Provide a comprehensive cross-database identifier and functional mapping reference for human HBB. 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 HBB. 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
DatabaseIdentifierNotes HGNC IDHGNC:4827Approved HGNC SymbolHBB HGNC Namehemoglobin subunit beta Ensembl Gene IDENSG00000244734 NCBI Entrez Gene ID3043 OMIM Gene/Locus ID141900 CCDS IDCCDS7753 Genomic Location AttributeValue Chromosome11 Cytogenetic Band11p15.4 Start Position (GRCh38)5,225,464 End Position (GRCh38)5,229,395 StrandMinus (-) Biotypeprotein_coding Aliases and Previous Names Aliases: CD113t-C, beta-globin, ECYT6 Previous Names: hemoglobin, beta Gene …

Ensembl Transcript ID	Biotype	Start	End	Strand
ENST00000335295	protein_coding	5,225,464	5,227,071	-
ENST00000380315	protein_coding	5,226,620	5,229,395	-
ENST00000475226	retained_intron	5,225,655	5,226,823	-
ENST00000485743	protein_coding	5,226,263	5,227,072	-
ENST00000633227	nonsense_mediated_decay	5,225,467	5,227,071	-
ENST00000647020	protein_coding	5,225,464	5,227,197	-
ENST00000883533	protein_coding	5,225,464	5,227,306	-

RefSeq ID	Type	Status	MANE Select
NM_000518	mRNA	REVIEWED	Yes (Canonical)
NP_000509	protein	REVIEWED	Yes

Exon ID	Start	End	Strand	Chromosome
ENSE00001829867	5,226,930	5,227,071	-	11
ENSE00001057381	5,226,577	5,226,799	-	11
ENSE00001600613	5,225,464	5,225,726	-	11

UniProt ID	Status	Name	Length	Mass
P68871	Canonical (Reviewed)	Hemoglobin subunit beta	147 aa	15,998 Da
A0A0J9YWK4	Unreviewed	-	-	-
A0A2R8Y7R2	Unreviewed	-	-	-
D9YZU5	Unreviewed	-	-	-
F8W6P5	Unreviewed	-	-	-

RefSeq Protein ID	Status
NP_000509	REVIEWED (canonical)
NP_150237	PROVISIONAL

HBB Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Notes
HGNC ID	HGNC:4827	Approved
HGNC Symbol	HBB
HGNC Name	hemoglobin subunit beta
Ensembl Gene ID	ENSG00000244734
NCBI Entrez Gene ID	3043
OMIM Gene/Locus ID	141900
CCDS ID	CCDS7753

Attribute	Value
Chromosome	11
Cytogenetic Band	11p15.4
Start Position (GRCh38)	5,225,464
End Position (GRCh38)	5,229,395
Strand	Minus (-)
Biotype	protein_coding

InterPro ID	Name	Type
IPR000971	Globin	Domain
IPR002337	Hemoglobin_b	Family
IPR009050	Globin-like_sf	Homologous superfamily
IPR012292	Globin/Proto	Homologous superfamily
IPR050056	Hemoglobin_oxygen_transport	Family

PDB ID	Method	Resolution (Å)	Title
1IRD	X-RAY DIFFRACTION	1.25	Crystal Structure of Human Carbonmonoxy-Haemoglobin
J3Y	X-RAY DIFFRACTION	1.55	Photolysis-induced tertiary structural changes
1J40	X-RAY DIFFRACTION	1.45	Alpha(Ni)-beta(Fe-CO) hemoglobin
1J41	X-RAY DIFFRACTION	1.45	Alpha(Ni)-beta(Fe) hemoglobin
1BAB	X-RAY DIFFRACTION	1.50	Hemoglobin Thionville
1BZ0	X-RAY DIFFRACTION	1.50	Hemoglobin A (deoxy, high salt)
1THB	X-RAY DIFFRACTION	1.50	Partially oxygenated T state haemoglobin
1UIW	X-RAY DIFFRACTION	1.50	Half-liganded human hemoglobin derivatives
1BZ1	X-RAY DIFFRACTION	1.59	Hemoglobin (alpha + Met) variant
1BZZ	X-RAY DIFFRACTION	1.59	Hemoglobin (alpha V1M) mutant
1J3Z	X-RAY DIFFRACTION	1.60	Alpha(Fe-CO)-beta(Ni) hemoglobin
1BBB	X-RAY DIFFRACTION	1.70	Third quaternary structure of human hemoglobin
1DXT	X-RAY DIFFRACTION	1.70	Deoxy recombinant human hemoglobins
1DXU	X-RAY DIFFRACTION	1.70	Deoxy recombinant human hemoglobins
1DXV	X-RAY DIFFRACTION	1.70	Deoxy recombinant human hemoglobins
1J7Y	X-RAY DIFFRACTION	1.70	Partially ligated mutant of HbA
1QSH	X-RAY DIFFRACTION	1.70	Magnesium(II)-protoporphyrin hemoglobin
1QSI	X-RAY DIFFRACTION	1.70	Zinc(II)-protoporphyrin hemoglobin
1CBM	X-RAY DIFFRACTION	1.74	Carbonmonoxy-beta4 hemoglobin
1NQP	X-RAY DIFFRACTION	1.73	Human hemoglobin E
1A3N	X-RAY DIFFRACTION	1.80	Deoxy human hemoglobin
1A3O	X-RAY DIFFRACTION	1.80	Mutant (alpha Y42H) of deoxy hemoglobin
1CBL	X-RAY DIFFRACTION	1.80	Deoxy-beta4 hemoglobin
1A01	X-RAY DIFFRACTION	1.80	Hemoglobin (Val beta1 Met, Trp beta37 Ala) mutant
1SDK	X-RAY DIFFRACTION	1.80	Cross-linked, carbonmonoxy hemoglobin A
1SDL	X-RAY DIFFRACTION	1.80	Cross-linked, carbonmonoxy hemoglobin A
1GBU	X-RAY DIFFRACTION	1.80	Deoxy (beta-(C93A,C112G)) human hemoglobin
1C7C	X-RAY DIFFRACTION	1.80	Deoxy RHb1.1 (recombinant hemoglobin)
1C7D	X-RAY DIFFRACTION	1.80	Deoxy RHb1.2 (recombinant hemoglobin)
1O1L	X-RAY DIFFRACTION	1.80	Deoxy hemoglobin (mutant)
1O1N	X-RAY DIFFRACTION	1.80	Deoxy hemoglobin (mutant)
1O1O	X-RAY DIFFRACTION	1.80	Deoxy hemoglobin (mutant)
1O1P	X-RAY DIFFRACTION	1.80	Deoxy hemoglobin (mutant)
1R1Y	X-RAY DIFFRACTION	1.80	Deoxy-human hemoglobin Bassett
1G9V	X-RAY DIFFRACTION	1.85	Deoxy hemoglobin with allosteric effector
1QXE	X-RAY DIFFRACTION	1.85	Antisickling compound complex
1O1M	X-RAY DIFFRACTION	1.85	Deoxy hemoglobin (mutant)
1K0Y	X-RAY DIFFRACTION	1.87	Symmetrical allosteric effectors of hemoglobin
1KD2	X-RAY DIFFRACTION	1.87	Human deoxyhemoglobin without anions
1HBB	X-RAY DIFFRACTION	1.90	Deoxyhemoglobin Rothschild 37beta
1BUW	X-RAY DIFFRACTION	1.90	S-nitroso-nitrosyl human hemoglobin A
1CLS	X-RAY DIFFRACTION	1.90	Cross-linked human hemoglobin deoxy
1VWT	X-RAY DIFFRACTION	1.90	T state human hemoglobin [alpha V96W]
1O1J	X-RAY DIFFRACTION	1.90	Deoxy hemoglobin (mutant)
1RQ3	X-RAY DIFFRACTION	1.91	Interaction of NO with deoxyhemoglobin
1XXT	X-RAY DIFFRACTION	1.91	T-to-T high transitions in human hemoglobin
1XY0	X-RAY DIFFRACTION	1.99	alphaK40G deoxy low-salt
1A00	X-RAY DIFFRACTION	2.00	Hemoglobin (Val beta1 Met, Trp beta37 Tyr) mutant
1ABW	X-RAY DIFFRACTION	2.00	Deoxy RHb1.1 (recombinant hemoglobin)
1GBV	X-RAY DIFFRACTION	2.00	T-state human hemoglobin

Organism	Ensembl Gene ID	Symbol	Biotype
Zebrafish (Danio rerio)	ENSDARG00000097011	hbaa1	protein_coding
Zebrafish	ENSDARG00000069735	hbaa2	protein_coding
Zebrafish	ENSDARG00000045142	hbae5	protein_coding
Zebrafish	ENSDARG00000079305	hbae3	protein_coding
Zebrafish	ENSDARG00000088330	hbae1.2	protein_coding
Zebrafish	ENSDARG00000089124	hbae1.3	protein_coding
Zebrafish	ENSDARG00000089475	hbae1.1	protein_coding
Zebrafish	ENSDARG00000079078	si:ch211-5k11.8	protein_coding
Fruit fly (D. melanogaster)	FBGN0027657	glob1	protein_coding
Worm (C. elegans)	WBGENE00008996	-	-
Worm (C. elegans)	WBGENE00077763	-	-

Classification	Count (Approximate)
Pathogenic	300+
Likely Pathogenic	50+
Uncertain Significance (VUS)	100+
Likely Benign	800+
Benign	300+
Conflicting	50+

