EuRBPDB

Basic Information
Cancer Related Information

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000179409 (Gene tree)
Gene ID: 50628
Gene Symbol: GEMIN4
Alias: HHRF-1|DKFZP434B131|p97|DKFZP434D174|HC56|HCAP1
Full Name: gem nuclear organelle associated protein 4
Gene Type: protein_coding
Species: Homo_sapiens
Status: putative
Strand: Minus strand
Length: 9,586 bases
Position: chr17:744,414-753,999
Accession: 15717
RBP type: non-canonical RBP
Summary: The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
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	PolyT-RICK & 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
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 & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000576383	GEMIN4-206	633	-	ENSP00000461368	189 (aa)	-	I3L4M4
ENST00000570364	GEMIN4-203	1048	-	ENSP00000461103	271 (aa)	-	I3L4A4
ENST00000573482	GEMIN4-204	1015	XM_005256667	ENSP00000460286	296 (aa)	XP_005256724	I3L399
ENST00000319004	GEMIN4-201	3748	-	ENSP00000321706	1058 (aa)	-	P57678
ENST00000437269	GEMIN4-202	1182	-	ENSP00000392460	184 (aa)	-	E7EN12
ENST00000576778	GEMIN4-207	4729	XM_005256670	ENSP00000459565	1047 (aa)	XP_005256727	I3L2C7
ENST00000574958	GEMIN4-205	673	-	ENSP00000458896	70 (aa)	-	I3L1J7

Gene Model

Click here to download ENSG00000179409's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa03013	RNA transport	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000179409	Hypertension	8.0569814E-005	-

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000179409's network

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

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000179409	GEMIN4	100	84.656	ENSMUSG00000049396	Gemin4	100	81.664	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000387	spliceosomal snRNP assembly	21873635.	IBA	Process
GO:0000387	spliceosomal snRNP assembly	18984161.	IDA	Process
GO:0000387	spliceosomal snRNP assembly	-	TAS	Process
GO:0005515	protein binding	11714716.12869526.19750007.21988832.23752268.	IPI	Function
GO:0005654	nucleoplasm	-	TAS	Component
GO:0005730	nucleolus	-	IEA	Component
GO:0005737	cytoplasm	10725331.	TAS	Component
GO:0005829	cytosol	18984161.20513430.	IDA	Component
GO:0005829	cytosol	-	TAS	Component
GO:0006364	rRNA processing	-	IEA	Process
GO:0016020	membrane	19946888.	HDA	Component
GO:0016604	nuclear body	-	IDA	Component
GO:0030532	small nuclear ribonucleoprotein complex	10725331.	TAS	Component
GO:0032797	SMN complex	21873635.	IBA	Component
GO:0032797	SMN complex	18984161.	IDA	Component
GO:0034719	SMN-Sm protein complex	21873635.	IBA	Component
GO:0034719	SMN-Sm protein complex	18984161.	IDA	Component
GO:0051170	import into nucleus	-	TAS	Process
GO:0070062	extracellular exosome	19056867.	HDA	Component
GO:0097504	Gemini of coiled bodies	-	IEA	Component

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
27669275	Polymorphisms in GEMIN4 and AGO1 Genes Are Associated with the Risk of Lung Cancer: A Case-Control Study in Chinese Female Non-Smokers.	Int J Environ Res Public Health	2016 Sep 23	Fang X	doi: 10.3390/ijerph13100939.
22506892	Genetic variants in the microRNA machinery gene GEMIN4 are associated with risk of prostate cancer: a case-control study of the Chinese Han population.	DNA Cell Biol	2012 Jul	Liu J	doi: 10.1089/dna.2011.1600
14603441	Two variants of the human hepatocellular carcinoma-associated HCAP1 gene and their effect on the growth of the human liver cancer cell line Hep3B.	Genes Chromosomes Cancer	2004 Jan	Wan D	-

