Provide a comprehensive cross-database identifier and functional mapping reference for human PDGFRA. This should serve as a definitive lookup resource for researchers. ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 1: GENE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Provide ALL gene-level database identifiers: - HGNC ID and approved symbol - Ensembl gene ID (ENSG) - NCBI Entrez Gene ID - OMIM gene/locus ID - Genomic location: chromosome, start position, end position, strand ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 2: TRANSCRIPT IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL transcript-level identifiers: - Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.) How many total transcripts? - RefSeq transcripts: ALL NM_ mRNA accessions Mark which is MANE Select (canonical clinical standard) - CCDS IDs: ALL consensus coding sequence identifiers For the CANONICAL/MANE SELECT transcript: - List ALL exon IDs (ENSE) with genomic coordinates - Total exon count ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 3: PROTEIN IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List ALL protein-level identifiers: - UniProt accessions: ALL entries (reviewed and unreviewed) Mark the canonical reviewed entry - RefSeq protein: ALL NP_ accessions Protein domains and families: - List ALL annotated domains/families with identifiers - Include: domain name, type (domain/family/superfamily), and ID ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 4: STRUCTURE IDENTIFIERS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Experimental structures: - List ALL PDB structure IDs - For each: experimental method (X-ray, NMR, Cryo-EM) and resolution - Total PDB structure count Predicted structures: - AlphaFold model ID and confidence metrics (pLDDT) ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 5: CROSS-SPECIES ORTHOLOGS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ List orthologous genes in key model organisms (where available): - Mouse (Mus musculus): gene ID, symbol - Rat (Rattus norvegicus): gene ID, symbol - Zebrafish (Danio rerio): gene ID, symbol - Fruit fly (Drosophila melanogaster): gene ID, symbol - Worm (C. elegans): gene ID, symbol - Yeast (S. cerevisiae): gene ID, symbol ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Clinical variant annotations: - Total variant count in clinical databases - Breakdown by classification: Pathogenic, Likely Pathogenic, Uncertain Significance (VUS), Likely Benign, Benign - List TOP 50 pathogenic/likely pathogenic variants with: variant ID, HGVS notation, associated condition AI-based variant effect predictions: - Splice effect predictions: Total count List TOP 50 predicted splice-altering variants with delta scores - Missense pathogenicity predictions: Total count List TOP 50 predicted pathogenic missense variants with scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Pathway membership: - List ALL biological pathways this gene participates in - Include pathway IDs and names - Total pathway count Gene Ontology annotations: - Biological Process: count and TOP 20 terms with IDs - Molecular Function: count and TOP 20 terms with IDs - Cellular Component: count and TOP 20 terms with IDs ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Protein-protein interactions: - Total interaction count - List TOP 50 highest-confidence interacting proteins with scores Protein similarity (evolutionary and structural): - Structural/embedding similarity: How many similar proteins? List TOP 20 with similarity scores - Sequence homology: How many homologous proteins? List TOP 20 with identity/similarity scores ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene encodes a transcription factor: Downstream targets (genes regulated BY this TF): - Total target gene count - List TOP 50 target genes with regulation type (activates/represses) DNA binding profiles: - List ALL known binding motif IDs - Motif family classification Upstream regulators (TFs that regulate THIS gene): - List known transcriptional regulators with evidence type ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 10: DRUG & PHARMACOLOGY DATA ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ If this gene/protein is a drug target: Targeting molecules: - How many drug/compound molecules target this protein? - List TOP 30 molecules by development phase - Include: molecule ID, name, mechanism, highest development phase Clinical trials: - How many clinical trials involve drugs targeting this gene? - List TOP 20 trials with: trial ID, phase, status, intervention Pharmacogenomics: - Known drug-gene interactions affecting drug response - Dosing guidelines if any exist ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 11: EXPRESSION PROFILES ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Tissue expression: - Which tissues express this gene most highly? - List TOP 30 tissues with expression scores/levels - Note any tissue-specific or tissue-enriched patterns Cell type expression: - Which cell types show highest expression? - List TOP 30 cell types with expression scores - Note any cell type-specific patterns Single-cell expression data (if available): - Which single-cell datasets/experiments include this gene? - Notable cell population patterns ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ SECTION 12: DISEASE ASSOCIATIONS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ Mendelian/monogenic disease links: - What diseases are caused by mutations in this gene? - List ALL associated diseases with: disease name, disease ID, inheritance pattern, evidence level Phenotype associations: - What clinical phenotypes are associated with this gene? - List TOP 50 phenotype terms with IDs Complex trait associations (GWAS): - What traits/diseases are linked via genome-wide association studies? - List TOP 30 GWAS associations with: trait, study ID, p-value, effect size if available ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ FORMATTING REQUIREMENTS ━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━ - Present each section with clear headers - Use tables for listing multiple items - Always include COUNTS for every category - For lists with 50 items: show total count + TOP 50 - For lists with

Question

Provide a comprehensive cross-database identifier and functional mapping
reference for human PDGFRA. This should serve as a definitive
lookup resource for researchers.

