ASCC1

Chr 10AR

activating signal cointegrator 1 complex subunit 1

Also known as: ASC1p50, CGI-18, SMABF2, p50

NCBI Gene: 51008 ENSG00000138303 UniProt: Q8N9N2 OMIM: 614215

The protein functions as a subunit of the activating signal cointegrator 1 (ASC-1) complex, which serves as a transcriptional coactivator for multiple transcription factors including AP-1, NF-kappa-B, and serum response factor, and also participates in DNA damage repair. Autosomal recessive mutations cause spinal muscular atrophy with congenital bone fractures, affecting both the neuromuscular system and skeletal development from birth. The gene shows relatively high tolerance to loss-of-function variants based on population data.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOFmechanismAR2 OMIM phenotypes

Clinical Summary— ASCC1

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ClinVar Variants

35 unique Pathogenic / Likely Pathogenic· 76 VUS of 252 total submissions

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Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

252 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22

Likely Pathogenic13

VUS76

Likely Benign102

Benign28

Conflicting2

Pathogenic

Likely Pathogenic

VUS

102

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	15	0	7	0	22
Likely Pathogenic	10	1	2	0	13
VUS	1	71	3	1	76
Likely Benign	2	15	41	44	102
Benign	1	5	20	2	28
Conflicting	—				2
Total	29	92	73	47	243

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

13 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap ASCC1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →