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

Now let me compile all the gathered data into a comprehensive reference document.
MTOR Gene: Comprehensive Cross-Database Identifier and Functional Mapping Reference Gene: MTOR (mechanistic target of rapamycin kinase) Organism: Homo sapiens (Human) Generated: 2026-03-27
Section 1: Gene Identifiers Primary Gene Identifiers
DatabaseIdentifierDetails HGNCHGNC:3942Approved symbol: MTOR Ensembl GeneENSG00000198793protein_coding NCBI Entrez Gene2475- OMIM Gene601231Gene/Locus MIM CCDSCCDS127Consensus …

Type	Values
Approved Name	mechanistic target of rapamycin kinase
Previous Names	FK506 binding protein 12-rapamycin associated protein 1; mechanistic target of rapamycin (serine/threonine kinase)
Previous Symbols	FRAP, FRAP1, FRAP2
Aliases	mTOR, RAFT1, RAPT1, FLJ44809, SKS
Locus Group	protein-coding gene
Status	Approved

Property	Value
Chromosome	1
Cytogenetic Band	1p36.22
Start Position	11,106,531 (GRCh38)
End Position	11,262,556 (GRCh38)
Strand	Minus (-)
Genomic Accession	NC_000001.11
Gene Length	~156 kb

Transcript ID	Biotype	Start	End	Notes
ENST00000361445	protein_coding	11,106,535	11,262,551	Canonical transcript
ENST00000703140	protein_coding	11,106,535	11,262,530	-
ENST00000703143	protein_coding	11,106,535	11,262,536	-
ENST00000875524	protein_coding	11,106,535	11,262,539	-
ENST00000875525	protein_coding	11,106,535	11,262,517	-
ENST00000934310	protein_coding	11,106,531	11,262,540	-
ENST00000934311	protein_coding	11,106,535	11,262,538	-
ENST00000934312	protein_coding	11,106,539	11,262,535	-
ENST00000934313	protein_coding	11,106,537	11,262,531	-
ENST00000934314	protein_coding	11,106,539	11,262,514	-
ENST00000934315	protein_coding	11,106,537	11,262,506	-
ENST00000703132	protein_coding_CDS_not_defined	11,225,472	11,259,390	-
ENST00000703144	protein_coding_CDS_not_defined	11,245,127	11,247,904	-
ENST00000703118	nonsense_mediated_decay	11,106,590	11,262,514	-
ENST00000703139	nonsense_mediated_decay	11,106,535	11,262,551	-
ENST00000703141	nonsense_mediated_decay	11,106,537	11,262,528	-
ENST00000703142	nonsense_mediated_decay	11,106,558	11,262,556	-
ENST00000376838	retained_intron	11,106,535	11,131,558	-
ENST00000455339	retained_intron	11,109,303	11,115,663	-
ENST00000473471	retained_intron	11,107,285	11,114,629	-
ENST00000476768	retained_intron	11,138,954	11,139,660	-
ENST00000490931	retained_intron	11,107,307	11,115,527	-
ENST00000495435	retained_intron	11,131,594	11,145,025	-
ENST00000703131	retained_intron	11,106,860	11,193,730	-

RefSeq ID	Type	Status	MANE Select
NM_004958	mRNA	REVIEWED	✓ Yes (Canonical)
NM_001386500	mRNA	REVIEWED	No
NM_001386501	mRNA	REVIEWED	No
NP_004949	protein	REVIEWED	✓ Yes (Canonical)
NP_001373429	protein	REVIEWED	No
NP_001373430	protein	REVIEWED	No

Exon ID	Start	End	Length
ENSE00001471842	11,262,445	11,262,551	107 bp
ENSE00003988097	11,259,248	11,259,423	176 bp
ENSE00003988108	11,258,485	11,258,593	109 bp
ENSE00003988131	11,256,933	11,257,165	233 bp
ENSE00003988142	11,255,992	11,256,192	201 bp
ENSE00003988147	11,253,839	11,253,973	135 bp
ENSE00003988093	11,247,819	11,248,094	276 bp
ENSE00000743810	11,247,625	11,247,733	109 bp
ENSE00000743807	11,243,114	11,243,300	187 bp
ENSE00000743805	11,241,553	11,241,681	129 bp
...	...	...	...
ENSE00003988098	11,106,535	11,107,500	966 bp

