PPT2-EGFL8

ncRNA

PPT2-EGFL8 readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring PPT2 (palmitoyl-protein thioesterase 2) and EGFL8 (EGF-like-domain, multiple 8) genes located in the major histocompatibility complex class III region of chromosome 6. 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, Feb 2011]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:3B:1

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr6:32,153,845-32,171,978

External References & Databases

Ensembl (ENSG00000258388)

NCBI Gene (100532746)

Transcript & Mutation Effects

hg38 • Region Span ~18.1 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 PPT2-EGFL8 variants in ClinVar

3 Conditions Cataloged

Inborn genetic diseasesTotal: 26

not specifiedTotal: 1

not providedTotal: 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar	1 clinvar		4
Total	0	0	3	1	0	4

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000421600.2	Ensembl	ENSP00000455023.2	5	Standard
ENST00000422437.5	Ensembl	ENSP00000457534.1	9	Standard
ENST00000428388.6	Ensembl	ENSP00000455087.1	9	Standard
ENST00000583227.5	Ensembl	ENSP00000461909.1	3	Standard

dbNSFP Gene Annotations

Source: dbNSFP

Gene Damage Prediction

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