APOC4-APOC2

ncRNA

APOC4-APOC2 readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring apolipoprotein C-IV (APOC4) and apolipoprotein C-II (APOC2) genes on chromosome 19. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:14U:26B:29

Top phenotype

Cardiovascular phenotype

Max pathogenic AF

—

Genomic locus

chr19:44,942,238-44,949,565

External References & Databases

Ensembl (ENSG00000224916)

NCBI Gene (100533990)

HGNC:44426

GenCC

ClinVar (APOC4-APOC2)

Transcript & Mutation Effects

hg38 • Region Span ~7.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to APOC4-APOC2 variants in ClinVar

16 Conditions Cataloged

not providedTotal: 42

Cardiovascular phenotypeTotal: 39

Familial apolipoprotein C-II deficiencyTotal: 36

Inborn genetic diseasesTotal: 10

not specifiedTotal: 4

Apolipoprotein c-ii variantTotal: 1

APOLIPOPROTEIN C-II (WAKAYAMA)Total: 1

APOLIPOPROTEIN C-II (TORONTO)Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	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	69

Highest pathogenic variant AF is 0.0000328537

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000585685.5	Ensembl	ENSP00000467185.1	3	Standard
ENST00000589057.5	Ensembl	ENSP00000468139.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

lipid metabolic process
lipid transport
positive regulation of catalytic activity

Molecular Function

enzyme activator activity

Cellular Component

chylomicron

dbNSFP Gene Annotations

Source: dbNSFP

Gene Damage Prediction

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