Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1879
Gene name Gene Name - the full gene name approved by the HGNC.
EBF transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EBF1
Synonyms (NCBI Gene) Gene synonyms aliases
COE1, EBF, O/E-1, OLF1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q33.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018619 hsa-miR-335-5p Microarray 18185580
MIRT624076 hsa-miR-129-5p HITS-CLIP 23824327
MIRT624075 hsa-miR-5590-5p HITS-CLIP 23824327
MIRT624074 hsa-miR-4659a-5p HITS-CLIP 23824327
MIRT624073 hsa-miR-4659b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164343 3126 ENSG00000164330
Protein
UniProt ID Q9UH73
Protein name Transcription factor COE1 (O/E-1) (OE-1) (Early B-cell factor)
Protein function Key pioneer transcription factor of B-cell specification and commitment (PubMed:27807034). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Operates in a transcription factor network to activate B-cell-specific genes and
PDB 3LYR , 3MQI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16422 COE1_DBD 17 247 Transcription factor COE1 DNA-binding domain Domain
PF01833 TIG 262 344 IPT/TIG domain Domain
PF16423 COE1_HLH 347 390 Transcription factor COE1 helix-loop-helix domain Domain
Sequence
Sequence length 591
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Postmenopausal breast cancer, Breast cancer (estrogen-receptor negative) N/A N/A GWAS
Breast cancer Breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 38477908
Alopecia Associate 26001114, 34506541
Autoimmune Diseases Associate 30878028
Bone Marrow Diseases Associate 33369444
Brain Diseases Associate 26872634
Breast Neoplasms Associate 24325915, 25862352, 27863437, 29099283, 39796183
Burkitt Lymphoma Associate 32054837
Carcinogenesis Associate 24970810
Carcinoma Renal Cell Associate 33932757
Carcinoma Squamous Cell Associate 30896821