Provide a comprehensive cross-database identifier and functional mapping reference for human ABL1. 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 ABL1. 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
DatabaseIdentifierDetails HGNCHGNC:76Approved symbol: ABL1 EnsemblENSG00000097007GRCh38 NCBI Entrez25Gene ID OMIM189980Gene/Locus RefSeq GenomicNC_000009.12Chromosome 9 Genomic Location (GRCh38) AttributeValue Chromosome9 Cytogenetic Band9q34.12 Start Position130,713,043 End Position130,887,675 Strand+ (forward) Gene Span~174.6 kb Gene Names & Aliases Approved Name: ABL proto-oncogene 1, non-receptor tyrosine kinase Previous Symbols: ABL Aliases: JTK7, c-ABL, p150, …

Transcript ID	Biotype	Start	End	UTR5	UTR3
ENST00000372348	protein_coding	130,713,043	130,887,675	130,713,043-130,714,319	130,885,684-130,887,675
ENST00000318560	protein_coding	130,835,254	130,887,675	130,835,254-130,835,446	130,885,684-130,887,675
ENST00000393293	protein_coding	130,713,980	130,854,122	130,713,980-130,714,319	None
ENST00000929253	protein_coding	130,835,239	130,887,675	130,835,239-130,835,446	130,885,684-130,887,675
ENST00000929254	protein_coding	130,835,265	130,887,675	130,835,265-130,835,446	130,885,684-130,887,675
ENST00000929255	protein_coding	130,835,304	130,887,672	130,835,304-130,835,446	130,885,684-130,887,672

Accession	Type	Status	MANE Select
NM_005157	mRNA	REVIEWED	Yes (Canonical)
NM_007313	mRNA	REVIEWED	No

Accession	Type	Status	Canonical
NP_005148	protein	REVIEWED	Yes
NP_009297	protein	REVIEWED	No

Exon ID	Start	End	Strand
ENSE00001457586	130,713,043	130,714,455	+
ENSE00000984287	130,854,064	130,854,237	+
ENSE00002690665	130,854,801	130,855,096	+
ENSE00002065214	130,862,763	130,863,035	+
ENSE00001726283	130,872,129	130,872,213	+
ENSE00001700841	130,872,860	130,873,037	+
ENSE00001758713	130,874,868	130,875,052	+
ENSE00001741732	130,878,415	130,878,567	+
ENSE00001715343	130,880,068	130,880,157	+
ENSE00001781962	130,880,500	130,880,664	+
ENSE00001938256	130,883,969	130,887,675	+

Accession	Status
NP_005148	REVIEWED (Canonical)
NP_009297	REVIEWED

ABL1 Gene Complete Identifier and Functional Mapping Reference

Structured Data Sources

Database	Identifier	Details
HGNC	HGNC:76	Approved symbol: ABL1
Ensembl	ENSG00000097007	GRCh38
NCBI Entrez	25	Gene ID
OMIM	189980	Gene/Locus
RefSeq Genomic	NC_000009.12	Chromosome 9

Attribute	Value
Chromosome	9
Cytogenetic Band	9q34.12
Start Position	130,713,043
End Position	130,887,675
Strand	+ (forward)
Gene Span	~174.6 kb

InterPro ID	Name	Type
IPR000719	Prot_kinase_dom	Domain
IPR000980	SH2	Domain
IPR001245	Ser-Thr/Tyr_kinase_cat_dom	Domain
IPR001452	SH3_domain	Domain
IPR008266	Tyr_kinase_AS	Active_site
IPR011009	Kinase-like_dom_sf	Homologous_superfamily
IPR015015	F-actin-binding	Domain
IPR017441	Protein_kinase_ATP_BS	Binding_site
IPR020635	Tyr_kinase_cat_dom	Domain
IPR035837	ABL_SH2	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR036860	SH2_dom_sf	Homologous_superfamily
IPR050198	Non-receptor_tyrosine_kinases	Family

PDB ID	Method	Resolution	Title
1AB2	NMR	-	SH2 domain of c-ABL
1AWO	NMR	-	ABL SH3 domain solution structure
1BBZ	X-ray	1.65 Å	ABL-SH3 domain with peptide ligand
1OPL	X-ray	3.42 Å	Auto-inhibited c-Abl tyrosine kinase
2ABL	X-ray	2.5 Å	SH3-SH2 domain fragment
2E2B	X-ray	2.2 Å	c-Abl kinase with INNO-406
2F4J	X-ray	1.91 Å	Imatinib-resistant mutant with VX-680
2G1T	X-ray	1.8 Å	Src-like inactive conformation
2GQG	X-ray	2.4 Å	Dasatinib bound to activated ABL
2HYY	X-ray	2.4 Å	Abl kinase with imatinib (Glivec)
2HZI	X-ray	1.7 Å	Abl kinase with PD180970
3CS9	X-ray	2.21 Å	ABL kinase with nilotinib
3PYY	X-ray	1.85 Å	c-Abl kinase activator binding
3QRI	X-ray	2.1 Å	ABL1 kinase with DCC-2036
3UE4	X-ray	2.42 Å	Abl with bosutinib
4TWP	X-ray	2.4 Å	T315I mutant with axitinib
4WA9	X-ray	2.2 Å	Wild type with axitinib
5MO4	X-ray	2.17 Å	ABL1 with asciminib and nilotinib
5HU9	X-ray	1.53 Å	ABL1 with CHMFL-074
6NPE	X-ray	2.15 Å	c-Abl with activator compound
7N9G	X-ray	2.2 Å	Abl 1b kinase with dasatinib+imatinib
8SSN	X-ray	2.86 Å	Abl kinase with SKI and asciminib
(+63 more structures)

Species	Gene ID	Symbol	Biotype
Mouse (Mus musculus)	ENSMUSG00000026842	Abl1	protein_coding
Rat (Rattus norvegicus)	ENSRNOG00000047356	Abl1	protein_coding
Zebrafish (Danio rerio)	ENSDARG00000035187	abl1	protein_coding
Fruit fly (D. melanogaster)	Not in Ensembl orthologs	Abl	-
Worm (C. elegans)	Not in Ensembl orthologs	abl-1	-
Yeast (S. cerevisiae)	No ortholog	-	-

Classification	Count
Pathogenic	12
Likely Pathogenic	~15
Uncertain Significance (VUS)	~200
Likely Benign	~250
Benign	~150
Conflicting	~10
Other/Not Provided	~180

ClinVar ID	HGVS	Protein Change	Classification	Condition
12624	c.944C>T	p.Thr315Ile	Likely pathogenic	Drug resistance marker
12625	c.707A>T	p.Glu236Val	Pathogenic	CML
12626	c.706G>A	p.Glu236Lys	Pathogenic	CML
12627	c.757T>C	p.Tyr253His	Pathogenic	CML
12628	c.931T>C	p.Phe311Leu	Pathogenic	CML
12629	c.1052T>C	p.Met351Thr	Pathogenic	CML
374794	c.1009G>A	p.Ala337Thr	Pathogenic	CML
376084	c.730A>G	p.Met244Val	Pathogenic	CML
376091	c.764A>T	p.Glu255Val	Pathogenic	CML
376097	c.1187A>G	p.His396Arg	Pathogenic	CML
1029154	c.2351C>T	p.Pro784Leu	Likely pathogenic	-
1184856	c.1388G>A	p.Gly463Asp	Pathogenic	CHDSKM

Variant	Protein Change	AM Score	Classification
9:130854126:T:A	W48R	1.000	likely_pathogenic
9:130854128:G:C	W48C	1.000	likely_pathogenic
9:130854133:C:T	S50F	0.998	likely_pathogenic
9:130854127:G:C	W48S	0.998	likely_pathogenic
9:130854137:G:C	K51N	0.997	likely_pathogenic
9:130854138:G:A	E52K	0.997	likely_pathogenic
9:130854127:G:T	W48L	0.996	likely_pathogenic
9:130854133:C:A	S50Y	0.995	likely_pathogenic
9:130854132:T:C	S50P	0.992	likely_pathogenic
9:130854126:T:G	W48G	0.990	likely_pathogenic
9:130854138:G:C	E52Q	0.990	likely_pathogenic
9:130854135:A:G	K51E	0.987	likely_pathogenic
9:130854136:A:T	K51M	0.987	likely_pathogenic
9:130854136:A:C	K51T	0.979	likely_pathogenic
9:130854133:C:G	S50C	0.960	likely_pathogenic

