Gene Gene information from NCBI Gene database.
Entrez ID 7862
Gene name Bromodomain and PHD finger containing 1
Gene symbol BRPF1
Synonyms (NCBI Gene)
BR140IDDDFP
Chromosome 3
Chromosome location 3p25.3
Summary This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. T
SNPs SNP information provided by dbSNP.
25
SNP ID Visualize variation Clinical significance Consequence
rs762904815 C>-,CC,CCC Pathogenic Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs886041090 TG>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519509 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs1057519510 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs1057519511 AG>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
160
miRTarBase ID miRNA Experiments Reference
MIRT052041 hsa-let-7b-5p CLASH 23622248
MIRT050786 hsa-miR-17-3p CLASH 23622248
MIRT047074 hsa-miR-183-5p CLASH 23622248
MIRT043564 hsa-miR-331-3p CLASH 23622248
MIRT480714 hsa-miR-3927-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000123 Component Histone acetyltransferase complex IDA 24065767
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 25281266, 32296183
GO:0005634 Component Nucleus IDA 18794358, 24065767, 25593309, 27939640
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602410 14255 ENSG00000156983
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P55201
Protein name Peregrin (Bromodomain and PHD finger-containing protein 1) (Protein Br140)
Protein function Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:24065767, PubMed:27939640). Plays a key role in HBO1 comp
PDB 2D9E , 2RS9 , 2X35 , 2X4W , 2X4X , 2X4Y , 3L42 , 3MO8 , 4LC2 , 4QYD , 4QYL , 4UYE , 5C6S , 5C7N , 5C85 , 5C87 , 5C89 , 5D7X , 5DY7 , 5DYA , 5DYC , 5E3D , 5E3G , 5EM3 , 5EPR , 5EPS , 5EQ1 , 5ERC , 5ETB , 5ETD , 5EV9 , 5EVA , 5EWC , 5EWD , 5EWH , 5EWV , 5EWW , 5FFV , 5FFW , 5FFY , 5FG4 , 5FG5 , 5G4R , 5G4S , 5MWG , 5MWH , 5MWZ , 5MYG , 5O4S , 5O4T , 5O55
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10513 EPL1 106 255 Enhancer of polycomb-like Family
PF13831 PHD_2 287 321 Family
PF13832 zf-HC5HC2H_2 328 447 Domain
PF00439 Bromodomain 637 720 Bromodomain Domain
PF00855 PWWP 1083 1200 PWWP domain Domain
Tissue specificity TISSUE SPECIFICITY: High levels in testis. {ECO:0000269|PubMed:7906940}.
Sequence
MGVDFDVKTFCHNLRATKPPYECPVETCRKVYKSYSGIEYHLYHYDHDNPPPPQQTPLRK
HKKKGRQSRPANKQSPSPSEVSQSPGREVMSYAQAQRMVEVDLHGRVHRISIFDNLDVVS
EDEEAPEEAPENGSNKENTETPAATPKSGKHKNKEKRKDSNHHHHHNVSASTTPKLPEVV
YRELEQDTPDAPPRPTSYYRYIEKSAEELDEEVEYDMDEEDYIWLDIMNERRKTEGVSPI
PQEIFEYLMDRLEKE
SYFESHNKGDPNALVDEDAVCCICNDGECQNSNVILFCDMCNLAV
HQECYGVPYIPEGQWLCRRCL
QSPSRAVDCALCPNKGGAFKQTDDGRWAHVVCALWIPEV
CFANTVFLEPIDSIEHIPPARWKLTCYICKQRGSGACIQCHKANCYTAFHVTCAQQAGLY
MKMEPVRETGANGTSFSVRKTAYCDIH
TPPGSARRLPALSHSEGEEDEDEEEDEGKGWSS
EKVKKAKAKSRIKMKKARKILAEKRAAAPVVSVPCIPPHRLSKITNRLTIQRKSQFMQRL
HSYWTLKRQSRNGVPLLRRLQTHLQSQRNCDQVGRDSEDKNWALKEQLKSWQRLRHDLER
ARLLVELIRKREKLKRETIKVQQIAMEMQLTPFLILLRKTLEQLQEKDTGNIFSEPVPLS
EVPDYLDHIKKPMDFFTMKQNLEAYRYLNFDDFEEDFNLIVSNCLKYNAKDTIFYRAAVR

LREQGGAVLRQARRQAEKMGIDFETGMHIPHSLAGDEATHHTEDAAEEERLVLLENQKHL
PVEEQLKLLLERLDEVNASKQSVGRSRRAKMIKKEMTALRRKLAHQRETGRDGPERHGPS
SRGSLTPHPAACDKDGQTDSAAEESSSQETSKGLGPNMSSTPAHEVGRRTSVLFSKKNPK
TAGPPKRPGRPPKNRESQMTPSHGGSPVGPPQLPIMSSLRQRKRGRSPRPSSSSDSDSDK
STEDPPMDLPANGFSGGNQPVKKSFLVYRNDCSLPRSSSDSESSSSSSSSAASDRTSTTP
SKQGRGKPSFSRGTFPEDSSEDTSGTENEAYSVGTGRGVGHSMVRKSLGRGAGWLSEDED
SPLDALDLVWAKCRGYPSYPALIIDPKMPREGMFHHGVPIPVPPLEVLKLGEQMTQEARE
HLYLVLFFDNKRTWQWLPRTKLVPLGVNQDLDKEKMLEGRKSNIRKSVQIAYHRALQHRS

KVQGEQSSETSDSD
Sequence length 1214
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HATs acetylate histones
Regulation of TP53 Activity through Acetylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
BRPF1-related disorder Pathogenic; Likely pathogenic rs2125500187, rs2471511294, rs2471497955, rs2471469955 RCV004746505
RCV003394451
RCV003393033
RCV003397781
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Pathogenic rs1575155995 RCV001526572
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with dysmorphic facies and ptosis Likely pathogenic; Pathogenic rs2125489641, rs1367505804, rs2125511510, rs2125501418, rs2125503212, rs2125515297, rs2125500625, rs2125500187, rs2125500524, rs2125507908, rs2125514693, rs2125500407, rs2125504267, rs2471501529, rs759029777
View all (30 more)
RCV001374610
RCV001788504
RCV001784054
RCV001808301
RCV001808849
View all (40 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability Pathogenic rs886041090, rs2077100499 RCV000258899
RCV001249495
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autistic behavior Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL DISABILITIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations