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

DatabaseIdentifierDetails HGNCHGNC:1884Approved symbol: CFTR EnsemblENSG00000001626protein_coding NCBI Entrez1080protein-coding OMIM602421Gene/Locus Gene Names and Aliases Approved Name: CF transmembrane conductance regulator Previous Names: cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) Previous Symbols: CF, ABCC7 Aliases: MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP Genomic Location PropertyValue Chromosome7 Cytogenetic Band7q31.2 Start …

Property	Value
Chromosome	7
Cytogenetic Band	7q31.2
Start Position	117,287,120
End Position	117,715,971
Strand	+ (forward)
Gene Length	428,851 bp

Transcript ID	Biotype	Start	End
ENST00000003084	protein_coding (MANE Select)	117,480,025	117,668,665
ENST00000426809	protein_coding	117,480,095	117,667,071
ENST00000446805	protein_coding	117,478,368	117,530,978
ENST00000468795	protein_coding	117,611,617	117,627,910
ENST00000600166	protein_coding	117,652,843	117,715,948
ENST00000648260	protein_coding	117,480,011	117,627,910
ENST00000649406	protein_coding	117,480,011	117,627,910
ENST00000649781	protein_coding	117,480,011	117,668,588
ENST00000673785	protein_coding	117,287,120	117,548,675
ENST00000689011	protein_coding	117,614,664	117,668,665
ENST00000699596	protein_coding	117,479,988	117,559,912
ENST00000699597	protein_coding	117,479,988	117,559,913
ENST00000699602	protein_coding	117,479,988	117,668,588
ENST00000699605	protein_coding	117,480,025	117,668,588
ENST00000889206	protein_coding	117,479,980	117,668,660
ENST00000889207	protein_coding	117,479,997	117,668,665
ENST00000889208	protein_coding	117,480,025	117,668,665
ENST00000889209	protein_coding	117,480,027	117,668,665
ENST00000889210	protein_coding	117,480,025	117,668,660
ENST00000950799	protein_coding	117,479,959	117,668,660
ENST00000429014	protein_coding_CDS_not_defined	117,689,713	117,715,971
ENST00000436097	protein_coding_CDS_not_defined	117,287,128	117,322,236
ENST00000472848	protein_coding_CDS_not_defined	117,559,638	117,587,749
ENST00000546407	protein_coding_CDS_not_defined	117,465,784	117,504,308
ENST00000608965	protein_coding_CDS_not_defined	117,710,017	117,715,873
ENST00000610149	protein_coding_CDS_not_defined	117,710,132	117,715,827
ENST00000647639	protein_coding_CDS_not_defined	117,480,011	117,511,329
ENST00000692802	protein_coding_CDS_not_defined	117,480,011	117,483,309
ENST00000693465	protein_coding_CDS_not_defined	117,480,010	117,507,439
ENST00000693480	protein_coding_CDS_not_defined	117,480,011	117,482,388
ENST00000699603	protein_coding_CDS_not_defined	117,480,011	117,481,314
ENST00000647720	nonsense_mediated_decay	117,479,988	117,668,562
ENST00000647978	nonsense_mediated_decay	117,480,011	117,668,588
ENST00000649850	nonsense_mediated_decay	117,480,011	117,529,534
ENST00000685018	nonsense_mediated_decay	117,479,988	117,668,665
ENST00000687278	nonsense_mediated_decay	117,479,988	117,668,665
ENST00000699585	nonsense_mediated_decay	117,479,988	117,668,563
ENST00000699598	nonsense_mediated_decay	117,479,988	117,668,561
ENST00000699599	nonsense_mediated_decay	117,479,988	117,668,561
ENST00000699600	nonsense_mediated_decay	117,479,988	117,668,562
ENST00000699601	nonsense_mediated_decay	117,479,988	117,668,588
ENST00000699604	nonsense_mediated_decay	117,480,011	117,668,588
ENST00000621535	retained_intron	117,713,753	117,715,901
ENST00000699606	retained_intron	117,650,801	117,668,561

