Details for: LOC124901766

Gene ID: 124901766

Gene Type:  ncRNA (Non-coding RNA)  - A functional RNA molecule that is transcribed from DNA but not translated into a protein. Includes classes like miRNA and lncRNA.

Symbol: LOC124901766

Ensembl ID: ENSG00000287636

Description: uncharacterized LOC124901766

Cell Significance Landscape

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • retinal cone cell CL0000573
    CSI 3.21
    rCSI 5.16%
    PRS 99.89

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [LOC124901766](/details-gene/124901766) is an uncharacterized non-coding RNA (ncRNA) located on human chromosome 7q36.1. Current expression data indicates a highly specialized role, with its significance being almost exclusively noted in [retinal cone cells](/details-cell/CL0000573). This restricted expression pattern suggests that [LOC124901766](/details-gene/124901766) may be involved in the specific biological processes that define the identity, function, or maintenance of these crucial photoreceptor cells. As an ncRNA, it is likely to exert its function through regulatory mechanisms, such as controlling the expression of protein-coding genes essential for vision. ## Cellular Roles and Expression Landscape The expression profile of [LOC124901766](/details-gene/124901766) is characterized by its remarkable cellular specificity. **Overall**, the gene's expression is most significant in the [retinal cone cell](/details-cell/CL0000573) (CSI: 3.21), a type of photoreceptor neuron responsible for color vision and high-acuity vision in bright light. The available data strongly suggest that [LOC124901766](/details-gene/124901766) serves as a specific molecular marker for this cell type. The lack of significant expression in other cell types implies a highly specialized function tightly linked to the unique physiology of cone photoreceptors, distinguishing it from genes with broader roles in neuronal function or cellular metabolism. ## Pathways and Molecular Function The precise molecular function of [LOC124901766](/details-gene/124901766) remains to be elucidated, as there are no current functional annotations in major pathway databases. Given its classification as an ncRNA and its specific expression in [retinal cone cells](/details-cell/CL0000573), it is plausible that it functions as a regulator of gene expression. It may act as a long non-coding RNA (lncRNA) that modulates chromatin structure, transcription factor activity, or mRNA stability for genes critical to cone cell development, phototransduction, or survival. Its role is likely integrated with pathways governing photoreceptor maintenance and the visual cycle, though direct evidence is currently lacking. ## Research Directions The highly specific expression of [LOC124901766](/details-gene/124901766) in [retinal cone cells](/details-cell/CL0000573) provides a clear path for future investigation into retinal biology and disease. **Proposed Hypotheses:** 1. [LOC124901766](/details-gene/124901766) is essential for the terminal differentiation and long-term survival of [retinal cone cells](/details-cell/CL0000573), and its dysregulation contributes to cone-rod dystrophies. 2. As a regulatory ncRNA, [LOC124901766](/details-gene/124901766) fine-tunes the expression of key cone-specific phototransduction genes, such as cone opsins (e.g., OPN1SW, OPN1MW, OPN1LW), thereby optimizing photoreceptor function. **Experimental Approach:** To test the hypothesis that [LOC124901766](/details-gene/124901766) regulates cone-specific gene expression, a loss-of-function study could be performed using human retinal organoids derived from induced pluripotent stem cells (iPSCs). A CRISPR-Cas9-mediated knockout or CRISPRi-mediated knockdown of [LOC124901766](/details-gene/124901766) could be implemented in these organoids. The impact on cone cell development and function would be assessed via single-cell RNA sequencing (scRNA-seq) to identify transcriptomic changes specifically in the cone cell population, alongside functional assays like electroretinography (ERG) on mature organoids to measure light-evoked responses. **Therapeutic Potential:** Given its exquisite specificity for [retinal cone cells](/details-cell/CL0000573), [LOC124901766](/details-gene/124901766) represents an intriguing therapeutic target for inherited retinal diseases that primarily affect cones. If its function is determined to be protective, developing antisense oligonucleotides (ASOs) or small molecules to stabilize or enhance its expression could be a viable strategy to slow cone degeneration. Conversely, if aberrant expression or gain-of-function variants are linked to disease, ASO-mediated knockdown could offer a highly targeted therapeutic intervention with a potentially minimal risk of off-target effects in other retinal cell types.