Provide a comprehensive cross-database identifier and functional mapping reference for human TP63. 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 TP63. 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

TP63 - COMPREHENSIVE CROSS-DATABASE IDENTIFIER AND FUNCTIONAL MAPPING REFERENCE ╔══════════════════════════════════════════════════════════════════════════════╗ ║ TUMOR PROTEIN P63 (TP63) - HUMAN ║ ║ Complete Identifier Reference ║ ╚══════════════════════════════════════════════════════════════════════════════╝
Section 1: Gene Identifiers Primary Gene Identifiers
DatabaseIdentifierNotes HGNCHGNC:15979Approved symbol: TP63 EnsemblENSG00000073282GRCh38 NCBI Entrez8626 OMIM603273Gene/locus entry …

Attribute	Value
Chromosome	3
Cytogenetic band	3q28
Start position	189,631,389
End position	189,897,276
Strand	+ (plus/forward)
Genomic accession	NC_000003.12
Gene span	265,888 bp

Transcript ID	Biotype	Start	End	UTR5	UTR3
ENST00000264731	protein_coding	189631389	189897276	189631389-189631515	189894503-189897276
ENST00000320472	protein_coding	189631488	189894702	189631488-189631515	189894232-189894702
ENST00000354600	protein_coding	189789659	189897276	189789659-189789800	189894503-189897276
ENST00000392460	protein_coding	189631516	189894221	-	-
ENST00000392461	protein_coding	189789801	189894231	-	-
ENST00000392463	protein_coding	189789801	189894221	-	-
ENST00000418709	protein_coding	189631488	189881496	189631488-189631515	189880179-189881496
ENST00000434928	protein_coding	189789675	189864268	189789675-189789800	-
ENST00000437221	protein_coding	189789801	189881496	-	189880179-189881496
ENST00000440651	protein_coding	189631516	189894502	-	-
ENST00000449992	protein_coding	189789801	189894502	-	-
ENST00000456148	protein_coding	189789801	189894502	-	-
ENST00000460036	retained_intron	189789695	189873575	-	-
ENST00000486398	retained_intron	189631416	189738896	-	-

Exon ID	Start	End	Length
ENSE00001343828	189631389	189631577	189 bp
ENSE00003502961	189737740	189737868	129 bp
ENSE00001184832	189738642	189738774	133 bp
ENSE00003473100	189808272	189808526	255 bp
ENSE00003597426	189864232	189864418	187 bp
ENSE00003476123	189866682	189866797	116 bp
ENSE00003641501	189867833	189867942	110 bp
ENSE00003525444	189868580	189868716	137 bp
ENSE00003672778	189869324	189869406	83 bp
ENSE00000871463	189872859	189872995	137 bp
ENSE00001005407	189886394	189886551	158 bp
ENSE00000781605	189889340	189889484	145 bp
ENSE00000781606	189890789	189890882	94 bp
ENSE00001608550	189894206	189897276	3071 bp

Accession	Status	Notes
Q9H3D4	Reviewed (Swiss-Prot)	Canonical entry
A0A0S2Z4N5	Unreviewed (TrEMBL)	Isoform
A0A0S2Z4N6	Unreviewed (TrEMBL)	Isoform
C9D7D0	Unreviewed (TrEMBL)	Isoform
C9JW72	Unreviewed (TrEMBL)	Isoform

Property	Value
Name	Tumor protein 63
Alternative names	Chronic ulcerative stomatitis protein, Keratinocyte transcription factor KET, Transformation-related protein 63, Tumor protein p73-like, p40, p51
Length	680 amino acids
Mass	76,785 Da

TP63 Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Notes
HGNC	HGNC:15979	Approved symbol: TP63
Ensembl	ENSG00000073282	GRCh38
NCBI Entrez	8626
OMIM	603273	Gene/locus entry

Accession	Type	MANE Select	Notes
NM_003722.5	mRNA	YES	Canonical clinical standard
NM_001114978	mRNA	No
NM_001114979	mRNA	No
NM_001114980	mRNA	No
NM_001114981	mRNA	No
NM_001114982	mRNA	No
NM_001329144	mRNA	No
NM_001329145	mRNA	No
NM_001329146	mRNA	No
NM_001329148	mRNA	No
NM_001329149	mRNA	No
NM_001329150	mRNA	No
NM_001329964	mRNA	No

