Provide a comprehensive cross-database identifier and functional mapping reference for human KIT. 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 KIT. This should serve as a definitive
lookup resource for researchers.

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 1: GENE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Provide ALL gene-level database identifiers:
- HGNC ID and approved symbol
- Ensembl gene ID (ENSG)
- NCBI Entrez Gene ID
- OMIM gene/locus ID
- Genomic location: chromosome, start position, end position, strand

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 2: TRANSCRIPT IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL transcript-level identifiers:
- Ensembl transcripts: ALL ENST IDs with biotype (protein_coding, etc.)
  How many total transcripts?
- RefSeq transcripts: ALL NM_ mRNA accessions
  Mark which is MANE Select (canonical clinical standard)
- CCDS IDs: ALL consensus coding sequence identifiers

For the CANONICAL/MANE SELECT transcript:
- List ALL exon IDs (ENSE) with genomic coordinates
- Total exon count

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 3: PROTEIN IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List ALL protein-level identifiers:
- UniProt accessions: ALL entries (reviewed and unreviewed)
  Mark the canonical reviewed entry
- RefSeq protein: ALL NP_ accessions

Protein domains and families:
- List ALL annotated domains/families with identifiers
- Include: domain name, type (domain/family/superfamily), and ID

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 4: STRUCTURE IDENTIFIERS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Experimental structures:
- List ALL PDB structure IDs
- For each: experimental method (X-ray, NMR, Cryo-EM) and resolution
- Total PDB structure count

Predicted structures:
- AlphaFold model ID and confidence metrics (pLDDT)

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 5: CROSS-SPECIES ORTHOLOGS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
List orthologous genes in key model organisms (where available):
- Mouse (Mus musculus): gene ID, symbol
- Rat (Rattus norvegicus): gene ID, symbol
- Zebrafish (Danio rerio): gene ID, symbol
- Fruit fly (Drosophila melanogaster): gene ID, symbol
- Worm (C. elegans): gene ID, symbol
- Yeast (S. cerevisiae): gene ID, symbol

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 6: CLINICAL VARIANTS & AI PREDICTIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Clinical variant annotations:
- Total variant count in clinical databases
- Breakdown by classification: Pathogenic, Likely Pathogenic,
  Uncertain Significance (VUS), Likely Benign, Benign
- List TOP 50 pathogenic/likely pathogenic variants with:
  variant ID, HGVS notation, associated condition

AI-based variant effect predictions:
- Splice effect predictions: Total count
  List TOP 50 predicted splice-altering variants with delta scores
- Missense pathogenicity predictions: Total count
  List TOP 50 predicted pathogenic missense variants with scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 7: BIOLOGICAL PATHWAYS & GENE ONTOLOGY
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Pathway membership:
- List ALL biological pathways this gene participates in
- Include pathway IDs and names
- Total pathway count

Gene Ontology annotations:
- Biological Process: count and TOP 20 terms with IDs
- Molecular Function: count and TOP 20 terms with IDs
- Cellular Component: count and TOP 20 terms with IDs

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 8: PROTEIN INTERACTIONS & MOLECULAR NETWORKS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Protein-protein interactions:
- Total interaction count
- List TOP 50 highest-confidence interacting proteins with scores

Protein similarity (evolutionary and structural):
- Structural/embedding similarity: How many similar proteins?
  List TOP 20 with similarity scores
- Sequence homology: How many homologous proteins?
  List TOP 20 with identity/similarity scores

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 9: TRANSCRIPTION FACTOR REGULATORY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene encodes a transcription factor:

Downstream targets (genes regulated BY this TF):
- Total target gene count
- List TOP 50 target genes with regulation type (activates/represses)

DNA binding profiles:
- List ALL known binding motif IDs
- Motif family classification

Upstream regulators (TFs that regulate THIS gene):
- List known transcriptional regulators with evidence type

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 10: DRUG & PHARMACOLOGY DATA
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
If this gene/protein is a drug target:

Targeting molecules:
- How many drug/compound molecules target this protein?
- List TOP 30 molecules by development phase
- Include: molecule ID, name, mechanism, highest development phase

Clinical trials:
- How many clinical trials involve drugs targeting this gene?
- List TOP 20 trials with: trial ID, phase, status, intervention

Pharmacogenomics:
- Known drug-gene interactions affecting drug response
- Dosing guidelines if any exist

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 11: EXPRESSION PROFILES
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Tissue expression:
- Which tissues express this gene most highly?
- List TOP 30 tissues with expression scores/levels
- Note any tissue-specific or tissue-enriched patterns

Cell type expression:
- Which cell types show highest expression?
- List TOP 30 cell types with expression scores
- Note any cell type-specific patterns

Single-cell expression data (if available):
- Which single-cell datasets/experiments include this gene?
- Notable cell population patterns

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
SECTION 12: DISEASE ASSOCIATIONS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
Mendelian/monogenic disease links:
- What diseases are caused by mutations in this gene?
- List ALL associated diseases with: disease name, disease ID,
  inheritance pattern, evidence level

Phenotype associations:
- What clinical phenotypes are associated with this gene?
- List TOP 50 phenotype terms with IDs

Complex trait associations (GWAS):
- What traits/diseases are linked via genome-wide association studies?
- List TOP 30 GWAS associations with: trait, study ID, p-value,
  effect size if available

━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
FORMATTING REQUIREMENTS
━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━━
- Present each section with clear headers
- Use tables for listing multiple items
- Always include COUNTS for every category
- For lists with >50 items: show total count + TOP 50
- For lists with <50 items: show ALL items
- Always include database identifiers (IDs), not just names
- Mark canonical/primary/reviewed entries where applicable
- If a section has no data available, state "No data available"
  rather than omitting the section