MTOR Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Details
HGNC	HGNC:3942	Approved symbol: MTOR
Ensembl Gene	ENSG00000198793	protein_coding
NCBI Entrez Gene	2475	-
OMIM Gene	601231	Gene/Locus MIM
CCDS	CCDS127	Consensus CDS

RefSeq Protein	Notes
NP_004949	✓ MANE Select (Canonical)
NP_001373429	Isoform
NP_001373430	Isoform

InterPro ID	Short Name	Type
IPR000403	PI3/4_kinase_cat_dom	Domain
IPR003151	PIK-rel_kinase_FAT	Domain
IPR003152	FATC_dom	Domain
IPR009076	FRB_dom	Domain
IPR014009	PIK_FAT	Domain
IPR024585	mTOR_dom	Domain
IPR026683	TOR_cat	Domain
IPR057564	HEAT_ATR	Domain
IPR018936	PI3/4_kinase_CS	Conserved_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR011989	ARM-like	Homologous_superfamily
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR036738	FRB_sf	Homologous_superfamily
IPR036940	PI3/4_kinase_cat_sf	Homologous_superfamily
IPR050517	DDR_Repair_Kinase	Family

Ensembl Gene	Symbol	Biotype
ENSG00000149311	ATM	protein_coding
ENSG00000157106	SMG1	protein_coding
ENSG00000175054	ATR	protein_coding
ENSG00000196367	TRRAP	protein_coding
ENSG00000253729	PRKDC	protein_coding

PDB ID	Method	Resolution	Title
1AUE	X-RAY	2.33 Å	FKBP-RAPAMYCIN BINDING DOMAIN (FRB)
1FAP	X-RAY	2.7 Å	FKBP12-RAPAMYCIN-FRAP complex
1NSG	X-RAY	2.2 Å	FKBP12-RAPAMYCIN-FRAP complex
2FAP	X-RAY	2.2 Å	FKBP12-C16-ETHOXY RAPAMYCIN-FRAP
2GAQ	NMR	-	NMR structure of FRB domain
2NPU	NMR	-	FRB domain solution structure
3FAP	X-RAY	1.85 Å	Rapamycin analogs-FKBP12-FRB
4DRI	X-RAY	1.45 Å	FKBP51-Rapamycin-FRB (highest res)
4JSN	X-RAY	3.2 Å	mTORdeltaN-mLST8 complex
4JSP	X-RAY	3.3 Å	mTOR-mLST8-ATPgammaS-Mg
5FLC	Cryo-EM	5.9 Å	mTORC1 architecture
5H64	Cryo-EM	4.4 Å	Cryo-EM structure of mTORC1
6BCU	Cryo-EM	3.8 Å	RHEB-mTORC1 activated
6BCX	Cryo-EM	3.23 Å	mTORC1 (high resolution)
6ZWM	Cryo-EM	3.2 Å	mTORC2 overall
6ZWO	Cryo-EM	3.0 Å	mTORC2 focused
7PE7	Cryo-EM	3.41 Å	DEPTOR-mTORC2
8ERA	Cryo-EM	2.86 Å	RMC-5552-mTORC1-FKBP12
9ED7	Cryo-EM	3.16 Å	Active mTOR on membrane

Property	Value
AlphaFold ID	P42345
Global pLDDT Score	78.57
Sequence Length	20,287
Fraction Very High Confidence	0.11 (11%)

Organism	Ensembl Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000028991	Mtor	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000009615	Mtor	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000053196	mtor	protein_coding
Fruit fly (Drosophila melanogaster)	FBGN0021796	mTor	protein_coding
Worm (C. elegans)	No direct ortholog	-	TOR pathway present
Yeast (S. cerevisiae)	TOR1/TOR2	TOR1, TOR2	Two TOR genes

