LARGE-AS1
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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
| Field | Value |
|---|---|
| HGNC ID | HGNC:40336 |
| Approved symbol | LARGE-AS1 |
| Name | LARGE antisense RNA 1 |
| Location | 22q12.3 |
| Locus type | RNA, long non-coding |
| Status | Approved |
| Ensembl gene | ENSG00000224973 |
| Ensembl biotype | lncRNA |
| Entrez | 100506195 |
| RNAcentral | URS000075A914 — 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
| Exon | Start | End |
|---|---|---|
| ENSE00001604446 | 33744129 | 33744328 |
| ENSE00001685198 | 33750604 | 33750683 |
| ENSE00001758280 | 33747670 | 33747824 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 191946 | 0.0144 | 3 |
| 191945 | 0.0065 | 3 |
| 191944 | 0.0041 | 3 |
Top tissues by expression
226 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 93.88 | gold quality |
| left testis | UBERON:0004533 | 88.00 | gold quality |
| right testis | UBERON:0004534 | 86.65 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.22 | gold quality |
| testis | UBERON:0000473 | 85.34 | gold quality |
| buccal mucosa cell | CL:0002336 | 77.84 | gold quality |
| colonic epithelium | UBERON:0000397 | 73.31 | gold quality |
| cortical plate | UBERON:0005343 | 71.39 | gold quality |
| bone marrow cell | CL:0002092 | 70.12 | gold quality |
| sural nerve | UBERON:0015488 | 68.74 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 64.15 | gold quality |
| oviduct epithelium | UBERON:0004804 | 63.09 | gold quality |
| endothelial cell | CL:0000115 | 63.06 | gold quality |
| calcaneal tendon | UBERON:0003701 | 62.50 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 62.40 | gold quality |
| biceps brachii | UBERON:0001507 | 62.30 | gold quality |
| tendon | UBERON:0000043 | 61.90 | gold quality |
| ganglionic eminence | UBERON:0004023 | 61.89 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 61.41 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 59.06 | gold quality |
| cartilage tissue | UBERON:0002418 | 57.77 | gold quality |
| adult organism | UBERON:0007023 | 57.51 | gold quality |
| corpus callosum | UBERON:0002336 | 57.29 | gold quality |
| muscle tissue | UBERON:0002385 | 56.89 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 56.73 | silver quality |
| adrenal tissue | UBERON:0018303 | 56.07 | gold quality |
| deltoid | UBERON:0001476 | 56.02 | gold quality |
| gall bladder | UBERON:0002110 | 55.16 | gold quality |
| monocyte | CL:0000576 | 54.52 | gold quality |
| islet of Langerhans | UBERON:0000006 | 54.19 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.72 |
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.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): skeletal dysplasia