SENP3-EIF4A1

ncRNA

SENP3-EIF4A1 readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3) and eukaryotic translation initiation factor 4A1 (EIF4A1) genes on chromosome 17. 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

U:1

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr17:7,563,287-7,578,715

External References & Databases

Ensembl (ENSG00000277957)

NCBI Gene (100533955)

HGNC:49182

GenCC

ClinVar (SENP3-EIF4A1)

Transcript & Mutation Effects

hg38 • Region Span ~15.4 kb

Loading mutation effect viewer...

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 SENP3-EIF4A1 variants in ClinVar

5 Conditions Cataloged

Inborn genetic diseasesTotal: 16

not providedTotal: 1

Myoepithelial tumorTotal: 1

Autism spectrum disorderTotal: 1

See casesTotal: 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	0	1	0	0	1

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
ENST00000614237.1	Ensembl	ENSP00000483614.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein desumoylation

Molecular Function

cysteine-type peptidase activity

Cellular Component

nucleus
MLL1 complex

dbNSFP Gene Annotations

Source: dbNSFP