Classification	Count
Pathogenic	23
Likely Pathogenic	27
Uncertain Significance (VUS)	~2,400+
Likely Benign	250+
Benign	200+

ClinVar ID	HGVS Notation	Protein Change	Review Status
156702	c.5930C>A	p.Thr1977Lys	Expert panel
156703	c.6644C>T	p.Ser2215Phe	Expert panel
1296989	c.5930C>G	p.Thr1977Arg	Expert panel
376129	c.6644C>A	p.Ser2215Tyr	Expert panel
376130	c.4379T>C	p.Leu1460Pro	Expert panel
376453	c.4448G>A	p.Cys1483Tyr	Expert panel
374796	c.4447T>C	p.Cys1483Arg	Expert panel
417723	c.7280T>C	p.Leu2427Pro	Expert panel
156709	c.7255G>A	p.Glu2419Lys	Multiple submitters
217823	c.5395G>A	p.Glu1799Lys	Multiple submitters
242349	c.6981G>A	p.Met2327Ile	Multiple submitters
520633	c.7238G>T	p.Ser2413Ile	Multiple submitters
584432	c.5930C>T	p.Thr1977Ile	Multiple submitters
190121	c.4448G>T	p.Cys1483Phe	Single submitter
224088	c.4785G>A	p.Met1595Ile	Single submitter
2579952	c.4184A>G	p.Lys1395Arg	Single submitter
2672094	c.4376C>A	p.Ala1459Asp	Single submitter
3774491	c.4348T>G	p.Tyr1450Asp	Single submitter
4056380	c.7289G>C	p.Arg2430Thr	Single submitter
981176	c.7501A>T	p.Ile2501Phe	Single submitter
1339561	c.257del	p.Gly86fs	No criteria
417724	c.7280T>A	p.Leu2427Gln	No criteria
417727	c.4366T>G	p.Trp1456Gly	No criteria

ClinVar ID	HGVS Notation	Protein Change	Review Status
1296993	c.4468T>C	p.Trp1490Arg	Expert panel
1296997	c.5005G>T	p.Ala1669Ser	Expert panel
1213694	c.1816T>C	p.Cys606Arg	Single submitter
1310128	c.5380G>A	p.Ala1794Thr	Single submitter
1315046	c.7076G>A	p.Gly2359Glu	Single submitter
1320130	c.5912C>T	p.Ala1971Val	Single submitter
1685378	c.4298T>C	p.Leu1433Ser	Single submitter
2129739	c.5664C>A	p.Phe1888Leu	Single submitter
2672097	c.5662T>C	p.Phe1888Leu	Multiple submitters
3399624	c.4250T>C	p.Ile1417Thr	Single submitter
3731617	c.5408A>C	p.His1803Pro	Single submitter
376455	c.7500T>G	p.Ile2500Met	Single submitter
3764881	c.5917A>T	p.Ile1973Phe	Single submitter
3765844	c.7535A>G	p.Asp2512Gly	Single submitter
3771641	c.4550C>T	p.Ala1517Val	Single submitter
391346	c.7292T>C	p.Leu2431Pro	Single submitter
4279701	c.6306C>A	p.Asp2102Glu	Single submitter
4293751	c.4961T>C	p.Leu1654Pro	Single submitter
451914	c.6643T>C	p.Ser2215Pro	Single submitter
4537408	c.6659T>C	p.Leu2220Pro	Single submitter

Variant	Effect	Delta Score
1:11108177:TCACC>T	donor_loss	1.00
1:11108179:A>C	donor_loss	1.00
1:11108179:AC>A	donor_gain	1.00
1:11108179:ACCAG>A	donor_gain	1.00
1:11108180:C>CG	donor_gain	1.00
1:11108180:CC>C	donor_gain	1.00
1:11107500:CCTAA>C	acceptor_loss	0.99
1:11107501:C>CA	acceptor_loss	0.99
1:11107510:C>CT	acceptor_gain	0.99
1:11107511:A>T	acceptor_gain	0.99
1:11107107:CCA>C	acceptor_gain	0.98
1:11107498:CAC>C	acceptor_gain	0.98
1:11107501:C>CC	acceptor_gain	0.98
1:11108175:A>AC	donor_gain	0.93
1:11108176:C>CC	donor_gain	0.93
1:11107497:GCAC>G	acceptor_gain	0.91
1:11107498:CACC>C	acceptor_gain	0.91
1:11107499:AC>A	acceptor_gain	0.90
1:11107500:CC>C	acceptor_gain	0.90