Exon ID	Start	End	Length
ENSE00001343851	117,480,025	117,480,147	122
ENSE00003976987	117,504,253	117,504,363	110
ENSE00003976975	117,509,034	117,509,142	108
ENSE00000718611	117,530,899	117,531,114	215
ENSE00000718620	117,534,276	117,534,365	89
ENSE00000718626	117,535,248	117,535,411	163
ENSE00000718630	117,536,548	117,536,673	125
ENSE00000718634	117,540,100	117,540,346	246
ENSE00000718637	117,542,016	117,542,108	92
ENSE00003976986	117,548,641	117,548,823	182
ENSE00003977079	117,559,464	117,559,655	191
ENSE00003977066	117,587,739	117,587,833	94
ENSE00003977041	117,590,353	117,590,439	86
ENSE00003977038	117,591,934	117,592,657	723
ENSE00003977072	117,594,930	117,595,058	128
ENSE00003977044	117,602,826	117,602,863	37
ENSE00003977055	117,603,532	117,603,782	250
ENSE00003977054	117,606,674	117,606,753	79
ENSE00003977056	117,610,519	117,610,669	150
ENSE00000977443	117,611,581	117,611,808	227
ENSE00000718699	117,614,613	117,614,713	100
ENSE00003936498	117,627,522	117,627,770	248
ENSE00003925242	117,642,438	117,642,593	155
ENSE00003833777	117,652,842	117,652,931	89
ENSE00003840813	117,664,688	117,664,860	172
ENSE00003835972	117,665,459	117,665,564	105
ENSE00000977444	117,666,908	117,668,665	1,757

Accession	Status	Notes
P13569	✓ Reviewed (Swiss-Prot)	Canonical entry
A0A3B3IT97	Unreviewed	Isoform
A0A3B3ITE0	Unreviewed	Isoform
A0A3B3ITW0	Unreviewed	Isoform
A0A3B3ITW5	Unreviewed	Isoform
A0A669KBE8	Unreviewed	Isoform
A0A8I5KVL1	Unreviewed	Isoform
A0A8I5KVV2	Unreviewed	Isoform
A0A8I5KXQ9	Unreviewed	Isoform
A0A8V8TNG7	Unreviewed	Isoform
A0A8V8TNH2	Unreviewed	Isoform
A0A8V8TNN0	Unreviewed	Isoform
A0A8V8TNN7	Unreviewed	Isoform
A0A8V8TPV6	Unreviewed	Isoform
A0A8V8TQ89	Unreviewed	Isoform
A0A8V8TQ94	Unreviewed	Isoform
C9J6L5	Unreviewed	Isoform
E7EPB6	Unreviewed	Isoform
H0Y8A9	Unreviewed	Isoform
M0QYZ3	Unreviewed	Isoform

Property	Value
Name	Cystic fibrosis transmembrane conductance regulator
Alternative Names	ATP-binding cassette sub-family C member 7; Channel conductance-controlling ATPase; cAMP-dependent chloride channel
Length	1,480 amino acids
Molecular Mass	168,142 Da

CFTR Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Details
HGNC	HGNC:1884	Approved symbol: CFTR
Ensembl	ENSG00000001626	protein_coding
NCBI Entrez	1080	protein-coding
OMIM	602421	Gene/Locus

InterPro ID	Name	Type
IPR003439	ABC_transporter-like_ATP-bd	Domain
IPR003593	AAA+_ATPase	Domain
IPR009147	CFTR/ABCC7	Family
IPR011527	ABC1_TM_dom	Domain
IPR017871	ABC_transporter-like_CS	Conserved_site
IPR025837	CFTR_reg_dom	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036640	ABC1_TM_sf	Homologous_superfamily
IPR047082	CFTR1_ATP-bd_dom1	Domain
IPR050173	ABC_transporter_C-like	Family

Property	Value
AlphaFold ID	P13569
Global pLDDT	75.96
Sequence Length	11,845 (residue positions)
Fraction Very High Confidence	0.33

