POC1B-GALNT4 Readthrough Gene: A Novel Chimeric Transcript in Human Genomics

Comprehensive genomic, expression, and clinical insights into the POC1B-GALNT4 readthrough locus

Gene Information Card

Symbol POC1B-GALNT4
Full Name POC1B-GALNT4 readthrough (NMD candidate)
Gene Type Readthrough (chimeric transcript)
Chromosomal Location 12q21.33 (POC1B) and 12q21.33 (GALNT4) – adjacent genes on chromosome 12
NCBI Gene ID 100528024 ncbi.nlm.nih.gov/gene/100528024
Ensembl ID ENSG00000258839
UniProt ID Not applicable (no protein product; NMD candidate)
OMIM ID Not assigned (readthrough locus)
HGNC ID HGNC:44123
Aliases POC1B-GALNT4 readthrough transcript, POC1B-GALNT4 fusion

Description

POC1B-GALNT4 is a readthrough gene locus that produces a chimeric transcript spanning the adjacent POC1B (POC1 centriolar protein B) and GALNT4 (polypeptide N-acetylgalactosaminyltransferase 4) genes on chromosome 12q21.33. This readthrough transcript is predicted to be a nonsense-mediated decay (NMD) candidate, meaning it likely does not produce a functional protein. The locus is annotated in major genomic databases, but its biological significance remains under investigation. The readthrough event may represent a regulatory mechanism or a byproduct of transcriptional noise, with potential implications in gene expression regulation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No specific disease association Not established; readthrough transcript may be involved in NMD regulation, but no direct disease link has been reported. No clinical evidence in ClinVar or OMIM for this specific readthrough locus.

Expression Profile

Tissue Expression
Tissue nTPM level
No data available N/A No tissue expression data (nTPM) available for the readthrough transcript; expression of individual genes POC1B and GALNT4 may be found separately.
Cell Line Expression
Cell Line nTPM Notes
No data available N/A No cell line expression data for the readthrough transcript; individual gene expression may be inferred from POC1B and GALNT4.
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No curated variants N/A N/A No variants specifically curated for the readthrough locus in ClinVar or COSMIC.
Mutation functional classification

Loss of Function (LOF)

Not applicable; no functional protein product.

Gain of Function (GOF)

Not applicable; no functional protein product.

Dominant Negative (DN)

Not applicable; no functional protein product.

Protein Summary

The POC1B-GALNT4 readthrough transcript is predicted to undergo nonsense-mediated decay, and therefore no protein product is expected. The individual genes POC1B and GALNT4 encode proteins involved in centriole function and protein glycosylation, respectively, but the readthrough transcript itself does not contribute to these functions.

Related Products

Product name Cat.No. Species Gene ID
POC1B-GALNT4 Knockout HEK293 Cell Line EDJ-KQ52487 Human 100528030 Details Get a Quote
POC1B-GALNT4 Knockout HeLa Cell Line EDJ-KQ60950 Human 100528030 Details Get a Quote
POC1B-GALNT4 Knockout A-549 Cell Line EDJ-KQ69425 Human 100528030 Details Get a Quote
POC1B-GALNT4 Knockout HCT 116 Cell Line EDJ-KQ77776 Human 100528030 Details Get a Quote
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