Accepted Answer

Section 1: Gene Identifiers Primary Identifiers
DatabaseIdentifierNotes HGNCHGNC:6342Approved symbol: KIT EnsemblENSG00000157404GRCh38 NCBI Entrez3815 OMIM164920Gene/Locus PharmGKBPA30128VIP Gene Approved Names & Aliases TypeValue Approved NameKIT proto-oncogene, receptor tyrosine kinase Previous Namespiebald trait; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog AliasesCD117, C-Kit, SCFR, PBT, MASTC Alternative NamesMast/stem cell growth factor receptor Kit; Proto-oncogene c-Kit; …

Attribute	Value
Chromosome	4
Cytogenetic Band	4q12
Start Position	54,657,267
End Position	54,740,783
Strand	+ (Plus/Forward)
Gene Length	83,517 bp
Genomic Accession	NC_000004.12

Category	Value
Locus Type	gene with protein product
Locus Group	protein-coding gene
Gene Groups	Receptor tyrosine kinases; CD molecules; Immunoglobulin like domain containing

Transcript ID	Biotype	Start	End
ENST00000288135	protein_coding	54657957	54740715
ENST00000412167	protein_coding	54657923	54740672
ENST00000512959	retained_intron	54729292	54733401
ENST00000514582	retained_intron	54657939	54695906
ENST00000684818	retained_intron	54735322	54740711
ENST00000685269	protein_coding_CDS_not_defined	54658563	54740664
ENST00000685816	protein_coding	54703724	54726038
ENST00000686011	protein_coding	54657942	54740703
ENST00000687109	protein_coding	54657913	54740770
ENST00000687208	protein_coding_CDS_not_defined	54658748	54740697
ENST00000687246	protein_coding	54657947	54740715
ENST00000687265	protein_coding_CDS_not_defined	54665099	54740694
ENST00000687295	protein_coding	54657889	54740783
ENST00000688060	protein_coding_CDS_not_defined	54731763	54740712
ENST00000688704	retained_intron	54729401	54735122
ENST00000689832	protein_coding	54657967	54740676
ENST00000689994	protein_coding	54657267	54740695
ENST00000690519	nonsense_mediated_decay	54658015	54723698
ENST00000690543	protein_coding	54657957	54740698
ENST00000690917	protein_coding_CDS_not_defined	54658945	54740674
ENST00000691361	protein_coding_CDS_not_defined	54716663	54740653
ENST00000692301	retained_intron	54735322	54737592
ENST00000692783	protein_coding	54657923	54740767
ENST00000692991	protein_coding_CDS_not_defined	54658114	54740506
ENST00000895987	protein_coding	54657957	54740709
ENST00000931719	protein_coding	54657946	54740715
ENST00000931720	protein_coding	54657963	54740711
ENST00000931721	protein_coding	54657964	54740711

Accession	Type	Status	MANE Select
NM_000222	mRNA	REVIEWED	✓ MANE Select (Canonical)
NM_001093772	mRNA	REVIEWED
NM_001385284	mRNA	REVIEWED
NM_001385285	mRNA	REVIEWED
NM_001385286	mRNA	REVIEWED
NM_001385288	mRNA	REVIEWED
NM_001385290	mRNA	REVIEWED
NM_001385292	mRNA	REVIEWED

Exon ID	Start	End	Length
ENSE00000000233	54657957	54658081	125 bp
ENSE00001074448	54698284	54698565	282 bp
ENSE00001121859	54699630	54699766	137 bp
ENSE00001074426	54703724	54703892	169 bp
ENSE00001074418	54707098	54707287	190 bp
ENSE00001074452	54709424	54709539	116 bp
ENSE00001074431	54723584	54723698	115 bp
ENSE00001074423	54725857	54726050	194 bp
ENSE00001074410	54727218	54727324	107 bp
ENSE00001074417	54727416	54727542	127 bp
ENSE00001074438	54727823	54727927	105 bp
ENSE00001074408	54728011	54728121	111 bp
ENSE00001074445	54729335	54729485	151 bp
ENSE00003513956	54731328	54731419	92 bp
ENSE00003538116	54731871	54731998	128 bp
ENSE00001032350	54695512	54695781	270 bp
ENSE00001074435	54733070	54733192	123 bp
ENSE00001074442	54736498	54736609	112 bp
ENSE00001224349	54736721	54736820	100 bp
ENSE00001074415	54737175	54737280	106 bp
ENSE00001898693	54738429	54740715	2287 bp

KIT Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Notes
HGNC	HGNC:6342	Approved symbol: KIT
Ensembl	ENSG00000157404	GRCh38
NCBI Entrez	3815
OMIM	164920	Gene/Locus
PharmGKB	PA30128	VIP Gene

Type	Value
Approved Name	KIT proto-oncogene, receptor tyrosine kinase
Previous Names	piebald trait; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Aliases	CD117, C-Kit, SCFR, PBT, MASTC
Alternative Names	Mast/stem cell growth factor receptor Kit; Proto-oncogene c-Kit; Tyrosine-protein kinase Kit; p145 c-kit

Accession	Status	Notes
P10721	✓ Reviewed (Swiss-Prot)	Canonical entry
A0A0U2N547	Unreviewed (TrEMBL)
A0A8I5KPX7	Unreviewed (TrEMBL)
A0A8I5KQZ6	Unreviewed (TrEMBL)
A0A8I5KR87	Unreviewed (TrEMBL)
A0A8I5KRE7	Unreviewed (TrEMBL)
A0A8I5KS03	Unreviewed (TrEMBL)
A0A8I5KXA4	Unreviewed (TrEMBL)
A0A8I5QKL5	Unreviewed (TrEMBL)
A0A8I5QKP7	Unreviewed (TrEMBL)
A0A8J8Z860	Unreviewed (TrEMBL)