Variant ID	HGVS Notation	Type	Classification
15333	c.20A>T (p.Glu7Val)	SNV	Pathogenic (Sickle cell - HbS)
15161	c.79G>A (p.Glu27Lys)	SNV	Pathogenic (HbE)
15436	c.92+1G>A	SNV	Pathogenic (splice)
15437	c.92+1G>T	SNV	Pathogenic (splice)
15438	c.315+1G>A	SNV	Pathogenic (splice)
15446	c.93-1G>A	SNV	Pathogenic (splice)
15447	c.92+5G>C	SNV	Pathogenic (splice)
15448	c.92+5G>T	SNV	Pathogenic (splice)
15449	c.92+5G>A	SNV	Pathogenic (splice)
15401	c.52A>T (p.Lys18Ter)	SNV	Pathogenic (nonsense)
15402	c.118C>T (p.Gln40Ter)	SNV	Pathogenic (nonsense)
15403	c.47G>A (p.Trp16Ter)	SNV	Pathogenic (nonsense)
15404	c.364G>T (p.Glu122Ter)	SNV	Pathogenic (nonsense)
15405	c.114G>A (p.Trp38Ter)	SNV	Pathogenic (nonsense)
15406	c.130G>T (p.Glu44Ter)	SNV	Pathogenic (nonsense)
15407	c.184A>T (p.Lys62Ter)	SNV	Pathogenic (nonsense)
15408	c.108C>A (p.Tyr36Ter)	SNV	Pathogenic (nonsense)
15413	c.25_26del (p.Lys9fs)	Deletion	Pathogenic (frameshift)
15414	c.51del (p.Lys18fs)	Deletion	Pathogenic (frameshift)
15418	c.20del (p.Glu7fs)	Deletion	Pathogenic (frameshift)
15420	c.230del (p.Ala77fs)	Deletion	Pathogenic (frameshift)
15422	c.17_18del (p.Pro6fs)	Deletion	Pathogenic (frameshift)
15423	c.36del (p.Thr13fs)	Deletion	Pathogenic (frameshift)
15426	c.45dup (p.Trp16fs)	Duplication	Pathogenic (frameshift)
15427	c.114_120del	Deletion	Pathogenic
15431	c.112del (p.Trp38fs)	Deletion	Pathogenic (frameshift)
15432	c.85dup (p.Leu29fs)	Duplication	Pathogenic (frameshift)
15434	c.2T>G (p.Met1Arg)	SNV	Pathogenic (start loss)
15519	c.3G>A (p.Met1Ile)	SNV	Pathogenic (start loss)
15466	c.-81A>G	SNV	Pathogenic (promoter)
15470	c.-78A>C	SNV	Pathogenic (promoter)
15473	c.*113A>G	SNV	Pathogenic (3'UTR)
15488	c.*111A>G	SNV	Pathogenic (3'UTR)
15458	c.316-197C>T	SNV	Pathogenic (intronic)
15190	c.128T>C (p.Phe43Ser)	SNV	Pathogenic
15256	c.190C>T (p.His64Tyr)	SNV	Pathogenic
15241	c.295G>A (p.Val99Met)	SNV	Pathogenic
15342	c.328G>A (p.Val110Met)	SNV	Pathogenic
15352	c.332T>C (p.Leu111Pro)	SNV	Pathogenic
15526	c.347C>A (p.Ala116Asp)	SNV	Pathogenic
15322	c.437A>G (p.Tyr146Cys)	SNV	Pathogenic
15442	c.93-22_95del	Deletion	Pathogenic
15485	c.143dup (p.Asp48fs)	Duplication	Pathogenic
15504	c.271G>T (p.Glu91Ter)	SNV	Pathogenic
1065151	c.233_234del (p.His78fs)	Deletion	Likely pathogenic
1098798	c.126dup (p.Phe43fs)	Duplication	Likely pathogenic
1459872	c.380_396del (p.Val127fs)	Deletion	Pathogenic
15096	c.435G>C (p.Lys145Asn)	SNV	Pathogenic
15536	c.202G>A (p.Val68Met)	SNV	Pathogenic
15545	c.422C>T (p.Ala141Val)	SNV	Pathogenic

Genomic Position	Protein Change	AM Score	AM Class
11:5225606:A>G	Y146H	0.998	likely_pathogenic
11:5225605:T>C	Y146C	0.989	likely_pathogenic
11:5225617:A>G	L142P	0.990	likely_pathogenic
11:5225621:C>G	A141P	0.990	likely_pathogenic
11:5225617:A>T	L142Q	0.989	likely_pathogenic
11:5225620:G>T	A141D	0.986	likely_pathogenic
11:5225627:C>G	A139P	0.985	likely_pathogenic
11:5225636:C>G	A136P	0.949	likely_pathogenic
11:5225626:G>T	A139D	0.985	likely_pathogenic
11:5225632:C>T	G137D	0.949	likely_pathogenic
11:5225614:G>T	A143D	0.981	likely_pathogenic
11:5225643:T>A	K133N	0.975	likely_pathogenic
11:5225641:A>T	V134E	0.975	likely_pathogenic
11:5225617:A>C	L142R	0.974	likely_pathogenic
11:5225629:A>T	V138E	0.973	likely_pathogenic
11:5225603:G>C	H147D	0.971	likely_pathogenic
11:5225645:T>C	K133E	0.965	likely_pathogenic
11:5225633:C>G	G137R	0.959	likely_pathogenic
11:5225638:A>T	V135E	0.955	likely_pathogenic
11:5225601:G>C	H147Q	0.941	likely_pathogenic
11:5225620:G>A	A141V	0.928	likely_pathogenic
11:5225644:T>G	K133T	0.927	likely_pathogenic
11:5225607:C>A	K145N	0.924	likely_pathogenic
11:5225621:C>T	A141T	0.898	likely_pathogenic
11:5225603:G>T	H147N	0.898	likely_pathogenic
11:5225645:T>G	K133Q	0.890	likely_pathogenic
11:5225626:G>A	A139V	0.833	likely_pathogenic
11:5225614:G>A	A143V	0.880	likely_pathogenic
11:5225605:T>A	Y146F	0.878	likely_pathogenic
11:5225606:A>C	Y146D	0.985	likely_pathogenic
11:5225606:A>T	Y146N	0.978	likely_pathogenic
11:5225605:T>G	Y146S	0.976	likely_pathogenic
11:5225644:T>A	K133I	0.979	likely_pathogenic
11:5225602:T>A	H147L	0.874	likely_pathogenic
11:5225602:T>C	H147R	0.874	likely_pathogenic
11:5225608:T>A	K145M	0.870	likely_pathogenic
11:5225630:C>T	V138M	0.867	likely_pathogenic
11:5225611:T:G	H144P	0.858	likely_pathogenic
11:5225602:T:G	H147P	0.858	likely_pathogenic
11:5225630:C>A	V138L	0.851	likely_pathogenic
11:5225629:A>G	V138A	0.800	likely_pathogenic
11:5225612:G>C	H144D	0.807	likely_pathogenic
11:5225608:T:G	K145T	0.792	likely_pathogenic
11:5225618:G:C	L142V	0.767	likely_pathogenic
11:5225609:T:C	K145E	0.762	likely_pathogenic
11:5225639:C:A	V135L	0.754	likely_pathogenic
11:5225629:A:C	V138G	0.744	likely_pathogenic
11:5225615:C:T	A143T	0.732	likely_pathogenic
11:5225627:C:T	A139T	0.717	likely_pathogenic
11:5225641:A:C	V134G	0.714	likely_pathogenic

Variant ID	Effect	Delta Score
11:5225727:C:CC	acceptor_gain	0.99
11:5225723:GGAG:G	acceptor_gain	0.97
11:5225728:T:A	acceptor_loss	0.98
11:5225723:GGAGC:G	acceptor_loss	0.98
11:5225725:AGCT:A	acceptor_loss	0.98
11:5225726:GCTG:G	acceptor_loss	0.98
11:5225727:CT:C	acceptor_loss	0.98
11:5225927:TA:T	donor_gain	0.98
11:5225928:AA:A	donor_gain	0.98
11:5225928:AAC:A	donor_gain	0.98
11:5225929:A:C	donor_gain	0.97
11:5225940:A:AC	donor_gain	0.99
11:5225923:G:A	donor_gain	0.94
11:5225724:GAG:G	acceptor_gain	0.93
11:5225722:AGGAG:A	acceptor_gain	0.91
11:5225725:AG:A	acceptor_gain	0.91
11:5225943:A:AC	donor_gain	0.90
11:5225944:C:CC	donor_gain	0.90
11:5225872:A:C	donor_gain	0.90
11:5225729:G:C	acceptor_gain	0.88
11:5225920:A:AC	donor_gain	0.87
11:5225729:G:GC	acceptor_gain	0.82
11:5225926:TTA:T	donor_gain	0.78
11:5225871:CAT:C	donor_gain	0.77
11:5225832:G:C	donor_gain	0.72
11:5225870:A:AC	donor_gain	0.64
11:5225871:C:CC	donor_gain	0.64
11:5225866:T:TA	donor_gain	0.62
11:5225864:CCTC:C	donor_gain	0.61
11:5225863:ACCT:A	donor_gain	0.61
11:5225876:G:C	donor_gain	0.60
11:5225862:AACCT:A	donor_gain	0.58
11:5225941:T:C	donor_gain	0.49
11:5225740:A:AC	acceptor_gain	0.49
11:5225996:CC:C	acceptor_gain	0.45
11:5225997:CC:C	acceptor_gain	0.45
11:5225995:GCCCT:G	acceptor_loss	0.41
11:5225996:CCCTG:C	acceptor_loss	0.41
11:5225998:CT:C	acceptor_loss	0.41
11:5225999:T:G	acceptor_loss	0.41
11:5226000:G:C	acceptor_loss	0.41
11:5226002:A:C	acceptor_loss	0.40
11:5226003:A:C	acceptor_loss	0.39
11:5225747:G:C	acceptor_gain	0.37
11:5226001:A:AC	acceptor_loss	0.37
11:5225949:A:C	acceptor_gain	0.36
11:5225749:A:AC	acceptor_gain	0.35
11:5225979:A:C	acceptor_gain	0.35
11:5226007:A:T	acceptor_loss	0.34
11:5225955:T:C	acceptor_gain	0.34

Reactome ID	Pathway Name	Disease Pathway
R-HSA-1237044	Erythrocytes take up carbon dioxide and release oxygen	No
R-HSA-1247673	Erythrocytes take up oxygen and release carbon dioxide	No
R-HSA-2168880	Scavenging of heme from plasma	No
R-HSA-6798695	Neutrophil degranulation	No
R-HSA-9613829	Chaperone Mediated Autophagy	No
R-HSA-9615710	Late endosomal microautophagy	No
R-HSA-9707564	Cytoprotection by HMOX1	No
R-HSA-9707616	Heme signaling	No
R-HSA-983231	Factors involved in megakaryocyte development and platelet production	No
R-HSA-9927020	Heme assimilation	Yes

GO ID	Term
GO:0005344	oxygen carrier activity
GO:0019825	oxygen binding
GO:0020037	heme binding
GO:0030492	hemoglobin binding
GO:0031721	hemoglobin alpha binding
GO:0046872	metal ion binding

GO ID	Term
GO:0006954	inflammatory response
GO:0008217	regulation of blood pressure
GO:0015670	carbon dioxide transport
GO:0015671	oxygen transport
GO:0030185	nitric oxide transport
GO:0042542	response to hydrogen peroxide
GO:0042744	hydrogen peroxide catabolic process
GO:0045429	positive regulation of nitric oxide biosynthetic process
GO:0048821	erythrocyte development
GO:0070293	renal absorption
GO:0070527	platelet aggregation
GO:0097746	blood vessel diameter maintenance
GO:0098869	cellular oxidant detoxification

GO ID	Term
GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005829	cytosol
GO:0005833	hemoglobin complex
GO:0031838	haptoglobin-hemoglobin complex
GO:0070062	extracellular exosome
GO:0071682	endocytic vesicle lumen
GO:0072562	blood microparticle
GO:1904724	tertiary granule lumen
GO:1904813	ficolin-1-rich granule lumen

Interaction ID	Partner Gene	Interaction Type	Confidence
EBI-1025826	HBA1	direct interaction	0.970
EBI-1025836	HBA1	direct interaction	0.970
EBI-1025847	HBA1	direct interaction	0.970
EBI-1025857	HBA1	direct interaction	0.970
EBI-1025867	HBA1	direct interaction	0.970
EBI-1025877	HBA1	direct interaction	0.970
EBI-1025887	HBA1	direct interaction	0.970
EBI-1026804	HBA1	direct interaction	0.970
EBI-1027413	HBA1	direct interaction	0.970
EBI-1027502	HBA1	direct interaction	0.970
EBI-1027513	HBA1	direct interaction	0.970
EBI-1027836	HBA1	direct interaction	0.970
EBI-1029796	HBA1	direct interaction	0.970
EBI-1029806	HBA1	direct interaction	0.970
EBI-1029816	HBA1	direct interaction	0.970
EBI-1032478	HBA1	direct interaction	0.970
EBI-1032489	HBA1	direct interaction	0.970
EBI-1042156	HBA1	direct interaction	0.970
EBI-20733296	HBA1	proximity	0.970
EBI-20733566	HBA1	proximity	0.970
EBI-20735471	HBA1	physical association	0.970
EBI-20735651	HBA1	physical association	0.970
EBI-24543794	HBA1	physical association	0.970
EBI-26607643	HBA1	physical association	0.970
EBI-26872082	HBA1	physical association	0.970
EBI-48442994	HBA1	proximity	0.970
EBI-48443154	HBA1	proximity	0.970
EBI-48444412	HBA1	physical association	0.970
EBI-25472377	MED4/MED19	association	0.900
EBI-22086955	HBZ	physical association	0.860
EBI-22144391	HBZ	physical association	0.860
EBI-24217588	HBZ	physical association	0.860
EBI-24809306	HBZ	physical association	0.860
EBI-25224483	HBZ	physical association	0.860
EBI-21817664	MAPK6/HERC2	association	0.840
EBI-21656272	PSMC5/PSMD11	association	0.730
EBI-21714606	HSPA8/GAK	association	0.760
EBI-21694732	FAM234B/ABCD4	association	0.620
EBI-21853241	LPAR2/LGALS3	association	0.620
EBI-21878389	GRID1	physical association	0.590

UniProt ID	Similarity Count	Top Similarity	Avg Similarity
P61772	50	1.0000	0.9993
P61773	50	1.0000	0.9993
P61774	50	1.0000	0.9993
P61775	50	1.0000	0.9993
P68222	50	1.0000	0.9993
P68223	50	1.0000	0.9993
P68224	50	1.0000	0.9993
P68225	50	1.0000	0.9993
P02038	50	1.0000	0.9992
P68054	50	1.0000	0.9992
P68055	50	1.0000	0.9992
P68232	50	1.0000	0.9994
P68234	50	1.0000	0.9994
P67819	50	1.0000	0.9986
P67820	50	1.0000	0.9986
P67823	50	1.0000	0.9987
P67824	50	1.0000	0.9987
P02024	50	0.9999	0.9992
P02025	50	0.9999	0.9993
P02029	50	0.9999	0.9993

UniProt ID	Top Identity (%)	Top Bitscore
P02024	99.3	303
P02030	100.0	302
P02026	99.3	302
P02029	99.3	301
P02042	99.3	301
P02031	98.6	300
P02035	99.3	300
P02038	99.3	300
P02040	99.3	300
P10893	99.3	300
P15449	99.3	300
P02025	98.6	299
P02032	98.6	299
D0VX08	100.0	298
P02028	98.6	298
P08259	98.6	301
P18982	98.6	298
P18983	99.3	302
P07415	100.0	301
P14391	100.0	298

TF Gene	Regulation	Confidence
KLF1	Unknown	High
GATA1	Unknown	High
NFE2	Activation	High
BCL11A	Repression	-
KLF2	Activation	High
BACH1	Activation	High
BACH2	Repression	-
CEBPB	Unknown	High
CEBPD	Activation	High
CEBPG	Unknown	High
EPAS1	Activation	-
EPO	Activation	-
ETV6	Activation	-
FLI1	Repression	High
GLI3	Unknown	Low
GTF2I	Unknown	High
HIF1A	Unknown	-
HLTF	Activation	High
HMGA1	Unknown	High
HOXC13	Repression	High
JUN	Unknown	High
KAT7	Unknown	High
KLF8	Repression	-
KLF11	Unknown	Low
MAFK	Unknown	High
MAPK11	Activation	-
MAPK14	Activation	-
MYB	Unknown	Low
MYC	Unknown	High
NFE2L1	Activation	Low
NFE2L2	Unknown	High
NFE2L3	Repression	Low
NFYA	Unknown	-
NFYB	Unknown	-
NFYC	Unknown	-
NR1I2	Unknown	High
NR2F2	Unknown	-
POU2F1	Unknown	-
POU2F2	Unknown	Low
RBPJ	Activation	Low
SMARCA1	Unknown	High
SP1	Unknown	Low
SP2	Unknown	Low
SPI1	Repression	Low
STAT5A	Activation	-
SUZ12	Unknown	Low
TBP	Unknown	High
TFAP2A	Unknown	High
TFCP2	Unknown	Low
TGFB1	Activation	-
TP53	Unknown	Low
USF1	Unknown	High
USF2	Unknown	Low
ZFPM1	Unknown	Low
ZNF354C	Unknown	High
ZNF362	Unknown	Low

ChEMBL Target ID	Name	Type
CHEMBL4331	Hemoglobin subunit beta	SINGLE PROTEIN
CHEMBL2095168	Hemoglobin HbA	PROTEIN COMPLEX

ChEMBL ID	Name	Type	Highest Dev Phase
CHEMBL1014	CANDESARTAN CILEXETIL	Small molecule	4 (Approved)
CHEMBL1201001	MECHLORETHAMINE HCl	Small molecule	4 (Approved)
CHEMBL1201022	PHENAZOPYRIDINE HCl	Small molecule	4 (Approved)
CHEMBL1425	MERCAPTOPURINE	Small molecule	4 (Approved)
CHEMBL140	CURCUMIN	Small molecule	3
CHEMBL1232461	MOLIBRESIB	Small molecule	2
CHEMBL102714	SB-216763	Small molecule	0
CHEMBL123	ELLIPTECINE	Small molecule	0
CHEMBL1208903	ISOGINKGETIN	Small molecule	0
CHEMBL1314376	GINKGETIN, K salt	Small molecule	0
CHEMBL1333953	PHENYLMERCURIC ACETATE	Small molecule	0
CHEMBL1399702	NEBULARINE	Small molecule	0

Attribute	Value
PharmGKB ID	PA29202
VIP Gene	Yes
Has CPIC Guideline	No
Chromosome	chr11

Tissue/Cell Type	Expression Score	Expression Rank	Quality
Monocyte	100.00	3	Gold
Trabecular bone tissue	100.00	2	Gold
Vena cava	100.00	2	Gold
Periodontal ligament	100.00	3	Gold
Mononuclear cell	99.99	5	Gold
Bone marrow	99.99	6	Gold
Bone marrow cell	99.98	12	Gold
Triceps brachii	99.98	10	Gold
Skeletal muscle (biceps brachii)	99.98	12	Gold
Gluteal muscle	99.97	16	Gold
Biceps brachii	99.96	19	Gold
Blood	99.92	40	Gold
Adult organism	99.92	37	Gold
Decidua	99.90	47	Gold
Bronchial epithelial cell	99.89	54	Gold
Spleen	99.81	88	Gold
Diaphragm	99.76	114	Gold
Skeletal muscle (rectus abdominis)	99.76	113	Gold
Apex of heart	99.75	118	Gold
Colonic epithelium	99.71	137	Gold
Bronchus epithelium	99.71	135	Gold
Cardia of stomach	99.69	147	Gold
Placenta	99.68	149	Gold
Inferior olivary complex	99.68	151	Gold
Vastus lateralis	99.67	154	Gold
Trigeminal ganglion	99.64	168	Gold
Superior vestibular nucleus	99.59	194	Gold
Gall bladder	99.57	203	Gold
Metanephros cortex	99.57	201	Gold
Lower esophagus mucosa	99.57	203	Gold