Variant	Protein Change	Pathogenicity Score	Class
1:11107491:G>C	F2548L	1.000	likely_pathogenic
1:11107491:G>T	F2548L	1.000	likely_pathogenic
1:11108198:G>C	C2539W	1.000	likely_pathogenic
1:11108200:A>G	C2539R	1.000	likely_pathogenic
1:11108199:C>T	C2539Y	1.000	likely_pathogenic
1:11107500:C>A	W2545C	1.000	likely_pathogenic
1:11108182:A>G	W2545R	1.000	likely_pathogenic
1:11108202:A>G	L2538P	1.000	likely_pathogenic
1:11107488:C>A	W2549C	0.999	likely_pathogenic
1:11107488:C>G	W2549C	0.999	likely_pathogenic
1:11107490:A>G	W2549R	0.999	likely_pathogenic
1:11107184:C>T	G2544D	0.999	likely_pathogenic
1:11107185:C>G	G2544R	0.999	likely_pathogenic
1:11108185:C>T	C2541Y	0.998	likely_pathogenic
1:11108194:A>G	C2541R	0.998	likely_pathogenic
1:11108184:C>A	G2544V	0.998	likely_pathogenic
1:11108199:C>A	C2539F	0.998	likely_pathogenic
1:11108202:A>T	L2538H	0.998	likely_pathogenic
1:11108204:G>C	N2537K	0.998	likely_pathogenic
...	...	...	...

Pathway ID	Pathway Name	Disease?
R-HSA-165159	MTOR signalling	No
R-HSA-166208	mTORC1-mediated signalling	No
R-HSA-380972	Energy dependent regulation of mTOR by LKB1-AMPK	No
R-HSA-9639288	Amino acids regulate mTORC1	No
R-HSA-1257604	PIP3 activates AKT signaling	No
R-HSA-1632852	Macroautophagy	No
R-HSA-9612973	Autophagy	No
R-HSA-9711097	Cellular response to starvation	No
R-HSA-3371571	HSF1-dependent transactivation	No
R-HSA-389357	CD28 dependent PI3K/Akt signaling	No
R-HSA-5218920	VEGFR2 mediated vascular permeability	No
R-HSA-5628897	TP53 Regulates Metabolic Genes	No
R-HSA-6804757	Regulation of TP53 Degradation	No
R-HSA-8943724	Regulation of PTEN gene transcription	No
R-HSA-2219528	PI3K/AKT Signaling in Cancer	Yes
R-HSA-5674400	Constitutive Signaling by AKT1 E17K in Cancer	Yes
R-HSA-5663202	Diseases of signal transduction	Yes
R-HSA-9920951	Dengue virus modulates apoptosis	Yes
R-HSA-2262752	Cellular responses to stress	No
R-HSA-3371556	Cellular response to heat stress	No

GO ID	Term Name
GO:0031929	TOR signaling
GO:0038202	TORC1 signaling
GO:0038203	TORC2 signaling
GO:0001558	regulation of cell growth
GO:0030307	positive regulation of cell growth
GO:0008361	regulation of cell size
GO:0045727	positive regulation of translation
GO:0045948	positive regulation of translational initiation
GO:0010507	negative regulation of autophagy
GO:0016241	regulation of macroautophagy
GO:0016242	negative regulation of macroautophagy
GO:0009267	cellular response to starvation
GO:0034198	cellular response to amino acid starvation
GO:0071230	cellular response to amino acid stimulus
GO:0071233	cellular response to L-leucine
GO:0032869	cellular response to insulin stimulus
GO:0046627	negative regulation of insulin receptor signaling
GO:0043066	negative regulation of apoptotic process
GO:0046889	positive regulation of lipid biosynthetic process
GO:0045821	positive regulation of glycolytic process