Property	Value
Name	Mast/stem cell growth factor receptor Kit
Length	976 amino acids
Mass	109,865 Da
EC Number	2.7.10.1 (Receptor protein-tyrosine kinase)

Accession	Status	MANE Select
NP_000213	REVIEWED	✓ MANE Select
NP_001087241	REVIEWED
NP_001372213	REVIEWED
NP_001372214	REVIEWED
NP_001372215	REVIEWED
NP_001372217	REVIEWED
NP_001372219	REVIEWED
NP_001372221	REVIEWED

InterPro ID	Name	Type
IPR027263	SCGF_receptor	Family
IPR050122	RTK (Receptor Tyrosine Kinase)	Family
IPR000719	Prot_kinase_dom	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013151	Immunoglobulin_dom	Domain
IPR020635	Tyr_kinase_cat_dom	Domain
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR001824	Tyr_kinase_rcpt_3_CS	Conserved_site
IPR008266	Tyr_kinase_AS	Active_site
IPR017441	Protein_kinase_ATP_BS	Binding_site

PDB ID	Title	Method	Resolution
8PQD	c-KIT kinase domain with avapritinib derivative 10	X-ray	1.50 Å
8S14	c-KIT kinase domain with sunitinib	X-ray	1.50 Å
1T46	c-KIT autoinhibition and STI-571 inhibition	X-ray	1.60 Å
3G0E	KIT kinase domain with sunitinib	X-ray	1.60 Å
8PQA	c-KIT kinase domain with avapritinib derivative 4	X-ray	1.65 Å
8PQ9	c-KIT kinase domain with avapritinib	X-ray	1.70 Å
8PQC	c-KIT kinase domain with avapritinib derivative 9	X-ray	1.77 Å
6MOB	KIT with DP2976	X-ray	1.80 Å
8S16	c-KIT kinase domain with imatinib	X-ray	1.85 Å
8S1A	c-KIT kinase domain with crenolanib	X-ray	1.85 Å
8PQB	c-KIT kinase domain with avapritinib derivative 8	X-ray	1.87 Å
6ITV	Activated c-KIT with compound	X-ray	1.88 Å
1T45	c-KIT autoinhibition and STI-571 inhibition	X-ray	1.90 Å
4HVS	KIT kinase domain with PLX647	X-ray	1.90 Å
8PQF	c-KIT kinase domain with avapritinib derivative 12	X-ray	1.90 Å
4U0I	KIT with ponatinib	X-ray	2.00 Å
6GQM	c-KIT kinase domain with AZD3229	X-ray	2.00 Å
8S13	apo c-KIT-wt kinase domain	X-ray	2.00 Å
8S1B	c-KIT kinase domain with IDRX-42	X-ray	2.00 Å
8PQE	c-KIT kinase domain with avapritinib derivative 11	X-ray	2.00 Å
6GQL	c-KIT kinase domain with AZD3229-analogue 35	X-ray	2.01 Å
6ITT	Unactivated c-KIT with compound	X-ray	2.10 Å
8S18	c-KIT kinase domain with S116836	X-ray	2.10 Å
6KLA	c-KIT kinase domain with compound 15a	X-ray	2.11 Å
7ZW8	c-KIT with M4205 inhibitor	X-ray	2.12 Å
7KHG	KIT kinase domain with PLX3397	X-ray	2.15 Å
6XVB	c-KIT with cyclic imidate inhibitor	X-ray	2.15 Å
2IUH	PI3-kinase p85 SH2 with c-Kit phosphopeptide	X-ray	2.00 Å
8S17	c-KIT kinase domain with ponatinib	X-ray	2.20 Å
6HH1	c-Kit with allosteric inhibitor 3G8	X-ray	2.25 Å
6XVA	c-KIT kinase domain with type-II inhibitor	X-ray	2.30 Å
8S19	c-KIT kinase domain with staurosporine	X-ray	2.30 Å
6GQK	c-KIT kinase domain with AZD3229-analogue 23	X-ray	2.31 Å
6GQJ	c-KIT kinase domain with AZD3229-analogue 18	X-ray	2.33 Å
7KHK	KIT kinase domain with PLX9486 (bezuclastinib)	X-ray	2.34 Å
8S15	c-KIT kinase domain with nintedanib	X-ray	2.40 Å
4K94	KIT D4D5 fragment with anti-Kit Fab19	X-ray	2.40 Å
4PGZ	KIT activation by oncogenic mutations	X-ray	2.40 Å
8PQG	c-KIT T670I mutant with avapritinib	X-ray	2.40 Å
3G0F	KIT kinase domain mutant D816H with sunitinib	X-ray	2.60 Å
4K9E	KIT D4D5 with anti-Kit Fab79D	X-ray	2.70 Å
7KHJ	KIT kinase domain with PLX8512	X-ray	2.80 Å
9H71	KIT123-KITbp complex	X-ray	2.80 Å
1PKG	c-Kit Kinase Product Complex	X-ray	2.90 Å
2EC8	KIT extracellular domain	X-ray	3.00 Å
7ZY6	c-KIT with M4205	X-ray	3.09 Å
8DFP	KIT(DupA502,Y503)-SCF dimers ectodomain	Cryo-EM	3.17 Å
6XV9	c-KIT kinase domain with type-II inhibitor	X-ray	3.38 Å
8DFM	Wild-type KIT-SCF dimers ectodomain	Cryo-EM	3.45 Å
2E9W	KIT extracellular domain with SCF	X-ray	3.50 Å
8DFQ	KIT(T417I,delta418-419)-SCF dimers	Cryo-EM	3.96 Å
2VIF	SOCS6 SH2 domain with c-KIT phosphopeptide	X-ray	1.45 Å

Organism	Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000005672	Kit	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000002227	Kit	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000043317	kita	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000056133	kitb	protein_coding

Classification	Count
Pathogenic	69
Likely Pathogenic	37
Uncertain Significance (VUS)	~2,900+
Likely Benign	Multiple
Benign	Multiple

Variant ID	HGVS Notation	Type	Review Status
13863	c.2446G>C (p.Asp816His)	SNV	Multiple submitters
13866	c.1924A>G (p.Lys642Glu)	SNV	Multiple submitters
375928	c.2458G>T (p.Asp820Tyr)	SNV	Multiple submitters
458885	c.1670G>A (p.Trp557Ter)	SNV	Multiple submitters
949598	c.568C>T (p.Gln190Ter)	SNV	Multiple submitters
1331201	c.120_123dup (p.Gly42fs)	Microsatellite	Multiple submitters
13843	c.1990G>A (p.Gly664Arg)	SNV	Pathogenic
13846	c.1676_1681del (p.Val559_Val560del)	Deletion	Pathogenic
13847	c.1925_1926del (p.Lys642fs)	Deletion	Pathogenic
13848	c.1681dup (p.Glu561fs)	Duplication	Pathogenic
13850	c.253del (p.Glu85fs)	Deletion	Pathogenic
13851	c.1879+1G>A	Splice site	Single submitter
13854	c.1652_1666del (p.Pro551_Val555del)	Deletion	Pathogenic
13855	c.1649_1663del (p.Lys550_Val555delinsIle)	Deletion	Pathogenic
13856	c.1676T>A (p.Val559Asp)	SNV	Pathogenic
13858	c.2386A>G (p.Arg796Gly)	SNV	Pathogenic
13861	c.2539A>C (p.Thr847Pro)	SNV	Pathogenic
13862	c.2515G>A (p.Glu839Lys)	SNV	Pathogenic
13864	c.1751T>G (p.Phe584Cys)	SNV	Pathogenic
35502	c.1859T>C (p.Val620Ala)	SNV	Pathogenic
375913	c.1676TTG[1] (p.Val560del)	Microsatellite	Pathogenic
375923	c.1965T>A (p.Asn655Lys)	SNV	Single submitter
375930	c.2465A>T (p.Asn822Ile)	SNV	Pathogenic
545643	c.1598C>A (p.Ala533Asp)	SNV	Pathogenic
1071467	c.1126G>T (p.Glu376Ter)	SNV	Single submitter
1299653	c.2415_2422del (p.Thr806fs)	Deletion	Single submitter
1331512	c.21_22del (p.Trp8fs)	Deletion	Single submitter
1368363	c.1000_1003dup (p.Val335fs)	Duplication	Single submitter
1405140	c.364del (p.Arg122fs)	Deletion	Single submitter
1450203	c.2080C>T (p.Gln694Ter)	SNV	Single submitter
1451251	c.1482C>A (p.Tyr494Ter)	SNV	Single submitter
1451608	c.1666C>T (p.Gln556Ter)	SNV	Single submitter
1452413	c.366_369del (p.Ser123fs)	Deletion	Single submitter
2033857	c.761_765del (p.Lys254fs)	Deletion	Single submitter
2043850	c.32_33insG (p.Cys12fs)	Insertion	Single submitter
2126350	c.828_832dup (p.Ser278fs)	Duplication	Single submitter
2203546	c.2139del (p.Cys714fs)	Deletion	Single submitter
2442396	c.237del (p.Asn80fs)	Deletion	Single submitter
2706578	c.1494del (p.Lys499fs)	Deletion	Single submitter
2757884	c.86_87del (p.Val29fs)	Microsatellite	Single submitter
2770878	c.2446_2447del (p.Asp816fs)	Microsatellite	Single submitter
280912	c.2591_2594del (p.Phe863_Ser864insTer)	Deletion	Single submitter
2817055	c.1253_1254insAA (p.Tyr418Ter)	Insertion	Single submitter
2849144	c.959del (p.Asn320fs)	Deletion	Single submitter
2865541	c.673del (p.Glu225fs)	Deletion	Single submitter
3014468	c.604del (p.Ile201_Leu202insTer)	Deletion	Single submitter
3066083	c.2700T>A (p.Tyr900Ter)	SNV	Single submitter
3342507	c.2484+1G>A	Splice site	Single submitter
3638245	c.2514_2515dup (p.Glu839fs)	Duplication	Single submitter
3698398	c.1281dup (p.Cys428fs)	Duplication	Single submitter

CCDS ID
CCDS3496 (canonical)
CCDS47058
CCDS93527
CCDS93528
CCDS93529
CCDS93530
CCDS93531
CCDS93532

Variant	Effect	Delta Score
4:54658077:GACAG>G	donor_gain	0.97
4:54658078:ACAGG>A	donor_loss	0.98
4:54658079:CAGGT>C	donor_loss	0.98
4:54658080:AGG>A	donor_loss	0.98
4:54658081:GG>G	donor_loss	0.98
4:54658082:GTGG>G	donor_loss	0.98
4:54658083:T>A	donor_loss	0.98
4:54658145:T>TA	donor_gain	0.98
4:54658146:G>GA	donor_gain	0.99
4:54658144:G>T	donor_gain	0.93
4:54658288:T>TA	donor_gain	0.94
4:54658289:G>GA	donor_gain	0.95
4:54658007:C>G	donor_gain	0.92
4:54658015:A>G	donor_gain	0.91
4:54658226:T>TA	donor_gain	0.91

