EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
26200099	Microcystic Stromal Tumor: A Distinctive Ovarian Sex Cord-Stromal Neoplasm Characterized by FOXL2, SF-1, WT-1, Cyclin D1, and β-catenin Nuclear Expression and CTNNB1 Mutations.	Am J Surg Pathol	2015 Oct	Irving JA	doi: 10.1097/PAS.0000000000000482.
25604140	Clinicopathological significance of steroidogenic factor-1 expression in ovarian cancer versus ovarian sex cord stromal tumor.	Tumour Biol	2015 Mar	Hu ZY	doi: 10.1007/s13277-014-2187-3

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
BLCA	chr9	124500620	Missense_Mutation	rs769207009	R114W	0.31
BRCA	chr9	124500119	Missense_Mutation	NA	R281C	0.25
CESC	chr9	124500174	Silent	rs566939634	F262F	0.5
CESC	chr9	124503110	Silent	novel	Q71Q	0.34
COAD	chr9	124500577	Frame_Shift_Ins	novel	*V128Gfs21**	0.33
COAD	chr9	124500710	Missense_Mutation	novel	R84C	0.4
COAD	chr9	124491200	Missense_Mutation	rs780199277	A340V	0.5
COAD	chr9	124503139	Missense_Mutation	NA	R62C	0.38
COAD	chr9	124500330	Silent	rs779933883	P210P	0.14
COAD	chr9	124482949	Missense_Mutation	NA	A399T	0.21
COAD	chr9	124500700	Missense_Mutation	NA	R87H	0.23
COAD	chr9	124482949	Missense_Mutation	NA	A399T	0.37
COAD	chr9	124500709	Missense_Mutation	rs375469069	R84H	0.51
GBM	chr9	124500570	Silent	rs368717361	P130P	0.62
GBM	chr9	124500553	Missense_Mutation	rs780022827	P136L	0.67
GBM	chr9	124500634	Missense_Mutation	novel	K109T	0.57
HNSC	chr9	124491106	Silent	novel	L371L	0.38
HNSC	chr9	124482980	Silent	novel	I388I	0.13
LIHC	chr9	124503204	Missense_Mutation	novel	T40M	0.16
LIHC	chr9	124500653	Missense_Mutation	novel	R103W	0.19
LIHC	chr9	124491106	Silent	novel	L371L	0.41
LUAD	chr9	124500692	Missense_Mutation	NA	G90S	0.28
LUAD	chr9	124500161	Nonsense_Mutation	novel	R267*	0.45
LUAD	chr9	124500691	Missense_Mutation	novel	G90D	0.62
LUAD	chr9	124493030	Missense_Mutation	novel	E330D	0.33
LUAD	chr9	124503172	Missense_Mutation	novel	E51Q	0.29
LUAD	chr9	124493102	Silent	rs757183764	L306L	0.39
LUSC	chr9	124503122	Missense_Mutation	novel	F67L	0.19
LUSC	chr9	124500180	Silent	rs374900251	A260A	0.3
LUSC	chr9	124500622	Missense_Mutation	novel	I113T	0.26
LUSC	chr9	124482864	Missense_Mutation	novel	R427P	0.08
LUSC	chr9	124482884	Silent	NA	L420L	0.28
OV	chr9	124482845	Silent	novel	A433A	0.95