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 1: GENE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Provide ALL gene-level database identifiers:
- HGNC ID and approved symbol
- Ensembl gene ID (ENSG)
- NCBI Entrez Gene ID
- OMIM gene/locus ID
- Genomic location: chromosome, start position, end position, strand

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 2: TRANSCRIPT IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL transcript-level identifiers:
- Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.)
  How many total transcripts?
- RefSeq transcripts: ALL NM_ mRNA accessions
  Mark which is MANE Select (canonical clinical standard)
- CCDS IDs: ALL consensus coding sequence identifiers

For the CANONICAL/MANE SELECT transcript:
- List ALL exon IDs (ENSE) with genomic coordinates
- Total exon count

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 3: PROTEIN IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL protein-level identifiers:
- UniProt accessions: ALL entries (reviewed and unreviewed)
  Mark the canonical reviewed entry
- RefSeq protein: ALL NP_ accessions

Protein domains and families:
- List ALL annotated domains/families with identifiers
- Include: domain name, type (domain/family/superfamily), and ID

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 4: STRUCTURE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Experimental structures:
- List ALL PDB structure IDs
- For each: experimental method (X-ray, NMR, Cryo-EM) and resolution
- Total PDB structure count

Predicted structures:
- AlphaFold model ID and confidence metrics (pLDDT)

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 5: CROSS-SPECIES ORTHOLOGS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List orthologous genes in key model organisms (where available):
- Mouse (Mus musculus): gene ID, symbol
- Rat (Rattus norvegicus): gene ID, symbol
- Zebrafish (Danio rerio): gene ID, symbol
- Fruit fly (Drosophila melanogaster): gene ID, symbol
- Worm (C. elegans): gene ID, symbol
- Yeast (S. cerevisiae): gene ID, symbol

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Clinical variant annotations:
- Total variant count in clinical databases
- Breakdown by classification: Pathogenic, Likely Pathogenic,
  Uncertain Significance (VUS), Likely Benign, Benign
- List TOP 50 pathogenic/likely pathogenic variants with:
  variant ID, HGVS notation, associated condition

AI-based variant effect predictions:
- Splice effect predictions: Total count
  List TOP 50 predicted splice-altering variants with delta scores
- Missense pathogenicity predictions: Total count
  List TOP 50 predicted pathogenic missense variants with scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Pathway membership:
- List ALL biological pathways this gene participates in
- Include pathway IDs and names
- Total pathway count

Gene Ontology annotations:
- Biological Process: count and TOP 20 terms with IDs
- Molecular Function: count and TOP 20 terms with IDs
- Cellular Component: count and TOP 20 terms with IDs

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Protein-protein interactions:
- Total interaction count
- List TOP 50 highest-confidence interacting proteins with scores

Protein similarity (evolutionary and structural):
- Structural/embedding similarity: How many similar proteins?
  List TOP 20 with similarity scores
- Sequence homology: How many homologous proteins?
  List TOP 20 with identity/similarity scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene encodes a transcription factor:

Downstream targets (genes regulated BY this TF):
- Total target gene count
- List TOP 50 target genes with regulation type (activates/represses)

DNA binding profiles:
- List ALL known binding motif IDs
- Motif family classification

Upstream regulators (TFs that regulate THIS gene):
- List known transcriptional regulators with evidence type

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 10: DRUG & PHARMACOLOGY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene/protein is a drug target:

Targeting molecules:
- How many drug/compound molecules target this protein?
- List TOP 30 molecules by development phase
- Include: molecule ID, name, mechanism, highest development phase

Clinical trials:
- How many clinical trials involve drugs targeting this gene?
- List TOP 20 trials with: trial ID, phase, status, intervention

Pharmacogenomics:
- Known drug-gene interactions affecting drug response
- Dosing guidelines if any exist

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 11: EXPRESSION PROFILES
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Tissue expression:
- Which tissues express this gene most highly?
- List TOP 30 tissues with expression scores/levels
- Note any tissue-specific or tissue-enriched patterns

Cell type expression:
- Which cell types show highest expression?
- List TOP 30 cell types with expression scores
- Note any cell type-specific patterns

Single-cell expression data (if available):
- Which single-cell datasets/experiments include this gene?
- Notable cell population patterns

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 12: DISEASE ASSOCIATIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Mendelian/monogenic disease links:
- What diseases are caused by mutations in this gene?
- List ALL associated diseases with: disease name, disease ID,
  inheritance pattern, evidence level

Phenotype associations:
- What clinical phenotypes are associated with this gene?
- List TOP 50 phenotype terms with IDs

Complex trait associations (GWAS):
- What traits/diseases are linked via genome-wide association studies?
- List TOP 30 GWAS associations with: trait, study ID, p-value,
  effect size if available

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
FORMATTING REQUIREMENTS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
- Present each section with clear headers
- Use tables for listing multiple items
- Always include COUNTS for every category
- For lists with >50 items: show total count + TOP 50
- For lists with <50 items: show ALL items
- Always include database identifiers (IDs), not just names
- Mark canonical/primary/reviewed entries where applicable
- If a section has no data available, state "No data available"
  rather than omitting the section

Accepted Answer

PDGFRA: Comprehensive Cross-Database Identifier and Functional Mapping Reference ╔══════════════════════════════════════════════════════════════════════════════╗ ║ PLATELET DERIVED GROWTH FACTOR RECEPTOR ALPHA (PDGFRA) ║ ║ Human Gene Reference Document ║ ╚══════════════════════════════════════════════════════════════════════════════╝
Section 1: Gene Identifiers
DatabaseIdentifierDescription HGNC IDHGNC:8803Approved symbol: PDGFRA HGNC Nameplatelet derived growth factor receptor alpha Ensembl …