Position	Variant	Score	Classification
4:54695616:T>C	C58R	0.988	likely_pathogenic
4:54695616:T>A	C58S	0.994	likely_pathogenic
4:54695617:G>A	C58Y	0.988	likely_pathogenic
4:54695618:C>G	C58W	0.988	likely_pathogenic
4:54695733:T>A	C97S	0.997	likely_pathogenic
4:54695733:T>C	C97R	0.992	likely_pathogenic
4:54695734:G>A	C97Y	0.992	likely_pathogenic
4:54695735:C>G	C97W	0.993	likely_pathogenic
4:54695642:G>C	W66C	0.997	likely_pathogenic
4:54695640:T>A	W66R	0.995	likely_pathogenic
4:54695727:T>G	Y95D	0.995	likely_pathogenic
4:54695770:T>A	V109E	0.986	likely_pathogenic
4:54695776:T>A	V111D	0.993	likely_pathogenic
4:54695641:G>C	W66S	0.984	likely_pathogenic
4:54695772:T>C	F110L	0.984	likely_pathogenic
4:54695611:T>C	L56P	0.983	likely_pathogenic
4:54695617:G>T	C58F	0.976	likely_pathogenic
4:54695727:T>A	Y95N	0.976	likely_pathogenic
4:54695773:T>G	F110C	0.969	likely_pathogenic
4:54695727:T>C	Y95H	0.965	likely_pathogenic
4:54695721:G>T	G93C	0.961	likely_pathogenic
4:54695722:G>A	G93D	0.950	likely_pathogenic
4:54695733:T>G	C97G	0.978	likely_pathogenic
4:54695722:G>T	G93V	0.943	likely_pathogenic
4:54695616:T>G	C58G	0.943	likely_pathogenic
4:54695690:G>C	W82C	0.938	likely_pathogenic
4:54695776:T>G	V111G	0.932	likely_pathogenic
4:54695611:T>A	L56Q	0.932	likely_pathogenic
4:54695640:T>G	W66G	0.926	likely_pathogenic
4:54695740:A>T	N99I	0.915	likely_pathogenic
4:54695611:T>G	L56R	0.909	likely_pathogenic
4:54695770:T>G	V109G	0.905	likely_pathogenic
4:54695704:C>A	A87E	0.897	likely_pathogenic
4:54695773:T>C	F110S	0.895	likely_pathogenic
4:54695775:G>T	V111F	0.894	likely_pathogenic
4:54695741:C>A	N99K	0.888	likely_pathogenic
4:54695641:G>T	W66L	0.886	likely_pathogenic
4:54695776:T>C	V111A	0.871	likely_pathogenic
4:54695688:T>A	W82R	0.865	likely_pathogenic
4:54695605:T>G	I54S	0.861	likely_pathogenic

Pathway ID	Pathway Name	Disease Pathway
R-HSA-1433557	Signaling by SCF-KIT	No
R-HSA-1433559	Regulation of KIT signaling	No
R-HSA-1257604	PIP3 activates AKT signaling	No
R-HSA-5673001	RAF/MAP kinase cascade	No
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	No
R-HSA-8866910	TFAP2 family regulates transcription of growth factors	No
R-HSA-9856649	Transcriptional regulation of MITF-M	No
R-HSA-9927418	Developmental Lineage of Mammary Gland Luminal Cells	No
R-HSA-9927426	Developmental Lineage of Mammary Gland Alveolar Cells	No
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer	Yes
R-HSA-9669914	Dasatinib-resistant KIT mutants	Yes
R-HSA-9669917	Imatinib-resistant KIT mutants	Yes
R-HSA-9669921	KIT mutants bind TKIs	Yes
R-HSA-9669924	Masitinib-resistant KIT mutants	Yes
R-HSA-9669926	Nilotinib-resistant KIT mutants	Yes
R-HSA-9669929	Regorafenib-resistant KIT mutants	Yes
R-HSA-9669933	Signaling by kinase domain mutants of KIT	Yes
R-HSA-9669934	Sunitinib-resistant KIT mutants	Yes
R-HSA-9669935	Signaling by juxtamembrane domain KIT mutants	Yes
R-HSA-9669936	Sorafenib-resistant KIT mutants	Yes
R-HSA-9670439	Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants	Yes
R-HSA-9680187	Signaling by extracellular domain mutants of KIT	Yes

GO ID	Term Name
GO:0004713	protein tyrosine kinase activity
GO:0004714	transmembrane receptor protein tyrosine kinase activity
GO:0005020	stem cell factor receptor activity
GO:0005524	ATP binding
GO:0002020	protease binding
GO:0019838	growth factor binding
GO:0019955	cytokine binding
GO:0042169	SH2 domain binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding

GO ID	Term Name
GO:0038109	Kit signaling pathway
GO:0030097	hemopoiesis
GO:0002244	hematopoietic progenitor cell differentiation
GO:0030318	melanocyte differentiation
GO:0060374	mast cell differentiation
GO:0043303	mast cell degranulation
GO:0002551	mast cell chemotaxis
GO:0070662	mast cell proliferation
GO:0070668	positive regulation of mast cell proliferation
GO:0032765	positive regulation of mast cell cytokine production
GO:0007283	spermatogenesis
GO:0007286	spermatid development
GO:0008584	male gonad development
GO:0008354	germ cell migration
GO:0035234	ectopic germ cell programmed cell death
GO:0001541	ovarian follicle development
GO:0019827	stem cell population maintenance
GO:0035019	somatic stem cell population maintenance
GO:0048863	stem cell differentiation
GO:0035701	hematopoietic stem cell migration

