Provide a comprehensive cross-database identifier and functional mapping reference for human MYH7. 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 MYH7. 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

MYH7 - Comprehensive Cross-Database Identifier and Functional Mapping Reference
Section 1: Gene Identifiers Primary Identifiers
DatabaseIdentifierSymbol/Name HGNCHGNC:7577MYH7 (Approved) EnsemblENSG00000092054MYH7 NCBI Entrez4625myosin heavy chain 7 OMIM160760MYH7 gene/locus Full Gene Name myosin heavy chain 7 (previously: myosin, heavy polypeptide 7, cardiac muscle, beta) Aliases & Previous Symbols Current aliases: CMD1S Previous symbols: CMH1, MPD1 Synonyms: CMYO7A, CMYO7B, CMYP7A, CMYP7B, …

Property	Value
Chromosome	14
Cytogenetic band	14q11.2
Start position	23,412,733 (GRCh38)
End position	23,436,137 (GRCh38)
Strand	Minus (-)
Genomic accession	NC_000014.9

Transcript ID	Biotype	Start	End	Strand
ENST00000355349 ★	protein_coding	23,412,740	23,435,660	-
ENST00000713768	protein_coding	23,412,740	23,435,660	-
ENST00000713769	protein_coding	23,412,740	23,435,660	-
ENST00000858539	protein_coding	23,412,740	23,435,718	-
ENST00000858540	protein_coding	23,412,738	23,435,660	-
ENST00000858541	protein_coding	23,412,740	23,435,661	-
ENST00000858542	protein_coding	23,412,740	23,435,660	-
ENST00000858543	protein_coding	23,412,740	23,435,660	-
ENST00000858544	protein_coding	23,412,742	23,435,661	-
ENST00000858545	protein_coding	23,412,742	23,435,661	-
ENST00000858546	protein_coding	23,412,742	23,435,661	-
ENST00000858547	protein_coding	23,412,742	23,435,660	-
ENST00000858548	protein_coding	23,412,742	23,435,660	-
ENST00000858549	protein_coding	23,412,740	23,435,617	-
ENST00000858550	protein_coding	23,412,740	23,435,389	-
ENST00000858551	protein_coding	23,412,742	23,433,814	-
ENST00000965935-ENST00000965959	protein_coding	Various	Various	-

Accession	Type	Status	MANE Select
NM_000257 ★	mRNA	REVIEWED	✓ Yes
NM_001407004	mRNA	REVIEWED	No

Accession	Status	MANE Select
NP_000248 ★	REVIEWED	✓ Yes
NP_001393933	REVIEWED	No

Exon ID	Start	End	Strand
ENSE00001910862	23,435,620	23,435,660	-
ENSE00002511061	23,433,532	23,433,740	-
ENSE00001333121	23,434,194	23,434,249	-
ENSE00000654043	23,433,084	23,433,227	-
ENSE00001647421	23,432,639	23,432,795	-
ENSE00000654040	23,432,479	23,432,506	-
ENSE00000654039	23,431,761	23,431,869	-
ENSE00001805709	23,431,585	23,431,677	-
ENSE00001610903	23,431,418	23,431,481	-
ENSE00001797612	23,430,901	23,430,999	-
ENSE00000654035	23,430,560	23,430,663	-
ENSE00001802826	23,429,775	23,429,913	-
ENSE00000654032	23,429,229	23,429,347	-
ENSE00000654031	23,428,955	23,429,104	-
ENSE00001747242	23,428,500	23,428,670	-
ENSE00000654029	23,427,585	23,427,894	-
ENSE00000654028	23,427,240	23,427,307	-
ENSE00001797702	23,426,777	23,426,864	-
ENSE00001643045	23,425,964	23,426,081	-
ENSE00001618128	23,425,695	23,425,818	-
ENSE00000654023	23,425,282	23,425,418	-
ENSE00000654022	23,424,769	23,425,024	-
ENSE00001625387	23,423,907	23,424,149	-
ENSE00001636102	23,423,547	23,423,723	-
ENSE00001767436	23,422,180	23,422,325	-
ENSE00000586050	23,420,958	23,421,048	-
ENSE00001776760	23,419,845	23,420,234	-
ENSE00000654015	23,419,483	23,419,609	-
ENSE00001711774	23,419,177	23,419,295	-
ENSE00001661625	23,418,210	23,418,406	-
ENSE00000654012	23,417,503	23,417,686	-
ENSE00001720186	23,417,153	23,417,318	-
ENSE00000654010	23,416,868	23,416,992	-
ENSE00001701082	23,416,004	23,416,312	-
ENSE00001690609	23,415,629	23,415,832	-
ENSE00001766234	23,415,381	23,415,506	-
ENSE00001758206	23,414,995	23,415,270	-
ENSE00001617095	23,414,007	23,414,102	-
ENSE00001666341	23,413,759	23,413,893	-
ENSE00004021211	23,412,740	23,412,871	-

