EEF1E1-BLOC1S5

ncRNA

EEF1E1-BLOC1S5 readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) and MUTED (muted homolog) genes on chromosome 6. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Dec 2010]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:1

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr6:8,015,726-8,102,530

External References & Databases

Ensembl (ENSG00000265818)

NCBI Gene (100526837)

HGNC:49187

GenCC

ClinVar (EEF1E1-BLOC1S5)

Transcript & Mutation Effects

hg38 • Region Span ~86.8 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 EEF1E1-BLOC1S5 variants in ClinVar

5 Conditions Cataloged

Inborn genetic diseasesTotal: 11

Hermansky-Pudlak syndrome 11Total: 2

not providedTotal: 1

Hermansky-Pudlak syndromeTotal: 1

BLOC1S5-related conditionTotal: 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)		1 clinvar				1
Total	0	1	0	0	0	1

Highest pathogenic variant AF is 0.0000131441

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 1 of 1 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000397456.2	Ensembl	ENSP00000380597.2	4	Standard

dbNSFP Gene Annotations

Source: dbNSFP