Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7862
Gene name Gene Name - the full gene name approved by the HGNC.	Bromodomain and PHD finger containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BRPF1
Synonyms (NCBI Gene) Gene synonyms aliases	BR140, IDDDFP
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p25.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(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
rs1057519512	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519513	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519514	C>G	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057519515	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057519516	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519517	->A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1553693702	G>A	Pathogenic	Missense variant, non coding transcript variant, initiator codon variant
rs1553693712	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553693863	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553695017	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553695038	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1553695222	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553695254	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553696275	GA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553697341	CTT>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs1559662068	AG>T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559662077	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1575147387	GGACACCCCTGAT>AGGTAGAGGTG	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575155995	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575164369	ATAG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

Show/Hide all(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
MIRT480713	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT480712	hsa-miR-4468	PAR-CLIP	23592263
MIRT480711	hsa-miR-6134	PAR-CLIP	23592263
MIRT480710	hsa-miR-6735-3p	PAR-CLIP	23592263
MIRT480708	hsa-miR-5187-5p	PAR-CLIP	23592263
MIRT480709	hsa-miR-4451	PAR-CLIP	23592263
MIRT480707	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT480706	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT480705	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT480703	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT480704	hsa-miR-4654	PAR-CLIP	23592263
MIRT480702	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT480701	hsa-miR-6728-5p	PAR-CLIP	23592263
MIRT480700	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT480699	hsa-miR-6715a-3p	PAR-CLIP	23592263
MIRT480698	hsa-miR-5681a	PAR-CLIP	23592263
MIRT480697	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT480696	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT480695	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT480694	hsa-miR-5698	PAR-CLIP	23592263
MIRT480693	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT480692	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT480690	hsa-miR-4525	PAR-CLIP	23592263
MIRT480691	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT480689	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT480688	hsa-miR-4447	PAR-CLIP	23592263
MIRT480687	hsa-miR-4472	PAR-CLIP	23592263
MIRT480686	hsa-miR-1275	PAR-CLIP	23592263
MIRT480685	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT480684	hsa-miR-510-3p	PAR-CLIP	23592263
MIRT480683	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT480714	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT480713	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT480712	hsa-miR-4468	PAR-CLIP	23592263
MIRT480711	hsa-miR-6134	PAR-CLIP	23592263
MIRT480710	hsa-miR-6735-3p	PAR-CLIP	23592263
MIRT480708	hsa-miR-5187-5p	PAR-CLIP	23592263
MIRT480709	hsa-miR-4451	PAR-CLIP	23592263
MIRT480707	hsa-miR-541-3p	PAR-CLIP	23592263
MIRT480706	hsa-miR-654-5p	PAR-CLIP	23592263
MIRT480705	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT480703	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT480704	hsa-miR-4654	PAR-CLIP	23592263
MIRT480702	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT480701	hsa-miR-6728-5p	PAR-CLIP	23592263