Accession	MANE Select
NP_003713.3	YES
NP_001108450	No
NP_001108451	No
NP_001108452	No
NP_001108453	No
NP_001108454	No
NP_001316073	No
NP_001316074	No
NP_001316075	No
NP_001316077	No
NP_001316078	No
NP_001316079	No
NP_001316893	No

InterPro ID	Name	Type
IPR002117	p53_tumour_suppressor	Family
IPR011615	p53_DNA-bd	Domain
IPR010991	p53_tetrameristn	Domain
IPR001660	SAM	Domain
IPR037611	Tumor-p63_SAM	Domain
IPR057064	P53_central_site	Conserved_site
IPR008967	p53-like_TF_DNA-bd_sf	Homologous_superfamily
IPR012346	p53/RUNT-type_TF_DNA-bd_sf	Homologous_superfamily
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR036674	p53_tetramer_sf	Homologous_superfamily

PDB ID	Method	Resolution	Title
1RG6	NMR	-	Solution structure of the C-terminal domain of p63
2NB1	NMR	-	P63/p73 hetero-tetramerisation domain
2RMN	NMR	-	Solution structure of the p63 DNA-binding domain
2Y9T	NMR	-	p63a SAM domain mutants (AEC syndrome)
2Y9U	X-ray	1.60 Å	p63a SAM domain mutants (AEC syndrome)
3QYM	X-ray	3.20 Å	p63 DBD with 10bp A/T rich response element
3QYN	X-ray	2.50 Å	p63 DBD with 22bp response element (2bp spacer)
3US0	X-ray	2.50 Å	p63 DBD with response element (AT spacer)
3US1	X-ray	2.80 Å	p63 DBD with response element (GC spacer)
3US2	X-ray	4.20 Å	p63 DBD with 19bp response element
3ZY0	X-ray	1.90 Å	p63 tetramerization domain (truncated)
3ZY1	X-ray	2.15 Å	p63 tetramerization domain
4A9Z	X-ray	2.29 Å	p63 tetramerization domain
6FGN	NMR	-	p300Taz2-p63TA solution structure
6RU6	X-ray	2.05 Å	CK1d with p63 PAD1P peptide
6RU7	X-ray	2.08 Å	CK1d with p63 PAD2P peptide
6RU8	X-ray	1.92 Å	CK1d with p63 PAD3P peptide
7Z71	X-ray	1.85 Å	p63 DBD with darpin C14
7Z72	X-ray	1.80 Å	p63 SAM with darpin A5
7Z73	X-ray	2.27 Å	p63 tetramerization with darpin 8F1
7Z7E	X-ray	1.80 Å	p63 DBD with inhibitory DARPin G4
8P9C	X-ray	1.76 Å	p63-p73 heterotetramer with darpin
8P9D	X-ray	2.70 Å	p63-p73 heterotetramer with darpin
8P9E	X-ray	2.25 Å	p63-p73 heterotetramer (WT) with darpin
9GFO	X-ray	2.40 Å	iASPP-CTD fusion to p63 peptide

Property	Value
AlphaFold ID	Q9H3D4
Global pLDDT	63.70
Sequence length	5382
Fraction very high confidence	0.35 (35%)

Organism	Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000022510	Trp63	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000001924	Tp63	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000044356	tp63	protein_coding
Fruit fly (Drosophila melanogaster)	FBGN0039044	p53	protein_coding
Worm (C. elegans)	No ortholog data available	-	-
Yeast (S. cerevisiae)	No ortholog data available	-	-

Classification	Count
Pathogenic	66
Likely pathogenic	50
Pathogenic/Likely pathogenic	~10
Uncertain significance (VUS)	~150
Likely benign	~200
Benign	~300
Conflicting	~10

