Provide a comprehensive cross-database identifier and functional mapping reference for human FGFR3. 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 FGFR3. 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

FGFR3 - Comprehensive Cross-Database Identifier and Functional Mapping Reference
Section 1: Gene Identifiers Core Gene Identifiers
DatabaseIdentifierDescription HGNCHGNC:3690Approved symbol: FGFR3 EnsemblENSG00000068078Fibroblast growth factor receptor 3 NCBI Entrez2261Gene ID OMIM134934Gene/Locus MIM number PharmGKBPA28129VIP Gene Gene Names and Aliases TypeValue Approved NameFibroblast growth factor receptor 3 Previous SymbolsACH Previous NamesAchondroplasia, thanatophoric dwarfism …

Parameter	Value
Chromosome	4
Cytogenetic Band	4p16.3
Start Position	1,793,286 (GRCh38)
End Position	1,808,873 (GRCh38)
Strand	+ (Forward)
Genomic Accession	NC_000004.12
Gene Length	~15.6 kb

Transcript ID	Biotype	Start	End	UTR5	UTR3
ENST00000440486	protein_coding	1,793,293	1,808,867	1,793,833-1,793,934	1,807,263-1,808,867
ENST00000340107	protein_coding	1,793,293	1,808,867	1,793,833-1,793,934	1,807,263-1,808,867
ENST00000352904	protein_coding	1,793,896	1,807,322	1,793,896-1,793,934	1,807,263-1,807,322
ENST00000412135	protein_coding	1,793,293	1,808,872	1,793,833-1,793,934	1,807,263-1,808,872
ENST00000481110	protein_coding	1,793,301	1,808,791	1,793,833-1,793,934	1,807,289-1,808,791
ENST00000507588	protein_coding	1,801,462	1,803,739	-	-
ENST00000901225	protein_coding	1,793,293	1,808,873	1,793,833-1,793,934	1,807,263-1,808,873
ENST00000901226	protein_coding	1,793,734	1,808,873	1,793,734-1,793,934	1,807,263-1,808,873
ENST00000901227	protein_coding	1,793,739	1,808,869	1,793,739-1,793,934	1,807,263-1,808,869
ENST00000901228	protein_coding	1,793,783	1,808,870	1,793,783-1,793,934	1,807,263-1,808,870
ENST00000911470	protein_coding	1,793,286	1,808,871	1,793,833-1,793,934	1,807,263-1,808,871
ENST00000911471	protein_coding	1,793,288	1,808,871	1,793,833-1,793,934	1,807,263-1,808,871
ENST00000911472	protein_coding	1,793,295	1,808,870	1,793,833-1,793,934	1,807,263-1,808,870
ENST00000911473	protein_coding	1,793,295	1,808,867	1,793,833-1,793,934	1,807,263-1,808,867
ENST00000911474	protein_coding	1,793,873	1,808,871	1,793,873-1,793,934	1,807,263-1,808,871
ENST00000955401	protein_coding	1,793,288	1,808,872	1,793,833-1,793,934	1,807,263-1,808,872
ENST00000955402	protein_coding	1,793,294	1,808,865	1,793,833-1,793,934	1,807,263-1,808,865
ENST00000955403	protein_coding	1,793,670	1,808,864	1,793,670-1,793,934	1,807,263-1,808,864
ENST00000955404	protein_coding	1,793,731	1,808,867	1,793,731-1,793,934	1,807,263-1,808,867
ENST00000260795	nonsense_mediated_decay	1,793,312	1,807,275	1,793,833-1,793,934	1,807,116-1,807,275
ENST00000643463	protein_coding_CDS_not_defined	1,801,912	1,804,520	-	-
ENST00000469068	retained_intron	1,804,492	1,805,859	-	-
ENST00000474521	retained_intron	1,801,629	1,803,152	-	-

Accession	Type	Status	MANE Select
NM_000142	mRNA	REVIEWED	✓ YES (Canonical)
NM_001163213	mRNA	REVIEWED	No
NM_001354809	mRNA	REVIEWED	No
NM_001354810	mRNA	REVIEWED	No
NM_022965	mRNA	REVIEWED	No
NR_148971	ncRNA	REVIEWED	No
XM_006713868-XM_054349268	mRNA	PREDICTED	No