PDB ID	Title	Method	Resolution (Å)
9MXL	CFTR with (R)-BPO-27 and ATP/Mg	Cryo-EM	2.1
9DW9	Phosphorylated (E1371Q)CFTR with PKA-C	Cryo-EM	2.8
7SVD	CFTR with ATP/Mg and Lumacaftor (VX-809)	Cryo-EM	2.7
8UBR	CFTR with CFTRinh-172 and ATP/Mg	Cryo-EM	2.7
8EIO	ΔF508 CFTR with elexacaftor and lumacaftor	Cryo-EM	2.8
8EIQ	ΔF508 CFTR with Trikafta (triple combo)	Cryo-EM	3.0
6MSM	Phosphorylated, ATP-bound CFTR	Cryo-EM	3.2
6O1V	CFTR with GLPG1837	Cryo-EM	3.2
6O2P	CFTR with ivacaftor	Cryo-EM	3.3
9DW5	Dephosphorylated CFTR with PKA-C	Cryo-EM	3.8
8EIG	ΔF508 CFTR with elexacaftor	Cryo-EM	3.6
5UAK	Dephosphorylated, ATP-free CFTR	Cryo-EM	3.87
2PZE	NBD1 head-to-tail dimer	X-ray	1.7
2PZG	NBD1 monomer	X-ray	1.8
5TFJ	NBD1 with dCTP	X-ray	1.85
6WBS	NBD1 ΔF508/V510D	X-ray	1.857
5TF8	NBD1 with dTTP	X-ray	1.861
5TFA	NBD1 with dUTP	X-ray	1.87
5TFB	NBD1 with 7-methyl-GTP	X-ray	1.87
5TFD	NBD1 with CTP	X-ray	1.891
5TFF	NBD1 with UTP	X-ray	1.891
5TFI	NBD1 with dGTP	X-ray	1.891
5TFG	NBD1 with 5-methyl-UTP	X-ray	1.91
5TGK	NBD1 with dATP	X-ray	1.912
5TFC	NBD1 with GTP	X-ray	1.92
5TF7	NBD1 with ATP	X-ray	1.931
6GJS	NBD1 with nanobodies D12 and T4	X-ray	1.95
2PZF	NBD1 ΔF508 head-to-tail dimer	X-ray	2.0
2BBS	ΔF508 NBD1 with solubilizing mutations	X-ray	2.05
4WZ6	NBD1 ΔF508 bound ATP	X-ray	2.05
5D2D	14-3-3 zeta with CFTR R-domain peptide	X-ray	2.1
1XMI	F508A NBD1 with ATP	X-ray	2.25
1XMJ	ΔF508 NBD1 with ATP	X-ray	2.3
2BBT	ΔF508 NBD1 with solubilizing mutations	X-ray	2.3
6GJQ	NBD1 with nanobody T27	X-ray	2.49
2BBO	NBD1 with Phe508	X-ray	2.55
6GJU	NBD1 with nanobodies T2a and T4	X-ray	2.6
3GD7	NBD2 with P-ATP	X-ray	2.7
6UK1	NBD2	X-ray	2.693
6ZE1	NBD1 with nanobody G11a	X-ray	2.705
5D3E	14-3-3 gamma with CFTR R-domain peptide	X-ray	2.75
5D3F	14-3-3 zeta with CFTR peptide and fusicoccin-A	X-ray	2.74
3ISW	Filamin-A with CFTR N-terminal peptide	X-ray	2.8
6GK4	NBD1 with nanobodies D12 and T8	X-ray	2.91
6GKD	NBD1 with nanobodies D12 and G3a	X-ray	2.99
2LOB	PDZ Domain of CAL	Solution NMR	-

Organism	Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000041301	Cftr	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000055103	Cftr	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000041107	cftr	protein_coding
Fruit fly (Drosophila melanogaster)	FBGN0010549	l(2)03659	protein_coding
Fruit fly (D. melanogaster)	FBGN0032456	MRP	protein_coding
Fruit fly (D. melanogaster)	FBGN0038740	Mrp5	protein_coding
Fruit fly (D. melanogaster)	FBGN0263316	Mrp4	protein_coding
Worm (C. elegans)	WBGENE00000477	-	-
Yeast (S. cerevisiae)	No direct ortholog	-	-

Classification	Count (sampled)
Pathogenic	100+
Likely Pathogenic	50+
Uncertain Significance	3,000+
Likely Benign	1,500+
Benign	500+

