LARGE-AS1

gene
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Summary

LARGE-AS1 (LARGE antisense RNA 1, HGNC:40336) is a long non-coding RNA gene on chromosome 22q12.3.

At a glance

  • Gene type: non-coding (lncRNA) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:40336
Approved symbolLARGE-AS1
NameLARGE antisense RNA 1
Location22q12.3
Locus typeRNA, long non-coding
StatusApproved
Ensembl geneENSG00000224973
Ensembl biotypelncRNA
Entrez100506195
RNAcentralURS000075A914 — lncRNA, 2775 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 16 lncRNA, 1 retained_intron

ENST00000416275, ENST00000424291, ENST00000438159, ENST00000445892, ENST00000448275, ENST00000450974, ENST00000453336, ENST00000661135, ENST00000663088, ENST00000664675, ENST00000718600, ENST00000718601, ENST00000718602, ENST00000718603, ENST00000718604, ENST00000718605, ENST00000718606

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000416275 — 3 exons

ExonStartEnd
ENSE000016044463374412933744328
ENSE000016851983375060433750683
ENSE000017582803374767033747824

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 93.88.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0250 / max 21.6521, expressed in 3 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
1919460.01443
1919450.00653
1919440.00413

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spermCL:000001993.88gold quality
left testisUBERON:000453388.00gold quality
right testisUBERON:000453486.65gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047386.22gold quality
testisUBERON:000047385.34gold quality
buccal mucosa cellCL:000233677.84gold quality
colonic epitheliumUBERON:000039773.31gold quality
cortical plateUBERON:000534371.39gold quality
bone marrow cellCL:000209270.12gold quality
sural nerveUBERON:001548868.74gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099164.15gold quality
oviduct epitheliumUBERON:000480463.09gold quality
endothelial cellCL:000011563.06gold quality
calcaneal tendonUBERON:000370162.50gold quality
tendon of biceps brachiiUBERON:000818862.40gold quality
biceps brachiiUBERON:000150762.30gold quality
tendonUBERON:000004361.90gold quality
ganglionic eminenceUBERON:000402361.89gold quality
nasal cavity epitheliumUBERON:000538461.41gold quality
hindlimb stylopod muscleUBERON:000425259.06gold quality
cartilage tissueUBERON:000241857.77gold quality
adult organismUBERON:000702357.51gold quality
corpus callosumUBERON:000233657.29gold quality
muscle tissueUBERON:000238556.89silver quality
skeletal muscle tissueUBERON:000113456.73silver quality
adrenal tissueUBERON:001830356.07gold quality
deltoidUBERON:000147656.02gold quality
gall bladderUBERON:000211055.16gold quality
monocyteCL:000057654.52gold quality
islet of LangerhansUBERON:000000654.19gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no3.72

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): skeletal dysplasia