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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2972
Gene name	BRF1 general transcription factor IIIB subunit
Gene symbol	BRF1
Synonyms (NCBI Gene)	BRFBRF-1CFDSGTF3BHEL-S-76pTAF3B2TAF3CTAFIII90TF3B90TFIIIB90hBRF
Chromosome	14
Chromosome location	14q32.33
Summary	This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The g

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142328073	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, 5 prime UTR variant
rs370270828	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs373957300	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs606231416	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs606231450	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant

125

Show/Hide all (125)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049633	hsa-miR-92a-3p	CLASH	23622248
MIRT037125	hsa-miR-877-3p	CLASH	23622248
MIRT824577	hsa-miR-3150b-3p	CLIP-seq
MIRT824578	hsa-miR-4502	CLIP-seq
MIRT824579	hsa-miR-4663	CLIP-seq
MIRT824580	hsa-miR-4689	CLIP-seq
MIRT824581	hsa-miR-4728-3p	CLIP-seq
MIRT824582	hsa-miR-4784	CLIP-seq
MIRT824583	hsa-miR-1200	CLIP-seq
MIRT824584	hsa-miR-1207-3p	CLIP-seq
MIRT824585	hsa-miR-1470	CLIP-seq
MIRT824586	hsa-miR-149	CLIP-seq
MIRT824587	hsa-miR-1913	CLIP-seq
MIRT824588	hsa-miR-2115	CLIP-seq
MIRT824589	hsa-miR-2467-3p	CLIP-seq
MIRT824590	hsa-miR-2861	CLIP-seq
MIRT824591	hsa-miR-3064-5p	CLIP-seq
MIRT824592	hsa-miR-3128	CLIP-seq
MIRT824593	hsa-miR-3166	CLIP-seq
MIRT824594	hsa-miR-3178	CLIP-seq
MIRT824595	hsa-miR-3195	CLIP-seq
MIRT824596	hsa-miR-324-3p	CLIP-seq
MIRT824597	hsa-miR-346	CLIP-seq
MIRT824598	hsa-miR-3614-5p	CLIP-seq
MIRT824599	hsa-miR-3619-3p	CLIP-seq
MIRT824600	hsa-miR-377	CLIP-seq
MIRT824601	hsa-miR-3918	CLIP-seq
MIRT824602	hsa-miR-4267	CLIP-seq
MIRT824603	hsa-miR-4277	CLIP-seq
MIRT824604	hsa-miR-4290	CLIP-seq
MIRT824605	hsa-miR-4324	CLIP-seq
MIRT824606	hsa-miR-4436b-5p	CLIP-seq
MIRT824607	hsa-miR-4469	CLIP-seq
MIRT824608	hsa-miR-4487	CLIP-seq
MIRT824609	hsa-miR-4519	CLIP-seq
MIRT824610	hsa-miR-4530	CLIP-seq
MIRT824611	hsa-miR-4535	CLIP-seq
MIRT824612	hsa-miR-4640-5p	CLIP-seq
MIRT824613	hsa-miR-4643	CLIP-seq
MIRT824614	hsa-miR-4667-3p	CLIP-seq
MIRT824615	hsa-miR-4687-5p	CLIP-seq
MIRT824616	hsa-miR-4690-3p	CLIP-seq
MIRT824617	hsa-miR-4720-5p	CLIP-seq
MIRT824618	hsa-miR-4726-5p	CLIP-seq
MIRT824619	hsa-miR-4771	CLIP-seq
MIRT824620	hsa-miR-4776-5p	CLIP-seq
MIRT824621	hsa-miR-4794	CLIP-seq
MIRT824622	hsa-miR-4799-3p	CLIP-seq
MIRT824623	hsa-miR-512-5p	CLIP-seq
MIRT824624	hsa-miR-513a-5p	CLIP-seq
MIRT824625	hsa-miR-541	CLIP-seq
MIRT824626	hsa-miR-544b	CLIP-seq
MIRT824627	hsa-miR-603	CLIP-seq
MIRT824628	hsa-miR-634	CLIP-seq
MIRT824629	hsa-miR-640	CLIP-seq
MIRT824630	hsa-miR-654-5p	CLIP-seq
MIRT824631	hsa-miR-760	CLIP-seq
MIRT824632	hsa-miR-890	CLIP-seq
MIRT1943758	hsa-miR-1197	CLIP-seq
MIRT824583	hsa-miR-1200	CLIP-seq
MIRT824590	hsa-miR-2861	CLIP-seq
MIRT1943759	hsa-miR-3074-5p	CLIP-seq
MIRT1943760	hsa-miR-3117-5p	CLIP-seq
MIRT824577	hsa-miR-3150b-3p	CLIP-seq
MIRT1943761	hsa-miR-3151	CLIP-seq
MIRT1943762	hsa-miR-361-3p	CLIP-seq
MIRT1943763	hsa-miR-3622a-3p	CLIP-seq