ClinVar ID	HGVS Notation	Type	Classification
1300163	c.761del (p.Lys254fs)	Deletion	Pathogenic
1300164	c.580G>A (p.Gly194Arg)	SNV	Pathogenic
1300165	c.3382A>T (p.Arg1128Ter)	SNV	Pathogenic
1300166	c.3600del (p.Asp1201fs)	Deletion	Pathogenic
1048778	c.89dup (p.Arg31fs)	Duplication	Pathogenic
1069281	c.2560dup (p.Thr854fs)	Duplication	Pathogenic
1069526	c.489+1G>A	SNV	Pathogenic
1069549	c.300_301del (p.Leu101fs)	Deletion	Pathogenic
1073653	c.1573del (p.Gln525fs)	Deletion	Pathogenic
1185022	c.2335C>T (p.Gln779Ter)	SNV	Pathogenic
1244250	c.2917C>T (p.Leu973Phe)	SNV	Pathogenic
1322070	c.2909-1G>A	SNV	Pathogenic
1328993	c.396del (p.Ile132fs)	Deletion	Pathogenic
1330378	c.3741_3745dup (p.Gly1249fs)	Duplication	Pathogenic
1330401	c.580G>T (p.Gly194Ter)	SNV	Pathogenic
1332860	c.2848del (p.His950fs)	Deletion	Pathogenic
1353073	c.307G>T (p.Gly103Ter)	SNV	Pathogenic
1361726	c.3185_3191del (p.Leu1062fs)	Deletion	Pathogenic
1373833	c.831G>A (p.Trp277Ter)	SNV	Pathogenic
1374672	c.3725del (p.Leu1242fs)	Deletion	Pathogenic
1387407	c.3736del (p.Thr1246fs)	Deletion	Pathogenic
1397987	c.2341C>T (p.Gln781Ter)	SNV	Pathogenic
1400413	c.2872C>T (p.Gln958Ter)	SNV	Pathogenic
1406009	c.503C>G (p.Ser168Ter)	SNV	Pathogenic
1418433	c.2956del (p.Leu986fs)	Deletion	Pathogenic
1418949	c.922_926del (p.Ser308fs)	Deletion	Pathogenic
1425559	c.2012T>A (p.Leu671Ter)	SNV	Pathogenic
1443618	c.2261del (p.Val754fs)	Deletion	Pathogenic
1450404	c.2994del (p.Leu998fs)	Deletion	Pathogenic
1451980	c.2435dup (p.Leu812fs)	Duplication	Pathogenic
1452452	c.2959_2960dup (p.Pro988fs)	Duplication	Pathogenic
1453519	c.4387_4388del (p.Gln1463fs)	Deletion	Pathogenic
1453724	c.326_327del (p.Ser108_Tyr109insTer)	Deletion	Pathogenic
1457083	c.1243_1247del (p.Gln414_Asn415insTer)	Deletion	Pathogenic
1457828	c.2301del (p.Gln767fs)	Deletion	Pathogenic
1458639	c.579+1_579+2insACAT	Insertion	Pathogenic
1459556	c.156del (p.Lys52fs)	Deletion	Pathogenic
161997	c.2700T>A (p.Asn900Lys)	SNV	Pathogenic
161999	c.2443G>T (p.Glu815Ter)	SNV	Pathogenic
162000	c.830G>A (p.Trp277Ter)	SNV	Pathogenic
1677121	c.1551C>G (p.Tyr517Ter)	SNV	Pathogenic
1685614	c.532G>C (p.Gly178Arg)	SNV	Pathogenic
1685616	c.1227_1228del (p.Phe409fs)	Deletion	Pathogenic
1685617	c.1343_1350del (p.Ile448fs)	Deletion	Pathogenic
1685618	c.1547_1548del (p.Arg516fs)	Deletion	Pathogenic
1685620	c.2278dup (p.Thr760fs)	Duplication	Pathogenic
1685621	c.2988+2T>G	SNV	Pathogenic
1685622	c.3301del (p.Gln1100_Met1101insTer)	Deletion	Pathogenic
1685623	c.3639dup (p.Asp1214fs)	Duplication	Pathogenic
1704256	c.433C>G (p.Leu145Val)	SNV	Pathogenic

Variant	Effect	Delta Score
7:117294557:A:AC	acceptor_gain	0.89
7:117294558:C:CC	acceptor_gain	0.89
7:117294553:T:TA	acceptor_gain	0.87
7:117294559:T:C	acceptor_gain	0.86
7:117293144:A:AC	donor_gain	0.76
7:117293145:T:C	donor_gain	0.74
7:117295480:CCT:C	acceptor_gain	0.73
7:117295481:CT:C	acceptor_gain	0.50
7:117294552:AT:A	acceptor_gain	0.65
7:117295366:GCTAT:G	acceptor_gain	0.65
7:117295478:CACCT:C	acceptor_gain	0.65
7:117288433:AT:A	acceptor_gain	0.63
7:117288274:A:AC	donor_gain	0.66
7:117288275:C:CC	donor_gain	0.66
7:117288434:T:A	acceptor_gain	0.65
7:117295440:TAGTA:T	acceptor_gain	0.58
7:117294591:A:C	acceptor_gain	0.57
7:117295506:TC:T	acceptor_gain	0.54
7:117295508:T:A	acceptor_gain	0.54
7:117295441:A:AC	donor_gain	0.53
7:117294551:AAT:A	acceptor_gain	0.52
7:117293203:T:TA	acceptor_gain	0.51
7:117295368:T:A	acceptor_gain	0.50
7:117288276:T:C	donor_gain	0.48
7:117293164:C:CA	donor_gain	0.47
7:117294620:T:TT	acceptor_gain	0.42
7:117294592:C:CC	acceptor_gain	0.47
7:117295398:C:T	acceptor_gain	0.41

