CDH1

Human cadherin 1 anchor

NCBI identifies human CDH1 as the protein-coding cadherin 1 gene, Gene ID 999, with HGNC:1748. This supports a provisional interpretation but does not establish the registry's intention. [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/999)

1. Does the registry's originating record resolve to human NCBI Gene 999 or HGNC:1748? provenance
2. Which organism and biological entity type does the original registration explicitly identify? definition

CDH1 encodes E-cadherin

CDH1 encodes epithelial cadherin, or E-cadherin; the gene and encoded protein require distinct observation targets. [MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/cdh1/)

1. Does each attached observation concern genomic CDH1, a transcript or an E-cadherin product? boundary
2. Does the catalogue already own either entity in another publication that this entry should reference? boundary

Assembly-bound locus

Require a versioned genomic reference and coordinate convention for every CDH1 interval or genomic change.

1. Which assembly, chromosome accession and coordinate convention locate the CDH1 observation? provenance
2. Does the reported reference allele agree with the sequence at that position? measurement

Versioned transcript mapping

NCBI lists multiple CDH1 transcript variants. Record the selected accession and version before describing coding or splice consequences. [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/999)

1. Which CDH1 transcript accession and version underlie the reported consequence? provenance
2. Is the proposed RNA consequence measured in a relevant sample or inferred from sequence? measurement

Contextual RNA abundance

Treat CDH1 RNA abundance as a specimen-specific measurement, preserving cell type, sampling conditions, transcript coverage and normalization.

1. Which cells or tissue contributed to the CDH1 RNA measurement, and could mixed cell populations explain the result? measurement
2. What assay, normalization and detection limit distinguish low abundance from failure to detect CDH1? measurement

Site-specific regulatory observations

When methylation or another regulatory mechanism is proposed, retain the assayed CDH1 region and supporting expression evidence rather than assigning a global silenced state.

1. Which CDH1 regulatory sites were assayed, and what measurement supports the proposed regulatory state? measurement
2. What matched expression or perturbation evidence links that observation to reduced CDH1 transcription? provenance

Adhesion product regions

The encoded adhesion protein has extracellular cadherin repeats, a transmembrane region and a cytoplasmic tail. Use product-specific references when mapping observations to these regions. [NCBI PubChem](https://pubchem.ncbi.nlm.nih.gov/gene/CDH1/human)

1. Which encoded isoform and protein region does the CDH1 alteration or detection reagent concern? boundary
2. Was E-cadherin detected at cell junctions, elsewhere in the cell or below the assay's detection limit? measurement

Calcium-dependent adhesion evidence

E-cadherin participates in calcium-dependent cell-cell adhesion. A CDH1 functional interpretation should specify the assay, calcium conditions and controls. [NCBI PubChem](https://pubchem.ncbi.nlm.nih.gov/gene/CDH1/human)

1. What adhesion endpoint was measured, under which calcium conditions and against which reference cells? measurement
2. What perturbation, rescue or independent evidence supports attributing the result to CDH1? provenance

Alteration origin and dosage

Record sequence or copy-number findings with allele fraction, zygosity, phase and evidence for origin when available; preserve unknown states.

1. What evidence establishes whether the CDH1 alteration is germline, somatic or unresolved? provenance
2. What allele fraction, copy-number and phase observations describe the affected CDH1 copies? measurement

Evidence-bounded conclusions

Keep measured molecular effects, computational predictions and externally supplied clinical classifications separate, with their sources and dates.

1. Which CDH1 conclusions have direct experimental support, and which depend on predictions or conflicting interpretations? provenance
2. Does the available evidence support annotation or comparison, or must the proposed clinical use be referred to a clinical interpretation model? action

Check these first

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these check these first hold for the sense of CDH1 this model covers, and on what evidence? provenance

Identifiers and schemes

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these identifiers and schemes hold for the sense of CDH1 this model covers, and on what evidence? provenance

Standards and regulation

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these standards and regulation hold for the sense of CDH1 this model covers, and on what evidence? provenance

Real-world use

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these real-world use hold for the sense of CDH1 this model covers, and on what evidence? provenance

Failure modes and hazards

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these failure modes and hazards hold for the sense of CDH1 this model covers, and on what evidence? provenance

Neighbouring kinds and how to tell them apart

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these neighbouring kinds and how to tell them apart hold for the sense of CDH1 this model covers, and on what evidence? provenance