STX16-NPEPL1

ncRNA

STX16-NPEPL1 readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring syntaxin 16 (STX16) and aminopeptidase-like 1 (NPEPL1) genes on chromosome 20. 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:3B:2

Top phenotype

Pseudohypoparathyroidism type 1B

Max pathogenic AF

—

Genomic locus

chr20:58,651,434-58,715,410

External References & Databases

Ensembl (ENSG00000254995)

NCBI Gene (100534593)

HGNC:41993

GenCC

ClinVar (STX16-NPEPL1)

Transcript & Mutation Effects

hg38 • Region Span ~64.0 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 STX16-NPEPL1 variants in ClinVar

6 Conditions Cataloged

Pseudohypoparathyroidism type 1BTotal: 117

not providedTotal: 64

Inborn genetic diseasesTotal: 35

Autosomal dominant pseudohypoaldosteronism type 1Total: 8

not specifiedTotal: 2

STX16-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)			3 clinvar		2 clinvar	5
Total	0	0	3	0	2	5

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
ENST00000530122.1	Ensembl	ENSP00000457522.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

intracellular protein transport
vesicle fusion
vesicle docking

Molecular Function

SNARE binding
SNAP receptor activity

Cellular Component

endomembrane system
integral component of membrane
SNARE complex

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Indispensability pred.: N
Indispensability score: 0.114