Variant	Protein Change	Pathogenicity Score	Class
7:117480143:T:C	F17L	0.958	likely_pathogenic
7:117480143:T:A	F17I	0.880	likely_pathogenic
7:117480119:G:C	A9P	0.876	likely_pathogenic
7:117480120:C:A	A9D	0.811	likely_pathogenic
7:117480143:T:G	F17V	0.778	likely_pathogenic
7:117480131:T:C	S13P	0.768	likely_pathogenic
7:117480138:T:C	L15P	0.763	likely_pathogenic
7:117480132:C:T	S13F	0.762	likely_pathogenic
7:117480120:C:T	A9V	0.754	likely_pathogenic
7:117480108:C:T	P5L	0.753	likely_pathogenic
7:117480105:C:G	S4W	0.727	likely_pathogenic
7:117480108:C:A	P5H	0.682	likely_pathogenic
7:117480119:G:A	A9T	0.672	likely_pathogenic
7:117480132:C:A	S13Y	0.672	likely_pathogenic
7:117480138:T:A	L15H	0.655	likely_pathogenic
7:117480140:T:C	F16L	0.635	likely_pathogenic
7:117480142:T:A	F16L	0.635	likely_pathogenic
7:117480113:G:A	E7K	0.632	likely_pathogenic
7:117480129:T:A	V12D	0.623	likely_pathogenic
7:117480138:T:G	L15R	0.624	likely_pathogenic
7:117480105:C:T	S4L	0.609	likely_pathogenic
7:117480108:C:G	P5R	0.602	likely_pathogenic
7:117480107:C:A	P5T	0.596	likely_pathogenic
7:117480107:C:T	P5S	0.587	likely_pathogenic
7:117480104:T:C	S4P	0.585	likely_pathogenic

Pathway ID	Pathway Name	Disease Pathway
R-HSA-5678895	Defective CFTR causes cystic fibrosis	✓ Yes
R-HSA-382556	ABC-family proteins mediated transport	No
R-HSA-5627083	RHO GTPases regulate CFTR trafficking	No
R-HSA-5689880	Ub-specific processing proteases	No
R-HSA-8856825	Cargo recognition for clathrin-mediated endocytosis	No
R-HSA-8856828	Clathrin-mediated endocytosis	No
R-HSA-9013406	RHOQ GTPase cycle	No
R-HSA-9613829	Chaperone Mediated Autophagy	No
R-HSA-9615710	Late endosomal microautophagy	No
R-HSA-9646399	Aggrephagy	No
R-HSA-9925563	Developmental Lineage of Pancreatic Ductal Cells	No

GO ID	Term
GO:0005254	chloride channel activity
GO:0005260	intracellularly ATP-gated chloride channel activity
GO:0005524	ATP binding
GO:0015106	bicarbonate transmembrane transporter activity
GO:0015108	chloride transmembrane transporter activity
GO:0016887	ATP hydrolysis activity
GO:0017081	chloride channel regulator activity
GO:0019869	chloride channel inhibitor activity
GO:0019899	enzyme binding
GO:0030165	PDZ domain binding
GO:0051087	protein-folding chaperone binding
GO:0071889	14-3-3 protein binding
GO:0106138	Sec61 translocon complex binding
GO:0140359	ABC-type transporter activity

GO ID	Term
GO:0006695	cholesterol biosynthetic process
GO:0006833	water transport
GO:0015701	bicarbonate transport
GO:0030301	cholesterol transport
GO:0034976	response to endoplasmic reticulum stress
GO:0035377	transepithelial water transport
GO:0048240	sperm capacitation
GO:0050891	multicellular organismal-level water homeostasis
GO:0051454	intracellular pH elevation
GO:0051649	establishment of localization in cell
GO:0055085	transmembrane transport
GO:0060081	membrane hyperpolarization
GO:0070175	positive regulation of enamel mineralization
GO:0071320	cellular response to cAMP
GO:0097186	amelogenesis
GO:1902476	chloride transmembrane transport
GO:1904322	cellular response to forskolin