GO ID	Term Name
GO:0004674	protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0004672	protein kinase activity
GO:0005524	ATP binding
GO:0042802	identical protein binding
GO:0043022	ribosome binding
GO:0051219	phosphoprotein binding
GO:0000822	inositol hexakisphosphate binding
GO:0001002	RNA polymerase III type 1 promoter DNA binding
GO:0001003	RNA polymerase III type 2 promoter DNA binding
GO:0001006	RNA polymerase III type 3 promoter DNA binding
GO:0001156	TFIIIC-class transcription factor complex binding
GO:0004715	non-membrane spanning protein tyrosine kinase activity
GO:0044325	transmembrane transporter binding
GO:0106310	protein serine kinase activity

GO ID	Term Name
GO:0031931	TORC1 complex
GO:0031932	TORC2 complex
GO:0005829	cytosol
GO:0005737	cytoplasm
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0005886	plasma membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0000139	Golgi membrane
GO:0005741	mitochondrial outer membrane
GO:0005635	nuclear envelope
GO:0016605	PML body
GO:0030425	dendrite
GO:0045335	phagocytic vesicle
GO:0012505	endomembrane system
GO:0016020	membrane

UniProt ID	Gene	Score	Description
Q6R327	RICTOR	999	Rapamycin-insensitive companion of mTOR
Q8N122	RPTOR	999	Regulatory-associated protein of mTOR
Q9BVC4	MLST8	999	mLST8/GβL
P20071	FKBP1A	998	FK506-binding protein 1A
Q9BPZ7	MAPKAP1	998	SIN1
P85299	AKT1S1	997	PRAS40
Q15382	RHEB	997	Ras homolog enriched in brain
Q8TB45	DEPTOR	997	DEP domain containing mTOR-interacting protein
Q96B36	AKT1S1	997	Proline-rich AKT1 substrate 1
P23443	RPS6KB1	978	Ribosomal protein S6 kinase B1
O75385	ULK1	972	Unc-51 like autophagy activating kinase 1
P49815	TSC2	962	Tuberous sclerosis 2
P31749	AKT1	955	RAC-alpha serine/threonine-protein kinase
Q13541	EIF4EBP1	952	4E-BP1
P08227	APOA1	947	Apolipoprotein A1
O43156	RRAGC	939	Ras related GTP binding C
P60484	PTEN	923	Phosphatase and tensin homolog
Q92574	TSC1	915	Tuberous sclerosis 1
P06730	EIF4E	910	Eukaryotic translation initiation factor 4E
Q6MZQ0	LAMTOR1	902	Ragulator complex protein LAMTOR1
Q9HB90	RRAGC	901	Ras-related GTP-binding protein C
Q14318	FKBP8	896	FK506-binding protein 8
Q9UBS0	RPS6KB2	894	Ribosomal protein S6 kinase B2
Q5VZM2	LAMTOR3	886	Ragulator complex protein LAMTOR3
P01308	INS	882	Insulin
Q7L523	RRAGA	869	Ras-related GTP-binding protein A
Q96EB6	SIRT1	868	Sirtuin 1
Q9NQX3	GPHN	861	Gephyrin
Q14457	BECN1	851	Beclin 1
P08069	IGF1R	844	Insulin-like growth factor 1 receptor
P19484	TFEB	839	Transcription factor EB
P48736	PIK3CG	837	PI3K catalytic subunit gamma
O75143	ATG13	836	Autophagy related 13
Q13501	SQSTM1	832	Sequestosome 1
Q8TDY2	RB1CC1	828	RB1-inducible coiled-coil 1
Q9H1Y0	ATG5	820	Autophagy related 5
P35568	IRS1	813	Insulin receptor substrate 1
Q8TF40	FNIP1	808	Folliculin-interacting protein 1
P05198	EIF2S1	804	Eukaryotic translation initiation factor 2 subunit 1
P24385	CCND1	802	Cyclin D1
Q9NX09	LAMTOR4	800	Ragulator complex protein LAMTOR4
P07900	HSP90AA1	795	Heat shock protein 90 alpha
P12931	SRC	787	Proto-oncogene tyrosine-protein kinase Src
P08238	HSP90AB1	785	Heat shock protein 90 beta
Q16665	HIF1A	783	Hypoxia-inducible factor 1 alpha
P01343	LEP	781	Leptin
Q15831	STK11	776	Serine/threonine kinase 11 (LKB1)
P04637	TP53	774	Tumor protein p53