OV	chr9	124500453	Silent	novel	L169L	0.43
PAAD	chr9	124500609	Silent	NA	G117G	0.2
READ	chr9	124500228	Silent	NA	I244I	0.46
SKCM	chr9	124503356	Missense_Mutation	novel	P14S	0.21
SKCM	chr9	124500090	Missense_Mutation	NA	E290D	0.28
SKCM	chr9	124482842	Silent	NA	K434K	0.47
SKCM	chr9	124500484	Missense_Mutation	NA	G159E	0.58
SKCM	chr9	124493032	Missense_Mutation	NA	E330K	0.61
SKCM	chr9	124500558	Silent	rs374497365	P134P	0.24
SKCM	chr9	124491218	Missense_Mutation	NA	T334I	0.14
SKCM	chr9	124500564	Silent	novel	P132P	0.26
SKCM	chr9	124500565	Missense_Mutation	novel	P132L	0.27
SKCM	chr9	124500559	Missense_Mutation	NA	P134L	0.36
SKCM	chr9	124491226	Splice_Region	NA	V331V	0.68
SKCM	chr9	124491198	Missense_Mutation	NA	G341S	0.33
STAD	chr9	124503151	Missense_Mutation	rs774672292	D58N	0.33
STAD	chr9	124503295	Frame_Shift_Del	novel	*K34Rfs41**	0.4
STAD	chr9	124500174	Silent	rs566939634	F262F	0.17
STAD	chr9	124500617	Missense_Mutation	novel	A115T	0.08
STAD	chr9	124503180	Frame_Shift_Del	novel	*T48Sfs27**	0.24
STAD	chr9	124500620	Missense_Mutation	rs769207009	R114W	0.36
STAD	chr9	124500239	Missense_Mutation	NA	R241W	0.35
STAD	chr9	124503177	Missense_Mutation	NA	C49Y	0.31
STAD	chr9	124493069	Silent	rs147024762	H317H	0.17
STAD	chr9	124482951	Missense_Mutation	NA	N398S	0.26
STAD	chr9	124500707	Missense_Mutation	NA	A85T	0.15
STAD	chr9	124500616	Missense_Mutation	novel	A115V	0.54
UCEC	chr9	124491182	Missense_Mutation	novel	S346N	0.27
UCEC	chr9	124503207	Missense_Mutation	novel	R39H	0.27
UCEC	chr9	124503158	Silent	novel	C55C	0.22
UCEC	chr9	124500232	Missense_Mutation	rs767165390	R243H	0.38
UCEC	chr9	124493082	Missense_Mutation	novel	R313H	0.41
UCEC	chr9	124500488	Missense_Mutation	NA	A158T	0.54
UCEC	chr9	124503128	Silent	novel	C65C	0.24
UCEC	chr9	124493051	Silent	novel	I323I	0.32
UCEC	chr9	124493111	Silent	rs185071408	S303S	0.44
UCEC	chr9	124500305	Missense_Mutation	novel	G219R	0.42
UCEC	chr9	124500331	Missense_Mutation	novel	P210L	0.33
UCEC	chr9	124500615	Silent	novel	A115A	0.19
UCEC	chr9	124493062	Missense_Mutation	NA	E320K	0.2
UCEC	chr9	124503300	Silent	novel	S32S	0.08
UCEC	chr9	124500620	Missense_Mutation	rs769207009	R114W	0.26
UCEC	chr9	124482854	Silent	rs748555623	S430S	0.39
UCEC	chr9	124503089	Missense_Mutation	rs104894125	M78I	0.45