GO ID	Term
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005765	lysosomal membrane
GO:0005769	early endosome
GO:0005789	endoplasmic reticulum membrane
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0009986	cell surface
GO:0010008	endosome membrane
GO:0016020	membrane
GO:0016323	basolateral plasma membrane
GO:0016324	apical plasma membrane
GO:0030660	Golgi-associated vesicle membrane
GO:0030669	clathrin-coated endocytic vesicle membrane
GO:0031901	early endosome membrane
GO:0032991	protein-containing complex
GO:0034707	chloride channel complex
GO:0055037	recycling endosome
GO:0055038	recycling endosome membrane

UniProt ID	Interaction Score
O14745 (SLC9A3R1/NHERF1)	996
Q9HD26 (GOPC)	937
P07900 (HSP90AA1)	929
P08238 (HSP90AB1)	925
Q5T2W1 (DNAJC5G)	920
Q9BXS9 (TMEM43)	917
Q99942 (RNF5)	898
P51168 (GNB2L1/RACK1)	896
Q15599 (SLC9A3R2/NHERF2)	891
P51170 (SCNN1G)	886
P00995 (SPINK1)	880
P40879 (SLC26A3)	878
Q7LBE3 (FKBP14)	874
P48048 (KCNJ1)	871
P07477 (PRSS1)	854
Q5XXA6 (ANO1)	841
Q86UT5 (LRRC8D)	832
Q9UNE7 (STUB1/CHIP)	831
P48764 (SLC26A9)	826
P11142 (HSPA8)	825
P27824 (CANX)	820
P37088 (SCNN1A)	819
P25092 (GUCY2C)	817
Q9UQC9 (CHGB)	817
A8K7I4 (DNAJC5B)	809
O95433 (AHSA1)	808
P55011 (SLC12A2)	804
Q02747 (GCG)	797
P15311 (EZR)	792
Q99895 (CHIT1)	775
P17612 (PRKACA)	770
P22612 (PRKACG)	770
P22694 (PRKACB)	770
Q16661 (GDF15)	764
Q96PU5 (NEDD4L)	763
O43511 (SLC26A6)	752
P25685 (DNAJB1)	744
P51572 (BCAP31)	734
Q14CN2 (LRRC8C)	720
P34932 (HSPA4)	714

Interactor	Interaction Type	Confidence
NHERF1 (SLC9A3R1)	direct interaction	0.94
NHERF2 (SLC9A3R2)	direct interaction	0.94
GOPC	physical association	0.77
PDZK1	physical association	0.78
ACTB	physical association	0.73
CAP1	physical association	0.72
ESYT2	association	0.71
XPO1	association	0.71
USP10	physical association	0.66
Shank2	physical association	0.66
KCNN4	physical association	0.60
RAB5A	association	0.61
CAPN1	physical association	0.60
BCAP31	physical association	0.58
ANTXR2	physical association	0.52
CALU	physical association	0.52
C8orf33	physical association	0.52
LPAR2	association	0.50
CLCN3	physical association	0.50

Regulator	Effect	Mechanism
PRKACA	up-regulates activity	phosphorylation
PRKG1	up-regulates	phosphorylation
PRKCA	up-regulates activity	phosphorylation
AMPK	down-regulates activity	phosphorylation
PRKAA1	down-regulates activity	phosphorylation
CSNK2A1	up/down-regulates	phosphorylation
STK39	down-regulates activity	phosphorylation
LMTK2	down-regulates activity	phosphorylation
PP1	up-regulates activity	dephosphorylation
GOPC	down-regulates	binding
HSPA8	down-regulates quantity	binding
RNF5	down-regulates quantity	ubiquitination
STUB1	down-regulates quantity	ubiquitination
MARCHF2	down-regulates quantity	ubiquitination
FOXI1	up-regulates	transcriptional regulation

UniProt ID	Top Similarity	Avg Similarity
P35071 (SLC6A14)	0.9999	0.9985
Q00555 (SLC6A1)	0.9999	0.9983
O60706 (ABCC9)	0.9999	0.9947
Q9TSP5	1.0000	0.9986
Q9TUQ2	1.0000	0.9986
P70170 (CFTR mouse)	1.0000	0.9945
P82451 (CFTR)	0.9999	0.9946

UniProt ID	Identity (%)	Bitscore
Q00553	100.0	2844
Q7JII7	100.0	2844
Q7JII8	100.0	2844
P13569 (self)	99.7	2829
Q9TSP5	99.9	2843
Q9TUQ2	99.9	2843
P35071	98.4	2796
Q00555	98.4	2799
E9Q236 (mouse)	95.1	2461
F1M3J4	95.1	2469
P26361	91.9	2628