Attribute	Value
Chromosome	4
Cytogenetic Band	4q12
Start Position	54,229,130
End Position	54,298,246
Strand	+ (forward)
Genomic Accession	NC_000004.12
Gene Span	~69.1 kb

Transcript ID	Biotype	Start	End	Strand
ENST00000257290	protein_coding	54,229,293	54,298,245	+
ENST00000958745	protein_coding	54,229,132	54,298,243	+
ENST00000958746	protein_coding	54,229,147	54,298,244	+
ENST00000958747	protein_coding	54,229,249	54,298,243	+
ENST00000958748	protein_coding	54,229,281	54,298,242	+
ENST00000958749	protein_coding	54,229,303	54,298,246	+
ENST00000958750	protein_coding	54,229,823	54,298,245	+
ENST00000958751	protein_coding	54,229,881	54,298,244	+
ENST00000958752	protein_coding	54,230,014	54,298,242	+
ENST00000958753	protein_coding	54,229,130	54,297,345	+
ENST00000958754	protein_coding	54,232,722	54,298,244	+
ENST00000958755	protein_coding	54,233,102	54,298,246	+
ENST00000870889	protein_coding	54,231,979	54,298,245	+
ENST00000870890	protein_coding	54,233,071	54,298,244	+
ENST00000508170	protein_coding	54,229,280	54,265,353	+
ENST00000503856	protein_coding	54,229,843	54,263,776	+
ENST00000504461	protein_coding	54,230,322	54,263,773	+
ENST00000512143	protein_coding	54,229,293	54,261,412	+
ENST00000512522	protein_coding	54,243,575	54,263,762	+
ENST00000509490	nonsense_mediated_decay	54,229,311	54,281,978	+
ENST00000461294	retained_intron	54,276,751	54,278,246	+
ENST00000507536	retained_intron	54,277,176	54,281,977	+
ENST00000509092	retained_intron	54,229,292	54,280,758	+

Accession	Type	MANE Select	Chromosome
NM_006206	mRNA	✓ YES	4
NM_001347827	mRNA		4
NM_001347828	mRNA		4
NM_001347829	mRNA		4
NM_001347830	mRNA		4

Exon ID	Start	End	Length
ENSE00002028061	54,229,293	54,229,415	123 bp
ENSE00003785223	54,261,095	54,261,412	318 bp
ENSE00003634368	54,263,667	54,263,927	261 bp
ENSE00003580939	54,264,919	54,265,049	131 bp
ENSE00003566972	54,267,289	54,267,460	172 bp
ENSE00003547009	54,267,552	54,267,741	190 bp
ENSE00003674470	54,270,633	54,270,748	116 bp
ENSE00003626526	54,272,394	54,272,520	127 bp
ENSE00003584929	54,273,537	54,273,730	194 bp
ENSE00003548932	54,274,531	54,274,625	95 bp
ENSE00003571737	54,274,841	54,274,973	133 bp
ENSE00003673604	54,277,388	54,277,492	105 bp
ENSE00003529069	54,277,896	54,278,006	111 bp
ENSE00003464046	54,278,362	54,278,515	154 bp
ENSE00003647873	54,280,316	54,280,482	167 bp
ENSE00003483772	54,285,371	54,285,486	116 bp
ENSE00003570052	54,285,841	54,285,963	123 bp
ENSE00003681641	54,287,430	54,287,541	112 bp
ENSE00003586981	54,288,799	54,288,898	100 bp
ENSE00003462897	54,289,009	54,289,114	106 bp
ENSE00003471835	54,290,313	54,290,554	242 bp
ENSE00003482129	54,258,757	54,258,817	61 bp
ENSE00001226318	54,295,125	54,298,245	3,121 bp

Property	Value
Length	1,089 amino acids
Mass	122,670 Da
Alternative Names	Alpha platelet-derived growth factor receptor, Alpha-type PDGF receptor, CD140a antigen, PDGFR-2

PDGFRA Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Description
HGNC ID	HGNC:8803	Approved symbol: PDGFRA
HGNC Name	platelet derived growth factor receptor alpha
Ensembl Gene	ENSG00000134853
NCBI Entrez	5156
OMIM	173490	Gene/locus
CCDS	CCDS3495	Consensus CDS
PharmGKB	PA33147	VIP gene

Accession	MANE Select	Status
NP_006197	✓ YES	Reviewed
NP_001334756		Reviewed
NP_001334757		Reviewed
NP_001334758		Reviewed
NP_001334759		Reviewed

InterPro ID	Name	Type
IPR027290	PDGFRA	Family
IPR050122	RTK	Family
IPR000719	Prot_kinase_dom	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR020635	Tyr_kinase_cat_dom	Domain
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013098	Ig_I-set	Domain
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR001824	Tyr_kinase_rcpt_3_CS	Conserved_site
IPR008266	Tyr_kinase_AS	Active_site
IPR017441	Protein_kinase_ATP_BS	Binding_site