Experiment ID	Description	Species	Cell Count
E-HCAD-4	Census of Immune Cells	Homo sapiens	791,344
E-MTAB-7407	Human fetal liver, skin and kidney	Homo sapiens	473,803
E-CURD-122	Cross-tissue immune cell analysis	Homo sapiens	356,580
E-MTAB-9543	Human gastrointestinal tract	Homo sapiens	319,479
E-CURD-98	Human Fetal Liver	Homo sapiens	197,943
E-CURD-112	Fetal bone marrow haematopoiesis	Homo sapiens	56,592
E-MTAB-6653	Lung carcinomas	Homo sapiens	55,719
E-MTAB-10662	Human fetal lung	Homo sapiens	39,900
E-HCAD-6	CD34+ cells from bone marrow	Homo sapiens	34,596
E-MTAB-9221	COVID-19 patient blood	Homo sapiens	27,943
E-MTAB-10553	Human liver cells	Homo sapiens	24,355
E-MTAB-10042	Fetal bone marrow haematopoiesis	Homo sapiens	21,485
E-MTAB-8884	Chronic myelomonocytic leukemia	Homo sapiens	9,386
E-MTAB-10432	Post-MI heart failure bone niche	Homo sapiens	8,228
E-CURD-6	Normal human bone marrow	Homo sapiens	1,024

Disease	OMIM/MONDO/Orphanet ID	Inheritance	Classification	Submitter
Sickle cell disease	OMIM:603903	AR	Strong	Labcorp Genetics
Beta-thalassemia HBB/LCRB	OMIM:613985	AR/Semidominant	Definitive/Strong	Ambry/Labcorp
Beta thalassemia	MONDO:0019402	AR	Definitive	Myriad
Dominant beta-thalassemia	OMIM:603902	AD	Strong	Labcorp Genetics
Hemoglobin M disease	OMIM:617971	AD	Moderate	Ambry Genetics
Erythrocytosis, familial, 6	OMIM:617980	AD	Strong	Genomics England
Heinz body anemia	OMIM:140700	AD	Strong	Labcorp Genetics
Hemoglobin C disease	ORPHANET:2132	AR	Supportive	Orphanet
Hemoglobin E disease	ORPHANET:2133	AR	Supportive	Orphanet
Beta-thalassemia major	ORPHANET:231214	AR	Supportive	Orphanet
Beta-thalassemia intermedia	ORPHANET:231222	AR	Supportive	Orphanet
Unstable beta globin variant	ORPHANET:231226	AD	Supportive	Orphanet
Delta-beta-thalassemia	ORPHANET:231237	AR	Supportive	Orphanet
Hemoglobin C-beta-thalassemia	ORPHANET:231242	AR	Supportive	Orphanet
Hemoglobin E-beta-thalassemia	ORPHANET:231249	AR	Supportive	Orphanet
Sickle cell-beta-thalassemia	ORPHANET:251359	AR	Supportive	Orphanet
Sickle cell-hemoglobin C	ORPHANET:251365	AR	Supportive	Orphanet
Sickle cell-hemoglobin D	ORPHANET:251370	AR	Supportive	Orphanet
Sickle cell-hemoglobin E	ORPHANET:251375	AR	Supportive	Orphanet
HPFH-sickle cell syndrome	ORPHANET:251380	AR	Supportive	Orphanet
HPFH-beta-thalassemia	ORPHANET:46532	AD	Supportive	Orphanet

Orphanet ID	Disease Name	Type	Phenotype Count
232	Sickle cell anemia	Disease	37
231214	Beta-thalassemia major	Disease	50
231222	Beta-thalassemia intermedia	Disease	36
231226	Unstable beta globin chain variant	Disease	49
2133	Hemoglobin E disease	Disease	13
90039	Hemoglobin D disease	Disease	14
251380	HPFH-sickle cell disease syndrome	Disease	13
46532	HPFH-beta-thalassemia syndrome	Disease	6
2132	Hemoglobin C disease	Disease	0
231237	Delta-beta-thalassemia	Disease	3
231242	Hemoglobin C-beta-thalassemia	Disease	4
231249	Hemoglobin E-beta-thalassemia	Disease	4
330041	Hemoglobin M disease	Disease	0
247511	Autosomal dominant secondary polycythemia	Disease	0