MYH7 Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Symbol/Name
HGNC	HGNC:7577	MYH7 (Approved)
Ensembl	ENSG00000092054	MYH7
NCBI Entrez	4625	myosin heavy chain 7
OMIM	160760	MYH7 gene/locus

Accession	Status	Protein Name
P12883 ★	Reviewed (Swiss-Prot)	Myosin-7
A0AAQ5BGU7	Unreviewed (TrEMBL)	Myosin-7

Property	Value
Protein name	Myosin-7
Alternative names	Myosin heavy chain 7, Myosin heavy chain slow isoform, Myosin heavy chain cardiac muscle beta isoform
Sequence length	1,935 amino acids
Molecular mass	223,097 Da

ID	Name	Type
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002928	Myosin_tail	Domain
IPR004009	SH3_Myosin	Domain
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR008989	Myosin_S1_N	Homologous_superfamily
IPR014751	XRCC4-like_C	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

PDB ID	Title	Method	Resolution
9I8P	Human beta-cardiac myosin wild type motor domain (pre-powerstroke state)	X-RAY	2.60 Å
9HTG	Beta-cardiac myosin E497D mutant motor domain	X-RAY	2.60 Å
9HTF	Beta-cardiac myosin Y115H mutant motor domain	X-RAY	2.48 Å
9GZ2	Beta-cardiac heavy meromyosin motor domain complexed to mavacamten (primed state)	CRYO-EM	2.90 Å
9GZ1	Beta-cardiac myosin interacting heads motif complexed to mavacamten	CRYO-EM	3.70 Å
9GZ3	Beta-cardiac heavy meromyosin motor domain (primed state)	CRYO-EM	3.40 Å
8ZI9	Human left ventricle actin and myosin complex	CRYO-EM	3.08 Å
8ZB7	Human left ventricle ATM complex	CRYO-EM	3.19 Å
8G4L	Cryo-EM structure of human cardiac myosin filament	CRYO-EM	6.40 Å
8EFI	Human cardiac actin-tropomyosin-myosin complex (rigor form)	CRYO-EM	3.40 Å
8EFH	Human cardiac actin-tropomyosin-myosin complex with ADP-Mg2+	CRYO-EM	3.30 Å
8EFE	Human beta-cardiac myosin II bound to ADP-MG2+	CRYO-EM	3.80 Å
8EFD	Human cardiac myosin II in rigor conformation	CRYO-EM	3.80 Å
8ENC	Human cardiac actin-tropomyosin-myosin loop 4 7G mutant	CRYO-EM	3.60 Å
8ACT	Human beta-cardiac myosin folded-back off state	CRYO-EM	3.60 Å
4PA0	Omecamtiv Mercarbil binding site on Human Beta-Cardiac Myosin	X-RAY	2.25 Å
4P7H	Human beta-Cardiac Myosin Motor Domain::GFP chimera	X-RAY	3.20 Å
4DB1	Cardiac human myosin S1dC complexed with Mn-AMPPNP	X-RAY	2.60 Å
2FXO	Human beta-myosin S2 fragment	X-RAY	2.50 Å
2FXM	Human beta-myosin S2 fragment	X-RAY	2.70 Å
5CJ1	Coiled coil of MYH7 residues 1526-1571 fused to Gp7	X-RAY	2.10 Å
5CHX	MYH7 amino acids 1590-1657	X-RAY	2.30 Å
5CJ0	MYH7 amino acids 1631-1692	X-RAY	2.30 Å
5WME	MYH7 amino acids 1729-1786	X-RAY	2.30 Å
6PF2	MYH7 amino acids 1220-1276	X-RAY	2.17 Å
6PFP	MYH7 amino acids 1473-1536	X-RAY	2.20 Å
4XA1	Coiled-coil surrounding Skip 1	X-RAY	3.20 Å
4XA3	Coiled-coil surrounding Skip 2	X-RAY	2.55 Å
4XA4	Coiled-coil surrounding Skip 3	X-RAY	2.33 Å
4XA6	Coiled-coil surrounding Skip 4	X-RAY	3.42 Å
5WJ7	MYH7 amino acids 1733-1797 fused to Xrcc4	X-RAY	2.50 Å
5WJB	MYH7 amino acids 1733-1797 fused to Gp7	X-RAY	2.91 Å
5WLQ	MYH7 amino acids 1677-1755 fused to Gp7 and Eb1	X-RAY	3.10 Å
5WLZ	MYH7 amino acids 1677-1758 fused to Xrcc4	X-RAY	3.50 Å
5CJ4	MYH7 amino acids 1562-1622	X-RAY	3.10 Å
3DTP	Tarantula heavy meromyosin (flexible docking)	CRYO-EM	20.0 Å
5TBY	Human beta-cardiac heavy meromyosin interacting-heads motif	CRYO-EM	20.0 Å

