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CZ1P-ASNS

Chr 7

CZ1P-ASNS readthrough

NCBI Gene: 107986827

This locus represents a readthrough transcript between the CCZ1P pseudogene and ASNS gene that is predicted to undergo nonsense-mediated decay and is unlikely to produce a functional protein product. No disease associations have been established for this readthrough transcript, as it does not appear to generate a stable protein. Clinical significance remains unclear given the lack of protein production from this transcriptional unit.

ResearchSummary from RefSeq

This locus represents naturally occurring readthrough transcription between the neighboring CCZ1P (CCZ1 homolog, vacuolar protein trafficking and biogenesis associated pseudogene) and ASNS (asparagine synthetase) genes on chromosome 7. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jun 2017]

ResearchGenerating clinical summary…

Clinical Summary— CZ1P-ASNS

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ClinVar Variants

167 unique Pathogenic / Likely Pathogenic· 232 VUS of 840 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/CZ1P-ASNS?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

840 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic69

Likely Pathogenic98

VUS232

Likely Benign381

Benign27

Conflicting24

Pathogenic

Likely Pathogenic

232

VUS

381

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	63	5	1	0	69
Likely Pathogenic	73	24	1	0	98
VUS	2	206	18	6	232
Likely Benign	1	4	152	224	381
Benign	0	1	24	2	27
Conflicting	—				24
Total	139	240	196	232	831

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

View in ClinVar →

4 pathogenic / likely-pathogenic (of 5) ClinVar copy-number / structural variants overlap CZ1P-ASNS — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →