NPPA-AS1

Summary

NPPA-AS1 (NPPA antisense RNA 1, HGNC:37635) is a long non-coding RNA gene on chromosome 1p36.21.

Predicted to enable mRNA binding activity. Predicted to be involved in regulation of gene expression.

Source: NCBI Gene 100379251 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 10 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37635
Approved symbol	NPPA-AS1
Name	NPPA antisense RNA 1
Location	1p36.21
Locus type	RNA, long non-coding
Status	Approved
Ensembl gene	ENSG00000242349
Entrez	100379251
RNAcentral	URS000075D3D8 — lncRNA, 1662 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0694 / max 87.1761, expressed in 9 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
650	0.0694	9

Top tissues by expression

0 total, by Bgee expression score (0-100, higher = more expressed):

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

10 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001048728 (1:11844483 C>T), RS1002204004 (1:11842443 G>A,T), RS1002409941 (1:11843964 C>A,G,T), RS1002743608 (1:11842684 G>C), RS1003205149 (1:11841473 C>T), RS1003357016 (1:11847930 G>A,T), RS1003736245 (1:11846460 A>G), RS1004116696 (1:11844561 A>G), RS1004143376 (1:11847776 C>G,T), RS1004788571 (1:11843411 A>C,G), RS1005069926 (1:11843230 C>T), RS1005070950 (1:11843417 C>T), RS1005077877 (1:11839533 A>C), RS1005191711 (1:11847108 C>G), RS1005449974 (1:11846139 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:612201, MIM:615745

GenCC curated gene-disease

Mondo (2): atrial fibrillation, familial, 6 (MONDO:0012816), atrial standstill 2 (MONDO:0014329)

Orphanet (1): Isolated atrial standstill (Orphanet:1344)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST90002392_149	Mean corpuscular volume	1.000000e-20
GCST90002396_112	Mean reticulocyte volume	1.000000e-11
GCST90020028_656	Hip circumference adjusted for BMI	5.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0010701	mean reticulocyte volume
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567400	Atrial Fibrillation, Familial, 6 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs5063	Efficacy	3	bumetanide;furosemide;torasemide

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs5063	NPPA, NPPA-AS1	3	1.75	1	bumetanide;furosemide;torasemide
rs5065	CLCN6, NPPA, NPPA-AS1	3	2.00	1	amlodipine;chlorthalidone

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
GSK-J4	decreases expression	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Particulate Matter	decreases expression	1
Magnetite Nanoparticles	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.