Organism	Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000053093	Myh7	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000016983	Myh7	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000079782	myh7l	protein_coding
Fruit fly (Drosophila)	No direct ortholog	-	-
Worm (C. elegans)	No direct ortholog	-	-
Yeast (S. cerevisiae)	No direct ortholog	-	-

Classification	Count
Pathogenic	76
Likely Pathogenic	100+
Uncertain Significance (VUS)	~3,500+
Likely Benign	Multiple
Benign	Multiple

ClinVar ID	HGVS Notation	Condition	Review Status
14087	c.1208G>A (p.Arg403Gln)	HCM	Expert panel
14089	c.1357C>T (p.Arg453Cys)	HCM	Expert panel
14090	c.1750G>C (p.Gly584Arg)	HCM	Expert panel
14095	c.2167C>T (p.Arg723Cys)	HCM	Expert panel
14097	c.2722C>G (p.Leu908Val)	HCM	Expert panel
14098	c.2221G>C (p.Gly741Arg)	HCM	Expert panel
14099	c.767G>A (p.Gly256Glu)	HCM	Multiple submitters
14101	c.1208G>T (p.Arg403Leu)	HCM	Multiple submitters
14102	c.1207C>T (p.Arg403Trp)	HCM	Expert panel
14104	c.2155C>T (p.Arg719Trp)	HCM	Expert panel
14105	c.2146G>A (p.Gly716Arg)	HCM	Expert panel
14107	c.2156G>A (p.Arg719Gln)	HCM	Expert panel
14108	c.1594T>C (p.Ser532Pro)	HCM	Expert panel
14125	c.2717A>G (p.Asp906Gly)	HCM	Expert panel
14129	c.1357C>A (p.Arg453Ser)	HCM	Expert panel
42838	c.1358G>A (p.Arg453His)	HCM	Expert panel
42875	c.1988G>A (p.Arg663His)	HCM	Expert panel
42885	c.2167C>G (p.Arg723Gly)	HCM	Expert panel
42922	c.2681A>G (p.Glu894Gly)	HCM	Expert panel
42926	c.2711G>A (p.Arg904His)	HCM	Expert panel
42992	c.4130C>T (p.Thr1377Met)	DCM/HCM	Expert panel
43106	c.788T>C (p.Ile263Thr)	HCM	Expert panel
155814	c.3158G>A (p.Arg1053Gln)	HCM	Expert panel
164294	c.4066G>A (p.Glu1356Lys)	DCM	Expert panel
164316	c.2710C>T (p.Arg904Cys)	HCM	Expert panel
164342	c.2207T>C (p.Ile736Thr)	HCM	Expert panel
164401	c.427C>T (p.Arg143Trp)	HCM	Expert panel
177626	c.1954A>G (p.Arg652Gly)	HCM	Multiple submitters
177665	c.2221G>T (p.Gly741Trp)	HCM	Expert panel
132914	c.2163-1G>A	HCM	Single submitter
1071112	c.732+1G>T	HCM	Single submitter
132917	c.2028del (p.Asn676fs)	HCM	No criteria
132920	c.1956+2T>G	HCM	No criteria
132926	c.1530C>A (p.Phe510Leu)	HCM	No criteria
132930	c.1151C>A (p.Ser384Tyr)	HCM	No criteria
132933	c.1073A>T (p.His358Leu)	HCM	No criteria
14091	c.1816G>A (p.Val606Met)	HCM	Multiple submitters
14106	c.2803G>A (p.Glu935Lys)	HCM	Single submitter
42933	c.2788G>A (p.Glu930Lys)	HCM	Multiple submitters
181319	c.730T>C (p.Phe244Leu)	HCM	Single submitter
181340	c.1234A>T (p.Thr412Ser)	HCM	Single submitter
181345	c.1400T>C (p.Ile467Thr)	HCM	Single submitter
237444	c.761C>A (p.Ala254Glu)	HCM	Single submitter
407187	c.1544T>G (p.Met515Arg)	HCM	Single submitter
429741	c.1810A>G (p.Thr604Ala)	HCM	Single submitter
454395	c.732+2T>G	HCM	Single submitter
524975	c.1159C>T (p.Leu387Phe)	HCM	Single submitter
574861	c.1801C>T (p.Leu601Phe)	HCM	Single submitter
619177	c.1963C>A (p.Leu655Met)	HCM	Single submitter
656014	c.1711G>C (p.Gly571Arg)	HCM	Single submitter