CCDS ID	Notes
CCDS3353	Consensus CDS
CCDS3354	Consensus CDS
CCDS54706	Consensus CDS
CCDS87200	Consensus CDS

Exon ID	Start	End	Length
ENSE00001744397	1,793,293	1,793,465	173 bp
ENSE00001596390	1,793,833	1,794,043	211 bp
ENSE00001164902	1,799,254	1,799,523	270 bp
ENSE00000778155	1,799,747	1,799,812	66 bp
ENSE00000933877	1,801,367	1,801,536	170 bp
ENSE00000778157	1,801,620	1,801,743	124 bp
ENSE00003494331	1,801,835	1,802,025	191 bp
ENSE00000778159	1,803,692	1,803,836	145 bp
ENSE00000778160	1,804,330	1,804,520	191 bp
ENSE00000843002	1,804,824	1,804,969	146 bp
ENSE00003521592	1,805,355	1,805,476	122 bp
ENSE00003655496	1,805,559	1,805,669	111 bp
ENSE00001768214	1,805,750	1,805,940	191 bp
ENSE00001604810	1,806,051	1,806,173	123 bp
ENSE00001676483	1,806,257	1,806,327	71 bp
ENSE00003575180	1,806,546	1,806,683	138 bp
ENSE00003518612	1,806,829	1,806,934	106 bp
ENSE00002246626	1,807,116	1,808,867	1,752 bp

FGFR3 Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Description
HGNC	HGNC:3690	Approved symbol: FGFR3
Ensembl	ENSG00000068078	Fibroblast growth factor receptor 3
NCBI Entrez	2261	Gene ID
OMIM	134934	Gene/Locus MIM number
PharmGKB	PA28129	VIP Gene

Type	Value
Approved Name	Fibroblast growth factor receptor 3
Previous Symbols	ACH
Previous Names	Achondroplasia, thanatophoric dwarfism
Aliases	CEK2, JTK4, CD333, HSFGFR3EX
Locus Type	Gene with protein product
Gene Groups	Receptor tyrosine kinases, CD molecules, I-set domain containing

Accession	Status	Notes
P22607	✓ Reviewed (Swiss-Prot)	Canonical entry
A0A7I2RW32	Unreviewed	TrEMBL
F8W9L4	Unreviewed	TrEMBL
I6LM06	Unreviewed	TrEMBL
Q96T34	Unreviewed	TrEMBL
X5D2G8	Unreviewed	TrEMBL

Property	Value
Protein Name	Fibroblast growth factor receptor 3
Length	806 amino acids
Molecular Mass	87,710 Da
EC Number	2.7.10.1 (Receptor protein-tyrosine kinase)

Accession	Status	MANE Select
NP_000133	REVIEWED	✓ YES
NP_001156685	REVIEWED	No
NP_001341738	REVIEWED	No
NP_001341739	REVIEWED	No
NP_075254	REVIEWED	No

InterPro ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR008266	Tyr_kinase_AS	Active_site
IPR013098	Ig_I-set	Domain
IPR016248	FGF_rcpt_fam	Family
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR020635	Tyr_kinase_cat_dom	Domain
IPR050122	RTK	Family
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily

PDB ID	Title	Method	Resolution
1RY7	FGFR3c in complex with FGF1	X-RAY	3.2 Å
2LZL	FGFR3 transmembrane domain	NMR	-
4K33	FGFR3 kinase K650E mutant (thanatophoric dysplasia)	X-RAY	2.34 Å
6LVM	FGFR3 with pyrimidine inhibitor	X-RAY	2.53 Å
6PNX	Asymmetric dimer of FGFR3 kinases	X-RAY	2.20 Å
7DHL	FGFR3 with pyrimidine inhibitor	X-RAY	2.57 Å
7YSU	FGF23-FGFR3c-αKlotho-HS complex	Cryo-EM	3.2 Å
8UDT	FGFR3 with KIN-3248 inhibitor	X-RAY	2.83 Å
8UDU	FGFR3 with Compound 17	X-RAY	1.74 Å
8UDV	FGFR3 V555M with Compound 17	X-RAY	2.35 Å
9CD7	FGFR3 with TYRA-300 inhibitor	X-RAY	2.53 Å
9D1X	FGFR3 with indazole inhibitor	X-RAY	1.6 Å
9KFU	FGFR3 with inhibitor F1	X-RAY	1.4 Å

