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

Section 1: Gene Identifiers
DatabaseIdentifierDescription HGNC IDHGNC:959Approved symbol: BAX HGNC NameBCL2 associated X, apoptosis regulator Ensembl GeneENSG00000087088protein_coding NCBI Entrez Gene581protein-coding OMIM600040Gene/Locus StatusApprovedLocus type: gene with protein product Locus Groupprotein-coding gene Gene FamilyBCL2 family AliasesBCL2L4 Previous NamesBCL2-associated X protein; BCL2 associated X protein Genomic Location AttributeValue Chromosome19 Cytogenetic Band19q13.33 …

Attribute	Value
Chromosome	19
Cytogenetic Band	19q13.33
Start Position	48,954,815
End Position	48,961,798
Strand	+ (positive)
Genome Assembly	GRCh38 (homo_sapiens)
Gene Span	6,984 bp

Transcript ID	Biotype	Start	End	Strand	UTR Info
ENST00000293288	protein_coding	48954929	48961798	+	3'UTR: 48961098-48961798
ENST00000345358	protein_coding	48954875	48961798	+	5'UTR: 48954875-48954928; 3'UTR: 48961637-48961798
ENST00000354470	protein_coding	48954929	48961637	+	3'UTR: 48961637
ENST00000356483	nonsense_mediated_decay	48954929	48961636	+	3'UTR: 48961532-48961636
ENST00000415969	protein_coding	48954929	48961636	+	-
ENST00000502487	retained_intron	48954815	48961704	+	-
ENST00000503726	retained_intron	48955508	48960835	+	-
ENST00000506183	protein_coding	48954929	48961639	+	3'UTR: 48961637-48961639
ENST00000513217	retained_intron	48955853	48961197	+	-
ENST00000513545	retained_intron	48954897	48961713	+	-
ENST00000515540	nonsense_mediated_decay	48954929	48956316	+	3'UTR: 48956198-48956316
ENST00000539787	protein_coding	48954929	48961097	+	5'UTR: 48956198
ENST00000880100	protein_coding	48954871	48961798	+	5'UTR: 48954871-48954928; 3'UTR: 48961637-48961798

RefSeq ID	Type	Status	MANE Select
NM_138761	mRNA	REVIEWED	✓ YES (Canonical)
NM_004324	mRNA	REVIEWED	No
NM_138763	mRNA	REVIEWED	No
NM_138764	mRNA	REVIEWED	No
NM_001291428	mRNA	REVIEWED	No
NM_001291429	mRNA	REVIEWED	No
NM_001291430	mRNA	REVIEWED	No
NM_001291431	mRNA	REVIEWED	No
NR_027882	ncRNA	REVIEWED	No

RefSeq Protein	Status	MANE Select
NP_620116	REVIEWED	✓ YES
NP_004315	REVIEWED	No
NP_620118	REVIEWED	No
NP_620119	REVIEWED	No
NP_001278357	REVIEWED	No
NP_001278358	REVIEWED	No
NP_001278359	REVIEWED	No
NP_001278360	REVIEWED	No

Exon ID	Start	End	Strand	Length
ENSE00003477122	48954929	48954962	+	34 bp
ENSE00000853382	48955548	48955599	+	52 bp
ENSE00003478529	48955687	48955833	+	147 bp
ENSE00003731885	48956198	48956333	+	136 bp
ENSE00002027056	48960810	48961798	+	989 bp

BAX Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Description
HGNC ID	HGNC:959	Approved symbol: BAX
HGNC Name	BCL2 associated X, apoptosis regulator
Ensembl Gene	ENSG00000087088	protein_coding
NCBI Entrez Gene	581	protein-coding
OMIM	600040	Gene/Locus
Status	Approved	Locus type: gene with protein product
Locus Group	protein-coding gene
Gene Family	BCL2 family
Aliases	BCL2L4
Previous Names	BCL2-associated X protein; BCL2 associated X protein

InterPro ID	Name	Type
IPR002475	Bcl2-like	Family
IPR026298	Bcl-2_fam	Family
IPR036834	Bcl-2-like_sf	Homologous_superfamily
IPR046371	Bcl-2_BH1-3	Domain
IPR020717	Bcl2_BH1_motif_CS	Conserved_site
IPR020726	Bcl2_BH2_motif_CS	Conserved_site
IPR020728	Bcl2_BH3_motif_CS	Conserved_site

PDB ID	Method	Resolution	Title
1F16	SOLUTION NMR	-	Solution structure of a pro-apoptotic protein BAX
2G5B	X-RAY DIFFRACTION	2.3 Å	Crystal Structure of anti-Bax monoclonal antibody 6A7 and Bax peptide
2K7W	SOLUTION NMR	-	BAX Activation is Initiated at a Novel Interaction Site
2LR1	SOLUTION NMR	-	Structural Mechanism for Bax Inhibition by Cytomegalovirus protein vMIA
3PK1	X-RAY DIFFRACTION	2.49 Å	Crystal structure of Mcl-1 in complex with the BaxBH3 domain
3PL7	X-RAY DIFFRACTION	2.61 Å	Crystal structure of Bcl-xL in complex with the BaxBH3 domain
4BD2	X-RAY DIFFRACTION	2.21 Å	Bax domain swapped dimer in complex with BidBH3
4BD6	X-RAY DIFFRACTION	2.49 Å	Bax domain swapped dimer in complex with BaxBH3
4BD7	X-RAY DIFFRACTION	2.80 Å	Bax domain swapped dimer induced by octylmaltoside
4BD8	X-RAY DIFFRACTION	2.22 Å	Bax domain swapped dimer induced by BimBH3 with CHAPS
4BDU	X-RAY DIFFRACTION	3.00 Å	Bax BH3-in-Groove dimer (GFP)
4S0O	X-RAY DIFFRACTION	1.90 Å	Crystal Structure of Autoinhibited Dimer of Pro-apoptotic BAX (I)
4S0P	X-RAY DIFFRACTION	3.25 Å	Crystal Structure of Autoinhibited Dimer of Pro-apoptotic BAX (II)
4UF2	X-RAY DIFFRACTION	3.00 Å	Deerpox virus DPV022 in complex with Bax BH3
4ZIE	X-RAY DIFFRACTION	1.80 Å	Core/latch dimer of Bax in complex with BimBH3
4ZIF	X-RAY DIFFRACTION	2.40 Å	Core/latch dimer of Bax in complex with BimBH3mini
4ZIG	X-RAY DIFFRACTION	2.20 Å	Core/latch dimer of Bax in complex with BidBH3mini
4ZIH	X-RAY DIFFRACTION	2.50 Å	Core/latch dimer of Bax in complex with BimBH3mini
4ZII	X-RAY DIFFRACTION	2.19 Å	Core/latch dimer of BaxI66A in complex with BidBH3
5W5X	X-RAY DIFFRACTION	2.50 Å	BAXP168G in complex with activating antibody
5W5Z	X-RAY DIFFRACTION	2.00 Å	BAXP168G in complex with activating antibody (high res)
5W60	X-RAY DIFFRACTION	1.80 Å	BAXP168G monomer cryo-protected with ethylene glycol
5W61	X-RAY DIFFRACTION	2.30 Å	BAXP168G monomer co-crystallized with glycerol
6EB6	X-RAY DIFFRACTION	2.02 Å	BAX W139A monomer
6L8V	SOLUTION NMR	-	Membrane-bound Bax helix2-helix5 domain
6L95	SOLUTION NMR	-	Transmembrane-domain of Bax
6TRR	X-RAY DIFFRACTION	2.12 Å	Tanapoxvirus mediated inhibition of apoptosis
6XY6	X-RAY DIFFRACTION	2.91 Å	Sheep-pox virus mediated inhibition of apoptosis
7ADT	X-RAY DIFFRACTION	2.21 Å	Orf virus Apoptosis inhibitor ORFV125
8G1T	X-RAY DIFFRACTION	2.09 Å	Bax core domain BH3-groove dimer - tetrameric P21
8SPE	X-RAY DIFFRACTION	2.30 Å	Bax core domain BH3-groove dimer - tetrameric P31
8SPF	X-RAY DIFFRACTION	2.20 Å	Bax core domain BH3-groove dimer - hexameric with lysoPC
8SPZ	X-RAY DIFFRACTION	2.40 Å	Bax core domain BH3-groove dimer - hexameric with phosphatidylserine
8SRX	X-RAY DIFFRACTION	2.09 Å	BAK-BAX heterodimer with lysoPC
8SRY	X-RAY DIFFRACTION	2.40 Å	BAK-BAX heterodimer with C12E8
8SVK	X-RAY DIFFRACTION	2.25 Å	Bax D71N core domain BH3-groove dimer
9IXU	ELECTRON MICROSCOPY	3.19 Å	Overall reconstruction of the Bax line

Organism	Ensembl Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000003873	Bax	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000020876	Bax	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000020623	baxa	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000030881	baxb	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000089129	-	protein_coding
Worm (C. elegans)	WBGENE00000423	-	-

Classification	Count
Pathogenic	3
Likely Pathogenic	1
Uncertain Significance (VUS)	39
Likely Benign	5
Benign	1
No Classification	4

ClinVar ID	HGVS Notation	Type	Classification
9512	NM_138761.4(BAX):c.121del (p.Glu41fs)	Deletion	Pathogenic
9513	NM_138761.4(BAX):c.199G>A (p.Gly67Arg)	SNV	Pathogenic
9514	NM_138761.4(BAX):c.115_121del (p.Gly39fs)	Deletion	Pathogenic
4278421	NM_138761.4(BAX):c.474+50_474+63del	Deletion	Likely pathogenic

ClinVar ID	HGVS Notation	Type
9511	c.121dup (p.Glu41fs)	Duplication
2260655	c.10T>C (p.Ser4Pro)	SNV
2301364	c.114G>T (p.Met38Ile)	SNV
2350019	c.43A>G (p.Ser15Gly)	SNV
2351869	c.7G>T (p.Gly3Trp)	SNV
2543287	c.196A>G (p.Ile66Val)	SNV
2543620	c.167C>A (p.Thr56Asn)	SNV
3133020	c.241G>C (p.Ala81Pro)	SNV
3133021	c.297G>C (p.Met99Ile)	SNV
3260471	c.278T>C (p.Phe93Ser)	SNV

Variant ID	Effect	Score
19:48955118:G:GT	donor_gain	1.00
19:48955199:G:GT	donor_gain	0.99
19:48954932:G:GT	donor_gain	0.99
19:48954943:G:GT	donor_gain	0.99
19:48954943:G:T	donor_gain	0.99
19:48954959:GGGG:G	donor_gain	0.98
19:48954960:G:GT	donor_gain	0.98
19:48954960:GGG:G	donor_gain	0.97
19:48954917:G:GT	donor_gain	0.95
19:48955216:C:T	donor_gain	0.95
19:48954972:G:GT	donor_gain	0.95
19:48954961:GG:G	donor_gain	0.95
19:48963963:GTGAG:G	donor_loss	0.95
19:48954958:C:T	donor_gain	0.94
19:48954965:GAG:G	donor_loss	0.93
19:48955118:G:T	donor_gain	0.92
19:48954972:G:T	donor_gain	0.91
19:48955191:G:T	donor_gain	0.91
19:48955256:C:T	donor_gain	0.90

Variant	Protein Change	Pathogenicity Score	Classification
19:48955788:T:C	L63P	1.000	likely_pathogenic
19:48955580:G:T	G23W	0.999	likely_pathogenic
19:48955581:G:A	G23E	0.999	likely_pathogenic
19:48955689:T:C	F30S	0.999	likely_pathogenic
19:48955688:T:C	F30L	0.999	likely_pathogenic
19:48955590:T:C	L26S	0.999	likely_pathogenic
19:48955580:G:A	G23R	0.998	likely_pathogenic
19:48955580:G:C	G23R	0.998	likely_pathogenic
19:48955692:T:A	I31N	0.997	likely_pathogenic
19:48955590:T:G	L26W	0.996	likely_pathogenic
19:48955689:T:G	F30C	0.996	likely_pathogenic
19:48955788:T:G	L63R	0.995	likely_pathogenic
19:48955776:T:C	L59P	0.995	likely_pathogenic
19:48955569:T:G	I19S	0.994	likely_pathogenic
19:48955692:T:C	I31T	0.992	likely_pathogenic
19:48955692:T:G	I31S	0.991	likely_pathogenic
19:48955581:G:T	G23V	0.991	likely_pathogenic
19:48955569:T:A	I19N	0.990	likely_pathogenic
19:48955794:G:C	R65P	0.990	likely_pathogenic
19:48955688:T:A	F30I	0.988	likely_pathogenic
19:48955701:G:C	R34P	0.988	likely_pathogenic
19:48955688:T:G	F30V	0.985	likely_pathogenic
19:48955593:T:G	L27R	0.982	likely_pathogenic
19:48955786:T:G	C62W	0.982	likely_pathogenic
19:48955776:T:A	L59Q	0.980	likely_pathogenic
19:48955583:G:C	A24P	0.980	likely_pathogenic
19:48955591:G:C	L26F	0.979	likely_pathogenic
19:48955591:G:T	L26F	0.979	likely_pathogenic
19:48955784:T:C	C62R	0.971	likely_pathogenic
19:48955776:T:G	L59R	0.966	likely_pathogenic
19:48955568:A:T	I19F	0.963	likely_pathogenic
19:48955787:C:T	L63F	0.959	likely_pathogenic
19:48955577:A:C	T22P	0.946	likely_pathogenic
19:48955785:G:A	C62Y	0.941	likely_pathogenic
19:48955701:G:T	R34L	0.932	likely_pathogenic
19:48955700:C:G	R34G	0.928	likely_pathogenic
19:48955587:T:C	L25P	0.923	likely_pathogenic
19:48955596:A:C	Q28P	0.921	likely_pathogenic
19:48955573:G:A	M20I	0.915	likely_pathogenic
19:48955572:T:C	M20T	0.915	likely_pathogenic
19:48955572:T:A	M20K	0.911	likely_pathogenic
19:48955796:A:C	I66L	0.910	likely_pathogenic
19:48955785:G:T	C62F	0.899	likely_pathogenic
19:48955592:C:T	L27F	0.899	likely_pathogenic
19:48955792:G:C	K64N	0.898	likely_pathogenic
19:48955695:A:C	Q32P	0.890	likely_pathogenic
19:48955787:C:G	L27V	0.890	likely_pathogenic
19:48955589:T:A	L26M	0.887	likely_pathogenic
19:48955572:T:G	M20R	0.884	likely_pathogenic
19:48955691:A:T	I31F	0.870	likely_pathogenic

Pathway ID	Pathway Name
R-HSA-111457	Release of apoptotic factors from the mitochondria
R-HSA-114294	Activation, translocation and oligomerization of BAX
R-HSA-5620971	Pyroptosis
R-HSA-6803204	TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
R-HSA-6804114	TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
R-HSA-8878166	Transcriptional regulation by RUNX2
R-HSA-9603505	NTRK3 as a dependence receptor