Variant	Effect	Delta Score
14:23413754:CCCA:C	donor_loss	1.00
14:23413755:CCACC:C	donor_loss	1.00
14:23413756:CACC:C	donor_loss	1.00
14:23413757:ACC:A	donor_loss	1.00
14:23413758:CCTT:C	donor_gain	1.00
14:23414005:A:AG	donor_loss	1.00
14:23414005:ACCGC:A	donor_gain	1.00
14:23414006:CCG:C	donor_gain	1.00
14:23414006:CCGC:C	donor_gain	1.00
14:23414006:C:CC	donor_gain	1.00
14:23413889:TCCTC:T	acceptor_gain	1.00
14:23413891:CTC:C	acceptor_gain	1.00
14:23413892:TC:T	acceptor_gain	1.00
14:23413893:CC:C	acceptor_gain	1.00
14:23413894:C:CC	acceptor_gain	1.00
14:23414989:TCGCA:T	donor_loss	1.00
14:23414990:CGCA:C	donor_loss	1.00
14:23414991:GCAC:G	donor_loss	1.00
14:23414992:CA:C	donor_loss	1.00

Variant	Protein Change	AM Score	Classification
14:23413812:C:G	A1913P	0.999	Likely Pathogenic
14:23413821:C:G	A1910P	0.999	Likely Pathogenic
14:23413833:C:G	A1906P	0.999	Likely Pathogenic
14:23413787:C:G	R1921P	0.991	Likely Pathogenic
14:23413806:A:G	S1915P	0.990	Likely Pathogenic
14:23413790:A:G	L1920P	0.989	Likely Pathogenic
14:23413841:A:G	L1903P	0.997	Likely Pathogenic
14:23413823:C:G	R1909P	0.998	Likely Pathogenic
14:23413775:C:G	R1925P	0.977	Likely Pathogenic
14:23413776:G:T	R1925S	0.975	Likely Pathogenic
14:23413794:T:C	K1919E	0.975	Likely Pathogenic
14:23413811:G:T	A1913D	0.994	Likely Pathogenic
14:23413820:G:T	A1910E	0.970	Likely Pathogenic
14:23413832:G:T	A1906E	0.953	Likely Pathogenic
14:23413777:G:C	S1924R	0.953	Likely Pathogenic
14:23413780:C:A	K1923N	0.947	Likely Pathogenic
14:23413785:C:G	A1922P	0.941	Likely Pathogenic
14:23413788:G:C	R1921G	0.933	Likely Pathogenic
14:23413795:G:C	N1918K	0.931	Likely Pathogenic
14:23413824:G:A	R1909W	0.930	Likely Pathogenic
14:23413784:G:T	A1922D	0.925	Likely Pathogenic
14:23413808:T:A	E1914V	0.919	Likely Pathogenic
14:23413793:T:A	K1919M	0.912	Likely Pathogenic
14:23413793:T:G	K1919T	0.910	Likely Pathogenic
14:23413809:C:T	E1914K	0.907	Likely Pathogenic
14:23413775:C:A	R1925L	0.900	Likely Pathogenic