Species	Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000054252	Fgfr3	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000016818	Fgfr3	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000004782	fgfr3	protein_coding
Fruit fly (D. melanogaster)	No ortholog found	-	-
Worm (C. elegans)	No ortholog found	-	-
Yeast (S. cerevisiae)	No ortholog found	-	-

Classification	Count
Pathogenic	36
Likely Pathogenic	14
Uncertain Significance (VUS)	100+
Conflicting interpretations	Multiple
Likely Benign	Multiple
Benign	Multiple

ClinVar ID	HGVS Notation	Protein Change	Associated Condition
16327	c.1138G>A	p.Gly380Arg	Achondroplasia (most common)
16328	c.1138G>C	p.Gly380Arg	Achondroplasia
16331	c.1948A>G	p.Lys650Glu	Thanatophoric dysplasia II
16341	c.1949A>T	p.Lys650Met	SADDAN syndrome
16348	c.1948A>C	p.Lys650Gln	Hypochondroplasia
16337	c.1620C>A	p.Asn540Lys	Hypochondroplasia
16332	c.742C>T	p.Arg248Cys	Craniosynostosis (Muenke)
16339	c.746C>G	p.Ser249Cys	Craniosynostosis
16329	c.1172C>A	p.Ala391Glu	Crouzon-acanthosis nigricans
16333	c.1111A>T	p.Ser371Cys	Thanatophoric dysplasia I
16342	c.1118A>G	p.Tyr373Cys	Thanatophoric dysplasia I
16330	c.1123G>T	p.Gly375Cys	Skeletal dysplasia
16359	c.1108G>T	p.Gly370Cys	Thanatophoric dysplasia I
16356	c.835A>T	p.Ser279Cys	Muenke syndrome
16334	c.2419T>G	p.Ter807Gly	Stop-loss variant
16335	c.2419T>A	p.Ter807Arg	Stop-loss variant
65562	c.2420G>T	p.Ter807Leu	Stop-loss variant
994395	c.2420G>C	p.Ter807Ser	Stop-loss variant
16346	c.1950G>T	p.Lys650Asn	Skeletal dysplasia
65855	c.1949A>C	p.Lys650Thr	Skeletal dysplasia
16355	c.1862G>A	p.Arg621His	Skeletal dysplasia
1065490	c.1954A>G	p.Thr652Ala	Skeletal dysplasia
649812	c.1052C>T	p.Ser351Phe	Skeletal dysplasia
1526266	c.1043C>G	p.Ser348Cys	Skeletal dysplasia
65826	c.1024G>T	p.Gly342Cys	Skeletal dysplasia
16336	c.2421A>T	p.Ter807Cys	Stop-loss variant
65563	c.2421A>C	p.Ter807Cys	Stop-loss variant
16352	c.850del	p.His284fs	Frameshift
1680030	c.791C>T	p.Thr264Met	Skeletal dysplasia
1680033	c.802G>T	p.Gly268Cys	Skeletal dysplasia
156545	c.1637C>A	p.Thr546Lys	Skeletal dysplasia
16351	c.964G>A	p.Glu322Lys	Skeletal dysplasia
2582275	c.1196G>A	p.Arg399His	Skeletal dysplasia
2582277	c.1910G>A	p.Gly637Glu	Skeletal dysplasia
2582278	c.2089G>A	p.Gly697Ser	Skeletal dysplasia
16343	t(4;14) translocation	-	Multiple myeloma

