MCPH1-AS1
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Summary
MCPH1-AS1 (MCPH1 antisense RNA 1, HGNC:51655) is a long non-coding RNA gene on chromosome 8p23.1.
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:51655 |
| Approved symbol | MCPH1-AS1 |
| Name | MCPH1 antisense RNA 1 |
| Location | 8p23.1 |
| Locus type | RNA, long non-coding |
| Status | Approved |
| Ensembl gene | ENSG00000249898 |
| Ensembl biotype | lncRNA |
| Entrez | 100507530 |
| RNAcentral | URS00007E3E96 — lncRNA, 4132 nt, 1 organism(s) |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 22 lncRNA
ENST00000515608, ENST00000522897, ENST00000525186, ENST00000527490, ENST00000655775, ENST00000659007, ENST00000659223, ENST00000661193, ENST00000662128, ENST00000662747, ENST00000670222, ENST00000671468, ENST00000692160, ENST00000702576, ENST00000749477, ENST00000749478, ENST00000749479, ENST00000749480, ENST00000749481, ENST00000749482, ENST00000749483, ENST00000749484
RefSeq mRNA: 0 — MANE Select: None
Canonical transcript exons
ENST00000515608 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002041672 | 6648283 | 6648807 |
| ENSE00002054376 | 6618475 | 6619202 |
| ENSE00002073754 | 6620135 | 6620224 |
| ENSE00002079509 | 6620992 | 6621635 |
| ENSE00002086617 | 6627151 | 6627310 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 95.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.1299 / max 108.5483, expressed in 1210 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91706 | 2.9706 | 1171 |
| 91707 | 0.1257 | 48 |
| 91704 | 0.0336 | 19 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 95.58 | gold quality |
| oocyte | CL:0000023 | 94.61 | gold quality |
| secondary oocyte | CL:0000655 | 94.39 | gold quality |
| oviduct epithelium | UBERON:0004804 | 83.75 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.44 | gold quality |
| monocyte | CL:0000576 | 77.61 | gold quality |
| leukocyte | CL:0000738 | 76.73 | gold quality |
| cortical plate | UBERON:0005343 | 75.64 | gold quality |
| ventricular zone | UBERON:0003053 | 74.67 | gold quality |
| ganglionic eminence | UBERON:0004023 | 74.65 | gold quality |
| sural nerve | UBERON:0015488 | 72.53 | gold quality |
| pancreatic ductal cell | CL:0002079 | 72.32 | silver quality |
| bone marrow cell | CL:0002092 | 72.24 | silver quality |
| colonic epithelium | UBERON:0000397 | 71.66 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 70.88 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 70.78 | gold quality |
| amniotic fluid | UBERON:0000173 | 69.81 | gold quality |
| prefrontal cortex | UBERON:0000451 | 69.47 | gold quality |
| islet of Langerhans | UBERON:0000006 | 69.39 | gold quality |
| stromal cell of endometrium | CL:0002255 | 68.63 | gold quality |
| nucleus accumbens | UBERON:0001882 | 68.60 | gold quality |
| spinal cord | UBERON:0002240 | 68.12 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 68.06 | gold quality |
| caudate nucleus | UBERON:0001873 | 67.86 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 67.61 | gold quality |
| fallopian tube | UBERON:0003889 | 67.11 | gold quality |
| right frontal lobe | UBERON:0002810 | 66.99 | gold quality |
| putamen | UBERON:0001874 | 66.94 | gold quality |
| hypothalamus | UBERON:0001898 | 66.22 | gold quality |
| neocortex | UBERON:0001950 | 66.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.72 |
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): autosomal recessive primary microcephaly, microcephaly 1, primary, autosomal recessive