GO ID	Term Name
GO:0002026	regulation of the force of heart contraction
GO:0002027	regulation of heart rate
GO:0003009	skeletal muscle contraction
GO:0006936	muscle contraction
GO:0006941	striated muscle contraction
GO:0007512	adult heart development
GO:0014728	regulation of the force of skeletal muscle contraction
GO:0014883	transition between fast and slow fiber
GO:0014898	cardiac muscle hypertrophy in response to stress
GO:0030049	muscle filament sliding
GO:0031449	regulation of slow-twitch skeletal muscle fiber contraction
GO:0046034	ATP metabolic process
GO:0055010	ventricular cardiac muscle tissue morphogenesis
GO:0060048	cardiac muscle contraction

GO ID	Term Name
GO:0000146	microfilament motor activity
GO:0005516	calmodulin binding
GO:0005524	ATP binding
GO:0051015	actin filament binding

GO ID	Term Name
GO:0001725	stress fiber
GO:0005737	cytoplasm
GO:0005859	muscle myosin complex
GO:0016459	myosin complex
GO:0016460	myosin II complex
GO:0030016	myofibril
GO:0030017	sarcomere
GO:0030018	Z disc
GO:0032982	myosin filament

UniProt	Gene	Score
Q14896	MYBPC3	976
P08590	MYL3	957
P45379	TNNT2	957
P10916	MYL2	936
P04270	S100B	935
P19429	TNNI3	931
Q8WZ42	TTN	919
P09493	TPM1	908
O15273	TELETHONIN	907
P01160	NPPA	834
P13805	TNNC1	832
P35609	ACTN2	831
P50461	CSRP3	831
P19237	TNNI1	817
O75112	LDB3	805
Q5T481	MYOM2	791
Q9UGJ0	ANKYRIN-REPEAT	773
O95393	BIN1	769
Q92736	RYR2	768
P16860	NPPB	756
Q9UIF7	SYNCAP1	747
Q01449	CLCN1	727
Q14126	DSG2	721
P11783	CBX3	701
Q14524	SCN5A	695
P02545	LMNA	692
P02568	ACTA1	687

UniProt	Top Similarity	Avg Similarity
P11055 (MYH3)	1.0000	0.9970
P12847 (MYH3)	1.0000	0.9971
P35579 (MYH9)	1.0000	0.9921
P35580 (MYH10)	1.0000	0.9878
P02563 (MYH6)	0.9999	0.9972
P02564 (MYH6)	0.9999	0.9973
P13533 (MYH6)	0.9997	0.9972
P49824 (MYH7B)	0.9998	0.9975
G3UW82	0.9998	0.9971
O08638	0.9998	0.9934

UniProt	Top Identity	Top Bitscore
P12847 (MYH3)	99.4%	2081
P02564 (MYH6)	99.1%	2091
P35579 (MYH9)	99.3%	2001
P02563 (MYH6)	97.8%	2117
P13533 (MYH6)	97.0%	2056
P13541 (MYH8)	99.4%	2082
P11055 (MYH3)	98.3%	2033
P12882 (MYH1)	95.9%	2048

TF Gene	Regulation	Confidence
MYOD1	Activation	High
MEF2C	-	High
MEF2D	Activation	Low
GATA4	-	High
GATA5	-	High
NKX2-5	-	Low
SOX6	Repression	High
SRF	Unknown	-
TEAD1	Unknown	High
TEAD4	Activation	-
NFATC1	Activation	Low
NFATC4	-	High
SMAD1	-	Low
SMAD4	Repression	-
TCF12	-	High
SP3	-	High
BCL11B	-	High
EDN1	Activation	-
EZH2	-	High
FOXP1	-	High
HESX1	-	High
LIF	Activation	-
NR2C2	-	Low
TEF	-	Low
THRA	-	Low
THRB	-	High

Regulator	Target	Effect	Mechanism
EDN1	MYH7	Up-regulates	Transcriptional regulation
NFATC1	Myh7	Up-regulates	Transcriptional regulation
MEF2D	Myh7	Up-regulates	Transcriptional regulation
MYOD1	Myh7	Up-regulates	Transcriptional regulation
LIF	Myh7	Up-regulates	Transcriptional regulation