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
BLCA	chr17	747581	Silent	rs151264305	A154A	0.09
BLCA	chr17	746250	Missense_Mutation	novel	S598L	0.76
BLCA	chr17	746222	Silent	NA	L607L	0.12
BLCA	chr17	747291	Missense_Mutation	rs757149711	A251V	0.75
BLCA	chr17	747277	Missense_Mutation	rs531320666	D256N	0.17
BRCA	chr17	746338	Missense_Mutation	NA	V569L	0.29
BRCA	chr17	747595	Missense_Mutation	rs373337995	V150I	0.18
BRCA	chr17	745962	Missense_Mutation	rs753597687	P694L	0.29
BRCA	chr17	746533	Missense_Mutation	NA	R504C	0.53
BRCA	chr17	746851	Missense_Mutation	novel	A398S	0.36
BRCA	chr17	747145	Missense_Mutation	NA	V300I	0.11
CESC	chr17	747132	Missense_Mutation	rs201643179	S304L	0.1
CESC	chr17	745094	Missense_Mutation	NA	F983L	0.23
CESC	chr17	747092	Missense_Mutation	novel	C317W	0.12
CESC	chr17	744916	Missense_Mutation	rs180894698	G1043S	0.42
CESC	chr17	746399	Silent	rs376526336	S548S	0.27
CESC	chr17	746996	Silent	rs201463934	C349C	0.31
CESC	chr17	744962	Missense_Mutation	NA	Q1027H	0.31
CESC	chr17	747283	Missense_Mutation	NA	E254K	0.21
CESC	chr17	745094	Silent	NA	F983F	0.5
CESC	chr17	746506	Missense_Mutation	novel	E513K	0.24
COAD	chr17	747742	In_Frame_Del	NA	V100del	0.37
COAD	chr17	745614	Missense_Mutation	NA	G810E	0.23
COAD	chr17	745279	Missense_Mutation	novel	L922I	0.42
COAD	chr17	745176	Missense_Mutation	rs369029997	A956V	0.21
COAD	chr17	746403	Missense_Mutation	NA	A547V	0.24
COAD	chr17	747629	Silent	NA	H138H	0.22
COAD	chr17	747460	Nonsense_Mutation	novel	E195*	0.11
COAD	chr17	745616	Silent	rs374917019	Y809Y	0.08
COAD	chr17	747134	Silent	NA	T303T	0.22
COAD	chr17	744788	3'UTR	novel		0.43
COAD	chr17	746398	Missense_Mutation	rs373624818	V549M	0.35
COAD	chr17	746096	Silent	rs370625526	D649D	0.43
COAD	chr17	747326	Silent	rs781267706	A239A	0.26
COAD	chr17	746741	Silent	rs756295903	S434S	0.11
COAD	chr17	747044	Silent	rs763028232	A333A	0.3
COAD	chr17	747931	Missense_Mutation	rs558697152	D38N	0.35
COAD	chr17	745885	Missense_Mutation	NA	C720R	0.25
COAD	chr17	747058	Frame_Shift_Del	NA	*E329Rfs24**	0.3
COAD	chr17	746428	Missense_Mutation	novel	E539K	0.21
DLBC	chr17	745223	Silent	novel	V940V	0.33
ESCA	chr17	747746	Silent	rs370552236	S99S	0.36
ESCA	chr17	746557	Missense_Mutation	novel	N496H	0.19
GBM	chr17	746021	Missense_Mutation	NA	F674L	0.31
GBM	chr17	745500	Missense_Mutation	novel	L848R	0.32
HNSC	chr17	747583	Missense_Mutation	novel	A154S	0.5
HNSC	chr17	746299	Missense_Mutation	rs372394762	L582V	0.29
HNSC	chr17	746996	Missense_Mutation	novel	C349W	0.25
KIRC	chr17	746032	Missense_Mutation	NA	L671V	0.33
KIRC	chr17	746148	Missense_Mutation	NA	M632K	0.34
KIRC	chr17	747240	Frame_Shift_Ins	novel	*K268Tfs6**	0.16
KIRP	chr17	746104	Missense_Mutation	NA	E647Q	0.13
KIRP	chr17	746515	Missense_Mutation	novel	G510S	0.28
LAML	chr17	746223	Missense_Mutation	NA	L607H	0.39
LGG	chr17	746390	Silent	novel	R551R	0.17
LIHC	chr17	752252	5'UTR	novel		0.23
LIHC	chr17	745632	Missense_Mutation	NA	Q804R	0.31