PDB ID	Method	Resolution	Title
5GRN	X-ray	1.77 Å	PDGFRA in Complex with WQ-C-159
8PQJ	X-ray	1.82 Å	PDGFRA wild-type kinase domain
6A32	X-ray	1.87 Å	PDGFRA kinase domain mutant T674I
6JOL	X-ray	1.9 Å	PDGFRA in complex with imatinib
8PQK	X-ray	2.0 Å	APO PDGFRA-T674I kinase domain
5K5X	X-ray	2.17 Å	Crystal structure of human PDGFRA
1GQ5	X-ray	2.2 Å	NHERF Interaction with PDGFR
9GZH	X-ray	2.2 Å	PDGFRA-T674I with covalent ponatinib derivative
8PQH	X-ray	2.5 Å	PDGFRA T674I with avapritinib
8PQI	X-ray	2.6 Å	PDGFRA T674I with avapritinib derivative 9
6JOJ	X-ray	2.6 Å	PDGFRA T674I with crenolanib (soaking)
7LBF	Cryo-EM	2.8 Å	HCMV Trimer gHgLgO with PDGFRα
6JOI	X-ray	3.1 Å	PDGFRA T674I with crenolanib (co-cryst)
7RAM	Cryo-EM	3.43 Å	HCMV gHgLgO Trimer with PDGFRα
6JOK	X-ray	3.8 Å	PDGFRA with sunitinib (soaking)

Organism	Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000029231	Pdgfra	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000002244	Pdgfra	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000070494	pdgfra	protein_coding
Fruit fly (D. melanogaster)	No direct ortholog	—	—
Worm (C. elegans)	No direct ortholog	—	—
Yeast (S. cerevisiae)	No direct ortholog	—	—

Classification	Count
Pathogenic	6
Likely Pathogenic	1
Uncertain Significance (VUS)	~3,400+
Likely Benign	200+
Benign	92
Conflicting	4

ClinVar ID	HGVS Notation	Type	Associated Condition
13545	c.2533_2544del (p.His845_Asn848del)	Deletion	GIST
13547	c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg)	Insertion	GIST
13548	c.1679_1693del (p.Arg560_Ser564del)	Deletion	GIST
13549	c.1696_1713del (p.Ser566_Glu571del)	Deletion	GIST
635777	c.1957_1958delinsTT (p.Pro653Leu)	Indel	GIST
635778	c.2537A>T (p.Asp846Val)	SNV	GIST

Variant	Gene	Effect	Delta Score
4:54229148:G:GT	PDGFRA	donor_gain	0.96
4:54229412:GAAG:G	PDGFRA	donor_gain	0.98
4:54229414:AGG:A	PDGFRA	donor_loss	0.98
4:54229416:G:GA	PDGFRA	donor_loss	0.98
4:54229416:G:GG	PDGFRA	donor_gain	0.96
4:54229417:T:G	PDGFRA	donor_loss	0.98
4:54229553:GAGA:G	PDGFRA	donor_gain	0.81
4:54229554:A:T	PDGFRA	donor_gain	0.79
4:54229555:GA:G	PDGFRA	donor_gain	0.75
4:54229185:GT:G	PDGFRA	donor_gain	0.73
4:54229186:T:TA	PDGFRA	donor_gain	0.76
4:54229149:GAGTT:G	PDGFRA	donor_gain	0.67
4:54229301:TGGAG:T	PDGFRA	acceptor_gain	0.66
4:54229287:G:GC	PDGFRA	acceptor_gain	0.64
4:54230080:T:G	PDGFRA	donor_gain	0.61
4:54229273:A:AG	PDGFRA	acceptor_gain	0.60
4:54229302:GGAG:G	PDGFRA	acceptor_gain	0.60
4:54229305:G:T	PDGFRA	acceptor_gain	0.60
4:54229274:A:G	PDGFRA	acceptor_gain	0.57
4:54229149:G:T	PDGFRA	donor_gain	0.55
4:54229418:A:C	PDGFRA	donor_loss	0.54
4:54229422:G:T	PDGFRA	donor_gain	0.54
4:54229541:GTT:G	PDGFRA	donor_gain	0.53
4:54230058:G:GT	PDGFRA	donor_gain	0.52
4:54229414:AG:A	PDGFRA	donor_gain	0.50
4:54229415:GG:G	PDGFRA	donor_gain	0.50
4:54229910:TGTG:T	PDGFRA	donor_gain	0.50
4:54229911:GTGG:G	PDGFRA	donor_gain	0.50
4:54229912:T:A	PDGFRA	donor_gain	0.50
...	...	...	...

