EEF1AKMT4-ECE2

EEF1AKMT4-ECE2 readthrough

Basic information

Region (hg38): 3:184249694-184293031

Links

ENSG00000284917 ∙ NCBI:110599583 ∙ ∙ HGNC:53615 ∙ Uniprot:P0DPD8 ∙ 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 EEF1AKMT4-ECE2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EEF1AKMT4-ECE2 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				2	2	4
missense			57	5	2	64
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	59	7	4

Variants in EEF1AKMT4-ECE2

This is a list of pathogenic ClinVar variants found in the EEF1AKMT4-ECE2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-184249698-G-A		not specified	Uncertain significance (May 14, 2024)
3-184249707-G-A		not specified	Uncertain significance (Oct 02, 2023)
3-184249713-G-A		not specified	Uncertain significance (Feb 16, 2023)
3-184249729-A-G		not specified	Uncertain significance (Nov 08, 2022)
3-184249747-G-A		not specified	Uncertain significance (Jun 11, 2024)
3-184249753-A-G		not specified	Uncertain significance (Aug 15, 2023)
3-184249764-G-C		not specified	Likely benign (Apr 05, 2023)
3-184249810-A-G		not specified	Uncertain significance (Aug 15, 2023)
3-184257499-G-A		not specified	Uncertain significance (Oct 26, 2022)
3-184257553-G-A		not specified	Uncertain significance (Oct 18, 2021)
3-184257574-C-T		not specified	Uncertain significance (Feb 21, 2024)
3-184257633-C-G		not specified	Uncertain significance (Aug 04, 2022)
3-184257656-T-C			Benign (Jul 06, 2018)
3-184257673-C-A		not specified	Uncertain significance (Jun 03, 2022)
3-184257676-G-C		not specified	Uncertain significance (Feb 16, 2023)
3-184257698-G-A		not specified	Likely benign (Jan 10, 2023)
3-184261182-G-T		not specified	Uncertain significance (May 05, 2023)
3-184261264-T-C		not specified	Uncertain significance (Nov 22, 2023)
3-184276980-C-T		not specified	Uncertain significance (Dec 02, 2022)
3-184276991-G-A		not specified	Uncertain significance (May 06, 2024)
3-184277016-A-G		not specified	Uncertain significance (Aug 02, 2023)
3-184277323-G-A		not specified	Uncertain significance (Jun 29, 2023)
3-184277340-G-A		not specified	Uncertain significance (Jan 31, 2022)
3-184277376-C-T		not specified	Uncertain significance (Dec 21, 2023)
3-184277377-G-A		not specified	Uncertain significance (Jan 22, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Converts big endothelin-1 to endothelin-1. May also have methyltransferase activity (By similarity). May play a role in amyloid-beta processing (By similarity). {ECO:0000250|UniProtKB:P0DPD9, ECO:0000250|UniProtKB:P0DPE2}.
• Pathway: Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding (Consensus)

Gene ontology

• Biological process: peptide hormone processing;methylation
• Cellular component: Golgi membrane;integral component of membrane;transport vesicle membrane
• Molecular function: metalloendopeptidase activity;methyltransferase activity;metal ion binding