HPO ID	Phenotype
HP:0001878	Hemolytic anemia
HP:0001903	Anemia
HP:0001935	Microcytic anemia
HP:0001931	Hypochromic anemia
HP:0004840	Hypochromic microcytic anemia
HP:0004870	Chronic hemolytic anemia
HP:0001930	Nonspherocytic hemolytic anemia
HP:0005511	Heinz body anemia
HP:0001923	Reticulocytosis
HP:0008346	Increased red cell sickling tendency
HP:0001744	Splenomegaly
HP:0001971	Hypersplenism
HP:0001433	Hepatosplenomegaly
HP:0002240	Hepatomegaly
HP:0000952	Jaundice
HP:0008282	Unconjugated hyperbilirubinemia
HP:0001081	Cholelithiasis
HP:0001297	Stroke
HP:0002140	Ischemic stroke
HP:0000980	Pallor
HP:0000961	Cyanosis
HP:0001510	Growth delay
HP:0001531	Failure to thrive in infancy
HP:0000823	Delayed puberty
HP:0000135	Hypogonadism
HP:0001640	Cardiomegaly
HP:0001644	Dilated cardiomyopathy
HP:0001722	High-output congestive heart failure
HP:0002092	Pulmonary arterial hypertension
HP:0002094	Dyspnea
HP:0000939	Osteoporosis
HP:0000938	Osteopenia
HP:0002659	Increased susceptibility to fractures
HP:0002754	Osteomyelitis
HP:0010885	Avascular necrosis
HP:0002719	Recurrent infections
HP:0002718	Recurrent bacterial infections
HP:0001954	Recurrent fever
HP:0000083	Renal insufficiency
HP:0000790	Hematuria
HP:0003281	Increased circulating ferritin concentration
HP:0001978	Extramedullary hematopoiesis
HP:0002007	Frontal bossing
HP:0005280	Depressed nasal bridge
HP:0010620	Malar prominence
HP:0000582	Upslanted palpebral fissure
HP:0001901	Polycythemia
HP:0001899	Increased hematocrit
HP:0001900	Increased hemoglobin concentration
HP:0002027	Abdominal pain

Study ID	Trait/Disease	P-value	Chromosome
GCST010725_48	Malaria	4.0e-69	11
GCST010725_61	Malaria	2.0e-67	11
GCST010725_1	Malaria	1.0e-55	11
GCST003122_3	Hemoglobin levels	4.0e-86	11
GCST008398_13	Glycated hemoglobin (HbA1c)	3.0e-39	11
GCST000069_3	F-cell distribution	2.0e-38	11
GCST008034_18	Hemoglobin A1c levels	8.0e-27	11
GCST003122_7	Hemoglobin levels	1.0e-25	11
GCST004329_2	Mean corpuscular hemoglobin concentration	7.0e-24	11
GCST011346_59	Total cholesterol levels	5.0e-23	11
GCST004335_16	Mean corpuscular volume	1.0e-22	11
GCST011347_35	LDL cholesterol levels	6.0e-22	11
GCST000150_1	Fetal hemoglobin levels	2.0e-21	11
GCST008337_2	Blood cell traits	5.0e-20	11
GCST008333_1	Red cell distribution width	6.0e-17	11
GCST002033_3	Malaria	2.0e-16	11
GCST008972_7	Urate levels	5.0e-15	11
GCST001637_1	Malaria	6.0e-14	11
GCST001782_4	Mean corpuscular hemoglobin concentration	1.0e-13	11
GCST005356_14	Severe malaria	9.0e-13	11
GCST008746_23	eGFR in diabetes	7.0e-13	11
GCST008338_4	Blood cell traits	1.0e-12	11
GCST009681_7	Hemoglobin levels	2.0e-12	11
GCST003774_2	Urinary albumin-to-creatinine ratio	8.0e-12	11
GCST001710_2	HbA2 levels	1.0e-11	11
GCST001779_3	Hematology traits	5.0e-11	11
GCST010736_7	Urinary albumin-to-creatinine ratio	8.0e-11	11
GCST000410_3	Malaria	4.0e-11	11
GCST004330_1	Hematocrit	1.0e-10	11
GCST090002392_37	Mean corpuscular volume	1.0e-10	11

Category	Count
Gene Identifiers	5 major databases
Transcripts	7 total (1 MANE Select)
Exons (canonical)	3
UniProt Entries	5 (1 reviewed)
Protein Domains	5
PDB Structures	346
Cross-Species Orthologs	11
ClinVar Variants	1,706
AlphaMissense Predictions	957
SpliceAI Predictions	260
GO Terms	29
Reactome Pathways	10
STRING Interactions	2,490
IntAct Interactions	215
ESM2 Similar Proteins	67
DIAMOND Homologs	200+
TF Regulators	71
Disease Associations (GenCC)	25
Orphanet Diseases	29
HPO Phenotypes	139+
GWAS Associations	40
Single-Cell Experiments	15