Variant	Effect	Delta Score
4:1793463:CAG>C	donor_loss	0.99
4:1793466:G>GA	donor_loss	0.99
4:1793467:T>A	donor_loss	0.99
4:1793831:A>AG	acceptor_gain	0.99
4:1793832:G>GG	acceptor_gain	0.99
4:1793597:A>T	donor_gain	0.98
4:1793466:G>GG	donor_gain	0.96
4:1793832:GT>G	acceptor_gain	0.95
4:1793623:G>GT	donor_gain	0.95
4:1793827:CTGTA>C	acceptor_loss	0.94
4:1793828:TGTA>T	acceptor_loss	0.94
4:1793829:GTA>G	acceptor_loss	0.94
4:1793830:TAGT>T	acceptor_loss	0.94
4:1793831:A>C	acceptor_loss	0.94
4:1793832:G>GA	acceptor_loss	0.94
4:1793461:GCCAG>G	donor_gain	0.93
4:1793643:G>GT	donor_gain	0.93
4:1794039:GGCAG>G	donor_gain	0.97
4:1793622:G>GT	donor_gain	0.91
4:1793623:G>T	donor_gain	0.91

Variant	Protein Change	AM Score	Classification
4:1801378:T>A	W153R	0.999	likely_pathogenic
4:1801378:T>C	W153R	0.999	likely_pathogenic
4:1801380:G>C	W153C	0.999	likely_pathogenic
4:1801380:G>T	W153C	0.999	likely_pathogenic
4:1801379:G>C	W153S	0.997	likely_pathogenic
4:1799463:T>G	Y107D	0.996	likely_pathogenic
4:1799364:T>A	W74R	0.994	likely_pathogenic
4:1799364:T>C	W74R	0.994	likely_pathogenic
4:1799366:G>C	W74C	0.994	likely_pathogenic
4:1799366:G>T	W74C	0.994	likely_pathogenic
4:1801378:T>G	W153G	0.991	likely_pathogenic
4:1801373:C>G	P151R	0.991	likely_pathogenic
4:1801372:C>T	P151S	0.989	likely_pathogenic
4:1799463:T>A	Y107N	0.986	likely_pathogenic
4:1801372:C>A	P151T	0.983	likely_pathogenic
4:1799365:G>C	W74S	0.978	likely_pathogenic
4:1801379:G>T	W153L	0.976	likely_pathogenic
4:1799464:A>C	Y107S	0.972	likely_pathogenic
4:1799425:T>C	L94P	0.969	likely_pathogenic
4:1799463:T>C	Y107H	0.968	likely_pathogenic
4:1799469:T>A	C109S	0.965	likely_pathogenic
4:1799372:G>C	K76N	0.963	likely_pathogenic
4:1799325:T>C	C61R	0.947	likely_pathogenic
4:1799364:T>G	W74G	0.943	likely_pathogenic
4:1799451:G>C	D103H	0.943	likely_pathogenic
4:1799320:T>C	L59P	0.938	likely_pathogenic
4:1799470:G>A	C109Y	0.937	likely_pathogenic
4:1799458:G>A	G105E	0.930	likely_pathogenic
4:1799326:G>A	C61Y	0.928	likely_pathogenic
4:1799327:T>G	C61W	0.927	likely_pathogenic
4:1799452:A>G	D103G	0.926	likely_pathogenic
4:1801397:T>A	M159K	0.924	likely_pathogenic
4:1799512:T>A	V123E	0.919	likely_pathogenic
4:1799452:A>C	D103A	0.916	likely_pathogenic
4:1799425:T>G	L94R	0.913	likely_pathogenic
4:1801385:G>C	R155P	0.912	likely_pathogenic
4:1799458:G>T	G105V	0.911	likely_pathogenic
4:1799325:T>A	C61S	0.905	likely_pathogenic
4:1801394:G>C	R158P	0.903	likely_pathogenic
4:1799452:A>T	D103V	0.896	likely_pathogenic

Pathway ID	Pathway Name	Disease Pathway
R-HSA-190371	FGFR3b ligand binding and activation	No
R-HSA-190372	FGFR3c ligand binding and activation	No
R-HSA-5654227	Phospholipase C-mediated cascade; FGFR3	No
R-HSA-5654704	SHC-mediated cascade:FGFR3	No
R-HSA-5654706	FRS-mediated FGFR3 signaling	No
R-HSA-5654710	PI-3K cascade:FGFR3	No
R-HSA-5654732	Negative regulation of FGFR3 signaling	No
R-HSA-109704	PI3K Cascade	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-1839130	Signaling by activated point mutants of FGFR3	Yes
R-HSA-2033515	t(4;14) translocations of FGFR3	Yes
R-HSA-5655332	Signaling by FGFR3 in disease	Yes
R-HSA-8853334	Signaling by FGFR3 fusions in cancer	Yes
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer	Yes