Variant	Effect	Score
9:130854042:T:A	acceptor_gain	1.00
9:130854062:A:AG	acceptor_gain	1.00
9:130854063:GA:G	acceptor_gain	1.00
9:130854234:AAAGG:A	donor_loss	1.00
9:130854235:AAG:A	donor_loss	1.00
9:130854236:AG:A	donor_loss	1.00
9:130854237:GG:G	donor_loss	1.00
9:130854238:GT:G	donor_loss	1.00
9:130854239:T:A	donor_loss	1.00
9:130854798:CAG:C	acceptor_loss	1.00
9:130854799:A:AG	acceptor_gain	1.00
9:130854800:G:GG	acceptor_gain	1.00
9:130735676:G:GT	donor_gain	0.99
9:130854061:CAGAA:C	acceptor_gain	0.99
9:130854138:G:GT	donor_gain	0.99
9:130854957:C:G	donor_gain	0.99
(+84 more with score ≥0.8)

Pathway ID	Name	Disease Pathway
R-HSA-2029482	Regulation of actin dynamics for phagocytic cup formation	No
R-HSA-428890	Role of ABL in ROBO-SLIT signaling	No
R-HSA-525793	Myogenesis	No
R-HSA-5663213	RHO GTPases Activate WASPs and WAVEs	No
R-HSA-5685938	HDR through Single Strand Annealing (SSA)	No
R-HSA-5693565	Recruitment and ATM-mediated phosphorylation at DNA DSBs	No
R-HSA-69231	Cyclin D associated events in G1	No
R-HSA-8939236	RUNX1 regulates transcription of HSC differentiation genes	No
R-HSA-8940973	RUNX2 regulates osteoblast differentiation	No
R-HSA-9664422	FCGR3A-mediated phagocytosis	Yes
R-HSA-983231	Factors in megakaryocyte development and platelet production	No
R-HSA-9841922	MLL4/MLL3 regulate PPARG target genes	No
R-HSA-9860927	Turbulent flow shear stress activates PIEZO1/integrins	No

CCDS ID
CCDS35165
CCDS35166

GO ID	Term
GO:0006974	DNA damage response
GO:0006979	response to oxidative stress
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007229	integrin-mediated signaling pathway
GO:0007249	canonical NF-kappaB signal transduction
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0030035	microspike assembly
GO:0030036	actin cytoskeleton organization
GO:0030041	actin filament polymerization
GO:0035556	intracellular signal transduction
GO:0042770	signal transduction in response to DNA damage
GO:0043065	positive regulation of apoptotic process
GO:0045580	regulation of T cell differentiation
GO:0050852	T cell receptor signaling pathway
GO:0050853	B cell receptor signaling pathway
GO:0051726	regulation of cell cycle
GO:0070371	ERK1 and ERK2 cascade
GO:0098609	cell-cell adhesion
GO:2000145	regulation of cell motility
GO:0000278	mitotic cell cycle

GO ID	Term
GO:0004672	protein kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0004715	non-membrane spanning protein tyrosine kinase activity
GO:0005524	ATP binding
GO:0003677	DNA binding
GO:0051015	actin filament binding
GO:0003785	actin monomer binding
GO:0042169	SH2 domain binding
GO:0019899	enzyme binding
GO:0016301	kinase activity
GO:0005080	protein kinase C binding
GO:0003713	transcription coactivator activity
GO:0000400	four-way junction DNA binding
GO:0000405	bubble DNA binding
GO:0001784	phosphotyrosine residue binding
GO:0070064	proline-rich region binding
GO:0038191	neuropilin binding
GO:0046875	ephrin receptor binding
GO:0051019	mitogen-activated protein kinase binding
GO:1990837	sequence-specific double-stranded DNA binding