MIRT480700	hsa-miR-488-3p	PAR-CLIP	23592263
MIRT480699	hsa-miR-6715a-3p	PAR-CLIP	23592263
MIRT480698	hsa-miR-5681a	PAR-CLIP	23592263
MIRT480697	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT480696	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT480695	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT480694	hsa-miR-5698	PAR-CLIP	23592263
MIRT480693	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT480692	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT480690	hsa-miR-4525	PAR-CLIP	23592263
MIRT480691	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT480689	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT480688	hsa-miR-4447	PAR-CLIP	23592263
MIRT480687	hsa-miR-4472	PAR-CLIP	23592263
MIRT480686	hsa-miR-1275	PAR-CLIP	23592263
MIRT480685	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT480684	hsa-miR-510-3p	PAR-CLIP	23592263
MIRT480683	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT825331	hsa-miR-101	CLIP-seq
MIRT825332	hsa-miR-144	CLIP-seq
MIRT825333	hsa-miR-1909	CLIP-seq
MIRT825334	hsa-miR-214	CLIP-seq
MIRT825335	hsa-miR-3136-3p	CLIP-seq
MIRT825336	hsa-miR-328	CLIP-seq
MIRT825337	hsa-miR-3619-5p	CLIP-seq
MIRT825338	hsa-miR-371-3p	CLIP-seq
MIRT825339	hsa-miR-371b-3p	CLIP-seq
MIRT825340	hsa-miR-4419a	CLIP-seq
MIRT825341	hsa-miR-4510	CLIP-seq
MIRT825342	hsa-miR-4699-3p	CLIP-seq
MIRT825343	hsa-miR-4728-5p	CLIP-seq
MIRT825344	hsa-miR-515-3p	CLIP-seq
MIRT825345	hsa-miR-519e	CLIP-seq
MIRT825346	hsa-miR-582-5p	CLIP-seq
MIRT825347	hsa-miR-761	CLIP-seq
MIRT825331	hsa-miR-101	CLIP-seq
MIRT825332	hsa-miR-144	CLIP-seq
MIRT825333	hsa-miR-1909	CLIP-seq
MIRT825334	hsa-miR-214	CLIP-seq
MIRT825348	hsa-miR-3153	CLIP-seq
MIRT825349	hsa-miR-3154	CLIP-seq
MIRT825337	hsa-miR-3619-5p	CLIP-seq
MIRT825350	hsa-miR-4311	CLIP-seq
MIRT825351	hsa-miR-4522	CLIP-seq
MIRT825352	hsa-miR-4634	CLIP-seq
MIRT825353	hsa-miR-4668-5p	CLIP-seq
MIRT825342	hsa-miR-4699-3p	CLIP-seq
MIRT825343	hsa-miR-4728-5p	CLIP-seq
MIRT825354	hsa-miR-520d-5p	CLIP-seq
MIRT825355	hsa-miR-524-5p	CLIP-seq
MIRT825356	hsa-miR-580	CLIP-seq
MIRT825347	hsa-miR-761	CLIP-seq
MIRT825357	hsa-miR-935	CLIP-seq
MIRT1943890	hsa-miR-1587	CLIP-seq
MIRT1943891	hsa-miR-185	CLIP-seq
MIRT825333	hsa-miR-1909	CLIP-seq
MIRT1943892	hsa-miR-203	CLIP-seq
MIRT825334	hsa-miR-214	CLIP-seq
MIRT1943893	hsa-miR-224	CLIP-seq
MIRT1943894	hsa-miR-3121-5p	CLIP-seq
MIRT1943895	hsa-miR-3147	CLIP-seq
MIRT1943896	hsa-miR-3150b-3p	CLIP-seq
MIRT825348	hsa-miR-3153	CLIP-seq
MIRT825337	hsa-miR-3619-5p	CLIP-seq
MIRT825338	hsa-miR-371-3p	CLIP-seq
MIRT825339	hsa-miR-371b-3p	CLIP-seq
MIRT1943897	hsa-miR-4306	CLIP-seq
MIRT825340	hsa-miR-4419a	CLIP-seq
MIRT1943898	hsa-miR-4436a	CLIP-seq
MIRT1943899	hsa-miR-4492	CLIP-seq
MIRT1943900	hsa-miR-4498	CLIP-seq
MIRT825341	hsa-miR-4510	CLIP-seq
MIRT1943901	hsa-miR-4644	CLIP-seq
MIRT1943902	hsa-miR-4656	CLIP-seq
MIRT1943903	hsa-miR-4659a-3p	CLIP-seq
MIRT1943904	hsa-miR-4659b-3p	CLIP-seq
MIRT825353	hsa-miR-4668-5p	CLIP-seq
MIRT1943905	hsa-miR-4674	CLIP-seq
MIRT1943906	hsa-miR-4675	CLIP-seq
MIRT825342	hsa-miR-4699-3p	CLIP-seq
MIRT825343	hsa-miR-4728-5p	CLIP-seq
MIRT1943907	hsa-miR-4741	CLIP-seq
MIRT1943908	hsa-miR-4784	CLIP-seq
MIRT1943909	hsa-miR-488	CLIP-seq
MIRT1943910	hsa-miR-508-5p	CLIP-seq
MIRT1943911	hsa-miR-513a-5p	CLIP-seq
MIRT825344	hsa-miR-515-3p	CLIP-seq
MIRT825345	hsa-miR-519e	CLIP-seq
MIRT1943912	hsa-miR-625	CLIP-seq
MIRT1943913	hsa-miR-665	CLIP-seq
MIRT825347	hsa-miR-761	CLIP-seq
MIRT1943914	hsa-miR-762	CLIP-seq
MIRT1943915	hsa-miR-765	CLIP-seq
MIRT2182579	hsa-miR-1236	CLIP-seq
MIRT2182580	hsa-miR-3652	CLIP-seq
MIRT2182581	hsa-miR-4430	CLIP-seq
MIRT1943898	hsa-miR-4436a	CLIP-seq
MIRT2182582	hsa-miR-4520a-3p	CLIP-seq
MIRT2182583	hsa-miR-4638-3p	CLIP-seq
MIRT2182584	hsa-miR-4645-5p	CLIP-seq
MIRT2182585	hsa-miR-4673	CLIP-seq
MIRT2182586	hsa-miR-4749-3p	CLIP-seq
MIRT1943910	hsa-miR-508-5p	CLIP-seq
MIRT1943913	hsa-miR-665	CLIP-seq
MIRT2486290	hsa-miR-148a	CLIP-seq
MIRT2486291	hsa-miR-148b	CLIP-seq
MIRT2486292	hsa-miR-152	CLIP-seq
MIRT2486293	hsa-miR-2467-3p	CLIP-seq
MIRT2486294	hsa-miR-3678-3p	CLIP-seq
MIRT2486295	hsa-miR-4697-3p	CLIP-seq