CCDS ID
CCDS12742
CCDS12743
CCDS12744
CCDS12745
CCDS77327

GO ID	Term Name
GO:0006915	apoptotic process
GO:0097190	apoptotic signaling pathway
GO:0097193	intrinsic apoptotic signaling pathway
GO:0097191	extrinsic apoptotic signaling pathway
GO:0097194	execution phase of apoptosis
GO:0043065	positive regulation of apoptotic process
GO:0001836	release of cytochrome c from mitochondria
GO:0090200	positive regulation of release of cytochrome c from mitochondria
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0070059	intrinsic apoptotic signaling pathway in response to ER stress
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator
GO:0043653	mitochondrial fragmentation involved in apoptotic process
GO:0008637	apoptotic mitochondrial changes
GO:0051881	regulation of mitochondrial membrane potential
GO:0010917	negative regulation of mitochondrial membrane potential
GO:0051204	protein insertion into mitochondrial membrane
GO:0001783	B cell apoptotic process
GO:0070242	thymocyte apoptotic process
GO:0043525	positive regulation of neuron apoptotic process
GO:0060057	apoptotic process involved in mammary gland involution

GO ID	Term Name
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity
GO:0051434	BH3 domain binding
GO:0008289	lipid binding
GO:0015267	channel activity
GO:0030544	Hsp70 protein binding

GO ID	Term Name
GO:0005739	mitochondrion
GO:0005741	mitochondrial outer membrane
GO:0005757	mitochondrial permeability transition pore complex
GO:0097136	Bcl-2 family protein complex
GO:0097144	BAX complex
GO:0097145	BAK complex
GO:0005634	nucleus
GO:0005635	nuclear envelope
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0046930	pore complex
GO:0070062	extracellular exosome

Interactor Gene	Interaction Type	Confidence Score
BAX (self)	direct interaction	0.97
BCL2L1 (BCL-xL)	direct interaction	0.97
BCL2L1	physical association	0.97
BCL2	physical association	0.95
BCL2	colocalization	0.95
BCL2L11 (BIM)	physical association	0.94
BCL2L11	direct interaction	0.94
MCL1	physical association	0.91
MCL1	direct interaction	0.91
BCL2L2 (BCL-W)	physical association	0.82
BID	physical association	0.82
SNCA (α-synuclein)	physical association	0.66
MT-RNR2 (Humanin)	physical association	0.59
BCL2L10	physical association	0.56
BCL2L12	physical association	0.55
AKT1	phosphorylation reaction	0.44
GSK3B	phosphorylation reaction	0.44
Gimap3	direct interaction	0.44
Gimap4	direct interaction	0.44
Gimap5	direct interaction	0.44
Mfn1	association	0.42
Mfn2	association	0.42
PRKCE	physical association	0.40
KCNA3	physical association	0.40
RTL10	physical association	0.40
TOM40	physical association	0.40

Regulator	Effect	Mechanism	Direct
TP53	up-regulates	transcriptional regulation	Yes
TP53	up-regulates activity	binding	Yes
BID	up-regulates	binding	Yes
BCL2L11 (BIM)	up-regulates activity	binding	Yes
BBC3 (PUMA)	up-regulates	binding/relocalization	Yes
MAPK8 (JNK1)	up-regulates	indirect	No
MAPK9 (JNK2)	up-regulates	indirect	No
MAPK10 (JNK3)	up-regulates	indirect	No
GSK3B	up-regulates	phosphorylation	Yes
PYCARD	up-regulates	relocalization	Yes
USP24	up-regulates quantity	deubiquitination	Yes

Regulator	Effect	Mechanism	Direct
BCL2	down-regulates activity	binding	Yes
BCL2L1 (BCL-xL)	down-regulates	binding	Yes
BCL2L2 (BCL-W)	down-regulates	binding	Yes
MCL1	down-regulates	binding	Yes
AKT1	down-regulates activity	phosphorylation	Yes
PRKCZ	down-regulates activity	phosphorylation	Yes
PPM1D	down-regulates activity	dephosphorylation	Yes
PARK2 (Parkin)	down-regulates quantity	ubiquitination	Yes

Target	Effect	Mechanism
CYCS (Cytochrome c)	up-regulates	relocalization
DIABLO (SMAC)	up-regulates	relocalization
HTRA2 (Omi)	up-regulates	relocalization
VDAC1	up-regulates activity	binding
Apoptosis	up-regulates	indirect

