Gene
ASCC1
activating signal cointegrator 1 complex subunit 1
- HGNC 24268↗(opens in a new tab)
- Ensembl gene ENSG00000138303↗(opens in a new tab)
- NCBI Gene 51008↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q22.1
- Coordinates
- Chromosome 10: 72,096,032–72,216,276 (GRCh38)
- Exons
- 10 exons across 120.2 kb
- Protein
- 357 amino acids
- Also known as
- CGI-18, ASC1p50, Em:AC022392.3, p50
- MANE Select transcript
- ENST00000672957.1NM_001198800.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads ASCC1 yet. The test sequences your whole genome, so your data includes it all the same.
How ASCC1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.5 kb of the gene's 120.2 kb; 1,074 of those bases code for the protein.
How a genome test reads ASCC1
14
positions in ASCC1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 120.2 kb of ASCC1, introns included, not only the 2.5 kb of exons.
Traits linked to ASCC1
The Human Phenotype Ontology lists these as features of the rare conditions ASCC1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
- Multiple fractures present at birth
- Muscle weakness
- Severely decreased muscle tone
- Flexed joint that cannot be straightened
- Generalized decreased muscle tone
- Increased variability in muscle fiber diameter
- Muscle degeneration
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ASCC1 gene: activating signal cointegrator 1 complex subunit 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/ascc1
Dante Labs. ASCC1 gene: activating signal cointegrator 1 complex subunit 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ascc1
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