BRPF1 (bromodomain and PHD finger containing 1)

2003-02-01  

Identity

HGNC
BRPF1
LOCATION
3p25.3
LOCUSID
7862
ALIAS
BR140,IDDDFP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7862
MIM: 602410
HGNC: 14255
Ensembl: ENSG00000156983

Variants:

dbSNP: 7862
ClinVar: 7862
TCGA: ENSG00000156983
COSMIC: BRPF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156983ENST00000383829P55201
ENSG00000156983ENST00000420291C9JDK5
ENSG00000156983ENST00000424362P55201
ENSG00000156983ENST00000426583C9JHC0
ENSG00000156983ENST00000433861P55201
ENSG00000156983ENST00000457855P55201

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through AcetylationREACTOMER-HSA-6804758

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383466662024Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.0
383466662024Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.0
371908962023Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.0
374235122023Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to maintain malignant progression in colon cancer.0
371908962023Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.0
374235122023Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to maintain malignant progression in colon cancer.0
342853292021Bromodomain-containing protein BRPF1 is a therapeutic target for liver cancer.14
342853292021Bromodomain-containing protein BRPF1 is a therapeutic target for liver cancer.14
317117552020Molecular Basis for the PZP Domain of BRPF1 Association with Chromatin.13
317117552020Molecular Basis for the PZP Domain of BRPF1 Association with Chromatin.13
318519322019Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma.9
318519322019Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma.9
279396392017Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.30
279396402017Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.45
279396392017Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.30

Citation

Dessen P

BRPF1 (bromodomain and PHD finger containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/844/gene-fusions/gene-fusions-explorer/js/lib/zoomerang.js