Interactor	Confidence	Interaction Type
RPTOR	0.98	physical association
RICTOR	0.97	association
ATG13/ULK1	0.94	association
MAPKAP1 (SIN1)	0.86	association
AKT1	0.81	phosphorylation reaction
FKBP1A	0.79	direct interaction
MLST8	0.76	direct interaction
ULK1	0.70	physical association
TELO2	0.60	association
RHEB	0.59	physical association

Entity A	Entity B	Effect	Mechanism	Score
MTOR	RPTOR	up-regulates activity	phosphorylation	0.99
MTOR	RPS6KB1	up-regulates activity	phosphorylation	0.96
RHEB	MTOR	up-regulates activity	binding	0.95
MTOR	EIF4EBP1	down-regulates activity	phosphorylation	0.93
MTOR	AKT1	up-regulates activity	phosphorylation	0.93
MTOR	AKT1S1	down-regulates activity	phosphorylation	0.90
MTOR	ULK1	down-regulates activity	phosphorylation	0.85
MTOR	SGK1	up-regulates	phosphorylation	0.85
sirolimus	MTOR	down-regulates	chemical inhibition	0.80
everolimus	MTOR	down-regulates	chemical inhibition	0.80

UniProt ID	Similarity Count	Top Similarity	Avg Similarity
Q9JLN9 (Mouse Mtor)	50	1.0000	0.9812
P42346 (Rat Mtor)	50	1.0000	0.9812
Q14571 (ITPR2)	50	0.9999	0.9816
Q14573 (ITPR3)	50	0.9999	0.9824
Q14643 (ITPR1)	50	1.0000	0.9811

UniProt ID	Identity	Bitscore	Description
Q9JLN9 (Mouse)	99.3%	4917	Mtor
P42346 (Rat)	99.3%	4917	Mtor
Q13315 (ATR)	88.4%	5370	ATR kinase
Q13535 (ATM)	90.3%	4737	ATM kinase
Q9JKK8 (Mouse Atr)	90.3%	4746	Atr
P42338 (PIK3CB)	95.9%	2079	PI3K beta

TF	Target	Regulation	Confidence
ATF4	MTOR	-	Low
CEBPB	MTOR	-	Low
PDX1	MTOR	-	Low
SOX2	MTOR	Activation	High
SPI1	MTOR	-	Low

ChEMBL ID	Drug Name	Type	Notes
CHEMBL413	SIROLIMUS (Rapamycin)	Small molecule	First-in-class mTOR inhibitor
CHEMBL1908360	EVEROLIMUS	Small molecule	Approved mTOR inhibitor
CHEMBL1201182	TEMSIROLIMUS	Small molecule	Approved mTOR inhibitor
CHEMBL269732	TACROLIMUS	Small molecule	Calcineurin inhibitor (immunosuppressant)
CHEMBL160	CYCLOSPORINE	Protein	Immunosuppressant
CHEMBL2396661	ALPELISIB	Small molecule	PI3K inhibitor
CHEMBL3218576	COPANLISIB	Small molecule	PI3K inhibitor

ChEMBL ID	Drug Name	Phase	Type
CHEMBL1879463	DACTOLISIB	Phase 3	Dual PI3K/mTOR inhibitor
CHEMBL2017974	BUPARLISIB	Phase 3	PI3K inhibitor
CHEMBL2387080	TASELISIB	Phase 3	PI3K inhibitor
CHEMBL592445	GEDATOLISIB	Phase 3	Dual PI3K/mTOR inhibitor
CHEMBL219410	ZOTAROLIMUS	Phase 3	mTOR inhibitor (stent coating)
CHEMBL4285417	CERALASERTIB	Phase 3	ATR inhibitor