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
BRCA	DEL	0.1898	1.2183e-05
CHOL	DEL	0.4444	0.067545
ESCA	AMP	0.2228	0.018342
LAML	DEL	0.0052	0.24147
LGG	AMP	0.0546	0.21332
LIHC	DEL	0.2514	0.12467
PRAD	AMP	0.0793	0.059049
TGCT	DEL	0.3267	0.21504
THCA	DEL	0.0401	0.24038
THYM	DEL	0.0163	0.022012
UCS	DEL	0.5893	0.089783

Survival Analysis

Cancer	P-value	Q-value
THYM	0.011	Kaplan-Meier Survival Analysis
SARC	0.025	Kaplan-Meier Survival Analysis
ACC	0.0014	Kaplan-Meier Survival Analysis
SKCM	0.017	Kaplan-Meier Survival Analysis
LUSC	0.049	Kaplan-Meier Survival Analysis
COAD	0.00075	Kaplan-Meier Survival Analysis
BLCA	0.045	Kaplan-Meier Survival Analysis
UCEC	0.0001	Kaplan-Meier Survival Analysis
LGG	0.039	Kaplan-Meier Survival Analysis
LUAD	0.0046	Kaplan-Meier Survival Analysis

Drugs

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Pathways

GWAS

PPI

Gene Ontology

Description

Ensembl ID: ENSG00000136931 (Gene tree)
Gene ID: 2516
Gene Symbol: NR5A1
Alias: FTZ1|SF-1|ELP|AD4BP|hSF-1|SF1|FTZF1
Full Name: nuclear receptor subfamily 5 group A member 1
Gene Type: protein_coding
Species: Homo_sapiens
Status: confidence
Strand: Minus strand
Length: 26,217 bases
Position: chr9:124,481,232-124,507,448
Accession: 7983
RBP type: non-canonical RBP
Summary: The protein encoded by this gene is a transcriptional activator involved in sex determination. The encoded protein binds DNA as a monomer. Defects in this gene are a cause of XY sex reversal with or without adrenal failure as well as adrenocortical insufficiency without ovarian defect. [provided by RefSeq, Jul 2008]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
22681889	The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts	4SURIC & HEK293	2012 May	Baltz AG	DOI: 10.1016/j.molcel.2012.05.021
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
29431736	Capturing the interactome of newly transcribed RNA	NascentRICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	RIC & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
22658674	Insights into RNA biology from an atlas of mammalian mRNA-binding proteins	RIC & Hela	2012 May 31	Castello A	DOI: 10.1016/j.cell.2012.04.031
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & Hela	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & MCF10A	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & MCF7	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
27453046	Comprehensive Identification of RNA-Binding Domains in Human Cells	RIC & Hela	2016 Aug 18	Castello A	DOI: 10.1016/j.molcel.2016.06.029
27453046	Comprehensive Identification of RNA-Binding Domains in Human Cells	RIC & Hela	2016 Aug 18	Castello A	DOI: 10.1016/j.molcel.2016.06.029
30352994	Discovery of RNA-binding proteins and characterization of their dynamic responses by enhanced RNA interactome capture	RIC & Jurkat	2018 Oct 23	Perez-Perri JI	DOI:10.1038/s41467-018-06557-8

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
9582097	Conservation of functional domains involved in RNA binding and protein-protein interactions in human and Saccharomyces cerevisiae pre-mRNA splicing factor SF1.	RNA	1998 May	Rain JC	-
18579725	Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies.	J Endocrinol	2008 Sep	Sakai N	doi: 10.1677/JOE-08-0027
19095772	Proteasome regulation of dynamic transcription factor occupancy on the GnRH-stimulated luteinizing hormone beta-subunit promoter.	Mol Endocrinol	2009 Feb	Walsh HE	doi: 10.1210/me.2008-0098
17694559	Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.	Hum Mutat	2008 Jan	Kohler B	-
23358192	Identification of transcription factors and coactivators affected by dibutylphthalate interactions in fetal rat testes.	Toxicol Sci	2013 Apr	Plummer SM	doi: 10.1093/toxsci/kft016
21586554	Steroidogenic factor-1 is required for TGF-beta3-mediated 17beta-estradiol synthesis in mouse ovarian granulosa cells.	Endocrinology	2011 Aug	Liang N	doi: 10.1210/en.2011-0102

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000373587	NR5A1-201	768	-	ENSP00000362689	245 (aa)	-	Q5T6F7
ENST00000455734	NR5A1-203	826	-	ENSP00000393245	177 (aa)	-	Q5T6F6
ENST00000620110	NR5A1-204	2975	-	ENSP00000483309	421 (aa)	-	F1DAM0
ENST00000373588	NR5A1-202	3104	-	ENSP00000362690	461 (aa)	-	Q13285

Gene Model

Click here to download ENSG00000136931's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa04927	Cortisol synthesis and secretion	KEGG
hsa04934	Cushing syndrome	KEGG

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000136931	rs117724125	9	124489501	T	Ankle injury	28957384		1.6205	EFO_1002021
ENSG00000136931	rs2297605	9	124493169	?	Menarche (age at onset)	30595370			EFO_0004703
ENSG00000136931	rs2297605	9	124493169	A	Alcohol consumption (drinks per week) (MTAG)	30643251	[0.005-0.0104] unit increase	0.00768614	EFO_0007878
ENSG00000136931	rs4838192	9	124488222	T	Chronotype	30696823	[0.0058-0.0124] unit increase	0.00912265	EFO_0008328