GO ID	Term Name
GO:0000165	MAPK cascade
GO:0001501	skeletal system development
GO:0001958	endochondral ossification
GO:0002062	chondrocyte differentiation
GO:0003416	endochondral bone growth
GO:0007259	cell surface receptor signaling pathway via JAK-STAT
GO:0007267	cell-cell signaling
GO:0008284	positive regulation of cell population proliferation
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0010518	positive regulation of phospholipase activity
GO:0030282	bone mineralization
GO:0035988	chondrocyte proliferation
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein
GO:0043410	positive regulation of MAPK cascade
GO:0048640	negative regulation of developmental growth
GO:0051897	positive regulation of PI3K/AKT signaling
GO:0060349	bone morphogenesis
GO:0070374	positive regulation of ERK1 and ERK2 cascade
GO:0070977	bone maturation
GO:1902178	fibroblast growth factor receptor apoptotic signaling pathway

GO ID	Term Name
GO:0004713	protein tyrosine kinase activity
GO:0005007	fibroblast growth factor receptor activity
GO:0005524	ATP binding
GO:0017134	fibroblast growth factor binding
GO:0042802	identical protein binding

GO ID	Term Name
GO:0005576	extracellular region
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0030133	transport vesicle
GO:0043235	receptor complex

UniProt ID	Gene	Interaction Score
P22607	FGFR3 (self)	997
P09038	FGF2	997
Q92913	FGF18	997
P05230	FGF1	995
P31371	FGF9	995
P55075	FGF8	995
O76093	FGF20	994
O60258	FGF17	956
Q9UEF7	SLC39A10	938
Q9Y6A5	TACC3	938
Q9GZV9	FGFR1OP2	937
O15520	FGF10	932
P11487	FGF3	932
P42336	PIK3CA	902
P0DP08	CALM1	896
P21781	FGF7	882
Q15672	TWIST1	881
P10767	FGF6	879
P12034	FGF5	878
Q9NP95	FGF20	877
Q9HCT0	FGF22	876
P08620	FGF4	869
O43320	FGF16	839
O96028	FGF14	839
P01112	HRAS	822
Q9NSA1	FGF21	815
O75410	TACC1	806
P01111	NRAS	806
O95750	FGF19	790
P42771	CDKN2A	776
Q86Z14	PLEKHA8P1	774
P13931	FGF12	769
P23582	FGF13	764
P02458	COL2A1	758
Q14623	IHH	749
P01133	EGF	733
P35548	SP7	731
P04637	TP53	717
P11362	FGFR1	715
P01116	KRAS	709
Q13950	RUNX2	673
P12272	PTHLH	661
P22455	FGFR4	647
P29354	SRC	646
P18443	FGFR2	645
Q8WU20	USP8	638
P60484	PTEN	635
O15266	SHOX	631
O95359	TACC2	623
P24385	CCND1	620

Interactor Gene	Interaction Type	Score
FGFR3 (self-homodimer)	phosphorylation reaction	0.73
FGFR3 (self)	direct interaction	0.73
STIM1	physical association	0.66
FGF1	direct interaction	0.44
FGF8	direct interaction	0.44
FGFR2	phosphorylation reaction	0.44
CDK2	physical association	0.56
CDKN1A	physical association	0.56
EZH2	physical association	0.56
JUN	physical association	0.56
MYC	physical association	0.56
TP53 (indirect via GATA proteins)	physical association	0.56

UniProt ID	Top Similarity	Avg Similarity
Q62888	1.0000	0.9706
Q69ZK9	1.0000	0.9707
P11362 (FGFR1)	0.9999	0.9908
P16092 (FGFR2)	0.9999	0.9910
Q04589	0.9999	0.9910
A0JM20	0.9998	0.9834
P55144	0.9998	0.9833
Q8QFP9	0.9998	0.9833
Q498D6	0.9998	0.9843
Q03142	0.9998	0.9843
P21802	0.9997	0.9874
P21803	0.9997	0.9882
P18461	0.9997	0.9883
O70468	0.9996	0.9663
P56741	0.9996	0.9668
Q13308	0.9995	0.9835
Q14160	0.9995	0.9710
A0A8P0N4K0	0.9995	0.9705
Q8BKG3	0.9995	0.9837
P22607 (self)	0.9994	0.9866