ChEMBL ID	Drug Name	Primary Indication
CHEMBL76	CHLOROQUINE	Antimalarial
CHEMBL41	FLUOXETINE	Antidepressant
CHEMBL809	SERTRALINE	Antidepressant
CHEMBL5416410	DASATINIB	Kinase inhibitor (oncology)
CHEMBL803	CYTARABINE	Antimetabolite
CHEMBL807	MEMANTINE	NMDA antagonist

Property	Value
Expression Breadth	Ubiquitous
Total Present Calls	207
Max Expression Score	93.51

Tissue/Cell Type	Expression Score	Quality	Rank
Primordial germ cell in gonad	93.51	Gold	3030
Right hemisphere of cerebellum	92.71	Gold	3400
Cerebellar hemisphere	92.28	Gold	3600
Cerebellar cortex	92.12	Gold	3670
Left testis	92.08	Gold	3690
Right testis	91.90	Gold	3780
Gastrocnemius muscle	91.56	Gold	3930
Right frontal lobe	91.20	Gold	4110
Muscle of leg	91.14	Gold	4130
Hindlimb stylopod muscle	90.74	Gold	4320
Male germ line stem cell	90.73	Gold	4320
Ventricular zone (brain)	90.60	Gold	4380
Apex of heart	90.27	Gold	4540
Sigmoid colon muscle layer	90.11	Gold	4610
Testis	90.10	Gold	4610
Lower esophagus muscularis	90.04	Gold	4640
Lower esophagus	90.02	Gold	4650
Esophagogastric junction	89.74	Gold	4790
Tibial nerve	89.65	Gold	4820
Adenohypophysis (pituitary)	89.59	Gold	4850
Cerebellum	89.47	Gold	4910
Metanephros cortex (kidney)	89.43	Gold	4930
Stromal cell of endometrium	89.38	Gold	4950
Right lobe of liver	89.08	Gold	5090
Cortical plate (brain)	89.07	Gold	5100
Right adrenal gland cortex	88.85	Gold	5200
Right adrenal gland	88.58	Gold	5320
Popliteal artery	88.48	Gold	5370
Tibial artery	88.47	Gold	5370
Right atrium auricular region	88.46	Gold	5380

Disease	OMIM/Orphanet	Classification	Inheritance	Source
Smith-Kingsmore Syndrome (Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome)	OMIM:616638	Definitive	Autosomal Dominant	Illumina, G2P
Smith-Kingsmore Syndrome	OMIM:616638	Strong	Autosomal Dominant	Invitae
Smith-Kingsmore Syndrome	ORPHANET:457485	Supportive	Autosomal Dominant	Orphanet

Orphanet ID	Disease Name	Type	Gene Count
457485	Macrocephaly-ID-neurodevelopmental disorder-small thorax syndrome	Malformation syndrome	1
99802	Hemimegalencephaly	Malformation syndrome	3
269001	Isolated focal cortical dysplasia type IIa	Histopathological subtype	2
269008	Isolated focal cortical dysplasia type IIb	Histopathological subtype	3