Variant ID	HGVS	Type	Classification
6527	c.727C>T (p.Arg243Trp)	SNV	Pathogenic
6532	c.955C>T (p.Arg319Cys)	SNV	Pathogenic
208163	c.740A>G (p.His247Arg)	SNV	Pathogenic
265276	c.956G>A (p.Arg319His)	SNV	Pathogenic
279913	c.1027C>T (p.Arg343Trp)	SNV	Pathogenic
372540	c.1727T>C (p.Ile576Thr)	SNV	Pathogenic
650760	c.952C>T (p.Arg318Cys)	SNV	Pathogenic
208418	c.1037C>G (p.Ala346Gly)	SNV	Pathogenic
379608	c.935G>A (p.Cys312Tyr)	SNV	Pathogenic
6541	c.1052A>G (p.Asp351Gly)	SNV	Pathogenic
6548	c.1009C>G (p.Arg337Gly)	SNV	Pathogenic
544363	c.1063G>A (p.Asp355Asn)	SNV	Pathogenic
573933	c.694A>G (p.Lys232Glu)	SNV	Pathogenic
807713	c.1790T>C (p.Ile597Thr)	SNV	Pathogenic
1062831	c.1050A>T (p.Arg350Ser)	SNV	Pathogenic
650415	c.1693T>G (p.Phe565Val)	SNV	Pathogenic
544362	c.1799G>A (p.Gly600Asp)	SNV	Pathogenic
2579607	c.1039T>C (p.Cys347Arg)	SNV	Pathogenic
418520	c.1040G>T (p.Cys347Phe)	SNV	Pathogenic
2734605	c.518G>A (p.Gly173Asp)	SNV	Pathogenic
2734606	c.932G>A (p.Ser311Asn)	SNV	Pathogenic
1451179	c.1695C>A (p.Phe565Leu)	SNV	Pathogenic
3602195	c.1654T>G (p.Phe552Val)	SNV	Pathogenic
1018494	c.796C>T (p.Arg266Ter)	SNV	Pathogenic
1024583	c.1861del (p.Ser621fs)	Deletion	Pathogenic
194382	c.1837_1841del (p.Pro613fs)	Deletion	Pathogenic
576556	c.1350-2A>G	SNV	Pathogenic
3600613	c.580-2A>G	SNV	Pathogenic
30348	c.797G>C (p.Arg266Pro)	SNV	Likely pathogenic
372786	c.605A>G (p.Tyr202Cys)	SNV	Likely pathogenic
372787	c.1048A>G (p.Arg350Gly)	SNV	Likely pathogenic
373405	c.1682G>A (p.Cys561Tyr)	SNV	Likely pathogenic
381688	c.1805T>C (p.Leu602Pro)	SNV	Likely pathogenic
418521	c.1922C>T (p.Ala641Val)	SNV	Likely pathogenic
521882	c.500C>T (p.Ser167Phe)	SNV	Likely pathogenic
572273	c.497C>A (p.Pro166His)	SNV	Likely pathogenic
620399	c.1927C>T (p.Arg643Ter)	SNV	Likely pathogenic
651785	c.935G>T (p.Cys312Phe)	SNV	Likely pathogenic
653417	c.738C>G (p.Asn246Lys)	SNV	Likely pathogenic
846332	c.1061C>A (p.Ala354Glu)	SNV	Likely pathogenic
1178338	c.3G>T (p.Met1Ile)	SNV	Likely pathogenic
1299512	c.881A>G (p.Gln294Arg)	SNV	Likely pathogenic
1325219	c.970_972del (p.Ile324del)	Deletion	Likely pathogenic
1341520	c.1789A>T (p.Ile597Phe)	SNV	Likely pathogenic
1349518	c.1973G>A (p.Trp658Ter)	SNV	Likely pathogenic
1481716	c.517G>A (p.Gly173Ser)	SNV	Likely pathogenic
1486558	c.797G>T (p.Arg266Leu)	SNV	Likely pathogenic
1492561	c.1769C>T (p.Pro590Leu)	SNV	Likely pathogenic
1493391	c.929G>A (p.Ser310Asn)	SNV	Likely pathogenic
2019212	c.731G>T (p.Cys244Phe)	SNV	Likely pathogenic