GO ID	Term
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005654	nucleoplasm
GO:0005886	plasma membrane
GO:0005739	mitochondrion
GO:0015629	actin cytoskeleton
GO:0030426	growth cone
GO:0043025	neuronal cell body
GO:0030425	dendrite
GO:0001726	ruffle
GO:0048471	perinuclear region of cytoplasm
GO:0098978	glutamatergic synapse
GO:0014069	postsynaptic density
GO:0032991	protein-containing complex

UniProt	Gene	Score
Q8IZP0	ABI1	978
P29354	SRC	973
Q92817	EVPL	958
P46108	CRK	954
Q8NEB9	PIK3C3	947
P41212	ETS1	930
P07900	HSP90AA1	922
P08238	HSP90AB1	910
P35658	NUP214	906
P35703	PERP	904
P04637	TP53	875
Q14457	BECN1	872
P11274	BCR	869
Q13671	RIN1	865
P46109	CRKL	856
Q9UQC2	GAB2	852
P38398	BRCA1	847
P78314	SH3BP1	841
Q13422	IKZF1	841
Q8N157	PDC	829
P51825	AF1Q	819
Q6ZNE5	DCP1B	810
Q01196	RUNX1	794
Q9NYB9	ABI2	786
P35222	CTNNB1	785
P29353	SHC1	776
Q13315	ATM	775
P01106	MYC	774
Q06609	RAD51	772
P28906	CD34	767
O43586	PSTPIP1	765
P08700	IL3	764
P01112	HRAS	756
P42336	PIK3CA	755
P31314	LIM2	755
Q969W1	ANXA6	750
P42771	CDKN2A	749
Q07820	MCL1	742
O43711	TBC1D14	738
Q00987	MDM2	733
P40424	PBX1	728
P51692	STAT5B	727
P42229	STAT5A	724
P78527	PRKDC	722
P49023	PXN	718
P38936	CDKN1A	716
P09874	PARP1	714
O00213	APBB1	710
Q969H0	FBXW7	703
P21583	SCF	702

UniProt	Top Similarity	Avg Similarity
P57058	1.0000	0.9892
Q5R7G9	1.0000	0.9904
Q5RBR0	1.0000	0.9873
Q7Z6J0	1.0000	0.9875
Q68UT7	1.0000	0.9894
Q9H093	1.0000	0.9903
P47708	0.9999	0.9858
P47709	0.9999	0.9859
Q9NQU5	0.9999	0.9899
P42684	0.9998	0.9906
Q4JIM5	0.9998	0.9906
D4ACP5	0.9997	0.9855
Q498M5	0.9997	0.9876
Q8VID5	0.9997	0.9858
Q8VI36	0.9996	0.9878
P60889	0.9996	0.9758
Q17R13	0.9996	0.9870
Q5U2X5	0.9996	0.9869
Q3U1V8	0.9995	0.9909
D3ZQL6	0.9995	0.9892

UniProt	Top Identity	Bitscore
A0M8S8	100.0%	2803
P11273	100.0%	1062
P00534	100.0%	1210
P00523	100.0%	1068
P00535	99.5%	1211
P00519	99.3%	1866
A0M8R7	99.3%	2784
P06241	99.6%	1114
O14544	99.3%	1060
P00520 (ABL2)	98.9%	1871
P00521	98.7%	1305
P08581	99.8%	2813
P09759	99.8%	1971
P00533	99.3%	2440
O35346	98.9%	2003
O60674	99.7%	2316
P00524	99.0%	1060
P00525	99.0%	1060
P00526	99.0%	1061
P12931	98.9%	1071

Target Gene	Regulation Type
BAX	Activation
BCL2	Repression
BCL6	Repression
CCND2	Activation
CDKN1A	Activation
CSF1	Activation
FOXO3	Activation
JUN	Activation
PIM1	Activation
TP53	Activation

Transcription Factor	Confidence
AP1	High
CUX1	High
GFI1	High
HIF1A	High
IRF8	High
JUN	High
PAX5	High
RELA	High
TBX21	High
TXK	High
BCL6	Low
EGR1	Low
ESR1	Low
HAND2	Low
HHEX	Low
HR	Low
KAT5	Low
MYC	Low
NFKB	Low
PAX1	Low
RUNX1	Low
SALL2	Low
SATB1	Low
SP1	Low
SPI1	Low
STAT1	Low
STAT5A	Low
TCF3	Low
TFAP2A	Low
TP53	Low
ZHX2	Low