GO ID	Term Name
GO:0005886	plasma membrane
GO:0009897	external side of plasma membrane
GO:0009898	cytoplasmic side of plasma membrane
GO:0005911	cell-cell junction
GO:0005615	extracellular space
GO:0001650	fibrillar center
GO:0001669	acrosomal vesicle
GO:0043235	receptor complex

Interacting Protein	UniProt	Score
KITLG (SCF)	P21583	999
CLNK	Q9Y240	993
SDF1 (CXCL12)	P48061	972
CD34	P28906	953
IL3	P08700	944
ANPEP (CD13)	P15144	919
IL4I1	Q9NPH3	919
CD33	P20138	897
MAPK14	Q5XXA6	891
FYN	P29354	887
PTPRC (CD45)	P08575	881
CBL	P49771	860
SCF	P13232	826
GRB7	P30991	824
ENG	P17813	817
RAC2	P09564	815
NRAS	P01111	813
CD24	P09326	813
PIK3CA	P42336	810
IL5RA	Q01638	805
AKT1	P31749	804
SLAM	Q13291	800
EPOR	P19235	799
ITGAM	P11215	795
HGF	P14210	793
TSLP	Q6N021	786
CD44	P16070	785
CD19	P15391	782
FCN3	O75015	780
THY1 (CD90)	P04216	779
FCGR3A	P08637	778
FN1	P02751	777
IL6	P05231	775
TFRC (CD71)	P02786	773
GNA11	P29992	773
PECAM1	P16284	772
IL7R	P16871	772
SFTPD	P50549	772
NCAM1	P13591	770
CSF2	P04141	769
PROM1 (CD133)	O43490	768
KRAS	P01116	768
TP53	P04637	767
MITF	O75030	765
CD4	P01730	763
RUNX1	Q01196	763
TPO	P40225	756
PTPN11	Q06124	755
MUSK	Q01726	752
CSF1	P09603	746

UniProt ID	Top Similarity	Avg Similarity
O60674	1.0000	0.9903
P09581 (RET)	1.0000	0.9939
P43481 (KIT pig)	1.0000	0.9955
Q00495	1.0000	0.9939
Q14982	1.0000	0.9899
P60029	1.0000	0.9901
P16234 (PDGFRA)	0.9998	0.9951
P05622 (PDGFRB)	0.9999	0.9945
O97799	0.9998	0.9957
P35918 (VEGFR2)	0.9998	0.9942
P09619 (PDGFRB)	0.9996	0.9939
P35968 (VEGFR2)	0.9993	0.9938
P07333 (CSF1R)	0.9995	0.9911
P20786 (FLT3)	0.9999	0.9954
P26618 (FLT4)	0.9999	0.9954
P05532	0.9993	0.9949
O08775 (Kit mouse)	0.9998	0.9943

UniProt ID	Top Identity	BitScore
P35917 (FLT4 human)	95.9%	2650
P35918 (KDR human)	95.2%	2582
O08775 (Kit mouse)	95.2%	2575
Q91ZT1 (Kdr mouse)	95.9%	2645
P53767 (Flt4 mouse)	92.6%	2469
P35969 (Kdr mouse)	92.6%	2469
P35916 (Flt3 human)	86.8%	2385
P35968 (KDR human)	85.8%	2335
P17948 (FLT1 human)	82.4%	2236
G3V9H8	94.4%	2149
P35546	94.4%	2146
P05622 (PDGFRB human)	96.6%	2091
Q05030	96.6%	2091
P20786 (FLT3 human)	96.0%	2051
P26618 (FLT4 human)	96.0%	2050
Q02858 (CD74 human)	92.2%	1971
P16234 (PDGFRA human)	91.9%	1964

Transcription Factor	Regulation	Confidence
MITF	Activation	High
GATA2	Activation	High
RUNX1	Activation	High
SOHLH1	Activation	High
SOHLH2	Activation	High
FOXC1	Unknown	High
NFKB	Unknown	High
SOX2	Unknown	High
ZBTB16	Unknown	High
ZNF16	Unknown	High
ZNF266	Unknown	High
FUBP1	Activation	-
CDH3	Activation	-
GATA1	Repression	Low
DAB2IP	Repression	-
GAS2L1	Repression	-
RBMX	Repression	-
MYB	Unknown	-
MYC	Unknown	-
IKZF1	Unknown	-
SP1	Unknown	Low
SPI1	Unknown	-
TFAP2A	Unknown	Low
TP53	Unknown	-
WT1	Unknown	Low
MLXIP	Unknown	Low
SALL4	Unknown	Low

Target ID	Name	Type
CHEMBL1936	Mast/stem cell growth factor receptor Kit	SINGLE PROTEIN
CHEMBL2111428	VEGF-receptor 2 and stem cell growth factor receptor (KDR and KIT)	SELECTIVITY GROUP
CHEMBL4523731	von Hippel-Lindau/KIT	PROTEIN-PROTEIN INTERACTION
CHEMBL4630731	Cereblon/Stem cell growth factor receptor	PROTEIN-PROTEIN INTERACTION