Variant	Protein Change	AM Score	Class
4:54261190:T:A	C49S	0.999	likely_pathogenic
4:54261190:T:C	C49R	0.998	likely_pathogenic
4:54261192:C:G	C49W	0.998	likely_pathogenic
4:54261191:G:A	C49Y	0.997	likely_pathogenic
4:54261191:G:C	C49S	0.999	likely_pathogenic
4:54261191:G:T	C49F	0.995	likely_pathogenic
4:54261214:T:A	W57R	0.999	likely_pathogenic
4:54261214:T:C	W57R	0.999	likely_pathogenic
4:54261216:G:C	W57C	0.999	likely_pathogenic
4:54261216:G:T	W57C	0.999	likely_pathogenic
4:54261215:G:C	W57S	0.995	likely_pathogenic
4:54261185:T:C	L47P	0.996	likely_pathogenic
4:54261197:G:A	G51E	0.983	likely_pathogenic
4:54261197:G:T	G51V	0.985	likely_pathogenic
4:54261196:G:T	G51W	0.989	likely_pathogenic
4:54261190:T:G	C49G	0.987	likely_pathogenic
4:54261214:T:G	W57G	0.987	likely_pathogenic
4:54261179:T:C	F45S	0.983	likely_pathogenic
4:54261179:T:G	F45C	0.981	likely_pathogenic
4:54261185:T:G	L47R	0.978	likely_pathogenic
4:54261196:G:A	G51R	0.975	likely_pathogenic
4:54261196:G:C	G51R	0.975	likely_pathogenic
4:54261185:T:A	L47Q	0.971	likely_pathogenic
4:54261128:C:A	P28H	0.969	likely_pathogenic
4:54261178:T:C	F45L	0.963	likely_pathogenic
...	...	...	...

Pathway ID	Name	Disease Pathway
R-HSA-186797	Signaling by PDGF	No
R-HSA-186763	Downstream signal transduction	No
R-HSA-1257604	PIP3 activates AKT signaling	No
R-HSA-5673001	RAF/MAP kinase cascade	No
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	No
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer	Yes
R-HSA-9673767	Signaling by PDGFRA transmembrane/juxtamembrane/kinase domain mutants	Yes
R-HSA-9673770	Signaling by PDGFRA extracellular domain mutants	Yes
R-HSA-9674396	Imatinib-resistant PDGFR mutants	Yes
R-HSA-9674401	Sunitinib-resistant PDGFR mutants	Yes
R-HSA-9674403	Regorafenib-resistant PDGFR mutants	Yes
R-HSA-9674404	Sorafenib-resistant PDGFR mutants	Yes
R-HSA-9674428	PDGFR mutants bind TKIs	Yes

GO ID	Term
GO:0005018	platelet-derived growth factor alpha-receptor activity
GO:0004714	transmembrane receptor protein tyrosine kinase activity
GO:0004672	protein kinase activity
GO:0005524	ATP binding
GO:0048407	platelet-derived growth factor binding
GO:0005161	platelet-derived growth factor receptor binding
GO:0005021	vascular endothelial growth factor receptor activity
GO:0038085	vascular endothelial growth factor binding
GO:0042803	protein homodimerization activity
GO:0044877	protein-containing complex binding
GO:0160185	phospholipase C activator activity
...	...

GO ID	Term
GO:0048008	platelet-derived growth factor receptor signaling pathway
GO:0035790	platelet-derived growth factor receptor-alpha signaling pathway
GO:0038091	positive regulation of cell proliferation by VEGF-activated PDGFR signaling
GO:0007169	cell surface receptor protein tyrosine kinase signaling pathway
GO:0018108	peptidyl-tyrosine phosphorylation
GO:0046777	protein autophosphorylation
GO:0008284	positive regulation of cell population proliferation
GO:0016477	cell migration
GO:0030335	positive regulation of cell migration
GO:0042060	wound healing
GO:0070374	positive regulation of ERK1 and ERK2 cascade
GO:0051897	positive regulation of PI3K/AKT signaling
GO:0001701	in utero embryonic development
GO:0030324	lung development
GO:0060021	roof of mouth development
GO:0048704	embryonic skeletal system morphogenesis
GO:0050872	white fat cell differentiation
GO:0030198	extracellular matrix organization
GO:0032956	regulation of actin cytoskeleton organization
GO:0055003	cardiac myofibril assembly
...	...

GO ID	Term
GO:0005886	plasma membrane
GO:0009897	external side of plasma membrane
GO:0016020	membrane
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0005829	cytosol
GO:0005737	cytoplasm
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0043235	receptor complex
GO:1990270	platelet-derived growth factor receptor-ligand complex
GO:0032991	protein-containing complex
GO:0005929	cilium
GO:0005902	microvillus
GO:0030054	cell junction

UniProt ID	Gene	Score	Description
P04085	PDGFA	998	Platelet-derived growth factor A
Q9NRA1	PDGFC	998	Platelet-derived growth factor C
P01127	PDGFB	996	Platelet-derived growth factor B
Q9GZP0	PDGFD	991	Platelet-derived growth factor D
Q6UN15	FIP1L1	981	FIP1-like 1 protein
P09038	FGF2	941	Fibroblast growth factor 2
Q06124	PTPN11	889	Tyrosine-protein phosphatase SHP-2
P01133	EGF	877	Pro-epidermal growth factor
P42336	PIK3CA	867	PI3-kinase p110α catalytic subunit
P21583	SCF/KITLG	809	Kit ligand
Q13516	OLIG2	809	Oligodendrocyte TF 2
Q5XXA6	ANO1	804	Anoctamin-1
P21359	NF1	803	Neurofibromin
P27986	PIK3R1	796	PI3K regulatory subunit alpha
P60484	PTEN	796	Phosphatase and tensin homolog
P01116	KRAS	783	GTPase KRas
Q99643	SDHC	776	Succinate dehydrogenase C
P01137	TGFB1	761	Transforming growth factor beta-1
Q92913	PCDHGA10	760	Protocadherin gamma-A10
Q6UVK1	CSPG4	751	Chondroitin sulfate proteoglycan 4
P48061	CXCL12	749	Stromal cell-derived factor 1
P21912	SDHB	746	Succinate dehydrogenase B
P35222	CTNNB1	745	Catenin beta-1
P48681	NES	739	Nestin
O14521	SDHD	735	Succinate dehydrogenase D
P28906	CD34	731	CD34 antigen
O75874	IDH1	727	Isocitrate dehydrogenase 1
P17813	ENG	725	Endoglin
P16284	PECAM1	723	Platelet endothelial cell adhesion molecule
P14136	GFAP	722	Glial fibrillary acidic protein
...	...	...	...