HPO ID	Phenotype
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0000256	Macrocephaly
HP:0001355	Megalencephaly
HP:0007206	Hemimegalencephaly
HP:0032046	Focal cortical dysplasia
HP:0002539	Cortical dysplasia
HP:0002126	Polymicrogyria
HP:0001302	Pachygyria
HP:0002282	Gray matter heterotopia
HP:0002079	Hypoplasia of the corpus callosum
HP:0001273	Abnormal corpus callosum morphology
HP:0002119	Ventriculomegaly
HP:0002133	Status epilepticus
HP:0007359	Focal-onset seizure
HP:0011153	Focal motor seizure
HP:0010864	Severe intellectual disability
HP:0001328	Specific learning disability
HP:0000729	Autistic behavior
HP:0000752	Hyperactivity
HP:0001252	Hypotonia
HP:0001290	Generalized hypotonia
HP:0002007	Frontal bossing
HP:0000348	High forehead
HP:0011220	Prominent forehead
HP:0000316	Hypertelorism
HP:0000154	Wide mouth
HP:0000343	Long philtrum
HP:0000319	Smooth philtrum
HP:0000219	Thin upper lip vermilion
HP:0005280	Depressed nasal bridge
HP:0003196	Short nose
HP:0011800	Midface retrusion
HP:0005257	Thoracic hypoplasia
HP:0001998	Neonatal hypoglycemia
HP:0001943	Hypoglycemia
HP:0001520	Large for gestational age
HP:0001537	Umbilical hernia
HP:0001540	Diastasis recti
HP:0001538	Protuberant abdomen
HP:0000957	Cafe-au-lait spot
HP:0001028	Hemangioma
HP:0025104	Capillary malformation
HP:0001053	Hypopigmented skin patches
HP:0000486	Strabismus
HP:0000648	Optic atrophy
HP:0002171	Gliosis
HP:0002446	Astrocytosis
HP:0001442	Typified by somatic mosaicism

GWAS Study	Trait	P-value	Chromosome
GCST002502	Corneal curvature	6×10⁻¹⁸	1
GCST001101	Corneal curvature	4×10⁻¹³	1
GCST90002397	Mean spheric corpuscular volume	1×10⁻²¹	1
GCST90002396	Mean reticulocyte volume	5×10⁻¹⁶	1
GCST006288	Heel bone mineral density	1×10⁻¹⁰	1
GCST90002392	Mean corpuscular volume	4×10⁻⁹	1
GCST90020024	A body shape index	5×10⁻⁹	1
GCST011329	Body mass index and type 2 diabetes	2×10⁻⁸	1
GCST003475	Beard thickness	4×10⁻⁷	1
GCST002783	Body mass index	2×10⁻⁶	1
GCST006288	Heel bone mineral density	2×10⁻⁶	1
GCST002783	Body mass index	9×10⁻⁶	1

Database	Records	Primary Use
HGNC	1	Gene nomenclature
Ensembl	24 transcripts	Genomic annotation
NCBI Entrez	1	Gene reference
RefSeq	36	Transcripts/proteins
UniProt	1 (reviewed)	Protein annotation
OMIM	1	Mendelian genetics
ClinVar	2,915	Clinical variants
AlphaMissense	16,807	Missense predictions
SpliceAI	8,698	Splice predictions
PDB	61	3D structures
Reactome	41	Pathways
GO	119	Functional annotation
STRING	8,056+	Protein interactions
IntAct	467+	Validated interactions
SIGNOR	166	Signaling interactions
ChEMBL	6,710+	Drug activities
Bgee	207 tissues	Expression
GWAS Catalog	12	Trait associations
HPO	103	Phenotypes
GenCC	4	Gene-disease curation

Category	Count/Key Info
Gene ID	HGNC:3942, ENSG00000198793, Entrez 2475
Location	Chr1:11,106,531-11,262,556 (1p36.22), minus strand
Transcripts	24 Ensembl transcripts, MANE Select: NM_004958
Exons	58 exons in canonical transcript
Protein	UniProt P42345, 2,549 aa, 289 kDa
Domains	16 InterPro entries (PI3K, FAT, FATC, FRB, mTOR domains)
PDB Structures	61 (33 X-ray, 27 Cryo-EM, 3 NMR)
Clinical Variants	2,915 total (23 Pathogenic, 27 Likely Pathogenic)
AI Predictions	16,807 AlphaMissense, 8,698 SpliceAI
Pathways	41 Reactome pathways
GO Terms	119 (85 BP, 15 MF, 19 CC)
Protein Interactions	8,056+ STRING, 467+ IntAct
Targeting Drugs	Sirolimus, Everolimus, Temsirolimus (approved)
Expression	Ubiquitous (highest in testis, cerebellum, muscle)
Disease	Smith-Kingsmore syndrome (Definitive), Focal cortical dysplasia