Target	Effect	Mechanism	Score
ABI1	up-regulates	phosphorylation	0.88
RAD51	up-regulates activity	phosphorylation	0.77
CRKL	down-regulates	-	0.71
CRK	down-regulates activity	phosphorylation	0.76
MDM2	down-regulates	phosphorylation	0.72
YAP1	up-regulates	phosphorylation	0.72
RAD52	up-regulates activity	phosphorylation	0.69
ATR	up-regulates	phosphorylation	0.60
PSTPIP1	up-regulates activity	phosphorylation	0.60
CDKN1B	down-regulates quantity	phosphorylation	0.59
CDK5	up-regulates activity	phosphorylation	0.58
RB1	unknown	phosphorylation	0.57
WASL	up-regulates activity	phosphorylation	0.55
RAPGEF1	unknown	phosphorylation	0.54
CD19	up-regulates activity	phosphorylation	0.53
PDGFRB	down-regulates	phosphorylation	0.53
JUN	up-regulates activity	phosphorylation	0.53
ABL2	up-regulates	phosphorylation	0.52
EPHB2	down-regulates	phosphorylation	0.52
CASP9	up-regulates	phosphorylation	0.51

ChEMBL ID	Target Type	Mechanism
CHEMBL1862	SINGLE PROTEIN	Tyrosine-protein kinase ABL inhibitor
CHEMBL2096618	CHIMERIC PROTEIN	Bcr/Abl fusion protein

ChEMBL ID	Drug Name	Type	Phase
CHEMBL941	IMATINIB	Small molecule	4
CHEMBL1642	IMATINIB MESYLATE	Small molecule	4
CHEMBL5416410	DASATINIB	Small molecule	4
CHEMBL1421	DASATINIB ANHYDROUS	Small molecule	4
CHEMBL255863	NILOTINIB	Small molecule	4
CHEMBL288441	BOSUTINIB	Small molecule	4
CHEMBL1171837	PONATINIB	Small molecule	4
CHEMBL4208229	ASCIMINIB	Small molecule	4
CHEMBL1873475	IBRUTINIB	Small molecule	4
CHEMBL1789941	RUXOLITINIB	Small molecule	4
CHEMBL221959	TOFACITINIB	Small molecule	4
CHEMBL1336	SORAFENIB	Small molecule	4
CHEMBL535	SUNITINIB	Small molecule	4
CHEMBL553	ERLOTINIB	Small molecule	4
CHEMBL939	GEFITINIB	Small molecule	4
CHEMBL554	LAPATINIB	Small molecule	4
CHEMBL1173655	AFATINIB	Small molecule	4
CHEMBL180022	NERATINIB	Small molecule	4
CHEMBL477772	PAZOPANIB	Small molecule	4
CHEMBL1289926	AXITINIB	Small molecule	4
CHEMBL1289601	LENVATINIB	Small molecule	4
CHEMBL24828	VANDETANIB	Small molecule	4
CHEMBL2105717	CABOZANTINIB	Small molecule	4
CHEMBL601719	CRIZOTINIB	Small molecule	4
CHEMBL2403108	CERITINIB	Small molecule	4
CHEMBL3545311	BRIGATINIB	Small molecule	4
CHEMBL1983268	ENTRECTINIB	Small molecule	4
CHEMBL2028663	DABRAFENIB	Small molecule	4
CHEMBL3348923	TOVORAFENIB	Small molecule	4
CHEMBL502835	NINTEDANIB	Small molecule	4
CHEMBL1946170	REGORAFENIB	Small molecule	4
CHEMBL1287853	FEDRATINIB	Small molecule	4
CHEMBL1289494	TIVOZANIB	Small molecule	4
CHEMBL608533	MIDOSTAURIN	Small molecule	4
CHEMBL576982	QUIZARTINIB	Small molecule	4
CHEMBL3301607	FILGOTINIB	Small molecule	4
CHEMBL1852688	INFIGRATINIB	Small molecule	4
CHEMBL685	MEBENDAZOLE	Small molecule	4