UniProt	Similarity	Description
O08747	1.0000	Mouse Pdgfra
O60674	1.0000	JAK2
P43481	1.0000	KDR (VEGFR2)
Q00495	1.0000	PDGFRB
O97799	0.9998	Bovine PDGFRA
P10721	0.9998	KIT
P09619	0.9996	PDGFRB
P05622	0.9999	CSF1R
P35918	0.9998	VEGFR2/KDR
P09581	1.0000	PDGFRA (self)
Q05030	0.9999	FLT3
P20786	0.9999	FLT4
P35968	0.9993	KDR
P00545	0.9993	ABL1
...	...	...

UniProt	Identity (%)	Bitscore	Description
P00545	99.1	1826	ABL1
Q00495	99.6	1885	PDGFRB
P09581	99.6	1887	PDGFRA (chicken)
Q28317	99.4	1949	PDGFRA (bovine)
P43481	99.4	1953	KDR
Q4VSN5	99.5	1807	PDGFRA (chimp)
O97799	98.4	1845	PDGFRA (bovine)
P10721	97.8	1840	KIT
P21802	97.0	1615	FGFR2
P21803	97.0	1611	FGFR3
P05622	96.6	2091	CSF1R
Q05030	96.6	2091	FLT3
P20786	96.0	2051	FLT4
P26618	96.0	2050	FLT1
...	...	...	...

TF Gene	Regulation Type	Confidence
ATF4	Activation	High
E2F1	Activation	High
GATA6	Activation	High
GLI1	Activation	High
GLI2	Activation	—
ASCL1	Activation	Low
HOXC6	Activation	—
MIXL1	Activation	—
CREB1	Repression	High
FOXO1	Repression	Low
PAX3	Repression	High
POU5F1	Repression	High
PPARG	Repression	—
SP1	Unknown	High
SP3	Unknown	High
YY1	Unknown	High
FOS	Unknown	High
CEBPB	Unknown	—
CEBPD	Unknown	High
CEBPG	Unknown	High
NFKB	Unknown	High
PAX1	Unknown	High
SOX10	Unknown	—
GATA4	Unknown	—
ZNF148	Unknown	High
ZNF354C	Unknown	High

Target ID	Name	Type
CHEMBL2007	Platelet-derived growth factor receptor alpha	SINGLE PROTEIN
CHEMBL2095189	Platelet-derived growth factor receptor	PROTEIN COMPLEX
CHEMBL4630733	Cereblon/PDGFRA	PROTEIN-PROTEIN INTERACTION

ChEMBL ID	Drug Name	Type
CHEMBL941	Imatinib	Small molecule
CHEMBL1642	Imatinib mesylate	Small molecule
CHEMBL535	Sunitinib	Small molecule
CHEMBL1336	Sorafenib	Small molecule
CHEMBL1946170	Regorafenib	Small molecule
CHEMBL24828	Vandetanib	Small molecule
CHEMBL255863	Nilotinib	Small molecule
CHEMBL288441	Bosutinib	Small molecule
CHEMBL477772	Pazopanib	Small molecule
CHEMBL1289926	Axitinib	Small molecule
CHEMBL1289601	Lenvatinib	Small molecule
CHEMBL1289494	Tivozanib	Small molecule
CHEMBL502835	Nintedanib	Small molecule
CHEMBL3039504	Nintedanib esylate	Small molecule
CHEMBL5416410	Dasatinib	Small molecule
CHEMBL1171837	Ponatinib	Small molecule
CHEMBL2403108	Ceritinib	Small molecule
CHEMBL3813873	Pexidartinib	Small molecule
CHEMBL4204794	Avapritinib	Small molecule
CHEMBL4216467	Ripretinib	Small molecule
CHEMBL608533	Midostaurin	Small molecule
CHEMBL576982	Quizartinib	Small molecule
CHEMBL1287853	Fedratinib	Small molecule
CHEMBL553	Erlotinib	Small molecule

ChEMBL ID	Drug Name
CHEMBL101253	Vatalanib
CHEMBL1908391	Masitinib
CHEMBL2105728	Crenolanib
CHEMBL217092	Saracatinib
CHEMBL223360	Linifanib
CHEMBL2316582	Olverembatinib
CHEMBL276711	Semaxanib
CHEMBL31965	Canertinib
CHEMBL377300	Brivanib
CHEMBL377559	Retaspimycin HCl
CHEMBL415049	Barasertib
CHEMBL428690	Alvocidib
CHEMBL491473	Cediranib
CHEMBL5095033	Ibcasertib
CHEMBL5095202	Vimseltinib
CHEMBL522892	Dovitinib
CHEMBL5314535	Pimicotinib
CHEMBL572881	Motesanib
CHEMBL603469	Lestaurtinib
CHEMBL1852688	Infigratinib
CHEMBL1834657	Infigratinib phosphate