TF Gene	Regulation	Confidence
ATF1	Activation	High
CDX2	Activation	High
CTCF	Unknown	High
CUX1	Unknown	High
DNMT1	-	High
ESR1	-	High
HNF1A	Activation	High
NFE2L2	Activation	High
NFKB	Activation	High
NR3C1	-	High
SP1	Unknown	High
TBP	-	High
USF1	-	High
USF2	Unknown	High
YY1	Activation	High
FOXA1	Repression	-
FOXA2	Repression	-
FOXI1	Repression	High
CEBPA	Unknown	-
CEBPB	-	Low
CEBPD	Unknown	Low
CEBPG	-	Low
FOXJ1	-	Low
HIF1A	-	Low
HNF1B	-	Low
KAT7	-	Low
NFKB1	Activation	Low
PBX1	Unknown	-
RELA	Activation	Low
SP3	Unknown	-
SRF	Unknown	-
STAT1	Activation	-
TCF4	Activation	-
TFAP2A	Unknown	-
TXK	-	Low

ChEMBL Target ID	Target Name	Target Type
CHEMBL4051	Cystic fibrosis transmembrane conductance regulator	SINGLE PROTEIN
CHEMBL3885559	CFTR/GOPC complex	PROTEIN-PROTEIN INTERACTION

ChEMBL ID	Drug Name	Type	Phase	Mechanism
CHEMBL2010601	IVACAFTOR (Kalydeco)	Small molecule	4 (Approved)	CFTR potentiator
CHEMBL2103870	LUMACAFTOR (Orkambi component)	Small molecule	4 (Approved)	CFTR corrector
CHEMBL3544914	TEZACAFTOR (Symdeko component)	Small molecule	4 (Approved)	CFTR corrector
CHEMBL472	GLYBURIDE	Small molecule	4 (Approved)	CFTR inhibitor
CHEMBL4297849	BAMOCAFTOR	Small molecule	3	CFTR corrector
CHEMBL226335	RUTIN	Small molecule	3	-
CHEMBL50	QUERCETIN	Small molecule	3	-

Drug	Effect	Mechanism
Ivacaftor	down-regulates	chemical inhibition
Glyburide	down-regulates activity	chemical inhibition
Tolbutamide	down-regulates activity	chemical inhibition

Tissue	Expression Score	Quality
Body of pancreas	99.02	Gold
Gall bladder	96.99	Gold
Pancreas	96.76	Gold
Rectum	95.92	Gold
Mucosa of sigmoid colon	95.82	Gold
Colonic mucosa	95.77	Gold
Islet of Langerhans	95.45	Gold
Duodenum	95.09	Gold
Mucosa of transverse colon	92.93	Gold
Jejunal mucosa	92.39	Gold
Transverse colon	88.98	Gold
C1 segment of cervical spinal cord	87.52	Gold
Minor salivary gland	86.75	Gold
Saliva-secreting gland	86.69	Gold
Male germ line stem cell in testis	85.40	Gold
Parotid gland	84.91	Gold
Large intestine	83.66	Gold
Intestine	83.25	Gold
Colon	83.14	Gold
Mouth mucosa	82.90	Gold
Spinal cord	82.59	Gold
Olfactory segment of nasal mucosa	82.57	Gold
Colonic epithelium	81.31	Gold
Small intestine Peyer's patch	81.14	Gold
Small intestine	81.07	Gold
Primordial germ cell in gonad	80.67	Gold
Caput epididymis	80.63	Gold
Body of uterus	79.82	Gold
Palpebral conjunctiva	79.80	Gold
Epithelium of bronchus	79.53	Gold

Cell Type	Expression Score	Quality
Male germ line stem cell (Vertebrata) in testis	85.40	Gold
Type B pancreatic cell	79.10	Silver
Bronchial epithelial cell	78.65	Gold
Epithelial cell of pancreas	78.10	Gold
Pancreatic ductal cell	75.32	Silver

Dataset ID	Description	Species	Cells
E-GEOD-81547	Single cell transcriptome of human pancreas	Homo sapiens	2,544
E-GEOD-81608	Human islet cells from non-diabetic and T2D donors	Homo sapiens	1,600
E-GEOD-83139	Human pancreatic endocrine cells	Homo sapiens	635
E-MTAB-5061	Human pancreas from healthy and T2D patients	Homo sapiens	3,386