Tissue	Expression Score	Quality
Frontal pole (brain)	98.80	Gold
Paraflocculus (cerebellum)	98.69	Gold
Middle frontal gyrus	98.68	Gold
Muscle layer of sigmoid colon	96.54	Gold
Mucosa of stomach	96.22	Gold
Lower esophagus muscularis layer	95.99	Gold
Lower esophagus	95.96	Gold
Esophagogastric junction muscularis	95.87	Gold
Stromal cell of endometrium	95.79	Gold
Left uterine tube	95.62	Gold
Ventricular zone	95.40	Gold
Body of uterus	95.13	Gold
Ganglionic eminence	95.11	Gold
Tibial artery	95.05	Gold
Popliteal artery	95.05	Gold
Endocervix	94.94	Gold
Saphenous vein	94.81	Gold
Sigmoid colon	94.22	Gold
Aorta	94.18	Gold
Right ovary	94.00	Gold
Endometrium epithelium	93.83	Gold
Left ovary	93.82	Gold
Fundus of stomach	93.58	Gold
Right coronary artery	93.55	Gold
Transverse colon	93.54	Gold
Smooth muscle tissue	93.52	Gold
Right lobe of thyroid gland	93.17	Gold
Descending thoracic aorta	93.15	Gold
Gall bladder	93.15	Gold
Pericardium	93.14	Gold

Disease	Classification	Inheritance	Submitter
Congenital heart defects and skeletal malformations syndrome (OMIM:617602)	Strong	Autosomal dominant	Labcorp Genetics, G2P
Connective tissue disorder	Moderate	Autosomal dominant	Genomics England
Bone development disease	Limited	Autosomal recessive	Ambry Genetics

Orphanet ID	Disease	Type	Gene Count
521	Chronic myeloid leukemia	Disease	3
585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Etiological subtype	7
643503	Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome	Disease	1
99861	Precursor T-cell acute lymphoblastic leukemia	Disease	23

HPO ID	Phenotype
HP:0005506	Chronic myelogenous leukemia
HP:0005547	Myeloproliferative disorder
HP:0004848	Ph-positive acute lymphoblastic leukemia
HP:0001871	Abnormality of blood and blood-forming tissues
HP:0001873	Thrombocytopenia
HP:0001894	Thrombocytosis
HP:0001974	Increased total leukocyte count
HP:0001911	Abnormal granulocyte morphology
HP:0004852	Reduced leukocyte alkaline phosphatase
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001680	Coarctation of aorta
HP:0002616	Aortic root aneurysm
HP:0001166	Arachnodactyly
HP:0001382	Joint hypermobility
HP:0000767	Pectus excavatum
HP:0002650	Scoliosis
HP:0000776	Congenital diaphragmatic hernia
HP:0004322	Short stature
HP:0001263	Global developmental delay

Study ID	Trait	P-value
GCST90002402	Platelet count	7×10⁻¹³
GCST90002407	White blood cell count	8×10⁻¹²
GCST90002388	Lymphocyte count	9×10⁻¹¹
GCST90002404	Red cell distribution width	1×10⁻¹⁰
GCST001651	Response to amphetamines	8×10⁻⁶
GCST005174	Coronary artery calcification (T2D)	5×10⁻⁶

Category	Count
Ensembl Transcripts	6
RefSeq Transcripts (Human)	2
CCDS IDs	2
Exons (Canonical)	11
InterPro Domains	13
PDB Structures	85
Cross-species Orthologs	3
ClinVar Variants	818
AlphaMissense Predictions	7,361
SpliceAI Predictions	2,998
Reactome Pathways	13
GO Annotations	156
STRING Interactions	5,920
BioGRID Interactions	555
IntAct Interactions	438
ESM2 Similar Proteins	81
DIAMOND Homologs	414
CollecTRI TF Targets	10
CollecTRI Upstream TFs	31
SIGNOR Interactions	241
Approved Drugs (Phase 4)	41
PharmGKB Drugs	10
HPO Phenotypes	62
Orphanet Diseases	4
GenCC Diseases	4
GWAS Associations	6
Bgee Expression Conditions	283