Property	Value
ChEMBL ID	CHEMBL4297517
PubChem CID	117761397
Development Phase	4 (Approved)
Type	Small molecule
ATC Classification	C01EB24
Trade names	Camzyos, Mavacamten, MYK-461, SAR-439152
Mechanism	Cardiac myosin inhibitor

Trial ID	Phase	Status	Title
NCT03470545	Phase 3	COMPLETED	EXPLORER-HCM: Adults with Symptomatic Obstructive HCM
NCT04349072	Phase 3	COMPLETED	VALOR-HCM: Eligible for Septal Reduction Therapy
NCT05582395	Phase 3	COMPLETED	Non-Obstructive HCM
NCT05174416	Phase 3	COMPLETED	Chinese Adults with Symptomatic Obstructive HCM
NCT05414175	Phase 3	COMPLETED	Obstructive HCM
NCT03723655	Phase 2/3	COMPLETED	Long-Term Safety Extension (MAVA-LTE)
NCT06252221	Phase 3	ACTIVE	Adolescents with Symptomatic Obstructive HCM
NCT06111743	Phase 4	ACTIVE	Impact on Myocardial Structure in Obstructive HCM
NCT07004972	Phase 4	RECRUITING	ROVER - Adults in India with Obstructive HCM
NCT02842242	Phase 2	COMPLETED	PIONEER-HCM
NCT03442764	Phase 2	COMPLETED	MAVERICK-HCM (Non-Obstructive)
NCT04766892	Phase 2	COMPLETED	HFpEF with Elevation of NT-proBNP
NCT02329184	Phase 1	COMPLETED	Safety, Tolerability, PK/PD
NCT02356289	Phase 1	COMPLETED	Single Ascending Dose
NCT02480296	Phase 1	COMPLETED	Multiple Ascending Dose

Property	Value
PharmGKB ID	PA31374
VIP Gene	Yes (Very Important Pharmacogene)
CPIC Guideline	No

Property	Value
Expression breadth	Ubiquitous
Total present calls	167
Total conditions tested	288
Max expression score	99.94
Average expression score	65.11
Gold quality annotations	261

Tissue	Ontology ID	Expression Score	Quality
Apex of heart	UBERON:0002098	99.94	Gold
Hindlimb stylopod muscle	UBERON:0004252	99.89	Gold
Skeletal muscle of biceps brachii	UBERON:0004502	99.82	Silver
Biceps brachii	UBERON:0001507	99.69	Silver
Gastrocnemius	UBERON:0001388	99.69	Gold
Heart right ventricle	UBERON:0002080	99.64	Gold
Heart left ventricle	UBERON:0002084	99.62	Gold
Cardiac ventricle	UBERON:0002082	99.62	Gold
Gluteal muscle	UBERON:0002000	99.60	Gold
Triceps brachii	UBERON:0001509	99.48	Gold
Left ventricle myocardium	UBERON:0006566	99.45	Gold
Skeletal muscle tissue	UBERON:0001134	99.39	Gold
Vastus lateralis	UBERON:0001379	99.38	Gold
Skeletal muscle of rectus abdominis	UBERON:0004511	99.37	Silver
Quadriceps femoris	UBERON:0001377	99.23	Gold
Right atrium auricular region	UBERON:0006631	99.16	Gold
Cardiac atrium	UBERON:0002081	99.12	Gold
Myocardium	UBERON:0002349	99.06	Silver
Diaphragm	UBERON:0001103	98.83	Silver
Deltoid	UBERON:0001476	98.80	Silver
Tibialis anterior	UBERON:0001385	98.60	Gold
Cardiac muscle of right atrium	UBERON:0003379	98.60	Silver
Muscle organ	UBERON:0001630	98.11	Gold
Muscle of leg	UBERON:0001383	97.63	Gold
Body of tongue	UBERON:0011876	96.68	Silver
Heart	UBERON:0000948	95.57	Gold
Muscle tissue	UBERON:0002385	94.18	Gold
Primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.67	Gold
Tongue	UBERON:0001723	85.49	Silver
Body of pancreas	UBERON:0001150	81.93	Gold

