	Uncertain significance (Jun 29, 2023)
6-138846609-G-T		not specified	Uncertain significance (Jun 07, 2022)
6-138846613-A-G		not specified	not provided (Sep 19, 2013)
6-138846633-C-T		not specified	Uncertain significance (Oct 06, 2021)
6-138846650-A-C		not specified	Uncertain significance (Dec 20, 2021)
6-138846661-G-A		not specified	Uncertain significance (Nov 10, 2022)
6-138849275-A-G		not specified	not provided (Sep 19, 2013)
6-138849323-GT-AC		not specified	not provided (Sep 19, 2013)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ECT2L	protein_coding	protein_coding	ENST00000423192	20	108145

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.80e-48	1.11e-9	122072	39	2683	124794	0.0110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.111	462	469	0.986	0.0000239	5926
Missense in Polyphen		118	127.01	0.92904		1642
Synonymous	-0.0246	178	178	1.00	0.00000974	1667
Loss of Function	-1.49	65	53.3	1.22	0.00000270	630

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0301	0.0301
Ashkenazi Jewish	0.00528	0.00528
East Asian	0.0315	0.0302
Finnish	0.00461	0.00456
European (Non-Finnish)	0.00639	0.00636
Middle Eastern	0.0315	0.0302
South Asian	0.0236	0.0229
Other	0.00781	0.00778

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

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: Ect2l

Gene ontology

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