ASCC1 Chromosome 10
Activating signal cointegrator 1 complex subunit 1
Upload your DNA to see your personal genotypes for variants in ASCC1.
What This Gene Does
This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Activating signal cointegrator 1 complex
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000138303
Associated Conditions (9)
Spinal muscular atrophy with congenital bone fractures 2
ASCC1-related disorder
Inborn genetic diseases
Squamous cell lung carcinoma
Barrett esophagus
Centronuclear myopathy
Arthrogryposis multiplex congenita
Fetal akinesia deformation sequence 1
See cases
Key Variants
RS145940742
Conflicting classifications of pathogenicity
Spinal muscular atrophy with congenital bone fractures 2, ASCC1-related disorder, Spinal muscular atrophy with congenital bone fractures 2
Health Risk
RS147348349
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1856793994
Likely pathogenic
Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
Health Risk
RS2493337844
Likely pathogenic
ASCC1-related disorder, ASCC1-related disorder
Health Risk
RS767094468
Likely pathogenic
Health Risk
RS1233016139
Pathogenic
Health Risk
RS1281256224
Pathogenic
Inborn genetic diseases, Spinal muscular atrophy with congenital bone fractures 2, Squamous cell lung carcinoma
Health Risk
RS138245920
Pathogenic
Barrett esophagus, Barrett esophagus
Health Risk
RS1389098934
Pathogenic
Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
Health Risk
RS1589623653
Pathogenic
Health Risk
RS183415577
Pathogenic
Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2
Health Risk
RS1856787943
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145940742 | Health Risk | Conflicting classifications of pathogenicity | Spinal muscular atrophy with congenital bone fractures 2, ASCC1-related disorder, Spinal muscular atrophy with congenital bone fractures 2 |
| RS147348349 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1856793994 | Health Risk | Likely pathogenic | Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2 |
| RS2493337844 | Health Risk | Likely pathogenic | ASCC1-related disorder, ASCC1-related disorder |
| RS767094468 | Health Risk | Likely pathogenic | — |
| RS1233016139 | Health Risk | Pathogenic | — |
| RS1281256224 | Health Risk | Pathogenic | Inborn genetic diseases, Spinal muscular atrophy with congenital bone fractures 2, Squamous cell lung carcinoma |
| RS138245920 | Health Risk | Pathogenic | Barrett esophagus, Barrett esophagus |
| RS1389098934 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2 |
| RS1589623653 | Health Risk | Pathogenic | — |
| RS183415577 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2 |
| RS1856787943 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2494126465 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2 |
| RS746994660 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2 |
| RS778054296 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2 |
| RS781528301 | Health Risk | Pathogenic | — |
| RS866050664 | Health Risk | Pathogenic | Spinal muscular atrophy with congenital bone fractures 2, Centronuclear myopathy, Spinal muscular atrophy with congenital bone fractures 2 |
| RS937013345 | Health Risk | Pathogenic | — |
| RS747595523 | Health Risk | Pathogenic/Likely pathogenic | Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1, Spinal muscular atrophy with congenital bone fractures 2 |
| RS753324947 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy with congenital bone fractures 2, See cases, ASCC1-related disorder |
| RS763845791 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2 |
| RS769501930 | Health Risk | Pathogenic/Likely pathogenic | Spinal muscular atrophy with congenital bone fractures 2, Spinal muscular atrophy with congenital bone fractures 2 |