Show/Hide all(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
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	27939640
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IMP	27939640
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	18794358
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010698	Function	Acetyltransferase activator activity	IDA	27939640
GO:0043995	Function	Histone H4K5 acetyltransferase activity	IDA	16387653
GO:0043996	Function	Histone H4K8 acetyltransferase activity	IDA	16387653
GO:0043997	Function	Histone H4K12 acetyltransferase activity	IDA	16387653
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	18794358
GO:0046872	Function	Metal ion binding	IEA
GO:0050793	Process	Regulation of developmental process	NAS	16387653
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IBA
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IDA	16387653, 18794358, 27939640
GO:0070776	Component	MOZ/MORF histone acetyltransferase complex	IEA
GO:1903706	Process	Regulation of hemopoiesis	NAS	16387653

MIM	HGNC	e!Ensembl
602410	14255	ENSG00000156983

Protein

UniProt ID

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
PQEIFEYLMDRLEKESYFESHNKGDPNALVDEDAVCCICNDGECQNSNVILFCDMCNLAV
HQECYGVPYIPEGQWLCRRCLQSPSRAVDCALCPNKGGAFKQTDDGRWAHVVCALWIPEV
CFANTVFLEPIDSIEHIPPARWKLTCYICKQRGSGACIQCHKANCYTAFHVTCAQQAGLY
MKMEPVRETGANGTSFSVRKTAYCDIHTPPGSARRLPALSHSEGEEDEDEEEDEGKGWSS
EKVKKAKAKSRIKMKKARKILAEKRAAAPVVSVPCIPPHRLSKITNRLTIQRKSQFMQRL
HSYWTLKRQSRNGVPLLRRLQTHLQSQRNCDQVGRDSEDKNWALKEQLKSWQRLRHDLER
ARLLVELIRKREKLKRETIKVQQIAMEMQLTPFLILLRKTLEQLQEKDTGNIFSEPVPLS
EVPDYLDHIKKPMDFFTMKQNLEAYRYLNFDDFEEDFNLIVSNCLKYNAKDTIFYRAAVR
LREQGGAVLRQARRQAEKMGIDFETGMHIPHSLAGDEATHHTEDAAEEERLVLLENQKHL
PVEEQLKLLLERLDEVNASKQSVGRSRRAKMIKKEMTALRRKLAHQRETGRDGPERHGPS
SRGSLTPHPAACDKDGQTDSAAEESSSQETSKGLGPNMSSTPAHEVGRRTSVLFSKKNPK
TAGPPKRPGRPPKNRESQMTPSHGGSPVGPPQLPIMSSLRQRKRGRSPRPSSSSDSDSDK
STEDPPMDLPANGFSGGNQPVKKSFLVYRNDCSLPRSSSDSESSSSSSSSAASDRTSTTP
SKQGRGKPSFSRGTFPEDSSEDTSGTENEAYSVGTGRGVGHSMVRKSLGRGAGWLSEDED
SPLDALDLVWAKCRGYPSYPALIIDPKMPREGMFHHGVPIPVPPLEVLKLGEQMTQEARE
HLYLVLFFDNKRTWQWLPRTKLVPLGVNQDLDKEKMLEGRKSNIRKSVQIAYHRALQHRS
KVQGEQSSETSDSD

Sequence length

1214

Interactions

View interactions

	Reactome
			HATs acetylate histones Regulation of TP53 Activity through Acetylation

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	intellectual developmental disorder with dysmorphic facies and ptosis	rs1057519509, rs1559662068, rs1057519510, rs1559662077, rs1057519511, rs1575155995, rs1057519512, rs1057519513, rs1057519514, rs1057519515, rs1057519516, rs1057519517, rs1553697341, rs886041090, rs1553695017	N/A
Developmental Delay	global developmental delay	rs1575155995	N/A
Mental retardation	intellectual disability	rs886041090	N/A

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Apraxias	Associate	38346666
Articulation Disorders	Associate	38346666
Blepharophimosis	Associate	27939639, 31020800
Carcinoma Hepatocellular	Associate	35822928, 38072045
Death Sudden	Associate	32652122
Dental Fissures	Associate	31020800
Facial Dysmorphism with Multiple Malformations	Associate	31020800, 38346666
Genetic Diseases Inborn	Associate	31020800
Immunologic Deficiency Syndromes	Associate	27939639
Intellectual Disability	Associate	27939639, 31020800, 33157260, 38346666
Language Disorders	Associate	38346666
Leukemia T Cell	Associate	35822928
Mental Retardation Autosomal Dominant 1	Associate	33157260
Microphthalmia Isolated with Coloboma 2	Associate	33418956
Microphthalmos	Associate	33418956
Muscle Hypotonia	Associate	31020800
Neoplasms	Associate	35822928, 38072045
Ptosis Hereditary Congenital 2	Associate	27939639, 31020800, 38346666
Thakker Donnai syndrome	Associate	31020800
Triple Negative Breast Neoplasms	Associate	40583060

BRPF1 (bromodomain and PHD finger containing 1)