Variant	Effect	Delta Score
3:189789839:TGAGG:T	donor_loss	1.00
3:189789843:GTAA:G	donor_loss	1.00
3:189864211:A:AG	acceptor_gain	1.00
3:189864211:ACT:A	acceptor_gain	1.00
3:189864211:ACTG:A	acceptor_gain	1.00
3:189864213:T:A	acceptor_gain	1.00
3:189864214:G:A	acceptor_gain	1.00
3:189864227:A:G	acceptor_gain	1.00
3:189789838:GTGAG:G	donor_gain	0.99
3:189789844:T:G	donor_loss	0.99
3:189808270:A:AG	acceptor_gain	0.99
3:189808271:G:GG	acceptor_gain	0.99
3:189808271:GCC:G	acceptor_gain	0.99
3:189864220:A:AG	acceptor_gain	0.99
3:189864221:A:G	acceptor_gain	0.99
3:189834148:T:G	donor_gain	0.99
3:189829119:T:A	acceptor_gain	0.99
3:189864189:T:A	acceptor_gain	0.99
3:189789840:GAG:G	donor_gain	0.98
3:189808268:GCAGC:G	acceptor_loss	0.98
3:189808269:CA:C	acceptor_loss	0.98
3:189808270:A:C	acceptor_loss	0.98
3:189808271:G:GC	acceptor_loss	0.98
3:189808271:GC:G	acceptor_gain	0.98
3:189808271:GCCA:G	acceptor_gain	0.98
3:189810043:T:TA	acceptor_gain	0.98
3:189864228:GCA:G	acceptor_gain	0.98
3:189808271:GCCAC:G	acceptor_gain	0.97
3:189829258:G:GT	donor_gain	0.97
3:189829259:A:T	donor_gain	0.97
3:189864226:A:AG	acceptor_gain	0.99
3:189864228:G:GG	acceptor_gain	0.96
3:189789843:G:GG	donor_gain	0.96
3:189807194:TTTAG:T	donor_gain	0.96
3:189808522:GGACG:G	donor_gain	0.96
3:189808524:ACGGT:A	donor_loss	0.96
3:189808525:CGGTA:C	donor_loss	0.96
3:189808528:T:A	donor_loss	0.96
3:189831430:A:AG	acceptor_loss	0.96
3:189831434:GCAC:G	acceptor_loss	0.96
3:189831435:CACAG:C	acceptor_loss	0.96
3:189831436:ACAG:A	acceptor_loss	0.96
3:189831437:CAGGT:C	acceptor_loss	0.96
3:189831438:A:T	acceptor_loss	0.96
3:189831439:GGTCA:G	acceptor_loss	0.96
3:189833660:T:TA	donor_gain	0.96
3:189833661:A:AA	donor_gain	0.96
3:189808271:G:T	acceptor_gain	0.95
3:189831427:T:G	acceptor_loss	0.95
3:189808523:GACG:G	donor_gain	0.95

CCDS ID
CCDS3293 (canonical)
CCDS46976
CCDS46977
CCDS46978
CCDS46979
CCDS46980
CCDS82887
CCDS87179
CCDS87180
CCDS87181

Variant	Protein Change	Score	Class
3:189738722:T:A	I91N	0.995	likely_pathogenic
3:189738722:T:C	I91T	0.996	likely_pathogenic
3:189738722:T:G	I91S	0.996	likely_pathogenic
3:189738716:T:A	I89N	0.983	likely_pathogenic
3:189738716:T:G	I89S	0.980	likely_pathogenic
3:189738671:T:C	L74S	0.978	likely_pathogenic
3:189738728:T:A	M93K	0.971	likely_pathogenic
3:189738728:T:G	M93R	0.969	likely_pathogenic
3:189738676:T:C	F76L	0.953	likely_pathogenic
3:189738677:T:C	F76S	0.942	likely_pathogenic
3:189737850:T:A	I58N	0.940	likely_pathogenic
3:189738729:G:A	M93I	0.932	likely_pathogenic
3:189738728:T:C	M93T	0.930	likely_pathogenic
3:189738731:A:T	D94V	0.921	likely_pathogenic
3:189808278:T:G	Y111D	0.918	likely_pathogenic
3:189738716:T:C	I89T	0.912	likely_pathogenic
3:189738730:G:T	D94Y	0.908	likely_pathogenic
3:189737862:T:C	L62P	0.906	likely_pathogenic
3:189808286:C:A	N113K	0.898	likely_pathogenic
3:189738677:T:G	F76C	0.885	likely_pathogenic
3:189808278:T:C	Y111H	0.882	likely_pathogenic
3:189737850:T:G	I58S	0.877	likely_pathogenic
3:189738730:G:C	D94H	0.867	likely_pathogenic
3:189738743:T:C	M98T	0.865	likely_pathogenic
3:189738665:T:G	I72S	0.860	likely_pathogenic
3:189808282:C:A	T112K	0.855	likely_pathogenic
3:189738710:A:T	N87I	0.851	likely_pathogenic
3:189737852:T:A	W59R	0.846	likely_pathogenic
3:189738737:T:A	I96N	0.846	likely_pathogenic
3:189738737:T:G	I96S	0.844	likely_pathogenic
3:189808279:A:C	Y111S	0.840	likely_pathogenic
3:189738737:T:C	I96T	0.832	likely_pathogenic
3:189737862:T:G	L62R	0.826	likely_pathogenic
3:189738724:A:C	S92R	0.819	likely_pathogenic
3:189737850:T:C	I58T	0.813	likely_pathogenic
3:189738743:T:A	M98K	0.812	likely_pathogenic
3:189738743:T:G	M98R	0.813	likely_pathogenic
3:189738662:C:T	P71L	0.812	likely_pathogenic
3:189738731:A:C	D94A	0.806	likely_pathogenic
3:189737841:T:C	F55S	0.806	likely_pathogenic