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000136931's network

* RBP PPI network refers to all genes directly bind to RBP

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000976	transcription regulatory region sequence-specific DNA binding	21873635.	IBA	Function
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	23610160.	IDA	Function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	-	ISS	Function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	21412441.	IDA	Function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	-	ISA	Function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	19274049.	ISM	Function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	19274049.	NAS	Function
GO:0001553	luteinization	-	IEA	Process
GO:0003677	DNA binding	10567391.	IDA	Function
GO:0003682	chromatin binding	21873635.	IBA	Function
GO:0003682	chromatin binding	-	ISS	Function
GO:0003707	steroid hormone receptor activity	-	IEA	Function
GO:0003713	transcription coactivator activity	8205615.	TAS	Function
GO:0004879	nuclear receptor activity	21873635.	IBA	Function
GO:0004879	nuclear receptor activity	23610160.	IDA	Function
GO:0005515	protein binding	10567391.14701856.16709599.17664281.21220346.22927646.23610160.25416956.25910212.	IPI	Function
GO:0005543	phospholipid binding	17664281.	IDA	Function
GO:0005634	nucleus	10567391.10848616.17664281.	IDA	Component
GO:0005654	nucleoplasm	-	TAS	Component
GO:0006367	transcription initiation from RNA polymerase II promoter	-	TAS	Process
GO:0007530	sex determination	24405868.27378692.27490115.27610946.27855412.	IMP	Process
GO:0007538	primary sex determination	9590178.	TAS	Process
GO:0008270	zinc ion binding	-	IEA	Function
GO:0008584	male gonad development	10369247.27378692.	IMP	Process
GO:0008585	female gonad development	27378692.	IMP	Process
GO:0009755	hormone-mediated signaling pathway	21873635.	IBA	Process
GO:0009888	tissue development	21873635.	IBA	Process
GO:0010259	multicellular organism aging	-	IEA	Process
GO:0010628	positive regulation of gene expression	27378692.	IDA	Process
GO:0010628	positive regulation of gene expression	23610160.	IMP	Process
GO:0019899	enzyme binding	17664281.	IPI	Function
GO:0030154	cell differentiation	-	IEA	Process
GO:0030238	male sex determination	10369247.	IMP	Process
GO:0030325	adrenal gland development	-	IEA	Process
GO:0030522	intracellular receptor signaling pathway	-	IEA	Process
GO:0042445	hormone metabolic process	-	IEA	Process
GO:0043401	steroid hormone mediated signaling pathway	-	IEA	Process
GO:0043565	sequence-specific DNA binding	27378692.	IDA	Function
GO:0045944	positive regulation of transcription by RNA polymerase II	21873635.	IBA	Process
GO:0045944	positive regulation of transcription by RNA polymerase II	23610160.	IGI	Process
GO:0045944	positive regulation of transcription by RNA polymerase II	17664281.	IMP	Process
GO:0045944	positive regulation of transcription by RNA polymerase II	-	ISS	Process
GO:0050810	regulation of steroid biosynthetic process	10567391.	TAS	Process
GO:0051457	maintenance of protein location in nucleus	-	IEA	Process
GO:0090575	RNA polymerase II transcription factor complex	21873635.	IBA	Component
GO:0090575	RNA polymerase II transcription factor complex	-	ISS	Component
GO:0097210	response to gonadotropin-releasing hormone	-	IEA	Process
GO:0097720	calcineurin-mediated signaling	-	IEA	Process
GO:2000020	positive regulation of male gonad development	21412441.	IDA	Process
GO:2000195	negative regulation of female gonad development	-	IEA	Process

EuRBPDB

Note: to get the extension of tumor abbreviations.

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Pathways

GWAS

PPI

Gene Ontology

Note: Click here to get the extension of tumor abbreviations.

Select Dataset :

Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742

Note: to get the extension of tumor abbreviations.