LUAD	chr17	744860	3'UTR	rs754237034		0.14
LUAD	chr17	745432	Missense_Mutation	rs200388628	R871C	0.22
LUAD	chr17	746303	Missense_Mutation	NA	Q580H	0.59
LUAD	chr17	745556	Silent	rs751977516	S829S	0.39
LUAD	chr17	747268	Nonsense_Mutation	NA	E259*	0.1
LUAD	chr17	746099	Silent	NA	P648P	0.22
LUAD	chr17	747037	Missense_Mutation	rs186893279	R336C	0.13
LUSC	chr17	747730	Missense_Mutation	novel	P105S	0.4
LUSC	chr17	745444	Nonsense_Mutation	NA	Q867*	0.16
LUSC	chr17	746327	Silent	rs767791810	L572L	0.45
OV	chr17	745800	Missense_Mutation	novel	S748Y	0.5
OV	chr17	746012	Frame_Shift_Ins	novel	*L678Ffs2**	0.67
OV	chr17	745940	Missense_Mutation	NA	L701F	0.23
OV	chr17	747115	Missense_Mutation	novel	S310R	0.13
OV	chr17	746918	Silent	novel	V375V	0.68
OV	chr17	747343	Missense_Mutation	NA	G234W	0.87
PAAD	chr17	744913	Missense_Mutation	novel	P1044S	0.08
PAAD	chr17	746995	Missense_Mutation	rs373067107	D350N	0.18
PAAD	chr17	747291	Missense_Mutation	rs757149711	A251V	0.19
PRAD	chr17	747058	Frame_Shift_Del	NA	*E329Rfs24**	0.13
PRAD	chr17	746582	Silent	rs758441347	Y487Y	0.3
PRAD	chr17	747954	Missense_Mutation	novel	A30V	0.27
SARC	chr17	745864	Missense_Mutation	novel	D727H	0.08
SARC	chr17	747618	Missense_Mutation	novel	E142A	0.21
SARC	chr17	753553	5'Flank	novel		0.96
SKCM	chr17	746770	Missense_Mutation	NA	F425I	0.28
SKCM	chr17	747858	Missense_Mutation	novel	P62H	0.3
SKCM	chr17	745333	Missense_Mutation	rs774075432	P904S	0.92
SKCM	chr17	746982	Missense_Mutation	novel	S354F	0.41
SKCM	chr17	745777	Silent	NA	L756L	0.14
SKCM	chr17	746400	Missense_Mutation	rs775841183	S548F	0.41
SKCM	chr17	746039	Silent	NA	D668D	0.28
SKCM	chr17	745982	Silent	NA	Y687Y	0.69
STAD	chr17	746384	Silent	NA	V553V	0.15
STAD	chr17	747058	Frame_Shift_Del	NA	*E329Rfs24**	0.21
STAD	chr17	747633	Missense_Mutation	novel	C137Y	0.18
STAD	chr17	747804	Missense_Mutation	rs370389257	P80L	0.25
STAD	chr17	747058	Frame_Shift_Del	NA	*E329Rfs24**	0.09
STAD	chr17	747380	Silent	rs376833925	R221R	0.29
STAD	chr17	747475	Silent	novel	L190L	0.05
STAD	chr17	746991	Missense_Mutation	NA	S351N	0.06
STAD	chr17	747711	Missense_Mutation	novel	I111T	0.53
STAD	chr17	746064	Missense_Mutation	NA	L660W	0.07
STAD	chr17	746726	Silent	NA	A439A	0.22
UCEC	chr17	747277	Missense_Mutation	rs531320666	D256N	0.26
UCEC	chr17	745556	Silent	rs751977516	S829S	0.18
UCEC	chr17	748012	Nonsense_Mutation	NA	E11*	0.35
UCEC	chr17	744952	Missense_Mutation	rs758656608	E1031K	0.32
UCEC	chr17	745058	Silent	rs748658620	P995P	0.15
UCEC	chr17	745157	Silent	novel	P962P	0.16
UCEC	chr17	745549	Missense_Mutation	novel	M832V	0.11
UCEC	chr17	747556	Missense_Mutation	rs201806225	V163I	0.18
UCEC	chr17	746000	Silent	rs373348504	N681N	0.43
UCEC	chr17	744871	Missense_Mutation	novel	F1058L	0.29
UCEC	chr17	745054	In_Frame_Del	NA	E996del	0.48
UCEC	chr17	747152	Silent	novel	E297E	0.49
UCEC	chr17	747150	Missense_Mutation	rs764663586	R298Q	0.24
UCEC	chr17	753436	5'Flank	rs759887065		0.48