Pathway ID	Pathway Name
R-HSA-139915	Activation of PUMA and translocation to mitochondria
R-HSA-5620971	Pyroptosis
R-HSA-5628897	TP53 Regulates Metabolic Genes
R-HSA-6803204	TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
R-HSA-6803205	TP53 regulates transcription of additional cell death genes
R-HSA-6803207	TP53 Regulates Transcription of Caspase Activators and Caspases
R-HSA-6803211	TP53 Regulates Transcription of Death Receptors and Ligands
R-HSA-6804759	Regulation of TP53 Activity through Association with Co-factors
R-HSA-9725554	Differentiation of Keratinocytes in Interfollicular Epidermis
R-HSA-9927432	Developmental Lineage of Mammary Gland Myoepithelial Cells
R-HSA-9938206	Developmental Lineage of Mammary Stem Cells

GO ID	Term
GO:0000122	negative regulation of transcription by RNA polymerase II
GO:0001501	skeletal system development
GO:0001736	establishment of planar polarity
GO:0002064	epithelial cell development
GO:0006338	chromatin remodeling
GO:0006366	transcription by RNA polymerase II
GO:0006915	apoptotic process
GO:0006974	DNA damage response
GO:0007219	Notch signaling pathway
GO:0007283	spermatogenesis
GO:0007499	ectoderm and mesoderm interaction
GO:0008340	determination of adult lifespan
GO:0009954	proximal/distal pattern formation
GO:0010481	epidermal cell division
GO:0010482	regulation of epidermal cell division
GO:0010838	positive regulation of keratinocyte proliferation
GO:0030216	keratinocyte differentiation
GO:0030859	polarized epithelial cell differentiation
GO:0031069	hair follicle morphogenesis
GO:0033147	negative regulation of intracellular estrogen receptor signaling

GO ID	Term
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0002039	p53 binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003684	damaged DNA binding
GO:0003700	DNA-binding transcription factor activity
GO:0042802	identical protein binding
GO:0046872	metal ion binding
GO:0050699	WW domain binding
GO:0097371	MDM2/MDM4 family protein binding
GO:1990841	promoter-specific chromatin binding

GO ID	Term
GO:0000785	chromatin
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0030425	dendrite
GO:0032991	protein-containing complex

UniProt	Gene	Score
P48431	TP73	918
O15350	TP73	779
O00744	IL9	760
P56179	KRT86	723
Q96FX8	DGCR14	716
P02533	KRT14	704
P42336	PIK3CA	674
P01106	MYC	673
P13647	KRT5	653
P56178	KRT79	649
Q86XZ4	KRT78	649
P42771	CDKN2A	648
Q9NRW4	IRF4	616
Q00987	MDM2	599
O14686	KMT2D	594
P46937	YAP1	587
Q9H0Z9	HACE1	579
P11684	SCGB1A1	578
Q96D03	DDIT4L	547
P55317	HNF3A	532
O14896	IRF6	525
O60479	DYRK1A	522
Q04206	RELA	516
P43699	NKX2-1	514
P05412	JUN	513
Q9HC84	MUC5B	507
P00533	EGFR	497
P78504	JAG1	493
P46531	NOTCH1	490
P78337	PITX1	490
Q9Y6A5	TACC3	489
O96017	CHEK2	485
P17676	CEBPB	482
Q32MQ0	CDC27	480
Q96KA5	CLPX	476
P18075	BMP7	469
Q9UM73	ALK	461
Q14209	E2F2	455
Q9H161	RAPGEF6	454
P04626	ERBB2	453
Q9H2X6	HIPK2	450
A6NLE4	TUBB4B	447
Q92949	FOXJ1	446
P29034	S100A2	445
P78360	GRHL2	445
P56279	KRT85	444
P60484	PTEN	444
Q14517	FAT1	444
Q01954	BRPF1	443

