GAD1-AS1

Summary

GAD1-AS1 (GAD1 antisense RNA 1, HGNC:40250) is a long non-coding RNA gene on chromosome 2q31.1.

At a glance

• Clinical variants (ClinVar): 1 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:40250
Approved symbol	GAD1-AS1
Name	GAD1 antisense RNA 1
Location	2q31.1
Locus type	RNA, long non-coding
Status	Approved
Aliases	AC007405.2
Ensembl gene	ENSG00000235934
Entrez	137805480

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 101 present calls, max score 72.38.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	72.38	silver quality
nucleus accumbens	UBERON:0001882	69.23	gold quality
cortical plate	UBERON:0005343	67.47	gold quality
superior frontal gyrus	UBERON:0002661	66.92	gold quality
putamen	UBERON:0001874	66.54	gold quality
ganglionic eminence	UBERON:0004023	66.12	gold quality
prefrontal cortex	UBERON:0000451	64.70	gold quality
caudate nucleus	UBERON:0001873	64.70	gold quality
hypothalamus	UBERON:0001898	62.73	gold quality
frontal cortex	UBERON:0001870	62.72	gold quality
anterior cingulate cortex	UBERON:0009835	61.89	gold quality
right hemisphere of cerebellum	UBERON:0014890	61.70	gold quality
ventricular zone	UBERON:0003053	61.32	gold quality
brain	UBERON:0000955	61.14	gold quality
cerebral cortex	UBERON:0000956	60.38	gold quality
bone marrow	UBERON:0002371	59.96	gold quality
cerebellum	UBERON:0002037	59.84	gold quality
cerebellar cortex	UBERON:0002129	59.79	gold quality
cerebellar hemisphere	UBERON:0002245	59.71	gold quality
amygdala	UBERON:0001876	59.63	gold quality
temporal lobe	UBERON:0001871	59.56	gold quality
right frontal lobe	UBERON:0002810	59.51	gold quality
primary visual cortex	UBERON:0002436	58.86	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	58.16	gold quality
popliteal artery	UBERON:0002250	57.85	gold quality
tibial artery	UBERON:0007610	57.82	gold quality
Brodmann (1909) area 9	UBERON:0013540	57.48	gold quality
ascending aorta	UBERON:0001496	57.00	gold quality
thoracic aorta	UBERON:0001515	56.85	gold quality
Ammon’s horn	UBERON:0001954	56.48	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.70

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

Disease associations

OMIM: gene `` | disease phenotypes: MIM:603513, MIM:619026

GenCC curated gene-disease

Mondo (1): neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (MONDO:0033613)

Orphanet (2): Inherited congenital spastic tetraplegia (Orphanet:210141), Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome (Orphanet:641353)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C567853	Cerebral Palsy, Spastic Quadriplegic, 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

Clinical trials (associated diseases)

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