UniProt ID	Top Similarity	Avg Similarity
P53563 (BAX - C. elegans)	1.000	0.980
Q1RMX3	1.000	0.975
Q45T69	1.000	0.975
Q64373 (BAX - Mouse)	1.000	0.980
O02703	0.9999	0.981
Q07813	0.9999	0.981
P70345	0.9999	0.976
Q63690 (BAX - Rat)	0.9999	0.981
Q07816 (BCL2L1)	0.9973	0.980
P55957 (BID)	0.9960	0.970

UniProt ID	Top Identity	BitScore
P53563	99.6%	465
Q64373	99.6%	466
Q07817	97.9%	460
O77737	97.9%	459
Q9JJV8	97.9%	478
Q6R755	97.9%	478
O02703	97.4%	378
Q07813	99.0%	382
Q63690	99.0%	382
P10417	96.6%	473

TF Gene	Confidence	Notes
TP53	High	Major activator
TP63	High	p63 family
TP73	High	p73 family
E2F1	-	Cell cycle regulator
E2F2	-	Cell cycle regulator
FOXO1	High	Forkhead family
HIF1A	High	Hypoxia response
NKX3-1	High	Homeobox
SOX4	High	SRY-box
POU4F2	High	POU domain
ABL1	-	Tyrosine kinase
ATM	-	DNA damage response
FOXA2	-	Forkhead
ING1	-	Tumor suppressor
ING4	-	Tumor suppressor
MEOX2	-	Mesenchyme
MYCN	-	MYC family
MYCT1	-
NR3C1	-	Glucocorticoid receptor
NR4A3	-	Nuclear receptor
PAX5	-	Paired box
PML	-	Promyelocytic leukemia
WWTR1	-	TAZ
YAP1	-	Hippo pathway
ZNF331	-	Zinc finger

TF Gene	Confidence	Notes
NFKB1	High	NF-κB pathway
NFKB/RELA	High	NF-κB pathway
GFI1	High	Growth factor independent
ETS1	High	ETS family
NR4A2	High	Nuclear receptor
POU4F1	High	POU domain
AATF	-	Anti-apoptotic
ELL	-	Elongation factor
MLLT10	-
MLLT3	-
PAX3	-	Paired box
PER1	-	Circadian
PPP1R13L	-	IASPP
SMAD2	-	TGF-β pathway
SMAD3	-	TGF-β pathway
SP3	-	Sp family
TAF1	-	TFIID subunit

TF Gene	Confidence
SP1	High
STAT1	High
RUNX2	High
USF1	High
CTCF	High
EGR1	High
MYC	Low
STAT3	-

ChEMBL Target ID	Title	Type
CHEMBL5318	Apoptosis regulator BAX	SINGLE PROTEIN
CHEMBL3883286	Bcl-xL/BAX	PROTEIN-PROTEIN INTERACTION
CHEMBL3885513	Apoptosis regulator BAX/Bcl-2	PROTEIN-PROTEIN INTERACTION
CHEMBL3885514	Apoptosis regulator BAX/Bcl-2-related protein A1	PROTEIN-PROTEIN INTERACTION
CHEMBL3885515	Apoptosis regulator BAX/Induced myeloid leukemia cell differentiation protein Mcl-1	PROTEIN-PROTEIN INTERACTION

ChEMBL Molecule ID	Name	Type	Development Phase
CHEMBL224318	4-phenoxyphenol	Small molecule	0 (Preclinical)
CHEMBL343732	-	Small molecule	0
CHEMBL3417395-CHEMBL3417410	-	Small molecules	0
CHEMBL4438921	-	Unknown	0
CHEMBL4578793	-	Unknown	0
Various others	-	Various	0

Attribute	Value
PharmGKB ID	PA25269
Symbol	BAX
VIP Gene	Yes
Has CPIC Guideline	No
Chromosome	chr19

Attribute	Value
Expression Breadth	Ubiquitous
Total Present Calls	244
Maximum Expression Score	98.83