Partner Gene	Type	Score
TP63 (self)	direct interaction	0.77
TP73	direct interaction	0.77
TP53	physical association	0.59
YAP1	direct interaction	0.61
SMAD2	physical association	0.59/0.67
HNRNPAB	physical association	0.57
PPP1R13B	direct interaction	0.54
NIPSNAP3A	physical association	0.51
SATB2	physical association/colocalization	0.46
NEDD4	direct interaction	0.44
PPP1R13L	direct interaction	0.44
TP53BP2	direct interaction	0.44
HIPK2	phosphorylation reaction	0.44

UniProt	Top Similarity	Avg Similarity
O88898 (Mouse Trp63)	1.0000	0.9883
Q9JJP6 (Mouse Tp63)	1.0000	0.9883
Q9NZN8 (TP73)	1.0000	0.9854
Q86U70 (CDH26)	1.0000	0.9822
P70662	1.0000	0.9823
Q8C5L3	1.0000	0.9854
O15350 (TP73)	0.9999	0.9879
Q9ES03	0.9999	0.9904
Q9XSK8	0.9999	0.9878
Q9UMR3	0.9999	0.9901
O42252	0.9998	0.9816
Q8AXW8	0.9998	0.9905
Q3SA46	0.9998	0.9906
Q9W679	0.9978	0.9918
P26323	0.9997	0.9853
Q01543	0.9997	0.9849
Q29RS8	0.9997	0.9848
Q9JJP2	0.9996	0.9878
Q8UW76	0.9996	0.9906
Q90837	0.9995	0.9873

UniProt	Identity	BitScore
P56423	100%	773
P56424	100%	773
P61260	100%	773
P67938	100%	748
P67939	100%	748
O88898 (Mouse Trp63)	99.6%	1330
Q9JJP6 (Mouse Tp63)	99.6%	1333
O57538	99.4%	641
Q92143	99.4%	641
P13481	99.0%	769
O36006	97.8%	654
Q64662	97.8%	604
O15350 (TP73)	97.5%	1242
Q9XSK8 (TP73)	97.5%	1243
P04637 (TP53)	95.4%	736
P79892	94.6%	444
Q29480	94.6%	353
Q9TTA1	93.1%	709
O09185	91.2%	707
Q00366	91.2%	715

Motif ID	Name	Collection	Class	Family
MA0525.1	TP63	CORE	p53 domain factors	p53-related factors
MA0525.2	TP63	CORE	p53 domain factors	p53-related factors

Target Gene	Regulation	Confidence
CDKN1A	Activation	High
CDKN2A	Repression	High
BAX	Activation	High
BBC3 (PUMA)	Unknown	High
FAS	Activation	High
EGFR	Repression	High
EPHA2	Repression	High
FASN	Repression	High
CDC25A	Repression	High
CDK1	Activation	High
CKS1B	Activation	High
CKS2	Activation	High
DLX6	Activation	High
APOD	Activation	High
AQP3	Activation	Low
CCDC3	Activation	-
ABCB1	-	High
ADA	-	High
AHR	-	High
ALOX12	-	High
AR	-	High
ATM	-	High
AXL	-	High
B4GALT1	-	High
BRCA1	Unknown	-
CASP1	-	High
CCND3	-	High
CD44	-	High
CDC25C	-	High
CDH1	-	High
CHUK	-	High
CLDN1	-	High
CLDN20	-	High
CRABP1	-	High
CSF1	-	High
CSF2	-	High
CTNNB1	-	High
DDR1	-	High
DHRS3	-	High
DLX5	-	High
ERBB2	-	High
FDXR	Unknown	High
FGFR3	-	High
CDKN1C	Unknown	High
BMAL1	-	High
CHN1	-	High
AACS	-	High
AHCYL1	-	High
CCDC28A	-	High
FBXO32	-	High