MIRT1943764	hsa-miR-3622b-3p	CLIP-seq
MIRT1943765	hsa-miR-3679-3p	CLIP-seq
MIRT1943766	hsa-miR-3690	CLIP-seq
MIRT1943767	hsa-miR-370	CLIP-seq
MIRT1943768	hsa-miR-3913-3p	CLIP-seq
MIRT824601	hsa-miR-3918	CLIP-seq
MIRT1943769	hsa-miR-4254	CLIP-seq
MIRT824603	hsa-miR-4277	CLIP-seq
MIRT1943770	hsa-miR-4283	CLIP-seq
MIRT1943771	hsa-miR-4313	CLIP-seq
MIRT824605	hsa-miR-4324	CLIP-seq
MIRT1943772	hsa-miR-4436a	CLIP-seq
MIRT1943773	hsa-miR-4443	CLIP-seq
MIRT824608	hsa-miR-4487	CLIP-seq
MIRT1943774	hsa-miR-4489	CLIP-seq
MIRT824609	hsa-miR-4519	CLIP-seq
MIRT824610	hsa-miR-4530	CLIP-seq
MIRT824579	hsa-miR-4663	CLIP-seq
MIRT824580	hsa-miR-4689	CLIP-seq
MIRT1943775	hsa-miR-4707-3p	CLIP-seq
MIRT1943776	hsa-miR-4722-3p	CLIP-seq
MIRT824581	hsa-miR-4728-3p	CLIP-seq
MIRT1943777	hsa-miR-4755-3p	CLIP-seq
MIRT824582	hsa-miR-4784	CLIP-seq
MIRT1943778	hsa-miR-499-3p	CLIP-seq
MIRT1943779	hsa-miR-499a-3p	CLIP-seq
MIRT824624	hsa-miR-513a-5p	CLIP-seq
MIRT824626	hsa-miR-544b	CLIP-seq
MIRT824628	hsa-miR-634	CLIP-seq
MIRT1943780	hsa-miR-662	CLIP-seq
MIRT1943781	hsa-miR-671-5p	CLIP-seq
MIRT2384882	hsa-miR-188-3p	CLIP-seq
MIRT2384883	hsa-miR-3917	CLIP-seq
MIRT2384884	hsa-miR-532-3p	CLIP-seq
MIRT2486138	hsa-miR-1227	CLIP-seq
MIRT2486139	hsa-miR-1302	CLIP-seq
MIRT2486140	hsa-miR-4298	CLIP-seq
MIRT2486141	hsa-miR-4446-3p	CLIP-seq
MIRT2486142	hsa-miR-4648	CLIP-seq
MIRT2486143	hsa-miR-4654	CLIP-seq
MIRT2486144	hsa-miR-4675	CLIP-seq
MIRT2486145	hsa-miR-4721	CLIP-seq
MIRT2486146	hsa-miR-4741	CLIP-seq
MIRT2486147	hsa-miR-4769-5p	CLIP-seq
MIRT2486148	hsa-miR-552	CLIP-seq
MIRT2486149	hsa-miR-764	CLIP-seq
MIRT2486138	hsa-miR-1227	CLIP-seq
MIRT2486139	hsa-miR-1302	CLIP-seq
MIRT2486140	hsa-miR-4298	CLIP-seq
MIRT2486141	hsa-miR-4446-3p	CLIP-seq
MIRT2486142	hsa-miR-4648	CLIP-seq
MIRT2486143	hsa-miR-4654	CLIP-seq
MIRT2486144	hsa-miR-4675	CLIP-seq
MIRT2486145	hsa-miR-4721	CLIP-seq
MIRT2486146	hsa-miR-4741	CLIP-seq
MIRT2486147	hsa-miR-4769-5p	CLIP-seq
MIRT2486148	hsa-miR-552	CLIP-seq
MIRT2486149	hsa-miR-764	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000126	Component	Transcription factor TFIIIB complex	IBA
GO:0000126	Component	Transcription factor TFIIIB complex	NAS	8943358
GO:0000995	Function	RNA polymerase III general transcription initiation factor activity	IBA
GO:0001006	Function	RNA polymerase III type 3 promoter sequence-specific DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	16713569, 18377933, 26496610, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006352	Process	DNA-templated transcription initiation	IBA
GO:0006352	Process	DNA-templated transcription initiation	IEA
GO:0006383	Process	Transcription by RNA polymerase III	IBA
GO:0006383	Process	Transcription by RNA polymerase III	TAS	8943358
GO:0006384	Process	Transcription initiation at RNA polymerase III promoter	TAS	7624363
GO:0008270	Function	Zinc ion binding	IEA
GO:0009303	Process	RRNA transcription	TAS	7624363
GO:0009304	Process	TRNA transcription	TAS	8943358
GO:0017025	Function	TBP-class protein binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070897	Process	Transcription preinitiation complex assembly	IEA
GO:0097550	Component	Transcription preinitiation complex	IBA