Tissue	Score	Quality	Rank
Tibia	99.38	Gold	292
Decidua	99.29	Gold	331
Synovial joint	99.19	Gold	379
Pericardium	99.04	Gold	446
Lower lobe of lung	98.85	Gold	538
Pylorus	98.75	Gold	584
Stromal cell of endometrium	98.74	Gold	590
Parietal pleura	98.67	Gold	622
Caput epididymis	98.58	Gold	663
Left ovary	98.56	Gold	672
Pleura	98.43	Gold	732
Cauda epididymis	98.42	Gold	739
Right ovary	98.29	Gold	799
Layer of synovial tissue	98.11	Gold	883
Visceral pleura	98.06	Gold	904
Germinal epithelium of ovary	97.97	Gold	946
Urethra	97.96	Gold	953
Ovary	97.96	Gold	952
Mucosa of urinary bladder	97.96	Gold	954
Mammary duct	97.90	Gold	979
Skin of hip	97.84	Gold	1010
Superficial temporal artery	97.82	Gold	1020
Calcaneal tendon	97.81	Gold	1020
Tendon of biceps brachii	97.78	Gold	1040
Epithelium of mammary gland	97.69	Gold	1080
Heart right ventricle	97.56	Gold	1140
Cardia of stomach	97.54	Gold	1150
Corpus epididymis	97.47	Gold	1180
Jejunal mucosa	97.30	Gold	1260
Tendon	97.28	Gold	1270

Experiment ID	Description	Species	Cell Count
E-HCAD-35	Multiple sclerosis neuronal vulnerability	H. sapiens	477,586
E-MTAB-10287	Endometrial tissue single-cell	H. sapiens	340,047
E-MTAB-9543	Human gastrointestinal tract	H. sapiens	319,479
E-MTAB-8410	Colorectal tumors and colon tissue	H. sapiens	267,298
E-HCAD-56	Mouse and human spinal cord	H. sapiens	245,394
E-GEOD-134144	Testis development during puberty	H. sapiens	150,071
E-MTAB-6701	First trimester fetal-maternal interface	H. sapiens	135,071
E-CURD-126	Normal and fibrotic lungs	H. sapiens	121,080
E-MTAB-9435	IDHwt glioblastoma tumors	H. sapiens	62,867
E-GEOD-135922	Retinal pigment epithelium and choroid	H. sapiens	55,571
E-MTAB-8381	Adult human ovaries cortex cells	H. sapiens	46,428
E-HCAD-10	Human kidney immune zonation	H. sapiens	38,813
E-MTAB-10662	Human fetal lung	H. sapiens	39,900
E-HCAD-11	Human colonic mesenchyme in IBD	H. sapiens	32,899
E-GEOD-114530	Human fetal kidneys	H. sapiens	22,148
E-MTAB-9906	Human fetal intestinal ileum	H. sapiens	21,097
E-GEOD-124472	Human embryonic kidney organoid	H. sapiens	18,079
E-MTAB-8530	Lung adenocarcinoma circulating tumor cells	H. sapiens	9,812
E-GEOD-84465	Glioblastoma infiltrating cells	H. sapiens	3,588
E-MTAB-9388	Human gastrulation atlas	H. sapiens	1,195
E-GEOD-109979	H9 endoderm differentiation	H. sapiens	329

Disease	Classification	Inheritance	Submitter
Inflammatory fibroid polyps (gastrointestinal)	Definitive	AD	G2P
Inflammatory fibroid polyps (gastrointestinal)	Strong	AD	Genomics England
Inflammatory fibroid polyps (gastrointestinal)	Moderate	AD	Ambry Genetics
Gastrointestinal stromal tumor (GIST)	Strong	AD	Labcorp Genetics
Isolated cleft palate	Limited	Unknown	Labcorp Genetics

Orphanet ID	Disease Name	Type
44890	Gastrointestinal stromal tumor	Disease
168947	Myeloid/lymphoid neoplasm with PDGFRA rearrangement	Disease
168940	Chronic eosinophilic leukemia	Disease
314950	Primary hypereosinophilic syndrome	Disease
585877	B-lymphoblastic leukemia/lymphoma with recurrent abnormality	Etiological subtype
199306	Cleft lip/palate	Morphological anomaly