Disease	OMIM	Classification	Inheritance	Submitter
Hypertrophic cardiomyopathy 1	192600	Definitive	AD	Ambry, G2P
Hypertrophic cardiomyopathy 1	192600	Strong	AD	Invitae
Dilated cardiomyopathy 1S	613426	Definitive	AD	G2P
Dilated cardiomyopathy 1S	613426	Strong	AD	Ambry, Invitae
MYH7-related skeletal myopathy	160500	Strong	AD	Ambry, Invitae
Myopathy, myosin storage (AD)	608358	Moderate	AD	Ambry
Myopathy, myosin storage (AR)	255160	Strong	AR	Invitae
Myopathy, myosin storage (AR)	255160	Moderate	AR	Ambry

Orphanet ID	Disease Name	Type
154	Familial isolated dilated cardiomyopathy	Disease
1880	Ebstein malformation of the tricuspid valve	Morphological anomaly
324604	Classic multiminicore myopathy	Clinical subtype
54260	Left ventricular noncompaction	Disease
59135	Laing distal myopathy	Disease
636965	Autosomal dominant myosin storage myopathy	Clinical subtype
636970	Autosomal recessive myosin storage myopathy	Clinical subtype

HPO ID	Phenotype
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001635	Congestive heart failure
HP:0001670	Asymmetric septal hypertrophy
HP:0030682	Left ventricular noncompaction
HP:0012664	Reduced left ventricular ejection fraction
HP:0001634	Mitral valve prolapse
HP:0001653	Mitral regurgitation
HP:0005110	Atrial fibrillation
HP:0011675	Arrhythmia
HP:0004756	Ventricular tachycardia
HP:0004308	Ventricular arrhythmia
HP:0002875	Exertional dyspnea
HP:0001962	Palpitations
HP:0100749	Chest pain
HP:0001667	Right ventricular hypertrophy
HP:0200128	Biventricular hypertrophy
HP:0001682	Subvalvular aortic stenosis
HP:0003198	Myopathy
HP:0003560	Muscular dystrophy
HP:0003323	Progressive muscle weakness
HP:0003701	Proximal muscle weakness
HP:0002460	Distal muscle weakness
HP:0003325	Limb-girdle muscle weakness
HP:0003547	Shoulder girdle muscle weakness
HP:0003749	Pelvic girdle muscle weakness
HP:0003691	Scapular winging
HP:0003236	Elevated circulating creatine kinase concentration
HP:0001288	Gait disturbance
HP:0002515	Waddling gait
HP:0003551	Difficulty climbing stairs
HP:0002505	Loss of ambulation
HP:0001290	Generalized hypotonia
HP:0002093	Respiratory insufficiency
HP:0002650	Scoliosis
HP:0010316	Ebstein anomaly of the tricuspid valve
HP:0001699	Sudden death
HP:0001631	Atrial septal defect
HP:0001658	Myocardial infarction
HP:0002094	Dyspnea
HP:0012378	Fatigue
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0003593	Infantile onset
HP:0011463	Childhood onset
HP:0003621	Juvenile onset
HP:0003581	Adult onset
HP:0100295	Muscle fiber atrophy
HP:0100306	Muscle fiber hyaline bodies

Study ID	Trait	P-value
GCST003818_29	Resting heart rate	2×10⁻¹⁰⁰
GCST006061_227	Atrial fibrillation	7×10⁻¹⁵
GCST006061_226	Atrial fibrillation	4×10⁻¹⁴
GCST006414_19	Atrial fibrillation	4×10⁻¹⁰
GCST000731_9	Resting heart rate	3×10⁻⁸

Category	Count
Gene identifiers	4 primary databases
Ensembl transcripts	41
RefSeq transcripts (human)	2 reviewed
CCDS IDs	1
Exons (canonical)	40
UniProt accessions	2
Protein length	1,935 aa
Protein domains	8
PDB structures	37
Cross-species orthologs	3
ClinVar variants	4,107
Pathogenic variants	76
Likely pathogenic variants	100+
SpliceAI predictions	4,030
AlphaMissense predictions	12,850
GO terms	27
STRING interactions	2,542+
IntAct interactions	86
BioGRID interactions	116+
ESM2 similar proteins	77
DIAMOND homologs	136
Transcriptional regulators	26
MSigDB gene sets	432
Approved drugs	1 (Mavacamten)
Clinical trials	36
GenCC disease associations	17
Orphanet disorders	7
HPO phenotypes	151
GWAS associations	5
Expression conditions	288