MIM	HGNC	e!Ensembl
604902	11551	ENSG00000185024

Q92994

Protein name

Transcription factor IIIB 90 kDa subunit (TFIIIB90) (hTFIIIB90) (B-related factor 1) (BRF-1) (hBRF) (TAF3B2) (TATA box-binding protein-associated factor, RNA polymerase III, subunit 2)

Protein function

General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08271	TF_Zn_Ribbon	4 → 46	TFIIB zinc-binding	Domain
PF00382	TFIIB	93 → 163	Transcription factor TFIIB repeat	Domain
PF00382	TFIIB	187 → 260	Transcription factor TFIIB repeat	Domain
PF07741	BRF1	450 → 548	Brf1-like TBP-binding domain	Domain

Sequence

MTGRVCRGCGGTDIELDAARGDAVCTACGSVLEDNIIVSEVQFVESSGGGSSAVGQFVSL
DGAGKTPTLGGGFHVNLGKESRAQTLQNGRRHIHHLGNQLQLNQHCLDTAFNFFKMAVSR
HLTRGRKMAHVIAACLYLVCRTEGTPHMLLDLSDLLQVNVYVLGKTFLLLARELCINAPA
IDPCLYIPRFAHLLEFGEKNHEVSMTALRLLQRMKRDWMHTGRRPSGLCGAALLVAARMH
DFRRTVKEVISVVKVCESTLRKRLTEFEDTPTSQLTIDEFMKIDLEEECDPPSYTAGQRK
LRMKQLEQVLSKKLEEVEGEISSYQDAIEIELENSRPKAKGGLASLAKDGSTEDTASSLC
GEEDTEDEELEAAASHLNKDLYRELLGGAPGSSEAAGSPEWGGRPPALGSLLDPLPTAAS
LGISDSIRECISSQSSDPKDASGDGELDLSGIDDLEIDRYILNESEARVKAELWMRENAE
YLREQREKEARIAKEKELGIYKEHKPKKSCKRREPIQASTAREAIEKMLEQKKISSKINY
SVLRGLSSAGGGSPHREDAQPEHSASARKLSRRRTPASRSGADPVTSVGKRLRPLVSTQP
AKKVATGEALLPSSPTLGAEPARPQAVLVESGPVSYHADEEADEEEPDEEDGEPCVSALQ
MMGSNDYGCDGDEDDGY

Sequence length

677

Interactions

View interactions

	Reactome
			RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BRF1-related disorder	Likely pathogenic	rs1304024631, rs778434804	RCV003402264 RCV003402090	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar-facial-dental syndrome	Likely pathogenic; Pathogenic	rs2141566255, rs606231450, rs606231416, rs370270828	RCV001391177 RCV000150045 RCV000150043 RCV000150046	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic	rs202049411	RCV001543610	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLOFACIODENTAL SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia, early-onset, and/or spastic paraplegia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	28972307, 29331492, 31781337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21990379, 32198086, 32418914, 36140725	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	28972307	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	31740786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37021545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar-facial-dental syndrome	Cerebellar-Facial-Dental Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CEREBELLOFACIODENTAL SYNDROME	Cerebellofaciodental Syndrome	GENOMICS_ENGLAND_DG	25561519		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLOFACIODENTAL SYNDROME	Cerebellofaciodental Syndrome	UNIPROT_DG	25561519		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLOFACIODENTAL SYNDROME	Cerebellofaciodental Syndrome	ORPHANET_DG	25561519		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLOFACIODENTAL SYNDROME	Cerebellofaciodental Syndrome	BEFREE	27748960		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLOFACIODENTAL SYNDROME	Cerebellofaciodental Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLOFACIODENTAL SYNDROME	Cerebellofaciodental Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28912018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33925358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Thrombotic Thrombocytopenic Purpura	Congenital Thrombotic Thrombocytopenic Purpura	BEFREE	30171775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25561519		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Liver carcinoma	Liver carcinoma	BEFREE	26701855, 31645432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33995823	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28972307, 29331492, 31781337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31740786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18700021, 28912018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17968325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	27748960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31740786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18700021, 31740786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	30171775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29331492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

BRF1 (BRF1 general transcription factor IIIB subunit)