HPO ID	Phenotype
HP:0000006	Autosomal dominant inheritance
HP:0003745	Sporadic
HP:0001442	Typified by somatic mosaicism
HP:0100723	Gastrointestinal stroma tumor
HP:0007378	Neoplasm of the gastrointestinal tract
HP:0006753	Neoplasm of the stomach
HP:0100273	Neoplasm of the colon
HP:0100743	Neoplasm of the rectum
HP:0100751	Esophageal neoplasm
HP:0100833	Neoplasm of the small intestine
HP:0100242	Sarcoma
HP:0200008	Intestinal polyposis
HP:0001880	Increased total eosinophil count
HP:0005547	Myeloproliferative disorder
HP:0000175	Cleft palate
HP:0000202	Orofacial cleft
HP:0100334	Unilateral cleft palate
HP:0100337	Bilateral cleft palate
HP:0000220	Velopharyngeal insufficiency
HP:0001611	Hypernasal speech
HP:0009088	Speech articulation difficulties
HP:0010294	Palate fistula
HP:0000327	Hypoplasia of the maxilla
HP:0000689	Dental malocclusion
HP:0006292	Abnormality of dental eruption
HP:0006342	Peg-shaped maxillary lateral incisors
HP:0011044	Abnormal number of permanent teeth
HP:0200153	Agenesis of lateral incisor
HP:0001723	Restrictive cardiomyopathy
HP:0006685	Endocardial fibrosis
HP:0001744	Splenomegaly
HP:0002240	Hepatomegaly
HP:0001392	Abnormality of the liver
HP:0001903	Anemia
HP:0002239	Gastrointestinal hemorrhage
HP:0002576	Intussusception
HP:0005214	Intestinal obstruction
HP:0002015	Dysphagia
HP:0200136	Oral-pharyngeal dysphagia
HP:0002017	Nausea and vomiting
HP:0002019	Constipation
HP:0002033	Poor suck
HP:0008872	Feeding difficulties in infancy
HP:0004395	Malnutrition
HP:0012378	Fatigue
HP:0003326	Myalgia
HP:0000988	Skin rash
HP:0000989	Pruritus
HP:0007400	Irregular hyperpigmentation
HP:0004936	Venous thrombosis

Study ID	Trait	Mapped Gene Region	P-value
GCST005993_89	Mean corpuscular hemoglobin	LINC02283 - LINC02260	6.0e-109
GCST006011_105	Mean corpuscular volume	LINC02283 - LINC02260	3.0e-126
GCST005996_35	Red blood cell count	LINC02283 - LINC02260	1.0e-93
GCST007269_46	Pulse pressure	LNX1 - RPL21P44	3.0e-29
GCST000585_9	Mean corpuscular volume	LINC02283 - LINC02260	2.0e-29
GCST000587_5	Mean corpuscular hemoglobin	LINC02283 - LINC02260	3.0e-25
GCST005994_20	Hematocrit	LINC02283 - LINC02260	2.0e-20
GCST008413_2	Core binding factor AML	GSX2 - RPL22P13; PDGFRA	3.0e-18
GCST009158_10	Uterine fibroids	LNX1	5.0e-18
GCST000588_1	Red blood cell count	LINC02283 - LINC02260	2.0e-17
GCST005995_8	Hemoglobin	LINC02283 - LINC02260	6.0e-16
GCST009724_93	Vertical cup-disc ratio	GSX2 - RPL22P13	1.0e-15
GCST009724_94	Vertical cup-disc ratio	RPL22P13 - PDGFRA	1.0e-14
GCST001803_1	Corneal curvature	RPL22P13	5.0e-14
GCST009723_52	Vertical cup-disc ratio	PDGFRA	4.0e-12
GCST004332_4	Red blood cell count	LINC02283 - LINC02260	4.0e-10
GCST006462_49	Uterine fibroids	GSX2 - RPL22P13	9.0e-10
GCST006976_71	Macular thickness	GSX2 - RPL22P13	8.0e-10
GCST001101_2	Corneal curvature	RPL22P13 - PDGFRA	1.0e-9
GCST005991_10	Platelet count	LINC02283 - LINC02260	7.0e-9
GCST007267_265	Systolic blood pressure	LNX1 - RPL21P44	2.0e-9
GCST001339_4	Corneal astigmatism	PDGFRA	8.0e-9
GCST002502_4	Corneal curvature	RPL22P13 - PDGFRA	8.0e-9
GCST005803_1	Corneal astigmatism	RPL22P13 - PDGFRA	6.0e-9
GCST008413_3	Core binding factor AML	GSX2 - RPL22P13; PDGFRA	6.0e-8
GCST006585_2369	Blood protein levels	PDGFRA	1.0e-7
GCST002698_1	Serum VEGFR2 concentration	LNX1 - RPL21P44	5.0e-25
GCST000136_2	Height	LINC02283	4.0e-7
GCST002479_6	Lupus nephritis in SLE	GSX2 - RPL22P13	5.0e-7
...	...	...	...

Category	Count
Gene Identifiers
Total cross-references	8,907+
Transcripts
Ensembl transcripts	23
RefSeq transcripts (human)	5
CCDS IDs	1
Exons (canonical)	23
Protein
UniProt entries	1 (reviewed)
Protein length	1,089 aa
InterPro domains	15
Structures
PDB structures	15
AlphaFold model	1
Variants
ClinVar total	3,760
Pathogenic	6
Likely pathogenic	1
SpliceAI predictions	4,137
AlphaMissense predictions	7,179
Pathways & GO
Reactome pathways	13
GO terms	70
Interactions
STRING interactions	4,664+
BioGRID interactions	432+
ESM2 similar proteins	151
DIAMOND similar proteins	98
Regulation
Upstream TF regulators	26
Drugs
Phase 4 (approved) drugs	24
Phase 3 drugs	21
ChEMBL activities	1,394+
Expression
Tissues expressed	289
Single-cell datasets	21
Disease
GenCC associations	5
Orphanet associations	6
HPO phenotypes	55
GWAS associations	34