APOC4-APOC2

APOC4-APOC2 readthrough (NMD candidate)

Basic information

Region (hg38): 19:44942238-44949565

Links

ENSG00000224916

∙ NCBI:100533990 ∙ ∙ HGNC:44426 ∙ ∙ ∙ 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 APOC4-APOC2 gene.

not provided (42 variants)
Cardiovascular phenotype (39 variants)
Familial apolipoprotein C-II deficiency (36 variants)
Inborn genetic diseases (10 variants)
not specified (4 variants)
Apolipoprotein c-ii variant (1 variants)
APOLIPOPROTEIN C-II (WAKAYAMA) (1 variants)
APOLIPOPROTEIN C-II (TORONTO) (1 variants)
APOLIPOPROTEIN C-II (PARIS) (1 variants)
APOLIPOPROTEIN C-II (PADOVA) (1 variants)
APOLIPOPROTEIN C-II (BARI) (1 variants)
APOLIPOPROTEIN C-II (ST. MICHAEL) (1 variants)
APOLIPOPROTEIN C-II (AUCKLAND) (1 variants)
APOLIPOPROTEIN C-II (SAN FRANCISCO) (1 variants)
APOLIPOPROTEIN C-II (HAMBURG) (1 variants)
APOLIPOPROTEIN C-II (AFRICAN) (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the APOC4-APOC2 gene is commonly pathogenic or not. These statistics are base on transcript: . 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				19 clinvar		19
missense	2 clinvar		24 clinvar	8 clinvar		34
nonsense	5 clinvar	1 clinvar				6
start loss						0
frameshift	5 clinvar					5
splice donor/acceptor (+/-2bp)	1 clinvar		2 clinvar	1 clinvar	1 clinvar	5
Total	13	1	26	28	1

Highest pathogenic variant AF is 0.0000328537

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis: 0.394

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

Biological process: lipid metabolic process;lipid transport;positive regulation of catalytic activity
Cellular component: chylomicron
Molecular function: enzyme activator activity