Disease	Classification	Inheritance	Submitter
Cystic fibrosis	Definitive	Autosomal recessive	Laboratory for Molecular Medicine
Cystic fibrosis	Definitive	Autosomal recessive	Myriad Women's Health
Cystic fibrosis	Strong	Autosomal recessive	Labcorp Genetics
Cystic fibrosis	Supportive	Autosomal recessive	Orphanet
Hereditary chronic pancreatitis	Limited	Autosomal dominant	Labcorp Genetics
Congenital bilateral absence of vas deferens	Supportive	Autosomal recessive	Orphanet

ORPHA ID	Disease Name	Type	Phenotype Count
586	Cystic fibrosis	Disease	35
48	Congenital bilateral absence of vas deferens	Morphological anomaly	7
399805	Male infertility with azoospermia/oligozoospermia	Disease	7
498359	Aquagenic palmoplantar keratoderma	Disease	12
60033	Idiopathic bronchiectasis	Disease	19
700124	Autosomal recessive hereditary chronic pancreatitis	Disease	0

HPO ID	Phenotype
HP:0002110	Bronchiectasis
HP:0002205	Recurrent respiratory infections
HP:0001738	Exocrine pancreatic insufficiency
HP:0012873	Absent vas deferens
HP:0003251	Male infertility
HP:0002570	Steatorrhea
HP:0001733	Pancreatitis
HP:0004401	Meconium ileus
HP:0000027	Azoospermia
HP:0012236	Elevated sweat chloride
HP:0002107	Pneumothorax
HP:0002097	Emphysema
HP:0006528	Chronic lung disease
HP:0006532	Recurrent pneumonia
HP:0006538	Recurrent bronchopulmonary infections
HP:0002783	Recurrent lower respiratory tract infections
HP:0001394	Cirrhosis
HP:0002613	Biliary cirrhosis
HP:0001508	Failure to thrive
HP:0002024	Malabsorption
HP:0002014	Diarrhea
HP:0030877	Reduced FEV1/FVC ratio
HP:0002094	Dyspnea
HP:0004469	Chronic bronchitis
HP:0011109	Chronic sinusitis
HP:0000246	Sinusitis
HP:0100582	Nasal polyposis
HP:0002724	Recurrent Aspergillus infections
HP:0002842	Recurrent Burkholderia cepacia infections
HP:0002726	Recurrent Staphylococcus aureus infections
HP:0001217	Clubbing
HP:0100759	Clubbing of fingers
HP:0030828	Wheezing
HP:0031245	Productive cough
HP:0002105	Hemoptysis
HP:0001648	Cor pulmonale
HP:0002202	Pleural effusion
HP:0000939	Osteoporosis
HP:0000938	Osteopenia
HP:0000819	Diabetes mellitus
HP:0001944	Dehydration
HP:0002020	Gastroesophageal reflux
HP:0002027	Abdominal pain
HP:0002035	Rectal prolapse
HP:0002240	Hepatomegaly
HP:0001433	Hepatosplenomegaly
HP:0002910	Elevated hepatic transaminase
HP:0000798	Oligozoospermia
HP:0011961	Non-obstructive azoospermia
HP:0011962	Obstructive azoospermia

Study ID	Trait/Disease	P-value	Mapped Gene
GCST90014023	Type 1 diabetes	2.0×10⁻¹⁶	CFTR
GCST003740	Barrett's esophagus / Esophageal adenocarcinoma	5.0×10⁻¹⁰	CFTR
GCST005956	Waist-to-hip ratio adjusted for BMI	5.0×10⁻⁹	ST7 - MTND4P6
GCST006395	Glaucoma	3.0×10⁻⁸	CTTNBP2 - LSM8
GCST001356	Gout	1.0×10⁻⁷	CFTR
GCST005962	WHR adjusted for BMI × sex × age	3.0×10⁻⁷	ST7 - MTND4P6
GCST001629	Response to platinum-based chemotherapy	4.0×10⁻⁷	ANKRD7
GCST002408	Response to methotrexate in juvenile idiopathic arthritis	5.0×10⁻⁷	CTTNBP2

Category	Count
Ensembl Transcripts	44
UniProt Accessions	20
PDB Structures	58
ClinVar Variants	5,919
SpliceAI Predictions	9,348
AlphaMissense Predictions	9,721
GO Terms	51
Reactome Pathways	11
STRING Interactions	4,858
IntAct Interactions	860
TF Regulators	35
HPO Phenotypes	103
GWAS Associations	9
Approved Drugs	4