Tissue	Expression Score	Call Quality
Mucosa of transverse colon	98.83	Gold
Stromal cell of endometrium	98.46	Gold
Granulocyte	98.36	Gold
Monocyte	97.84	Gold
Gall bladder	96.79	Gold
Leukocyte	96.78	Gold
Mononuclear cell	96.70	Gold
Right lung	96.44	Gold
Small intestine Peyer's patch	96.36	Gold
Rectum	96.33	Gold
Upper lobe of left lung	96.27	Gold
Spleen	96.05	Gold
Transverse colon	96.04	Gold
Ascending aorta	95.91	Gold
Thoracic aorta	95.88	Gold
Right adrenal gland cortex	95.48	Gold
Ectocervix	95.37	Gold
Right coronary artery	95.30	Gold
Endocervix	95.23	Gold
Ventricular zone	95.13	Gold
Right adrenal gland	95.02	Gold
Descending thoracic aorta	94.97	Gold
Brodmann area 10	94.94	Silver
Lower esophagus mucosa	94.85	Gold
Ganglionic eminence	94.78	Gold
Body of stomach	94.72	Gold
Left adrenal gland	94.71	Gold
Cortical plate	94.71	Gold
Left uterine tube	94.67	Gold
Right lobe of thyroid gland	94.66	Gold

Dataset ID	Description	Species	Cells
E-CURD-10	Single-cell transcriptome profiling for metastatic renal cell carcinoma patient-derived cells and xenografts	Homo sapiens	118
E-MTAB-6524	Transcriptomic profile of human induced pluripotent stem cells at single cell resolution	Homo sapiens	10,926

HPO ID	Phenotype
HP:0000006	Autosomal dominant inheritance
HP:0001442	Typified by somatic mosaicism
HP:0002891	Uterine leiomyosarcoma
HP:0003003	Colon cancer
HP:0005584	Renal cell carcinoma
HP:0006716	Hereditary nonpolyposis colorectal carcinoma
HP:0006721	Acute lymphoblastic leukemia
HP:0006740	Transitional cell carcinoma of the bladder
HP:0006753	Neoplasm of the stomach
HP:0010982	Polygenic inheritance

Study ID	Trait	P-value
GCST90002381_427	Eosinophil count	3.0e-17
GCST90002382_599	Eosinophil percentage of white cells	3.0e-12
GCST90002388_43	Lymphocyte count	8.0e-12
GCST004624_101	Sum eosinophil basophil counts	1.0e-11
GCST004606_111	Eosinophil count	1.0e-10
GCST90002400_617	Plateletcrit	7.0e-09
GCST90002407_309	White blood cell count	6.0e-09
GCST004623_88	Neutrophil percentage of granulocytes	3.0e-09
GCST003831_37	Asthma	8.0e-06

Cancer Type	HPO ID	Evidence
Colon cancer	HP:0003003	Phenotype association
Acute lymphoblastic leukemia	HP:0006721	GenCC, Phenotype
Renal cell carcinoma	HP:0005584	Phenotype association
Uterine leiomyosarcoma	HP:0002891	Phenotype association
Transitional cell carcinoma (bladder)	HP:0006740	Phenotype association
Gastric neoplasm	HP:0006753	Phenotype association
HNPCC	HP:0006716	Phenotype association

Category	Count
Ensembl Transcripts	13
RefSeq Transcripts (Human)	9
CCDS IDs	5
UniProt Entries	1 (reviewed)
InterPro Domains	7
PDB Structures	37
AlphaFold Models	1
Orthologs	6
ClinVar Variants	53
SpliceAI Predictions	837+
AlphaMissense Predictions	1,250+
Reactome Pathways	7
GO Terms	110
IntAct Interactions	268+
BioGRID Interactions	270+
SIGNOR Relations	53
TF Regulators	73
ChEMBL Compounds	43
Bgee Tissue Calls	244
GWAS Associations	9
HPO Phenotypes	10