Property	Value
PharmGKB ID	PA162406776
VIP Gene	Yes (Very Important Pharmacogene)
Symbol	TP63

Property	Value
Expression breadth	Ubiquitous
Total present calls	207
Total absent calls	76
Total conditions	283
Max expression score	98.64
Average expression score	63.76
Gold quality count	255

Tissue (UBERON)	Expression Score	Quality
upper leg skin (UBERON:0004262)	98.64	gold
skin of hip (UBERON:0001554)	98.26	gold
upper arm skin (UBERON:0004263)	98.06	gold
penis (UBERON:0000989)	98.00	gold
hair follicle (UBERON:0002073)	97.57	gold
mammalian vulva (UBERON:0000997)	97.53	gold
gingiva (UBERON:0001828)	97.36	gold
nipple (UBERON:0002030)	97.32	gold
tongue squamous epithelium (UBERON:0006919)	97.08	gold
skin of abdomen (UBERON:0001416)	97.00	gold
gingival epithelium (UBERON:0001949)	96.98	gold
zone of skin (UBERON:0000014)	96.53	gold
pharyngeal mucosa (UBERON:0000355)	96.17	gold
skin of leg (UBERON:0001511)	95.93	gold
oral cavity (UBERON:0000167)	95.66	gold
cervix epithelium (UBERON:0004801)	95.43	gold
esophagus mucosa (UBERON:0002469)	94.71	gold
squamous epithelium (UBERON:0006914)	94.57	gold
esophagus squamous epithelium (UBERON:0006920)	93.81	gold
body of tongue (UBERON:0011876)	93.78	gold
rectus abdominis muscle (UBERON:0004511)	93.65	gold
epithelium of esophagus (UBERON:0001976)	92.89	gold
cervix squamous epithelium (UBERON:0006922)	91.75	gold
deltoid muscle (UBERON:0001476)	91.51	gold
epithelium of nasopharynx (UBERON:0001951)	91.45	gold
tibialis anterior (UBERON:0001385)	91.21	gold
gluteal muscle (UBERON:0002000)	91.21	gold
lower esophagus mucosa (UBERON:0035834)	91.15	gold
olfactory nasal mucosa (UBERON:0005386)	91.14	gold
tongue (UBERON:0001723)	90.87	gold

Experiment ID	Description	Cells
E-ANND-2	GTEx snRNAseq atlas	209,126
E-CURD-114	Human airway epithelium (smoking effects)	81,801
E-CURD-7	Adult human breast epithelial cells	867
E-ENAD-21	Human breast epithelial cells	867
E-GEOD-86618	Lung epithelial cells (control vs IPF)	540
E-MTAB-10596	Human dental follicle organoids	3,388

Disease	Disease ID	Evidence	Inheritance
EEC syndrome 3	OMIM:604292	Definitive	AD
Ankyloblepharon-ectodermal defects-cleft lip/palate	OMIM:106260	Definitive	AD
Rapp-Hodgkin syndrome	OMIM:129400	Definitive	AD
ADULT syndrome	OMIM:103285	Definitive	AD
Limb-mammary syndrome	OMIM:603543	Definitive	AD
Split hand-foot malformation 4	MONDO:0011535	Moderate	AD
Premature ovarian failure 21	OMIM:620311	Strong	AD
TP63-related ectodermal dysplasia spectrum	MONDO:1040001	Strong	AD

Orphanet ID	Disease Name	Type	Phenotype Count
1896	EEC syndrome	Malformation syndrome	61
69085	Limb-mammary syndrome	Malformation syndrome	32
978	ADULT syndrome	Malformation syndrome	24
2440	Split hand-split foot malformation	Malformation syndrome	8
199306	Cleft lip/palate	Morphological anomaly	21
199302	Isolated cleft lip	Morphological anomaly	19
93930	Classic bladder exstrophy	Clinical subtype	13
141291	Cleft lip and alveolus	Morphological anomaly	12
1072	Ankyloblepharon filiforme adnatum-cleft palate	Clinical subtype	5