UniProt ID	Top Identity	Bitscore
A0M8S8	100.0%	2803
A0M8R7	99.3%	2784
P08922	79.5%	3798
P08581	99.8%	2813
P0DV84	89.1%	2845
P13368	62.3%	2871
G5ED65	39.5%	744
P24062	99.5%	2784
P06213	99.5%	2691
P15127	97.8%	2774
P16056	95.3%	2675
P97523	95.3%	2674
P35917	95.9%	2650
P97603	92.6%	2590
P08069	97.7%	2685
O08775	95.2%	2575
P35918	95.2%	2582
P53767	92.6%	2469
P35969	92.6%	2469
P14616	89.8%	2388

TF Gene	Regulation Type	Confidence
PROX1	Activation	High
SRF	Activation	High
TP63	-	High
TP73	-	High
ASCL2	-	High
RUNX2	Activation	Low
SHOX	Activation	-
SP1	Unknown	-
SP3	Unknown	-
SP4	Unknown	-
EGR1	Unknown	-
STAT1	Repression	-
DNMT3B	Repression	Low
ESR1	-	Low
NR2F2	-	Low
SPI1	-	Low
ZBTB16	-	Low
ZNF699	-	Low

Entity A	Entity B	Effect	Mechanism
FGF1	FGFR3	up-regulates	binding
FGF2	FGFR3	up-regulates	binding
FGFR3	FGFR3	up-regulates activity	phosphorylation (autophosphorylation)
FGFR3	STAT1	up-regulates activity	phosphorylation
FGFR3	STAT3	up-regulates activity	phosphorylation
FGFR3	PTEN	unknown	phosphorylation
FGFR3	MAP3K7	up-regulates activity	phosphorylation
FGFR3	TET2	down-regulates	phosphorylation/destabilization
FGFR3	ICK	down-regulates activity	phosphorylation
FGFR3	Glo1	up-regulates activity	phosphorylation
hsa-mir-152-3p	FGFR3	down-regulates	post-transcriptional
BGJ-398 (Infigratinib)	FGFR3	down-regulates	chemical inhibition
PD173074	FGFR3	down-regulates	chemical inhibition
nintedanib	FGFR3	down-regulates activity	chemical inhibition
pazopanib	FGFR3	down-regulates activity	chemical inhibition
ponatinib	FGFR3	down-regulates activity	chemical inhibition

Target ID	Target Name	Type
CHEMBL2742	Fibroblast growth factor receptor 3	SINGLE PROTEIN
CHEMBL2095217	Fibroblast growth factor receptor	PROTEIN FAMILY
CHEMBL5291680	Protein cereblon/FGFR3	PROTEIN-PROTEIN INTERACTION

ChEMBL ID	Drug Name	Indication/Mechanism
CHEMBL3545376	ERDAFITINIB	Selective FGFR inhibitor (bladder cancer)
CHEMBL1852688	INFIGRATINIB	Selective FGFR inhibitor (cholangiocarcinoma)
CHEMBL3701238	FUTIBATINIB	Selective FGFR inhibitor
CHEMBL4297522	PEMIGATINIB	Selective FGFR inhibitor (cholangiocarcinoma)
CHEMBL1171837	PONATINIB	Multi-kinase inhibitor (CML)
CHEMBL1287853	FEDRATINIB	JAK2/FLT3 inhibitor
CHEMBL1289926	AXITINIB	VEGFR/PDGFR inhibitor (RCC)
CHEMBL1336	SORAFENIB	Multi-kinase inhibitor (HCC/RCC)
CHEMBL1983268	ENTRECTINIB	TRKA/B/C, ROS1, ALK inhibitor
CHEMBL24828	VANDETANIB	VEGFR/EGFR inhibitor (thyroid cancer)
CHEMBL3039504	NINTEDANIB ESYLATE	Triple angiokinase inhibitor
CHEMBL502835	NINTEDANIB	Triple angiokinase inhibitor (IPF)
CHEMBL3545311	BRIGATINIB	ALK inhibitor
CHEMBL477772	PAZOPANIB	Multi-kinase inhibitor (RCC/STS)
CHEMBL535	SUNITINIB	Multi-kinase inhibitor (GIST/RCC)
CHEMBL601719	CRIZOTINIB	ALK/MET/ROS1 inhibitor
CHEMBL608533	MIDOSTAURIN	Multi-kinase inhibitor (AML)
CHEMBL2403108	CERITINIB	ALK inhibitor
CHEMBL5416410	DASATINIB	BCR-ABL/SRC inhibitor (CML)