UCEC	chr17	745175	Silent	rs376639595	A956A	0.28
UCEC	chr17	744965	Silent	novel	L1026L	0.21
UCEC	chr17	746005	Missense_Mutation	rs368959543	A680T	0.19
UCEC	chr17	746615	Silent	novel	I476I	0.15
UCEC	chr17	745564	Missense_Mutation	novel	G827C	0.27
UCEC	chr17	747342	Missense_Mutation	rs749837692	G234E	0.26
UCEC	chr17	747058	Frame_Shift_Del	NA	*E329Rfs24**	0.18
UCEC	chr17	744834	3'UTR	novel		0.44
UCEC	chr17	745036	Missense_Mutation	rs367609297	V1003I	0.35
UCEC	chr17	746738	Silent	rs370293267	D435D	0.35
UCEC	chr17	753152	5'Flank	novel		0.44
UCEC	chr17	753136	5'Flank	novel		0.42
UCEC	chr17	744866	Nonstop_Mutation	novel	1059Cext75	0.53
UCEC	chr17	746577	Missense_Mutation	NA	D489V	0.41
UCEC	chr17	747785	Silent	rs377184751	S86S	0.49
UCEC	chr17	753044	5'Flank	novel		0.3
UCEC	chr17	744904	Missense_Mutation	rs373429888	R1047W	0.46
UCEC	chr17	746799	Missense_Mutation	novel	M415T	0.18
UCEC	chr17	745646	Silent	rs371532878	D799D	0.41
UCEC	chr17	746939	Silent	novel	L368L	0.09
UCEC	chr17	745228	Missense_Mutation	rs766132255	V939M	0.48
UCEC	chr17	746169	Frame_Shift_Del	novel	L625*	0.47
UCEC	chr17	746371	Missense_Mutation	novel	E558K	0.11
UCEC	chr17	748012	Nonsense_Mutation	NA	E11*	0.33
UCEC	chr17	747416	Silent	rs34245365	A209A	0.43
UCEC	chr17	753436	5'Flank	rs759887065		0.15
UCEC	chr17	745176	Missense_Mutation	rs369029997	A956V	0.4
UCEC	chr17	747668	Missense_Mutation	NA	F125L	0.26
UCEC	chr17	746186	Missense_Mutation	novel	K619N	0.26
UCEC	chr17	747933	Missense_Mutation	novel	S37Y	0.33
UCEC	chr17	747058	Frame_Shift_Del	NA	*E329Rfs24**	0.18
UCEC	chr17	747253	Missense_Mutation	rs780409881	V264M	0.41
UCEC	chr17	747209	Silent	NA	S278S	0.18
UCEC	chr17	746793	Missense_Mutation	rs772978681	R417H	0.27
UCEC	chr17	745709	Silent	novel	F778F	0.3
UCEC	chr17	746618	Silent	novel	Q475Q	0.53
UCEC	chr17	747291	Missense_Mutation	rs757149711	A251V	0.32
UCEC	chr17	747937	Missense_Mutation	novel	K36Q	0.36
UCEC	chr17	752911	5'Flank	novel		0.36
UCEC	chr17	753415	5'Flank	novel		0.52
UCEC	chr17	747468	Missense_Mutation	novel	A192V	0.34

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
DLBC	DEL	0.2083	0.18166
LAML	DEL	0.0733	0.12511
LIHC	DEL	0.527	3.9592e-10
LUAD	DEL	0.4477	0.00029194
SKCM	DEL	0.3106	0.21028
THCA	DEL	0.016	0.221
UCEC	DEL	0.2078	0.0018409

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.0011	Kaplan-Meier Survival Analysis
SARC	0.01	Kaplan-Meier Survival Analysis
ACC	0.0071	Kaplan-Meier Survival Analysis
SKCM	0.003	Kaplan-Meier Survival Analysis
PRAD	0.0088	Kaplan-Meier Survival Analysis
ESCA	0.03	Kaplan-Meier Survival Analysis
PAAD	0.0082	Kaplan-Meier Survival Analysis
BLCA	0.013	Kaplan-Meier Survival Analysis
READ	0.02	Kaplan-Meier Survival Analysis
KICH	0.0073	Kaplan-Meier Survival Analysis

Drugs

EuRBPDB

Description

RBPome

Expression

Transcripts

Gene Model

Pathways

Phenotypes

PPI

Orthologs

Gene Ontology

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Cell lines and drugs in GSE70138 or GSE92742