HPO ID	Phenotype
HP:0000006	Autosomal dominant inheritance
HP:0000968	Ectodermal dysplasia
HP:0000175	Cleft palate
HP:0000204	Cleft upper lip
HP:0000202	Orofacial cleft
HP:0000668	Hypodontia
HP:0000677	Oligodontia
HP:0000682	Abnormal dental enamel
HP:0000958	Dry skin
HP:0000962	Hyperkeratosis
HP:0000966	Hypohidrosis
HP:0000970	Anhidrosis
HP:0000982	Palmoplantar keratoderma
HP:0000522	Alacrima
HP:0000564	Lacrimal duct atresia
HP:0000579	Nasolacrimal duct obstruction
HP:0000653	Sparse eyelashes
HP:0000561	Absent eyelashes
HP:0000365	Hearing impairment
HP:0000405	Conductive hearing impairment
HP:0000403	Recurrent otitis media
HP:0000104	Renal agenesis
HP:0000110	Renal dysplasia
HP:0000126	Hydronephrosis
HP:0000047	Hypospadias
HP:0000028	Cryptorchidism
HP:0000054	Micropenis
HP:0000151	Aplasia of the uterus
HP:0000786	Primary amenorrhea
HP:0000778	Hypoplasia of the thymus
HP:0000272	Malar flattening
HP:0000327	Hypoplasia of the maxilla
HP:0000431	Wide nasal bridge
HP:0000453	Choanal atresia
HP:0000491	Keratitis
HP:0000498	Blepharitis
HP:0000509	Conjunctivitis
HP:0000613	Photophobia
HP:0000621	Entropion
HP:0000708	Atypical behavior
HP:0000750	Delayed speech and language development
HP:0001511	Intrauterine growth retardation
HP:0001999	Abnormal facial shape
HP:0002007	Frontal bossing
HP:0002164	Nail dysplasia
HP:0008404	Nail dystrophy
HP:0008388	Abnormal toenail morphology
HP:0001817	Absent fingernail
HP:0001798	Anonychia
HP:0001792	Small nail

Study ID	Trait/Disease	P-value
GCST001140	Lung cancer	7×10⁻²⁶
GCST008834	Non-small cell lung cancer	1×10⁻²⁰
GCST001609	Lung adenocarcinoma	7×10⁻¹⁷
GCST010148	Cutaneous squamous cell carcinoma	6×10⁻¹⁵
GCST003605	EGFR mutation-positive lung adenocarcinoma	9×10⁻¹³
GCST000810	Lung adenocarcinoma	7×10⁻¹²
GCST004744	Lung adenocarcinoma	7×10⁻¹²
GCST003327	Squamous cell carcinoma	1×10⁻¹¹
GCST002240	Bladder cancer	2×10⁻¹¹
GCST000842	Bladder cancer	2×10⁻¹⁰
GCST011456	Serum CC16 levels	5×10⁻¹⁰
GCST002466	Lung cancer	7×10⁻¹⁰
GCST001740	Lung cancer	4×10⁻⁹
GCST001320	Acute lymphoblastic leukemia (childhood)	3×10⁻⁸
GCST002874	Psoriasis	4×10⁻⁸
GCST005434	Pancreatic cancer	5×10⁻⁸
GCST002991	Pancreatic cancer	2×10⁻⁸
GCST005752	Systemic lupus erythematosus	2×10⁻⁶
GCST009391	Metabolite levels	9×10⁻⁶
GCST003268	Psoriasis vulgaris	3×10⁻⁶

Category	Count
Gene identifiers	4 primary databases
Ensembl transcripts	14 (12 protein-coding)
RefSeq transcripts	13 reviewed human
CCDS entries	10
UniProt entries	5 (1 reviewed)
Exons (canonical)	14
PDB structures	25
InterPro domains	10
Orthologs	4 model organisms
ClinVar variants	827 total
Pathogenic variants	66
Likely pathogenic	50
SpliceAI predictions	2,303
AlphaMissense predictions	4,516
Reactome pathways	11
GO annotations	72
STRING interactions	2,404
IntAct interactions	88
TF target genes	246+
JASPAR motifs	2
Disease associations	16 (GenCC)
HPO phenotypes	254
GWAS associations	31
Expression conditions	283 (207 present)
Single-cell datasets	6