ChEMBL ID	Drug Name
CHEMBL223360	LINIFANIB
CHEMBL377300	BRIVANIB
CHEMBL483158	ALISERTIB
CHEMBL491473	CEDIRANIB
CHEMBL522892	DOVITINIB
CHEMBL603469	LESTAURTINIB

Field	Value
PharmGKB ID	PA28129
VIP Gene	Yes
CPIC Guidelines	No
Associated Drugs	Brivanib, Erdafitinib

Partner A (Ligand)	Partner B (Receptor)	Classification
FGF1 (P05230)	FGFR3 (P22607)	Signaling by Fibroblast growth factor
FGF2 (P09038)	FGFR3 (P22607)	Signaling by Fibroblast growth factor
FGF8 (P55075)	FGFR3 (P22607)	Signaling by Fibroblast growth factor
FGF9 (P31371)	FGFR3 (P22607)	Signaling by Fibroblast growth factor
FGF17 (O60258)	FGFR3 (P22607)	Signaling by Fibroblast growth factor
FGF20 (Q9NP95)	FGFR3 (P22607)	Signaling by Fibroblast growth factor

Parameter	Value
Gene	ENSG00000068078 (FGFR3)
Species	Homo sapiens
Expression Breadth	Ubiquitous
Total Present Calls	262
Max Expression Score	99.52

Tissue	Expression Score	Quality	Rank
Upper leg skin	99.52	Gold	223
Skin of hip	99.40	Gold	281
Upper arm skin	99.28	Gold	338
Gingival epithelium	99.13	Gold	409
Tibia	99.08	Gold	429
Gingiva	99.00	Gold	469
Lateral globus pallidus	98.95	Gold	488
Cervix squamous epithelium	98.90	Gold	514
Dorsal motor nucleus of vagus	98.75	Gold	585
Medial globus pallidus	98.73	Gold	594
Globus pallidus	98.69	Gold	609
Optic nerve (cranial nerve II)	98.62	Gold	646
Skin of abdomen	98.58	Gold	663
Penis	98.51	Gold	695
Inferior olivary complex	98.46	Gold	719
Pharyngeal mucosa	98.34	Gold	776
Pancreatic ductal cell	98.32	Gold	783
Nipple	98.31	Gold	790
Zone of skin	98.30	Gold	792
Squamous epithelium	98.23	Gold	825
Skin of leg	98.22	Gold	829
Ventricular zone (brain)	98.19	Gold	846
Lower esophagus mucosa	98.18	Gold	849
Ventral tegmental area	98.08	Gold	897
Renal medulla	97.95	Gold	955
Medulla oblongata	97.84	Gold	1010
Superior vestibular nucleus	97.78	Gold	1040
Nucleus accumbens	97.75	Gold	1050
Esophagus squamous epithelium	97.67	Gold	1090
Periodontal ligament	97.66	Gold	1090

Disease	OMIM ID	Inheritance	Evidence Level
Achondroplasia	OMIM:100800	Autosomal dominant	Definitive
Thanatophoric dysplasia type 1	OMIM:187600	Autosomal dominant	Definitive
Thanatophoric dysplasia type 2	OMIM:187601	Autosomal dominant	Definitive
Hypochondroplasia	OMIM:146000	Autosomal dominant	Definitive
Muenke syndrome	OMIM:602849	Autosomal dominant	Definitive
Crouzon syndrome-acanthosis nigricans	OMIM:612247	Autosomal dominant	Definitive
CATSHL syndrome	OMIM:610474	AD/AR	Definitive
SADDAN syndrome	OMIM:616482	Autosomal dominant	Strong
LADD syndrome 2	OMIM:620192	Autosomal dominant	Definitive
LADD syndrome 1	OMIM:149730	Autosomal dominant	Limited