ChEMBL ID	Drug Name	Type
CHEMBL941	IMATINIB	Small molecule
CHEMBL1642	IMATINIB MESYLATE	Small molecule
CHEMBL535	SUNITINIB	Small molecule
CHEMBL1946170	REGORAFENIB	Small molecule
CHEMBL4204794	AVAPRITINIB	Small molecule
CHEMBL4216467	RIPRETINIB	Small molecule
CHEMBL1336	SORAFENIB	Small molecule
CHEMBL1421	DASATINIB ANHYDROUS	Small molecule
CHEMBL5416410	DASATINIB	Small molecule
CHEMBL255863	NILOTINIB	Small molecule
CHEMBL1171837	PONATINIB	Small molecule
CHEMBL477772	PAZOPANIB	Small molecule
CHEMBL1289926	AXITINIB	Small molecule
CHEMBL1289494	TIVOZANIB	Small molecule
CHEMBL24828	VANDETANIB	Small molecule
CHEMBL601719	CRIZOTINIB	Small molecule
CHEMBL608533	MIDOSTAURIN	Small molecule
CHEMBL502835	NINTEDANIB	Small molecule
CHEMBL288441	BOSUTINIB	Small molecule
CHEMBL2403108	CERITINIB	Small molecule
CHEMBL1983268	ENTRECTINIB	Small molecule
CHEMBL3545311	BRIGATINIB	Small molecule
CHEMBL3813873	PEXIDARTINIB	Small molecule
CHEMBL2105717	CABOZANTINIB	Small molecule
CHEMBL576982	QUIZARTINIB	Small molecule
CHEMBL939	GEFITINIB	Small molecule
CHEMBL553	ERLOTINIB	Small molecule
CHEMBL1287853	FEDRATINIB	Small molecule
CHEMBL1789941	RUXOLITINIB	Small molecule
CHEMBL1448	NICLOSAMIDE	Small molecule
CHEMBL1834657	INFIGRATINIB PHOSPHATE	Small molecule
CHEMBL1852688	INFIGRATINIB	Small molecule

Drug	Indication	Status
Imatinib	First-line GIST	FDA Approved
Sunitinib	Imatinib-resistant GIST	FDA Approved
Regorafenib	Third-line GIST	FDA Approved
Avapritinib	PDGFRA D842V mutant GIST	FDA Approved
Ripretinib	Fourth-line GIST	FDA Approved

Attribute	Value
PharmGKB ID	PA30128
VIP Gene	Yes (Very Important Pharmacogene)
Has Variant Annotations	Yes
CPIC Dosing Guideline	No

Attribute	Value
Expression Breadth	Ubiquitous
Total Present Calls	263
Max Expression Score	97.14

Tissue	Score	Quality
Lateral nuclear group of thalamus	97.14	Gold
Secondary oocyte	97.04	Gold
Oocyte	96.24	Gold
Upper leg skin	95.73	Gold
Epithelium of mammary gland	94.60	Gold
Primordial germ cell in gonad	94.42	Gold
Mammary duct	94.07	Gold
Cardia of stomach	93.91	Gold
Parotid gland	92.70	Gold
Cortical plate	92.61	Gold
Skin of hip	92.39	Gold
Visceral pleura	92.24	Gold
Mammary gland	92.04	Gold
Thoracic mammary gland	92.03	Gold
Nipple	91.73	Gold
Pylorus	91.55	Gold
Mucosa of stomach	91.20	Gold
Upper arm skin	91.00	Gold
Ventral tegmental area	90.70	Gold
Nasal cavity epithelium	90.66	Gold
CA1 field of hippocampus	90.57	Gold
Orbitofrontal cortex	90.14	Gold
Palpebral conjunctiva	90.06	Gold
Lower esophagus muscularis layer	90.06	Gold
Lower esophagus	89.97	Gold
Renal medulla	89.73	Gold
Penis	89.52	Gold
Thalamus	89.27	Gold
Gall bladder	89.01	Gold
Vulva	88.90	Gold

Dataset ID	Description	Cells
E-GEOD-131882	Single Cell Transcriptomics of Human Diabetic Nephropathy	43,748
E-GEOD-130148	Lung Cell Atlas (Drop-seq)	14,560
E-MTAB-6678	First trimester fetal-maternal interface	7,598
E-MTAB-9067	Foetal liver and bone marrow haematopoiesis	5,865
E-GEOD-76312	Cancer stem cells from CML patients	2,151
E-CURD-6	Human bone marrow differentiation hierarchy	1,024
E-CURD-7	Adult Human Breast Epithelial Cells	867
E-ENAD-21	Adult human breast epithelial cells	867
E-ENAD-20	PDX model before/after BRAF/MEK inhibitors	674
E-GEOD-70580	Human tonsil innate lymphoid cells	648
E-MTAB-9801	Emergent haematopoiesis in human fetal bone marrow	486
E-GEOD-81383	Human melanoma cell lines	226

Disease	Classification	Inheritance	Evidence Source
Piebaldism	Definitive	Autosomal dominant	Ambry, G2P, Invitae
Piebaldism	Strong	Autosomal dominant	Genomics England
Gastrointestinal stromal tumor	Strong	Autosomal dominant	Multiple submitters
Mastocytosis	Strong	Autosomal dominant	Genomics England, Invitae
Mastocytosis	Moderate	Autosomal dominant	Ambry

Orphanet ID	Disease Name	Type
2884	Piebaldism	Disease
44890	Gastrointestinal stromal tumor	Disease
79455	Cutaneous mastocytoma	Disease
158766	Typical urticaria pigmentosa	Clinical subtype
158769	Plaque-form urticaria pigmentosa	Clinical subtype
158772	Nodular urticaria pigmentosa	Clinical subtype
158775	Smoldering systemic mastocytosis	Disease
158778	Isolated bone marrow mastocytosis	Disease
280785	Bullous diffuse cutaneous mastocytosis	Clinical subtype
280794	Pseudoxanthomatous diffuse cutaneous mastocytosis	Clinical subtype
566393	Acute mast cell leukemia	Clinical subtype
566396	Chronic mast cell leukemia	Clinical subtype
90389	Telangiectasia macularis eruptiva perstans	Clinical subtype
98829	AML with inv(16) or t(16;16)	Disease
98834	Acute myeloblastic leukemia with maturation	Disease
98849	Systemic mastocytosis with hematologic neoplasm	Disease
102724	AML with t(8;21)	Disease
842	Testicular seminomatous germ cell tumor	Disease