Orphanet ID	Disease Name	Type	Phenotype Count
ORPHA:15	Achondroplasia	Disease	39
ORPHA:429	Hypochondroplasia	Disease	20
ORPHA:1860	Thanatophoric dysplasia type 1	Clinical subtype	40
ORPHA:93274	Thanatophoric dysplasia type 2	Clinical subtype	35
ORPHA:53271	Muenke syndrome	Malformation syndrome	21
ORPHA:93262	Crouzon syndrome-acanthosis nigricans	Malformation syndrome	28
ORPHA:85164	CATSHL syndrome	Disease	4
ORPHA:85165	SADDAN syndrome	Disease	14
ORPHA:2363	Lacrimoauriculodentodigital syndrome	Malformation syndrome	63
ORPHA:794	Saethre-Chotzen syndrome	Malformation syndrome	61
ORPHA:35099	Non-syndromic bicoronal craniosynostosis	Morphological anomaly	11
ORPHA:251576	Gliosarcoma	Histopathological subtype	0
ORPHA:251579	Giant cell glioblastoma	Histopathological subtype	0

HPO ID	Phenotype Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0001156	Brachydactyly
HP:0000926	Platyspondyly
HP:0000256	Macrocephaly
HP:0000944	Abnormal metaphysis morphology
HP:0000365	Hearing impairment
HP:0000470	Short neck
HP:0000773	Short ribs
HP:0000774	Narrow chest
HP:0000248	Brachycephaly
HP:0001513	Obesity
HP:0000520	Proptosis
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0000347	Micrognathia
HP:0000175	Cleft palate
HP:0000238	Hydrocephalus
HP:0001159	Syndactyly
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000272	Malar flattening
HP:0000218	High palate
HP:0000189	Narrow palate
HP:0000956	Acanthosis nigricans
HP:0000098	Tall stature
HP:0000767	Pectus excavatum
HP:0000407	Sensorineural hearing impairment
HP:0000405	Conductive hearing impairment
HP:0000270	Delayed cranial suture closure
HP:0000337	Broad forehead
HP:0000348	High forehead
HP:0001166	Arachnodactyly
HP:0000648	Optic atrophy
HP:0000505	Visual impairment
HP:0000668	Hypodontia
HP:0000682	Abnormal dental enamel morphology
HP:0000689	Dental malocclusion
HP:0000403	Recurrent otitis media
HP:0000452	Choanal stenosis
HP:0000453	Choanal atresia
HP:0000463	Anteverted nares
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0001172	Abnormal thumb morphology
HP:0000126	Hydronephrosis
HP:0000089	Renal hypoplasia
HP:0000076	Vesicoureteral reflux
HP:0000813	Bicornuate uterus
HP:0000131	Uterine leiomyoma

Study ID	Trait	P-value	Mapped Gene
GCST002240_3	Bladder cancer	7.0e-25	TACC3
GCST000842_6	Bladder cancer	4.0e-13	TACC3
GCST000639_2	Urinary bladder cancer	1.0e-11	TACC3
GCST006585_940	Blood protein levels	7.0e-10	TACC3-FGFR3
GCST90020028_1391	Hip circumference adjusted for BMI	7.0e-09	TACC3-FGFR3
GCST009391_1311	Metabolite levels	3.0e-06	LETM1

Category	Count
Ensembl Transcripts	23
RefSeq mRNA (human reviewed)	8
CCDS IDs	4
Exons (canonical transcript)	18
UniProt Entries	6
InterPro Domains	14
PDB Structures	13
Orthologs	3 (mouse, rat, zebrafish)
ClinVar Variants	1,154
Pathogenic Variants	36
SpliceAI Predictions	2,609
AlphaMissense Predictions	5,213
Reactome Pathways	16
GO Terms	32
STRING Interactions	3,043
IntAct Interactions	1,100
ESM2 Similar Proteins	56
DIAMOND Homologs	237
Upstream TF Regulators	18
FDA-Approved Targeting Drugs	18
GenCC Disease Associations	39
Orphanet Diseases	13
HPO Phenotypes	338
GWAS Associations	6
Bgee Expression Calls	262