HPO ID	Phenotype
HP:0000006	Autosomal dominant inheritance
HP:0007544	Piebald skin depigmentation
HP:0001053	Hypopigmented skin patches
HP:0007443	Partial albinism
HP:0002211	White forelock
HP:0002226	White eyebrow
HP:0002227	White eyelashes
HP:0005599	Hypopigmentation of hair
HP:0001100	Heterochromia iridis
HP:0007542	Absent pigmentation of the ventral chest
HP:0000989	Pruritus
HP:0001025	Urticaria
HP:0007583	Telangiectasia macularis eruptiva perstans
HP:0025081	Darier's sign
HP:0011971	Dermatographic urticaria
HP:0000953	Hyperpigmentation of the skin
HP:0001034	Hypermelanotic macule
HP:0007400	Irregular hyperpigmentation
HP:0005587	Profuse pigmented skin lesions
HP:0001744	Splenomegaly
HP:0002240	Hepatomegaly
HP:0001903	Anemia
HP:0001873	Thrombocytopenia
HP:0004808	Acute myeloid leukemia
HP:0005547	Myeloproliferative disorder
HP:0012324	Myeloid leukemia
HP:0004377	Hematological neoplasm
HP:0002863	Myelodysplasia
HP:0012138	Granulocytic hyperplasia
HP:0001880	Increased total eosinophil count
HP:0001974	Increased total leukocyte count
HP:0011897	Increased total neutrophil count
HP:0007378	Neoplasm of the gastrointestinal tract
HP:0006753	Neoplasm of the stomach
HP:0002239	Gastrointestinal hemorrhage
HP:0005214	Intestinal obstruction
HP:0002027	Abdominal pain
HP:0002014	Diarrhea
HP:0002019	Constipation
HP:0002017	Nausea and vomiting
HP:0000939	Osteoporosis
HP:0002653	Bone pain
HP:0002659	Increased susceptibility to fractures
HP:0001279	Syncope
HP:0001945	Fever
HP:0012378	Fatigue
HP:0001824	Weight loss
HP:0002094	Dyspnea
HP:0000027	Azoospermia
HP:0003745	Sporadic

Study ID	Trait	P-value
GCST006011_105	Mean corpuscular volume	3×10⁻¹²⁶
GCST005993_89	Mean corpuscular hemoglobin	6×10⁻¹⁰⁹
GCST005996_35	Red blood cell count	1×10⁻⁹³
GCST001765_23	Red blood cell traits	3×10⁻³⁹
GCST000585_17	Mean corpuscular volume	1×10⁻²⁷
GCST004008_7	Red blood cell count	2×10⁻²⁸
GCST002698_1	Serum VEGFR2 concentration	5×10⁻²⁵
GCST005994_20	Hematocrit	2×10⁻²⁰
GCST90002399_170	Neutrophil percentage	6×10⁻²⁰
GCST004008_2	Red blood cell count	4×10⁻¹⁶
GCST005995_8	Hemoglobin	6×10⁻¹⁶
GCST000503_15	Mean corpuscular volume	1×10⁻¹⁵
GCST005754_1	Systemic lupus erythematosus	1×10⁻¹⁵
GCST010988_444	Adult body size	2×10⁻¹³
GCST004335_10	Mean corpuscular volume	9×10⁻¹³
GCST010242_229	HDL cholesterol levels	1×10⁻¹²
GCST004334_1	Mean corpuscular hemoglobin	3×10⁻¹²
GCST010244_336	Triglyceride levels	9×10⁻¹²
GCST004332_4	Red blood cell count	4×10⁻¹⁰
GCST010241_181	Apolipoprotein A1 levels	5×10⁻⁹
GCST005991_10	Platelet count	7×10⁻⁹
GCST004003_9	Hematocrit	1×10⁻⁸
GCST004005_13	Hemoglobin levels	1×10⁻⁸
GCST004006_30	Mean corpuscular hemoglobin	1×10⁻⁸
GCST003050_20	Schizophrenia	5×10⁻⁷
GCST010658_7	HDL cholesterol levels	5×10⁻⁷
GCST006576_1	Anorexia nervosa or OCD	4×10⁻⁷
GCST002936_29	Cadmium levels	1×10⁻⁶
GCST000387_12	Bipolar disorder	4×10⁻⁶
GCST002715_9	Breastfeeding duration	9×10⁻⁶
GCST010660_9	Triglyceride levels	3×10⁻⁶

Category	Count
Gene Aliases	5
Ensembl Transcripts	28
RefSeq mRNA Transcripts	8
CCDS Identifiers	8
Exons (Canonical)	21
UniProt Entries	11
InterPro Domains	15
PDB Structures	52
ClinVar Variants	3,286
Pathogenic Variants	69
Likely Pathogenic Variants	37
SpliceAI Predictions	3,727
AlphaMissense Predictions	6,468
Reactome Pathways	22
GO Terms	88
STRING Interactions	5,408+
IntAct Interactions	488+
ESM2 Similar Proteins	164
DIAMOND Similar Proteins	101+
Upstream TF Regulators	27
Approved Drugs (Phase 4)	32
Disease Associations (GenCC)	12
Disease Associations (Orphanet)	18
HPO Phenotypes	121
GWAS Associations	32
scRNA-seq Datasets	12
Bgee Expression Calls	263